P26439/A10E AH2 P26439/A10V AH2 P26439/G15D AH2 P26439/A82P AH2 P26439/A82T AH2 P26439/N100S AH2 P26439/L108W AH2 P26439/G129R AH2 P26439/E142K AH2 P26439/P155L AH2 P26439/A167V AH2 P26439/L173R AH2 P26439/P186L AH2 P26439/L205P AH2 P26439/S213G AH2 P26439/K216E AH2 P26439/P222H AH2 P26439/P222Q AH2 P26439/P222T AH2 P26439/L236S AH2 P26439/A245P AH2 P26439/Y253N AH2 P26439/Y254D AH2 P26439/T259M AH2 P26439/T259R AH2 P26439/G294V AH2 P26439/P341L AH2 Q9H2F3/G19S CBAS1 Q9H2F3/E147K CBAS1 P78314/R415P CRBM P78314/R415Q CRBM P78314/P418H CRBM P78314/P418L CRBM P78314/P418R CRBM P78314/G420E CRBM P78314/G420R CRBM P28335/I156V RNA edited version P28335/N158S RNA edited version P28335/I160V RNA edited version Q9UC42/D137V P5N deficiency Q9UC42/L181P P5N deficiency Q9UC42/N229S P5N deficiency Q9UC42/G280R P5N deficiency P21589/C358Y CALJA Q86U18/S4L Z-Wrexham Q86U18/D26A V-Munich Q86U18/A58T M5-Karlsruhe Q86U18/R63C I Q86U18/L65P M-Procida Q86U18/S69F M6-Bonn Q86U18/S77F S-Iiyama Q86U18/A84T M6-Passau Q86U18/G91E M-Mineral springs Q86U18/T92I QO-Lisbon Q86U18/T109M Z-Bristol Q86U18/P112T M5-Berlin Q86U18/I116N QO-Ludwigshafen Q86U18/R125H M2 Q86U18/G139S QO-Newport Q86U18/G172R V and M-Nichinan Q86U18/G172W M2-Obernburg Q86U18/Q180E L-Frankfurt Q86U18/QGKIVDLVK190GFQNAILVR Aberrant form Q86U18/E228K X Q86U18/V237A M1A and Z Q86U18/R247C F Q86U18/D280V P-Duarte/P-Cardiff/P-Lowell Q86U18/E288V S and T Q86U18/S354F S-Munich Q86U18/A360T W-Bethesda Q86U18/D365N P-St.Albans/P-Donauwoerth Q86U18/E366K Z/Z-Augsburg/Z-Tun Q86U18/M382R Pittsburgh Q86U18/P386H Sao Tome Q86U18/P386T L-Offenbach Q86U18/E387K Christchurch Q86U18/P393L M-Heerlen Q86U18/E400D M2 and M3 Q86U18/P415H Y-Barcelona P08697/V411M APLID Q8WZ99/KM670NL AD1 Q8WZ99/D678N AD1 Q8WZ99/A692G AD1 Q8WZ99/E693G AD1 Q8WZ99/E693K CAA-APP Q8WZ99/E693Q CAA-APP Q8WZ99/D694N CAA-APP Q8WZ99/L705V CAA-APP Q8WZ99/A713T AD1 Q8WZ99/T714A AD1 Q8WZ99/T714I AD1 Q8WZ99/V715M AD1 Q8WZ99/I716V AD1 Q8WZ99/V717F AD1 Q8WZ99/V717G AD1 Q8WZ99/V717I AD1 Q8WZ99/V717L AD1 Q8WZ99/L723P AD1 Q9NRG9/Q15K AAAS Q9NRG9/H160R AAAS Q9NRG9/S263P AAAS Q6NSC9/L78P Bochum-1 Q6NSC9/P252A Bonn-1 Q9UGJ0/R302Q WPWS and CMH6 Q9UGJ0/R350RL CMH6 Q9UGJ0/H383R CMH6 Q9UGJ0/T400N CMH6 Q9UGJ0/N488I CMH6 Q9UGJ0/R531G WPWS Q9UGJ0/R531Q GSDH Q9UN09/P85L HDLD2 Q9UN09/R230C HDLD2 Q9UN09/A255T HDLD1 Q9UN09/E284K HDLD1 Q9UN09/Y482C HDLD1 Q9UN09/R587W HDLD1 Q9UN09/W590L HDLD1 Q9UN09/W590S HDLD1 Q9UN09/Q597R HDLD1 Q9UN09/W840R HDLD1 Q9UN09/T929I HDLD1 Q9UN09/N935H HDLD1 Q9UN09/N935S HDLD1 Q9UN09/A937V HDLD1 Q9UN09/A1046D HDLD1 Q9UN09/R1068C HDLD1 Q9UN09/M1091T HDLD2 Q9UN09/D1099Y HDLD2 Q9UN09/D1289N HDLD1 Q9UN09/L1379F HDLD1 Q9UN09/C1477R HDLD1 Q9UN09/S1506L HDLD1 Q9UN09/I1517R HDLD1 Q9UN09/R1680W HDLD1 Q9UN09/V1704D HDLD1 Q9UN09/N1800H HDLD1 Q9UN09/R1851Q HDLD1 Q9UN09/R1897W HDLD2 Q9UN09/R1901S HDLD1 Q9UN09/R1925Q Scott syndrome Q9UN09/F2009S HDLD2 Q9UN09/R2081W HDLD1 Q9UN09/P2150L HDLD2 Q9UN09/Q2196H HDLD1 Q99758/L101P SMDP3 Q99758/N568D SMDP3 Q99758/L1553P SMDP3 Q99758/Q1591P SMDP3 P78363/L11P FFM P78363/R18W STGD1 P78363/R24H STGD1 P78363/C54Y STGD1 P78363/N58K STGD1 P78363/A60E STGD1 P78363/A60T STGD1 P78363/A60V STGD1 P78363/G65E STGD1 and CORD3 P78363/P68L STGD1 P78363/P68R STGD1 P78363/G72R STGD1 P78363/C75G STGD1 P78363/V77E STGD1 P78363/N96D STGD1 P78363/N96H STGD1 P78363/S100P STGD1 P78363/I156V STGD1 P78363/Q190H STGD1 P78363/A192T STGD1 P78363/S206R STGD1 P78363/R212C STGD1 and CORD3 P78363/R220C STGD1 P78363/C230S STGD1 P78363/L244P STGD1 P78363/N247S STGD1 P78363/D249G STGD1 P78363/T300N STGD1 P78363/P309R STGD1 P78363/E328V STGD1 P78363/R333W STGD1 P78363/S336C STGD1 P78363/W339G FFM P78363/Y340D STGD1 P78363/N380K STGD1 P78363/A407V STGD1 and CORD3 P78363/S445R STGD1 P78363/E471K ARMD2 and STGD1 P78363/D523E STGD1 P78363/F525C STGD1 P78363/R537C STGD1 P78363/L541P STGD1, FFM and CORD3 P78363/A549P STGD1 P78363/G550R STGD1 P78363/R572P STGD1 P78363/R572Q STGD1 P78363/R602Q STGD1 P78363/R602W STGD1 P78363/G607R STGD1 P78363/G607W STGD1 P78363/F608I STGD1 P78363/Q635K STGD1 P78363/Q636H STGD1 P78363/V643M STGD1 P78363/D645N STGD1 P78363/R653C STGD1 P78363/L686S STGD1 P78363/T716M STGD1 P78363/A762E ARMD2 P78363/C764Y STGD1 P78363/S765N STGD1 P78363/S765R STGD1 P78363/V767D STGD1 P78363/L797P STGD1 P78363/G818E ARMD2 and STGD1 P78363/W821R STGD1 P78363/I824T STGD1 P78363/V849A STGD1 P78363/G851D STGD1 P78363/A854T STGD1 P78363/G863A STGD1, FFM and CORD3 P78363/F873L STGD1 P78363/T897I STGD1 P78363/V931M STGD1 P78363/V935A STGD1 P78363/R943W STGD1 and FFM P78363/Q957R STGD1 P78363/T959I STGD1 P78363/N965S STGD1 P78363/T971N STGD1 P78363/T972N STGD1 P78363/S974P STGD1 P78363/G978C STGD1 P78363/V989A STGD1 P78363/G991R FFM P78363/L1014R STGD1 P78363/T1019A STGD1 P78363/T1019M STGD1 P78363/E1022K STGD1 P78363/K1031E STGD1 P78363/E1036K STGD1 P78363/A1038V STGD1, FFM and CORD3 P78363/R1055W STGD1 P78363/S1063P STGD1 P78363/S1071L STGD1 P78363/V1072A STGD1 P78363/E1087D STGD1 P78363/E1087K STGD1 P78363/G1091E FFM P78363/R1097C STGD1 P78363/R1108C STGD1 and FFM P78363/R1108H STGD1 P78363/R1108L STGD1 P78363/T1112N STGD1 P78363/E1122K STGD1 and CORD3 P78363/R1129C STGD1 P78363/R1129L ARMD2 and STGD1 P78363/L1201R STGD1 P78363/D1204N STGD1 P78363/L1250P STGD1 P78363/T1253M FFM P78363/R1300Q STGD1 P78363/P1380L STGD1 P78363/L1388P STGD1 P78363/E1399K STGD1 P78363/H1406Y STGD1 P78363/W1408L STGD1 P78363/W1408R STGD1 P78363/T1428M ARMD2 P78363/V1429A STGD1 P78363/L1430P STGD1 P78363/V1433I STGD1 P78363/G1439D STGD1 P78363/F1440S STGD1 P78363/F1440V STGD1 P78363/R1443H STGD1 P78363/P1486L STGD1 P78363/C1488F STGD1 P78363/C1488R STGD1 and FFM P78363/C1488Y STGD1 P78363/C1490Y STGD1 and CORD3 P78363/G1508C FFM P78363/Q1513R STGD1 P78363/R1517S ARMD2 P78363/L1525P STGD1 P78363/T1526M STGD1 P78363/D1532N STGD1 P78363/T1537M STGD1 P78363/I1562T STGD1, FFM, ARMD2 and CORD3 P78363/G1578R ARMD2 P78363/A1598D CORD3 P78363/L1631P STGD1 P78363/R1640Q STGD1, FFM and CORD3 P78363/R1640W STGD1 and CORD3 P78363/Y1652D STGD1 P78363/S1689P STGD1 P78363/V1693I STGD1 P78363/S1696N STGD1 P78363/Q1703K STGD1 P78363/R1705L STGD1 P78363/W1724C ARMD2 P78363/L1729P STGD1 P78363/M1733T STGD1 P78363/S1736P STGD1 P78363/G1748R STGD1 P78363/L1763P STGD1 P78363/P1776L STGD1 P78363/P1780A STGD1 P78363/A1794D STGD1 P78363/N1799D STGD1 P78363/N1805D STGD1 P78363/R1820P STGD1 P78363/H1838Y STGD1 P78363/R1843W STGD1 P78363/V1884E STGD1 P78363/E1885K STGD1 P78363/G1886E STGD1 P78363/V1896D STGD1 P78363/R1898H STGD1 and ARMD2 P78363/L1940P STGD1 and FFM P78363/G1961E STGD1 and FFM P78363/L1970F ARMD2 and FFM P78363/L1971R FFM P78363/G1975R STGD1 P78363/G1977S STGD1 and ARMD2 P78363/L2027F STGD1 and FFM P78363/R2030Q STGD1 and FFM P78363/L2035P STGD1 P78363/R2038W STGD1 P78363/I2047N ARMD2 P78363/V2050L STGD1 P78363/L2060R CORD3 P78363/Y2071F STGD1 P78363/R2077G STGD1 P78363/R2077W STGD1 P78363/E2096K STGD1 P78363/R2106C STGD1 and FFM P78363/R2107C STGD1 P78363/R2107H STGD1 P78363/H2128R STGD1 P78363/E2131K STGD1 P78363/C2137Y ARMD2 P78363/R2139W STGD1 P78363/G2146D CORD3 P78363/R2149L STGD1 P78363/C2150R STGD1 P78363/C2150Y STGD1 and CORD3 P78363/K2160R STGD1 P78363/L2229P STGD1 P78363/L2241V STGD1 P78363/R2263L STGD1 Q86UK0/T345P ARCI4A Q86UK0/S387N ARCI4B Q86UK0/G1136D ARCI4A Q86UK0/G1179R ARCI4B Q86UK0/W1235S ARCI4A Q86UK0/N1380S ARCI4A Q86UK0/G1381E ARCI4A Q86UK0/I1494T ARCI4A Q86UK0/R1514H ARCI4A Q86UK0/E1539K ARCI4A Q86UK0/G1559V ARCI4A Q86UK0/G1651S ARCI4A Q86UK0/P1798L ARCI4A Q86UK0/T1980K ARCI4A Q86UK0/D2365N ARCI4B Q9NP58/A57T MCOPCB7 Q9NP58/L811V MCOPCB7 O75027/E208D ASAT O75027/I400M ASAT O75027/V411L ASAT O75027/E433K ASAT O95342/E186G BRIC2 O95342/G238V PFIC2 O95342/V284L PFIC2 O95342/E297G PFIC2 and BRIC2 O95342/C336S PFIC2 O95342/R432T BRIC2 O95342/K461E PFIC2 O95342/D482G PFIC2 O95342/A570T BRIC2 O95342/T923P BRIC2 O95342/A926P BRIC2 O95342/G982R PFIC2 O95342/G1004D PFIC2 O95342/R1050C BRIC2 O95342/R1128H BRIC2 O95342/R1153C PFIC2 O95342/R1268Q PFIC2 Q09428/G7R HHF1 Q09428/V21D HHF1 Q09428/F27S HHF1 Q09428/G70E HHF1 Q09428/R74Q HHF1 Q09428/R74W HHF1 Q09428/V86A PNDM Q09428/G111R HHF1 Q09428/A116P HHF1 Q09428/H125Q HHF1 Q09428/F132L PNDM Q09428/V187D HHF1 Q09428/N188S HHF1 Q09428/L213R PNDM Q09428/M233R HHF1 Q09428/D310N HHF1 Q09428/N406D HHF1 Q09428/C418R HHF1 Q09428/C435R TNDM2 Q09428/R495Q HHF1 Q09428/E501K HHF1 Q09428/L503P HHF1 Q09428/L508P HHF1 Q09428/P551R HHF1 Q09428/L582V TNDM2 Q09428/F591L HHF1 Q09428/R620C HHF1 Q09428/F686S HHF1 Q09428/G716V HHF1 Q09428/K719T HHF1 Q09428/R841G HHF1 Q09428/K889T HHF1 Q09428/S956F HHF1 Q09428/H1023Y TNDM2 Q09428/T1130P HHF1 Q09428/T1138M HHF1 Q09428/L1147R HHF1 Q09428/R1182Q TNDM2 Q09428/R1214Q HHF1 Q09428/R1214W HHF1 Q09428/N1295K HHF1 Q09428/K1336N HHF1 Q09428/G1342E HHF1 Q09428/L1349Q HHF1 Q09428/R1352H LIH Q09428/R1352P HHF1 Q09428/V1360M HHF1 Q09428/G1378R HHF1 Q09428/R1379C TNDM2 Q09428/G1381S HHF1 Q09428/K1384Q HHF1 Q09428/S1386F HHF1 Q09428/R1393H HHF1 Q09428/G1400R HHF1 Q09428/R1418H HHF1 Q09428/R1420C HHF1 Q09428/I1424V PNDM Q09428/R1436Q HHF1 Q09428/L1450P HHF1 Q09428/A1457T HHF1 Q09428/D1471H HHF1 Q09428/D1471N HHF1 Q09428/G1478R HHF1 Q09428/R1486K HHF1 Q09428/R1493Q HHF1 Q09428/R1493W HHF1 Q09428/E1506K HHF1 Q09428/A1507AAS HHF1 Q09428/L1543P HHF1 Q09428/V1550D HHF1 Q09428/L1551V HHF1 O60706/H60Y HTOCD O60706/D207E HTOCD O60706/G380C HTOCD O60706/P432L HTOCD O60706/A478V HTOCD O60706/S1020P HTOCD O60706/F1039S HTOCD O60706/C1043Y HTOCD O60706/S1054Y HTOCD O60706/R1116C HTOCD O60706/R1116H HTOCD O60706/R1154Q HTOCD O60706/R1154W HTOCD O60706/A1513T CMD1O O60706/T1547I ATFB12 P33897/C88W ALD P33897/E90K ALD P33897/S98L ALD P33897/A99D ALD P33897/S103R ALD P33897/R104C ALD P33897/R104H ALD P33897/T105I ALD P33897/T105P ALD P33897/L107P ALD P33897/S108L ALD P33897/S108W ALD P33897/R113C ALD P33897/R113P ALD P33897/G116R ALD P33897/A141T ALD P33897/P143S ALD P33897/N148S ALD P33897/S149N ALD P33897/R152C ALD P33897/R152L ALD P33897/R152P ALD P33897/R152S ALD P33897/S161P ALD P33897/R163H ALD P33897/R163P ALD P33897/Y174C ALD P33897/Y174D ALD P33897/Y174S ALD P33897/Q178E ALD P33897/Y181C ALD P33897/R182P ALD P33897/R189W ALD P33897/L190P ALD P33897/D194H ALD P33897/T198K ALD P33897/T198R ALD P33897/D200N ALD P33897/D200V ALD P33897/S207SAAS ALD P33897/L211P ALD P33897/S213C ALD P33897/N214D ALD P33897/K217E ALD P33897/P218T ALD P33897/L220P ALD P33897/D221G ALD P33897/V224E ALD P33897/L229P ALD P33897/T254M ALD P33897/T254P ALD P33897/P263L ALD P33897/G266E ALD P33897/G266R ALD P33897/E271K ALD P33897/R274W ALD P33897/K276E ALD P33897/G277GN ALD P33897/G277R ALD P33897/G277W ALD P33897/R280C ALD P33897/R285P ALD P33897/E291D ALD P33897/E291K ALD P33897/A294T ALD P33897/Y296C ALD P33897/G298D ALD P33897/E300EVGQ ALD P33897/E302K ALD P33897/L322P ALD P33897/K336M ALD P33897/W339R ALD P33897/S342P ALD P33897/G343D ALD P33897/G343S ALD P33897/R389G ALD P33897/R389H ALD P33897/R401Q ALD P33897/R401W ALD P33897/R418W ALD P33897/P484R ALD P33897/L503P ALD P33897/G507V ALD P33897/G512S ALD P33897/S514R ALD P33897/S515F ALD P33897/L516P ALD P33897/R518Q ALD P33897/R518W ALD P33897/G522W ALD P33897/L523F ALD P33897/G529S ALD P33897/P534L ALD P33897/F540C ALD P33897/F540S ALD P33897/P543L ALD P33897/Q544R ALD P33897/S552P ALD P33897/R554H ALD P33897/Q556R ALD P33897/P560L ALD P33897/P560R ALD P33897/P560S ALD P33897/M566K ALD P33897/R591P ALD P33897/R591Q ALD P33897/R591W ALD P33897/S606L ALD P33897/S606P ALD P33897/G608D ALD P33897/E609G ALD P33897/E609K ALD P33897/A616V ALD P33897/R617C ALD P33897/R617G ALD P33897/R617H ALD P33897/A626D ALD P33897/A626T ALD P33897/D629H ALD P33897/E630G ALD P33897/C631Y ALD P33897/T632I ALD P33897/T632P ALD P33897/S633I ALD P33897/S633R ALD P33897/V635M ALD P33897/S636I ALD P33897/D638Y ALD P33897/E640K ALD P33897/A646P ALD P33897/L654P ALD P33897/R660P ALD P33897/R660Q ALD P33897/R660W ALD P33897/H667D ALD P33897/T668I ALD P33897/G677D ALD P33897/W679R ALD P33897/T693M ALD O14678/Y319C MAHCJ Q9H222/E146Q STSL Q9H222/R389H STSL Q9H222/R419H STSL Q9H222/R419P STSL Q9H222/N437K STSL Q9H222/R550S STSL Q9H221/R184H STSL Q9H221/P231T STSL Q9H221/R263Q STSL Q9H221/R405H STSL Q9H221/L501P STSL Q9H221/R543S STSL Q9H221/L572P STSL Q9H221/G574E STSL Q9H221/G574R STSL Q9H221/L596R STSL Q8WTS1/E7K CDS Q8WTS1/S115G CDS Q8WTS1/Q130P CDS Q8WTS1/E260K CDS Q9UKU7/M128I IBDD Q9UKU7/D134Y IBDD Q9UKU7/G137R IBDD Q9UKU7/M152T IBDD Q9UKU7/V203I IBDD Q9UKU7/R302Q IBDD Q9UKU7/A320T IBDD Q9UKU7/R334C IBDD Q9UKU7/Q385R IBDD P11310/R53C ACADMD P11310/Y67H ACADMD P11310/I78T ACADMD P11310/C116Y ACADMD P11310/T121I ACADMD P11310/M149I ACADMD P11310/T193A ACADMD P11310/G195R ACADMD P11310/R206L ACADMD P11310/C244R ACADMD P11310/S245L ACADMD P11310/G267R ACADMD P11310/R281T ACADMD P11310/G310R ACADMD P11310/M326T ACADMD P11310/K329E ACADMD P11310/S336R ACADMD P11310/Y352C ACADMD P11310/I375T ACADMD P16219/R46W ACADSD P16219/G90S ACADSD P16219/G92C ACADSD P16219/R107C ACADSD P16219/W177R ACADSD P16219/A192V ACADSD P16219/R325W ACADSD P16219/S353L ACADSD P16219/R380W ACADSD P16219/R383C ACADSD P49748/T158N ACADVLD P49748/Q159R ACADVLD P49748/V174M ACADVLD P49748/G185S ACADVLD P49748/A213P ACADVLD P49748/E218K ACADVLD P49748/L243R ACADVLD P49748/K247E ACADVLD P49748/K247T ACADVLD P49748/T260M ACADVLD P49748/A281D ACADVLD P49748/V283A ACADVLD P49748/G290D ACADVLD P49748/G294E ACADVLD P49748/K299N ACADVLD P49748/V317A ACADVLD P49748/M352V ACADVLD P49748/R366C ACADVLD P49748/R366H ACADVLD P49748/K382Q ACADVLD P49748/D405H ACADVLD P49748/G441D ACADVLD P49748/R450H ACADVLD P49748/R453Q ACADVLD P49748/D454N ACADVLD P49748/R456H ACADVLD P49748/F458L ACADVLD P49748/R459W ACADVLD P49748/G463E ACADVLD P49748/R469Q ACADVLD P49748/R469W ACADVLD P49748/A490P ACADVLD P49748/L502P ACADVLD P49748/E534K ACADVLD P49748/L602I ACADVLD P49748/R613W ACADVLD P49748/R615Q ACADVLD O00400/A110P CCHLND O00400/S113R SPG42 P45954/L255F SBCADD Q53F46/H353N Yt(b Q15822/I279N ENFL4 P43681/S280F ENFL1 P43681/S280L ENFL1 P02708/V177L FCCMS P02708/G198S SCCMS P02708/V201M SCCMS P02708/R254L LMPS P02708/N262K SCCMS P02708/F278V FCCMS P02708/V294F SCCMS P02708/T299I SCCMS P02708/F301L FCCMS P02708/S314I SCCMS P02708/V330I FCCMS P02708/C463W SCCMS P17787/V287L ENFL3 P17787/V287M ENFL3 P11230/L285M SCCMS P11230/V289M SCCMS Q07001/E80K FCCMS Q07001/F95L LMPS Q07001/P271Q FCCMS Q07001/Q288E SCCMS Q07001/S289F SCCMS Q04844/G13R FCCMS Q04844/L98P SCCMS Q04844/P141L FCCMS Q04844/S163L FCCMS Q04844/R167L CMS-ACHRD Q04844/L241F SCCMS Q04844/P265L CMS-ACHRD Q04844/T284P SCCMS Q04844/L289F SCCMS Q04844/R331W CMS-ACHRD Q04844/A431P FCCMS P07510/V107G EVMPS and LMPS P07510/R239C EVMPS and LMPS Q99798/S112R ICRD Q4G176/M198R CMAMMA Q4G176/P243L CMAMMA Q4G176/T358I CMAMMA Q4G176/E359K CMAMMA Q4G176/K462T CMAMMA Q4G176/R471Q CMAMMA Q4G176/R471W CMAMMA Q4G176/G480S CMAMMA Q4G176/R558W CMAMMA O60488/R570S MRX63 P62736/R39H AAT6 P62736/N117T AAT6 P62736/R118Q AAT6 P62736/Y135H AAT6 P62736/Y145C AAT6 P62736/R149C AAT6 P62736/V154A AAT6 P62736/R179H MYMY5 and MSMDYS P62736/R185Q AAT6 P62736/R212Q AAT6 P62736/R258C AAT6 P62736/R258H AAT6 P62736/R292G AAT6 P62736/T326N AAT6 P62736/T353N AAT6 Q96HG5/N12D BRWS1 Q96HG5/L65V BRWS1 Q96HG5/R183W DYTJ Q96HG5/R196C BRWS1 Q96HG5/R196H BRWS1 P68032/H90Y CMH11 P68032/R97C CMH11 P68032/E101K CMH11 P68032/M125V ASD5 P68032/P166A CMH11 P68032/Y168C CMH11 P68032/A297S CMH11 P68032/M307L CMH11 P68032/R314H CMD1R P68032/A333P CMH11 P68032/E363G CMD1R P63261/T89I DFNA20 P63261/K118M DFNA20 P63261/K118N DFNA20 P63261/T120I BRWS2 P63261/I122V DFNA20 P63261/A135V BRWS2 P63261/S155F BRWS2 P63261/T203K BRWS2 P63261/E241K DFNA20 P63261/R254W BRWS2 P63261/R256W BRWS2 P63261/P264L DFNA20 P63261/T278I DFNA20 P63261/P332A DFNA20 P63261/V370A DFNA20 Q01718/S74I GCCD1 Q01718/D103N GCCD1 Q01718/D107N GCCD1 Q01718/S120R GCCD1 Q01718/R128C GCCD1 Q01718/R137W GCCD1 Q01718/R146H GCCD1 Q01718/C251F GCCD1 Q01718/Y254C GCCD1 P12814/Q32K BDPLT15 P12814/R46Q BDPLT15 P12814/V105I BDPLT15 P12814/E225K BDPLT15 P12814/R738W BDPLT15 P12814/R752Q BDPLT15 P35609/Q9R CMD1AA O43707/K255E FSGS1 O43707/T259I FSGS1 O43707/S262P FSGS1 P68133/D3Y NEM3 P68133/G17R MPCETM P68133/D27N NEM3 P68133/V37L NEM3 P68133/P40L NEM3 P68133/H42Y NEM3 P68133/Q43R NEM3 P68133/G44V NEM3 P68133/V45F NEM3 P68133/I66N NEM3 P68133/T68I NEM3 P68133/E74K NEM3 P68133/H75L NEM3 P68133/H75R NEM3 P68133/I77L NEM3 P68133/T79A NEM3 P68133/E85K NEM3 P68133/L96P NEM3 P68133/A116T NEM3 P68133/N117S NEM3 P68133/N117T NEM3 P68133/R118H NEM3 P68133/M134V NEM3 P68133/V136A NEM3 P68133/I138M NEM3 P68133/A140P NEM3 P68133/L142P NEM3 P68133/G148D NEM3 P68133/T150N NEM3 P68133/D156N NEM3 P68133/V165L MPCETM P68133/V165M NEM3 P68133/A172G NEM3 P68133/D181G NEM3 P68133/D181H NEM3 P68133/D181N NEM3 P68133/G184D NEM3 P68133/R185C NEM3 P68133/R185D NEM3 P68133/R185G NEM3 P68133/R185S NEM3 P68133/R198L NEM3 P68133/G199S NEM3 P68133/L223P CD P68133/E226G NEM3 P68133/E226Q NEM3 P68133/N227V NEM3 P68133/M229I NEM3 P68133/M229T NEM3 P68133/M229V NEM3 P68133/E243K NEM3 P68133/Q248K NEM3 P68133/Q248R NEM3 P68133/G253D NEM3 P68133/R258H NEM3 P68133/R258L NEM3 P68133/E261V NEM3 P68133/Q265L NEM3 P68133/G270C NEM3 P68133/G270D NEM3 P68133/G270R NEM3 P68133/M271R NEM3 P68133/A274E NEM3 P68133/Y281H NEM3 P68133/N282K NEM3 P68133/M285K NEM3 P68133/D288G NEM3 P68133/D294V CD P68133/P334S CD P68133/E336A NEM3 P68133/K338E NEM3 P68133/K338I NEM3 P68133/S350L NEM3 P68133/I359L NEM3 P68133/V372F NEM3 P68133/R374S NEM3 P68133/K375E NEM3 P68133/K375Q NEM3 P37023/GA48EP HHT2 P37023/G48R HHT2 P37023/W50C HHT2 P37023/C51Y HHT2 P37023/R67Q HHT2 P37023/R67W HHT2 P37023/C77W HHT2 P37023/N96D HHT2 P37023/D179A HHT2 P37023/G211D HHT2 P37023/E215K HHT2 P37023/G223R HHT2 P37023/K229R HHT2 P37023/L285F HHT2 P37023/A306P HHT2 P37023/H314Y HHT2 P37023/S333I HHT2 P37023/L337P HHT2 P37023/C344Y HHT2 P37023/A347P HHT2 P37023/R374Q HHT2 P37023/R374W HHT2 P37023/M376R HHT2 P37023/M376V HHT2 P37023/P378L HHT2 P37023/E379K HHT2 P37023/D397G HHT2 P37023/I398N HHT2 P37023/W399S HHT2 P37023/E407D HHT2 P37023/R411P HHT2 P37023/R411Q HHT2 P37023/R411W HHT2 P37023/P424T HHT2 P37023/F425L HHT2 P37023/F425V HHT2 P37023/R479L HHT2 P37023/A482V HHT2 P37023/R484W HHT2 P37023/K487T HHT2 Q04771/PF197L FOP Q04771/R202I FOP Q04771/R206H FOP Q04771/Q207E FOP Q04771/G328E FOP Q04771/G328R FOP Q04771/G328W FOP Q04771/G356D FOP Q04771/R375P FOP Q03154/R197W ACY1D Q03154/E233D ACY1D Q03154/R353C ACY1D Q03154/R378Q ACY1D Q03154/R378W ACY1D Q03154/R386C ACY1D Q03154/R393H ACY1D P45381/I16T CAND P45381/H21P CAND P45381/E24G CAND P45381/G27R CAND P45381/A57T CAND P45381/D68A CAND P45381/D114E CAND P45381/D114Y CAND P45381/G123E CAND P45381/I143T CAND P45381/C152R CAND P45381/C152W CAND P45381/C152Y CAND P45381/R168C CAND P45381/R168H CAND P45381/P181T CAND P45381/P183H CAND P45381/V186F CAND P45381/M195R CAND P45381/Y231C CAND P45381/H244R CAND P45381/D249V CAND P45381/G274R CAND P45381/P280L CAND P45381/P280S CAND P45381/E285A CAND P45381/A287T CAND P45381/F295S CAND P45381/A305E CAND O00116/R182Q RCDP3 O00116/T309I RCDP3 O00116/R419H RCDP3 O00116/L469P RCDP3 O00116/E471K RCDP3 O00116/T568M RCDP3 Q96EY9/V128M MRT36 P00813/H15D ADASCID P00813/G20R ADASCID P00813/G74C ADASCID P00813/R76W ADASCID P00813/A83D ADASCID P00813/R101L ADASCID P00813/R101Q ADASCID P00813/R101W ADASCID P00813/L107P ADASCID P00813/V129M ADASCID P00813/G140E ADASCID P00813/R149Q ADASCID P00813/R149W ADASCID P00813/R156C ADASCID P00813/R156H ADASCID P00813/V177M ADASCID P00813/A179D ADASCID P00813/Q199P ADASCID P00813/R211C ADASCID P00813/R211H ADASCID P00813/A215T ADASCID P00813/G216R ADASCID P00813/P274L ADASCID P00813/S291L ADASCID P00813/P297Q ADASCID P00813/L304R ADASCID P00813/A329V ADASCID Q8NI60/R213W COQ10D4 Q8NI60/G272D COQ10D4 Q8NI60/G272V COQ10D4 Q8NI60/Y514C COQ10D4 Q8NI60/G549S COQ10D4 Q8NI60/E551K COQ10D4 O95622/A726T FDFM O60503/I772M 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population Q15848/R112C ADPND Q9BTN2/G30E HMAKD Q9BTN2/D235A HMAKD Q9BTN2/A318E HMAKD P12235/A90D PEOA2 P12235/L98P PEOA2 P12235/D104G PEOA2 P12235/A114P PEOA2 P12235/V289M PEOA2 Q9Y4W6/N432T SCA28 Q9Y4W6/Y616C SPAX5 Q9Y4W6/T654I SCA28 Q9Y4W6/M666R SCA28 Q9Y4W6/M666T SCA28 Q9Y4W6/M666V SCA28 Q9Y4W6/G671E SCA28 Q9Y4W6/G671R SCA28 Q9Y4W6/E691K SCA28 Q9Y4W6/A694E SCA28 Q9Y4W6/E700K SCA28 Q9Y4W6/R702Q SCA28 P06280/A20P FD P06280/A31V FD P06280/L32P FD P06280/N34S FD P06280/G35R FD P06280/P40L FD P06280/P40S FD P06280/M42L FD P06280/M42V FD P06280/G43R FD P06280/LH45RS FD P06280/H46P FD P06280/H46R FD P06280/H46Y FD P06280/W47G FD P06280/R49L FD P06280/R49P FD P06280/R49S FD P06280/C52R FD P06280/C52S FD P06280/C56F FD P06280/C56G FD P06280/C56Y FD P06280/E59K FD P06280/S65T FD P06280/E66Q FD P06280/M72V FD P06280/G85D FD P06280/Y86C FD P06280/L89P FD P06280/L89R FD P06280/I91T FD P06280/D92H FD P06280/D92Y FD P06280/D93G FD P06280/D93N FD P06280/C94S FD P06280/C94Y FD P06280/W95S FD P06280/A97V FD P06280/R100K FD P06280/R100T FD P06280/R112C FD P06280/R112H FD P06280/R112S FD P06280/F113L FD P06280/F113S FD P06280/LA120PT FD P06280/L120V FD P06280/G128E FD P06280/L131P FD P06280/Y134S FD P06280/A135V FD P06280/G138R FD P06280/C142R FD P06280/C142Y FD P06280/A143P FD P06280/A143T FD P06280/G144V FD P06280/P146S FD P06280/S148N FD P06280/S148R FD P06280/A156T FD P06280/A156V FD P06280/W162C FD P06280/W162R FD P06280/G163V FD P06280/D165V FD P06280/L166V FD P06280/D170V FD P06280/G171D FD P06280/C172R FD P06280/C172Y FD P06280/G183D FD P06280/M187V FD P06280/S201F FD P06280/C202W FD P06280/C202Y FD P06280/P205T FD P06280/N215S FD P06280/Y216D FD P06280/I219N FD P06280/I219T FD P06280/C223G FD P06280/N224D FD P06280/N224S FD P06280/W226R FD P06280/R227Q FD P06280/A230T FD P06280/D231N FD P06280/D234E FD P06280/S235C FD P06280/W236C FD P06280/W236L FD P06280/I242N FD P06280/D244H FD P06280/D244N FD P06280/S247SWTS FD P06280/G258R FD P06280/P259L FD P06280/P259R FD P06280/G260A FD P06280/G261D FD P06280/N263S FD P06280/D264V FD P06280/D264Y FD P06280/P265R FD P06280/D266H FD P06280/D266N FD P06280/D266V FD P06280/M267I FD P06280/V269A FD P06280/N272K FD P06280/N272S FD P06280/S276G FD P06280/Q279E FD P06280/Q279H FD P06280/Q280H FD P06280/M284T FD P06280/A285P FD P06280/W287C FD P06280/W287G FD P06280/A288D FD P06280/I289F FD P06280/M296I FD P06280/M296V FD P06280/S297F FD P06280/N298H FD P06280/N298K FD P06280/N298S FD P06280/L300F FD P06280/R301Q FD P06280/D313Y FD P06280/V316E FD P06280/N320K FD P06280/N320Y FD P06280/Q321E FD P06280/Q327K FD P06280/G328A FD P06280/G328R FD P06280/G328V FD P06280/E338K FD P06280/W340R FD P06280/E341K FD P06280/R342Q FD P06280/R356Q FD P06280/R356W FD P06280/E358A FD P06280/E358K FD P06280/G360C FD P06280/G361R FD P06280/R363H FD P06280/G373D FD P06280/G373S FD P06280/A377D FD P06280/C378Y FD P06280/F396Y RNA edited version P06280/P409A FD P06280/P409T FD P06280/T410A FD P06280/L414S FD Q8N302/E133K KTS O00468/G1709R LGM O00468/V1727F LGM P30556/T282M RTD P50052/G21V MRX88 P50052/R324Q MRX88 P50052/I337V MRX88 Q8N157/V443D JBTS3 Q8N157/R723Q JBTS3 Q8N157/E1086G JBTS3 Q9GZX7/R24W HIGM2 Q9GZX7/W80R HIGM2 Q9GZX7/L106P HIGM2 Q9GZX7/M139V HIGM2 Q9GZX7/F151S HIGM2 Q5JUZ7/G308E COXPD6 Q5JUZ7/E493V COWCK Q9NZN9/C239R LCA4 Q9NZN9/R270H LCA4 O43918/R15C APS1 O43918/R15L APS1 O43918/T16M APS1 O43918/A21V APS1 O43918/L28P APS1 O43918/L29P APS1 O43918/F77S APS1 O43918/W78R APS1 O43918/V80L APS1 O43918/K83E APS1 O43918/Y85C APS1 O43918/Y90C APS1 O43918/L93R APS1 O43918/G228W APS1 O43918/P252L APS1 O43918/V301M APS1 O43918/C311Y APS1 O43918/P326L APS1 O43918/P326Q APS1 O43918/P539L APS1 P52895/I79V SRXY8 P52895/H90Q SRXY8 P52895/H222Q SRXY8 P52895/N300T SRXY8 P51857/L106F CBAS2 P51857/P133R CBAS2 P51857/P198L CBAS2 P51857/R261C CBAS2 Q9UQH3/S1582L LQT11 P31749/E17K PROTEUSS and breast cancer P31749/R25C CWD6 P31749/T435P CWD6 P31751/E17K HIHGHH P31751/R274H NIDDM Q9Y243/E17K MPPH and melanoma Q9Y243/N229S MPPH Q9Y243/R465W MPPH P47895/R89C MCOP8 P47895/A145V MCOP8 P47895/I369F MCOP8 P47895/A493P MCOP8 P51648/I45F SLS P51648/V64D SLS P51648/L106R SLS P51648/P114L SLS P51648/P121L SLS P51648/T184M SLS P51648/T184R SLS P51648/G185A SLS P51648/C214Y SLS P51648/C226W SLS P51648/R228C SLS P51648/C237Y SLS P51648/D245N SLS P51648/K266N SLS P51648/Y279N SLS P51648/AP314GAKSTVGA SLS P51648/P315S SLS P51648/M328I SLS P51648/S365L SLS P51648/N386S SLS P51648/G406R SLS P51648/H411Y SLS P51648/G412R SLS P51648/S415N SLS P51648/F419S SLS P51648/R423H SLS P51648/K447E SLS Q96IF0/S352L HP-2 P49419/A199V PDE P49419/G202V PDE P49419/G291E PDE P49419/N301I PDE P49419/R335Q PDE P49419/V395G PDE P49419/E427Q PDE P49419/S458N PDE Q9P157/R23C Redhill/Malmo-I/Tradate Q9P157/R23H Fukuoka-2/Lille/Taipei/Varese/ Komagome-3 Q9P157/R24L Jaffna Q9P157/R24P Takefu/Honolulu-1 Q9P157/R24Q Christchurch/Honolulu-2 Q9P157/D25V Bleinheim/Iowa city-2 Q9P157/H27Q Nagasaki-3 Q9P157/H27Y Larino Q9P157/E84K Torino Q9P157/D87N Malmo-95/Dalakarlia Q9P157/L90P FDH Q9P157/E106K Vibo Valentia Q9P157/R138G Yanomama-2 Q9P157/E143K Nagoya Q9P157/V146E Tregasio Q9P157/H152R Komagome-2 Q9P157/C201F Hawkes bay Q9P157/R242H FDH Q9P157/R242P FDH Q9P157/K249Q Tradate-2 Q9P157/K264E Herborn Q9P157/Q292R Malmo-10 Q9P157/D293G Nagasaki-1 Q9P157/K300N Caserta Q9P157/K337N Canterbury/New Guinea/ Tagliacozzo/Cuneo/Cooperstown Q9P157/D338G Bergamo Q9P157/D338V Brest Q9P157/N342K Malmo-47 Q9P157/A344T Redhill Q9P157/E345K Roma Q9P157/E357K Sondrio Q9P157/E378K Hiroshima-1 Q9P157/E382K Coari I/Porto Alegre Q9P157/K383N Trieste Q9P157/D389H Parklands Q9P157/D389V Iowa city-1 Q9P157/K396E Naskapi/Mersin/Komagome-1 Q9P157/D399N Nagasaki-2 Q9P157/E400K Tochigi Q9P157/E400Q Malmo-5 Q9P157/E406K Hiroshima-2 Q9P157/R434C Liprizzi Q9P157/E503K Dublin Q9P157/D518N Casebrook Q9P157/E525K Manaus-1/Adana/Lambadi/ Vancouver Q9P157/E529K Ortonovo Q9P157/V557M Maddaloni Q9P157/K560E Castel di Sangro Q9P157/K565E Maku Q9P157/D574A Malmo-61 Q9P157/D574G Mexico Q9P157/K584E Church bay Q9P157/D587N Fukuoka-1/Paris-2 Q9P157/E589K Osaka-1 Q9P157/E594K Osaka-2/Phnom Phen/albumin B/ Verona Q9P157/GKKLVAASQAALGL596PTMRIRERK Venezia Q9P157/K597E Gent/Milano Fast Q9P157/K598N Vanves Q9P157/LVAASQAALGL599TCCCKSSCLRLITSHLKASQPTMRIR Kenitra P04075/D129G GSD12 P04075/E207K GSD12 P04075/C339Y GSD12 P04075/G347S GSD12 P05062/I74T HFI P05062/C135R HFI P05062/A150P HFI P05062/A175D HFI P05062/C178R HFI P05062/P185R HFI P05062/V222F HFI P05062/L229P HFI P05062/L257P HFI P05062/L284P HFI P05062/R304Q HFI P05062/R304W HFI P05062/N335K HFI P05062/A338V HFI P84996/P374T GNASHYP P84996/P375PQPIPTPGRPLTP GNASHYP P84996/L397V GNASHYP Q2TAA5/L86S CDG1P Q2TAA5/Y279S CDG1P Q2TAA5/Q318P CDG1P Q2TAA5/L381S CDG1P Q2TAA5/E398K CDG1P Q9BV10/T67M CDG1G Q9BV10/G101R CDG1G Q9BV10/F142V CDG1G Q9BV10/R146Q CDG1G Q9BV10/L158P CDG1G B7ZAJ1/K94E CDG1S Q9BT22/S150R CDG1K Q9BT22/S258L CDG1K Q9BT22/Q342P CDG1K Q92685/G118D CDG1D Q92685/R171Q CDG1D Q9Y672/Y131H CDG1C Q9Y672/S170I CDG1C Q9Y672/G227E CDG1C Q9Y672/S308R CDG1C Q9Y672/A333V CDG1C Q9Y672/S478P CDG1C Q9BVK2/T47P CDG1H Q9BVK2/G275D CDG1H Q9H6U8/Y287C CDG1L Q9H6U8/E523K CDG1L Q9UM73/D1091N NBLST3 Q9UM73/G1128A NBLST3 Q9UM73/T1151M NBLST3 Q9UM73/M1166R NBLST3 Q9UM73/I1171N NBLST3 Q9UM73/F1174C NBLST3 Q9UM73/F1174I NBLST3 Q9UM73/F1174L NBLST3 Q9UM73/F1174V NBLST3 Q9UM73/R1192P NBLST3 Q9UM73/A1234T NBLST3 Q9UM73/F1245C NBLST3 Q9UM73/F1245V NBLST3 Q9UM73/I1250T NBLST3 Q9UM73/R1275Q NBLST3 Q9UM73/Y1278S NBLST3 P55789/R194H MPMCHD O95076/L168V FND1 O95076/R183W FND1 O95076/R196W FND1 O95076/N203S FND1 Q9H161/R218Q PFM2 Q9H161/R272P PFM2 Q9Y3Q1/S52P AMACRD and CBAS4 Q9Y3Q1/L107P CBAS4 Q99217/W4S AI1E Q99217/ILFA5T AI1E Q99217/T37I AI1E Q99217/P56T AI1E Q16671/R54C PMDS2 Q16671/G142V PMDS2 Q16671/H282Q PMDS2 Q16671/R406Q PMDS2 Q16671/D426G PMDS2 Q16671/V458A PMDS2 Q16671/D491H PMDS2 Q16671/R504C PMDS2 Q9BXJ7/T41I RH-MGA1 P23109/R421W AMPDDM P23109/R458H AMPDDM Q01432/N310K AMPDDE Q01432/V311L AMPDDE Q01432/A320V AMPDDE Q01432/M324T AMPDDE Q01432/R331C AMPDDE Q01432/R402C AMPDDE Q01432/W450R AMPDDE Q01432/R573C AMPDDE Q01432/P585L AMPDDE Q01432/Q712P AMPDDE P54802/L35F MPS3B P54802/R38W MPS3B P54802/F48C MPS3B P54802/F48L MPS3B P54802/G69S MPS3B P54802/V77G MPS3B P54802/G79C MPS3B P54802/G79S MPS3B P54802/G82D MPS3B P54802/Y92H MPS3B P54802/H100R MPS3B P54802/P115S MPS3B P54802/R130C MPS3B P54802/Y140C MPS3B P54802/E153K MPS3B P54802/I154R MPS3B P54802/W156C MPS3B P54802/H227P MPS3B P54802/R234C MPS3B P54802/V241M MPS3B P54802/L242P MPS3B P54802/P243L MPS3B P54802/A246P MPS3B P54802/H248R MPS3B P54802/W268R MPS3B P54802/C277F MPS3B P54802/L280P MPS3B P54802/G292R MPS3B P54802/Y309C MPS3B P54802/F314L MPS3B P54802/V334F MPS3B P54802/Y335C MPS3B P54802/P358L MPS3B P54802/F410S MPS3B P54802/G412E MPS3B P54802/H414R MPS3B P54802/T437I MPS3B P54802/E446K MPS3B P54802/E452K MPS3B P54802/Y455C MPS3B P54802/W474G MPS3B P54802/R482Q MPS3B P54802/R482W MPS3B P54802/V501G MPS3B P54802/P516L MPS3B P54802/R520W MPS3B P54802/P521L MPS3B P54802/S534Y MPS3B P54802/L560P MPS3B P54802/L561R MPS3B P54802/R565P MPS3B P54802/R565Q MPS3B P54802/R565W MPS3B P54802/L591P MPS3B P54802/S612G MPS3B P54802/L617F MPS3B P54802/R643C MPS3B P54802/R643H MPS3B P54802/W649C MPS3B P54802/G650E MPS3B P54802/Y658F MPS3B P54802/A664V MPS3B P54802/R674C MPS3B P54802/R674H MPS3B P54802/R676P MPS3B P54802/L682R MPS3B P54802/E705K MPS3B P10275/E2K PAIS P10275/Q194R AIS P10275/G214R AIS P10275/L255P AIS P10275/P390R AIS P10275/P390S AIS P10275/Q443R AIS P10275/G491S AIS P10275/L547F PAIS P10275/P548S AIS P10275/C559Y AIS P10275/G568W PAIS P10275/Y571C AIS P10275/A573D AIS P10275/C576F AIS P10275/C576R AIS P10275/C579F AIS P10275/C579Y AIS P10275/V581F AIS P10275/F582S PAIS P10275/F582Y PAIS P10275/R585K AIS P10275/A596T AIS P10275/S597G PAIS P10275/C601F AIS P10275/D604Y PAIS P10275/R607Q PAIS and breast cancer P10275/R608K PAIS and breast cancer P10275/N610T PAIS P10275/C611Y AIS P10275/R615H AIS and PAIS P10275/R615P AIS P10275/L616P AIS P10275/L616R PAIS P10275/R617P AIS and PAIS P10275/I664N AIS and PAIS P10275/P671H PAIS P10275/L677P AIS P10275/E681K AIS P10275/P682T PAIS P10275/V684I AIS P10275/C686R PAIS P10275/A687V PAIS P10275/G688E AIS P10275/D695H AIS P10275/D695N AIS P10275/D695V AIS P10275/L700M AIS P10275/L701F AIS P10275/L701H AIS and prostate cancer P10275/S702A AIS P10275/S703C AIS P10275/S703G PAIS and AIS P10275/N705S AIS P10275/N705Y AIS P10275/L707R AIS P10275/G708A PAIS P10275/G708V AIS P10275/R710T AIS P10275/Q711E PAIS P10275/L712F PAIS P10275/L722F AIS P10275/P723S AIS P10275/G724D AIS and prostate cancer P10275/N727K AIS P10275/L728S PAIS P10275/D732N AIS P10275/D732Y AIS P10275/Q733H PAIS P10275/I737T PAIS P10275/W741R AIS P10275/M742I PAIS P10275/M742V PAIS P10275/G743E AIS P10275/G743V PAIS and AIS P10275/L744F AIS and prostate cancer P10275/M745T PAIS P10275/V746M PAIS P10275/A748D PAIS P10275/M749V PAIS and AIS P10275/G750D AIS P10275/W751R AIS P10275/R752Q AIS P10275/F754L PAIS and prostate cancer P10275/F754V AIS P10275/N756S PAIS P10275/N758T PAIS P10275/S759F AIS P10275/L762F AIS P10275/Y763C PAIS and prostate cancer P10275/Y763H AIS P10275/F764L AIS P10275/A765T AIS P10275/A765V AIS P10275/P766S AIS P10275/D767E AIS P10275/L768P AIS P10275/N771H PAIS P10275/E772A PAIS P10275/E772G PAIS P10275/R774C AIS P10275/R774H AIS and PAIS P10275/R779W AIS P10275/M780I PAIS and AIS P10275/C784Y AIS P10275/M787V AIS P10275/R788S AIS P10275/L790F AIS P10275/F794S AIS P10275/Q798E PAIS, AIS and prostate cancer P10275/C806Y PAIS P10275/M807R AIS P10275/M807T PAIS P10275/M807V AIS P10275/L812F AIS P10275/S814N AIS and PAIS P10275/G820A AIS P10275/L821V PAIS P10275/F827V PAIS P10275/R831L AIS P10275/R831Q AIS P10275/Y834C AIS P10275/R840C AIS P10275/R840G PAIS P10275/R840H AIS P10275/R840S PAIS P10275/I841S PAIS P10275/I842T AIS P10275/R854K PAIS P10275/R855C AIS P10275/R855H AIS P10275/F856L AIS P10275/L863R AIS P10275/D864G AIS P10275/D864N AIS P10275/S865P AIS P10275/V866E AIS P10275/V866L PAIS P10275/V866M AIS and prostate cancer P10275/I869M PAIS P10275/A870G PAIS P10275/A870V PAIS P10275/R871G AIS P10275/H874R AIS P10275/D879Y AIS P10275/L881V AIS P10275/M886V AIS P10275/V889M AIS and PAIS P10275/P892L AIS P10275/M895T AIS P10275/I898T AIS P10275/V903M PAIS P10275/P904H AIS P10275/P904S AIS P10275/L907F AIS P10275/G909R PAIS P10275/V911L PAIS P10275/P913S PAIS P10275/F916L AIS P10275/H917R AIS P03950/F12S ALS9 P03950/P20S ALS9 P03950/Q36L ALS9 P03950/K41E ALS9 P03950/K41I ALS9 P03950/S52N ALS9 P03950/R55K ALS9 P03950/C63W ALS9 P03950/K64I ALS9 P03950/P136L ALS9 P03950/V137I ALS9 P03950/H138R ALS9 P01019/R375Q RTD Q8N604/L276R SPH1 Q8N604/V463I SPH1 Q8N604/R619H Brueggen Q8N604/I1054T SPH1 Q8N604/D1592N Duesseldorf Q01484/E1458G LQT4 Q01484/L3740I LQT4 Q01484/T3744N LQT4 Q01484/R3906W LQT4 Q01484/E3931K LQT4 Q9HCJ1/P5L CCAL2 Q9HCJ1/P5T CCAL2 Q9HCJ1/M48T CCAL2 Q9HCJ1/W292R CMDJ Q9HCJ1/C331R CMDJ Q9HCJ1/P380PA CMDJ Q9HCJ1/G389R CMDJ Q15327/T116M TAPVR Q8N9L6/A312P NPHP16 Q8N9L6/Q441R NPHP16 C9JHS1/L510R SCAR10 Q9BYT9/W490C DYT24 Q9BYT9/R494W DYT24 Q9BYT9/S685G DYT24 Q9BYT9/K862N DYT24 Q75V66/G231V LGMD2L Q75V66/C356G GDD Q75V66/C356R GDD Q75V66/W655C MMD3 Q75V66/R758C MMD3 Q8TA93/P32T AMDM Q8TA93/W115G AMDM Q8TA93/D176E AMDM Q8TA93/T297M AMDM Q8TA93/Y338C AMDM Q8TA93/A409T AMDM Q8TA93/G413E AMDM Q8TA93/Y708C AMDM Q8TA93/R776W AMDM Q8TA93/R957C AMDM Q8TA93/G959A AMDM Q9UC78/Y17S AT3D Q9UC78/L23P AT3D Q9UC78/V30E Dublin Q9UC78/C32R AT3D Q9UC78/I39N AT3D Q9UC78/R56C AT3D Q9UC78/P73L AT3D Q9UC78/R79C AT3D Q9UC78/R79H AT3D Q9UC78/R79S AT3D Q9UC78/R89C AT3D Q9UC78/F90L AT3D Q9UC78/Y95C AT3D Q9UC78/Y95S AT3D Q9UC78/L98P AT3D Q9UC78/P112T AT3D Q9UC78/M121K AT3D Q9UC78/C127R AT3D Q9UC78/L131F AT3D Q9UC78/L131V AT3D Q9UC78/Q133K AT3D Q9UC78/K146E AT3D Q9UC78/S148P AT3D Q9UC78/Q150P AT3D Q9UC78/H152Y AT3D Q9UC78/L158P AT3D Q9UC78/C160Y AT3D Q9UC78/R161Q AT3D Q9UC78/L178H AT3D Q9UC78/F179L AT3D Q9UC78/Y198C AT3D Q9UC78/Y198H AT3D Q9UC78/S214F AT3D Q9UC78/S214Y AT3D Q9UC78/N219D AT3D Q9UC78/N219K AT3D Q9UC78/S223P AT3D Q9UC78/T243I AT3D Q9UC78/I251T AT3D Q9UC78/W257R AT3D Q9UC78/F261L AT3D Q9UC78/E269K AT3D Q9UC78/M283I AT3D Q9UC78/M283V AT3D Q9UC78/L302P AT3D Q9UC78/I316N AT3D Q9UC78/S323P AT3D Q9UC78/E334K AT3D Q9UC78/S381P AT3D Q9UC78/S397P AT3D Q9UC78/D398H AT3D Q9UC78/S412R AT3D Q9UC78/A414T AT3D Q9UC78/A416P AT3D Q9UC78/A416S AT3D Q9UC78/A419V AT3D Q9UC78/G424D AT3D Q9UC78/R425C AT3D Q9UC78/R425H AT3D Q9UC78/R425P AT3D Q9UC78/S426L AT3D Q9UC78/F434C AT3D Q9UC78/F434L AT3D Q9UC78/F434S AT3D Q9UC78/A436T AT3D Q9UC78/N437K AT3D Q9UC78/R438G AT3D Q9UC78/R438M AT3D Q9UC78/P439L AT3D Q9UC78/P439T AT3D Q9UC78/L441P AT3D Q9UC78/I453T AT3D Q9UC78/G456R AT3D Q9UC78/R457T AT3D Q9UC78/A459D AT3D Q9UC78/P461L AT3D Q9UC78/C462F AT3D Q9H6X2/A326T HCI susceptibility P58335/L45P HFS P58335/G105D HFS P58335/I189T HFS P58335/C218R HFS P58335/V293VQ HFS P58335/L329R HFS P58335/Y381C HFS P05549/L249P BOFS P05549/R254G BOFS P05549/R255G BOFS P05549/G262E BOFS Q92481/P73R CHAR Q92481/R236C CHAR Q92481/R236S CHAR Q92481/A275D CHAR Q92481/R285Q CHAR Q92481/R300C CHAR P53680/R15C HHC3 P53680/R15H HHC3 P53680/R15L HHC3 O00203/L580R HPS2 Q8J025/L9R HYPT1 P25054/R99W FAP P25054/S171I FAP P25054/R414C FAP P25054/S722G FAP P25054/S784T FAP P25054/E911G FAP and colorectal tumor P25054/P1176L FAP P25054/A1184P FAP P25054/A1296V MDB P25054/I1307K 6% of Ashkenazi Jews P25054/T1313A FAP and colorectal tumor P25054/R1348W FAP P25054/V1472I MDB P25054/S1495G MDB P25054/S2621C FAP P25054/L2839F FAP P02647/P27H Munster-3C P02647/P28R Munster-3B P02647/R34L Baltimore P02647/G50R AMYL8 P02647/L84R AMYL8 P02647/A119D Hita P02647/D127N Munster-3A P02647/W132R Tsushima P02647/E134K Fukuoka P02647/E160K Norway P02647/P167R Giessen P02647/L168R Zaragoza P02647/V180E Oita P02647/R197C Milano P02647/E222K Munster-4 P06727/E44K Budapest-2 P06727/A161S Seattle-3 P06727/S178L Seattle-1 P06727/R264Q Seattle-2 P06727/R305C Budapest-1 Q13787/R490W FHBL1 Q13787/R3527Q FDB Q13787/R3558C FDB P02655/W48R HLPP1B P02655/E60K San Francisco P02655/K77Q Africa P02656/K78E HALP2 P02656/T94A C-III-0 P02649/E31K HLPP3 P02649/R43C LPG P02649/C130R HLPP3 P02649/G145GEVQAMLG HLPP3 P02649/R154C HLPP3 P02649/R154S HLPP3 P02649/R160C HLPP3 P02649/R163C HLPP3 P02649/R163H E3 Kochi P02649/R163P LPG P02649/K164E HLPP3 P02649/K164Q HLPP3 P02649/R176C HLPP3 P02649/EE262KK HLPP3 P02749/V266L 23% of the population Q96PM4/S342G FSGS4 Q96PM4/I384M FSGS4 Q9NXM5/K211Q AOA Q9NXM5/A212V AOA Q9NXM5/R213H AOA Q9NXM5/H215R AOA Q9NXM5/P220L AOA Q9NXM5/L237P AOA Q9NXM5/V277G AOA Q9NXM5/D281G AOA Q9NXM5/W293R AOA P07741/L33P APRTD P07741/D65V APRTD P07741/V84M APRTD P07741/L110P APRTD P07741/G133D APRTD P07741/M136T APRTD P07741/V150F APRTD P07741/C153R APRTD P29972/P38L Co(A-B- P29972/A45V Co(A-B+ P41181/L22V ANDI P41181/L28P ANDI P41181/A47V ANDI P41181/Q57P ANDI P41181/G64R ANDI P41181/N68S ANDI P41181/A70D ANDI P41181/V71M ANDI P41181/G100R ANDI P41181/G100V ANDI P41181/T125M ANDI P41181/T126M ANDI P41181/A147T ANDI P41181/V168M ANDI P41181/G175R ANDI P41181/G180S ANDI P41181/C181W ANDI P41181/P185A ANDI P41181/R187C ANDI P41181/R187H ANDI P41181/A190T ANDI P41181/W202C ANDI P41181/S216P ANDI P41181/R254L ANDI P41181/R254Q ANDI P41181/E258K ANDI P41181/P262L ANDI Q3SXY8/R79Q JBTS8 Q3SXY8/R200C JBTS8 Q66PJ3/K225R RNA edited version P05089/I11T ARGIN P05089/G138V ARGIN P05089/G235R ARGIN O43307/G55A EIEE8 O15013/T357I SNCV Q5SW96/S202H ARH Q9H0F7/T31M BBS3 Q9H0F7/T31R BBS3 Q9H0F7/A89V RP55 Q9H0F7/G169A BBS3 Q9H0F7/L170W BBS3 P04424/D31N ARGINSA P04424/R95C ARGINSA P04424/R111W ARGINSA P04424/R113Q ARGINSA P04424/V178M ARGINSA P04424/R186Q ARGINSA P04424/R193Q ARGINSA P04424/R236W ARGINSA P04424/Q286R ARGINSA P04424/V335L ARGINSA P04424/R379C ARGINSA P04424/M382R ARGINSA P04424/R385C ARGINSA P04424/R456W ARGINSA P15289/A18D MLD P15289/D29N MLD P15289/D30H MLD P15289/G32S MLD P15289/L52P MLD P15289/L68P MLD P15289/P82L MLD P15289/R84Q MLD P15289/R84W MLD P15289/G86D MLD P15289/P94A MLD P15289/S95N MLD P15289/S96F MLD P15289/S96L MLD P15289/G99D MLD P15289/G99V MLD P15289/G119R MLD P15289/G122S MLD P15289/L135P MLD P15289/P136L MLD P15289/P136S MLD P15289/H138D MLD P15289/R143G MLD P15289/P148L MLD P15289/D152Y MLD P15289/Q153H MLD P15289/G154D MLD P15289/P155L MLD P15289/P155R MLD P15289/C156R MLD P15289/P167R MLD P15289/D169N MLD P15289/C172Y MLD P15289/I179S MLD P15289/L181Q MLD P15289/Q190H MLD P15289/P191T MLD P15289/Y201C MLD P15289/A212P MLD P15289/A212V MLD P15289/R217H MLD P15289/F219V MLD P15289/A224V MLD P15289/H227Y MLD P15289/P231T MLD P15289/R244C MLD P15289/R244H MLD P15289/G245R MLD P15289/F247S MLD P15289/S250Y MLD P15289/E253K MLD P15289/D255H MLD P15289/T274M MLD P15289/D281Y MLD P15289/N282S MLD P15289/T286P MLD P15289/R288C MLD P15289/R288H MLD P15289/G293D MLD P15289/G293S MLD P15289/C294Y MLD P15289/S295Y MLD P15289/L298S MLD P15289/C300F MLD P15289/K302N MLD P15289/T304M MLD P15289/Y306H MLD P15289/E307K MLD P15289/G308D MLD P15289/G308V MLD P15289/G309S MLD P15289/R311Q MLD P15289/E312D MLD P15289/A314T MLD P15289/G325S MLD P15289/T327I MLD P15289/D335V MLD P15289/K367N MLD P15289/R370Q MLD P15289/R370W MLD P15289/Y376N MLD P15289/P377L MLD P15289/D381E MLD P15289/E382K MLD P15289/R384C MLD P15289/R390Q MLD P15289/R390W MLD P15289/H397Y MLD P15289/S406G MLD P15289/T408I MLD P15289/T409I MLD P15289/P425T MLD P15289/P426L MLD P15289/L428P MLD P15289/Y429S MLD P15289/A469G MLD P15289/C489G MLD P15848/S65F MPS6 P15848/T92M MPS6 P15848/R95Q MPS6 P15848/P116H MPS6 P15848/C117R MPS6 P15848/G137V MPS6 P15848/M142I MPS6 P15848/G144R MPS6 P15848/W146L MPS6 P15848/W146R MPS6 P15848/W146S MPS6 P15848/R152W MPS6 P15848/R160Q MPS6 P15848/C192R MPS6 P15848/Y210C MPS6 P15848/L236P MPS6 P15848/Q239R MPS6 P15848/G302R MPS6 P15848/W312C MPS6 P15848/R315Q MPS6 P15848/L321P MPS6 P15848/S384N MPS6 P15848/H393P MPS6 P15848/F399L MPS6 P15848/C405Y MPS6 P15848/R484G MPS6 P15848/L498P MPS6 P15848/C521Y MPS6 P15848/P531R MPS6 P51690/R12S CDPX1 P51690/I80N CDPX1 P51690/R111P CDPX1 P51690/G117R CDPX1 P51690/G137V CDPX1 P51690/G245R CDPX1 P51690/T481M CDPX1 P51690/C492Y CDPX1 P51690/P578S CDPX1 Q96QS3/L33P MRXARX Q96QS3/A115AAAAAAAA EIEE1 Q96QS3/A155AAAAAAAAA EIEE1 and PRTS Q96QS3/G286S MRXARX Q96QS3/R332H LISX2 Q96QS3/R332P LISX2 Q96QS3/T333N ACCAG Q96QS3/L343Q LISX2 Q96QS3/P353L EIEE1 Q96QS3/P353R LISX2 Q96QS3/A521T LISX2 Q13510/Q22H FL Q13510/H23D FL Q13510/Y36C FL Q13510/T42M SMAPME Q13510/V97E FL Q13510/E138V FL Q13510/L182V FL Q13510/T222K FL Q13510/G235R FL Q13510/R254G FL Q13510/N320D FL Q13510/P362R FL Q8WXI3/T48S GLC1F Q8WXI3/G65E GLC1F Q8WXI3/V67M GLC1F Q8WXI3/R72H GLC1F Q8WXI3/R94Q GLC1F Q8WXI3/D97E GLC1F Q8WXI3/R183C GLC1F Q8WXI3/A197V GLC1F Q8WXI3/V207L GLC1F Q8WXI3/R272H GLC1F Q8WXI3/Q295L GLC1F Q8WXI3/A320T GLC1F Q8WXI3/H332Q GLC1F Q8WXI3/H356Y GLC1F Q8WXI3/R360H GLC1F Q8WXI3/S440G GLC1F P17405/D49V NPDB P17405/C92W NPDB P17405/L103P NPDA and NPDB P17405/V130A NPDB P17405/L137P NPDB P17405/C157R NPDB P17405/G166R NPDB P17405/I176N NPDB P17405/P184L NPDA/NPDB P17405/A196P NPDB P17405/R200C NPDB P17405/W209R NPDA P17405/L225M NPDB P17405/L225P NPDB P17405/R228C NPDB P17405/R228H NPDA/NPDB P17405/G232D NPDB P17405/A241V NPDA/NPDB P17405/G242R NPDB P17405/W244C NPDB P17405/G245S NPDA and NPDB P17405/E246K NPDA P17405/E246Q NPDB P17405/S248R NPDA and NPDB P17405/D251E NPDA/NPDB P17405/D251H NPDA P17405/D278A NPDA/NPDB P17405/A281T NPDB P17405/R289H NPDB P17405/Q292K NPDA/NPDB P17405/R294Q NPDA P17405/L302P NPDA P17405/V312M NPDB P17405/Y313H NPDA P17405/H319Y NPDA P17405/P323A NPDB P17405/P330R NPDB P17405/L341P NPDA/NPDB P17405/A357D NPDB P17405/Y367C NPDA P17405/P371S NPDB P17405/R376H NPDB P17405/R376L NPDB P17405/S379P NPDB P17405/M382I NPDA and NPDB P17405/N383S NPDB P17405/N389T NPDA P17405/W391G NPDB P17405/A413V NPDB P17405/H421R NPDA P17405/H421Y NPDB P17405/H425R NPDB P17405/C431R NPDB P17405/L432P NPDB P17405/W435C NPDB P17405/S436R NPDB P17405/Y446C NPDA P17405/L450P NPDA P17405/A451D NPDB P17405/A452V NPDB P17405/G456D NPDB P17405/F463S NPDA P17405/Y467S NPDA P17405/R474W NPDB P17405/P475L NPDA and NPDB P17405/F480L NPDB P17405/A482E NPDA P17405/A485V NPDB P17405/T486A NPDB P17405/Y488N NPDB P17405/G494S NPDB P17405/R496C NPDB P17405/R496H NPDA P17405/R496L NPDA P17405/H514Q NPDB P17405/E515V NPDB P17405/Y517C NPDA P17405/N520S NPDB P17405/Q523H NPDB P17405/W533R NPDB P17405/Y537H NPDA P17405/L549P NPDB P17405/D563Y NPDB P17405/K576N NPDB P17405/G577S NPDA P17405/R600H NPDB P17405/R600P NPDB P20933/V12L AGU P20933/G60D AGU P20933/S72P AGU P20933/G100E AGU P20933/A101V AGU P20933/F135S AGU P20933/R161Q AGU P20933/C163S AGU P20933/G252E AGU P20933/G252R AGU P20933/T257I AGU P20933/G302R AGU P20933/C306R AGU P00966/G14S CTLN1 P00966/S18L CTLN1 P00966/C19R CTLN1 P00966/Q40L CTLN1 P00966/V69A CTLN1 P00966/S79P CTLN1 P00966/R86C CTLN1 P00966/R86H CTLN1 P00966/R95S CTLN1 P00966/P96H CTLN1 P00966/P96S CTLN1 P00966/R108L CTLN1 P00966/G117D CTLN1 P00966/G117S CTLN1 P00966/A118T CTLN1 P00966/T119I CTLN1 P00966/D124N CTLN1 P00966/R127Q CTLN1 P00966/R127W CTLN1 P00966/R157C CTLN1 P00966/R157H CTLN1 P00966/L160P CTLN1 P00966/W179R CTLN1 P00966/S180N CTLN1 P00966/Y190D CTLN1 P00966/E191K CTLN1 P00966/E191Q CTLN1 P00966/A192V CTLN1 P00966/A202E CTLN1 P00966/L206P CTLN1 P00966/V263M CTLN1 P00966/R265C CTLN1 P00966/R265H CTLN1 P00966/V269M CTLN1 P00966/E270Q CTLN1 P00966/R272C CTLN1 P00966/K277T CTLN1 P00966/R279Q CTLN1 P00966/G280R CTLN1 P00966/E283K CTLN1 P00966/T284I CTLN1 P00966/Y291S CTLN1 P00966/D296G CTLN1 P00966/M302V CTLN1 P00966/R304W CTLN1 P00966/R307C CTLN1 P00966/K310Q CTLN1 P00966/K310R CTLN1 P00966/G324S CTLN1 P00966/G324V CTLN1 P00966/S341F CTLN1 P00966/V345G CTLN1 P00966/G347R CTLN1 P00966/Y359D CTLN1 P00966/G362V CTLN1 P00966/R363G CTLN1 P00966/R363L CTLN1 P00966/R363Q CTLN1 P00966/R363W CTLN1 P00966/T389I CTLN1 P00966/G390R CTLN1 Q9NQ11/F182L KRS Q9NQ11/G504R KRS Q9NQ11/G877R KRS Q9NQ11/L1059R KRS P50993/T378N AHC1 P50993/R689Q FHM2 P50993/G715R FHM2 P50993/M731T FHM2 P50993/L764P FHM2 P50993/G874S FHM2 P50993/W887R FHM2 P50993/R1007W FHM2 P13637/S137F AHC2 P13637/S137Y AHC2 P13637/Q140L AHC2 P13637/D220N AHC2 P13637/I274N AHC2 P13637/I274T DYT12 P13637/E277K DYT12 P13637/C333F AHC2 P13637/T613M DYT12 P13637/G755S AHC2 P13637/I758S DYT12 P13637/N773S AHC2 P13637/F780L DYT12 P13637/D801N AHC2 P13637/D801Y DYT12 P13637/M806R AHC2 P13637/I810S AHC2 P13637/S811P AHC2 P13637/E815K AHC2 P13637/D923N DYT12 P13637/G947R AHC2 P13637/A955D AHC2 P13637/D992Y AHC2 P13637/Y1013YY DYT12 O14983/P789L BRM P16615/G23E DD P16615/N39T DD P16615/K47KMFLTGK DD P16615/L65S DD P16615/R131Q DD P16615/P160L DD P16615/S186P DD P16615/G211D DD P16615/V223M DD P16615/C268F DD P16615/G310V DD P16615/C318R DD P16615/I348T DD P16615/T357K DD P16615/E412G DD P16615/S495F DD P16615/C560R DD P16615/P602L AKV P16615/F675S DD P16615/K683E DD P16615/D702N DD P16615/A745D DD P16615/G749R DD P16615/S765L DD P16615/N767S DD P16615/G769R DD P16615/A803T DD P16615/A838P DD P16615/V843F DD P16615/C875G DD P16615/S920Y DD P16615/H943R DD P16615/P975R DD Q16720/G1107D SCAX1 Q86V73/P201L HHD Q86V73/A304T HHD Q86V73/G309C HHD Q86V73/L318P HHD Q86V73/L341P HHD Q86V73/C344Y HHD Q86V73/C411R HHD Q86V73/C490F HHD Q86V73/T570I HHD Q86V73/I580V HHD Q86V73/L584P HHD Q86V73/M641R HHD Q86V73/G645R HHD Q86V73/T709M HHD Q86V73/D742Y HHD Q86V73/P744R HHD Q86V73/G789R HHD Q8IUZ5/G240R PHLU Q8IUZ5/E437V PHLU Q9NTI2/I336M CMARQ4 O43520/N45T ICP1 O43520/D70N BRIC1 O43520/L127P PFIC1 O43520/K203E ICP1 O43520/L288S PFIC1 O43520/G308D BRIC1 O43520/G308V PFIC1 O43520/I344F BRIC1 O43520/S403Y PFIC1 O43520/R412P PFIC1 O43520/S453Y BRIC1 O43520/D454G BRIC1 O43520/T456M PFIC1 O43520/Y500H PFIC1 O43520/H535L PFIC1 O43520/D554N PFIC1 O43520/R600Q BRIC1 O43520/R600W BRIC1 O43520/R628W BRIC1 O43520/I661T BRIC1 and PFIC1 O43520/D688G PFIC1 O43520/I694T BRIC1 O43520/G733R PFIC1 O43520/F853S PFIC1 O43520/R867C ICP1 O43520/G892R PFIC1 and BRIC1 O43520/G1040R PFIC1 Q86WG3/S301R ATCAY Q86TH1/W50C GPHYSD1 Q86TH1/R72Q GPHYSD1 Q86TH1/R113H GPHYSD1 Q86TH1/E114K GPHYSD1 Q86TH1/P147L GPHYSD1 Q86TH1/R159W GPHYSD1 Q86TH1/A165T GPHYSD1 Q86TH1/C171R GPHYSD1 Q86TH1/R221C GPHYSD1 Q86TH1/A239T GPHYSD1 Q86TH1/R593C GPHYSD1 Q86TH1/S635L GPHYSD1 Q86TH1/G811R GPHYSD1 Q86TH1/P906L GPHYSD1 Q8WXF7/E66Q HSN1D Q8WXF7/Q154E SPG3 Q8WXF7/L157W SPG3 Q8WXF7/A161P SPG3 Q8WXF7/R217Q SPG3 Q8WXF7/R239C SPG3 Q8WXF7/H247P SPG3 Q8WXF7/V253I SPG3 Q8WXF7/H258R SPG3 Q8WXF7/S259Y SPG3 Q8WXF7/N355K HSN1D Q8WXF7/M408V SPG3 Q8WXF7/F413V SPG3 Q8WXF7/R415W SPG3 Q8WXF7/N440T SPG3 Q8WXF7/R495W SPG3 Q13315/K224E AT Q13315/P292L AT Q13315/I323V AT Q13315/Y332C B-cell chronic lymphocytic leukemia Q13315/A350T B-cell chronic lymphocytic leukemia Q13315/I352T B-cell chronic lymphocytic leukemia Q13315/F570S AT Q13315/YSS705FIP AT Q13315/N768D AT Q13315/R785C AT Q13315/L950R AT Q13315/L1001Q AT Q13315/M1040V B-cell non-Hodgkin lymphoma Q13315/H1082L AT Q13315/E1091D AT Q13315/I1407T T-prolymphocytic leukemia Q13315/L1420P AT Q13315/F1463S B-cell non-Hodgkin lymphoma Q13315/L1465P AT Q13315/P1566R AT Q13315/D1682H T-prolymphocytic leukemia Q13315/S1691R AT and B-cell chronic lymphocytic leukemia Q13315/T1743I AT Q13315/AF1812V AT Q13315/L1910H T-prolymphocytic leukemia Q13315/V1913G AT Q13315/T1953R B-cell chronic lymphocytic leukemia Q13315/D2016G AT Q13315/G2063E AT Q13315/A2067D AT Q13315/E2139G T-prolymphocytic leukemia Q13315/E2164K T-prolymphocytic leukemia Q13315/S2218C AT Q13315/MALR2224IS AT Q13315/R2227C AT Q13315/CIKDILT2246H AT Q13315/A2274T B-cell chronic lymphocytic leukemia Q13315/T2396S T-prolymphocytic leukemia Q13315/A2420P B-cell chronic lymphocytic leukemia Q13315/V2424G AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia Q13315/Q2442P T-prolymphocytic leukemia Q13315/Y2470D AT Q13315/R2486G T-prolymphocytic leukemia Q13315/W2491R AT Q13315/H2554D AT Q13315/DA2625EP AT Q13315/D2625Q AT Q13315/L2656P AT Q13315/E2668G AT Q13315/G2695A T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia Q13315/I2702R AT Q13315/L2722R T-prolymphocytic leukemia Q13315/D2725G T-prolymphocytic leukemia Q13315/D2725V T-prolymphocytic leukemia Q13315/A2726V AT Q13315/F2732L T-prolymphocytic leukemia Q13315/C2824Y AT Q13315/F2827C AT Q13315/P2829L AT Q13315/R2832C AT and B-cell non-Hodgkin lymphoma Q13315/R2849P AT Q13315/SV2855RI AT Q13315/S2855R AT Q13315/G2867R AT Q13315/RH2871S T-prolymphocytic leukemia Q13315/L2890V T-prolymphocytic leukemia Q13315/E2904G AT Q13315/R2909G AT Q13315/A3006P T-prolymphocytic leukemia Q13315/R3008C AT, T-prolymphocytic leukemia and mantle cell lymphoma Q13315/R3008H B-cell chronic lymphocytic leukemia Q13315/K3018N B-cell chronic lymphocytic leukemia P54710/G41R HOMG2 P56381/Y12C MC5DN3 Q8HNQ4/L156P LS and MC5DM1 Q8HNQ4/L156R NARP and LS Q8HNQ4/I192T LHON Q8HNQ4/L217P LS and MIBSN Q04656/A629P MNKD Q04656/S637L OHS Q04656/L706R MNKD Q04656/G727R MNKD Q04656/R844H MNKD Q04656/G853R MNKD Q04656/G860V MNKD Q04656/L873R MNKD Q04656/G876E MNKD Q04656/G876R MNKD Q04656/Q924R MNKD Q04656/T994I DSMAX3 Q04656/C1000R MNKD Q04656/L1006P MNKD Q04656/A1007V MNKD Q04656/G1015D MNKD Q04656/G1019D MNKD Q04656/D1044G MNKD Q04656/T1048I MNKD Q04656/L1100P MNKD Q04656/G1118D MNKD Q04656/G1255R MNKD Q04656/K1282E MNKD Q04656/G1300E MNKD Q04656/G1302R MNKD Q04656/G1302V MNKD Q04656/N1304K MNKD Q04656/N1304S OHS Q04656/D1305A MNKD Q04656/G1315R MNKD Q04656/A1325V MNKD Q04656/S1344R MNKD Q04656/I1345F MNKD Q04656/A1362V MNKD Q04656/G1369R MNKD Q04656/P1386S DSMAX3 Q04656/S1397F MNKD P35670/N41S WD P35670/G85V WD P35670/A486S WD P35670/L492S WD P35670/Y532H WD P35670/V536A WD P35670/L549P WD P35670/G591D WD P35670/A604P WD P35670/FD608Y WD P35670/R616Q WD P35670/R616W WD P35670/G626A WD P35670/H639Y WD P35670/L641S WD P35670/D642H WD P35670/M645R WD P35670/S653Y WD P35670/S657R WD P35670/M665I WD P35670/P690L WD P35670/G691R WD P35670/S693C WD P35670/C703Y WD P35670/L708P WD P35670/G710A WD P35670/G710R WD P35670/G710S WD P35670/G710V WD P35670/G711E WD P35670/G711R WD P35670/G711W WD P35670/Y713C WD P35670/S721P WD P35670/T737R WD P35670/Y741C WD P35670/S744P WD P35670/I747F WD P35670/A756G WD P35670/P760L WD P35670/D765G WD P35670/D765N WD P35670/T766M WD P35670/T766R WD P35670/P768H WD P35670/M769I WD P35670/M769R WD P35670/M769V WD P35670/L776P WD P35670/R778G WD P35670/R778L WD P35670/R778Q WD P35670/R778W WD P35670/L795F WD P35670/L795R WD P35670/P840L WD P35670/I857T WD P35670/A861T WD P35670/G869R WD P35670/G869V WD P35670/A874V WD P35670/G875V WD P35670/V890M WD P35670/G891V WD P35670/Q898R WD P35670/D918E WD P35670/D918N WD P35670/R919G WD P35670/R919W WD P35670/S921N WD P35670/T933P WD P35670/T935M WD P35670/G943C WD P35670/G943D WD P35670/G943S WD P35670/V949G WD P35670/I967F WD P35670/R969Q WD P35670/A971V WD P35670/T974M WD P35670/S975Y WD P35670/T977M WD P35670/C985Y WD P35670/G988R WD P35670/T991M WD P35670/P992H WD P35670/P992L WD P35670/M996T WD P35670/G998D WD P35670/G1000R WD P35670/A1003T WD P35670/A1003V WD P35670/Q1004P WD P35670/A1018V WD P35670/T1029I WD P35670/T1031I WD P35670/T1033A WD P35670/T1033S WD P35670/G1035V WD P35670/R1038K WD P35670/R1041P WD P35670/R1041W WD P35670/L1043P WD P35670/P1052L WD P35670/G1061E WD P35670/A1063V WD P35670/E1064A WD P35670/E1064K WD P35670/A1065P WD P35670/E1068G WD P35670/H1069Q WD P35670/L1083F WD P35670/G1089E WD P35670/G1089V WD P35670/F1094L WD P35670/Q1095P WD P35670/P1098R WD P35670/G1099S WD P35670/G1101R WD P35670/I1102T WD P35670/C1104F WD P35670/C1104Y WD P35670/V1106D WD P35670/V1106I WD P35670/G1111D WD P35670/Q1142H WD P35670/V1146M WD P35670/I1148T WD P35670/G1149A WD P35670/R1151H WD P35670/W1153C WD P35670/W1153R WD P35670/D1164N WD P35670/A1168S WD P35670/M1169T WD P35670/M1169V WD P35670/E1173G WD P35670/E1173K WD P35670/G1176E WD P35670/G1176R WD P35670/A1183G WD P35670/A1183T WD P35670/G1186C WD P35670/G1186S WD P35670/G1213V WD P35670/V1216M WD P35670/T1220M WD P35670/G1221E WD P35670/D1222N WD P35670/D1222V WD P35670/D1222Y WD P35670/R1228T WD P35670/I1230V WD P35670/T1232P WD P35670/V1239G WD P35670/K1248N WD P35670/V1252I WD P35670/L1255I WD P35670/Q1256R WD P35670/V1262F WD P35670/G1266R WD P35670/G1266V WD P35670/D1267A WD P35670/D1267V WD P35670/N1270S WD P35670/D1271N WD P35670/P1273L WD P35670/A1278V WD P35670/D1279G WD P35670/D1279Y WD P35670/G1287S WD P35670/D1296N WD P35670/L1305P WD P35670/S1310R WD P35670/R1322P WD P35670/L1327V WD P35670/A1328T WD P35670/Y1331S WD P35670/N1332D WD P35670/I1336T WD P35670/G1341D WD P35670/G1341R WD P35670/G1341S WD P35670/G1341V WD P35670/P1352S WD P35670/W1353R WD P35670/G1355C WD P35670/G1355S WD P35670/A1358S WD P35670/M1359I WD P35670/S1363F WD P35670/L1368P WD P35670/L1373P WD P35670/L1373R WD P35670/C1375S WD P35670/P1379S WD P35670/T1434M WD P03928/W55R MC5DM2 P25705/R329C MC5DN4 Q8N5M1/W94R MC5DN1 Q7Z2J1/G175E ATRX Q7Z2J1/N179S ATRX Q7Z2J1/P190A ATRX Q7Z2J1/P190L ATRX Q7Z2J1/P190S ATRX Q7Z2J1/L192F ATRX Q7Z2J1/V194I ATRX Q7Z2J1/C200S ATRX Q7Z2J1/Q219P ATRX Q7Z2J1/C220R ATRX Q7Z2J1/C220Y MRXSHF1 Q7Z2J1/W222S ATRX Q7Z2J1/C243F ATRX Q7Z2J1/R246C ATRX Q7Z2J1/R246L ATRX Q7Z2J1/G249C ATRX Q7Z2J1/G249D ATRX Q7Z2J1/L409S MRXSHF1 Q7Z2J1/V1538G ATRX Q7Z2J1/V1552F ATRX Q7Z2J1/H1609R ATRX Q7Z2J1/C1614R ATRX Q7Z2J1/T1621M ATRX Q7Z2J1/L1645S ATRX Q7Z2J1/K1650N ATRX Q7Z2J1/P1713S ATRX Q7Z2J1/R1742K ATRX Q7Z2J1/Y1847C ATRX Q7Z2J1/D2035V ATRX Q7Z2J1/I2050T MRXSHF1 Q7Z2J1/Y2084H ATRX Q7Z2J1/R2131Q MRXSHF1 Q7Z2J1/Y2163C ATRX Q7Z2J1/R2271G MRXSHF1 Q13535/Q2144R FCTCS Q9H324/A25T WMS1 Q76LX8/I79M TTP Q76LX8/V88M TTP Q76LX8/H96D TTP Q76LX8/R102C TTP Q76LX8/S119F TTP Q76LX8/I178T TTP Q76LX8/R193W TTP Q76LX8/T196I TTP Q76LX8/S203P TTP Q76LX8/L232Q TTP Q76LX8/H234Q TTP Q76LX8/D235H TTP Q76LX8/A250V TTP Q76LX8/S263C TTP Q76LX8/R268P TTP Q76LX8/Y304C TTP Q76LX8/C311Y TTP Q76LX8/C347S TTP Q76LX8/R349C TTP Q76LX8/P353L TTP Q76LX8/W390C TTP Q76LX8/R398H TTP Q76LX8/R507Q TTP Q76LX8/C508Y TTP Q76LX8/G525D TTP Q76LX8/R528G TTP Q76LX8/A596V TTP Q76LX8/A606P TTP Q76LX8/Y658C TTP Q76LX8/P671L TTP Q76LX8/I673F TTP Q76LX8/R692C TTP Q76LX8/C758R TTP Q76LX8/C908S TTP Q76LX8/C908Y TTP Q76LX8/C951G TTP Q76LX8/CAR977W TTP Q76LX8/C1024G TTP Q76LX8/R1060W TTP Q76LX8/R1123C TTP Q76LX8/C1213Y TTP Q76LX8/R1219W TTP Q76LX8/G1239V TTP Q76LX8/R1336W TTP P17735/G362V TYRO2 Q13825/A240V MGA1 Q13705/R40H HTX4 Q13705/V494I HTX4 O15169/L106R HCC O15169/P345L HCC O15169/G425S HCC O15169/G650S HCC and in hepatoblastoma P61769/A11P HYCATHYP P02730/K56E Di(a P02730/E90K SPH4 P02730/G130R SPH4 P02730/P147S SPH4 P02730/A285D SPH4 P02730/P327R SPH4 P02730/E429D NFLD+ antigen P02730/R432W ELO antigen P02730/G455E SPH4 P02730/G455R SPH4 P02730/E480K FR(a+ P02730/V488M SPH4 P02730/R490C SPH4 P02730/R490H SPH4 P02730/R518C SPH4 P02730/P548L RB(A P02730/K551N TR(A P02730/T552I WARR antigen P02730/Y555H VG(a P02730/V557M WD(a P02730/P561A NFLD+ antigen P02730/P561S BOW antigen P02730/G565A WU antigen P02730/P566A KREP antigen P02730/P566S PN(a P02730/N569K BP(a P02730/R589C AD-dRTA P02730/R589H AD-dRTA P02730/R589S AD-dRTA P02730/G609R AD-dRTA P02730/S613F AD-dRTA P02730/R646Q SW(a+ P02730/R646W SW(a+ P02730/R656C HG(a P02730/R656H MO(a P02730/E658K WR(a P02730/M663K SPH4 P02730/L687P SPH4 P02730/D705Y SPH4 P02730/L707P SPH4 P02730/G714R SPH4 P02730/S731P SPH4 P02730/H734R SPH4 P02730/R760Q SPH4 P02730/R760W SPH4 P02730/G771D SPH4 P02730/I783N SPH4 P02730/R808C SPH4 P02730/R808H SPH4 P02730/H834P SPH4 P02730/T837A SPH4 P02730/T837M SPH4 P02730/T837R SPH4 P02730/P854L Di(a P02730/A858D AD-dRTA P02730/R870W SPH4 O94766/R277Q JDSSDHD Q8NCR0/G247E MDDGA11 Q8NCR0/V252G MDDGA11 Q8NCR0/V268M MDDGA11 Q8NCR0/R292P MDDGA11 O43505/N390D MDDGA13 O43505/A406V MDDGA13 Q9UBV7/A186D EDSP1 Q9UBV7/L206P EDSP1 Q9BPU9/S101R MKS10 Q14032/M76V FHCA O75531/A12T NGPS O95817/R71W CMD1HH O95817/P209L MFM6 O95817/R218W CMD1HH O95817/E455K CMD1HH O95817/L462P CMD1HH O95817/V468M CMD1HH O95817/R477H CMD1HH P35613/E208K Ok(A- P82251/I44T CSNU P82251/P52L CSNU P82251/G63R CSNU P82251/W69L CSNU P82251/A70V CSNU P82251/G105R CSNU P82251/T123M CSNU P82251/A126T CSNU P82251/A158AA CSNU P82251/V170M CSNU P82251/A182T CSNU P82251/I187F CSNU P82251/I193II CSNU P82251/G195R CSNU P82251/A224V CSNU P82251/W230R CSNU P82251/I241T CSNU P82251/G259R CSNU P82251/P261L CSNU P82251/V330M CSNU P82251/A331V CSNU P82251/R333W CSNU P82251/A354T CSNU P82251/S379R CSNU P82251/A382T CSNU Q8TAM1/R34P BBS10 Q8TAM1/R49W BBS10 Q8TAM1/L55P BBS10 Q8TAM1/C91W BBS10 Q8TAM1/L170S BBS10 Q8TAM1/K188T BBS10 Q8TAM1/C195W BBS10 Q8TAM1/Y197C BBS10 Q8TAM1/V240G BBS10 Q8TAM1/L308F BBS10 Q8TAM1/S311A BBS10 Q8TAM1/S329L BBS10 Q8TAM1/P363L BBS10 Q8TAM1/H410Q BBS10 Q8TAM1/L414S BBS10 Q8TAM1/K579R BBS10 Q8TAM1/L600S BBS10 Q8TAM1/Y613C BBS10 Q8TAM1/Y613H BBS10 Q8TAM1/A636V BBS10 Q8TAM1/G677V BBS10 Q8TAM1/L687P BBS10 Q8TAM1/T689P BBS10 Q6ZW61/L88R BBS12 Q6ZW61/P159L BBS12 Q6ZW61/A289P BBS12 Q6ZW61/Q293E BBS12 Q6ZW61/I346T BBS12 Q6ZW61/R355Q BBS12 Q6ZW61/V400M BBS12 Q6ZW61/T501M BBS12 Q6ZW61/R525H BBS12 Q6ZW61/G539D BBS12 Q6ZW61/G540V BBS12 Q6ZW61/R674C BBS12 Q8NFJ9/H35R BBS1 Q8NFJ9/K53E BBS1 Q8NFJ9/D148N BBS1 Q8NFJ9/R160Q BBS1 Q8NFJ9/E234K BBS1 Q8NFJ9/G305S BBS1 Q8NFJ9/I330T BBS1 Q8NFJ9/M390R BBS1 Q8NFJ9/Y434S BBS1 Q8NFJ9/L503H BBS1 Q8NFJ9/L518P BBS1 Q8NFJ9/L518Q BBS1 Q9BXC9/R23P BBS2 Q9BXC9/N70S BBS2 Q9BXC9/V75G BBS2 Q9BXC9/G81C BBS2 Q9BXC9/D104A BBS2 Q9BXC9/L125R BBS2 Q9BXC9/A136P BBS2 Q9BXC9/D174E BBS2 Q9BXC9/C307W BBS2 Q9BXC9/R315Q BBS2 Q9BXC9/R315W BBS2 Q9BXC9/Y317C BBS2 Q9BXC9/L349W BBS2 Q9BXC9/T558I BBS2 Q9BXC9/R632P BBS2 Q9BXC9/R643H BBS2 Q96RK4/N165H BBS4 Q96RK4/R295P BBS4 Q96RK4/L327P BBS4 Q96RK4/L351R BBS4 Q96RK4/A364E BBS4 Q96RK4/D368G BBS4 Q96RK4/S457I BBS4 Q96RK4/M472V BBS4 Q96RK4/P503L BBS4 Q8N3I7/G72S BBS5 Q8IWZ6/G63R BBS7 Q8IWZ6/I66F BBS7 Q8IWZ6/T211I BBS7 Q8IWZ6/H323R BBS7 Q9HAY6/T170M ADHVAD O14874/R224P BCKDKD O95999/A5S MALT lymphoma and mesothelioma O95999/V16E MALT lymphoma O95999/K31E MALT lymphoma O95999/C57R MALT lymphoma O95999/R64K MALT lymphoma O95999/D101E MALT lymphoma O95999/S134P MALT lymphoma O95999/T168A MALT lymphoma O95999/L174S MALT lymphoma O95999/G213E MALT lymphoma and mesothelioma O95999/V230I MALT lymphoma Q9H232/P85L MCOPS2 Q9Y276/G35R BJS Q9Y276/R45C MC3DN1 Q9Y276/T50A MC3DN1 Q9Y276/R73C MC3DN1 Q9Y276/S78G GRACILE Q9Y276/P99L MC3DN1 Q9Y276/R114W BJS Q9Y276/R144Q GRACILE Q9Y276/R155P MC3DN1 Q9Y276/R183C MC3DN1 Q9Y276/R183H BJS Q9Y276/R184C MC3DN1 and BJS Q9Y276/S277N MC3DN1 Q9Y276/Q302E BJS Q9Y276/R306H BJS Q9Y276/V327A GRACILE Q9Y276/V353M MC3DN1 Q9Y276/F368I MC3DN1 Q9BYY7/T2I CCHS O76090/I3T VMD2 O76090/T6P VMD2 and AVMD O76090/T6R VMD2 O76090/V9A VMD2 O76090/V9M VMD2 O76090/A10T VMD2 O76090/A10V VMD2 O76090/N11I VMD2 O76090/R13H VMD2 O76090/S16F VMD2 O76090/F17C VMD2 O76090/L21V VMD2 O76090/W24C VMD2 O76090/R25Q VMD2 O76090/R25W VMD2 O76090/G26R VMD2 O76090/S27R VMD2 O76090/Y29H VMD2 O76090/K30R VMD2 O76090/L41P VMD2 and ARB O76090/R47H AVMD O76090/Q58L VMD2 O76090/I73N VMD2 O76090/F80L VMD2 O76090/L82V VMD2 O76090/Y85H VMD2 O76090/V86M ADVIRC O76090/V89A VMD2 O76090/T91I VMD2 O76090/R92C VMD2 O76090/R92H VMD2 O76090/R92S VMD2 O76090/W93C VMD2 O76090/Q96H VMD2 O76090/N99K VMD2 O76090/L100R VMD2 O76090/P101T VMD2 O76090/W102R VMD2 O76090/D104E VMD2 O76090/D104H VMD2 O76090/F113L VMD2 O76090/N133K VMD2 O76090/G135S VMD2 O76090/L140R VMD2 O76090/L140V RP50 O76090/R141H VMD2 and ARB O76090/A146K AVMD O76090/P152A ARB O76090/A195V VMD2 O76090/I201T VMD2 O76090/I205T RP50 O76090/L207I VMD2 O76090/S209N VMD2 O76090/R218C VMD2 O76090/R218H VMD2 O76090/R218Q VMD2 O76090/R218S VMD2 O76090/C221W VMD2 O76090/L224M VMD2 O76090/L224P VMD2 O76090/Y227C RP50 O76090/Y227N VMD2 O76090/D228N RP50 O76090/S231R VMD2 O76090/V235L VMD2 O76090/V235M VMD2 O76090/Y236C ADVIRC O76090/T237R VMD2 O76090/V239M ADVIRC O76090/T241N VMD2 O76090/V242M VMD2 O76090/A243T VMD2 O76090/A243V VMD2 and AVMD O76090/F276L VMD2 O76090/Q293K VMD2 O76090/L294V VMD2 O76090/I295T VMD2 O76090/N296H VMD2 O76090/N296S VMD2 O76090/P297A VMD2 O76090/P297S VMD2 O76090/F298S VMD2 O76090/G299A VMD2 O76090/G299E VMD2 O76090/E300D VMD2 O76090/E300K VMD2 O76090/D301E VMD2 O76090/D301N VMD2 O76090/D302G VMD2 O76090/D302H VMD2 O76090/D302V VMD2 O76090/D303E VMD2 O76090/F305S VMD2 O76090/E306D VMD2 O76090/E306G VMD2 O76090/T307A VMD2 O76090/T307I VMD2 O76090/N308S VMD2 O76090/I310T VMD2 O76090/V311G VMD2 O76090/D312N AVMD and ARB O76090/V317M ARB O76090/M325T ARB Q13515/R287W CTRCT12 P16278/P10L GM1G1 P16278/R49C GM1G1 P16278/R49H GM1G3 P16278/I51T GM1G3 P16278/R59C GM1G1 P16278/R59H GM1G1 P16278/R68Q GM1G2 P16278/R68W GM1G2 P16278/K73E GM1G3 P16278/T82M GM1G3 P16278/Y83C MPS4B P16278/Y83H MPS4B P16278/R121S GM1G1 P16278/G123R GM1G1 P16278/M132T GM1G1 P16278/G134V GM1G1 P16278/P136S GM1G1 P16278/R148C GM1G3 P16278/R148S GM1G1 P16278/S149F MPS4B P16278/D151V GM1G1 P16278/D151Y GM1G1 P16278/L155R GM1G2 and GM1G3 P16278/L162S GM1G1 P16278/L173P GM1G1 P16278/Q184R GM1G1 P16278/G190D GM1G1 P16278/D198Y MPS4B P16278/Y199C GM1G1 P16278/R201C GM1G1 and GM1G2 P16278/R201H GM1G2 P16278/R208C GM1G1 P16278/D214Y GM1G3 P16278/V216A GM1G1 P16278/T239M GM1G1 P16278/V240M GM1G1 P16278/Q255H GM1G1 P16278/P263S GM1G3 P16278/L264S GM1G2 P16278/N266S GM1G3 P16278/Y270D GM1G3 P16278/G272D GM1G1 P16278/W273L MPS4B P16278/H281Y GM1G1 and GM1G3 P16278/Y316C GM1G1 P16278/N318H GM1G1 P16278/T329I GM1G1 P16278/D332E GM1G1 P16278/D332N GM1G1 P16278/Y333H GM1G2 P16278/K346N GM1G1 P16278/Y347C GM1G1 P16278/P397A MPS4B P16278/Q408P MPS4B P16278/T420K GM1G3 P16278/T420P GM1G1 P16278/L422R GM1G1 P16278/S434L GM1-gangliosidosis P16278/G438E GM1G3 and MPS4B P16278/D441N GM1G1 P16278/R442Q GM1G1 P16278/Y444C MPS4B P16278/R457Q GM1G3 P16278/R482C MPS4B P16278/R482H MPS4B and GM1G1 P16278/N484K MPS4B P16278/D491N GM1G1 P16278/D491Y GM1G1 P16278/G494C GM1G1 P16278/G494S MPS4B P16278/T500A MPS4B P16278/W509C MPS4B P16278/P549L GM1G1 P16278/G554E GM1-gangliosidosis P16278/K578R GM1G1 P16278/G579D GM1G1 and GM1G2 P16278/R590C GM1G1 P16278/R590H GM1G2 P16278/Y591C GM1G1 P16278/Y591N GM1G1 P16278/P597S GM1G1 P16278/E632G GM1G2 O43219/R124C CDL1 O43219/R124H CDA O43219/R124L CDRB O43219/R124S CDGG1 O43219/P501T CDL3A O43219/V505D CDL1 O43219/L509R EBMD O43219/L518P CDL1 O43219/L518R CDL1 O43219/L527R CDL1 O43219/T538R CDL1 O43219/F540S CDL3A O43219/N544S CDL O43219/A546D CDL1 O43219/A546T CDL3A O43219/P551Q CDL1 O43219/R555Q CDTB O43219/R555W CDGG1 O43219/L569R CDL1 O43219/H572R CDL1 O43219/N622K CDL3A O43219/G623D CDL1 O43219/H626P CDL1 O43219/H626R CDL1 O43219/V631D CDL O43219/R666S EBMD P08236/P30S MPS7 P08236/C38G MPS7 P08236/S52F MPS7 P08236/G136R MPS7 P08236/P148S MPS7 P08236/E150K MPS7 P08236/D152G MPS7 P08236/L176F MPS7 P08236/R216W MPS7 P08236/L243P MPS7 P08236/Y320C MPS7 P08236/Y320S MPS7 P08236/N339S MPS7 P08236/K350N MPS7 P08236/H351Y MPS7 P08236/A354V MPS7 P08236/D362N MPS7 P08236/P364L MPS7 P08236/R374C MPS7 P08236/R382C MPS7 P08236/R382H MPS7 P08236/P408S MPS7 P08236/P415L MPS7 P08236/R435P MPS7 P08236/R477W MPS7 P08236/Y495C MPS7 P08236/Y508C MPS7 P08236/E540K MPS7 P08236/G572D MPS7 P08236/R577L MPS7 P08236/K606N MPS7 P08236/G607A MPS7 P08236/R611W MPS7 P08236/A619V MPS7 P08236/Y626H MPS7 P08236/W627C MPS7 Q9H694/E932G CYSRD Q8TD16/S107L SMALED2 Q8TD16/N188T SMALED2 Q8TD16/I189F SMALED2 Q8TD16/R501P SMALED2 Q8TD16/K508T SMALED2 Q8TD16/T703M SMALED2 Q8TD16/E774G SMALED2 Q9Y6D5/E209K PVNH2 O75514/K35N CNM2 O75514/D151N CNM2 P62952/Y2C RNA edited version P62952/Q5R RNA edited version P62952/K15R RNA edited version P54132/Q672R BLM P54132/I841T BLM P54132/T843I BLM P54132/C878R BLM P54132/G891E BLM P54132/C901Y BLM P54132/C1036F BLM P54132/C1055S BLM O95972/R61Q POF4 O95972/R61W POF4 O95972/R68W POF4 O95972/R76C POF4 O95972/R76H POF4 O95972/R138H POF4 O95972/L148P POF4 O95972/A180T POF4 O95972/N196K POF4 O95972/R206H POF4 O95972/W221R POF4 O95972/Y235C ODG2 O95972/I243V POF4 O95972/R329C POF4 Q99422/G12R OI13 Q99422/F249L OI13 P12644/S91C OFC11 P12644/E93G MCOPS6 P12644/R162Q OFC11 P12644/R287H OFC11 P12644/A346V OFC11 Q8N8U9/P370L DSD Q13873/C60Y PPH1 Q13873/Q82H PPH1 Q13873/C117Y PPH1 Q13873/C118W PPH1 Q13873/C123R PPH1 Q13873/C123S PPH1 Q13873/G182D PPH1 Q13873/C347Y PPH1 Q13873/C420R PPH1 Q13873/C483R PPH1 Q13873/D485G PPH1 Q13873/R491Q PPH1 Q13873/R491W PPH1 Q13873/K512T PPH1 Q13873/N519K PPH1 Q13873/R899P PPH1 P36894/Y62D JPS P36894/C82Y JPS P36894/C124R JPS P36894/C130R JPS P36894/A338D JPS P36894/C376Y JPS P36894/R443C JPS P36894/M470T JPS O00238/I200K BDA2 O00238/R486W BDA2 P50747/E42D HLCS deficiency and a breast cancer sample P50747/R183P HLCS deficiency P50747/L216R HLCS deficiency P50747/L237P HLCS deficiency P50747/V333E HLCS deficiency P50747/R360S HLCS deficiency P50747/V363D HLCS deficiency P50747/Y456C HLCS deficiency P50747/T462I HLCS deficiency P50747/L470S HLCS deficiency P50747/R508W HLCS deficiency P50747/N511K HLCS deficiency P50747/G518E HLCS deficiency P50747/V547G HLCS deficiency P50747/V550M HLCS deficiency P50747/D571N HLCS deficiency P50747/G581S HLCS deficiency P50747/G582R HLCS deficiency P50747/D615Y HLCS deficiency P50747/D634N HLCS deficiency P50747/D634Y HLCS deficiency P50747/D715G HLCS deficiency Q13878/T241P CFC1 and LEOPARD3 Q13878/T244P CFC1 Q13878/L245F CFC1 Q13878/A246P CFC1 Q13878/Q257R CFC1 Q13878/Q262K CFC1 Q13878/E275K CFC1 Q13878/R462I CRC Q13878/I463S CRC Q13878/G464E CRC Q13878/G466V LNCR Q13878/S467A CFC1 Q13878/F468S CFC1 Q13878/G469A NHL Q13878/G469E CFC1 and colon cancer Q13878/G469R NHL Q13878/L485F CFC1 Q13878/K499E CFC1 Q13878/K499N CFC1 Q13878/E501G CFC1 Q13878/E501K CFC1 Q13878/L525P CFC1 Q13878/W531C NS7 Q13878/N580D CFC1 Q13878/N581D CFC1 Q13878/D594G NHL Q13878/G596V CFC1 Q13878/L597R LNCR Q13878/L597V NS7 Q13878/T599R CFC1 Q13878/V600E CRC Q13878/K601E CRC Q13878/K601Q CFC1 Q13878/D638E CFC1 Q13878/Q709R CFC1 P38398/E10K BC and BROVCA1 P38398/M18T BC P38398/L22S BC P38398/E23K BC and BROVCA1 P38398/C61G BC and ovarian cancer P38398/C64G BC P38398/R71K BC P38398/V271M BC P38398/P346S BC P38398/F461L BC P38398/Y465D BC P38398/G552V BC P38398/D749Y BC P38398/T826K BC P38398/H835Y BROVCA1 P38398/R841W BROVCA1 P38398/R866Q BC P38398/H888Y BC P38398/L892S BC P38398/G960D BC P38398/T1025I BC P38398/V1047A BC P38398/S1139I BC P38398/P1150S BC P38398/S1187I BC and BROVCA1 P38398/Q1200H BC and BROVCA1 P38398/R1204I BC P38398/K1207N BC P38398/E1210G BC P38398/S1217Y BC and BROVCA1 P38398/F1226L BROVCA1 P38398/R1243G BROVCA1 P38398/S1297P BC P38398/R1495M BC P38398/T1685A BC P38398/M1689R BC P38398/G1706E BC P38398/A1708E BC P38398/S1715R BC P38398/G1738R BC P38398/L1764P BC P38398/I1766S BC P38398/M1775K BC P38398/M1775R BC P38398/L1786P BROVCA1 P38398/G1788V BC P51587/G25R BC P51587/W31C BC P51587/W31R BC P51587/F32L BC P51587/Y42C BC and ovarian cancer P51587/K53R BC P51587/N60S BC P51587/T64I BC P51587/F81L BC P51587/P201R BC P51587/V211A BC P51587/P222S BC P51587/S326R BC P51587/K327E BC P51587/G405R BC P51587/T431I BC P51587/R448H BC P51587/E462G BC P51587/I505T BC P51587/C554W BC and pancreas cancer P51587/L613R BC P51587/D728A BC P51587/I729M BC P51587/D935N BC P51587/E1036K BC P51587/S1106R BC P51587/S1172L BC P51587/S1179N BC P51587/K1445T BC P51587/F1524V BC P51587/C1580Y BC P51587/T1679I BC P51587/K1690N BC P51587/N1730Y BC P51587/G1771D BC P51587/V1804A BC P51587/T1887M BC P51587/E1901K BC P51587/I1929V BC P51587/T2031A BC P51587/S2072C BC P51587/E2089D BC P51587/Y2094C BC P51587/P2096L BC P51587/V2118L BC P51587/K2128N BC P51587/N2135H BC P51587/Y2222C BC P51587/G2274V BC P51587/E2275G BC P51587/F2293L BC P51587/R2336H FANCD1 P51587/G2353R BC P51587/H2415N BC P51587/Q2421H BC P51587/Q2456E BC P51587/R2488K BC P51587/R2502C BC P51587/L2510P FANCD1 P51587/T2515I BC P51587/W2626C FANCD1 P51587/I2627F BC P51587/L2653P BC P51587/R2659K BC P51587/T2722R BC P51587/D2723H BC P51587/V2728I BC P51587/K2729N BC P51587/G2748D BC P51587/G2793R BC P51587/K2950N BC P51587/T3013I BC P51587/D3095E BC P51587/Y3098H BC and ovarian cancer P51587/M3118T BC P51587/N3124I BC P51587/K3196E BC P51587/T3357R BC Q8N916/K1596E MRX93 Q96G97/N88S SPG17 and HMN5A Q96G97/S90L SPG17 and HMN5A Q96G97/A212P CGL2 Q8WZ55/R8L BS4A Q8WZ55/R8W BS4A Q8WZ55/G10S BS4A Q8WZ55/G47R BS4A P43251/F128V BTD deficiency P43251/A171T BTD deficiency P43251/D228Y BTD deficiency P43251/H323R BTD deficiency P43251/D444H BTD deficiency P43251/G451D BTD deficiency P43251/Q456H BTD deficiency P43251/T532M BTD deficiency P43251/R538C BTD deficiency Q06187/L11P XLA Q06187/K12R XLA Q06187/S14F XLA Q06187/K19E XLA Q06187/F25S XLA Q06187/K27R XLA Q06187/R28C XLA Q06187/R28H XLA Q06187/R28P XLA Q06187/T33P XLA Q06187/Y39S XLA Q06187/Y40C XLA Q06187/Y40N XLA Q06187/I61N XLA Q06187/V64D XLA Q06187/V64F XLA Q06187/Q103QSVFSSTR XLA Q06187/V113D XLA Q06187/S115F XLA Q06187/T117P XLA Q06187/Q127H XLA Q06187/C154S XLA Q06187/C155G XLA Q06187/C155R XLA Q06187/T184P XLA Q06187/R288Q XLA Q06187/R288W XLA Q06187/L295P XLA Q06187/G302E XLA Q06187/G302R XLA Q06187/R307G XLA Q06187/R307T XLA Q06187/D308E XLA Q06187/V319A XLA Q06187/Y334S XLA Q06187/L358F XLA Q06187/Y361C XLA Q06187/H362Q XLA Q06187/H364P XLA Q06187/N365Y XLA Q06187/S366F XLA Q06187/L369F XLA Q06187/I370M XLA Q06187/R372G XLA Q06187/L408P XLA Q06187/G414R XLA Q06187/Y418H XLA Q06187/I429N XLA Q06187/K430E XLA Q06187/K430R XLA Q06187/E445D XLA Q06187/G462D XLA Q06187/G462V XLA Q06187/Y476D XLA Q06187/M477R XLA Q06187/C502F XLA Q06187/C502W XLA Q06187/C506R XLA Q06187/C506Y XLA Q06187/A508D XLA Q06187/M509I XLA Q06187/M509V XLA Q06187/L512P XLA Q06187/L512Q XLA Q06187/L518R XLA Q06187/R520Q XLA Q06187/D521G XLA Q06187/D521H XLA Q06187/D521N XLA Q06187/A523E XLA Q06187/R525G XLA Q06187/R525P XLA Q06187/R525Q XLA Q06187/N526K XLA Q06187/V535F XLA Q06187/L542P XLA Q06187/R544G XLA Q06187/R544K XLA Q06187/F559S XLA Q06187/R562P XLA Q06187/R562W XLA Q06187/W563L XLA Q06187/E567K XLA Q06187/S578Y XLA Q06187/W581R XLA Q06187/A582V XLA Q06187/F583S XLA Q06187/M587L XLA Q06187/E589D XLA Q06187/E589G XLA Q06187/E589K XLA Q06187/S592P XLA Q06187/G594E XLA Q06187/G594R XLA Q06187/Y598C XLA Q06187/A607D XLA Q06187/G613D XLA Q06187/P619A XLA Q06187/P619S XLA Q06187/P619T XLA Q06187/A622P XLA Q06187/V626G XLA Q06187/M630K XLA Q06187/M630T XLA Q06187/C633Y XLA Q06187/R641C XLA Q06187/R641H XLA Q06187/F644L XLA Q06187/F644S XLA Q06187/L647P XLA Q06187/L652P XLA Q59HH6/R36Q PCS Q59HH6/R550Q MVA1 Q59HH6/R814H MVA1 Q59HH6/L844F MVA1 Q59HH6/I909T MVA1 Q59HH6/Q921H MVA1 Q59HH6/L1012P MVA1 Q9UBR1/A85E BUPD Q99622/L51Q TEMTYS P15538/P42S AH4 P15538/P94L AH4 P15538/N133H AH4 P15538/T318M AH4 P15538/T318R AH4 P15538/T319M AH4 P15538/R374Q AH4 P15538/G379V AH4 P15538/R448H AH4 P15538/R454C AH4 P19099/N140NRL CMO-1 deficiency P19099/R181W CMO-2 deficiency P19099/T185I CMO-2 deficiency P19099/E198D CMO-2 deficiency P19099/V386A CMO-2 deficiency P19099/L461P CMO-1 deficiency P19099/T498A CMO-2 deficiency Q96EU7/E152K TNPS Q96EU7/S193P TNPS P02746/G42D C1QD P02747/G34R C1QD Q9BXJ0/S163R LORD Q9P2K1/P721S JBTS9 Q9P2K1/Q1096H JBTS9 Q9P2K1/T1114M MKS6 and JBTS9 Q9P2K1/T1116M COACHS Q9P2K1/P1122S JBTS9 Q9P2K1/E1126K JBTS9 Q9P2K1/N1520S JBTS9 Q9P2K1/R1528C JBTS9 and COACHS Q9P2K1/L1551P JBTS9 Q9P2K1/D1556V JBTS9 Q9P2K1/Y1568H JBTS9 P33076/K120IE BLS2 P33076/L469P BLS2 P33076/F962S BLS2 P57796/R124C CSNB2B Q99792/R192Q FHM1 Q99792/R195K FHM1 Q99792/S218L FHM1 Q99792/Y248C EA2 Q99792/H253Y EA2 Q99792/C256R EA2 Q99792/C287Y EA2 Q99792/G293R EA2 and SCA6 Q99792/E388K EA2 Q99792/L389F EA2 Q99792/A405T SCA6 Q99792/T501M EA2 Q99792/R583Q FHM1 Q99792/G638D EA2 Q99792/T666M FHM1 and EA2 Q99792/V714A FHM1 Q99792/D715E FHM1 Q99792/M798T EA2 Q99792/P897R EA2 Q99792/K1335E FHM1 Q99792/R1346Q FHM1 Q99792/Y1384C FHM1 Q99792/F1403C EA2 Q99792/V1456L FHM1 Q99792/G1482R EA2 Q99792/F1490S EA2 Q99792/V1493I EA2 Q99792/R1661H EA2 Q99792/R1664Q SCA6 Q99792/R1667W FHM1 Q99792/R1679C EA2 Q99792/W1683R FHM1 Q99792/V1695I FHM1 Q99792/H1736L EA2 Q99792/E1756K EA2 Q99792/I1810L FHM1 Q99792/C1869R EA2 Q99792/R2135C EA2 Q4VMI9/A39V BRGDA3 Q4VMI9/G402S TS Q4VMI9/G406R TS Q4VMI9/G490R BRGDA3 Q01668/G403GG SANDD O60840/C74R CSNB2A O60840/G150R CSNB2A O60840/S229P CSNB2A O60840/G261R CSNB2A O60840/G369D CSNB2A O60840/R519Q CSNB2A O60840/V635I CSNB2A O60840/G674D CSNB2A O60840/F753C CSNB2A O60840/I756T CSNB2A O60840/L860P CSNB2A O60840/A928D CSNB2A O60840/G1018R CSNB2A O60840/R1060W CSNB2A O60840/L1079P CSNB2A O60840/L1375H CSNB2A O60840/C1499R CSNB2A O60840/P1500R CSNB2A O60840/L1508P CSNB2A Q9NYY5/F161L ECA6 Q9NYY5/E282K ECA6 Q9NYY5/C456S ECA6 Q9NYY5/G499S ECA6 Q9NYY5/P618L IGE6 Q9NYY5/P648L ECA6 Q9NYY5/R744Q ECA6 Q9NYY5/A748V ECA6 Q9NYY5/G755D IGE6 Q9NYY5/G773D ECA6 Q9NYY5/G784S ECA6 Q9NYY5/V831M ECA6 Q9NYY5/G848S ECA6 Q9NYY5/D1463N ECA6 Q13698/R528G HOKPP1 Q13698/R528H HOKPP1 Q13698/R900S HOKPP1 Q13698/R1086H MHS5 Q13698/R1239G HOKPP1 Q13698/R1239H HOKPP1 Q9Y341/S535L BRGDA4 O00305/C104F EA5 P55291/V8L MRD3 P55291/R60C MRD3 P55291/R92W MRD3 P55291/A122V MRD3 Q6UWW1/D124G DFNB12 Q6UWW1/P240L DFNB12 Q6UWW1/E247K USH1D Q6UWW1/R301Q DFNB12 Q6UWW1/A366T USH1D Q6UWW1/N452S DFNB12 Q6UWW1/L480Q DFNB12 Q6UWW1/A484P USH1D Q6UWW1/R582Q DFNB12 Q6UWW1/H755Y USH1D Q6UWW1/D990N DFNB12 Q6UWW1/R1060W DFNB12 Q6UWW1/V1090I USH1D Q6UWW1/N1098S USH1D Q6UWW1/G1186D DFNB12 Q6UWW1/P1206R USH1D Q6UWW1/T1209A USH1D Q6UWW1/D1341N DFNB12 Q6UWW1/Q1496H USH1D Q6UWW1/R1507Q USH1D Q6UWW1/A1586P DFNB12 Q6UWW1/E1595K DFNB12 Q6UWW1/Q1716P DFNB12 Q6UWW1/R1746Q USH1D Q6UWW1/P1788L USH1D Q6UWW1/D1846N DFNB12 Q6UWW1/F1888S DFNB12 Q6UWW1/R1912W USH1D Q6UWW1/D1930N USH1D Q6UWW1/G2017S USH1D Q6UWW1/R2029W DFNB12 Q6UWW1/D2045N DFNB12 Q6UWW1/D2148N DFNB12 Q6UWW1/D2202N DFNB12 Q6UWW1/D2376V USH1D Q6UWW1/R2465W DFNB12 Q6UWW1/S2517G USH1D Q6UWW1/T2530I USH1D Q6UWW1/R2608H DFNB12 Q6UWW1/G2744S USH1D Q6UWW1/G2771S USH1D Q6UWW1/R2833G USH1D Q6UWW1/I2950N DFNB12 Q6UWW1/R2956C DFNB12 Q6UWW1/V2968A USH1D Q6UWW1/P3059T DFNB12 Q6UWW1/R3175H USH1D Q6UWW1/R3189W USH1D and USH1DF Q6UWW1/S3245F USH1D P12830/D244G HDGC P12830/V487A HDGC P12830/V832M HDGC P22223/N322I EEM P22223/R503H HJMD Q5T440/Q314P MMDS3 O43570/E143K HCHLH P00915/G254R Guam P00918/K18E Jogjakarta P00918/Q92P OPTB3 P00918/H94Y OPTB3 P00918/H107Y OPTB3 P00918/G144R OPTB3 P00918/P236H Melbourne P22748/R14W RP17 P22748/R219S RP17 P35219/S100P CMARQ3 Q96HK3/N54I CPVT4 Q96HK3/N98S CPVT4 Q96L12/K82R CMH19 P20807/V4I LGMD2A P20807/P26L LGMD2A P20807/D77N LGMD2A P20807/S86F LGMD2A P20807/R118G LGMD2A P20807/C137R LGMD2A P20807/I162L LGMD2A P20807/L182Q LGMD2A P20807/P183L LGMD2A P20807/T184M LGMD2A P20807/L189P LGMD2A P20807/G214S LGMD2A P20807/S215P LGMD2A P20807/E217K LGMD2A P20807/G222R LGMD2A P20807/E226K LGMD2A P20807/T232I LGMD2A P20807/G234E LGMD2A P20807/P319L LGMD2A P20807/H334Q LGMD2A P20807/Y336N LGMD2A P20807/V354G LGMD2A P20807/W360C LGMD2A P20807/R437C LGMD2A P20807/R440W LGMD2A P20807/G441D LGMD2A P20807/G445R LGMD2A P20807/R448C LGMD2A P20807/R448G LGMD2A P20807/R448H LGMD2A P20807/S479G LGMD2A P20807/Q486E LGMD2A P20807/R489Q LGMD2A P20807/R489W LGMD2A P20807/R490Q LGMD2A P20807/R490W LGMD2A P20807/R493W LGMD2A P20807/G496R LGMD2A P20807/I502T LGMD2A P20807/R541Q LGMD2A P20807/G567W LGMD2A P20807/R572Q LGMD2A P20807/R572W LGMD2A P20807/S606L LGMD2A P20807/Q638P LGMD2A P20807/R698P LGMD2A P20807/A702V LGMD2A P20807/D705G LGMD2A P20807/D705H LGMD2A P20807/F731S LGMD2A P20807/S744G LGMD2A P20807/R748Q LGMD2A P20807/R769Q LGMD2A P20807/H774D LGMD2A P20807/A798E LGMD2A O15484/R243L VRNI O15484/L244P VRNI Q8WVQ1/D112E DBQD Q8WVQ1/W125C DBQD Q8WVQ1/M165T DBQD Q8WVQ1/L224P DBQD Q8WVQ1/V226M DBQD Q8WVQ1/P299L DBQD Q8WVQ1/R300C DBQD Q8WVQ1/R300H DBQD Q8WVQ1/S303R DBQD Q8WVQ1/A360D DBQD Q8WVQ1/I374N DBQD Q9BXL7/G123S PPBL Q9BXL7/E134G PPBL Q9BXL6/G117S PSORS2 Q9BXL6/E138A PSORS2 Q9BXL6/E142G PSORS2 Q9BXL6/E142K PSORS2 Q9BXL6/L156P PRP Q8NG31/M2041I MCPH4 Q96T22/R248W CASP8D Q9Y2U7/M147T GASC Q9Y2U7/L285F ALPS2A Q9Y2U7/I406L ALPS2A Q9Y2U7/A414V NHL O14958/R33Q CPVT2 O14958/L167H CPVT2 O14958/D307H CPVT2 P41180/L11S HHC1 P41180/L13P HHC1 P41180/G21R HHC1 P41180/P39A HHC1 P41180/K47N HYPOC1 P41180/R62M HHC1 and NSHPT P41180/R66C HHC1 P41180/A116T HYPOC1 P41180/N118K HYPOC1 P41180/L125P HYPOC1 P41180/E127A HYPOC1 P41180/F128L HYPOC1 P41180/C131W HYPOC1 P41180/T138M HHC1 P41180/G143E HHC1 P41180/T151M HYPOC1 P41180/S171N HHC1 P41180/L174R HHC1 P41180/F180C HHC1 P41180/R185Q HHC1 P41180/E191K HYPOC1 P41180/P221Q HHC1 P41180/K225T HHC1 P41180/R227L NSHPT P41180/R227Q HHC1 P41180/S271F HHC1 P41180/E297K HHC1 and NSHPT P41180/E354A EIG8 P41180/G397R HHC1 P41180/R465Q HHC1 P41180/G509R HHC1 P41180/G553R HHC1 P41180/I555V HHC1 P41180/G557E HHC1 P41180/C562Y HHC1 P41180/C582F HHC1 P41180/C582Y NSHPT P41180/E604K HYPOC1 P41180/F612S HYPOC1 P41180/L616V HYPOC1 P41180/G623D HHC1 P41180/G670E NSHPT P41180/G670R HHC1 P41180/Q681H HYPOC1 P41180/I686V EIG8 P41180/V697M HHC1 P41180/L727Q HYPOC1 P41180/V728F HHC1 P41180/W742R HHC1 P41180/E767K HYPOC1 P41180/L773R HYPOC1 P41180/F788C HYPOC1 P41180/F788L HYPOC1 P41180/R795W HHC1 P41180/F806S HYPOC1 P41180/S820F HYPOC1 P41180/A843E HYPOC1 P41180/R886W HHC1 P41180/R898Q EIG8 P41180/A988G EIG8 P41180/A988V EIG8 Q7Z3G7/W39S PLS Q7Z3G7/H127P PLS Q7Z3G7/V129E PLS Q7Z3G7/G139R PLS Q7Z3G7/D236Y PLS Q7Z3G7/V249F PLS Q7Z3G7/Q252L PLS Q7Z3G7/R272H PLS Q7Z3G7/R272P PLS Q7Z3G7/Q286R HMS and PLS Q7Z3G7/C291Y PLS Q7Z3G7/Y294H PLS Q7Z3G7/G300D PLS Q7Z3G7/G300S PLS Q7Z3G7/G301S PLS Q7Z3G7/G301V PLS Q7Z3G7/Y304N PLS Q7Z3G7/Q312R PLS Q7Z3G7/E319G PLS Q7Z3G7/R339C PLS Q7Z3G7/Y340C PLS Q7Z3G7/Y347C PLS and AP1 Q7Z3G7/H405N PLS Q7Z3G7/H405R PLS Q7Z3G7/Y412C AP1 Q7Z3G7/W429C PLS Q7Z3G7/E447G PLS P07339/F229I CLN10 P07339/W383C CLN10 P43235/G79E PKND P43235/G146R PKND P43235/A277V PKND P43235/L309P PKND P56539/V14L SIDS P56539/R27Q HYPCK, RMD, LGMD1C and MPDT P56539/D28E RMD and LGMD1C P56539/P29L HYPCK P56539/N33K LGMD1C and MPDT P56539/V44E LGMD1C P56539/A46T LGMD1C and RMD P56539/A46V RMD P56539/S53G RMD P56539/V57M HYPCK P56539/T64P LGMD1C P56539/T64S CMH P56539/T78M LQT9 and SIDS P56539/L79R LQT9 and SIDS P56539/A85T LQT9 P56539/L87P RMD P56539/A93T RMD P56539/F97C LQT9 P56539/P105L LGMD1C and RMD P56539/S141R LQT9 A6NGG8/I201F RP54 A6NGG8/D372N RP54 A6NGG8/L612P RP54 A6NGG8/V615D RP54 P08185/L115H CBG deficiency P08185/D389N CBG deficiency P22681/Q367P NSLL P22681/K382E NSLL P22681/D390Y NSLL P22681/R420Q NSLL Q8N4T0/G267R ETL5 Q8N4T0/A270V FEB11 P15169/G178D CPND Q92793/Y1175C RSTS1 Q92793/E1278K RSTS1 Q92793/R1378P RSTS1 Q92793/T1447I RSTS1 Q92793/Y1450H RSTS1 Q92793/H1470R RSTS1 Q92793/R1664H RSTS1 P35520/P49L CBSD P35520/R58W CBSD P35520/H65R CBSD P35520/P78R CBSD P35520/G85R CBSD P35520/P88S CBSD P35520/L101P CBSD P35520/K102N CBSD P35520/K102Q CBSD P35520/C109R CBSD P35520/A114V CBSD P35520/G116R CBSD P35520/R121C CBSD P35520/R121H CBSD P35520/R121L CBSD P35520/R125P CBSD P35520/R125Q CBSD P35520/R125W CBSD P35520/M126V CBSD P35520/E128D CBSD P35520/E131D CBSD P35520/G139R CBSD P35520/I143M CBSD P35520/E144K CBSD P35520/P145L CBSD P35520/G148R CBSD P35520/G151R CBSD P35520/I152M CBSD P35520/L154Q CBSD P35520/A155T CBSD P35520/A155V CBSD P35520/C165Y CBSD P35520/V168A CBSD P35520/V168M CBSD P35520/M173V CBSD P35520/E176K CBSD P35520/V180A CBSD P35520/T191M CBSD P35520/D198V CBSD P35520/P200L CBSD P35520/R224H CBSD P35520/A226T CBSD P35520/N228K CBSD P35520/N228S CBSD P35520/A231P CBSD P35520/D234N CBSD P35520/E239K CBSD P35520/T257M CBSD P35520/T262M CBSD P35520/T262R CBSD P35520/R266G CBSD P35520/R266K CBSD P35520/C275Y CBSD P35520/I278S CBSD P35520/I278T CBSD P35520/D281N CBSD P35520/A288P CBSD P35520/A288T CBSD P35520/P290L CBSD P35520/E302K CBSD P35520/G305R CBSD P35520/G307S CBSD P35520/V320A CBSD P35520/D321V CBSD P35520/A331E CBSD P35520/A331V CBSD P35520/R336C CBSD P35520/R336H CBSD P35520/L338P CBSD P35520/G347S CBSD P35520/S349N CBSD P35520/S352N CBSD P35520/T353M CBSD P35520/V354M CBSD P35520/A355P CBSD P35520/A361T CBSD P35520/R369C CBSD P35520/R369H CBSD P35520/C370Y CBSD P35520/V371M CBSD P35520/D376N CBSD P35520/R379Q CBSD P35520/R379W CBSD P35520/K384E CBSD P35520/K384N CBSD P35520/M391I CBSD P35520/P422L CBSD P35520/T434N CBSD P35520/I435T CBSD P35520/R439Q CBSD P35520/D444N CBSD P35520/A446S CBSD P35520/V454E CBSD P35520/L456P CBSD P35520/S466L CBSD P35520/R491C CBSD P35520/Q526K CBSD P35520/V534D CBSD P35520/L539S CBSD Q14781/P98L SRXY5 Q14781/R443P SRXY5 Q8IW40/H154P CILD17 Q96LW4/Y89D MYP22 Q6UXH8/C75S HLLS Q6UXH8/C102S HLLS Q6UXH8/R158C HLLS Q6UXH8/C174R HLLS Q6UXH8/G327R HLLS Q9Y698/V143L MRD10 P53701/R217C MCOPS7 Q8TAT4/L198R CCM2 Q8TAT4/Q215H CCM2 Q8TAT4/L229Q CCM2 O14708/Y10D INCCR5-71A O14708/R31H INCCR5-72A O14708/P34L TZCCR5-179 O14708/K62R UGCCR5-145B O14708/Y68H ZWCCR5-7 O14708/D95N MWCCR5-107 O14708/G97E INCCR5-467 O14708/L122P ZWCCR5-7 O14708/F158S UGCCR5-145A O14708/Y176C KECCR5-116 O14708/T177A INCCR5-45C O14708/S185N UGCCR5-145A O14708/M210V ZWCCR5-7 O14708/Y214C KECCR5-3B O14708/T239S INCCR5-71A O14708/L246P UGCCR5-145A O14708/T288M INCCR5-72A O14708/E302G TZCCR5-179 O14708/K303E THCCR5-5 O14708/N306S MWCCR5-1567 O14708/K322R THCCR5-5 O14708/E333G THCCR5-2 O14708/A335V MWCCR5-1567, MWCCR5-1568, ZWCCR5-14 and ZWCCR5-112 O14708/Y339F TZCCR5-181A and MWCCR5-107 O14708/E345G UGCCR5-145C P26842/C53Y LPFS2 P42771/A19ATA CMM2 P42771/R24C CMM2 P42771/R24P CMM2 P42771/L32P CMM2 P42771/G35A CMM2 P42771/G35E CMM2 P42771/G35V CMM2 P42771/P48L CMM2 and a head and neck tumor P42771/Q50R CMM2 P42771/M53I CMM2 P42771/V59G CMM2 P42771/L62P CMM2 P42771/G67R CMM2 P42771/A68L CMM2 P42771/N71K CMM2 P42771/D74Y CMM2 P42771/T77P CMM2 P42771/R80P CMM2 P42771/P81T CMM2 P42771/D84Y CMM2 P42771/R87P CMM2 P42771/R87W CMM2 P42771/G89D CMM2 P42771/G89S CMM2 P42771/L94Q CMM2 P42771/L97R CMM2 P42771/H98P CMM2 P42771/H98Q CMM2 P42771/R99P CMM2 P42771/A100L CMM2 P42771/G101W CMM2 and FAMMMPC P42771/A102E LFS P42771/R107C CMM2 P42771/R112RR CMM2 P42771/L117M CMM2 P42771/A118T CMM2 P42771/G122R CMM2 P42771/V126D CMM2 Q9BZN4/P90S PG4D Q9BZN4/F254L PG4D Q9BZN4/I413L PG4D P29965/M36R HIGM1 P29965/G38R HIGM1 P29965/G116R HIGM1 P29965/G116S HIGM1 P29965/A123E HIGM1 P29965/H125R HIGM1 P29965/V126A HIGM1 P29965/V126D HIGM1 P29965/SE128RG HIGM1 P29965/W140C HIGM1 P29965/W140G HIGM1 P29965/W140R HIGM1 P29965/K143T HIGM1 P29965/G144E HIGM1 P29965/T147N HIGM1 P29965/L155P HIGM1 P29965/Y170C HIGM1 P29965/A173D HIGM1 P29965/Q174R HIGM1 P29965/T176I HIGM1 P29965/L195P HIGM1 P29965/A208D HIGM1 P29965/T211N HIGM1 P29965/H224Y HIGM1 P29965/G226A HIGM1 P29965/G227V HIGM1 P29965/L231S HIGM1 P29965/A235P HIGM1 P29965/V237E HIGM1 P29965/T254M HIGM1 P29965/G257D HIGM1 P29965/G257S HIGM1 P29965/L258S HIGM1 Q9UCB0/R46P In(A P01730/R265W OKT4-negative populations P13987/C89Y HACD59 P40259/G137S AGM6 P01732/G111S CD8 deficiency Q8IWY9/N599S CDA1 Q8IWY9/P672L CDA1 Q8IWY9/E698K CDA1 Q8IWY9/R714W CDA1 Q8IWY9/F868I CDA1 Q8IWY9/V869M CDA1 Q8IWY9/R1042W CDA1 Q8IWY9/D1043V CDA1 Q8IWY9/P1130L CDA1 Q99741/T323R MGORS5 Q6P1J9/L64P FIHP Q6P1J9/D379N HPT-JT Q9UDR4/Q103R RNA edited version P11802/R24C CMM3 P11802/R24H CMM3 P11802/N41S CMM3 O76039/A40V EIEE2 O76039/I72N EIEE2 O76039/I72T EIEE2 O76039/H127R EIEE2 O76039/C152F EIEE2 O76039/R175S EIEE2 O76039/R178P EIEE2 O76039/P180L EIEE2 O76039/L220P EIEE2 O76039/T288I EIEE2 O76039/C291Y EIEE2 O76039/N399T EIEE2 O76039/V718M EIEE2 O76039/V793A EIEE2 Q9C046/W31R HCC Q9C046/F78L HCC Q9C046/C79Y HCC Q9C046/N91K HCC Q9C046/D94V HCC Q9C046/L95F HCC Q9C046/I108V HCC Q9C046/N187S HCC Q9C046/K195I HCC P49918/D274N IMAGE P49918/F276S IMAGE P49918/F276V IMAGE P49918/K278E IMAGE P49918/R279P IMAGE Q4KMG0/T684S HPE11 Q4KMG0/P689A HPE11 Q4KMG0/V691M HPE11 Q4KMG0/V780E HPE11 Q4KMG0/T790A HPE11 Q4KMG0/S940R HPE11 Q9H211/A66T MGORS4 Q9H211/Q117H MGORS4 Q9H211/R453W MGORS4 Q9H211/R462Q MGORS4 Q9H211/E468K MGORS4 Q9H799/R1336W JBTS17 O94986/Q265P MCPH9 O94986/K667R SCKL5 O15078/W7C JBTS5 and SLSN6 O15078/E534K JBTS5 Q2WEN9/T140P DFNA4B Q9NYQ6/A773V NTD Q9NYQ6/R2438Q NTD Q9NYQ6/S2964L NTD Q9NYQ6/P2983A NTD Q9HC77/E1235V MCPH6 Q5DVJ4/R106S RP26 P11597/L168P HALP1 P11597/R299C HALP1 P11597/D459G HALP1 Q9BX92/S166P AHUS4 Q9BX92/R203Q AHUS4 Q9BX92/I242L AHUS4 Q9BX92/F286L AHUS4 Q9BX92/K323E AHUS4 Q9BX92/K323Q AHUS4 Q9BX92/M458I AHUS4 Q9BX92/K533R AHUS4 P00746/V213G CFDD P00746/C214R CFDD Q9NU86/R78G AHUS1 Q9NU86/R127L CFHD Q9NU86/C325Y AHUS1 Q9NU86/Q400K AHUS1 Q9NU86/C431S CFHD Q9NU86/C536R CFHD Q9NU86/V609I AHUS1 Q9NU86/C630W AHUS1 Q9NU86/C673S CFHD Q9NU86/C673Y AHUS1 Q9NU86/E850K AHUS1 Q9NU86/H893R AHUS1 Q9NU86/C915S AHUS1 Q9NU86/Q950H AHUS1 Q9NU86/Y951H AHUS1 Q9NU86/T956M AHUS1 Q9NU86/C959Y CFHD Q9NU86/W978C AHUS1 Q9NU86/Y1021F AHUS1 Q9NU86/C1043R AHUS1 Q9NU86/Q1076E CFHD Q9NU86/D1119G CFHD Q9NU86/V1134G AHUS1 Q9NU86/Y1142D AHUS1 Q9NU86/W1157R AHUS1 Q9NU86/C1163W AHUS1 Q9NU86/I1169L AHUS1 Q9NU86/W1183C AHUS1 Q9NU86/W1183L AHUS1 Q9NU86/W1183R AHUS1 Q9NU86/T1184R CFHD Q9NU86/L1189R AHUS1 Q9NU86/S1191L AHUS1 Q9NU86/G1194D AHUS1 Q9NU86/V1197A AHUS1 Q9NU86/E1198A AHUS1 Q9NU86/F1199S AHUS1 Q9NU86/R1210C CFHD and ARMD4 Q9NU86/R1215G AHUS1 Q9NU86/R1215Q CFHD Q9NU86/YPTCAKR1225FQS AHUS1 Q9NU86/P1226S AHUS1 P05156/P64L AHUS3 P05156/G119R AHUS3 P05156/H183R AHUS3 P05156/G243D CFI deficiency P05156/G287R AHUS3 P05156/R317W AHUS3 P05156/I340T AHUS3 P05156/I416L AHUS3 P05156/H418L CFI deficiency P05156/D519N AHUS3 P05156/K522T AHUS3 P05156/D524V AHUS3 P0CG37/R112C HTX2 P13569/S13F CF P13569/R31L CF P13569/S42F CF P13569/D44G CF P13569/S50Y CBAVD P13569/W57G CF P13569/P67L CF P13569/R74W CF P13569/G85E CF P13569/F87L CF P13569/G91R CF P13569/E92K CF P13569/Q98R CF P13569/I105S CF P13569/Y109C CF P13569/D110H CF P13569/P111L CBAVD P13569/R117C CF P13569/R117H CF and CBAVD P13569/R117L CF P13569/R117P CF P13569/A120T CF P13569/H139R CF P13569/A141D CF P13569/I148T CF P13569/G149R CBAVD P13569/G178R CF P13569/E193K CBAVD and CF P13569/H199Q CF P13569/H199Y CF P13569/P205S CF P13569/L206W CF P13569/C225R CF P13569/M244K CBAVD P13569/R258G CBAVD P13569/N287Y CF P13569/R297Q CF P13569/Y301C CF P13569/S307N CF P13569/F311L CF P13569/G314E CF P13569/G314R CF P13569/R334W CF P13569/I336K CF P13569/T338I CF P13569/L346P CF P13569/R347H CF P13569/R347L CF P13569/R347P CF P13569/R352Q CF P13569/QT359KK CF P13569/Q359K CF P13569/K370KNK CF P13569/A455E CF P13569/V456F CF P13569/G458V CF P13569/G480C CF P13569/S492F CF P13569/E504Q CF P13569/D513G CBAVD P13569/V520F CF P13569/G544V CBAVD P13569/S549I CF P13569/S549N CF P13569/S549R CF P13569/G551D CF P13569/G551S CF P13569/R553Q CF P13569/L558S CF P13569/A559T CF P13569/R560K CF P13569/R560S CF P13569/R560T CF P13569/V562L CF P13569/Y563N CF P13569/Y569C CF P13569/Y569D CF P13569/Y569H CF P13569/L571S CF P13569/D572N CF P13569/P574H CF P13569/D579G CF P13569/I601F CF P13569/L610S CF P13569/A613T CF P13569/D614G CF P13569/I618T CF P13569/L619S CF P13569/H620P CF P13569/H620Q CF P13569/G628R CF P13569/L633P CF P13569/D648V CF P13569/D651N CF P13569/T665S CF P13569/V754M CF P13569/R766M CBAVD P13569/R792G CBAVD P13569/A800G CBAVD P13569/I807M CBAVD P13569/E822K CF P13569/C866Y CF P13569/Y913C CF P13569/Y917C CF P13569/H949Y CF P13569/M952I CF P13569/L997F CF P13569/I1005R CF P13569/A1006E CF P13569/P1013L CF P13569/M1028I CF P13569/F1052V CF P13569/G1061R CF P13569/L1065P CF P13569/L1065R CF P13569/R1066C CF P13569/R1066H CF P13569/R1066L CF P13569/A1067T CF P13569/R1070P CF P13569/R1070Q CF P13569/R1070W CBAVD P13569/Q1071P CF P13569/P1072L CF P13569/L1077P CF P13569/H1085R CF P13569/W1098R CF P13569/M1101K CF P13569/M1101R CF P13569/M1137V CF P13569/D1152H CF P13569/I1234V CF P13569/S1235R CF P13569/G1244E CF P13569/G1249E CF P13569/S1251N CF P13569/S1255P CF P13569/D1270N CF P13569/W1282R CF P13569/R1283M CF P13569/F1286S CF P13569/Q1291H CF P13569/Q1291R CF P13569/N1303H CF P13569/N1303K CF P13569/G1349D CF P13569/A1364V CBAVD P13569/V1397E CF P32929/T67I CSTNU P32929/Q240E CSTNU Q96NL8/R177W CORD16 Q96NL8/Q182R RP64 P10809/D29G HLD4 P10809/V98I SPG13 Q9NXA0/H55R HH5 Q9NXA0/S834F HH5 Q9NXA0/W840C CHARGES Q9NXA0/E871D CHARGES Q9NXA0/L1020S CHARGES Q9NXA0/I1028V CHARGES Q9NXA0/W1031G CHARGES Q9NXA0/W1031R CHARGES Q9NXA0/T1082N CHARGES Q9NXA0/C1101R CHARGES Q9NXA0/Q1214R CHARGES Q9NXA0/L1257R CHARGES Q9NXA0/L1292P CHARGES Q9NXA0/L1294P CHARGES Q9NXA0/C1318R CHARGES Q9NXA0/R1345H CHARGES Q9NXA0/Q1395H CHARGES Q9NXA0/G1684S CHARGES Q9NXA0/L1739R CHARGES Q9NXA0/G1797V CHARGES Q9NXA0/G1802D CHARGES Q9NXA0/D1812G CHARGES Q9NXA0/D1812H CHARGES Q9NXA0/L1815P CHARGES Q9NXA0/R2065S CHARGES Q9NXA0/W2091R CHARGES Q9NXA0/H2096R CHARGES Q9NXA0/G2108R CHARGES Q9NXA0/I2116N CHARGES Q9NXA0/G2286A CHARGES Q9NXA0/R2319S CHARGES Q9NXA0/R2418G CHARGES Q9NXA0/P2880L HH5 Q9NXA0/K2948E HH5 P15882/L20F DURS2 P15882/I126M DURS2 P15882/Y143H DURS2 P15882/A223V DURS2 P15882/G228S DURS2 P15882/P252Q DURS2 P15882/E313K DURS2 P06276/T52M BChE deficiency P06276/F56I BChE deficiency P06276/Y61C BChE deficiency P06276/P65S BChE deficiency P06276/D98G BChE deficiency P06276/D98H BChE deficiency P06276/N124Y BChE deficiency P06276/P128S BChE deficiency P06276/G143D BChE deficiency P06276/L153F BChE deficiency P06276/Y156C BChE deficiency P06276/V170M BChE deficiency P06276/D198E BChE deficiency P06276/S226G BChE deficiency P06276/A227V BChE deficiency P06276/A229T BChE deficiency P06276/T271M BChE deficiency P06276/T278P BChE deficiency P06276/K295R BChE deficiency P06276/L335P BChE deficiency P06276/A356D BChE deficiency P06276/L358I BChE deficiency P06276/G393R BChE deficiency P06276/R414C BChE deficiency P06276/G418V BChE deficiency P06276/F446S BChE deficiency P06276/E488K BChE deficiency P06276/W499R BChE deficiency P06276/F502L BChE deficiency P06276/E525V BChE deficiency P06276/R543C BChE deficiency P06276/Q546L BChE deficiency P06276/A567T BChE deficiency Q9UQN3/I29V ALS17 Q9UQN3/T104N ALS17 Q9UQN3/D148Y D3 Q9UQN3/Q206H ALS17 Q9H444/D129V CTRCT31 Q9H444/E161K CTRCT31 Q9NRQ6/Y323S MCF-12A cell line Q86X52/P539R TPBS Q7LGC8/R222W SEDC-JD Q7LGC8/L259P SEDC-JD Q7LGC8/R304Q SEDC-JD Q7LGC8/L307P SEDC-JD Q7LGC8/E372K SEDC-JD Q9GZX3/L15P MCDC1 Q9GZX3/L22R MCDC1 Q9GZX3/P31S MCDC1 Q9GZX3/H42Y MCDC1 Q9GZX3/R50C MCDC1 Q9GZX3/S51L MCDC1 Q9GZX3/G52D MCDC1 Q9GZX3/S53L MCDC1 Q9GZX3/L59P MCDC1 Q9GZX3/N61T MCDC1 Q9GZX3/V66L MCDC1 Q9GZX3/Y68H MCDC1 Q9GZX3/M70L MCDC1 Q9GZX3/P72S MCDC1 Q9GZX3/V76M MCDC1 Q9GZX3/R93H MCDC1 Q9GZX3/R97P MCDC1 Q9GZX3/S98W MCDC1 Q9GZX3/C102G MCDC1 Q9GZX3/C102Y MCDC1 Q9GZX3/M104V MCDC1 Q9GZX3/F107S MCDC1 Q9GZX3/Y110C MCDC1 Q9GZX3/F121L MCDC1 Q9GZX3/Q122P MCDC1 Q9GZX3/R127C MCDC1 Q9GZX3/A128V MCDC1 Q9GZX3/S131P MCDC1 Q9GZX3/L152P MCDC1 Q9GZX3/R162G MCDC1 Q9GZX3/R166P MCDC1 Q9GZX3/K174R MCDC1 Q9GZX3/R177H MCDC1 Q9GZX3/V198E MCDC1 Q9GZX3/L200R MCDC1 Q9GZX3/R202S MCDC1 Q9GZX3/D203E MCDC1 Q9GZX3/P204Q MCDC1 Q9GZX3/R205L MCDC1 Q9GZX3/R205Q MCDC1 Q9GZX3/A206T MCDC1 Q9GZX3/A206V MCDC1 Q9GZX3/S210F MCDC1 Q9GZX3/R211Q MCDC1 Q9GZX3/R211W MCDC1 Q9GZX3/A217T MCDC1 Q9GZX3/D221E MCDC1 Q9GZX3/D221Y MCDC1 Q9GZX3/H249P MCDC1 Q9GZX3/Y268C MCDC1 Q9GZX3/E274K MCDC1 Q9GZX3/L276P MCDC1 Q9GZX3/Y358D MCDC1 Q8NCH0/R135G EDSMC Q8NCH0/L137Q EDSMC Q8NCH0/R213P EDSMC Q8NCH0/P281L EDSMC Q8NCH0/C289S EDSMC Q8NCH0/Y293C EDSMC O75838/E64D USH1J O75838/F91S DFNB48 O75838/C99W DFNB48 O75838/I123T DFNB48 Q9H6Y3/D19N PSORS13 Q969X6/R565W NAIC Q99967/S179GGSSTPGGS ASD8 P28329/L210P CMSEA P28329/P211A CMSEA P28329/I305T CMSEA P28329/I336T CMSEA P28329/R420C CMSEA P28329/E441K CMSEA P28329/R482G CMSEA P28329/S498L CMSEA P28329/V506L CMSEA P28329/R560H CMSEA Q9UJ71/W264R BIRGD Q9UBD9/R197L CISS2 P51800/W80C BS4B P51801/P124L BS3 P51801/A204T BS3 P51801/A349D BS3 P51801/Y432H BS3 P51801/R438C BS3 P35523/R105C MCR P35523/D136G MCR P35523/Y150C MCR P35523/F161V MCD and MCR P35523/V165G MCR P35523/F167L MCR P35523/G200R MCD and MCR P35523/G230E MCD and MCR P35523/V236L MCR P35523/Y261C MCR P35523/G285E MCR P35523/V286A MCD P35523/I290M MCD P35523/E291K MCR P35523/F307S MCD P35523/A313T MCD and MCR P35523/R317Q MCD P35523/V327I MCR P35523/I329T MCR P35523/R338Q MCD and MCR P35523/F413C MCR P35523/A415V MCR P35523/P480L MCD P35523/G482R MCR P35523/M485V MCR P35523/R496S MCR P35523/Q552R MCD, MCR and in myotonia levior P35523/I556N MCD and MCR P35523/V563I MCR P35523/F708L MCR P51795/R30RH NPHL2 P51795/G57V NPHL2 P51795/G179D NPHL2 P51795/L200R NPHL2 P51795/S203L NPHL2 P51795/G212A NPHL2 P51795/C219R NPHL2 P51795/C221R NPHL2 P51795/L225P NPHL2 P51795/S244L XLRHR P51795/G260V NPHL2 P51795/E267A NPHL2 P51795/S270G NPHL2 P51795/S270R NPHL2 P51795/Y272C NPHL2 P51795/F273L NPHL2 P51795/L278F NPHL2 P51795/R280P LMWPHN P51795/N340K NPHL2 P51795/G462D NPHL2 P51795/L469P NPHL2 P51795/G506E NPHL1 P51795/G512R NPHL2 P51795/G513E NPHL2 P51795/G513R NPHL2 P51795/R516W NPHL2 P51795/S520P NPHL2 P51795/I524K LMWPHN P51795/E527D NPHL2 P51795/S545N NPHL2 P51795/K546E NPHL2 P51795/W547G NPHL2 P51795/T657S NPHL2 P51798/L132P OPTB4 P51798/N214S OPTB4 P51798/G215R OPTA2 P51798/G240R OPTB4 P51798/P249R OPTB4 P51798/I261F OPTB4 P51798/R286Q OPTA2 P51798/F318L OPTA2 P51798/M332V OPTB4 P51798/R403Q OPTB4 P51798/L490F OPTA2 P51798/G521R OPTB4 P51798/R526Q OPTB4 P51798/R526W OPTB4 P51798/L549P OPTB4 P51798/L614P OPTB4 P51798/L651P OPTB4 P51798/G677V OPTA2 P51798/S744F OPTB4 P51798/F758L OPTA2 P51798/R762Q OPTA2 and OPTB4 P51798/R762W OPTB4 P51798/L766P OPTB4 P51798/R767P OPTB4 P51798/R767Q OPTB4 P51798/R767W OPTA2 and OPTB4 O95500/R81H DFNB29 O95500/V85D DFNB29 O95500/S87I DFNB29 O95500/A94V DFNB29 O95500/G232R DFNB29 Q9Y5I7/M71R HOMG3 Q9Y5I7/H141D HOMG3 Q9Y5I7/L145P HOMG3 Q9Y5I7/R149L HOMG3 Q9Y5I7/L151F HOMG3 Q9Y5I7/L151P HOMG3 Q9Y5I7/L151W HOMG3 Q9Y5I7/L167P HOMG3 Q9Y5I7/G191R HOMG3 Q9Y5I7/G198A HOMG3 Q9Y5I7/G198D HOMG3 Q9Y5I7/A209T HOMG3 Q9Y5I7/R216T HOMG3 Q9Y5I7/F232C HOMG3 Q9Y5I7/G233D HOMG3 Q9Y5I7/S235F HOMG3 Q9Y5I7/S235P HOMG3 Q9Y5I7/G239R HOMG3 Q8N6F1/G20D HOMG5 Q8N6F1/Q57E HOMG5 Q8N6F1/L90P HOMG5 O15247/H101Q MRXS32 Q9H6B4/V124D CSBS Q9UP13/L101P CLN3 Q9UP13/C134R CLN3 Q9UP13/L170P CLN3 Q9UP13/G187A CLN3 Q9UP13/G189R CLN3 Q9UP13/E295K CLN3 Q9UP13/V330F CLN3 Q9UP13/R334C CLN3 Q9UP13/R334H CLN3 O75503/W26R CLN5 O75503/R63H CLN5 O75503/R63P CLN5 O75503/C77Y CLN5 O75503/N143S CLN5 O75503/L149P CLN5 O75503/P156S CLN5 O75503/W158R CLN5 O75503/W158S CLN5 O75503/N193K CLN5 O75503/Y209D CLN5 O75503/D230N CLN5 O75503/Y325C CLN5 O75503/W330C CLN5 Q9NWW5/R6T CLN4A Q9NWW5/A12T CLN6 Q9NWW5/G17S CLN6 Q9NWW5/L47F CLN4A Q9NWW5/R62H CLN6 Q9NWW5/L67P CLN4A Q9NWW5/E72Q CLN6 Q9NWW5/N77K CLN4A Q9NWW5/N90K CLN6 Q9NWW5/R103Q CLN4A Q9NWW5/S104F CLN6 Q9NWW5/G123D CLN6 Q9NWW5/R149C CLN6 Q9NWW5/R149H CLN4A Q9NWW5/P159L CLN6 Q9NWW5/L169P CLN6 Q9NWW5/F186S CLN6 Q9NWW5/Y221C CLN6 Q9NWW5/Y221S CLN6 Q9NWW5/F234L CLN6 Q9NWW5/F238T CLN4A Q9NWW5/M241T CLN6 Q9NWW5/R252H CLN6 Q9NWW5/G259S CLN6 Q9NWW5/P297T CLN6 Q9NWW5/P299L CLN6 Q9NWW5/W300R CLN6 Q9UBY8/L16M CLN8 Q9UBY8/R24G CLN8NE Q9UBY8/A30P CLN8 Q9UBY8/R70H CLN8 Q9UBY8/Q76R CLN8 Q9UBY8/I107S CLN8 Q9UBY8/N125S CLN8 Q9UBY8/H139Y CLN8 Q9UBY8/Y158C CLN8 Q9UBY8/T170M CLN8 Q9UBY8/Q194R CLN8 Q9UBY8/R204C CLN8 Q9UBY8/G221S CLN8 Q9UBY8/P229A CLN8 Q9UBY8/G237R CLN8 Q9UBY8/W263C CLN8 Q9UBY8/E269V CLN8 Q16740/T145P PRLTS3 Q16740/C147S PRLTS3 P58418/P31L RP61 P58418/C40G USH3A P58418/N48K USH3A P58418/S105P USH3A P58418/M120K USH3A P58418/L150P USH3A P58418/IL153M USH3A P58418/L154W RP61 O75746/Q590R GCHM Q9UJS0/E601K NICCD P29973/S320F RP49 Q16281/D162V ACHM2 Q16281/P163L ACHM2 Q16281/Y181C ACHM2 Q16281/N182Y ACHM2 Q16281/L186F ACHM2 Q16281/C191Y ACHM2 Q16281/E194K ACHM2 Q16281/R223W ACHM2 Q16281/T224R ACHM2 Q16281/E228K ACHM2 Q16281/F249S ACHM2 Q16281/D260N ACHM2 Q16281/Y263D ACHM2 Q16281/G267D ACHM2 Q16281/R277C ACHM2 Q16281/R277H ACHM2 Q16281/R283Q ACHM2 Q16281/R283W ACHM2 Q16281/T291R ACHM2 Q16281/S341P ACHM2 Q16281/T369S ACHM2 Q16281/P372S ACHM2 Q16281/F380S ACHM2 Q16281/S401P ACHM2 Q16281/M406T ACHM2 Q16281/R410W ACHM2 Q16281/R427C ACHM2 Q16281/R436W ACHM2 Q16281/R439W ACHM2 Q16281/A469T ACHM2 Q16281/N471S ACHM2 Q16281/D485V ACHM2 Q16281/C510S ACHM2 Q16281/G513E ACHM2 Q16281/G516E ACHM2 Q16281/I522T ACHM2 Q16281/G525D ACHM2 Q16281/L527M LCA Q16281/V529M ACHM2 Q16281/F547L ACHM2 Q16281/G548R ACHM2 Q16281/G557R ACHM2 Q16281/R563H ACHM2 Q16281/T565M ACHM2 Q16281/R569H ACHM2 Q16281/Y573C ACHM2 Q16281/E590K ACHM2 Q16281/E593K ACHM2 Q14028/G993V RP45 Q9NQW8/G107R ACHM3 Q9NQW8/K148E ACHM3 Q9NQW8/S156F ACHM3 Q9NQW8/E199K ACHM3 Q9NQW8/R203Q ACHM3 Q9NQW8/P309L ACHM3 Q9NQW8/S435F ACHM3 Q9NQW8/M466T ACHM3 Q9NQW8/Y469D STGD1 Q9NQW8/D494N ACHM3 Q9NQW8/D513Y ACHM3 Q9NQW8/F525N ACHM3 Q9NQW8/G558C ACHM3 Q9NQW8/L595F ACHM3 Q9NQW8/T672P ACHM3 Q9H8M5/T568I HOMG6 Q6P4Q7/S196P JALIS Q6P4Q7/S200Y JALIS Q6P4Q7/R236Q JALIS Q6P4Q7/L324P JALIS Q9UML6/G22R OI2 Q9UML6/G194R OI1 Q9UML6/G197R OI4 Q9UML6/G200V OI1 Q9UML6/G203V OI3 Q9UML6/G221C OI1 Q9UML6/G224C OI1 Q9UML6/G242D OI Q9UML6/G257R OI4 Q9UML6/G263R OI1 Q9UML6/G263V OI1 Q9UML6/G266E OI1 Q9UML6/G272C OI1 Q9UML6/G275D OI2 Q9UML6/G287S OI1 Q9UML6/R312C EDS1 Q9UML6/G320V OI1 Q9UML6/G332R OI3 Q9UML6/G338C OI4 Q9UML6/V349F OI1 Q9UML6/G350R OI3 Q9UML6/G353C OI4 Q9UML6/G353D OI2 Q9UML6/G353S OI4 Q9UML6/G356C OI4 Q9UML6/G368V OI2 Q9UML6/G383C OI4 Q9UML6/G389C OI Q9UML6/G389R OI2 Q9UML6/G398A OI4 Q9UML6/G398D OI2 Q9UML6/G401C OI4 Q9UML6/G404C OI Q9UML6/G422C OI2 Q9UML6/G425S OI2 Q9UML6/G434V OI2 Q9UML6/G455D OI2 Q9UML6/G470V OI2 Q9UML6/G476R OI2 Q9UML6/G509V OI2 Q9UML6/G527C OI4 Q9UML6/G530S OI2, OI3 and OI4 Q9UML6/G533D OI2 Q9UML6/G548A OI2 Q9UML6/P555R OI1 Q9UML6/G560C OI4 Q9UML6/G560R OI2 Q9UML6/G560S OI4 Q9UML6/G569R OI2 Q9UML6/G581R OI2 Q9UML6/G593C OI3 and OI4 Q9UML6/G593S OI2 and OI3 Q9UML6/G602R OI2 Q9UML6/G605D OI2 Q9UML6/G614R OI2 Q9UML6/G647S OI1 Q9UML6/G656S OI2 Q9UML6/G683S OI4 Q9UML6/G701C OI4 Q9UML6/G704C OI3 Q9UML6/G719D OI2 Q9UML6/G719S OI3 Q9UML6/G722S OI1 Q9UML6/G728R OI2 Q9UML6/G734V OI2 Q9UML6/G737D OI2 Q9UML6/G740R OI2 Q9UML6/G743S OI2 Q9UML6/G743V OI2 Q9UML6/G764V OI2 Q9UML6/G767S OI3 Q9UML6/G776S OI2 Q9UML6/G809S OI2 Q9UML6/G815V OI2 Q9UML6/G821S OI3 Q9UML6/G824R OI2 Q9UML6/G833D OI2 Q9UML6/G839S OI2 Q9UML6/G842R OI2 Q9UML6/G845R OI2 Q9UML6/G848R OI2 Q9UML6/G851D OI2 Q9UML6/G866S OI3 and OI2 Q9UML6/G869C OI2 Q9UML6/G875S OI2 Q9UML6/G884S OI2 and OI3 Q9UML6/G896C OI2 Q9UML6/G896D OI2 Q9UML6/G926C OI2 Q9UML6/G947C OI2 Q9UML6/G977D OI2 Q9UML6/G980V OI2 Q9UML6/G1001C OI2 Q9UML6/G1010S OI4 Q9UML6/R1014C CAFFD Q9UML6/G1022S OI3 Q9UML6/G1022V OI2 Q9UML6/G1025R OI2 Q9UML6/G1040S OI2 and OI3 Q9UML6/G1043S OI2 Q9UML6/G1049S OI3 Q9UML6/G1052GAPG OI2 Q9UML6/G1055D OI2 Q9UML6/G1058S OI3 and OI4 Q9UML6/G1061D OI2 Q9UML6/G1061S OI4 Q9UML6/G1076S OI3 Q9UML6/G1079S OI1 and OI2 Q9UML6/G1082C OI2 Q9UML6/G1088A OI2 Q9UML6/G1091S OI2 Q9UML6/G1094S OI2 Q9UML6/G1100D OI2 Q9UML6/G1106A OI2 Q9UML6/G1124C OI2 Q9UML6/G1142S OI2 Q9UML6/G1151S OI3 Q9UML6/G1151V OI2 Q9UML6/G1154R OI2 Q9UML6/G1157D OI1 Q9UML6/G1166C OI2 Q9UML6/G1172D OI2 Q9UML6/G1181S OI2 Q9UML6/G1184V OI2 Q9UML6/G1187S OI2 and OI3 Q9UML6/G1187V OI2 Q9UML6/G1195C OI1 Q9UML6/D1219E OI1 Q9UML6/D1277H OI2 Q9UML6/W1312C OI2 Q9UML6/L1388R OI2 Q9UML6/D1413N OI2 Q9UML6/L1464P OI3 Q9UML5/G193S OI4 Q9UML5/G202R OI4 Q9UML5/G211D OI1 Q9UML5/R234C OI2 Q9UML5/G247R OI1 Q9UML5/G253D OI2 Q9UML5/G256V OI4 Q9UML5/G283R OI2 Q9UML5/G319R OI1 Q9UML5/G325E OI4 Q9UML5/G328S OI1, OI3 AND OI4 Q9UML5/G331D OI3 Q9UML5/G334C OI2 Q9UML5/G337C OI3 Q9UML5/G337S OI3 Q9UML5/G349C OI3 Q9UML5/G358S OI3 Q9UML5/G397E OI2 Q9UML5/G409V OI2 Q9UML5/G433E OI2 Q9UML5/G454C OI2 Q9UML5/G457L OI2 Q9UML5/G460S OI3 Q9UML5/G511D OI2 Q9UML5/G517R OI3 Q9UML5/G526E OI2 Q9UML5/G547R OI2 Q9UML5/G562C OI2 Q9UML5/G562V OI2 Q9UML5/G586R OI2 Q9UML5/G592S OI2 Q9UML5/G601S OI Q9UML5/G625D OI2 Q9UML5/G634V OI4 Q9UML5/G637D OI2 Q9UML5/G640S OI2 Q9UML5/G670D OI2 Q9UML5/G676D OI3 Q9UML5/G676V OI3 and OI4 Q9UML5/R708Q Marfan syndrome Q9UML5/G715D OI2 Q9UML5/G730C OI2 Q9UML5/G733C OI1 Q9UML5/G736C OI1 Q9UML5/G739R OI2 Q9UML5/G748V OI2 Q9UML5/G751S OI4 Q9UML5/G754C OI4 Q9UML5/G754R OI2 Q9UML5/G766V OI4 Q9UML5/G778S OI3 Q9UML5/G784R OI2 Q9UML5/G787C OI2 Q9UML5/G790D OI2 Q9UML5/G796S OI2 Q9UML5/P798PP OI2 Q9UML5/G811GPPG OI4 Q9UML5/G820S OI3 Q9UML5/G835C OI3 Q9UML5/G835S OI1 Q9UML5/G856R OI3 Q9UML5/G856V OI2 Q9UML5/G877C OI2 Q9UML5/G892D OI3 and OI4 Q9UML5/G895D OI2 Q9UML5/G949S OI3 Q9UML5/G955D OI2 Q9UML5/G955S OI2 Q9UML5/G973V OI3 Q9UML5/G982D OI2 Q9UML5/P989PVGP OI4 Q9UML5/G991V OI3 Q9UML5/G997D OI2 Q9UML5/G1003D OI2 Q9UML5/G1012S OI3 and OI4 Q9UML5/G1027E OI2 Q9UML5/G1066D OI2 Q9UML5/G1078C OI2 Q9UML5/G1087D OI3 Q9UML5/G1096A OI3 Q9UML5/G1102R OI4 Q9UML5/T1148P OI3 Q9UML5/C1195Y OI1 Q96IT5/C57Y STL1O Q96IT5/G240D STL1 Q96IT5/G267D STL1O Q96IT5/G270R STL1 Q96IT5/R275C CZECHD Q96IT5/G282D STL1 Q96IT5/G303D KD Q96IT5/G318R DRRD Q96IT5/G375R SEDC Q96IT5/G447S SEDC Q96IT5/G453A STL1 Q96IT5/G453D ACG2 Q96IT5/G453V ACG2 Q96IT5/G492V SEMDSTWK Q96IT5/G501R STL1 Q96IT5/G504C SEMDSTWK Q96IT5/G510D ACG2 Q96IT5/G513S ACG2 Q96IT5/G516D ACGA2 Q96IT5/D547V ACG2 Q96IT5/R565C STL1 Q96IT5/L667F DRRD Q96IT5/G717S ANFH Q96IT5/G717V ACG2 Q96IT5/R719C OACD Q96IT5/G771A ACG2 Q96IT5/G771D ACG2 Q96IT5/G774S SEDC and hypochondrogenesis Q96IT5/G780R ACG2 Q96IT5/G795R ACG2 Q96IT5/G855S SEDC Q96IT5/G891R ACG2 and SEDC Q96IT5/G894E ACG2 Q96IT5/G897V SEMDSTWK Q96IT5/R904C EDMMD and STL1 Q96IT5/G909C SEMDSTWK Q96IT5/G948D ACG2 Q96IT5/G969S ACG2 Q96IT5/G981S ACG2 Q96IT5/R989C SEDC Q96IT5/R992G SEMDSTWK Q96IT5/G1017V ACG2 Q96IT5/G1065V ACG2 Q96IT5/G1110C ACG2 Q96IT5/G1119R ACG2 Q96IT5/G1143S ACG2 Q96IT5/G1158A STL1 Q96IT5/G1170S ANFH and in LCPD Q96IT5/G1173R SEDC Q96IT5/G1176S SEDC Q96IT5/I1184IGPSGKDGANGIPGPI SEDC Q96IT5/G1188R ACG2 Q96IT5/G1197S SEDC Q96IT5/T1390N PLSD-T Q96IT5/Y1391C PLSD-T Q96IT5/T1439M SEDC Q96IT5/T1448P PLSD-T Q96IT5/D1469H PLSD-T Q96IT5/C1485G PLSD-T P06681/C131Y C2D P06681/S209F C2D P06681/G464R C2D Q6LDJ2/L169F AAA Q6LDJ2/G183C EDS4 Q6LDJ2/G183D EDS4 Q6LDJ2/G183S EDS4 Q6LDJ2/G192V EDS4 Q6LDJ2/G201R EDS4 Q6LDJ2/G204D EDS4 Q6LDJ2/G204S EDS4 Q6LDJ2/G210D EDS4 Q6LDJ2/G219C EDS4 Q6LDJ2/G225V EDS4 Q6LDJ2/G228E EDS4 Q6LDJ2/G240R EDS4 Q6LDJ2/G243V EDS4 Q6LDJ2/G249D EDS4 Q6LDJ2/G249V EDS4 Q6LDJ2/G252D EDS4 Q6LDJ2/G252R EDS4 Q6LDJ2/G252V EDS4 Q6LDJ2/G255V EDS4 Q6LDJ2/G264R EDS4 Q6LDJ2/G267V EDS4 Q6LDJ2/G297R EDS4 Q6LDJ2/G321V EDS4 Q6LDJ2/G327D EDS4 Q6LDJ2/G345R EDS4 Q6LDJ2/G417R EDS4 Q6LDJ2/G444R EDS4 Q6LDJ2/G489E EDS4 Q6LDJ2/G501R EDS4 Q6LDJ2/G519V EDS4 Q6LDJ2/G540R EDS4 Q6LDJ2/G549E EDS4 Q6LDJ2/G552E EDS4 Q6LDJ2/G567E EDS4 Q6LDJ2/G582S EDS4 Q6LDJ2/G588D EDS4 Q6LDJ2/G636R EDS4 Q6LDJ2/G657E EDS4 Q6LDJ2/G660D EDS4 Q6LDJ2/G666D EDS4 Q6LDJ2/G699R EDS4 Q6LDJ2/G726R EDS4 Q6LDJ2/G738S EDS4 Q6LDJ2/G738V EDS4 Q6LDJ2/G744V EDS4 Q6LDJ2/G756E EDS4 Q6LDJ2/G762C EDS4 Q6LDJ2/G786R AAA Q6LDJ2/G804S EDS3 Q6LDJ2/G828R EDS4 Q6LDJ2/G828W EDS4 Q6LDJ2/G852C EDS4 Q6LDJ2/G879V EDS4 Q6LDJ2/G882D EDS4 Q6LDJ2/G900D EDS4 Q6LDJ2/G903E EDS4 Q6LDJ2/G909D EDS4 Q6LDJ2/G909V EDS4 Q6LDJ2/G918E EDS4 Q6LDJ2/G924C EDS4 Q6LDJ2/G936R EDS4 Q6LDJ2/G936S EDS4 Q6LDJ2/G939D EDS4 Q6LDJ2/G942E EDS4 Q6LDJ2/G957S EDS4 Q6LDJ2/G960V EDS4 Q6LDJ2/G966V EDS4 Q6LDJ2/G972A EDS4 Q6LDJ2/G984T EDS4 Q6LDJ2/G996E EDS4 Q6LDJ2/G999R EDS4 Q6LDJ2/G1011E EDS4 Q6LDJ2/G1014E EDS4 Q6LDJ2/G1032V EDS4 Q6LDJ2/G1035C EDS4 Q6LDJ2/G1044D EDS4 Q6LDJ2/G1050D EDS4 Q6LDJ2/G1050V EDS4 Q6LDJ2/G1071V EDS4 Q6LDJ2/G1077V EDS4 Q6LDJ2/G1089D EDS4 Q6LDJ2/G1098D EDS4 Q6LDJ2/G1098V EDS4 Q6LDJ2/G1101E EDS4 Q6LDJ2/G1104A EDS4 Q6LDJ2/G1161V EDS4 Q6LDJ2/G1164E EDS4 Q6LDJ2/G1164R EDS4 Q6LDJ2/G1167V EDS4 Q6LDJ2/G1170D EDS4 Q6LDJ2/G1170V EDS4 Q6LDJ2/G1173E EDS4 Q6LDJ2/G1173R EDS4 Q6LDJ2/G1176V EDS4 Q6LDJ2/G1179R EDS4 Q6LDJ2/G1182E EDS4 Q6LDJ2/G1185D EDS4 Q6LDJ2/G1185V EDS4 Q6LDJ2/G1188E EDS4 Q6LDJ2/G1188R EDS4 P01024/D549N C3D P01024/R592Q AHUS5 P01024/R592W AHUS5 P01024/F603V AHUS5 P01024/R735W AHUS5 P01024/R1042L AHUS5 P01024/A1094V AHUS5 P01024/D1115N AHUS5 P01024/C1158W AHUS5 P01024/Q1161K AHUS5 P01024/D1216N C3S P01024/R1320Q C3D P01024/H1464D AHUS5 P02462/G498R HANAC P02462/G498V HANAC P02462/G510R HANAC P02462/G519R HANAC P02462/G525L HANAC P02462/G528E HANAC P02462/G562E BSVDH P02462/G720D BSVDH P02462/G749S POREN1 P02462/G755R BSVDH P02462/G805R BSVDH P02462/G1130D POREN1 P02462/G1236R POREN1 P02462/G1423R POREN1 P02462/G1580R POREN1 P08572/G1037E POREN2 P08572/G1152D POREN2 Q9UDL0/G297E APSAR Q9UDL0/G407R APSAR Q9UDL0/G532D APSAR Q9UDL0/G640R APSAR Q9UDL0/G739R APSAR Q9UDL0/G853R APSAR Q9UDL0/G985V BFH Q9UDL0/G1015E BFH Q9UDL0/G1167R APSAD Q9UDL0/G1207E APSAR Q9UDL0/R1215Q APSAR Q9UDL0/G1216R APSAR Q9UDL0/G1277S APSAR Q9UDL0/I1330T APSAR Q9UDL0/G1334E APSAR Q9UDL0/D1347E APSAR Q9UDL0/R1661C APSAR P53420/G116E BFH P53420/G897E BFH P53420/G960R BFH P53420/G999E BFH P53420/G1030V APSAR P53420/P1132L BFH P53420/G1201S APSAR P53420/P1572L APSAR P29400/G54D APSX P29400/G114S APSX P29400/G129E APSX P29400/G129V APSX P29400/G174R APSX P29400/G177C APSX P29400/G177R APSX P29400/G192R APSX P29400/G204V APSX P29400/G216R APSX P29400/G219S APSX P29400/G230R APSX P29400/G239E APSX P29400/G264R APSX P29400/G289V APSX P29400/G292R APSX P29400/G292V APSX P29400/G295D APSX P29400/G298S APSX P29400/G319R APSX P29400/G325E APSX P29400/G325R APSX P29400/G331V APSX P29400/G365E APSX P29400/G371E APSX P29400/G374A APSX P29400/G383D APSX P29400/G400E APSX P29400/G406V APSX P29400/G409D APSX P29400/G412V APSX P29400/G415R APSX P29400/G420E APSX P29400/G420V APSX P29400/G423E APSX P29400/G466E APSX P29400/G472R APSX P29400/G491E APSX P29400/G494D APSX P29400/G497C APSX P29400/G521C APSX P29400/G521S APSX P29400/G524D APSX P29400/G545R APSX P29400/G545V APSX P29400/G558R APSX P29400/G561R APSX P29400/G567A APSX P29400/G573D APSX P29400/G579E APSX P29400/G579R APSX P29400/G603V APSX P29400/G609R APSX P29400/G609V APSX P29400/G621C APSX P29400/G624D APSX P29400/G629D APSX P29400/G632D APSX P29400/E633K APSX P29400/G635D APSX P29400/G638A APSX P29400/G638S APSX P29400/G638V APSX P29400/G653R APSX P29400/G669A APSX P29400/G681D APSX P29400/G684V APSX P29400/G687E APSX P29400/G722E APSX P29400/P739S APSX P29400/G740E APSX P29400/G743D APSX P29400/G772D APSX P29400/G796R APSX P29400/G802R APSX P29400/G808E APSX P29400/G811V APSX P29400/G822R APSX P29400/G852E APSX P29400/G852R APSX P29400/G866E APSX P29400/G869R APSX P29400/G872R APSX P29400/G878R APSX P29400/M898V APSX P29400/G902V APSX P29400/G911E APSX P29400/G941C APSX P29400/G947D APSX P29400/G953V APSX P29400/G1006A APSX P29400/G1006V APSX P29400/G1015E APSX P29400/G1015V APSX P29400/G1030S APSX P29400/G1036V APSX P29400/G1039S APSX P29400/G1045E APSX P29400/G1066R APSX P29400/G1066S APSX P29400/G1086D APSX P29400/G1104V APSX P29400/G1107R APSX P29400/G1143D APSX P29400/G1143S APSX P29400/G1158R APSX P29400/G1161R APSX P29400/G1167S APSX P29400/G1170S APSX P29400/G1182R APSX P29400/G1196R APSX P29400/G1205C APSX P29400/G1211E APSX P29400/G1211R APSX P29400/G1220D APSX P29400/G1229D APSX P29400/G1241C APSX P29400/G1244D APSX P29400/G1252S APSX P29400/G1261E APSX P29400/G1270S APSX P29400/G1333S APSX P29400/G1357S APSX P29400/G1379V APSX P29400/R1410C APSX P29400/G1421W APSX P29400/R1422C APSX P29400/G1427V APSX P29400/G1442D APSX P29400/G1451S APSX P29400/G1486A APSX P29400/S1488F APSX P29400/A1498D APSX P29400/R1511H APSX P29400/P1517T APSX P29400/W1538S APSX P29400/R1563Q APSX P29400/C1564S APSX P29400/C1567R APSX P29400/G1596D APSX P29400/L1649R APSX P29400/R1677P APSX P29400/R1677Q APSX P29400/C1678W APSX P20908/L25P EDS1 and EDS2 P20908/L25R EDS1 and EDS2 P20908/G530S EDS1 and EDS2 P20908/G1486C EDS1 and EDS2 P20908/G1489D EDS1 P20908/C1639S EDS1 Q96QB0/G963R EDS2 P12109/S116N BM P12109/K121R BM P12109/G272D BM P12109/P274L BM P12109/G275R BM P12109/G281R UCMD P12109/G284R UCMD P12109/G290R BM and UCMD P12109/G305V BM P12109/G341D BM P12109/G341V BM P12109/K571T BM Q6P0Q1/E106K BM Q6P0Q1/G271S BM Q6P0Q1/G283R UCMD Q6P0Q1/R498H UCMD Q6P0Q1/G531R UCMD Q6P0Q1/D621N BM Q6P0Q1/G700S BM Q6P0Q1/C777R BM Q6P0Q1/R784H UCMD Q6P0Q1/L837P UCMD Q6P0Q1/R853Q BM Q6P0Q1/R876S UCMD Q6P0Q1/P932L BM Q53QF6/R677H BM Q53QF6/K1014E BM Q53QF6/R1064Q UCMD Q53QF6/E1386K BM Q53QF6/R1395Q UCMD Q53QF6/N1467D BM Q53QF6/D1674N UCMD Q53QF6/G1679E BM Q53QF6/L1726R BM Q53QF6/V1985M BM Q53QF6/G2047D BM Q53QF6/G2056R BM Q53QF6/G2080D BM Q53QF6/A2941V BM Q02388/K142R RDEB Q02388/P595L RDEB Q02388/P1277L RDEB Q02388/G1347R RDEB Q02388/G1519D TBDN Q02388/G1522E DDEB Q02388/G1557R DDEB Q02388/G1595R NDNC8 Q02388/G1604R RDEB Q02388/G1652R RDEB Q02388/G1703E RDEB Q02388/R1772W RDEB Q02388/G1776R DDEB Q02388/G1782R RDEB Q02388/G1791E EBP Q02388/G1812R RDEB Q02388/G1815R NDNC8 Q02388/G1845R RDEB Q02388/K1981R RDEB Q02388/G1982W HS-DEB Q02388/G2003R DDEB Q02388/G2006A DDEB Q02388/G2006D DDEB Q02388/R2008C HS-DEB Q02388/R2008G HS-DEB Q02388/G2009R RDEB Q02388/G2015E DDEB Q02388/G2025A RDEB Q02388/G2028A DDEB Q02388/G2028R DDEB and EBP Q02388/G2031S RDEB Q02388/G2034R DDEB and EBDSC Q02388/G2034W DDEB Q02388/G2037E P-DEB Q02388/G2040D DDEB Q02388/G2040S P-DEB Q02388/G2040V DDEB Q02388/G2043R DDEB Q02388/G2043W DDEB Q02388/G2046V DDEB Q02388/G2049E HS-DEB Q02388/G2055E DDEB Q02388/R2063W HS-DEB Q02388/G2064R DDEB Q02388/R2069C RDEB Q02388/G2070R DDEB Q02388/G2073D RDEB Q02388/G2076D DDEB Q02388/G2079E DDEB Q02388/G2079R DDEB Q02388/G2132D RDEB Q02388/G2192S RDEB Q02388/G2207R DDEB Q02388/G2242R EBP Q02388/G2251E TBDN Q02388/G2263V RDEB Q02388/G2296E RDEB Q02388/G2348R DDEB/RDEB Q02388/G2366S RDEB Q02388/G2369S EBP Q02388/G2557R RDEB Q02388/G2569R RDEB Q02388/G2575R HS-DEB Q02388/R2622W RDEB Q02388/G2623C PR-DEB Q02388/G2653R RDEB Q02388/G2671V RDEB Q02388/G2674D RDEB Q02388/G2674R RDEB Q02388/G2713D DDEB Q02388/G2713R EBP Q02388/G2740A RDEB Q02388/G2749R HS-DEB Q02388/G2775S RDEB Q02388/R2791W DDEB Q02388/M2798K HS-DEB P10643/R220Q C7D P10643/G379R C7D P10643/R521S C7D P10643/E682Q C7D P10643/R687H C7D P25067/R155Q FECD1 P25067/R304Q FECD1 P25067/G357R FECD1 P25067/R434H FECD1 P25067/Q455K FECD1 and PPCD2 P25067/P575L FECD1 Q14055/Q326W IDD P02748/C119G C9D Q86WW8/A53P MT-C4D Q03692/G18E SMCD Q03692/G18R SMCD Q03692/Y582D SMCD Q03692/C591R SMCD Q03692/G595E SMCD and spondylometaphyseal dysplasia Japanese type Q03692/G595R SMCD Q03692/Y597C SMCD Q03692/Y597H SMCD Q03692/Y598D SMCD Q03692/S600P SMCD Q03692/L614P SMCD Q03692/N617K SMCD Q03692/G618V SMCD Q03692/L644R SMCD Q03692/D648G SMCD Q03692/W651R SMCD Q03692/Q653P SMCD Q03692/S671P SMCD Q9UIT6/G565V STL2 Q9UIT6/G625V STL2 Q9UIT6/G676R STL2 Q9UIT6/G796R FBCG1 Q9UIT6/G1027R STL2 Q9UIT6/G1042R FBCG1 Q9UIT6/G1513D STL2 Q9UIT6/G1516V STL2 Q5SUI8/P621T DFNB53 Q5SUI8/G661R OSMED Q5SUI8/G808E DFNA13 Q5SUI8/R1034C DFNA13 Q5SUI8/G1441E WZS O43405/P51S DFNA9 O43405/V66G DFNA9 O43405/G88E DFNA9 O43405/I109N DFNA9 O43405/W117R DFNA9 O43405/A119T DFNA9 O43405/C162Y DFNA9 Q9Y281/A35T NEM7 Q9H9E3/R729W CDG2J Q9Y2V7/G549V CDG2L Q9UMD9/S265C GABEB Q9UMD9/G627V GABEB Q9UMD9/G633D GABEB Q9UMD9/R1303Q GABEB B2R9M5/S169P 3MC2 B2R9M5/G204S 3MC2 Q9NP19/P59Q CMSE Q9NP19/D342E CMSE Q9NP19/R410Q CMSE Q9NP19/Y430S CMSE Q9NP19/C444Y CMSE P49747/G167E EDM1 P49747/P234S PSACH P49747/P276R EDM1 P49747/D290G PSACH P49747/D290N PSACH P49747/S298L EDM1 P49747/G299R PSACH P49747/A311D EDM1 P49747/D317G EDM1 P49747/D326G EDM1 P49747/D326Y PSACH P49747/C328R PSACH P49747/D342Y EDM1 P49747/C348F EDM1 P49747/C348R PSACH P49747/D349V PSACH P49747/D361V EDM1 P49747/D361Y EDM1 P49747/C371S EDM1 P49747/C371Y EDM1 P49747/D374N EDM1 P49747/D376N EDM1 P49747/D378V PSACH P49747/D385N EDM1 P49747/D385Y EDM1 P49747/C387G PSACH P49747/C387R PSACH P49747/PNSD391V PSACH P49747/D397H EDM1 P49747/GIG402VC PSACH P49747/G404R EDM1 P49747/D408Y EDM1 P49747/C410Y EDM1 P49747/N415K EDM1 P49747/D420A EDM1 P49747/G427E EDM1 P49747/CDS430LWC EDM1 P49747/G440E PSACH P49747/G440R PSACH P49747/D446N PSACH P49747/C448S PSACH P49747/N453S EDM1 P49747/C468Y PSACH P49747/D472Y PSACH P49747/D473DD EDM1 P49747/D473G PSACH P49747/D473H PSACH P49747/D475N PSACH P49747/D482G PSACH P49747/G501D EDM1 P49747/D507G PSACH P49747/D511G PSACH P49747/D515G PSACH P49747/D518N PSACH P49747/N523K EDM1 P49747/T529I PSACH P49747/T585M PSACH P49747/T585R EDM1 and PSACH P49747/R718P EDM1 P49747/R718W EDM1 P49747/G719D PSACH P49747/G719S PSACH P53621/I164V RNA edited version Q96H96/S96N COQ10D1 Q96H96/R147H COQ10D1 Q96H96/N178S COQ10D1 Q96H96/Y247C COQ10D1 Q9Y2Z9/G255R COQ10D6 Q9Y2Z9/A353D COQ10D6 Q9Y5Q5/K317E PEE5 Q9Y5Q5/S472G PEE5 Q12887/T196K MT-C4D Q12887/N204K MT-C4D Q12887/P225L MT-C4D Q12887/D336G MT-C4D Q12887/D336V MT-C4D Q7KZN9/R217W CEMCOX2 and LS Q7KZN9/S344P LS P00395/G125D CRC P00395/S142F MT-C4D P00395/L196I MT-C4D P00395/S458P CRC P00395/S513SKQK LHON P00403/M29K MT-C4D P00414/G78S LHON P00414/A200T LHON Q96KJ9/E138K EPIDACH P05108/L141W AICSR P05108/A189V AICSR P05108/L222P AICSR P05108/D271DGD AICSR P05108/R353W AICSR P05108/A359V AICSR P05108/V415E AICSR P05093/P35L AH5 P05093/Y64S AH5 P05093/F93C AH5 P05093/R96W AH5 P05093/S106P AH5 P05093/I112II AH5 P05093/F114V AH5 P05093/D116V AH5 P05093/N177D AH5 P05093/Y329D AH5 P05093/P342T AH5 P05093/R347C AH5 P05093/R347H AH5 P05093/R358Q AH5 P05093/R362C AH5 P05093/H373L AH5 P05093/W406R AH5 P05093/F417C AH5 P05093/P428L AH5 P05093/R440H AH5 P05093/R496C AH5 P05093/R496H AH5 P11511/R365Q AROD P11511/R375C AROD P11511/R435C AROD P11511/C437Y AROD Q16678/S28W POAG Q16678/W57C POAG Q16678/G61E GLC3A and POAG Q16678/L77P GLC3A Q16678/Y81N POAG Q16678/A115P GLC3A Q16678/M132R GLC3A Q16678/Q144P GLC3A Q16678/Q144R GLC3A Q16678/R145W POAG Q16678/D192V GLC3A Q16678/P193L GLC3A Q16678/V198I GLC3A Q16678/N203S GLC3A Q16678/S215I GLC3A Q16678/E229K GLC3A and POAG Q16678/G232R GLC3A and POAG Q16678/S239R GLC3A Q16678/V320L GLC3A Q16678/A330F GLC3A Q16678/L345F POAG Q16678/V364M GLC3A Q16678/G365W GLC3A Q16678/R368H GLC3A and GLC1A Q16678/D374N GLC3A Q16678/E387K GLC3A and POAG Q16678/A388T GLC3A Q16678/R390C GLC3A Q16678/R390H GLC3A Q16678/R390S GLC3A Q16678/I399S GLC3A Q16678/V409F POAG Q16678/N423Y GLC3A and POAG Q16678/P437L GLC3A Q16678/A443G GLC3A and POAG Q16678/R444Q GLC3A Q16678/F445C GLC3A Q16678/G466D GLC3A Q16678/R469W GLC3A Q16678/E499G GLC3A Q16678/S515L POAG Q16678/R523T POAG Q16678/D530G POAG Q96NU8/A15T AH3 Q96NU8/P30L AH3 Q96NU8/P30Q AH3 Q96NU8/G56R AH3 Q96NU8/H62L AH3 Q96NU8/G64E AH3 Q96NU8/I77T AH3 Q96NU8/G90V AH3 Q96NU8/P105L AH3 Q96NU8/L107R AH3 Q96NU8/K121Q AH3 Q96NU8/R124H AH3 Q96NU8/L142P AH3 Q96NU8/L167P AH3 Q96NU8/C169Y AH3 Q96NU8/I172N AH3 Q96NU8/G178A AH3 Q96NU8/V211L AH3 Q96NU8/I230T AH3 Q96NU8/R233K AH3 Q96NU8/I236N AH3 Q96NU8/V237E AH3 Q96NU8/M239K AH3 Q96NU8/L261P AH3 Q96NU8/V281G AH3 Q96NU8/V281L AH3 Q96NU8/M283L AH3 Q96NU8/G291C AH3 Q96NU8/G291R AH3 Q96NU8/G291S AH3 Q96NU8/G292D AH3 Q96NU8/L300F AH3 Q96NU8/S301Y AH3 Q96NU8/L317M AH3 Q96NU8/E320K AH3 Q96NU8/R339H AH3 Q96NU8/R341P AH3 Q96NU8/R341W AH3 Q96NU8/R354C AH3 Q96NU8/R354H AH3 Q96NU8/R356P AH3 Q96NU8/R356Q AH3 Q96NU8/R356W AH3 Q96NU8/A362V AH3 Q96NU8/L363W AH3 Q96NU8/H365Y AH3 Q96NU8/R369W AH3 Q96NU8/E380D AH3 Q96NU8/R408C AH3 Q96NU8/G424S AH3 Q96NU8/R426H AH3 Q96NU8/R435C AH3 Q96NU8/P453S AH3 Q96NU8/R479L AH3 Q96NU8/P482S AH3 Q96NU8/R483P AH3 Q96NU8/R483Q AH3 Q96NU8/R483W AH3 Q07973/R159Q HCAI Q07973/E322K HCAI Q07973/R396W HCAI Q07973/L409S HCAI Q9NP41/S146P RHFCA Q9NP41/R363L RHFCA Q02318/G145E CTX Q02318/R395C CTX Q02318/R395S CTX Q02318/R405Q CTX Q02318/R474Q CTX Q02318/R474W CTX Q02318/R479C CTX O15528/Q65H VDDR1A O15528/R107H VDDR1A O15528/G125E VDDR1A O15528/E189G VDDR1A O15528/E189K VDDR1A O15528/T321R VDDR1A O15528/S323Y VDDR1A O15528/R335P VDDR1A O15528/L343F VDDR1A O15528/P382S VDDR1A O15528/R389C VDDR1A O15528/R389G VDDR1A O15528/R389H VDDR1A O15528/T409I VDDR1A O15528/R429P VDDR1A O15528/R453C VDDR1A O15528/V478G VDDR1A O15528/P497R VDDR1A P10632/N193K MP-20 Q6VVX0/L99P VDDR1B Q7Z449/C262R SPG56 Q7Z449/D316V SPG56 Q7Z449/E380G SPG56 Q7Z449/R488W SPG56 Q02928/NGIHLRLRRLPNPCEDKDQL500MESTCVSGGSLTLVKTR CYP4A11V Q6NT55/F59L ARCI5 Q6NT55/R243H ARCI5 Q6NT55/R372W ARCI5 Q6NT55/H435Y ARCI5 Q6NT55/H436D ARCI5 Q6ZWL3/W44R BCD Q6ZWL3/G61S BCD Q6ZWL3/E79D BCD Q6ZWL3/I111T BCD Q6ZWL3/M123V BCD Q6ZWL3/H331P BCD Q6ZWL3/S341P BCD Q6ZWL3/R508H BCD O75881/G57R SPG5A O75881/F216S SPG5A O75881/S363F SPG5A O75881/R417H SPG5A P31327/A43V CPS1D P31327/G58D CPS1D P31327/S65F CPS1D P31327/V71G CPS1D P31327/G79E CPS1D P31327/P87S CPS1D P31327/Y89D CPS1D P31327/S123F CPS1D P31327/D165G CPS1D P31327/Y212N CPS1D P31327/D224V CPS1D P31327/R233C CPS1D P31327/H243P CPS1D P31327/G258E CPS1D P31327/G263E CPS1D P31327/K280N CPS1D P31327/G301E CPS1D P31327/A304V CPS1D P31327/G317E CPS1D P31327/H337R CPS1D P31327/D358H CPS1D P31327/P382L CPS1D P31327/Y389C CPS1D P31327/L390R CPS1D P31327/G401R CPS1D P31327/G431R CPS1D P31327/G432V CPS1D P31327/A438P CPS1D P31327/A438T CPS1D P31327/K450E CPS1D P31327/V457G CPS1D P31327/T471N CPS1D P31327/A498P CPS1D P31327/V531E CPS1D P31327/V531G CPS1D P31327/T544M CPS1D P31327/R587C CPS1D P31327/R587H CPS1D P31327/R587L CPS1D P31327/A589T CPS1D P31327/G593R CPS1D P31327/S597L CPS1D P31327/V622M CPS1D P31327/G628D CPS1D P31327/I632R CPS1D P31327/R638P CPS1D P31327/A640S CPS1D P31327/C648Y CPS1D P31327/E651K CPS1D P31327/D654V CPS1D P31327/N674I CPS1D P31327/N674K CPS1D P31327/Q678P CPS1D P31327/N698S CPS1D P31327/N716K CPS1D P31327/R718K CPS1D P31327/R721Q CPS1D P31327/A724P CPS1D P31327/A726T CPS1D P31327/D767V CPS1D P31327/P774L CPS1D P31327/R780H CPS1D P31327/M792I CPS1D P31327/R803C CPS1D P31327/R803G CPS1D P31327/R803S CPS1D P31327/F805L CPS1D P31327/F805S CPS1D P31327/Q810R CPS1D P31327/R814W CPS1D P31327/C816R CPS1D P31327/L843S CPS1D P31327/R850C CPS1D P31327/R850H CPS1D P31327/K875E CPS1D P31327/G911E CPS1D P31327/G911V CPS1D P31327/S913L CPS1D P31327/D914G CPS1D P31327/D914H CPS1D P31327/S918P CPS1D P31327/R932T CPS1D P31327/A949T CPS1D P31327/L958P CPS1D P31327/Y959C CPS1D P31327/Y962C CPS1D P31327/V978E CPS1D P31327/G982D CPS1D P31327/G982S CPS1D P31327/G982V CPS1D P31327/Y984H CPS1D P31327/I986T CPS1D P31327/G987C CPS1D P31327/F992S CPS1D P31327/S998F CPS1D P31327/N1016S CPS1D P31327/P1017L CPS1D P31327/T1022I CPS1D P31327/E1034G CPS1D P31327/H1045R CPS1D P31327/I1054R CPS1D P31327/Q1059R CPS1D P31327/A1065E CPS1D P31327/R1089C CPS1D P31327/R1089L CPS1D P31327/Q1103R CPS1D P31327/V1141G CPS1D P31327/A1155E CPS1D P31327/A1155V CPS1D P31327/H1195P CPS1D P31327/S1203L CPS1D P31327/S1203P CPS1D P31327/D1205N CPS1D P31327/I1215V CPS1D P31327/R1228Q CPS1D P31327/N1241K CPS1D P31327/E1255D CPS1D P31327/R1262P CPS1D P31327/R1262Q CPS1D P31327/D1274H CPS1D P31327/C1327R CPS1D P31327/S1331P CPS1D P31327/G1333E CPS1D P31327/R1371L CPS1D P31327/A1378T CPS1D P31327/T1391M CPS1D P31327/L1398V CPS1D P31327/P1411L CPS1D P31327/P1439L CPS1D P31327/T1443A CPS1D P31327/R1453Q CPS1D P31327/R1453W CPS1D P31327/P1462R CPS1D P31327/Y1491H CPS1D P50416/R123C CPT1AD P50416/C304W CPT1AD P50416/T314I CPT1AD P50416/R316G CPT1AD P50416/F343V CPT1AD P50416/R357W CPT1AD P50416/E360G CPT1AD P50416/A414V CPT1AD P50416/D454G CPT1AD P50416/G465W CPT1AD P50416/P479L CPT1AD P50416/L484P CPT1AD P50416/Y498C CPT1AD P50416/G709E CPT1AD P50416/G710E CPT1AD P23786/P50H CPT2D P23786/S113L CPT2D P23786/R151Q CPT2D P23786/E174K CPT2D P23786/Y210D CPT2D P23786/D213G CPT2D P23786/M214T CPT2D P23786/P227L CPT2D P23786/R296Q CPT2D P23786/F383Y CPT2D P23786/F448L CPT2D P23786/Y479F CPT2D P23786/R503C CPT2D P23786/G549D CPT2D P23786/Q550R CPT2D P23786/D553N CPT2D P23786/G600R CPT2D P23786/P604S CPT2D P23786/Y628S CPT2D P23786/R631C CPT2D P17927/K1590E MCC(b P17927/R1601G Sl(2 P17927/S1610T Sl(3 P78560/G128R MRT34 P53673/L69P CTRCT23 P53673/F94S CTRCT23 P53674/V96F CTRCT17 P53674/S129R CCMC P26998/G165R CTRCT22 P26998/V194E CTRCT22 P22914/G18V CTRCT20 Q96D31/R91W IDTICED1 Q9BU40/C254F MGC1 Q96HD1/R107H AVSD2 susceptibility Q96HD1/P162A AVSD2 susceptibility Q96HD1/T311I AVSD2 susceptibility Q96HD1/R329C AVSD2 susceptibility P07315/T5P CTRCT2 P07315/G129C CTRCT2 P07315/R169W CTRCT2 P07320/R15C CTRCT4 P07320/P24S CTRCT4 P07320/P24T CTRCT4 P07320/R37S CTRCT4 P07320/W43R CTRCT4 P07320/R59H CTRCT4 P07320/E107A CTRCT4 O75462/W76G CISS1 O75462/R81H CISS1 O75462/L374R CISS1 O75718/A13E OI7 O75718/L67P OI7 O75718/K157E OI7 Q8WWY0/C27F RP12 Q8WWY0/C45W RP12 Q8WWY0/F144V LCA8 Q8WWY0/C157S RP12 Q8WWY0/A161V RP12 Q8WWY0/V162M PPCRA Q8WWY0/C195F RP12 Q8WWY0/C250W RP12 Q8WWY0/N312K RP12 Q8WWY0/G333D LCA8 Q8WWY0/C383Y LCA8 Q8WWY0/Y433C RP12 Q8WWY0/C438Y LCA8 Q8WWY0/G454R LCA8 Q8WWY0/C480G LCA8 Q8WWY0/C480R LCA8 Q8WWY0/K534N RP12 Q8WWY0/L535P LCA8 Q8WWY0/D564Y LCA8 Q8WWY0/V578E RP12 Q8WWY0/D584Y LCA8 Q8WWY0/C587Y RP12 Q8WWY0/W675C RP12 Q8WWY0/C681Y LCA8 Q8WWY0/E710Q LCA8 Q8WWY0/E710V RP12 Q8WWY0/S740F RP12 Q8WWY0/M741T LCA8 and early-onset retinal dystrophy Q8WWY0/T745M RP12 and LCA8 Q8WWY0/L753P LCA8 Q8WWY0/R764C RP12 and LCA8 Q8WWY0/P836T RP12 Q8WWY0/D837H RP12 Q8WWY0/G846R RP12 Q8WWY0/G850S RP12 and LCA8 Q8WWY0/I852T LCA8 Q8WWY0/C891G RP12 Q8WWY0/N894S RP12 Q8WWY0/C939Y LCA8 Q8WWY0/C948Y RP12 and LCA8 Q8WWY0/N986I RP12 Q8WWY0/I989T LCA8 Q8WWY0/I1003T LCA8 Q8WWY0/L1012S RP12 Q8WWY0/S1025I LCA8 Q8WWY0/S1025N RP12 Q8WWY0/M1041T RP12 Q8WWY0/L1071P RP12 Q8WWY0/T1099K RP12 Q8WWY0/I1100R LCA8 Q8WWY0/I1100T RP12 Q8WWY0/G1103R LCA8 and RP12 Q8WWY0/L1107P LCA8 Q8WWY0/L1107R LCA8 Q8WWY0/Y1161C LCA8 Q8WWY0/C1165W RP12 Q8WWY0/C1174G LCA8 and RP12 Q8WWY0/C1181R RP12 Q8WWY0/G1205R LCA8 Q8WWY0/C1218F LCA8 Q8WWY0/P1305L RP12 Q8WWY0/N1317H LCA8 Q8WWY0/C1321S LCA8 Q8WWY0/C1332F LCA8 Q8WWY0/P1381L LCA8 Q8WWY0/R1383H RP12 O43186/R41Q RP O43186/R41W CORD2 O43186/E80A CORD2 O43186/K88N LCA7 O43186/R90W LCA7 O43186/G122D RP O43186/V242M CORD2 P02489/R12C CTRCT9 P02489/R21L CTRCT9 P02489/R49C CTRCT9 P02489/R116C CTRCT9 P02489/R116H CTRCT9 P02511/D109H MFM2 P02511/R120G MFM2 P02511/G154S CMD1II P02511/R157H CMD1II Q9NSK7/T11M NBIA4 Q9NSK7/S39F NBIA4 Q9NSK7/A48P NBIA4 Q9NSK7/G53R NBIA4 Q9NSK7/P60L NBIA4 Q9NSK7/G65E NBIA4 Q9NSK7/G65V NBIA4 Q9NSK7/G69R NBIA4 Q9NSK7/P83L NBIA4 Q9NSK7/R98S NBIA4 Q9NSK7/L121Q NBIA4 Q9NSK7/A134P NBIA4 P07333/GKTLGAGAFGKVVEATAFGLGKEDAVLKVAVKMLK585A HDLS P07333/G589E HDLS P07333/E633K HDLS P07333/M766T HDLS P07333/A770P HDLS P07333/I775N HDLS P07333/I794T HDLS P07333/D837Y HDLS P07333/F849S HDLS P07333/L868P HDLS P07333/M875T HDLS P07333/P878T HDLS Q14430/G196R SMDP4 P01243/P3A CSH2 P01243/IS104L CSH2 Q5VT18/R28L FGS4 Q5VT18/Y268H MICPCH Q5VT18/P396S MICPCH Q5VT18/D710G MICPCH P50461/W4R CMD1M P50461/L44P CMH12 P50461/SE54RG CMH12 P50461/C58G CMH12 Q2NKJ3/A227V CRMCC Q2NKJ3/V259M CRMCC Q2NKJ3/G503R CRMCC Q2NKJ3/V665G CRMCC Q2NKJ3/R840W CRMCC Q2NKJ3/V871M CRMCC Q2NKJ3/R975G CRMCC Q2NKJ3/R987W CRMCC Q2NKJ3/L1142H CRMCC P35222/D32G PTR and hepatocellular carcinoma P35222/D32Y PTR, hepatoblastoma and hepatocellular carcinoma P35222/S33F PTR, MDB and hepatocellular carcinoma P35222/G34E PTR P35222/S37A MDB and hepatocellular carcinoma P35222/S37C PTR, hepatoblastoma and ovarian cancer P35222/S37F PTR P35222/T41I PTR, hepatocellular carcinoma and ovarian cancer O60931/G110V CTNS O60931/I133F CTNS O60931/S139F CTNS O60931/R151G CTNS O60931/S154SPCS CTNSJAN O60931/G157D CTNS O60931/L158P CTNS O60931/G169D CTNS O60931/Y173C CTNS O60931/N177S CTNS O60931/N177T CTNSJAN O60931/W182R CTNS O60931/G197R CTNSANN O60931/P200L CTNSJAN O60931/D205N CTNS O60931/Q222R CTNS O60931/K280R CTNSJAN O60931/M287I CTNS O60931/N288K CTNS O60931/S298N CTNS O60931/D305G CTNS O60931/D305Y CTNS O60931/G308R CTNS O60931/G308V CTNS O60931/G309D CTNS O60931/N323K CTNSJAN O60931/G337R CTNS O60931/L338P CTNS O60931/L338R CTNS O60931/G339R CTNS O60931/D346N CTNS O60931/F349FDVEF CTNS O60494/P1297L RH-MGA1 Q13618/D413G PHA2E Q13618/K459R PHA2E Q9UEB7/T213I MRXS15 Q9UEB7/R572C MRXS15 Q9UEB7/V745A MRXS15 Q14999/L1014R 3M1 Q14999/Q1246G 3M1 Q14999/H1464P 3M1 P14854/R20H MT-C4D P17302/G2V ODDD P17302/L7V ODDD P17302/L11P ODDD P17302/Y17S ODDD P17302/S18P ODDD P17302/G21R ODDD P17302/G22E ODDD P17302/K23T ODDD P17302/S27P ODDD P17302/I31M ODDD P17302/A40V ODDD P17302/Q49K ODDD P17302/Q49P ODDD P17302/Q49QQ ODDD P17302/F52FF ODDD P17302/P59H ODDD P17302/S69Y ODDD P17302/R76H HSS P17302/R76S ODDD P17302/L90V ODDD P17302/H95R ODDD P17302/V96A ODDD P17302/V96E ODDD P17302/V96M ODDD P17302/Y98C ODDD P17302/K102N ODDD P17302/L106P ODDD P17302/E110D ODDD P17302/L113P ODDD P17302/I130T ODDD P17302/K134E ODDD P17302/K134N ODDD P17302/G138R ODDD P17302/G143S SDTY3 P17302/M147T ODDD P17302/T154A ODDD P17302/T154N ODDD P17302/H194P ODDD P17302/S201F ODDD P17302/R202H ODDD P17302/V216L ODDD P17302/S220Y ODDD P17302/R362Q HLHS1 and AVSD3 P17302/R376Q HLHS1 and AVSD3 Q9Y6H8/G2D CTRCT14 Q9Y6H8/D3Y CTRCT14 Q9Y6H8/V28M CTRCT14 Q9Y6H8/F32L CTRCT14 Q9Y6H8/R33L CTRCT14 Q9Y6H8/V44M CTRCT14 Q9Y6H8/W45S CTRCT14 Q9Y6H8/D47N CTRCT14 Q9Y6H8/P59L CTRCT14 Q9Y6H8/N63S CTRCT14 Q9Y6H8/R76G CTRCT14 Q9Y6H8/R76H CTRCT14 Q9Y6H8/T87M CTRCT14 Q9Y6H8/P187L CTRCT14 Q9Y6H8/P187S CTRCT14 Q9Y6H8/N188T CTRCT14 P36382/V85I ATFB11 P36382/P88S FAS P36382/A96S FAS P36382/L221I ATFB11 P36382/L229M ATFB11 P48165/R23T CTRCT1 P48165/V44E CTRCT1 P48165/D47N CTRCT1 P48165/E48K CTRCT1 P48165/V64G CTRCT1 P48165/D67G CTRCT1 P48165/R76C CTRCT1 P48165/P88S CTRCT1 P48165/R198Q CTRCT1 P08034/W3R CMTX1 P08034/W3S CMTX1 P08034/YT7S CMTX1 P08034/Y7C CMTX1 P08034/T8I CMTX1 P08034/T8P CMTX1 P08034/L9W CMTX1 P08034/S11G CMTX1 P08034/G12S CMTX1 P08034/V13L CMTX1 P08034/V13M CMTX1 P08034/N14K CMTX1 P08034/R15Q CMTX1 P08034/R15W CMTX1 P08034/H16P CMTX1 P08034/IG20NS CMTX1 P08034/I20S CMTX1 P08034/G21D CMTX1 P08034/R22G CMTX1 P08034/R22P CMTX1 P08034/R22Q CMTX1 P08034/V23A CMTX1 P08034/W24C CMTX1 P08034/L25F CMTX1 P08034/L25P CMTX1 P08034/S26L CMTX1 P08034/S26W CMTX1 P08034/I28IIF CMTX1 P08034/I28N CMTX1 P08034/I28T CMTX1 P08034/F29L CMTX1 P08034/I30N CMTX1 P08034/I30T CMTX1 P08034/M34I CMTX1 P08034/M34K CMTX1 P08034/M34T CMTX1 P08034/M34V CMTX1 P08034/V35M CMTX1 P08034/V37M CMTX1 P08034/V38M CMTX1 P08034/A39P CMTX1 P08034/A39V CMTX1 P08034/A40T CMTX1 P08034/A40V CMTX1 P08034/E41K CMTX1 P08034/V43M CMTX1 P08034/W44L CMTX1 P08034/S49P CMTX1 P08034/S49Y CMTX1 P08034/S50P CMTX1 P08034/C53S CMTX1 P08034/T55A CMTX1 P08034/T55I CMTX1 P08034/T55R CMTX1 P08034/L56F CMTX1 P08034/Q57H CMTX1 P08034/P58R CMT-1 P08034/G59C CMTX1 P08034/G59R CMTX1 P08034/C60F CMTX1 P08034/V63I CMTX1 P08034/C64F CMTX1 P08034/C64S CMTX1 P08034/Y65C CMTX1 P08034/Y65H CMTX1 P08034/F69L CMTX1 P08034/P70A CMTX1 P08034/R75P CMTX1 P08034/R75Q CMTX1 P08034/R75W CMTX1 P08034/W77S CMTX1 P08034/Q80R CMTX1 P08034/L81F CMTX1 P08034/L83P CMTX1 P08034/V84I CMTX1 P08034/S85C CMTX1 P08034/S85F CMTX1 P08034/T86A CMTX1 P08034/T86N CMTX1 P08034/T86S CMTX1 P08034/P87A CMTX1 P08034/P87L CMTX1 P08034/P87S CMTX1 P08034/L89P CMTX1 P08034/L90H CMTX1 P08034/L90V CMTX1 P08034/V91M CMTX1 P08034/M93V CMTX1 P08034/H94D CMTX1 P08034/H94Q CMTX1 P08034/H94Y CMTX1 P08034/V95M CMTX1 P08034/H100Y CMTX1 P08034/E102G CMTX1 P08034/K103E CMTX1 P08034/K104T CMTX1 P08034/R107W CMTX1 P08034/L108P CMTX1 P08034/V120E CMTX1 P08034/K124N CMTX1 P08034/V125D CMTX1 P08034/H126Y CMTX1 P08034/I127M CMTX1 P08034/I127S CMTX1 P08034/S128P CMTX1 P08034/T130I CMTX1 P08034/L131P CMTX1 P08034/W133C CMTX1 P08034/W133R CMTX1 P08034/Y135C CMTX1 P08034/V136A CMTX1 and DSS P08034/S138N CMTX1 P08034/V139M CMTX1 P08034/F141L CMTX1 P08034/R142E CMTX1 P08034/R142Q CMTX1 P08034/R142W CMTX1 P08034/E146K CMTX1 P08034/A147D CMTX1 P08034/F149I CMTX1 P08034/F149V CMTX1 P08034/Y151S CMTX1 P08034/F153S CMTX1 P08034/L156F CMTX1 P08034/L156R CMTX1 P08034/Y157C CMTX1 P08034/P158A CMTX1 P08034/P158R CMTX1 P08034/P158S CMTX1 P08034/G159D CMTX1 P08034/G159S CMTX1 P08034/Y160H CMTX1 P08034/A161P CMTX1 P08034/R164Q CMTX1 P08034/R164W CMTX1 P08034/C168R CMTX1 P08034/C168Y CMTX1 P08034/P172A CMTX1 P08034/P172L CMTX1 P08034/P172R CMTX1 P08034/P172S CMTX1 P08034/C173R CMTX1 P08034/N175D CMT-1 P08034/V177A CMTX1 P08034/V177E CMTX1 P08034/D178Y CMTX1 P08034/C179R CMTX1 P08034/F180L CMTX1 P08034/F180S CMTX1 P08034/V181A CMTX1 P08034/V181M CMTX1 P08034/S182T CMTX1 P08034/R183C CMTX1 P08034/R183H CMTX1 P08034/R183S CMTX1 P08034/P184L CMTX1 P08034/P184R CMTX1 P08034/E186K CMTX1 P08034/K187E CMTX1 P08034/V189G CMTX1 P08034/V189I CMTX1 P08034/T191A CMTX1 P08034/V192F CMTX1 P08034/F193C CMTX1 P08034/F193L CMTX1 P08034/M194V CMTX1 P08034/S198F CMTX1 P08034/G199R CMTX1 P08034/C201R CMTX1 P08034/C201Y CMTX1 P08034/I203N CMTX1 P08034/L204F CMTX1 P08034/L204V CMTX1 P08034/N205I CMTX1 P08034/N205S CMTX1 P08034/E208G CMTX1 P08034/E208K CMTX1 P08034/Y211H CMTX1 P08034/II213L CMTX1 P08034/I213V CMTX1 P08034/R215Q CMTX1 P08034/R215W CMTX1 P08034/R219C CMTX1 P08034/R219H CMTX1 P08034/R220G CMTX1 P08034/R230C CMTX1 P08034/R230L CMTX1 P08034/F235C CMTX1 P08034/R238H CMTX1 P08034/L239I CMTX1 P08034/R264C CMTX1 P08034/C280G CMTX1 Q96AK0/G12R KID syndrome Q96AK0/S17F KID syndrome Q96AK0/R32H DFNB1A Q96AK0/V37I DFNB1A Q96AK0/W44C DFNA3A Q96AK0/W44S DFNA3A Q96AK0/D46E DFNA3A Q96AK0/D50N KID syndrome and HID syndrome Q96AK0/D50Y KID syndrome Q96AK0/N54K BPS Q96AK0/G59A PPKDFN Q96AK0/G59S BPS Q96AK0/D66H VS and PPKDFN Q96AK0/H73R PPKDFN Q96AK0/R75Q PPKDFN Q96AK0/R75W PPKDFN and DFNA3A Q96AK0/W77R DFNB1A Q96AK0/L79P DFNB1A Q96AK0/Q80K DFNB1A Q96AK0/V84L DFNB1A Q96AK0/V84M DFNB1A Q96AK0/T86R DFNB1A Q96AK0/L90P DFNB1A Q96AK0/M93I DFNB1A Q96AK0/V95M DFNB1A Q96AK0/S113R DFNB1A Q96AK0/E129K DFNB1A Q96AK0/G130A DFNB1A Q96AK0/G130D DFNB1A Q96AK0/G130V VS Q96AK0/R143Q DFNA3A Q96AK0/R143W DFNB1A Q96AK0/D159V DFNB1A Q96AK0/V178A DFNB1A Q96AK0/D179N DFNA3A Q96AK0/R184P DFNB1A Q96AK0/R184Q DFNA3A Q96AK0/R184W DFNB1A Q96AK0/A197S DFNA3A Q96AK0/C202F DFNA3A Q96AK0/I203K DFNB1A Q96AK0/L214P DFNB1A O75712/G12D EKV O75712/G12R EKV O75712/R42P EKV O75712/C86S EKV O75712/F137L EKV O75712/I141V DFNA2B O75712/E183K DFNA2B Q9NTQ9/F137L EKV O95452/T5M DFNA3B O95452/G11R ECTD2 O95452/V37E ECTD2 O95452/A88V ECTD2 O00574/D25A STRL33.3 Q5T442/I36M SPG44 Q5T442/S48L LMPH1C Q5T442/P90S HLD2 Q5T442/R260C LMPH1C Q5T442/Y272D HLD2 Q5T442/M286T HLD2 P13498/G24R ARCGD P13498/G25V ARCGD P13498/L52P ARCGD P13498/E53V ARCGD P13498/R90Q ARCGD P13498/R90W ARCGD P13498/H94R ARCGD P13498/S118R ARCGD P13498/A124V ARCGD P13498/A125T ARCGD P13498/P156Q ARCGD P04839/W18C CGD P04839/G20R CGD P04839/Y41D CGD P04839/R54M CGD P04839/R54S CGD P04839/A55D CGD P04839/A57E CGD P04839/C59R CGD P04839/C59W CGD P04839/H101R CGD P04839/H101Y CGD P04839/H119R CGD P04839/A156T CGD P04839/T178P AMCBX2 P04839/G179R CGD P04839/S193F CGD P04839/F205I CGD P04839/H209Q CGD P04839/H209R CGD P04839/H209Y CGD P04839/H222N CGD P04839/H222R CGD P04839/H222Y CGD P04839/G223L CGD P04839/A224G CGD P04839/E225V CGD P04839/Q231P AMCBX2 P04839/C244R CGD P04839/C244S CGD P04839/C244Y CGD P04839/H303N CGD P04839/P304R CGD P04839/T307P CGD P04839/E309K CGD P04839/G322E CGD P04839/I325F CGD P04839/S333P CGD P04839/H338Y CGD P04839/P339H CGD P04839/L342Q CGD P04839/S344F CGD P04839/R356P CGD P04839/G389A CGD P04839/G389E CGD P04839/M405R CGD P04839/G408E CGD P04839/G408R CGD P04839/P415H CGD P04839/P415L CGD P04839/L420P CGD P04839/S422P CGD P04839/W453R CGD P04839/A488D CGD P04839/D500E CGD P04839/D500G CGD P04839/L505R CGD P04839/W516C CGD P04839/W516R CGD P04839/V534D CGD P04839/C537R CGD P04839/L546P CGD Q9B2X7/D171N LHON Q9B2X7/G251D CMIH Q9B2X7/V356M LHON P99999/G42S THC4 P99999/M66L 10% of the molecules Q96F07/K320E RNA edited version Q9NQC7/E747G M1 and BRSS P04080/G4R EPM1 P01034/L94Q AMYL6 P28325/C46R 45% of the population Q69YQ0/Q415P OBLFC1 Q8N465/I147S D2HGA1 Q8N465/D375Y D2HGA1 Q8N465/N439D D2HGA1 Q8N465/V444A D2HGA1 Q8NEP3/L175R CILD13 Q8N9W5/L61P CILD2 Q9NYF0/R45W NTD Q9NYF0/N356K NTD Q14UF3/R52L Tc(b Q14UF3/R52P Tc(c Q14UF3/L82R WES(a Q14UF3/S199L Dr(a- Q14UF3/A227P Cr(a- Q14UF3/R240H GUTI(- Q14118/T192M MDDGC9 Q9NR28/S126L DFNA64 Q99259/S12C CPSQ1 Q5JSS0/H35D Omenn syndrome Q5JSS0/G118V RS-SCID Q5JSS0/G135E RS-SCID Q9BRM9/G59S HMN7B Q9BRM9/G71A PERRYS Q9BRM9/G71E PERRYS Q9BRM9/G71R PERRYS Q9BRM9/T72P PERRYS Q9BRM9/Q74P PERRYS P06132/G25E FPCT P06132/F46L HEP P06132/P62L HEP P06132/A80G HEP P06132/A80S FPCT P06132/V134Q FPCT and HEP P06132/R142Q FPCT P06132/R144P FPCT P06132/G156D FPCT P06132/L161Q FPCT P06132/M165R FPCT P06132/E167K HEP and FPCT P06132/G168R HEP P06132/G170D HEP P06132/R193P FPCT P06132/L195F FPCT P06132/L216Q FPCT P06132/E218K FPCT P06132/S219F FPCT P06132/H220P HEP P06132/F229L FPCT P06132/F232L FPCT P06132/P235S FPCT P06132/L253Q FPCT P06132/I260T FPCT P06132/G281E FPTC and HEP P06132/G281V FPCT P06132/L282R FPCT P06132/R292G HEP P06132/G303S FPCT P06132/N304K FPCT P06132/Y311C HEP P06132/G318R FPCT P06132/M324T FPCT P06132/R332H FPCT P06132/I334T FPCT O43602/T123I LISX1 O43602/L124S LISX1 O43602/S128R LISX1 and SBHX O43602/K131N SBHX O43602/R140H SBHX O43602/R140L LISX1 and SBHX O43602/N141D LISX1 O43602/D143N LISX1 and SBHX O43602/G148E SBHX O43602/A152S LISX1 O43602/R159H SBH O43602/R159L SBHX O43602/D167H SBHX O43602/R170G SBHX O43602/L178R SBHX O43602/G181A LISX1 and SBHX O43602/R183S LISX1 O43602/I185T SBHX O43602/Y206D SBHX O43602/Y206H LISX1 and SBHX O43602/R259C SBHX O43602/R259L SBHX O43602/R267C SBHX O43602/P272L SBHX O43602/P272R SBHX O43602/R273W LISX1 and SBHX O43602/R277H LISX1 O43602/N281I SBHX O43602/N281K SBHX O43602/T284A SBHX O43602/T284R LISX1 and SBHX O43602/I295T SBHX O43602/T303I SBHX O43602/G304E SBHX O43602/G304V SBHX O43602/V317I SBHX O43602/F324L LISX1 O43602/I331N SBHX O43602/I331T SBHX O43602/A332S SBHX O43602/A332V SBHX O43602/G334D SBHX Q92466/K244E XP-E Q92466/R273H XP-E P20711/P47H AADCD P20711/A91V AADCD P20711/G102S AADCD P20711/S147R AADCD P20711/S250F AADCD P20711/A275T AADCD P20711/F309L AADCD P20711/R347Q AADCD P20711/L408I AADCD O94830/D660H SPG54 Q16832/E113K SEMD-SL Q16832/T713I SEMD-SL Q16832/I726R SEMD-SL Q16832/R752C SEMD-SL Q96FC9/R263Q WBRS Q5THZ1/A452V FFEVF Q5THZ1/R485Q FFEVF Q5THZ1/S1073R FFEVF Q5THZ1/S1104L FFEVF Q8NEU6/S2I MFM1 Q8NEU6/S7F MFM1 Q8NEU6/S13F MFM1 Q8NEU6/S46F MFM1 Q8NEU6/S46Y MFM1 Q8NEU6/N116S MFM1 Q8NEU6/E245D MFM1 Q8NEU6/A337P MFM1 Q8NEU6/L338R MFM1 Q8NEU6/N342D MFM1 Q8NEU6/L345P MFM1 Q8NEU6/R350P Kaeser syndrome and MFM1 Q8NEU6/R355P MFM1 Q8NEU6/A357P MFM1 Q8NEU6/A360P MFM1 Q8NEU6/L370P MFM1 Q8NEU6/L385P MFM1 Q8NEU6/Q389P MFM1 Q8NEU6/N393I MFM1 Q8NEU6/D399Y MFM1 Q8NEU6/E401K MFM1 Q8NEU6/R406W MFM1 Q8NEU6/P419S MFM1 Q8NEU6/T442I MFM1 Q8NEU6/K449M MFM1 Q8NEU6/K449T MFM1 Q8NEU6/I451M CMD1I and MFM1 Q8NEU6/R454W MFM1 Q8NEU6/S460I MFM1 P15924/N287K SFWHS P15924/S299R ARVD8 P15924/I445V ARVD8 P15924/R1255K ARVD8 P15924/R1775I ARVD8 P15924/R2366C SFWHS P52429/R63P AHUS7 P52429/R273P AHUS7 Q16854/R142K MTDPS3 Q16854/E227K MTDPS3 Q16854/L250S MTDPS3 P37058/A56T MPH P37058/S65L MPH P37058/R80Q MPH P37058/R80W MPH P37058/N130S MPH P37058/Q176P MPH P37058/A203V MPH P37058/V205E MPH P37058/F208I MPH P37058/E215D MPH P37058/S232L MPH P37058/M235V MPH P37058/C268Y MPH P37058/P282L MPH P51659/G16S DBPD P51659/R106P DBPD P51659/Y217C PRLTS1 P51659/N457Y DBPD Q15392/E191K DESMOS Q15392/N294T DESMOS Q15392/K306N DESMOS Q15392/Y471S DESMOS Q9UBM7/P51S SLOS Q9UBM7/L68P SLOS Q9UBM7/T93M SLOS Q9UBM7/L99P SLOS Q9UBM7/Q107H SLOS Q9UBM7/L109P SLOS Q9UBM7/S113C SLOS Q9UBM7/H119L SLOS Q9UBM7/G138V SLOS Q9UBM7/I145L SLOS Q9UBM7/G147D SLOS Q9UBM7/T154M SLOS Q9UBM7/L157P SLOS Q9UBM7/S169L SLOS Q9UBM7/W182C SLOS Q9UBM7/W182L SLOS Q9UBM7/C183Y SLOS Q9UBM7/K198E SLOS Q9UBM7/F235S SLOS Q9UBM7/R242C SLOS Q9UBM7/R242H SLOS Q9UBM7/G244R SLOS Q9UBM7/A247V SLOS Q9UBM7/W248C SLOS Q9UBM7/F255L SLOS Q9UBM7/V281M SLOS Q9UBM7/T289I SLOS Q9UBM7/I297T SLOS Q9UBM7/C311G SLOS Q9UBM7/C311Y SLOS Q9UBM7/Y324H SLOS Q9UBM7/V326L SLOS Q9UBM7/G344R SLOS Q9UBM7/R352Q SLOS Q9UBM7/R352W SLOS Q9UBM7/V353A SLOS Q9UBM7/R362C SLOS Q9UBM7/C380R SLOS Q9UBM7/C380S SLOS Q9UBM7/C380Y SLOS Q9UBM7/S397L SLOS Q9UBM7/R404C SLOS Q9UBM7/R404S SLOS Q9UBM7/H405Y SLOS Q9UBM7/Y408H SLOS Q9UBM7/G410R SLOS Q9UBM7/G410S SLOS Q9UBM7/H426P SLOS Q9UBM7/R443C SLOS Q9UBM7/R446Q SLOS Q9UBM7/E448K SLOS Q9UBM7/E448Q SLOS Q9UBM7/R450L SLOS Q8NE90/K42E RP59 P00367/S270C HHF6 P00367/R274C HHF6 P00367/R318K HHF6 P00367/R318T HHF6 P00367/Y319C HHF6 P00367/R322C HHF6 P00367/R322H HHF6 P00367/E349A HHF6 P00367/S498L HHF6 P00367/G499D HHF6 P00367/G499S HHF6 P00367/S501P HHF6 P00367/H507Y HHF6 O43323/L162P GDXYM Q9UC51/L179R AME Q9UC51/S180F AME Q9UC51/R186C AME Q9UC51/R208C AME Q9UC51/R208H AME Q9UC51/R213C AME Q9UC51/D223N AME Q9UC51/A237V AME Q9UC51/D244N AME Q9UC51/LL250PS AME Q9UC51/L250R AME Q9UC51/R279C AME Q9UC51/A328V AME Q9UC51/RY337H AME Q9UC51/R337C AME Q9UC51/Y338H AME P09417/L14P HPABH4C P09417/G17R HPABH4C P09417/G17V HPABH4C P09417/G18D HPABH4C P09417/G23D HPABH4C P09417/W36R HPABH4C P09417/Q66R HPABH4C P09417/L74P HPABH4C P09417/W108G HPABH4C P09417/T123TT HPABH4C P09417/P145L HPABH4C P09417/G149R HPABH4C P09417/Y150C HPABH4C P09417/G151S HPABH4C P09417/H158Y HPABH4C P09417/G170S HPABH4C P09417/F212C HPABH4C P09417/G218GITG HPABH4C P31040/A524V LS P31040/R554W LS P31040/G555E MT-C2D and CMD1GG P31040/R589W PGL5 P21912/A3G CWS2 P21912/P131R PGL4 P21912/H132P PGL4 P21912/S163P CWS2 P21912/P197R PGL4 O14521/P81L PGL1 and pheochromocytoma O14521/D92Y PGL1 and pheochromocytoma O14521/H102L PGL1 O14521/Y114C PGL1 O14521/L139P PGL1 O14521/G148V PGL1 Q96HY7/G729R AMOXAD Q8IYB7/C489Y PRLMNS Q9UPY3/S839F MNG1 Q9UPY3/L1583R PPB O60832/A2V DKCX O60832/F36V DKCX O60832/I38T HHS O60832/K39E DKCX O60832/P40R DKCX O60832/E41K DKCX O60832/T49M HHS O60832/L56S DKCX O60832/R65T DKCX O60832/T66A DKCX O60832/L72F DKCX O60832/L72Y DKCX O60832/S121G HHS O60832/L317F DKCX O60832/L321V DKCX O60832/R322Q DKCX O60832/M350I DKCX O60832/M350T DKCX O60832/A353V DKCX and HHS O60832/G402E DKCX O60832/G402R DKCX O60832/P409L DKCX P09622/K72E DLD deficiency P09622/G229C DLD deficiency P09622/P488L DLD deficiency P09622/R495G DLD deficiency Q9NYJ7/G385D SCDO1 Q86YH6/S382L COQ10D3 P56178/Q178P SHFM1D Q8N754/K18N CMD3B Q8N754/L54R DMD Q8N754/A168D BMD Q8N754/A171P BMD Q8N754/Y231N BMD Q8N754/T279A CMD3B Q8N754/D645G DMD Q8N754/K773E DMD Q8N754/N1672K CMD3B Q8N754/H2921R BMD Q8N754/F3228L CMD3B Q8N754/D3335H DMD Q8N754/C3340Y DMD Q8N754/A3421V BMD Q8IXL6/G379E RNS Q8IXL6/G379R RNS Q8IXL6/L388R RNS Q8IXL6/R549W RNS P51530/R198H PEOA6 P51530/K227E PEOA6 P51530/V637I PEOA6 Q9UI46/G515S KTGS Q4LDG9/N150S CILD16 Q9UIK6/F89I LGMD1E Q9UIK6/F93L LGMD1E Q9UIK6/P96R LGMD1E Q9H3Z4/L115R CLN4B P49917/R278H LIG4S and leukemia P49917/G469E LIG4S Q9Y5J2/A395D EMPF Q9UBD4/S270P ICF1 Q9UBD4/A585V ICF1 Q9UBD4/A603T ICF1 Q9UBD4/V606A ICF1 Q9UBD4/G663S ICF1 Q9UBD4/L664P ICF1 Q9UBD4/V699G ICF1 Q9UBD4/V726G ICF1 Q9UBD4/A766P ICF1 Q9UBD4/E806ESTP ICF1 Q9UBD4/H814R ICF1 Q9UBD4/D817G ICF1 Q9UBD4/V818M ICF1 Q9UBD4/R840Q ICF1 P26358/DP490EY HSN1E P26358/Y495C HSN1E P26358/A554V ADCADN P26358/G589A ADCADN P26358/V590F ADCADN Q8TEP1/K473R AR-HIES Q18PE1/E3K LGM Q18PE1/P31T LGM Q18PE1/A33V LGM Q18PE1/T77M LGM Q18PE1/G109C LGM Q18PE1/V116M LGM Q18PE1/H132Q LGM Q18PE1/V139L LGM Q18PE1/P146L LGM Q18PE1/L157R LGM Q18PE1/R158Q LGM Q18PE1/G161R LGM Q18PE1/G166R LGM Q18PE1/G171D LGM Q18PE1/G171R LGM Q18PE1/G172R LGM Q18PE1/G180A LGM Q18PE1/G180V LGM Q18PE1/P469H LGM Q9UPQ8/C99S CDG1M Q9UPQ8/Y441S CDG1M P09172/V101M DBH deficiency P09172/D114E DBH deficiency P09172/D345N DBH deficiency O60762/R92G CDG1E O60762/S248P CDG1E O94777/Y23C CDG1U Q9P2X0/L85S CDG1O P28340/S478N CRCS10 Q07864/L424V CRCS12 P54098/R3P PEOB P54098/R227W PEOB and MTDPS4B P54098/R232G MTDPS4A P54098/R232H LS P54098/L244P MTDPS4A P54098/T251I PEOB, MTDPS4A and MTDPS4B P54098/G268A PEOB P54098/L304R PEOB P54098/L304SANDO PEOB P54098/Q308H PEOB P54098/R309L PEOB P54098/W312R PEOB P54098/G380D PEOB P54098/G431V PEOB P54098/A467T PEOB, SANDO and MTDPS4A P54098/N468D PEOB P54098/Q497H SANDO P54098/S511N PEOA1 P54098/G517V SANDO P54098/R562Q PEOB P54098/R574W PEOB P54098/R579W PEOB P54098/P587L PEOB, MTDPS4A and MTDPS4B P54098/M603L PEOB P54098/R627Q SANDO P54098/R627W SANDO P54098/P648R PEOB P54098/G737R PEOB P54098/W748S SANDO and MTDPS4A P54098/A767D MTDPS4A P54098/R807C SANDO P54098/R807P PEOB P54098/Y831C PEOA1 and MTDPS4A P54098/G848S PEOB, MTDPS4A, MTDPS4B and LS P54098/R853W PEOB P54098/N864S MTDPS4B P54098/Q879H MTDPS4A P54098/T885S MTDPS4A P54098/A889T PEOB P54098/T914P MTDPS4A P54098/G923D PEOA1 P54098/H932Y SANDO and PEOB P54098/R943H PEOA1 P54098/R953C PEOA1 P54098/Y955C PEOA1 P54098/A957P MTDPS4A P54098/A957S PEOA1 P54098/R1047Q PEOB P54098/G1051R SANDO P54098/G1076V PEOB P54098/R1096C PEOB P54098/R1096H MTDPS4A P54098/S1104C PEOB P54098/A1105T PEOB P54098/V1106I PEOB P54098/H1110Y MTDPS4A P54098/H1134R MTDPS4A P54098/E1136K MTDPS4A P54098/R1146C PEOB P54098/S1176L PEOA1 P54098/D1184N PEOB P54098/D1186H PEOA1 P54098/K1191N MTDPS4A Q9UHN1/G451E PEOA4 Q5T2R2/D308E COQ10D2 Q16761/C29R DPYDD Q16761/R235W DPYDD Q16761/R886H DPYDD Q14117/T68R DHPD Q14117/Q334R DHPD Q14117/W360R DHPD Q14117/G435R DHPD Q14117/R490T DHPD P14416/V154I DYT11 P21917/V194G Afro-Caribbeans Q02487/R203C ARVD11 Q02487/I231T ARVD11 Q02487/T275M ARVD11 Q02487/T340A ARVD11 Q14126/R46Q ARVD10 Q14126/R49H ARVD10 Q14126/T335A ARVD10 Q14126/C507Y ARVD10 Q14126/G812C ARVD10 Q9NZW4/Y6D DTDP2 Q9NZW4/A15V DGI2 Q9NZW4/P17S DGI2 Q9NZW4/P17T DFNA39/DGI1 Q9NZW4/V18F DFNA39/DGI1 and DGI3 Q9NZW4/R68W DGI2 Q9BYM4/P193A AGS6 Q9BYM4/A870T AGS6 Q9BYM4/I872T AGS6 Q9BYM4/R892H AGS6 Q9BYM4/L923P DSH1 Q9BYM4/C966F DSH1 Q9BYM4/K999N AGS6 Q9BYM4/G1007R AGS6 Q9BYM4/Y1112F AGS6 Q9BYM4/D1113H AGS6 Q9BYM4/R1155W DSH1 Q9BYM4/F1165S DSH1 Q59GK7/P121L LVNC1 Q9NRD8/Q36H TDH6 Q9NRD8/R376W TDH6 Q9NRD8/G1518S TDH6 Q16828/F77I HH19 Q16828/S182F HH19 Q16828/N189S HH19 Q16828/T346M HH19 Q96DT5/R3004Q CILD7 Q8TE73/R1716L CILD3 Q8TE73/S2264N CILD3 Q8TE73/E2347K CILD3 Q8TE73/R2501P CILD3 Q8TE73/F2843S CILD3 Q8TE73/W3409S CILD3 Q8TE73/G3519R KTGS Q8TE73/S3843L CILD3 Q8TE73/G4205V CILD3 Q14204/H306R CMT2O and SMALED1 Q14204/I584L SMALED1 Q14204/K671E SMALED1 Q14204/Y970C SMALED1 Q14204/E1518K MRD13 Q14204/H3822P MRD13 Q8N977/F209I SRPS3 Q8N977/R330C SRPS2B Q8N977/R338G SRPS2B Q8N977/R430C SRPS2B Q8N977/K495R SRPS2B Q8N977/R587C SRPS3 Q8N977/L871P ATD3 Q8N977/L1228I ATD3 Q8N977/I1240T ATD3 Q8N977/M1379V ATD3 Q8N977/R1423C SRPS2B Q8N977/G1442D ATD3 Q8N977/Q1537R ATD3 Q8N977/T1987A SRPS3 Q8N977/M1991K ATD3 Q8N977/M1991L ATD3 Q8N977/R2205H SRPS3 Q8N977/M2227V ATD3 Q8N977/A2304T ATD3 Q8N977/N2362S ATD3 Q8N977/G2461V SRPS3 Q8N977/R2481Q ATD3 Q8N977/P2496S SRPS2B Q8N977/R2532W ATD3 Q8N977/V2555M ATD3 Q8N977/Y2573C ATD3 Q8N977/I2640T ATD3 Q8N977/R2662Q SRPS2B Q8N977/I2819M ATD3 Q8N977/D3015G ATD3 Q8N977/P3381L ATD3 Q8N977/L3762V ATD3 Q8N977/R3806C ATD3 Q8N977/W3847G ATD3 Q8N977/L4232R ATD3 Q9NPU7/E87K SMC1 Q9NPU7/N469Y DMC Q9NPU7/C542R SMC1 P50570/G358R CMT2M P50570/E368K CNM1 P50570/E368Q CNM1 P50570/R369Q CNM1 P50570/R369W CNM1 P50570/R465W CNM1 P50570/R522C CNM1 P50570/R522H CNM1 P50570/R523G CNM1 P50570/G537C CMT2M P50570/E560K CNM1 P50570/K562E CMTDIB P50570/L570H CMT2M P50570/A618D CNM1 P50570/A618T CNM1 P50570/S619L CNM1 P50570/S619W CNM1 P50570/L621P CNM1 P50570/P627H CNM1 P50570/P627R CNM1 P50570/E650K CNM1 P00374/L80F DHFRD P00374/D153V DHFRD Q0H395/W52R LGMD2B Q0H395/V67D MMD1 and LGMD2B Q0H395/G155R LGMD2B Q0H395/A170E MMD1, LGMD2B and isolated hyperCKemia Q0H395/G234E LGMD2B Q0H395/I284T LGMD2B Q0H395/G299E MMD1 Q0H395/G299R LGMD2B and proximodistal myopathy Q0H395/G299W MMD1 Q0H395/V374L MMD1 Q0H395/FRAED386Y MMD1 Q0H395/E389Q MMD1 Q0H395/G426R MMD1 Q0H395/G426V MMD1 Q0H395/C456W MMD1 Q0H395/G519R MMD1 Q0H395/G618R MMD1 and LGMD2B Q0H395/G621R LGMD2B Q0H395/D625Y LGMD2B Q0H395/P731R LGMD2B Q0H395/P791R MMD1 and LGMD2B Q0H395/W930C LGMD2B Q0H395/R959W MMD1 and LGMD2B Q0H395/W999C MMD1 Q0H395/R1022Q LGMD2B Q0H395/P1029L MMD1 Q0H395/R1038Q LGMD2B Q0H395/R1041C MMD1 Q0H395/R1046H MMD1 Q0H395/I1208M LGMD2B Q0H395/L1228P LGMD2B Q0H395/I1298V MMD1 and LGMD2B Q0H395/E1335K MMD1 and LGMD2B Q0H395/L1341P LGMD2B Q0H395/C1361R MMD1 Q0H395/Y1505C LGMD2B Q0H395/K1526T LGMD2B Q0H395/G1543D LGMD2B Q0H395/T1662R MMD1 Q0H395/G1679E MMD1 Q0H395/R1693Q MMD1 Q0H395/R1693W MMD1 Q0H395/E1734G LGMD2B Q0H395/R1768W LGMD2B and proximodistal myopathy Q0H395/D1837N MMD1 Q0H395/G1842D MMD1 Q0H395/H1857R MMD1 Q0H395/L1922P MMD1 Q0H395/C1942G MMD1 Q0H395/P1970S LGMD2B Q0H395/R2000Q MMD1 Q0H395/R2042C MMD1, LGMD2B and proximodistal myopathy Q0H395/P2068L MMD1 Q9NZJ5/R588Q WRS Q96CV5/P854S MRD11 P43003/P290R EA6 Q15125/E80K CDPX2 Q15125/R110Q CDPX2 Q15125/R147G CDPX2 Q15125/R147H CDPX2 Q5THM7/R754C HSCRCDAD O95672/R404C DA5D O95672/R418S DA5D O95672/G607S DA5D O95672/C760R DA5D P40939/V282D TFP deficiency P40939/I305N TFP deficiency P40939/L342P LCHAD deficiency P40939/E510Q AFLP and LCHAD deficiency P55084/G59D TFP deficiency P55084/R61C TFP deficiency P55084/R61H TFP deficiency P55084/R117G TFP deficiency P55084/L121P TFP deficiency P55084/T133P TFP deficiency P55084/D242G TFP deficiency P55084/R247H TFP deficiency P55084/D263G TFP deficiency P55084/G280D TFP deficiency P55084/P294L TFP deficiency P55084/P294R TFP deficiency P55084/G301S TFP deficiency P55084/R444K TFP deficiency Q8IZ60/F167I LiP Q8WWZ3/D114Y ECTD11A Q8WWZ3/L122R ECTD11A Q8WWZ3/E152K ECTD11B Q9UNE0/C47Y ECTD10B Q9UNE0/C87R ECTD10B Q9UNE0/R89H ECTD10B Q9UNE0/R98Q ECTD10B Q9UNE0/D110A ECTD10B Q9UNE0/C148R ECTD10B Q9UNE0/R358Q ECTD10B Q9UNE0/R375H ECTD10B Q9UNE0/L377F ECTD10B Q9UNE0/G382S ECTD10B Q9UNE0/Q396QQ ECTD10B Q9UNE0/T403M ECTD10B Q9UNE0/I408F ECTD10B Q9UNE0/T413P ECTD10B Q9UNE0/I418T ECTD10B Q9UNE0/R420Q ECTD10A and ECTD10B Q9UNE0/W434C ECTD10B Q9UNE0/W434R ECTD10B Q9UP77/H54Y XHED Q9UP77/L55R XHED Q9UP77/C60R XHED Q9UP77/Y61H XHED Q9UP77/E63K XHED Q9UP77/R65G STHAGX1 Q9UP77/R69L XHED Q9UP77/R153C XHED Q9UP77/R155C XHED Q9UP77/R156C XHED Q9UP77/R156G XHED Q9UP77/R156H XHED Q9UP77/R156S XHED Q9UP77/K158N XHED Q9UP77/G189E XHED Q9UP77/G198A XHED Q9UP77/G207R XHED Q9UP77/G207V XHED Q9UP77/P209L XHED Q9UP77/T211R XHED Q9UP77/G218D XHED Q9UP77/G224A XHED Q9UP77/H252L XHED Q9UP77/H252Y XHED Q9UP77/G255C XHED Q9UP77/G255D XHED Q9UP77/L266R XHED Q9UP77/G269V XHED Q9UP77/W274G XHED Q9UP77/W274R XHED Q9UP77/G291R XHED Q9UP77/G291W XHED Q9UP77/L293P XHED Q9UP77/L296V XHED Q9UP77/D298H XHED Q9UP77/D298Y XHED Q9UP77/G299D XHED Q9UP77/G299S XHED Q9UP77/F302S XHED Q9UP77/Q306H XHED Q9UP77/V307G XHED Q9UP77/S319R XHED Q9UP77/Y320C XHED Q9UP77/V323G XHED Q9UP77/C332Y XHED Q9UP77/T338M STHAGX1 Q9UP77/Y343C XHED Q9UP77/C346Y XHED Q9UP77/A349T XHED Q9UP77/L354P XHED Q9UP77/A356D XHED Q9UP77/A356V XHED Q9UP77/R357P XHED Q9UP77/Q358E XHED Q9UP77/I360N XHED Q9UP77/N372D XHED Q9UP77/M373I XHED Q9UP77/S374R XHED Q9UP77/T378M XHED Q9UP77/T378P XHED Q9UP77/G381R XHED P14138/A17T HSCR4 P14138/Y127C WS4B P14138/C159F WS4B P14138/A224T HSCR4 Q8NHM8/A183G WS4A Q8NHM8/W276C HSCR2 Q8NHM8/F292L WS4A Q8NHM8/S305N HSCR2 Q8NHM8/R319W HSCR2 Q8NHM8/M374I HSCR2 Q8NHM8/P383L HSCR2 Q96RP9/N174S COXPD1 Q96RP9/M496R COXPD1 Q5JVL4/P77T EJM1 Q5JVL4/D210N EJM1 Q5JVL4/R221H EJM1 Q5JVL4/F229L EJM1 Q5JVL4/D253Y EJM1 Q5JVL4/R353W EJM1 P98172/P27R CFNS P98172/P54L CFNS P98172/I62T CFNS P98172/L98S CFNS P98172/T111I CFNS P98172/Q115P CFNS P98172/P119H CFNS P98172/P119S CFNS P98172/P119T CFNS P98172/T137A CFNS P98172/S138F CFNS P98172/G151S CFNS P98172/G151V CFNS P98172/C153S CFNS P98172/C153Y CFNS P98172/T155P CFNS P98172/M158I CFNS P98172/M158V CFNS P98172/S182R CFNS P43897/R312W COXPD3 P49411/R336Q COXPD4 P01133/P1070L HOMG4 Q9GZT9/P317R ECYT3 Q9GZT9/R371H ECYT3 P17813/L8P HHT1 P17813/V49F HHT1 P17813/G52V HHT1 P17813/C53R HHT1 P17813/L107R HHT1 P17813/W149C HHT1 P17813/A160D HHT1 P17813/L221P HHT1 P17813/I263T HHT1 P17813/L306P HHT1 P17813/C412S HHT1 P17813/G413V HHT1 P17813/V504M HHT1 P17813/S615L HHT1 P11161/I268N CHN P11161/D355V CMT1D P11161/R359W DSS and CMT1D P11161/R381C CMT1D P11161/R381H CMT1D P11161/SD382RY CHN P11161/D383Y CMT1D P11161/R409W CMT1D Q9H9B1/C1075Y KLESTS Q14232/V183F VWM Q14232/N208Y VWM P49770/V85E VWM P49770/S171F VWM P49770/P196S VWM P49770/G200V VWM P49770/E213G VWM P49770/C268Y VWM P49770/K273R VWM P49770/V316D VWM P49770/G329V VWM Q9UI10/R209Q VWM Q9UI10/A228V VWM Q9UI10/L269R VWM Q9UI10/R357Q VWM Q9UI10/R374C VWM Q9UI10/C465R VWM Q9UI10/Y489H VWM Q13144/D62V VWM Q13144/L68S VWM Q13144/V73G VWM Q13144/A74T VWM Q13144/T91A VWM Q13144/L106F VWM Q13144/R113C VWM Q13144/R113H VWM Q13144/R195C VWM Q13144/R195H VWM Q13144/R269G VWM Q13144/R269Q VWM Q13144/D270H VWM Q13144/R299H VWM Q13144/C310F VWM Q13144/R315C VWM Q13144/R315G VWM Q13144/R315H VWM Q13144/C335R VWM Q13144/C335S VWM Q13144/R339P VWM Q13144/R339Q VWM Q13144/R339W VWM Q13144/N376D VWM Q13144/G386V VWM Q13144/V430A VWM Q13144/S447L VWM Q13144/W628R VWM Q13144/E650K VWM Q9NR50/L27Q VWM Q9NR50/G47E VWM Q9NR50/A87V VWM Q9NR50/R225Q VWM Q9NR50/I346T VWM P08246/A25V SCN1 P08246/G32V CH P08246/C55Y GFI1 P08246/A57T GFI1 P08246/I60T GFI1 P08246/C71R GFI1 P08246/C71S GFI1 P08246/G85E GFI1 P08246/V98L GFI1 P08246/V101L GFI1 P08246/V101M GFI1 P08246/L123PQL GFI1 P08246/S126L GFI1 P08246/P139L GFI1 P08246/C151S GFI1 P08246/A166T SCN1 P08246/V177F CH P08246/R191Q CH P08246/P205R GFI1 P08246/G210V GFI1 P08246/G214R GFI1 O95163/R696P HSAN3 P50402/S54F EDMD1 P50402/Q133H EDMD1 P50402/P183H EDMD1 P50402/P183T EDMD1 P13929/G156D GSD13 P13929/G374E GSD13 P22413/L91P OPLL P22413/P250L GACI1 P22413/G266V ARHR2 P22413/S287F OPLL P22413/P305T GACI1 P22413/G342V GACI1 P22413/Y371F GACI1 P22413/D538H GACI1 P22413/L579F GACI1 P22413/G586R GACI1 P22413/R774C GACI1 P22413/Y901S ARHR2 Q5NDL2/W207S AOS4 Q5NDL2/R377Q AOS4 Q99814/P534L ECYT4 Q99814/M535T ECYT4 Q99814/M535V ECYT4 Q99814/G537R ECYT4 Q99814/G537W ECYT4 Q99814/F540L ECYT4 P16452/A112T SPH5 P16452/D145Y SPH5 P16452/R280Q SPH5 P16452/R287C SPH5 P16422/C66Y DIAR5 Q9HCE0/Q336R VICIS P29317/R721Q CTRCT6 P29317/T940I CTRCT6 P29317/G948W CTRCT6 Q8IX25/S25P EPM2 Q8IX25/E28K EPM2 Q8IX25/W32G EPM2 Q8IX25/F84L EPM2 Q8IX25/F88L EPM2 Q8IX25/R91P EPM2 Q8IX25/R108C EPM2 Q8IX25/K140N EPM2 Q8IX25/N148Y EPM2 Q8IX25/R171H EPM2 Q8IX25/T187A EPM2 Q8IX25/T194I EPM2 Q8IX25/E210K EPM2 Q8IX25/G240S EPM2 Q8IX25/G279S EPM2 Q8IX25/Q293L EPM2 Q8IX25/Y294N EPM2 Q8IX25/P301L EPM2 Q8IX25/L310W EPM2 P19235/N487S ECYT1 and erythroleukemia P19235/P488S ECYT1 P07992/F231L COFS4 P18074/G47R XP-D P18074/T76A XP-D P18074/R112H TTDP and XP-D P18074/D234N XP-D P18074/C259Y TTDP P18074/L461V XP-D and TTDP P18074/L485P XP-D P18074/R487G TTDP P18074/R511Q XP-D P18074/S541R XP-D P18074/Y542C XP-D P18074/EK582VSE XP-D P18074/R592P TTDP P18074/A594P TTDP P18074/R601L XP-D P18074/R601W XP-D P18074/G602D XP-D P18074/R616P XP-D and TTDP P18074/R616W XP-D and COFS2 P18074/R658C TTDP P18074/R658G TTDP P18074/R658H TTDP P18074/C663R TTDP P18074/R666W XP-D P18074/D673G TTDP P18074/G675R XP-D/CS P18074/D681N XP-D and COFS2 P18074/R683Q XP-D P18074/R683W XP-D P18074/G713R TTDP P18074/R722W TTDP P18074/A725P TTDP P19447/F99S XP-B P19447/T119P TTDP P28715/P72H XP-G P28715/A792V XP-G P28715/L858P XP-G P28715/A874T XP-G Q03468/R670W CSB Q03468/N680D CSB Q03468/W686C CSB Q03468/S687L CSB Q03468/W851R CSB Q03468/L871P COFS1 Q03468/V957G CSB Q03468/L987P COFS1 Q03468/P1042L CSB Q13216/A160T CSA Q13216/A160V CSA Q13216/W194C CSA Q13216/L202S CSA Q13216/A205P CSA Q13216/D266G CSA Q13216/W361C UVSS2 P50548/R65Q CRS4 P50548/R86C CRS4 Q96PL6/G35S Sc7 antigen Q96PL6/E47K Sc5 antigen Q96PL6/G57R Sc2 antigen Q96PL6/P60A Sc4 antigen Q96PL6/R81Q Sc6 antigen Q96PL6/DAQEGSVTLQI103CPRGKCHSADP Sc-3 allele O95718/A110V DFNB35 O95718/L320P DFNB35 O95718/V342L DFNB35 O95718/L347P DFNB35 O95718/T389M DFNB35 Q56NI9/W539G RBS B1AK53/S719R DFNB36 B1AK53/D744N DFNB36 B1AK53/R774Q DFNB36 P03372/V364E ESTRR P03372/Q375H ESTRR P13804/G116R GA2A P13804/V157G GA2A P13804/T266M GA2A P38117/D128N GA2B P38117/R164Q GA2B O95571/Y38C EE O95571/L55P EE O95571/T136A EE O95571/T152I EE O95571/R163Q EE O95571/R163W EE O95571/T164K EE O95571/L185R EE O95571/D196N EE P57679/S206N EVC P57679/S307P WAD P57679/R443Q EVC P57679/L623P EVC Q9NQT5/G31A PCH1B Q9NQT5/D132A PCH1B Q9NQT5/A139P PCH1B Q9NQT5/W238R PCH1B Q16394/Q27K EXT1 Q16394/D164H EXT1 Q16394/R280G EXT1 Q16394/R280S EXT1 Q16394/G339D EXT1 Q16394/R340C EXT1 Q16394/R340H EXT1 Q16394/R340L EXT1 Q16394/R340S EXT1 Q16394/A486V EXT1 Q16394/P496L EXT1 Q93063/C85R EXT2 Q93063/L152R EXT2 Q93063/R179S EXT2 Q93063/A202V EXT2 Q93063/R223P EXT2 Q93063/D227N EXT2 Q93063/I380T EXT2 Q99502/P95S BOR1 Q99502/G140S BOR1 Q99502/S242G BOS1 Q99502/E363K ASA Q99502/E363V BOR1 Q99502/G426S BOR1 Q99502/D429G BOR1 Q99502/R440Q BOR1 Q99502/S487P BOR1 Q99502/L505R BOR1 Q99502/L514P BOR1 Q99502/Y527C BOR1 Q99502/R547G ASA Q99502/M569T BOR1 Q99502/L583P BOR1 Q9H557/G618S RP25 Q9H557/N745S RP25 Q9H557/T1110S RP25 Q9H557/C1176R RP25 Q9H557/I1232F RP25 Q9H557/W1484R RP25 Q9H557/D1682Y RP25 Q9H557/E1747G RP25 Q9H557/L1869M RP25 Q9H557/G2017V RP25 Q9H557/C2139Y RP25 Q9H557/L2189P RP25 Q9H557/S2211L RP25 Q9H557/E2503K RP25 Q9H557/A2829T RP25 Q9H557/C2911Y RP25 Q9H557/G2928E RP25 Q9H557/Q2945E RP25 Q96FI6/P132S WVS Q96FI6/H689Y WVS Q96PZ2/T338A GCLEB Q96PZ2/Y511H KCS2 Q96PZ2/P527T GCLEB Q96PZ2/D528G GCLEB Q96PZ2/R569H KCS2 P00488/R682H FA13AD P05160/C450F FA13BD P09467/G164S FBPD P09467/A177D FBPD P09467/F194S FBPD P09467/P284R FBPD P00742/E47G FA10D P00742/G51V FA10D P00742/E54G FA10D P00742/E54K FA10D P00742/E72Q FA10D P00742/E91K FA10D P00742/E142K FA10D P00742/C149Y FA10D P00742/C151Y FA10D P00742/G289R FA10D P00742/E304K FA10D P00742/D322N FA10D P00742/R327W FA10D P00742/V338M FA10D P00742/E350K FA10D P00742/T358M FA10D P00742/G363S FA10D P00742/R366C FA10D P00742/S374P FA10D P00742/P383S FA10D P00742/C390F FA10D P00742/C404R FA10D P00742/G406S FA10D P00742/G420R FA10D P00742/K448N FA10D P03951/G32R FA11D P03951/D34H FA11D P03951/A43T FA11D P03951/C46F FA11D P03951/T51I FA11D P03951/T51P FA11D P03951/H53Q FA11D P03951/C56R FA11D P03951/A63V FA11D P03951/K101R FA11D P03951/C140Y FA11D P03951/Y151C FA11D P03951/D222Y FA11D P03951/R228Q FA11D P03951/F241L FA11D P03951/W246C FA11D P03951/R252T FA11D P03951/C255Y FA11D P03951/G263E FA11D P03951/S266N FA11D P03951/K270I FA11D P03951/S276C FA11D P03951/G277D FA11D P03951/F301L FA11D P03951/E315K FA11D P03951/L320P FA11D P03951/T322I FA11D P03951/R326C FA11D P03951/T331I FA11D P03951/E341K FA11D P03951/L360P FA11D P03951/W401R FA11D P03951/V403M FA11D P03951/T404N FA11D P03951/G418V FA11D P03951/A430V FA11D P03951/I454K FA11D P03951/F460V FA11D P03951/I481S FA11D P03951/T493I FA11D P03951/S503P FA11D P03951/D506G FA11D P03951/Y511H FA11D P03951/C514F FA11D P03951/D526E FA11D P03951/P538L FA11D P03951/E565K FA11D P03951/S575L FA11D P03951/W587S FA11D P03951/S594R FA11D P03951/E597K FA11D P03951/Y608H FA11D P03951/I618S FA11D P00748/Y53C FA12D P00748/R142P FA12D P00748/T328K HAE3 P00748/T328R HAE3 P00748/R372P FA12D P00748/A411T FA12D P00748/L414M FA12D P00748/R417Q FA12D P00748/Q440K FA12D P00748/D461N FA12D P00748/W505C FA12D P00748/G589R FA12D P00748/C590S FA12D Q96MK3/DYSQDEKALLGACDCTQI197V AIGFS Q7L5A8/D35Y SPG35 Q7L5A8/R154C SPG35 Q7L5A8/R235C SPG35 P12259/R334G Hong Kong P12259/R334T THPH2 P12259/I387T THPH2 P12259/R534Q Leiden P12259/C613R THPH2 P12259/Y1730C FA5D P12259/R2102C FA5D P12259/R2102H THPH2 P08709/L13P FA7D P08709/R59RR FA7D P08709/F64L FA7D P08709/L73Q FA7D P08709/E79Q FA7D P08709/C82F FA7D P08709/C82R FA7D P08709/E85K FA7D P08709/R88G FA7D P08709/R88P FA7D P08709/N117D FA7D P08709/S120P FA7D P08709/C121F FA7D P08709/L125P FA7D P08709/Y128C FA7D P08709/G138D FA7D P08709/R139K FA7D P08709/R139Q FA7D P08709/R139W FA7D P08709/C151S FA7D P08709/E154K FA7D P08709/G156S FA7D P08709/G157C FA7D P08709/G157S FA7D P08709/G157V FA7D P08709/Q160R FA7D P08709/S171F FA7D P08709/G177R FA7D P08709/L181P FA7D P08709/D183N FA7D P08709/S186F FA7D P08709/P189S FA7D P08709/P194L FA7D P08709/P194T FA7D P08709/C195R FA7D P08709/K197E FA7D P08709/I198T FA7D P08709/R212Q FA7D P08709/G216D FA7D P08709/C238Y FA7D P08709/G240R FA7D P08709/T241N FA7D P08709/S250F FA7D P08709/A251P FA7D P08709/A251T FA7D P08709/C254R FA7D P08709/C254Y FA7D P08709/L264P FA7D P08709/A266T FA7D P08709/D272N FA7D P08709/D277N FA7D P08709/R283W FA7D P08709/T298I FA7D P08709/H301Q FA7D P08709/D302H FA7D P08709/D302N FA7D P08709/A304T FA7D P08709/A304V FA7D P08709/R307C FA7D P08709/R307H FA7D P08709/V312M FA7D P08709/L314V FA7D P08709/L321F FA7D P08709/L323R FA7D P08709/E325K FA7D P08709/R326Q FA7D P08709/T332M FA7D P08709/R337C FA7D P08709/V341F FA7D P08709/G343S FA7D P08709/W344R FA7D P08709/G345S FA7D P08709/R350C FA7D P08709/A354V FA7D P08709/M358I FA7D P08709/M358V FA7D P08709/L360P FA7D P08709/P363H FA7D P08709/P363R FA7D P08709/R364Q FA7D P08709/R364W FA7D P08709/C370F FA7D P08709/R375W FA7D P08709/T384M FA7D P08709/M387T FA7D P08709/M387V FA7D P08709/F388S FA7D P08709/C389G FA7D P08709/G391C FA7D P08709/G391S FA7D P08709/D398E FA7D P08709/K401E FA7D P08709/G402E FA7D P08709/G402R FA7D P08709/D403H FA7D P08709/S404N FA7D P08709/H408Q FA7D P08709/H408R FA7D P08709/R413G FA7D P08709/G414C FA7D P08709/T419M FA7D P08709/V422F FA7D P08709/G425A FA7D P08709/G425C FA7D P08709/A429T FA7D P08709/G432D FA7D P08709/G435E FA7D P08709/Y437F FA7D P00451/S19R HEMA P00451/R22T HEMA P00451/Y24C HEMA P00451/Y25C HEMA P00451/L26P HEMA P00451/L26R HEMA P00451/E30V HEMA P00451/W33G HEMA P00451/Y35C HEMA P00451/Y35H HEMA P00451/G41C HEMA P00451/R48C HEMA P00451/R48K HEMA P00451/K67E HEMA P00451/K67N HEMA P00451/L69P HEMA P00451/E72K HEMA P00451/D75E HEMA P00451/D75Y HEMA P00451/P83R HEMA P00451/G89D HEMA P00451/G89V HEMA P00451/G92A HEMA P00451/G92V HEMA P00451/A97P HEMA P00451/E98K HEMA P00451/V99D HEMA P00451/D101G HEMA P00451/D101H HEMA P00451/D101V HEMA P00451/V104D HEMA P00451/K108T HEMA P00451/M110V HEMA P00451/A111T HEMA P00451/A111V HEMA P00451/H113R HEMA P00451/H113Y HEMA P00451/L117F HEMA P00451/L117R HEMA P00451/G121S HEMA P00451/E129V HEMA P00451/G130R HEMA P00451/E132D HEMA P00451/Y133C HEMA P00451/D135G HEMA P00451/D135Y HEMA P00451/T137A HEMA P00451/T137I HEMA P00451/S138R HEMA P00451/E141K HEMA P00451/D145H HEMA P00451/V147D HEMA P00451/Y155H HEMA P00451/V159A HEMA P00451/N163K HEMA P00451/G164D HEMA P00451/G164V HEMA P00451/P165S HEMA P00451/C172W HEMA P00451/S176P HEMA P00451/S179P HEMA P00451/V181E HEMA P00451/V181M HEMA P00451/K185T HEMA P00451/D186G HEMA P00451/D186N HEMA P00451/D186Y HEMA P00451/S189L HEMA P00451/L191F HEMA P00451/G193R HEMA P00451/L195P HEMA P00451/C198G HEMA P00451/S202N HEMA P00451/S202R HEMA P00451/F214V HEMA P00451/L217H HEMA P00451/A219D HEMA P00451/A219T HEMA P00451/V220G HEMA P00451/D222V HEMA P00451/E223K HEMA P00451/G224W HEMA P00451/T252I HEMA P00451/V253F HEMA P00451/N254I HEMA P00451/G255V HEMA P00451/L261P HEMA P00451/P262L HEMA P00451/G263S HEMA P00451/G266E HEMA P00451/C267Y HEMA P00451/W274C HEMA P00451/H275L HEMA P00451/G278R HEMA P00451/G280D HEMA P00451/E284K HEMA P00451/V285G HEMA P00451/E291G HEMA P00451/E291K HEMA P00451/T294I HEMA P00451/F295L HEMA P00451/V297A HEMA P00451/N299I HEMA P00451/R301C HEMA P00451/R301H HEMA P00451/R301L HEMA P00451/A303E HEMA P00451/A303P HEMA P00451/I307S HEMA P00451/S308L HEMA P00451/F312S HEMA P00451/T314A HEMA P00451/T314I HEMA P00451/A315V HEMA P00451/G323E HEMA P00451/L326P HEMA P00451/L327P HEMA P00451/L327V HEMA P00451/C329F HEMA P00451/I331V HEMA P00451/M339T HEMA P00451/E340K HEMA P00451/V345A HEMA P00451/V345L HEMA P00451/C348R HEMA P00451/C348S HEMA P00451/C348Y HEMA P00451/Y365C HEMA P00451/R391C HEMA P00451/R391H HEMA P00451/R391P HEMA P00451/S392L HEMA P00451/S392P HEMA P00451/A394S HEMA P00451/W401G HEMA P00451/I405F HEMA P00451/I405S HEMA P00451/E409G HEMA P00451/W412G HEMA P00451/W412R HEMA P00451/K427I HEMA P00451/L431F HEMA P00451/L431S HEMA P00451/R437P HEMA P00451/R437W HEMA P00451/I438F HEMA P00451/G439D HEMA P00451/G439S HEMA P00451/G439V HEMA P00451/Y442C HEMA P00451/K444R HEMA P00451/Y450D HEMA P00451/Y450N HEMA P00451/T454I HEMA P00451/F455C HEMA P00451/G466E HEMA P00451/P470L HEMA P00451/P470R HEMA P00451/P470T HEMA P00451/G474E HEMA P00451/G474R HEMA P00451/G474V HEMA P00451/E475K HEMA P00451/G477V HEMA P00451/D478N HEMA P00451/T479R HEMA P00451/F484C HEMA P00451/A488G HEMA P00451/R490G HEMA P00451/Y492C HEMA P00451/Y492H HEMA P00451/I494T HEMA P00451/P496R HEMA P00451/G498R HEMA P00451/R503H HEMA P00451/G513S HEMA P00451/G513V HEMA P00451/I522Y HEMA P00451/K529E HEMA P00451/W532G HEMA P00451/P540T HEMA P00451/T541S HEMA P00451/D544N HEMA P00451/R546W HEMA P00451/R550C HEMA P00451/R550G HEMA P00451/R550H HEMA P00451/S553P HEMA P00451/S554C HEMA P00451/S554G HEMA P00451/V556D HEMA P00451/R560T HEMA P00451/D561G HEMA P00451/D561H HEMA P00451/D561Y HEMA P00451/I567T HEMA P00451/P569R HEMA P00451/S577F HEMA P00451/V578A HEMA P00451/D579A HEMA P00451/D579H HEMA P00451/N583S HEMA P00451/Q584H HEMA P00451/Q584K HEMA P00451/Q584R HEMA P00451/I585R HEMA P00451/I585T HEMA P00451/M586V HEMA P00451/D588G HEMA P00451/D588Y HEMA P00451/L594Q HEMA P00451/S596P HEMA P00451/N601D HEMA P00451/N601K HEMA P00451/R602G HEMA P00451/S603I HEMA P00451/S603R HEMA P00451/W604C HEMA P00451/Y605H HEMA P00451/Y605S HEMA P00451/N609I HEMA P00451/R612C HEMA P00451/N631K HEMA P00451/N631S HEMA P00451/M633I HEMA P00451/S635N HEMA P00451/N637D HEMA P00451/N637I HEMA P00451/N637S HEMA P00451/Y639C HEMA P00451/L644V HEMA P00451/L650F HEMA P00451/V653A HEMA P00451/V653M HEMA P00451/L659P HEMA P00451/A663V HEMA P00451/Q664P HEMA P00451/F677L HEMA P00451/M681I HEMA P00451/V682F HEMA P00451/Y683C HEMA P00451/Y683N HEMA P00451/T686R HEMA P00451/F698L HEMA P00451/M699T HEMA P00451/M699V HEMA P00451/M701I HEMA P00451/G705V HEMA P00451/G710W HEMA P00451/N713I HEMA P00451/R717L HEMA P00451/R717W HEMA P00451/G720D HEMA P00451/G720S HEMA P00451/M721I HEMA P00451/M721L HEMA P00451/A723T HEMA P00451/L725Q HEMA P00451/V727F HEMA P00451/E739K HEMA P00451/Y742C HEMA P00451/P947R HEMA P00451/V1012L HEMA P00451/E1057K HEMA P00451/H1066Y HEMA P00451/Q1336K HEMA P00451/N1460K HEMA P00451/A1610S HEMA P00451/I1698T HEMA P00451/Y1699C HEMA P00451/Y1699F HEMA P00451/E1701K HEMA P00451/Q1705H HEMA P00451/R1708C HEMA P00451/R1708H HEMA P00451/T1714S HEMA P00451/R1715G HEMA P00451/A1720V HEMA P00451/E1723K HEMA P00451/D1727V HEMA P00451/Y1728C HEMA P00451/R1740G HEMA P00451/K1751Q HEMA P00451/F1762L HEMA P00451/R1768H HEMA P00451/G1769R HEMA P00451/L1771P HEMA P00451/L1775F HEMA P00451/L1775V HEMA P00451/L1777P HEMA P00451/G1779E HEMA P00451/G1779R HEMA P00451/P1780L HEMA P00451/I1782R HEMA P00451/D1788H HEMA P00451/M1791T HEMA P00451/A1798P HEMA P00451/S1799H HEMA P00451/R1800C HEMA P00451/R1800G HEMA P00451/R1800H HEMA P00451/P1801A HEMA P00451/Y1802C HEMA P00451/S1803Y HEMA P00451/F1804S HEMA P00451/L1808F HEMA P00451/M1842I HEMA P00451/P1844S HEMA P00451/T1845P HEMA P00451/E1848G HEMA P00451/A1853T HEMA P00451/A1853V HEMA P00451/S1858C HEMA P00451/K1864E HEMA P00451/D1865N HEMA P00451/D1865Y HEMA P00451/H1867P HEMA P00451/H1867R HEMA P00451/G1869D HEMA P00451/G1869V HEMA P00451/G1872E HEMA P00451/P1873R HEMA P00451/L1875P HEMA P00451/V1876L HEMA P00451/C1877R HEMA P00451/C1877Y HEMA P00451/L1882P HEMA P00451/R1888I HEMA P00451/E1894G HEMA P00451/I1901F HEMA P00451/E1904D HEMA P00451/E1904K HEMA P00451/S1907C HEMA P00451/S1907R HEMA P00451/W1908L HEMA P00451/Y1909C HEMA P00451/A1939T HEMA P00451/A1939V HEMA P00451/N1941D HEMA P00451/N1941S HEMA P00451/G1942A HEMA P00451/M1945V HEMA P00451/L1951F HEMA P00451/R1960L HEMA P00451/R1960Q HEMA P00451/L1963P HEMA P00451/S1965I HEMA P00451/M1966I HEMA P00451/M1966V HEMA P00451/G1967D HEMA P00451/S1968R HEMA P00451/N1971T HEMA P00451/H1973L HEMA P00451/G1979V HEMA P00451/H1980P HEMA P00451/H1980Y HEMA P00451/F1982I HEMA P00451/R1985Q HEMA P00451/L1994P HEMA P00451/Y1998C HEMA P00451/G2000A HEMA P00451/T2004R HEMA P00451/M2007I HEMA P00451/G2013R HEMA P00451/W2015C HEMA P00451/R2016P HEMA P00451/R2016W HEMA P00451/E2018G HEMA P00451/G2022D HEMA P00451/G2028R HEMA P00451/S2030N HEMA P00451/V2035A HEMA P00451/Y2036C HEMA P00451/N2038S HEMA P00451/C2040Y HEMA P00451/G2045E HEMA P00451/G2045V HEMA P00451/I2051S HEMA P00451/I2056N HEMA P00451/A2058P HEMA P00451/W2065R HEMA P00451/P2067L HEMA P00451/A2070V HEMA P00451/S2082N HEMA P00451/S2088F HEMA P00451/D2093G HEMA P00451/D2093Y HEMA P00451/H2101D HEMA P00451/T2105N HEMA P00451/Q2106E HEMA P00451/Q2106P HEMA P00451/Q2106R HEMA P00451/G2107S HEMA P00451/R2109C HEMA P00451/I2117F HEMA P00451/I2117S HEMA P00451/Q2119R HEMA P00451/F2120C HEMA P00451/F2120L HEMA P00451/Y2124C HEMA P00451/R2135P HEMA P00451/S2138Y HEMA P00451/T2141N HEMA P00451/M2143V HEMA P00451/F2145C HEMA P00451/N2148S HEMA P00451/N2157D HEMA P00451/P2162L HEMA P00451/R2169C HEMA P00451/R2169H HEMA P00451/P2172L HEMA P00451/P2172Q HEMA P00451/P2172R HEMA P00451/T2173A HEMA P00451/T2173I HEMA P00451/H2174D HEMA P00451/R2178C HEMA P00451/R2178H HEMA P00451/R2178L HEMA P00451/R2182C HEMA P00451/R2182H HEMA P00451/R2182P HEMA P00451/M2183R HEMA P00451/M2183V HEMA P00451/L2185S HEMA P00451/L2185W HEMA P00451/S2192I HEMA P00451/C2193G HEMA P00451/P2196R HEMA P00451/G2198V HEMA P00451/E2200D HEMA P00451/I2204T HEMA P00451/I2209N HEMA P00451/A2211P HEMA P00451/A2220P HEMA P00451/P2224L HEMA P00451/R2228G HEMA P00451/R2228L HEMA P00451/R2228P HEMA P00451/R2228Q HEMA P00451/L2229F HEMA P00451/W2248C HEMA P00451/W2248S HEMA P00451/V2251A HEMA P00451/V2251E HEMA P00451/V2262VQ HEMA P00451/T2264A HEMA P00451/Q2265R HEMA P00451/F2279C HEMA P00451/F2279I HEMA P00451/I2281T HEMA P00451/D2286G HEMA P00451/W2290L HEMA P00451/G2304V HEMA P00451/D2307A HEMA P00451/P2319L HEMA P00451/P2319S HEMA P00451/R2323C HEMA P00451/R2323G HEMA P00451/R2323H HEMA P00451/R2323L HEMA P00451/R2326G HEMA P00451/R2326L HEMA P00451/R2326P HEMA P00451/R2326Q HEMA P00451/Q2330P HEMA P00451/W2332R HEMA P00451/I2336F HEMA P00451/R2339T HEMA P00451/G2344C HEMA P00451/G2344D HEMA P00451/G2344S HEMA P00451/C2345S HEMA P00451/C2345Y HEMA P00740/I17N HEMB P00740/C28R HEMB P00740/C28Y HEMB P00740/V30I HEMB P00740/R43L HEMB P00740/R43Q HEMB P00740/R43W HEMB P00740/K45N HEMB P00740/R46S HEMB P00740/R46T HEMB P00740/N48I HEMB P00740/S49P HEMB P00740/L52S HEMB P00740/E53A HEMB P00740/E54G HEMB P00740/F55C HEMB P00740/G58A HEMB P00740/G58R HEMB P00740/E66V HEMB P00740/E67K HEMB P00740/F71S HEMB P00740/E73K HEMB P00740/E73V HEMB P00740/R75Q HEMB P00740/E79D HEMB P00740/T84R HEMB P00740/Y91C HEMB P00740/D93G HEMB P00740/Q96P HEMB P00740/C97S HEMB P00740/P101R HEMB P00740/C102R HEMB P00740/G106D HEMB P00740/G106S HEMB P00740/C108S HEMB P00740/D110N HEMB P00740/I112S HEMB P00740/N113K HEMB P00740/Y115C HEMB P00740/C119F HEMB P00740/C119R HEMB P00740/E124K HEMB P00740/G125E HEMB P00740/G125R HEMB P00740/G125V HEMB P00740/C134Y HEMB P00740/I136T HEMB P00740/G139D HEMB P00740/G139S HEMB P00740/C155F HEMB P00740/G160E HEMB P00740/Q167H HEMB P00740/S169C HEMB P00740/C170F HEMB P00740/C178R HEMB P00740/C178W HEMB P00740/R191C HEMB P00740/R191H HEMB P00740/R226G HEMB P00740/R226Q HEMB P00740/R226W HEMB P00740/V227D HEMB P00740/V227F HEMB P00740/V228F HEMB P00740/V228L HEMB P00740/Q241H HEMB P00740/Q241K HEMB P00740/C252S HEMB P00740/C252Y HEMB P00740/G253E HEMB P00740/G253R HEMB P00740/A265T HEMB P00740/C268W HEMB P00740/A279T HEMB P00740/N283D HEMB P00740/E291V HEMB P00740/R294G HEMB P00740/R294Q HEMB P00740/H302R HEMB P00740/N306S HEMB P00740/I316F HEMB P00740/L318R HEMB P00740/L321Q HEMB P00740/P333H HEMB P00740/P333T HEMB P00740/T342K HEMB P00740/T342M HEMB P00740/I344L HEMB P00740/G351D HEMB P00740/W356C HEMB P00740/G357E HEMB P00740/G357R HEMB P00740/K362E HEMB P00740/G363W HEMB P00740/A366D HEMB P00740/R379G HEMB P00740/R379Q HEMB P00740/C382Y HEMB P00740/L383F HEMB P00740/L383I HEMB P00740/R384L THPH8 P00740/K387E HEMB P00740/I390F HEMB P00740/M394K HEMB P00740/F395I HEMB P00740/F395L HEMB P00740/C396F HEMB P00740/C396S HEMB P00740/A397P HEMB P00740/R404T HEMB P00740/C407R HEMB P00740/C407S HEMB P00740/D410H HEMB P00740/S411G HEMB P00740/S411I HEMB P00740/G412E HEMB P00740/G413R HEMB P00740/P414T HEMB P00740/V419E HEMB P00740/F424V HEMB P00740/T426P HEMB P00740/S430T HEMB P00740/W431G HEMB P00740/W431R HEMB P00740/G432S HEMB P00740/G432V HEMB P00740/E433A HEMB P00740/E433K HEMB P00740/C435Y HEMB P00740/A436V HEMB P00740/G442E HEMB P00740/G442R HEMB P00740/I443T HEMB P00740/T445TIYT HEMB P00740/R449Q HEMB P00740/R449W HEMB P00740/Y450C HEMB P00740/W453R HEMB P00740/I454T HEMB P16930/N16I TYRO1 P16930/A35T TYRO1 P16930/F62C TYRO1 P16930/Q64H TYRO1 P16930/A134D TYRO1 P16930/G158D TYRO1 P16930/V166G TYRO1 P16930/C193R TYRO1 P16930/G207D TYRO1 P16930/D233V TYRO1 P16930/W234G TYRO1 P16930/P249T TYRO1 P16930/P261L TYRO1 P16930/Q279R TYRO1 P16930/T294P TYRO1 P16930/G337S TYRO1 P16930/R341W TYRO1 P16930/P342L TYRO1 P16930/G369V TYRO1 P16930/R381G TYRO1 P16930/F405H TYRO1 P12104/A55T 29% of the population Q9BXW9/S126G FANCD2 Q9BXW9/R302W FANCD2 Q9BXW9/R1236H FANCD2 O75844/P248L MADB O75844/N265S MADB O75844/W340R MADB Q13158/C105W IEHDCM Q9Y2M0/C871R KMIN Q9Y2M0/Q929P KMIN Q9Y2M0/G937D KMIN Q9Y2M0/D960N KMIN Q9UEL9/N8K FA Q9UEL9/A181V FA Q9UEL9/L210R FA Q9UEL9/L244F FA Q9UEL9/D252G FA Q9UEL9/R435C FA Q9UEL9/H492R FA Q9UEL9/D598N FA Q9UEL9/L660P FA Q9UEL9/L817P FA Q9UEL9/Y843D FA Q9UEL9/L845P FA Q9UEL9/S858R FA Q9UEL9/Q869P FA Q9UEL9/R1055L FA Q9UEL9/R1055W FA Q9UEL9/L1082P FA Q9UEL9/S1088F FA Q9UEL9/H1110P FA Q9UEL9/R1117G FA Q9UEL9/Q1128E FA Q9UEL9/T1131A FA Q9UEL9/L1249P FA Q9UEL9/F1262L FA Q9UEL9/W1302R FA Q9UEL9/P1324L FA Q9UEL9/A1346T FA Q9UEL9/D1359Y FA Q9UEL9/M1360I FA Q9UEL9/R1400H FA Q9UEL9/H1417D FA Q00597/D195V FA Q00597/L496R FA Q00597/L554P FA Q9HB96/P184Q FA O15287/L71P FANCG Q9NVI1/P55L FA Q9NVI1/H858Y FA Q9NVI1/R1285Q FA/FANCI Q9BX63/P47A BC Q9BX63/Q255H FANCJ Q9BX63/M299I BC Q9BX63/A349P FANCJ Q9BX63/W647C FANCJ Q9BX63/R707C FANCJ Q12805/R345W DHRD O95967/E57K ARCL1B O95967/C267Y ARCL1B O95967/R279C ARCL1B Q9UBX5/V60L ARMD3 Q9UBX5/R71Q ARMD3 Q9UBX5/P87S ARMD3 Q9UBX5/I169T ARMD3 Q9UBX5/S227P ARCL1A Q9UBX5/R351W ARMD3 Q9UBX5/A363T ARMD3 Q9UBX5/G412E ARMD3 P35555/Y20C MFS P35555/R62C MFS P35555/C80G MFS P35555/C89F MFS P35555/C111R MFS P35555/R114C MFS P35555/S115C ECTOL1 P35555/R122C MFS P35555/C123Y MFS P35555/C129Y MFS P35555/C154S MFS P35555/C166F MFS P35555/C166S MFS P35555/C177R MFS P35555/W217G MFS P35555/C224R MFS P35555/R240C MFS and ECTOL1 P35555/W366C MFS P35555/R439G MFS P35555/C476G MFS P35555/D490Y MFS P35555/C499Y MFS P35555/C504F MFS P35555/C541Y MFS P35555/R545C MFS P35555/N548I MFS P35555/G560S MFS P35555/C570Y MFS P35555/C587Y MFS P35555/G592D MFS P35555/C596Y MFS P35555/C598W MFS P35555/C611R MFS P35555/C617G MFS P35555/R627C MFS P35555/C628K MFS P35555/Y635C MFS P35555/R636I MFS P35555/C652S MFS P35555/D654N MFS P35555/C661R MFS P35555/C661Y ECTOL1 P35555/S681Y MFS P35555/C683R MFS P35555/C685W MFS P35555/C685Y MFS P35555/A705T MFS P35555/C711Y MFS P35555/D723A MFS P35555/D723V MFS P35555/C734F MFS P35555/Y746C MFS P35555/C748Y MFS P35555/C750G MFS P35555/C776G MFS P35555/C776Y MFS P35555/C781R MFS P35555/C781Y MFS P35555/C790Y MFS P35555/C811Y MFS P35555/C816S MFS P35555/C832Y MFS P35555/C853S MFS P35555/C862R MFS P35555/C890G MFS P35555/C890R MFS P35555/C908R MFS P35555/E913G MFS P35555/C921G MFS P35555/C926R MFS P35555/C926Y MFS P35555/V984I MFS P35555/G985E MFS P35555/G985R MFS P35555/C996R MFS P35555/G1013R MFS P35555/K1023N MFS P35555/K1043R MFS P35555/C1044Y MFS P35555/I1048T MFS P35555/C1053R MFS P35555/C1055G MFS P35555/C1055W MFS P35555/C1055Y MFS P35555/G1058D MFS P35555/G1058GC MFS P35555/C1068G MFS P35555/D1072G MFS P35555/E1073K MFS P35555/C1074R MFS P35555/C1086W MFS P35555/P1090S MFS P35555/Y1101C MFS P35555/D1113V MFS P35555/C1117G MFS P35555/C1117Y MFS P35555/C1129Y MFS P35555/N1131Y MFS P35555/R1137P MFS P35555/C1153S MFS P35555/C1153Y MFS P35555/D1155N MFS P35555/R1170H MFS P35555/C1171W MFS P35555/N1173K MFS P35555/G1185D MFS P35555/E1200G MFS P35555/Y1219C MFS P35555/C1223Y MFS and SGS P35555/C1242Y MFS P35555/C1249S MFS P35555/Y1261C MFS P35555/Y1261D MFS P35555/C1265R MFS P35555/C1278S MFS P35555/C1284G MFS P35555/C1284Y MFS P35555/E1325Q MFS P35555/C1333S MFS P35555/A1337P MFS P35555/C1339Y MFS P35555/C1350F MFS P35555/E1366K MFS P35555/C1374S MFS P35555/N1382S MFS P35555/C1389R MFS P35555/T1401A MFS P35555/C1402R MFS P35555/D1404Y MFS P35555/P1424A MFS P35555/P1424S MFS P35555/C1429S MFS P35555/C1431W MFS P35555/C1431Y MFS P35555/G1475E MFS P35555/G1475S MFS P35555/D1487A MFS P35555/N1489K MFS P35555/C1513R MFS P35555/C1564F MFS P35555/C1564S SSKS P35555/C1564Y MFS P35555/W1570C SSKS P35555/M1576T MFS P35555/C1577G SSKS P35555/C1589F MFS P35555/G1594D SSKS P35555/C1610G MFS P35555/C1631G MFS P35555/C1663R MFS P35555/C1663Y MFS P35555/Y1696C GPHYSD2 P35555/Y1699C GPHYSD2 and ACMICD P35555/Y1699D GPHYSD2 P35555/Y1700C ACMICD P35555/C1706Y GPHYSD2 P35555/M1714R ACMICD P35555/C1719W GPHYSD2 P35555/S1722C ACMICD P35555/G1726V ACMICD P35555/A1728T GPHYSD2 and ACMICD P35555/A1728V GPHYSD2 P35555/C1733Y GPHYSD2 P35555/Q1735QQ ACMICD P35555/S1750R ACMICD P35555/D1758V ACMICD P35555/G1762S GPHYSD2 P35555/C1770F MFS P35555/R1790P MFS P35555/C1791R MFS P35555/C1791Y MFS P35555/C1793W MFS P35555/G1796E MFS P35555/C1806S MFS P35555/C1806Y MFS P35555/C1833S MFS P35555/C1835Y MFS P35555/P1837S MFS P35555/G1838C MFS P35555/C1876Y MFS P35555/T1887I MFS P35555/N1893K MFS P35555/C1895R MFS P35555/C1900Y MFS P35555/I1909T MFS P35555/R1915S MFS P35555/C1928G MFS P35555/C1928R MFS P35555/C1928Y MFS P35555/C1934S MFS P35555/C1971Y MFS P35555/E1976G MFS P35555/C1977Y MFS P35555/C1984R MFS P35555/C1998Y MFS P35555/C2038Y MFS P35555/C2085R MFS P35555/C2099W MFS P35555/C2111R MFS P35555/C2111Y MFS P35555/D2127E MFS P35555/C2142Y MFS P35555/N2144S MFS P35555/C2151W MFS P35555/P2154R ECTOL1 P35555/A2160P MFS P35555/D2166N MFS P35555/I2185T MFS P35555/C2221F MFS P35555/C2221G MFS P35555/C2221S MFS P35555/N2223H MFS P35555/D2247G MFS P35555/C2251R MFS P35555/C2258R MFS P35555/I2269T MFS P35555/R2282W MFS P35555/C2307S MFS P35555/R2335W MFS P35555/C2339Y ECTOL1 P35555/A2385T MFS P35555/C2406Y MFS P35555/C2442S MFS P35555/C2442W MFS P35555/E2447K ECTOL1 P35555/Y2474C MFS P35555/C2489R MFS P35555/C2500R MFS P35555/C2500Y MFS P35555/C2511R MFS P35555/C2535W MFS P35555/G2536R MFS P35555/E2570K MFS P35555/C2571R MFS P35555/C2581F MFS P35555/I2585T MFS P35555/C2592S MFS P35555/C2605R MFS P35555/C2605Y MFS P35555/E2610K MFS P35555/G2618R MFS P35555/H2623P MFS P35555/N2624K MFS P35555/G2627R MFS P35555/Y2629C MFS P35555/C2646R MFS P35555/C2652G MFS P35555/C2663S MFS P35555/G2668C MFS P35555/R2680C MFS P35555/R2726W MFS P35556/E391K DA9 P35556/G754S DA9 P35556/G1057D DA9 P35556/N1091S DA9 P35556/I1093T DA9 P35556/D1115H DA9 P35556/S1122P DA9 P35556/C1142F DA9 P35556/C1142R DA9 P35556/Y1146C DA9 P35556/C1156F DA9 P35556/E1161K DA9 P35556/G1179C DA9 P35556/C1198Y DA9 P35556/C1240R DA9 P35556/C1246F DA9 P35556/C1253W DA9 P35556/C1253Y DA9 P35556/C1257W DA9 P35556/C1268R DA9 P35556/C1384F DA9 P35556/C1384Y DA9 P35556/D1408N DA9 P35556/C1425R DA9 P35556/C1434S DA9 Q9Y3I1/R378G PARK15 Q9BQL6/S400P KINDS Q9BQL6/W559R KINDS P98174/S205I AAS P98174/E380A AAS P98174/R443H AAS P98174/R522H AAS P98174/R610Q AAS Q96M96/M298T CMT4H O15520/C106F LADDS O15520/I156R LADDS Q92915/F145S SCA27 O60258/I108T HH20 O60258/R177H HH20 O60258/N187S HH20 Q9GZV9/S71G HC Q9GZV9/R176Q ADHR Q9GZV9/R179Q ADHR Q9GZV9/R179W ADHR P11487/L6P LAMM P11487/S156P LAMM P55075/H14N HH6 P55075/P26L HH6 P55075/F40L HH6 P55075/K89E HH6 P55075/R116G HH6 P55075/T218M HH6 P31371/S99N SYNS3 Q9UDF2/G48S HH2 Q9UDF2/R78C HH2 Q9UDF2/G97D HH2 Q9UDF2/Y99C HH2 Q9UDF2/C101F HH2 Q9UDF2/V102I HH2 Q9UDF2/N117S HH2 Q9UDF2/D129A HH2 Q9UDF2/A167S HH2 Q9UDF2/C178S HH2 Q9UDF2/D224H HH2 Q9UDF2/Y228D HH2 Q9UDF2/G237D HH2 Q9UDF2/G237S HH2 Q9UDF2/I239T HH2 Q9UDF2/L245P HH2 Q9UDF2/R250Q HH2 Q9UDF2/R250W HH2 Q9UDF2/P252R PS Q9UDF2/R254Q HH2 Q9UDF2/G270D HH2 Q9UDF2/V273M HH2 Q9UDF2/E274G HH2 Q9UDF2/C277Y HH2 Q9UDF2/P283R HH2 Q9UDF2/I300T TRIGNO1 Q9UDF2/N330I OGD Q9UDF2/S332C HH2 Q9UDF2/Y339C HH2 Q9UDF2/L342S HH2 Q9UDF2/A343V HH2 Q9UDF2/S346C HH2 Q9UDF2/G348R HH2 Q9UDF2/P366L HH2 Q9UDF2/Y374C OGD Q9UDF2/C381R OGD Q9UDF2/R470L HH2 Q9UDF2/P483T HH2 Q9UDF2/A520T HH2 Q9UDF2/I538V HH2 Q9UDF2/V607M HH2 Q9UDF2/K618N HH2 Q9UDF2/H621R HH2 Q9UDF2/R622G HH2 Q9UDF2/R622Q HH2 Q9UDF2/W666R HH2 Q9UDF2/E670K HH2 Q9UDF2/A671P HH2 Q9UDF2/S685F HH2 Q9UDF2/G687R HH2 Q9UDF2/E692G HH2 Q9UDF2/I693F HH2 Q9UDF2/G703R HH2 Q9UDF2/G703S HH2 Q9UDF2/M719R HH2 Q9UDF2/P722H HH2 Q9UDF2/P722S HH2 Q9UDF2/N724K HH2 Q9UDF2/P745S HH2 Q9UDF2/D768Y HH2 Q9UDF2/P772S HH2 Q9UDF2/V795I HH2 Q9UIH8/Y105C CS Q9UIH8/A172F PS Q9UIH8/SP252FS PS Q9UIH8/S252F APRS Q9UIH8/S252L CS Q9UIH8/S252W APRS and PS Q9UIH8/P253R APRS Q9UIH8/P263L CS Q9UIH8/S267P CS Q9UIH8/T268TG CS Q9UIH8/F276V CS Q9UIH8/C278F CS, JWS and PS Q9UIH8/C278Y CS Q9UIH8/Y281C CS Q9UIH8/I288S CS Q9UIH8/Q289P CS and JWS Q9UIH8/W290C PS Q9UIH8/W290G CS Q9UIH8/W290R CS Q9UIH8/K292E CS Q9UIH8/Y301C CS Q9UIH8/D321A PS Q9UIH8/Y328C CS Q9UIH8/N331I CS Q9UIH8/A337ANA CS Q9UIH8/A337P CS Q9UIH8/G338E CS Q9UIH8/G338R CS Q9UIH8/Y340C PS Q9UIH8/Y340H CS Q9UIH8/T341P PS and CS Q9UIH8/C342F CS Q9UIH8/C342G PS Q9UIH8/C342R CS, JWS, PS and ABS2 Q9UIH8/C342S CS, JWS, PS and ABS2 Q9UIH8/C342W CS Q9UIH8/C342Y CS and PS Q9UIH8/A344G CS and JWS Q9UIH8/A344P CS and PS Q9UIH8/S347C CS Q9UIH8/S351C CS, PS and ABS2 Q9UIH8/S354C CS Q9UIH8/S354Y CS Q9UIH8/V359F CS and PS Q9UIH8/A362S CS Q9UIH8/S372C BSTVS Q9UIH8/Y375C PS and BSTVS Q9UIH8/Y381D BBDS Q9UIH8/G384R CS Q9UIH8/M391R BBDS Q9UIH8/K526E FSPC Q9UIH8/N549H CS Q9UIH8/E565G PS Q9UIH8/A628T LADDS Q9UIH8/K641R PS Q9UIH8/A648T LADDS Q9UIH8/RD649S LADDS Q9UIH8/G663E PS Q9UIH8/R678G CS P22607/R248C KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1 P22607/S249C KERSEB, bladder cancer, cervical cancer and TD1 P22607/P250R MNKS P22607/G370C KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1 P22607/S371C KERSEB and TD1 P22607/Y373C KERSEB and TD1 P22607/G375C ACH P22607/A391E CAN P22607/D513N LADDS P22607/R621H CATSHL syndrome P22607/K650E KERSEB, TD2, TGCT and bladder cancer samples P22607/K650M KERSEB, ACH and TD1 Q6IB30/W122S SPM Q6IB30/H123Y RBM Q6IB30/T128TI XMPMA Q6IB30/C132F RBM Q6IB30/C153R RBM Q6IB30/C153Y RBM Q6IB30/C224W XMPMA P02671/D26N Lille-1 P02671/G31V Rouen-1 P02671/P37L Kyoto-2 P02671/R38G Aarhus-1 P02671/R38N Munich-1 P02671/R38S Detroit-1 P02671/V39D Canterbury P02671/R160S Lima P02671/S453N Caracas-2 P02671/E545V AMYL8 P02671/R573C Dusart/Paris-5 P02671/R573L AMYL8 P02675/R44C Christchurch-2, Seattle-1 and Ijmuiden P02675/G45R Ise P02675/R74C Nijmegen P02675/A98T Naples and Milano-2 P02675/A365T Pontoise-2 P02675/R478K Baltimore-2 Q9UC63/G191R Milano-12 Q9UC63/R301C Tochigi/Osaka-2/Milano-5/ Villajoyosa Q9UC63/R301H Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4 Q9UC63/G318V Baltimore-1 Q9UC63/N334I Baltimore-3 Q9UC63/N334K Kyoto-1 Q9UC63/G335D Hillsborough Q9UC63/M336T Asahi Q9UC63/Q355R Nagoya-1 Q9UC63/D356V Milano-1 Q9UC63/D356Y Kyoto-3 Q9UC63/N363K Bern-1 Q9UC63/G377VMCGEALPMLKDPCYS Paris-1 Q9UC63/S384C Milano-7 Q9UC63/R401G Osaka-5 Q92562/I41T CMT4J Q92562/D53Y ALS11 Q92562/G104D YVS Q92562/L175P YVS Q96KP7/Y973C GFND2 Q96KP7/W1834R GFND2 Q96KP7/L1883R GFND2 Q96AY3/E113K BRKS1 Q96AY3/R115Q BRKS1 Q96AY3/P136L BRKS1 Q9H9S5/R54W MDDGC5 Q9H9S5/V79M MDDGC5 Q9H9S5/A114G MDDGB5 Q9H9S5/R134W MDDGC5 Q9H9S5/R143S MDDGC5 Q9H9S5/V160F MDDGC5 Q9H9S5/Y182C MDDGC5 Q9H9S5/P217T MDDGB5 Q9H9S5/S221R MDDGB5 Q9H9S5/L276I MDDGC5 Q9H9S5/T293I MDDGC5 Q9H9S5/V300A MDDGC5 Q9H9S5/V300M MDDGC5 Q9H9S5/Y307N MDDGC5 and MDDGA5 Q9H9S5/Y309C MDDGB5 Q9H9S5/R312C MDDGC5 Q9H9S5/P315T MDDGB5 Q9H9S5/P316R MDDGB5 and MDDGC5 Q9H9S5/P316S MDDGC5 Q9H9S5/C318Y MDDGA5 Q9H9S5/Y328S MDDGB5 Q9H9S5/R339H MDDGB5 Q9H9S5/R339L MDDGC5 Q9H9S5/P358L MDDGC5 Q9H9S5/D360N MDDGC5 Q9H9S5/D401N MDDGB5 Q9H9S5/V405L MDDGB5 Q9H9S5/P448L MDDGB5 Q9H9S5/A455D MDDGB5 Q9H9S5/P462S MDDGC5 Q9H9S5/N463D MDDGB5 Q9H9S5/Y465S MDDGB5 O75072/A114T MDDGC4 O75072/A170E MDDGA4 O75072/F176S MDDGC4 O75072/R179T CMD1X O75072/R246G MDDGB4 O75072/C250G MDDGA4 O75072/R307Q MDDGB4 and MDDGC4 O75072/Q358P CMD1X O75072/Y371C MDDGA4 Q8NFG4/S108I BHD Q8NFG4/E132K PSP Q8NFG4/R239C RCC Q8NFG4/H429Y PSP Q8NFG4/K508R BHD P21333/A39G PVNH4 P21333/E82V PVNH1 P21333/M102V PVNH1 P21333/A128V PVNH4 P21333/S149F PVNH1 P21333/Q170P OPD2 P21333/L172F OPD1 P21333/R196G OPD2 P21333/R196W OPD1 P21333/A200S OPD2 P21333/D203Y OPD1 P21333/P207L OPD1 P21333/C210F OPD2 P21333/E254K OPD2 P21333/A273P OPD2 P21333/G288R CVDX P21333/V528M PVNH1 P21333/T555K OPD2 P21333/P637Q CVDX P21333/L656F PVNH1 P21333/V711D CVDX P21333/D1159A FMD P21333/D1184E MNS P21333/S1186L FMD P21333/A1188T MNS P21333/S1199L MNS P21333/P1291L FGS2 P21333/C1645F OPD2 P21333/G1728C FMD Q9UEV9/F161C LRS Q9UEV9/G168S LRS Q9UEV9/L171R BOOMD Q9UEV9/A173V AO1 Q9UEV9/S188P AO1 Q9UEV9/M202V AO1 and AO3 Q9UEV9/E227K LRS Q9UEV9/L234V LRS Q9UEV9/S235P BOOMD Q9UEV9/G361S LRS Q9UEV9/G363E LRS Q9UEV9/G751R AO3 Q9UEV9/L1431R LRS Q9UEV9/G1586R LRS Q9UEV9/V1592D LRS Q9UEV9/P1603L LRS Q9UEV9/G1691S LRS Q9UEV9/G1834R LRS Q14315/A193T MPD4 Q14315/M251T MPD4 Q9NZU0/Q69K HH21 Q9NZU0/E97G HH21 Q9NZU0/S144I HH21 Q9NZU0/K339R HH21 Q9Y5Y0/N121D PCARP Q9Y5Y0/C192R PCARP Q9Y5Y0/A241T PCARP Q9Y5Y0/G493R PCARP Q9UPI3/R84H PVHH Q9UPI3/NIF110I PVHH Q9UPI3/P280R PVHH Q9UPI3/A326V PVHH Q9UPI3/T352R PVHH Q9UPI3/L398V PVHH Q9UPI3/G412R PVHH Q9UPI3/T430M PVHH Q9UPI3/T430R PVHH P31513/E32K TMAU P31513/A52T TMAU P31513/N61S TMAU P31513/M66I TMAU P31513/P153L TMAU P31513/R387L TMAU P31513/M434I TMAU P31513/R492W TMAU Q06787/I304N FRAX Q96DP5/S125L COXPD15 Q96DP5/S209L COXPD15 Q8WW38/E30G TOF Q8WW38/S657G TOF Q9Y261/A328V Japanese subjects with maturity-onset diabetes of the young Q12948/P79L Rieger syndrome Q12948/P79R ARS Q12948/P79T ARS Q12948/S82T ARS Q12948/L86F ARS Q12948/I87M ARS Q12948/I91S ARS Q12948/I91T ARS Q12948/F112S IGDA and PAN Q12948/Y115S ARS Q12948/I126M ARS Q12948/R127H ARS Q12948/L130F RIEG3 Q12948/S131L ARS Q12948/G149D ARS Q12948/M161K ARS Q12948/M161V ARS Q12948/G165R ARS Q12948/R169P ARS Q99958/S125L LYD O00358/S57N BLS O00358/A65V BLS Q13461/R90L ASMD P55316/F215L RTTCV P55316/R244C RTTCV P58012/S58L BPES P58012/I63T BPES P58012/M65V BPES P58012/A66V BPES P58012/E69K BPES P58012/I80T BPES P58012/I84N BPES P58012/I84S BPES P58012/F90S BPES P58012/W98G BPES P58012/W98R BPES P58012/S101R BPES P58012/I102T BPES P58012/R103C BPES P58012/H104R BPES P58012/N105S BPES P58012/L106F BPES P58012/L106P BPES P58012/L108P BPES P58012/N109K BPES P58012/G187D POF3 P58012/K193R BPES P58012/Y215C BPES P58012/S217C BPES P58012/S217F BPES P58012/A234AAAAAA BPES P58012/A234AAAAAAAAAAA BPES P58012/A234AAAAAAAAAAAA BPES P58012/Y258N POF3 Q8N0W2/R553H SPCH1 Q9BZS1/I363V IPEX Q9BZS1/F371C IPEX Q9BZS1/A384T IPEX Q9BZS1/R397W IPEX Q16595/L106S FRDA Q16595/D122Y FRDA Q16595/G130V FRDA Q16595/I154F FRDA Q16595/W155R FRDA Q16595/R165C FRDA Q16595/L182F FRDA Q16595/L198R FRDA Q5H8C1/R498Q TRIGNO2 Q5H8C1/R649W BNAR Q5H8C1/L1324R MOTA Q5H8C1/G1440S BNAR Q5H8C1/E1500V TRIGNO2 Q5H8C1/V2091I MOTA Q5SZK8/E1972K FRASS Q9BTZ8/A96T NBIA3 Q6ZUT3/G24E NYS1 Q6ZUT3/G24R NYS1 Q6ZUT3/G24W NYS1 Q6ZUT3/L142R NYS1 Q6ZUT3/R146W NYS1 Q6ZUT3/N221D NYS1 Q6ZUT3/W225G NYS1 Q6ZUT3/A226T NYS1 Q6ZUT3/R229C NYS1 Q6ZUT3/R229G NYS1 Q6ZUT3/L231V NYS1 Q6ZUT3/R261G NYS1 Q6ZUT3/R261Q NYS1 Q6ZUT3/A266P NYS1 Q6ZUT3/C271F NYS1 Q6ZUT3/C271Y NYS1 Q6ZUT3/H275P NYS1 Q6ZUT3/G296R NYS1 Q6ZUT3/Y301C NYS1 Q6ZUT3/S340L NYS1 P01225/C69G IFSHD Q4ZFZ2/S128Y OHSS Q4ZFZ2/I160T ODG1 Q4ZFZ2/A189V ODG1 Q4ZFZ2/D224V ODG1 Q4ZFZ2/P348R ODG1 Q4ZFZ2/A419T ODG1 Q4ZFZ2/T449A OHSS Q4ZFZ2/T449I OHSS Q4ZFZ2/P519T ODG1 Q4ZFZ2/I545T OHSS Q4ZFZ2/D567G FSHR activation Q4ZFZ2/D567N OHSS Q4ZFZ2/R573C ODG1 Q4ZFZ2/L601V ODG1 O95954/R135C FIGLU-URIA O95954/R299P FIGLU-URIA Q68CZ1/Q550R JBTS7 Q68CZ1/T615P JBTS7 Q68CZ1/S659P COACHS Q68CZ1/A695P JBTS7 Q68CZ1/R1236C MKS5 Q9C0B1/R316Q GDFD P04066/G65D FUCA1D P04066/S68L FUCA1D P04066/L410R FUCA1D Q96A29/R147C CDG2C Q96A29/T308R CDG2C P07954/N107T HLRCC P07954/A117P HLRCC P07954/H180R HLRCC P07954/Q185R HLRCC P07954/K230R FHD and HLRCC P07954/R233H HLRCC P07954/G282V HLRCC P07954/A308T FHD P07954/F312C FHD P07954/M328R HLRCC P07954/D425V FHD P35637/G191S ALS6 P35637/R216C ALS6 and ETM4 P35637/G225V ALS6 P35637/G230C ALS6 P35637/R234C ALS6 P35637/R244C ALS6 P35637/P431L ETM4 P35637/G507D ALS6 P35637/R514G ALS6 P35637/R514S ALS6 P35637/G515C ALS6 P35637/R518K ALS6 P35637/R521C ALS6 P35637/R521G ALS6 P35637/R521H ALS6 P35637/R522G ALS6 P35637/R524S ALS6 P35637/R524T ALS6 P35637/P525L ALS6 P19526/Y154C Bombay H- P19526/W171C Bombay H- P19526/L242R Bombay H- P19526/V259E Bombay H- P19526/A315V Bombay H- P19526/W349C Bombay H- P21217/L20R Le(- P21217/W68R Le(- P21217/Q102K Le(+ P21217/T105M Le(- P21217/S124A Le(+ P21217/D162N Le(- P21217/G170S Le(- P21217/G223R Le(- P21217/V270M Le(- P21217/D336A Le(- P21217/I356K Le(- Q96CU9/N430S MT-C1D Q9BQS8/L1376P CTRCT18 Q9Y2I7/K1103R CFD Q9ULV1/P33S EVR1 Q9ULV1/G36D EVR1 Q9ULV1/E40Q EVR1 Q9ULV1/H69Y EVR1 Q9ULV1/M105T EVR1 Q9ULV1/M105V EVR1 Q9ULV1/I114T EVR1 Q9ULV1/M157V EVR1 Q9ULV1/C181R EVR1 Q9ULV1/C204R EVR1 Q9ULV1/C204Y EVR1 Q9ULV1/M223K EVR1 Q9ULV1/I256V EVR1 Q9ULV1/W335C EVR1 Q9ULV1/M342V EVR1 Q9ULV1/R417Q EVR1 Q9ULV1/T445P EVR1 Q9ULV1/G488D EVR1 Q9ULV1/S497F EVR1 Q9ULV1/G525R EVR1 O60353/R511C NDNC10 Q9BUM1/M116K SCN4 Q9BUM1/M116V DURSS Q9BUM1/L185P SCN4 Q9BUM1/R189Q SCN4 Q9BUM1/R253H SCN4 Q9BUM1/G260R SCN4 Q9BUM1/G262R SCN4 P35575/M5R GSD1A P35575/T16A GSD1A P35575/T16R GSD1A P35575/Q20R GSD1A P35575/D38V GSD1A P35575/Q54P GSD1A P35575/W63R GSD1A P35575/A65P GSD1A P35575/G68R GSD1A P35575/K76N GSD1A P35575/W77R GSD1A P35575/G81R GSD1A P35575/R83C GSD1A P35575/R83H GSD1A P35575/R83I GSD1A P35575/T108I GSD1A P35575/E110K GSD1A P35575/T111I GSD1A P35575/P113L GSD1A P35575/H119L GSD1A P35575/G122D GSD1A P35575/A124T GSD1A P35575/W156L GSD1A P35575/V166A GSD1A P35575/V166G GSD1A P35575/R170Q GSD1A P35575/F177C GSD1A P35575/P178A GSD1A P35575/P178S GSD1A P35575/H179P GSD1A P35575/G184E GSD1A P35575/G184V GSD1A P35575/G188D GSD1A P35575/G188R GSD1A P35575/G188S GSD1A P35575/Y209C GSD1A P35575/L211P GSD1A P35575/G222R GSD1A P35575/W236R GSD1A P35575/A241T GSD1A P35575/T255I GSD1A P35575/P257L GSD1A P35575/N264K GSD1A P35575/L265P GSD1A P35575/G266V GSD1A P35575/G270R GSD1A P35575/G270V GSD1A P35575/G270W GSD1A P35575/R295C GSD1A P35575/S298P GSD1A P35575/F322L GSD1A P35575/V338F GSD1A P35575/I341N GSD1A P35575/L345R GSD1A P11413/V12L Sinnai P11413/H32R CSNA P11413/A44G Orissa P11413/I48T Aures P11413/D58N Metaponto P11413/V68M A(- P11413/Y70H Namoru P11413/L75P Swansea P11413/R81C Konan/Ube P11413/R81H Lagosanto P11413/S106C Vancouver P11413/N126D A(+ P11413/L128P Vanua Lava P11413/G131V Chinese-4 P11413/E156K Ilesha P11413/G163D Plymouth P11413/G163S Mahidol P11413/N165D Chinese-3 P11413/R166H Naone P11413/D176G Shinshu P11413/D181V Santa Maria P11413/R182W Vancouver P11413/S188F Sassari/Cagliari P11413/R198C Coimbra P11413/R198P CNSHA P11413/M212V Sibari P11413/V213L Minnesota P11413/F216L Harilaou P11413/R227L A- type 2 P11413/R227Q Mexico City P11413/R257G Wayne P11413/E274K Corum P11413/S278F Wexham P11413/T279S Chinese-1 P11413/D282H Seattle P11413/R285H Montalbano P11413/V291M Viangchan/Jammu P11413/E317K Kalyan/Kerala P11413/Y322H Rehovot P11413/L323P A- type 3 P11413/A335T Chatham P11413/L342F Chinese-5 P11413/P353S Ierapetra P11413/N363K Loma Linda P11413/C385R Tomah P11413/K386E Iowa P11413/R387C CNSHA P11413/R387H Beverly Hills P11413/R393H Nashville/Anaheim P11413/V394L CNSHA P11413/P396L Bari P11413/E398K Puerto Limon P11413/G410C Riverside P11413/G410D CNSHA P11413/E416K Tokyo P11413/R439P CNSHA P11413/L440F Telti/Kobe P11413/G447R Santiago de Cuba P11413/Q449H Cassano P11413/R454C Chinese-II/Maewo/Union P11413/R454H Andalus P11413/R459L Canton P11413/R459P Cosenza P11413/R463H Kaiping P11413/G488V Campinas O95479/P146L CRD O95479/R453Q CRD P06744/T5I HA-GPID P06744/H20P HA-GPID P06744/R75G HA-GPID P06744/R83W HA-GPID P06744/V101M HA-GPID P06744/G159S HA-GPID P06744/T195I HA-GPID P06744/T224M HA-GPID P06744/R273H HA-GPID P06744/S278L HA-GPID P06744/A300P HA-GPID P06744/L339P HA-GPID P06744/Q343R HA-GPID P06744/R347C HA-GPID P06744/R347H HA-GPID P06744/T375R HA-GPID P06744/H389R HA-GPID P06744/R472H HA-GPID P06744/L487F HA-GPID P06744/E495K HA-GPID P06744/L517V HA-GPID P06744/I525T HA-GPID P06744/D539N HA-GPID O43826/G20D GSD1B O43826/Y24H GSD1B O43826/N27K GSD1B O43826/R28C GSD1B O43826/R28H GSD1B O43826/G50E GSD1B O43826/G50R GSD1B O43826/S54R GSD1B O43826/S55R GSD1B O43826/G68R GSD1B O43826/L85P GSD1B O43826/G88D GSD1B O43826/W118R GSD1B O43826/Q133P GSD1C O43826/A148V GSD1B O43826/G149E GSD1B O43826/G150R GSD1B O43826/P153L GSD1B O43826/C176R GSD1B O43826/C183R GSD1B O43826/P191L GSD1B O43826/L229P GSD1B O43826/W246R GSD1B O43826/I278N GSD1B O43826/R300C GSD1B O43826/R300H GSD1B O43826/H301P GSD1B O43826/G339C GSD1B O43826/G339D GSD1B O43826/A367T GSD1B O43826/A373D GSD1B O43826/G376S GSD1C P80404/R220K GABATD P54803/G41S GLD P54803/G59R GLD P54803/S68F GLD P54803/R79H GLD P54803/I82M GLD P54803/G111D GLD P54803/G111S GLD P54803/T112A GLD P54803/M117L GLD P54803/E130K GLD P54803/D187V GLD P54803/G194A GLD P54803/I250T GLD P54803/A263T GLD P54803/T278I GLD P54803/G284S GLD P54803/G286D GLD P54803/N295T GLD P54803/S303F GLD P54803/Y314C GLD P54803/P318A GLD P54803/P318R GLD P54803/G323R GLD P54803/Y335C GLD P54803/I384T GLD P54803/R396L GLD P54803/R396W GLD P54803/P400L GLD P54803/W426G GLD P54803/T468S GLD P54803/Y490N GLD P54803/F514S GLD P54803/T529M GLD P54803/R531C GLD P54803/R531H GLD P54803/D544N GLD P54803/G553R GLD P54803/V566G GLD P54803/Y567S GLD P54803/A592S GLD P54803/I599S GLD P54803/L634S GLD P54803/L645R GLD P54803/T668R GLD P54803/V681M GLD Q14376/A25V EDG Q14376/N34S EDG Q14376/R40C EDG Q14376/D69E EDG Q14376/G90E EDG Q14376/V94M EDG Q14376/D103G EDG Q14376/E165K EDG Q14376/R169W EDG Q14376/L183P EDG Q14376/R239W EDG Q14376/K257R EDG Q14376/G302D EDG Q14376/L313M EDG Q14376/G319E EDG Q14376/R335H EDG P51570/P28T GALCT2 P51570/V32M GALCT2 P51570/G36R GALCT2 P51570/H44Y GALCT2 P51570/R68C GALCT2 P51570/A198V GALCT2 P51570/R239Q GALCT2 P51570/T288M GALCT2 P51570/G346S GALCT2 P51570/G349S GALCT2 P51570/A384P GALCT2 P34059/L15M MPS4A P34059/G23R MPS4A P34059/L36P MPS4A P34059/M41L MPS4A P34059/G42E MPS4A P34059/G47R MPS4A P34059/S53F MPS4A P34059/D60N MPS4A P34059/R61W MPS4A P34059/F69V MPS4A P34059/NFYS71T MPS4A P34059/P77R MPS4A P34059/C79Y MPS4A P34059/S80L MPS4A P34059/R90W MPS4A P34059/R94C MPS4A P34059/R94G MPS4A P34059/R94L MPS4A P34059/G96C MPS4A P34059/G96V MPS4A P34059/F97V MPS4A P34059/A107T MPS4A P34059/Q111R MPS4A P34059/I113F MPS4A P34059/G116S MPS4A P34059/P125L MPS4A P34059/S135R MPS4A P34059/V138A MPS4A P34059/G139S MPS4A P34059/W141C MPS4A P34059/W141R MPS4A P34059/H150Y MPS4A P34059/P151L MPS4A P34059/P151S MPS4A P34059/G155E MPS4A P34059/G155R MPS4A P34059/F156C MPS4A P34059/F156S MPS4A P34059/S162F MPS4A P34059/N164T MPS4A P34059/H166Q MPS4A P34059/F167V MPS4A P34059/G168R MPS4A P34059/D171A MPS4A P34059/P179H MPS4A P34059/P179L MPS4A P34059/P179S MPS4A P34059/E185G MPS4A P34059/A203V MPS4A P34059/N204K MPS4A P34059/W230G MPS4A P34059/D233N MPS4A P34059/V239F MPS4A P34059/G247D MPS4A P34059/R253W MPS4A P34059/A257T MPS4A P34059/R259Q MPS4A P34059/E260D MPS4A P34059/F284V MPS4A P34059/S287L MPS4A P34059/G290S MPS4A P34059/A291D MPS4A P34059/A291T MPS4A P34059/S295F MPS4A P34059/G301C MPS4A P34059/L307P MPS4A P34059/G309R MPS4A P34059/K310N MPS4A P34059/T312S MPS4A P34059/M318R MPS4A P34059/W325C MPS4A P34059/G340D MPS4A P34059/S341R MPS4A P34059/M343R MPS4A P34059/D344E MPS4A P34059/D344N MPS4A P34059/L345P MPS4A P34059/F346L MPS4A P34059/A351V MPS4A P34059/L352P MPS4A P34059/P357L MPS4A P34059/R361G MPS4A P34059/L369P MPS4A P34059/R376Q MPS4A P34059/R380S MPS4A P34059/R380T MPS4A P34059/R386C MPS4A P34059/R386H MPS4A P34059/D388N MPS4A P34059/M391V MPS4A P34059/A392V MPS4A P34059/L395P MPS4A P34059/L395V MPS4A P34059/H398D MPS4A P34059/H401Y MPS4A P34059/N407H MPS4A P34059/W409S MPS4A P34059/E450V MPS4A P34059/F452I MPS4A P34059/S470P MPS4A P34059/P484S MPS4A P34059/N487S MPS4A P34059/M494V MPS4A Q53XK1/Q9H GALCT Q53XK1/T23A GALCT Q53XK1/D28H GALCT Q53XK1/D28Y GALCT Q53XK1/I32N GALCT Q53XK1/R33H GALCT Q53XK1/Y34N GALCT Q53XK1/Q38P GALCT Q53XK1/V44L GALCT Q53XK1/V44M GALCT Q53XK1/S45L GALCT Q53XK1/R51L GALCT Q53XK1/R51Q GALCT Q53XK1/G55C GALCT Q53XK1/R67C GALCT Q53XK1/L74P GALCT Q53XK1/A81T GALCT Q53XK1/Y89H GALCT Q53XK1/N97S GALCT Q53XK1/D98N GALCT Q53XK1/Q103R GALCT Q53XK1/S112R GALCT Q53XK1/D113N GALCT Q53XK1/H114L GALCT Q53XK1/F117S GALCT Q53XK1/Q118H GALCT Q53XK1/R123G GALCT Q53XK1/R123Q GALCT Q53XK1/V125A GALCT Q53XK1/K127E GALCT Q53XK1/M129T GALCT Q53XK1/C130Y GALCT Q53XK1/H132Q GALCT Q53XK1/H132Y GALCT Q53XK1/S135L GALCT Q53XK1/S135W GALCT Q53XK1/T138M GALCT Q53XK1/L139P GALCT Q53XK1/M142K GALCT Q53XK1/M142V GALCT Q53XK1/S143L GALCT Q53XK1/R148G GALCT Q53XK1/R148Q GALCT Q53XK1/R148W GALCT Q53XK1/V150L GALCT Q53XK1/V151A GALCT Q53XK1/W154G GALCT Q53XK1/P166A GALCT Q53XK1/W167R GALCT Q53XK1/V168L GALCT Q53XK1/I170T GALCT Q53XK1/F171S GALCT Q53XK1/G179D GALCT Q53XK1/S181A GALCT Q53XK1/S181F GALCT Q53XK1/P183T GALCT Q53XK1/H184Q GALCT Q53XK1/P185H GALCT Q53XK1/P185L GALCT Q53XK1/P185S GALCT Q53XK1/Q188R GALCT Q53XK1/S192G GALCT Q53XK1/S192N GALCT Q53XK1/F194L GALCT Q53XK1/L195P GALCT Q53XK1/I198M GALCT Q53XK1/I198T GALCT Q53XK1/A199T GALCT Q53XK1/R201C GALCT Q53XK1/R201H GALCT Q53XK1/E203K GALCT Q53XK1/R204P GALCT Q53XK1/Y209C GALCT Q53XK1/Y209S GALCT Q53XK1/Q212H GALCT Q53XK1/L217P GALCT Q53XK1/E220K GALCT Q53XK1/R223S GALCT Q53XK1/L226P GALCT Q53XK1/L227P GALCT Q53XK1/K229N GALCT Q53XK1/R231H GALCT Q53XK1/W249R GALCT Q53XK1/Y251C GALCT Q53XK1/Y251S GALCT Q53XK1/Q252H GALCT Q53XK1/R258C GALCT Q53XK1/R259Q GALCT Q53XK1/R259W GALCT Q53XK1/R262P GALCT Q53XK1/P265A GALCT Q53XK1/R272G GALCT Q53XK1/I278N GALCT Q53XK1/L282V GALCT Q53XK1/K285N GALCT Q53XK1/K285R GALCT Q53XK1/L289F GALCT Q53XK1/L289R GALCT Q53XK1/E291K GALCT Q53XK1/E291V GALCT Q53XK1/F294Y GALCT Q53XK1/E308K GALCT Q53XK1/N314D Duarte Q53XK1/Q317H GALCT Q53XK1/Q317R GALCT Q53XK1/H319Q GALCT Q53XK1/A320T GALCT Q53XK1/Y323D GALCT Q53XK1/Y323H GALCT Q53XK1/P324S GALCT Q53XK1/P325L GALCT Q53XK1/L327P GALCT Q53XK1/R328H GALCT Q53XK1/S329F GALCT Q53XK1/A330V GALCT Q53XK1/R333G GALCT Q53XK1/R333L GALCT Q53XK1/R333Q GALCT Q53XK1/R333W GALCT Q53XK1/K334R GALCT Q53XK1/M336L GALCT Q53XK1/L342I GALCT Q53XK1/Q344K GALCT Q53XK1/A345D GALCT Q53XK1/T350A GALCT Q14353/W20S CCDS2 Q14353/M50L CCDS2 Q14353/H51P CCDS2 Q14353/A54P CCDS2 Q14353/C169Y CCDS2 Q14353/L197P CCDS2 Q9H2C0/R15S GAN Q9H2C0/A51P GAN Q9H2C0/S52G GAN Q9H2C0/S79L GAN Q9H2C0/V82F GAN Q9H2C0/I86F GAN Q9H2C0/Y89C GAN Q9H2C0/R138H GAN Q9H2C0/V195F GAN Q9H2C0/R269Q GAN Q9H2C0/L309R GAN Q9H2C0/P315L GAN Q9H2C0/G368R GAN Q9H2C0/I423T GAN Q9H2C0/G474R GAN Q9H2C0/E486K GAN Q9H2C0/R545C GAN Q9H2C0/R545H GAN Q9H2C0/C570Y GAN P15976/V205M XDAT P15976/G208S XDAT P15976/R216Q XLTT P15976/D218G XDAT P15976/D218Y XDAT P23769/P254L DCML P23769/T354M DCML and MDS P23769/R361P LMPM P23769/C373R LMPM P23769/R398W DCML P23771/W274R HDR P43694/A6V VSD1 P43694/R43W VSD1 P43694/S52F ASD2 P43694/G93A ASD2 P43694/A118AA TOF P43694/P163S AVSD4 P43694/T280M ASD2 P43694/G296C ASD2 P43694/G296R VSD1 P43694/G296S ASD2 P43694/M310V ASD2 P43694/Q316E ASD2 P43694/A346V AVSD4 P43694/E359K VSD1 P43694/L403M ASD2 P43694/P407Q VSD1 and TOF P43694/A411V VSD1 P43694/D425N ASD2 P43694/S429T VSD1 P43694/A442V VSD1 Q92908/A178V AVSD5 Q92908/S184N ASD9 and TOF Q92908/L198V TOF Q92908/T452A PACHD Q92908/R456C PACHD Q92908/R456H PACHD Q92908/N466D PACHD Q92908/N466H CTHM Q92908/A467T PACHD Q92908/K473Q PACHD Q8WUU5/S102P CMD2B P50440/Y203S CCDS3 Q9HCG7/R630W SPG46 Q9HCG7/R873H SPG46 Q9HAV0/G53D CMTDIF Q9HAV0/K89E CMTDIF P14867/A322D EJM5 P28472/G32R ECA5 O14764/E177A GEFS+5 P18507/R82Q ECA2 and FEB8 P18507/R177G FEB8 P18507/K328M GEFS+3 Q92947/R88C GA1 Q92947/R94L GA1 Q92947/G101R GA1 Q92947/C115Y GA1 Q92947/A122V GA1 Q92947/R128G GA1 Q92947/R138G GA1 Q92947/S139L GA1 Q92947/V148I GA1 Q92947/R161Q GA1 Q92947/G178R GA1 Q92947/L179R GA1 Q92947/M191T GA1 Q92947/A195T GA1 Q92947/R227P GA1 Q92947/F236L GA1 Q92947/R257Q GA1 Q92947/R257W GA1 Q92947/M263V GA1 Q92947/M266V GA1 Q92947/P278S GA1 Q92947/L283P GA1 Q92947/A293T GA1 Q92947/R294W GA1 Q92947/Y295H GA1 Q92947/S305L GA1 Q92947/C308S GA1 Q92947/L309W GA1 Q92947/R313W GA1 Q92947/Q333E GA1 Q92947/A349T GA1 Q92947/G354R GA1 Q92947/G354S GA1 Q92947/R355C GA1 Q92947/R355H GA1 Q92947/E365K GA1 Q92947/C375R GA1 Q92947/A382T GA1 Q92947/R383C GA1 Q92947/R383H GA1 Q92947/R386Q GA1 Q92947/G390A GA1 Q92947/G390R GA1 Q92947/N392D GA1 Q92947/V400M GA1 Q92947/R402Q GA1 Q92947/R402W GA1 Q92947/H403R GA1 Q92947/N406K GA1 Q92947/L407P GA1 Q92947/E414K GA1 Q92947/T416I GA1 Q92947/A421T GA1 Q92947/A421V GA1 Q92947/T429M GA1 Q92947/A433E GA1 P30793/G15D HGCH-3 P30793/P23L DYT5 P30793/L71Q DYT5 P30793/A74V DYT5 P30793/L79P DYT5 P30793/G83A DYT5 P30793/R88P DYT5 P30793/R88W DYT5 P30793/G90V DYT5 P30793/M102K DYT5 P30793/M102R DYT5 P30793/T106I DYT5 P30793/G108D GCH1D P30793/D115N DYT5 P30793/D134V DYT5 P30793/I135K DYT5 P30793/C141R DYT5 P30793/C141W DYT5 P30793/H144P DYT5 P30793/H153P DYT5 P30793/L163R DYT5 P30793/S176T DYT5 P30793/R178S DYT5 P30793/Q180R DYT5 P30793/R184H GCH1D P30793/T186K DYT5 P30793/V191I DYT5 P30793/P199L DYT5 P30793/G201E DYT5 P30793/G203R DYT5 P30793/M211I GCH1D P30793/M211V DYT5 P30793/M213V DYT5 P30793/M221T GCH1D P30793/K224R GCH1D and DYT5 P30793/F234S DYT5 P30793/R241W DYT5 P30793/R249S DYT5 O75603/R47L FIH O75603/G63S FIH O75603/R110W FIH O75603/N502H FIH P04150/R477H GCRES P04150/I559N GCRES P04150/D641V GCRES P04150/G679S GCRES P04150/V729I GCRES P04150/I747M GCRES P23378/A283P NKH P23378/R515S NKH P23378/S564I NKH P48728/H42R NKH P48728/G47R NKH P48728/N145I NKH P48728/E211K NKH P48728/G269D NKH P48728/D276H NKH P48728/R320H NKH Q8TB36/R120Q CMT4A Q8TB36/R161H CMT4A Q8TB36/H256R CMT2K Q8TB36/R282C CMT4A Q8TB36/R282H CMT2K Q8TB36/R310Q CMT2RV Q9UF08/G1448R GSD3 P27539/G162D TOF P27539/C267Y CTHM P27539/S309P TOF P27539/P312T TOF P27539/A318T DTGA3 Q9NR23/R195Q MCOP7 Q9NR23/R266C KFS3 and MCOPCB6 Q9NR23/R274W MCOPCB6 Q9NR23/L305P MCOP7 P43026/M173V BDC P43026/L373R SYM1B P43026/R378Q DPS P43026/R380Q BDA2 P43026/R399C BDA1C P43026/C400Y AMDG P43026/P436T DPS P43026/R438L SYNS2 and SYM1B P43026/S439T DPS P43026/H440L DPS P43026/L441P DPS and BDA2 P43026/S475N SYNS2 P43026/E491K SYM1B Q6KF10/G42V KFS1 Q6KF10/Q119R MCOP4 Q6KF10/D216G MCOP4 Q6KF10/A249E KFS1 and MCOP4 Q6KF10/Q253L MCOP4 Q6KF10/L289P KFS1 Q6KF10/P327H MCOP4 Q6KF10/K424R KFS1 P31150/L92P MRX41 P31150/R423P MRX41 Q9UD33/P21S HSCR3 Q9UD33/R93W HSCR3 and CCHS Q9UD33/D150N HSCR3 Q9UD33/T154S HSCR3 Q9UD33/I211M HSCR3 P06396/D214N AMYL5 P06396/D214Y AMYL5 Q7Z5J7/P47L ALEXD Q7Z5J7/L76F ALEXD Q7Z5J7/N77Y ALEXD Q7Z5J7/D78E ALEXD Q7Z5J7/R79C ALEXD Q7Z5J7/R79H ALEXD Q7Z5J7/R88C ALEXD Q7Z5J7/R88S ALEXD Q7Z5J7/E223Q ALEXD Q7Z5J7/R239C ALEXD Q7Z5J7/R239H ALEXD Q7Z5J7/A244V ALEXD Q7Z5J7/R258P ALEXD Q7Z5J7/E362D ALEXD Q7Z5J7/R416W ALEXD Q99684/N382S SCN2 Q99684/K403R NI-CINA Q06210/T15A CMSTA1 Q06210/T15M CMSTA1 Q06210/D43V CMSTA1 Q06210/R111C CMSTA1 Q06210/I121T CMSTA1 Q06210/V199F CMSTA1 Q06210/D366Y CMSTA1 Q06210/R403H CMSTA1 Q06210/R452H CMSTA1 Q06210/M509T CMSTA1 Q06210/M510T CMSTA1 Q06210/R514W CMSTA1 Q06210/R530W CMSTA1 E9PP01/P206L EIEE3 Q02643/L144H IGHD1B Q02643/A176V IGHD1B Q02643/A222E IGHD1B Q02643/F242C IGHD1B Q02643/K329E IGHD1B P10912/C56S LARS P10912/S58L LARS P10912/E62K ISSA P10912/W68R LARS P10912/R89K LARS P10912/F114S LARS P10912/V143A LARS P10912/P149Q LARS P10912/V162D LARS P10912/D170H LARS P10912/I171T LARS P10912/Q172P LARS P10912/V173G LARS P10912/R179C LARS and ISSA P10912/Y226C LARS P10912/R229G LARS P10912/S244I LARS P10912/D262N LARS P10912/C440F LARS Q92847/A204E ISSA Q8TF64/G46R DFNB15 Q8TF64/M88I DFNB15 Q8TF64/G94D DFNB15 Q8TF64/R189C DFNB15 Q8TF64/T221I DFNB15 Q8TF64/G256D DFNB15 Q8TF64/L262R DFNB15 P04062/V54L GD P04062/C55S GD P04062/D63N GD1 P04062/F76V GD P04062/E80K GD2 P04062/T82I GD P04062/G85E GD P04062/R87Q GD P04062/R87W GD P04062/K118N GD P04062/A129T GD P04062/S146L GD P04062/G152E GD P04062/N156D GD P04062/I158S GD1 P04062/I158T GD P04062/R159Q GD P04062/R159W GD P04062/P161L GD P04062/P161S GD P04062/M162V GD P04062/D166V GD P04062/R170C GD1 and GD2 P04062/R170L GD P04062/T173I GD P04062/T173P GD P04062/A175E GD P04062/D179H GD P04062/K196Q GD P04062/P198L GD P04062/P198T GD P04062/I200N GD P04062/I200S GD P04062/H201P GD P04062/R209C GD P04062/R209P GD P04062/L213F GD P04062/A215D GD P04062/P217S GD P04062/P221L GD1 P04062/P221T GD P04062/W223R GD P04062/L224F GD P04062/N227K GD P04062/N227S GD P04062/G228V GD P04062/A229E GD P04062/A229T GD P04062/V230E GD1 P04062/V230G GD1 P04062/G232E GD P04062/G234E GD P04062/G234W GD P04062/S235P GD P04062/K237E GD P04062/G241E GD P04062/G241R GD P04062/Y244C GD P04062/Y251H GD P04062/F252I GD P04062/F255Y GD P04062/T270R GD P04062/S276P GD P04062/F290L GD P04062/H294Q GD1 P04062/R296Q GD P04062/F298L GD P04062/L303I GD P04062/G304D GD P04062/P305R GD P04062/S310N GD P04062/R324C GD P04062/R324H GD P04062/P328L GD P04062/K342I GD P04062/Y343C GD P04062/A348V GD P04062/W351C GD P04062/Y352H GD P04062/D354H GD P04062/A357D GD P04062/T362I GD P04062/L363P GD P04062/G364R GD P04062/E365K GD P04062/A380T GD P04062/C381G GD P04062/E388K GD P04062/V391L GD P04062/R392G GD P04062/R392W GD P04062/R398Q GD P04062/M400I GD P04062/Y402C GD P04062/S403T GD P04062/S405G GD P04062/S405N GD P04062/T408M GD P04062/N409S GD1 P04062/L410V GD P04062/V414L GD P04062/G416S GD P04062/W417G GD P04062/D419A GD P04062/D419H GD P04062/D419N GD P04062/N421K GD P04062/P426L GD P04062/G428E GD P04062/G429R GD P04062/P430L GD P04062/N431I GD P04062/W432R GD P04062/V433L GD P04062/N435T GD1 P04062/F436S GD P04062/V437L GD3 P04062/D438N GD P04062/D438Y GD P04062/P440L GD1 P04062/I441F GD P04062/I441T GD P04062/D448H GD P04062/D448V GD P04062/F450I GD P04062/Y451H GD P04062/K452Q GD P04062/P454R GD P04062/M455V GD P04062/F456V GD P04062/Y457C GD P04062/G460D GD1 P04062/K464E GD P04062/L483P GD1 and GD2 P04062/L483R GD P04062/A485P GD P04062/H490R GD P04062/A495P GD P04062/L500P GD P04062/N501K GD P04062/R502C GD P04062/R502P GD P04062/D513Y GD2 P04062/G517S GD P04062/T530I GD3 P04062/R535C GD P04062/R535H GD F5H499/P27S IBM2 F5H499/P36L IBM2 F5H499/H132Q NM F5H499/R162C IBM2 F5H499/M171V IBM2 F5H499/D176V NM F5H499/R177C NM F5H499/I200F IBM2 F5H499/G206S IBM2 F5H499/V216A IBM2 F5H499/D225N IBM2 F5H499/R246Q IBM2 F5H499/R246W IBM2 F5H499/R263L SIALURIA F5H499/R266Q SIALURIA F5H499/C303V IBM2 F5H499/R306Q NM F5H499/V331A NM F5H499/D378Y IBM2 and NM F5H499/A460V NM and IBM2 F5H499/I472T NM F5H499/N519S IBM2 F5H499/A524V IBM2 F5H499/F528C IBM2 F5H499/I557T IBM2 F5H499/V572L NM and IBM2 F5H499/G576E IBM2 F5H499/I587T IBM2 F5H499/A600T IBM2 F5H499/A630T NM F5H499/A631T IBM2 F5H499/A631V NM and IBM2 F5H499/Y675H IBM2 F5H499/V696M IBM2 F5H499/M712T IBM2 Q8IVS8/F493C D-GA Q53GS7/T144TPFQ LCCS1 Q53GS7/R569H LCCS1 Q53GS7/V617M LAAHD Q53GS7/I684T LAAHD Q04446/L224P GSD4 Q04446/F257L GSD4 Q04446/Y329S GSD4 Q04446/R515C GSD4 Q04446/R515H APBD Q04446/R524Q GSD4 and APBD Q04446/H545R GSD4 Q04446/H628R GSD4 P10070/R479G HPE9 P10070/P932S HPE9 P10070/M1444I HPE9 P10070/P1554L HPE9 P10071/C515G GCPS P10071/C520Y GCPS P10071/R625W GCPS P10071/P707S GCPS P10071/G727R PAPA1 and PAPB P10071/I808M GCPS P10071/A934P GCPS P15104/R324C CSGD P15104/R341C CSGD P02724/S20L N antigen and M(g P02724/T23N M(g P02724/G24E N antigen, in M(c P02724/D46E Ny(a P02724/T47K ENEH/Hut antigen P02724/T47M ENEH/Vw antigen P02724/R50W Or antigen P02724/S66Y Vr antigen P02724/P73S Os(a P02724/E76K Ri(a P02724/T77I Mt(a P02724/G78R ERIK antigen P02724/Q82K ENAV/MARS antigen P02724/A84P ENEP/HAG antigen P06028/T22S M(v P06028/T48M S antigen and Mit antigen P06028/R54H Mit antigen P04921/N8S Webb (WB P04921/L14F Duch (DH(a P04921/A23S Ahonen (AN(a P32189/N294D GKD P32189/D446V GKD P32189/W509R GKD P23415/I272N HKPX1 P23415/P278T HKPX1 P23415/R280H HKPX1 P23415/Q294H HKPX1 P23415/R299L HKPX1 P23415/R299Q HKPX1 P23415/K304E HKPX1 P23415/Y307C HKPX1 P23415/R428H HKPX1 P48167/M199R HKPX2 P48167/G251D HKPX2 Q8IXK2/R297W CRCS1 Q8IXK2/D303N CRCS1 Q8IXK2/E341D CRCS1 Q8IXK2/R373H CRCS1 Q8IXK2/R382H CRCS1 Q8IXK2/Y396C CRCS1 Q8IXK2/C479F CRCS1 Q8IXK2/T491M CRCS1 P46976/T83M GSD15 P08754/G40R ARCND1 P38405/V137M DYT25 P38405/E155K DYT25 P50148/R183Q SWS Q5JWF2/A436D GNASHYP Q5JWF2/A437APADPDSGAAPDA GNAS hyperfunction Q5JWF2/P459R GNASHYP Q5JWD4/L99P AHO Q5JWD4/I106S AHO/PHP1A Q5JWD4/P115L AHO Q5JWD4/D156N PHP1A Q5JWD4/V159M PHP1A Q5JWD4/R165C AHO Q5JWD4/R201C MAS and somatotrophinoma Q5JWD4/R201G MAS Q5JWD4/R201H MAS, somatotrophinoma and AIMAH Q5JWD4/R201S AIMAH, pituitary tumor and polyostotic fibrous dysplasia Q5JWD4/R231H AHO Q5JWD4/T242I AHO Q5JWD4/F246S AHO Q5JWD4/S250R AHO Q5JWD4/R258W AHO Q5JWD4/E259V AHO Q5JWD4/R280G PHP1A Q5JWD4/R280K PHP1A Q5JWD4/W281R POH Q5JWD4/K338N PHP1A Q5JWD4/A366S AHO Q5JWD4/R385H AHO Q5JWD4/L388R PHP1C Q5JWD4/E392K PHP1C P11488/G38D CSNBAD3 Q14749/L50P GNMT deficiency Q14749/N141S GNMT deficiency Q14749/H177N GNMT deficiency O15228/R211C RCDP2 O15228/R211H RCDP2 O15228/D519G RCDP2 Q3T906/K4Q MLIIIA Q3T906/F374L MLIIIA Q3T906/S399F MLIIIA Q3T906/I403T MLIIIA Q3T906/D407A MLIIIA Q3T906/C442Y MLIIIA Q3T906/C461G MLIIIA Q3T906/Q926P MLIIIA Q3T906/H956Y MLIIIA Q3T906/L1001P MLII Q3T906/N1153S MLIIIA Q3T906/K1236M MLII P30968/N10K HH7 P30968/L83V HH7 P30968/E90K HH7 P30968/Q106R HH7 and FEUNS P30968/A129D HH7 P30968/R139H HH7 P30968/S168R HH7 P30968/A171T HH7 P30968/S217R HH7 P30968/R262Q HH7 P30968/Y284C HH7 P15586/S94I MPS3D P15586/K340R MPS3D P15586/G418E MPS3D P01148/R31C HH12 O14653/G144W EPM6 P51810/R5C OA1 P51810/G35D OA1 P51810/L39R OA1 P51810/D78N OA1 P51810/D78V OA1 P51810/G81V OA1 P51810/G84D OA1 P51810/G84R OA1 P51810/S89F NYS6 P51810/C116G OA1 P51810/C116R OA1 P51810/C116S OA1 P51810/C116W OA1 P51810/G118E OA1 P51810/Q124R OA1 P51810/W132R OA1 P51810/W133R OA1 P51810/L134P OA1 P51810/A138V OA1 P51810/S152N OA1 P51810/T166N OA1 P51810/A173D OA1 P51810/E185K OA1 P51810/R186P OA1 P51810/R186W OA1 P51810/G229V OA1 P51810/T232K OA1 P51810/E233K OA1 P51810/E235K OA1 P51810/I244V OA1 P51810/I261N OA1 P51810/E271G OA1 P51810/W292C OA1 P51810/W292G OA1 Q6PRD1/D126H CSNB1E Q6PRD1/Y220C CSNB1E Q6PRD1/G455D CSNB1E Q6PRD1/H603Y CSNB1E P07359/L73F BSS P07359/C81R BSS P07359/L145P BSS P07359/T161M Siba(+ P07359/A172V BSS and BSSA2 P07359/C225S BSS P07359/G249S VWDP P07359/G249V VWDP P07359/M255V VWDP P13224/Y113C BSS P13224/A133P BSS P51654/W296R SGBS1 Q8N335/E83K SIDS Q8N335/I124V SIDS Q8N335/R273C SIDS Q8N335/A280V BRGDA2 P14770/L7P BSS P14770/C24R BSS P14770/D37G BSS P14770/L56P BSS P14770/N61S BSS P14770/F71S BSS P14770/C113Y BSS P14770/A156T BSS Q96HB4/R38Q BFPP Q96HB4/R38W BFPP Q96HB4/Y88C BFPP Q96HB4/C91S BFPP Q96HB4/C346S BFPP Q96HB4/W349S BFPP Q96HB4/E496K BFPP Q96HB4/R565W BFPP Q96HB4/L640R BFPP Q8WXG9/R4789W USH2C Q8WXG9/H5978R USH2C Q9H3H5/M108I CMSTA2 Q9H3H5/V117I CMSTA2 Q9H3H5/L120M CMSTA2 Q9H3H5/G160S CMSTA2 Q9H3H5/Y170C CDG1J Q9H3H5/G192S CMSTA2 Q9H3H5/V264G CMSTA2 Q9HCN6/R58C BDPLT11 Q9HCN6/S175N BDPLT11 A8MXD5/P38L DFNB25 A8MXD5/G64S DFNB25 A8MXD5/R138C DFNB25 A8MXD5/F153V DFNB25 P42262/Q607R RNA edited version P42263/R450Q MRX94 P42263/R631S MRX94 P42263/M706T MRX94 P42263/G833R MRX94 P39086/Q636R RNA edited version Q8WWS1/I567V RNA edited version Q8WWS1/Y571C RNA edited version Q8WWS1/Q621R RNA edited version Q13003/R352Q RNA edited version O15303/P46L CSNB1B O15303/G58R CSNB1B O15303/G150S CSNB1B O15303/I405T CSNB1B O15303/C522Y CSNB1B O15303/E781K CSNB1B Q9BWE7/A9D UP-D P48506/R127C HAGGSD P48506/P158L HAGGSD P48506/H370L HAGGSD P48637/A26D GSS deficiency P48637/L188P GSS deficiency P48637/D219A GSS deficiency P48637/D219G GSS deficiency P48637/L254R GSS deficiency P48637/R267W GSS deficiency P48637/Y270C GSS deficiency P48637/Y270H GSS deficiency P48637/R283C GSS deficiency P48637/L286Q GSS deficiency P48637/R330C GSS deficiency P48637/G464V GSS deficiency P48637/D469E GSS deficiency O95528/S81R ATS O95528/R132W ATS O95528/G142V ATS O95528/R231Q ATS O95528/G246E ATS O95528/G426W ATS O95528/E437K ATS O95528/G445E ATS P11166/N34I GLUT1DS2 P11166/N34S GLUT1DS1 P11166/N34Y GLUT1DS1 P11166/S66F GLUT1DS1 P11166/G91D GLUT1DS1 P11166/R92W GLUT1DS2 P11166/R93W GLUT1DS2 P11166/S95I GLUT1DS2 P11166/M96V GLUT1DS1 P11166/R126C GLUT1DS1, GLUT1DS2 and DYT9 P11166/R126H GLUT1DS1 P11166/R126L GLUT1DS1 P11166/G130S GLUT1DS1 P11166/E146K GLUT1DS1 P11166/R153C GLUT1DS1 P11166/R153H GLUT1DS2 P11166/A155V GLUT1DS1 P11166/V165I GLUT1DS2 P11166/R212C GLUT1DS1 and DYT9 P11166/R212H GLUT1DS1 P11166/R223P EIG12 P11166/R223W GLUT1DS1 P11166/R232C EIG12 P11166/K256E GLUT1DS1 P11166/A275T GLUT1DS2 P11166/Y292YY GLUT1DS1 P11166/S294P GLUT1DS2 P11166/T295M GLUT1DS1 P11166/T310I GLUT1DS1 P11166/G314S GLUT1DS2 P11166/N317T GLUT1DS2 P11166/S324L GLUT1DS2 P11166/E329Q GLUT1DS1 P11166/R333Q GLUT1DS1 and GLUT1DS2 P11166/R333W GLUT1DS1 P11166/G382D GLUT1DS1 P11166/A405D GLUT1DS1 P11166/R468W GLUT1DS1 P11166/P485L GLUT1DS1 P11168/V197I NIDDM P11168/L389P FBS P11168/P417L FBS P11168/V423E FBS P14672/V383I NIDDM Q9NRM0/L75R RHUC2 Q9NRM0/T125M RHUC2 Q9NRM0/R171C RHUC2 Q9NRM0/R198C RHUC2 Q9NRM0/R380W RHUC2 P43080/P50L COD3 P43080/E89K COD3 P43080/Y99C COD3 P43080/D100E COD3 P43080/I143NT COD3 P43080/L151F COD3 P43080/E155G COD3 P43080/G159V COD3 Q9UMX6/G157R RP48 P25092/D387G MECIL P25092/S840I DIAR6 Q02846/A52S LCA1 Q02846/T55M LCA1 Q02846/E103V LCA1 Q02846/C105Y LCA1 Q02846/T312M LCA1 Q02846/L325P LCA1 Q02846/A362S LCA1 Q02846/LD405PN LCA1 Q02846/R438C LCA1 Q02846/F565S LCA1 Q02846/I573V LCA1 Q02846/W640L LCA1 Q02846/R660Q LCA1 Q02846/D728H LCA1 Q02846/I734A LCA1 Q02846/R768W LCA1 Q02846/M784R LCA1 Q02846/R795Q LCA1 Q02846/ERT837DCM CORD6 Q02846/E837D CORD6 Q02846/R838C CORD6 Q02846/R838H CORD6 Q02846/P858S LCA1 Q02846/L954P LCA1 Q02846/S1007L LCA1 Q02846/I1027IGI LCA1 Q96GX5/E167D THC2 P13807/G464S NIDDM P54840/N39S GSD0 P54840/A339P GSD0 P54840/H446D GSD0 P54840/P479Q GSD0 P54840/S483P GSD0 P54840/M491R GSD0 P07305/M1MLGKGRQRRRRQRQRQSPVPRPSDRPAGLGLAKPAR RNA edited version O60243/R306Q HH15 O60243/R306W HH15 O60243/R323Q HH15 O60243/R382W HH15 O60243/M404V HH15 Q14520/E393Q Marburg II polymorphism Q14520/G534E Marburg I polymorphism O43593/D1012N ALUNC O43593/T1022A ALUNC O43593/V1136D ALUNC O00165/L130R SCN3 O00165/F141L SCN3 O00165/V172I SCN3 P69905/V2E Thionville P69905/L3R ChongQing P69905/A6D J-Toronto P69905/A6P Karachi P69905/D7A Sawara P69905/D7G Swan River P69905/D7N Dunn P69905/D7V Ferndown P69905/D7Y Woodville P69905/K8E Kurosaki P69905/N10T Broomfield P69905/K12E Anantharaj P69905/A13D J-Paris 1/J-Aljezur P69905/A14P Ravenscourt Park P69905/W15R Evanston P69905/G16R Ottawa/Siam P69905/K17M Harbin P69905/K17N Beijing P69905/G19D Al-Ain Abu Dhabi P69905/G19R Handsworth P69905/A20D J-Kurosh P69905/A20E J-Tashikuergan P69905/H21Q Le Lamentin P69905/H21R Hobart P69905/A22D J-Nyanza P69905/A22P Fontainebleau P69905/G23D J-Medellin P69905/E24G Reims P69905/E24K Chad P69905/Y25H Luxembourg P69905/A27E Shenyang P69905/A27V Campinas P69905/E28D Hekinan P69905/E28G Fort Worth P69905/E28V Spanish town P69905/E31K O-Padova P69905/R32S Prato P69905/L35R Queens/Ogi P69905/P38PE Catonsville P69905/P38R Bourmedes P69905/K41M Kanagawa P69905/T42S Miyano P69905/F44L Hirosaki P69905/P45L Milledgeville P69905/P45R Kawachi P69905/H46Q Bari P69905/H46R Fort de France P69905/D48A Cordele P69905/D48G Umi/Michigan P69905/D48H Hasharon/Sinai P69905/D48Y Kurdistan P69905/L49R Montgomery P69905/S50R Savaria P69905/H51R Aichi P69905/G52D J-Abidjan P69905/G52R Russ P69905/A54D J-Rovigo P69905/Q55R Hikoshima/Shimonoseki P69905/K57R Port Huron P69905/K57T Thailand P69905/G58R L-Persian Gulf P69905/H59Q Boghe P69905/H59Y M-Boston/M-Osaka P69905/G60D Adana P69905/G60V Tottori P69905/K61N Zambia P69905/K62N J-Buda P69905/K62T J-Anatolia P69905/V63M Evans P69905/A64D Pontoise P69905/D65Y Persepolis P69905/N69K G-Philadelphia P69905/A72E J-Habana P69905/A72V Ozieri P69905/H73R Daneskgah-Teheran P69905/D75A Lille P69905/D75G Chapel Hill P69905/D75N G-Pest P69905/D76A Duan P69905/D76H Q-Iran P69905/M77K Noko P69905/M77T Aztec P69905/P78R Guizhou P69905/N79H Davenport P69905/N79K Stanleyville-2 P69905/A80G Singapore P69905/L81R Ann Arbor P69905/S82C Nigeria P69905/A83D Garden State P69905/S85R Etobicoke P69905/D86V Inkster P69905/D86Y Atago P69905/L87R Moabit P69905/H88N Auckland P69905/H88R Iwata P69905/A89S Loire P69905/K91M Handa P69905/L92P Port Phillip P69905/R93Q J-Cape Town P69905/R93W Cemenelum P69905/D95A Bassett P69905/D95Y Setif P69905/P96A Denmark Hill P69905/P96T Godavari P69905/N98K Dallas P69905/K100E Turriff P69905/S103R Manitoba P69905/H104R Contaldo P69905/H104Y Charolles P69905/L110R Suan-Dok P69905/A111D Petah Tikva P69905/H113D Hopkins-II P69905/L114H Twin Peaks P69905/P115L Nouakchott P69905/P115R Chiapas P69905/P115S Melusine P69905/A116D J-Tongariki P69905/E117A Ube-4 P69905/E117EHLPAE Zaire P69905/F118FI Phnom Penh P69905/T119TEFT Grady P69905/A121E J-Meerut/J-Birmingham P69905/V122M Owari P69905/H123Q Westmead P69905/L126P Quong Sze P69905/L126R Plasencia P69905/D127G West One P69905/D127V Fukutomi P69905/D127Y Monteriore P69905/K128N Jackson P69905/L130P Tunis-Bizerte P69905/A131D Yuda P69905/A131P Sun Prairie P69905/S132P Questembert P69905/S134R Val de Marne P69905/V136E Pavie P69905/L137M Chicago P69905/L137P Bibba P69905/L137R Toyama P69905/S139P Attleboro P69905/K140E Hanamaki P69905/K140T Tokoname P69905/Y141H Rouen/Ethiopia P69905/R142C Nunobiki P69905/R142H Suresnes P69905/R142L Legnano P69905/R142P Singapore Q549N7/V2A Raleigh Q549N7/H3L Graz Q549N7/H3Q Okayama Q549N7/H3R Deer Lodge Q549N7/H3Y Fukuoka Q549N7/P6R Warwickshire Q549N7/E7A G-Makassar Q549N7/E7K C Q549N7/E7Q Machida Q549N7/E7V S Q549N7/E8G G-San Jose Q549N7/E8K G-Siriraj Q549N7/K9E N-Timone Q549N7/K9Q J-Luhe Q549N7/K9T Rio Grande Q549N7/S10C Porto Alegre Q549N7/A11D Ankara Q549N7/A11V Iraq-Halabja Q549N7/V12D Windsor Q549N7/V12I Hamilton Q549N7/A14D J-Lens Q549N7/L15P Saki Q549N7/L15R Soegn Q549N7/W16G Randwick Q549N7/W16R Belfast Q549N7/G17D J-Baltimore/J-Trinidad/J- Ireland/J-Georgia/N-New Haven Q549N7/G17R D-Bushman Q549N7/K18E Nagasaki Q549N7/K18N J-Amiens Q549N7/K18Q Nikosia Q549N7/V19M Baden Q549N7/N20D Alamo Q549N7/N20K D-Ouleh RABAH Q549N7/N20S Malay Q549N7/V21M Olympia Q549N7/D22G Connecticut Q549N7/D22H Karlskoga Q549N7/D22N Cocody Q549N7/D22Y Yusa Q549N7/E23A G-Coushatta/G-Saskatoon/G- Taegu/Hsin Chu Q549N7/E23G G-Taipei Q549N7/E23K E-Saskatoon Q549N7/E23Q D-Iran Q549N7/E23V D-Granada Q549N7/V24D Strasbourg Q549N7/V24F Palmerston North Q549N7/V24G Miyashiro Q549N7/G25D Moscva Q549N7/G25R Riverdale-Bronx Q549N7/G25V Savannah Q549N7/G26D J-Auckland Q549N7/G26R G-Taiwan Ami Q549N7/E27K E Q549N7/E27V Henri Mondor Q549N7/A28D Volga/Drenthe Q549N7/A28S Knossos Q549N7/A28V Grange-blanche Q549N7/L29P Genova/Hyogo Q549N7/L29Q St Louis Q549N7/G30D Lufkin Q549N7/R31S Tacoma Q549N7/L32P Yokohama Q549N7/L33R Castilla Q549N7/L33V Muscat Q549N7/V35D Santander Q549N7/V35F Pitie-Salpetriere Q549N7/V35L Nantes Q549N7/Y36F Philly Q549N7/P37R Sunnybrook Q549N7/P37S North Chicago Q549N7/P37T Linkoping/Finlandia Q549N7/W38G Howick Q549N7/W38R Rothschild Q549N7/W38S Hirose Q549N7/T39N Hinwil Q549N7/Q40E Vaasa Q549N7/Q40K Alabama Q549N7/Q40R Tianshui Q549N7/F42Y Mequon Q549N7/F43L Louisville Q549N7/F43S Hammersmith Q549N7/E44Q Hoshida/Chaya Q549N7/S45C Mississippi Q549N7/F46S Cheverly Q549N7/G47E K-Ibadan Q549N7/D48A Avicenna Q549N7/D48G Gavello Q549N7/D48Y Maputo Q549N7/L49P Bab-Saadoum Q549N7/S50F Las Palmas Q549N7/T51K Edmonton Q549N7/P52R Willamette Q549N7/D53A Ocho Rios Q549N7/D53H Summer Hill Q549N7/V55D Jacksonville Q549N7/M56K Matera Q549N7/G57R Hamadan Q549N7/N58K G-ferrara Q549N7/P59R Dhofar/Yukuhashi Q549N7/K60E I-High Wycombe Q549N7/V61A Collingwood Q549N7/K62E N-Seatlle Q549N7/K62M Bologna Q549N7/K62N Hikari Q549N7/A63D J-Europa Q549N7/A63P Duarte Q549N7/H64Y M-Saskatoon Q549N7/K66M J-Antakya Q549N7/K66N J-Sicilia Q549N7/K66Q J-Cairo Q549N7/K67T Chico Q549N7/V68A Sydney Q549N7/V68D Bristol Q549N7/V68M Alesha Q549N7/L69H Brisbane Q549N7/L69P Mizuho Q549N7/G70D Rambam Q549N7/G70R Kenitra Q549N7/G70S City of Hope Q549N7/A71D Seattle Q549N7/F72S Christchurch Q549N7/D74G Tilburg Q549N7/D74V Mobile Q549N7/D74Y Vancouver Q549N7/G75R Aalborg Q549N7/G75V Bushwick Q549N7/L76P Atlanta Q549N7/L76R Pasadena Q549N7/A77D J-Chicago Q549N7/H78D J-Iran Q549N7/H78R Costa Rica Q549N7/H78Y Fukuyama Q549N7/L79R Quin-hai Q549N7/D80Y Tampa Q549N7/N81K G-Szuhu/Gifu Q549N7/L82H La Roche-sur-Yon Q549N7/L82R Baylor Q549N7/K83M Helsinki Q549N7/K83N Providence Q549N7/G84D Pyrgos Q549N7/G84R Muskegon Q549N7/T85I Kofu Q549N7/A87D Olomouc Q549N7/T88I Quebec-Chori Q549N7/T88K D-Ibadan Q549N7/T88P Valletta Q549N7/L89P Santa Ana Q549N7/L89R Boras Q549N7/S90N Creteil Q549N7/S90R Vanderbilt Q549N7/E91D Pierre-Benite Q549N7/E91K Agenogi Q549N7/L92P Sabine Q549N7/L92R Caribbean Q549N7/H93D J-Altgelds Gardens Q549N7/H93N Isehara Q549N7/H93P Newcastle and Duino Q549N7/H93Q Istambul Q549N7/C94R Okazaki Q549N7/D95G Chandigarh Q549N7/D95H Barcelona Q549N7/D95N Bunbury Q549N7/K96M J-Cordoba Q549N7/K96N Detroit Q549N7/L97P Debrousse Q549N7/L97V Regina Q549N7/H98L Wood Q549N7/H98P Nagoya Q549N7/H98Q Malmoe Q549N7/H98Y Moriguchi Q549N7/V99G Nottingham Q549N7/D100E Coimbra Q549N7/P101L Brigham Q549N7/P101R New Mexico Q549N7/E102D Potomac Q549N7/E102G Alberta Q549N7/E102K British Columbia Q549N7/E102Q Rush Q549N7/N103S Beth Israel Q549N7/N103Y St Mande Q549N7/F104L Heathrow Q549N7/R105S Camperdown and Duino Q549N7/R105T Sherwood Forest Q549N7/G108R Burke Q549N7/N109K Presbyterian Q549N7/V110M San Diego Q549N7/L111P Showa-Yakushiji Q549N7/V112A Stanmore Q549N7/C113F Canterbury Q549N7/C113R Indianapolis Q549N7/C113Y Yahata Q549N7/L115M Zengcheng Q549N7/L115P Durham-N.C./Brescia Q549N7/A116D Hradec Kralove Q549N7/A116P Madrid Q549N7/H117L Vexin Q549N7/H117Q Hafnia Q549N7/H118P Saitama Q549N7/H118R P-Galveston Q549N7/H118Y Tsukumi Q549N7/G120A Iowa Q549N7/K121E Hijiyama Q549N7/K121I Jianghua Q549N7/K121Q Takamatsu Q549N7/E122A D-Neath Q549N7/E122G St Francis Q549N7/E122K O-Arab Q549N7/E122Q D-Los Angeles/D-Punjab/D- Portugal/D-Chicago/D-Oak Ridge Q549N7/E122V D-Camperdown/Beograd Q549N7/T124I Villejuif Q549N7/P125Q Ty Gard Q549N7/P125R Khartoum Q549N7/P125S Tunis Q549N7/V127A Beirut Q549N7/V127E Hofu Q549N7/V127G Dhonburi/Neapolis Q549N7/Q128E Complutense Q549N7/Q128K Brest Q549N7/A129D J-Guantanamo Q549N7/A130P Crete Q549N7/A130V La Desirade Q549N7/Y131D Wien Q549N7/Y131S Nevers Q549N7/Q132E Camden/Tokuchi/Motown Q549N7/Q132K Shelby/Leslie/Deaconess Q549N7/Q132P Shangai Q549N7/Q132R Sarrebourg Q549N7/K133N Yamagata Q549N7/K133Q K-Woolwich Q549N7/V134L Extredemura Q549N7/V135E North Shore-Caracas Q549N7/A136E Beckman Q549N7/A136P Altdorf Q549N7/G137D Hope Q549N7/A139P Brockton Q549N7/N140D Geelong Q549N7/N140K Hinsdale Q549N7/N140S S-Wake Q549N7/N140Y Aurora Q549N7/A141D Himeji Q549N7/A141T St Jacques: O(2 Q549N7/A141V Puttelange Q549N7/L142R Olmsted Q549N7/A143D Ohio Q549N7/H144D Rancho Mirage Q549N7/H144P Syracuse Q549N7/H144Q Little Rock Q549N7/H144R Abruzzo Q549N7/K145E Mito Q549N7/Y146C Rainier Q549N7/Y146H Bethesda Q549N7/H147D Hiroshima Q549N7/H147L Cowtown Q549N7/H147P York Q549N7/H147Q Kodaira P02042/V2A Niigata P02042/H3L Catania P02042/H3R Sphakia P02042/A11D MUMC/Corleone P02042/V12G Pylos P02042/N13K NYU P02042/G17R Delta' P02042/V21E Roosevelt P02042/A23E Flatbush P02042/G25D Victoria P02042/G26D Yokoshima P02042/E27D Puglia P02042/A28S Yialousa P02042/P37H Metaponto P02042/E44G Agrinio P02042/E44K Melbourne P02042/D48V Parkville P02042/P52R Adria P02042/N58K Campania P02042/G70R Indonesia P02042/A71G Ventimiglia P02042/L76V Grovetown P02042/F86S Etolia P02042/Q88K Montechiaro P02042/L89V Lucania P02042/E91V Honai P02042/C94G Sant' Antioco P02042/V99M Wrens P02042/D100N Canada P02042/R105S Capri P02042/R117C Corfu/Troodos P02042/R117H Coburg P02042/N118D LiangCheng P02042/E122V Manzanares P02042/Q126E Zagreb P02042/V134A Ninive P02042/G137D Babinga P02042/A141V Bagheria P02042/L142P Pelendri P02042/A143D Fitzroy P02042/H147R Monreale P69891/H3Q Macedonia-I P69891/E6K Texas-1 P69891/E7G Izumi/Kotobuki P69891/E7Q Pordenone P69891/T13R Calluna P69891/D23G Kuala Lumpur P69891/G26R Xinjiang P69891/P37R Pendergrass P69891/W38G Cobb P69891/Q40R Bonaire P69891/R41K Woodstock P69891/D44N Fukuyama P69891/A54D Beech island P69891/K62E Jamaica P69891/G73R Iwata P69891/D74H Xin-su P69891/D74N Forest Park P69891/I76T Sardinia/Forest Park P69891/D80N Dammam P69891/D81N Yamaguchi P69891/D81Y Victoria jubilee P69891/H98R Dickinson P69891/E122K Siena/Hull P69891/A129T Baskent P69891/V135M Jiangsu P69892/G2C Malaysia P69892/E6G Meinohama P69892/D8N Auckland P69892/K9E Albaicin P69892/K9Q Albaicin P69892/T13R Heather P69892/W16R Catalonia P69892/G17R Melbourne P69892/K18N Clamart P69892/N20K Ouled Rabah P69892/V21A Bron P69892/E22K Saskatoon P69892/E22Q Fuchu P69892/D23G Urumqi P69892/D23V Granada P69892/G26E Cosenza P69892/E27K Oakland P69892/V35I Tokyo P69892/T39P Bonheiden P69892/R41G Veleta P69892/R41K Austell P69892/F42S TNCY P69892/S45R Lodz P69892/M56R Kingston P69892/K60E Emirates P69892/K60Q Sacromonte P69892/H64L TNCY P69892/H64Y TNCY P69892/K66N Clarke P69892/K67Q Brooklyn P69892/K67R Shanghai P69892/V68M TNCY P69892/G73R Minoo P69892/I76T LesVos/Waynesboro/Charlotte P69892/I76V Coigneres P69892/H78R Kennestone P69892/D81N Marietta P69892/H93Y TNCY P69892/D95N Columbus-Ga P69892/E102K La Grange P69892/K105N Macedonia-II P69892/H118R Malta-1 P69892/F119L Calabria P69892/K121Q Caltech P69892/E122K Carlton P69892/E126A Port-Royal P69892/W131G Poole P69892/H147Y Onoda Q99714/L122V MHBD deficiency Q99714/R130C MHBD deficiency Q99714/N247S MHBD deficiency Q16836/A40T HADH deficiency Q16836/D57E HADH deficiency Q16836/P258L HHF4 P51610/S225N MRX3 Q9Y3Q4/A485V SSS2 Q9Y3Q4/S672R SSS2 Q86VC8/H180R CDLS5 Q86VC8/T311M CDLS5 Q86VC8/G320R CDLS5 Q86VC8/H334R CDLS5 Q86Y56/L795P CILD18 Q14CZ8/L23H MLC2A Q14CZ8/G89D MLC2B Q14CZ8/G89S MLC2B Q14CZ8/R92Q MLC2A Q14CZ8/R92W MLC2B Q14CZ8/R98C MLC2A Q14CZ8/D128N MLC2B Q14CZ8/P148S MLC2A Q14CZ8/S196Y MLC2A Q14CZ8/D211N MLC2A Q14CZ8/R288C MLC2B P22557/K156E XLSA P22557/D159Y XLSA P22557/R170H XLSA P22557/Y199H XLSA P22557/R204Q XLSA P22557/R218H XLSA P22557/E242K XLSA P22557/D263N XLSA P22557/P339L XLSA P22557/R375C XLSA P22557/T388S XLSA P22557/R411C XLSA P22557/R411H XLSA P22557/R448Q XLSA P22557/R452C XLSA P22557/R452G XLSA P22557/R452H XLSA P22557/I476N XLSA P22557/R560H XLSA P22557/R572H XLSA P13716/G133R AHEPP P13716/V153M AHEPP P13716/R240W AHEPP P13716/A274T AHEPP P13716/V275M AHEPP P08397/M18I AIP P08397/R22C AIP P08397/G24S AIP P08397/R26C AIP P08397/R26H AIP P08397/S28N AIP P08397/A31P AIP P08397/A31T AIP P08397/Q34K AIP P08397/Q34P AIP P08397/Q34R AIP P08397/T35M AIP P08397/L42S AIP P08397/A55S AIP P08397/D61N AIP P08397/D61Y AIP P08397/T78P AIP P08397/E80G AIP P08397/L81P AIP P08397/L85R AIP P08397/E86V AIP P08397/V90G AIP P08397/L92P AIP P08397/V93F AIP P08397/S96F AIP P08397/K98R AIP P08397/D99G AIP P08397/D99H AIP P08397/D99N AIP P08397/G111R AIP P08397/I113T AIP P08397/R116Q AIP P08397/R116W AIP P08397/P119L AIP P08397/A122G AIP P08397/V124D AIP P08397/R149L AIP P08397/R149Q AIP P08397/R167Q AIP P08397/R167W AIP P08397/R173Q AIP P08397/R173W AIP P08397/L177R AIP P08397/D178N AIP P08397/R195C AIP P08397/R201W AIP P08397/V202L AIP P08397/E209K AIP P08397/M212V AIP P08397/G216D AIP P08397/Q217H AIP P08397/Q217L AIP P08397/A219D AIP P08397/V222M AIP P08397/E223K AIP P08397/R225G AIP P08397/R225Q AIP P08397/G236S AIP P08397/L238R AIP P08397/L244P AIP P08397/L245R AIP P08397/C247F AIP P08397/C247R AIP P08397/I248IETLLRCI AIP P08397/E250A AIP P08397/E250K AIP P08397/E250Q AIP P08397/E250V AIP P08397/A252T AIP P08397/A252V AIP P08397/L254P AIP P08397/H256N AIP P08397/H256Y AIP P08397/G260D AIP P08397/C261Y AIP P08397/V267M AIP P08397/T269I AIP P08397/A270D AIP P08397/A270G AIP P08397/G274R AIP P08397/L278P AIP P08397/G280R AIP P08397/G335D AIP P08397/G335S AIP P08397/L343P AIP P10746/V3F CEP P10746/L4F CEP P10746/Y19C CEP P10746/S47P CEP P10746/P53L CEP P10746/T62A CEP P10746/A66V CEP P10746/A69T CEP P10746/C73R CEP P10746/V82F CEP P10746/V99A CEP P10746/A104V CEP P10746/I129T CEP P10746/G188R CEP P10746/G188W CEP P10746/EL210HIQSQAQSQAQDN CEP P10746/S212P CEP P10746/I219S CEP P10746/G225S CEP P10746/T228M CEP P10746/L237P CEP P10746/P248Q CEP P36551/V135A HCP P36551/G189S HCP P36551/G197W HCP P36551/E201K HCP P36551/S208F HCP P36551/L214R HCP P36551/P249R HCP P36551/P249S HCP P36551/G279R HCP P36551/G280R HCP P36551/H295D HCP P36551/R328C HCP P36551/R331W HCP P36551/K404E HCP P36551/W427R HCP P36551/R447C HCP P22830/G55C EPP P22830/P62R EPP P22830/I71K EPP P22830/Q139L EPP P22830/S151P EPP P22830/E178K EPP P22830/L182R EPP P22830/I186T EPP P22830/Y191H EPP P22830/P192T EPP P22830/C236Y EPP P22830/F260L EPP P22830/S264L EPP P22830/M267I EPP P22830/T283I EPP P22830/M288K EPP P22830/P334L EPP P22830/V362G EPP P22830/K379N EPP P22830/H386P EPP P22830/C406S EPP P22830/C406Y EPP P22830/NPVC408KSVG EPP P22830/F417S EPP P05546/R208H THPH10 P05546/E447K THPH10 P05546/P462L THPH10 P81172/R59G HFE2B P81172/C70R HFE2B P81172/G71D HFE2B P81172/C78Y HFE2B Q9BYE0/R25W SCDO4 Q9BYE0/I58V SCDO4 Q9BYE0/D186Y SCDO4 Q9UBX0/Q6H CPHD5 Q9UBX0/I26T CPHD5 Q9UBX0/E149K GHDPA Q9UBX0/R160C SOD Q9UBX0/S170L SOD Q9UBX0/T181A GHDPA P06865/P25S GM2G1 P06865/L39R GM2G1 P06865/L127F GM2G1 P06865/L127R GM2G1 P06865/R166G GM2G1 P06865/R170Q GM2G1 P06865/R170W GM2G1 P06865/R178C GM2G1 P06865/R178H GM2G1 P06865/R178L GM2G1 P06865/Y180H GM2G1 P06865/V192L GM2G1 P06865/N196S GM2G1 P06865/K197T GM2G1 P06865/V200M GM2G1 P06865/H204R GM2G1 P06865/S210F GM2G1 P06865/F211S GM2G1 P06865/S226F GM2G1 P06865/R247W HEXA pseudodeficiency P06865/R249W HEXA pseudodeficiency P06865/G250D GM2G1 P06865/G250S GM2G1 P06865/R252H GM2G1 P06865/R252L GM2G1 P06865/D258H GM2G1 P06865/G269D GM2G1 P06865/G269S GM2G1 P06865/S279P GM2G1 P06865/N295S GM2G1 P06865/M301R GM2G1 P06865/D314V GM2G1 P06865/I335F GM2G1 P06865/V391M GM2G1 P06865/W420C GM2G1 P06865/G454S GM2G1 P06865/G455R GM2G1 P06865/C458Y GM2G1 P06865/W474C GM2G1 P06865/E482K GM2G1 P06865/L484Q GM2G1 P06865/W485R GM2G1 P06865/R499C GM2G1 P06865/R499H GM2G1 P06865/R504C GM2G1 P06865/R504H GM2G1 P07686/S62L GM2G2 P07686/S255R GM2G2 P07686/C309Y GM2G2 P07686/P417L GM2G2 P07686/Y456S GM2G2 P07686/P504S GM2G2 P07686/R505Q GM2G2 P07686/C534Y GM2G2 P07686/A543T GM2G2 Q96KU7/R6S HFE Q96KU7/G43D HFE Q96KU7/S65C HFE Q96KU7/R66C HFE Q96KU7/G93R HFE Q96KU7/I105T HFE Q96KU7/Q127H HFE Q96KU7/A176V HFE Q96KU7/R224G HFE Q96KU7/C282Y HFE Q96KU7/Q283P HFE Q96KU7/V295A HFE Q96KU7/R330M HFE Q93099/L25P AKU Q93099/E42A AKU Q93099/W60G AKU Q93099/Y62C AKU Q93099/W97G AKU Q93099/A122D AKU Q93099/D153G AKU Q93099/G161R AKU Q93099/E168K AKU Q93099/S189I AKU Q93099/I216T AKU Q93099/R225H AKU Q93099/F227S AKU Q93099/P230S AKU Q93099/P230T AKU Q93099/G270R AKU Q93099/D291E AKU Q93099/V300G AKU Q93099/R330S AKU Q93099/M368V AKU Q93099/H371R AKU Q68CP4/C104F MPS3C Q68CP4/L165P MPS3C Q68CP4/I280R MPS3C Q68CP4/G290R MPS3C Q68CP4/N301K MPS3C Q68CP4/P311L MPS3C Q68CP4/R372C MPS3C Q68CP4/R372H MPS3C Q68CP4/W431C MPS3C Q68CP4/G452S MPS3C Q68CP4/E499K MPS3C Q68CP4/M510K MPS3C Q68CP4/G514E MPS3C Q68CP4/A517E MPS3C Q68CP4/S546F MPS3C Q68CP4/S567C MPS3C Q68CP4/S569L MPS3C Q68CP4/D590V MPS3C Q68CP4/P599L MPS3C Q6NVY1/Y122C HIBCHD P49773/R37P NMAN P49773/H51R NMAN P49773/C84R NMAN P49773/G89V NMAN P49773/G93D NMAN P49773/H112N NMAN Q96RW7/Q5345R ARMD1 P54868/V54M HMGCS deficiency P54868/Y167C HMGCS deficiency P54868/F174L HMGCS deficiency P54868/G212R HMGCS deficiency P54868/R500H HMGCS deficiency P35914/E37K HMGCLD P35914/R41Q HMGCLD P35914/D42E HMGCLD P35914/D42G HMGCLD P35914/D42H HMGCLD P35914/K48N HMGCLD P35914/V70L HMGCLD P35914/S75R HMGCLD P35914/S142F HMGCLD P35914/R165Q HMGCLD P35914/C174Y HMGCLD P35914/F192S HMGCLD P35914/I200F HMGCLD P35914/S201Y HMGCLD P35914/G203E HMGCLD P35914/D204N HMGCLD P35914/H233R HMGCLD P35914/L263P HMGCLD P35914/E279K HMGCLD P05114/M1MLGRREEWQRQGSPVSRRLSARRGPQAPGTRLPRRH RNA edited version P20823/L12H MODY3 P20823/G20R MODY3 P20823/G31D MODY3 P20823/E48K IDDM20 P20823/L107R MODY3 P20823/K117E MODY3 P20823/Y122C MODY3 P20823/I128N MODY3 P20823/P129T MODY3 P20823/R131Q MODY3 P20823/R131W MODY3 P20823/V133M MODY3 P20823/S142F MODY3 P20823/H143Y MODY3 P20823/K158N MODY3 P20823/R159Q MODY3 P20823/R159W MODY3 P20823/A161T MODY3 P20823/R200W MODY3 P20823/R203C MODY3 P20823/R203H MODY3 P20823/K205Q MODY3 P20823/R229Q MODY3 P20823/C241G IDDM20 and MODY3 P20823/V259D MODY3 P20823/T260M MODY3 P20823/R263C MODY3 P20823/R271W MODY3 P20823/R272C NIDDM P20823/R272H IDDM20 and MODY3 P20823/G415R IDDM20 P20823/S432C MODY3 P20823/P447L MODY3 P20823/P519L MODY3 P20823/T537R MODY3 P20823/R583G IDDM20 P20823/S594I MODY3 P20823/I618M MODY3 P20823/E619K MODY3 P20823/T620I MODY3 P35680/S36F RCAD P35680/V61G RCAD P35680/G76C RCAD P35680/V110G RCAD P35680/R112P RCAD P35680/Q136E RCAD P35680/S148L RCAD P35680/S148W RCAD P35680/S151P RCAD P35680/H153N RCAD P35680/K156E RCAD P35680/K164Q RCAD P35680/R165H RCAD P35680/R235Q RCAD P35680/A241T RCAD P35680/E260D RCAD P35680/R276G RCAD P35680/R276Q RCAD P35680/G285D RCAD P35680/R295C RCAD P35680/R295H RCAD P35680/R295P RCAD P35680/G370S RCAD P35680/S465R NIDDM Q6B4V6/R136W MODY1 Q6B4V6/E285Q MODY1 Q6B4V6/V402I MODY1 Q86XE5/C257G HP3 Q86XE5/G287V HP3 P32754/Y160C TYRO3 P32754/A268V TYRO3 P32754/I335M TYRO3 P00492/G7D GOUT-HPRT P00492/V8G LNS P00492/G16D LNS P00492/G16S GOUT-HPRT P00492/D20V GOUT-HPRT P00492/C23W GOUT-HPRT P00492/L41P LNS P00492/I42F LNS P00492/I42T LNS P00492/MD43RN LNS P00492/R45K LNS P00492/R48H GOUT-HPRT P00492/A50P LNS P00492/A50V LNS P00492/R51G GOUT-HPRT P00492/R51P LNS P00492/D52G Edinburgh P00492/V53A GOUT-HPRT P00492/V53M GOUT-HPRT P00492/M54L LNS P00492/M57T LNS P00492/G58R GOUT-HPRT P00492/G70E LNS P00492/G71R LNS P00492/F74L LNS P00492/L78V GOUT-HPRT P00492/D80V GOUT-HPRT P00492/S104R GOUT-HPRT P00492/S110L GOUT-HPRT P00492/V130D LNS P00492/L131S LNS P00492/I132M GOUT-HPRT P00492/I132T LNS P00492/D135G GOUT-HPRT P00492/M143K LNS P00492/M143MA LNS P00492/A161S GOUT-HPRT P00492/S162R LNS P00492/T168I GOUT-HPRT P00492/P176L LNS P00492/D177V LNS P00492/D177Y LNS P00492/VG179GR GOUT-HPRT P00492/I183T GOUT-HPRT P00492/V188A Japan P00492/D194E GOUT-HPRT P00492/D194N LNS P00492/Y195C GOUT-HPRT P00492/F199V LNS P00492/D201G GOUT-HPRT P00492/D201N GOUT-HPRT P00492/D201Y LNS P00492/H204D LNS P00492/H204R LNS P00492/C206Y LNS Q969F9/R397W HPS3 Q9UPZ3/L624R HPS5 Q9UPZ3/T1098I HPS5 Q9UC67/I247T AHP P04196/G103E THPH11 P04196/C241R THPH11 Q9ULV5/A19D CTRCT5 Q9ULV5/R73H CTRCT5 Q9ULV5/I86V CTRCT5 Q9ULV5/L114P CTRCT5 Q9ULV5/R119C CTRCT5 Q9UC36/R127W HMN2B Q9UC36/S135F CMT2F and HMN2B Q9UC36/R136W CMT2F Q9UC36/T151I HMN2B Q9UC36/T164A CMT2F Q9UC36/P182L HMN2B Q12988/R7S HMN2C Q9UJY1/K141E HMN2A Q9UJY1/K141N HMN2A and CMT2L Q99081/L600P CRS3 Q99081/Q614E CRS3 Q92743/A252T CARASIL Q92743/V297M CARASIL O43464/G399S PARK13 P42357/R206T HISTID P42357/R208L HISTID P42357/P259L HISTID P42357/R322P HISTID Q96N76/L70P UROD Q96N76/R450C UROD Q9NSL6/R2981H MRXS-Turner Q9NSL6/R4013W MRXS-Turner Q9NSL6/R4187C MRXS-Turner P31271/A125AAAAAAA HFGS P31271/A129AAAAAAAAA HFGS P31271/Q371L GUTTS P31271/N372H HFGS O43364/Q186K MHICP P14653/R207C HCFP3 P28358/M319K CVT P35453/A57AAAAAAAAAA SPD1 and in syndactyly type 5 P35453/R306W SPD1 P35453/S316C BDE1 and BDD P35453/I322L BDE1 P35453/Q325R SDTY5 Q9NNZ5/L529S HK deficiency Q9NNZ5/T680S HK deficiency P35557/R36W MODY2 P35557/A53S MODY2 P35557/E70K MODY2 P35557/G80A MODY2 P35557/G80S MODY2 P35557/Y108H MODY2 P35557/I110T MODY2 P35557/A119D MODY2 P35557/S131P MODY2 P35557/H137R MODY2 P35557/F150S MODY2 P35557/L164P MODY2 P35557/T168P MODY2 P35557/G175R MODY2 P35557/V182M MODY2 P35557/A188T MODY2 P35557/V203A MODY2 P35557/T209M MODY2 P35557/M210K MODY2 P35557/M210T MODY2 P35557/C213R MODY2 P35557/E221K MODY2 P35557/V226M MODY2 P35557/G227C MODY2 P35557/T228M MODY2 P35557/E256K MODY2 P35557/W257R MODY2 P35557/A259T MODY2 P35557/G261E MODY2 P35557/G261R MODY2 P35557/E279Q MODY2 P35557/G299R MODY2 P35557/E300K MODY2 P35557/E300Q MODY2 P35557/L309P MODY2 P35557/S336L MODY2 P35557/V367M MODY2 P35557/C382Y MODY2 P35557/A384T MODY2 P35557/G385V MODY2 P35557/R392C MODY2 P35557/K414E MODY2 P35557/V455M HHF3 Q8NFK8/E268K MPS9 Q9BYI3/L53P HLD5 Q96M11/D211G HLS1 Q13651/T84I IBD28 Q13651/G141R IBD28 Q14626/P221R CRSDA Q14626/S245C CRSDA Q14626/R296W CRSDA Q14626/S308STWS CRSDA P42701/R213W MSMD Q8NFM7/K131T HH18 Q8NFM7/K162R HH18 Q8NFM7/P306S HH18 Q8NFM7/Y379C HH18 Q8NFM7/S468L HH18 Q8NFM7/P577Q HH18 Q8NFM7/A735V HH18 Q9UBH0/L27P PSORP Q9UBH0/R48W PSORP Q9UBH0/S113L PSORP Q9UBH0/T123R PSORP Q16270/R78G RNA edited version Q16270/K95R RNA edited version Q96FE0/T118A HAE Q96FE0/C130Y HAE Q96FE0/Y154C HAE Q96FE0/S170F HAE Q96FE0/G184R HAE Q96FE0/L230P HAE Q96FE0/I232K HAE Q96FE0/W299R HAE Q96FE0/G345R HAE Q96FE0/T394P HAE Q96FE0/D408V HAE Q96FE0/G429R HAE Q96FE0/L430Q HAE Q96FE0/M441T HAE Q96FE0/L447P HAE Q96FE0/V454E HAE Q96FE0/A456E HAE Q96FE0/A458T HAE Q96FE0/A458V HAE Q96FE0/A465V HAE Q96FE0/R466C HAE Q96FE0/R466H HAE Q96FE0/R466L HAE Q96FE0/R466S HAE Q96FE0/T467P HAE Q96FE0/V473E HAE Q96FE0/V473G HAE Q96FE0/V473M HAE Q96FE0/F477S HAE Q96FE0/L481P HAE Q96FE0/L481R HAE Q96FE0/P489R HAE Q96FE0/G493E HAE Q96FE0/D497G HAE Q96FE0/P498R HAE Q96FE0/P498S HAE P05362/K56M Kilifi Q14773/Q100R LW(B Q9UPZ9/R272Q ECO Q9NUZ0/L132P RP46 P48735/R140G D2HGA2 P48735/R140Q D2HGA2 P22304/L41P MPS2 P22304/D45N MPS2 P22304/R48P MPS2 P22304/Y54D MPS2 P22304/N63D MPS2 P22304/A68E MPS2 P22304/S71N MPS2 P22304/S71R MPS2 P22304/L73F MPS2 P22304/A79E MPS2 P22304/A82E MPS2 P22304/A82V MPS2 P22304/A85S MPS2 P22304/A85T MPS2 P22304/P86L MPS2 P22304/P86Q MPS2 P22304/P86R MPS2 P22304/S87N MPS2 P22304/R88C MPS2 P22304/R88G MPS2 P22304/R88H MPS2 P22304/R88L MPS2 P22304/R88P MPS2 P22304/V89F MPS2 P22304/L92P MPS2 P22304/G94D MPS2 P22304/R95G MPS2 P22304/R95T MPS2 P22304/L102R MPS2 P22304/Y108C MPS2 P22304/Y108S MPS2 P22304/N115Y MPS2 P22304/S117Y MPS2 P22304/T118I MPS2 P22304/P120H MPS2 P22304/P120R MPS2 P22304/Q121H MPS2 P22304/Q121R MPS2 P22304/E125V MPS2 P22304/S132W MPS2 P22304/G134R MPS2 P22304/K135N MPS2 P22304/K135R MPS2 P22304/H138D MPS2 P22304/G140V MPS2 P22304/S143F MPS2 P22304/D148H MPS2 P22304/H159P MPS2 P22304/P160R MPS2 P22304/N181I MPS2 P22304/L182P MPS2 P22304/C184F MPS2 P22304/C184W MPS2 P22304/L196S MPS2 P22304/D198G MPS2 P22304/A205P MPS2 P22304/L221P MPS2 P22304/G224E MPS2 P22304/Y225D MPS2 P22304/K227M MPS2 P22304/K227Q MPS2 P22304/P228L MPS2 P22304/P228T MPS2 P22304/H229R MPS2 P22304/H229Y MPS2 P22304/P231L MPS2 P22304/D252N MPS2 P22304/L259P MPS2 P22304/Y264N MPS2 P22304/N265I MPS2 P22304/P266H MPS2 P22304/P266R MPS2 P22304/D269V MPS2 P22304/Q293H MPS2 P22304/S299I MPS2 P22304/D308E MPS2 P22304/D308N MPS2 P22304/T309A MPS2 P22304/R313C MPS2 P22304/L314P MPS2 P22304/S333L MPS2 P22304/D334G MPS2 P22304/D334N MPS2 P22304/H335R MPS2 P22304/G336E MPS2 P22304/G336R MPS2 P22304/W337R MPS2 P22304/L339R MPS2 P22304/G340D MPS2 P22304/E341K MPS2 P22304/H342Y MPS2 P22304/W345C MPS2 P22304/A346D MPS2 P22304/A346V MPS2 P22304/K347I MPS2 P22304/K347Q MPS2 P22304/K347T MPS2 P22304/Y348H MPS2 P22304/S349I MPS2 P22304/P358R MPS2 P22304/L403R MPS2 P22304/L410P MPS2 P22304/C422G MPS2 P22304/C422R MPS2 P22304/C432Y MPS2 P22304/E434K MPS2 P22304/Q465P MPS2 P22304/P467L MPS2 P22304/R468G MPS2 P22304/R468L MPS2 P22304/R468Q MPS2 P22304/R468W MPS2 P22304/P469H MPS2 P22304/D478G MPS2 P22304/D478Y MPS2 P22304/P480L MPS2 P22304/P480Q MPS2 P22304/P480R MPS2 P22304/I485K MPS2 P22304/I485R MPS2 P22304/MG488IA MPS2 P22304/Y490S MPS2 P22304/S491F MPS2 P22304/W502C MPS2 P22304/W502S MPS2 P22304/E521K MPS2 P22304/E521V MPS2 P22304/Y523C MPS2 P35475/G51D MPS1H P35475/A75T MPS1H P35475/Y76C MPS1S P35475/A79V MPS1H/S P35475/H82P MPS1H/S P35475/G84R MPS1H/S P35475/R89Q MPS1S P35475/R89W MPS1S P35475/T103P MPS1H P35475/M133I MPS1H P35475/E178K MPS1H/S P35475/E182K MPS1H P35475/F188L MPS1H/S P35475/G208D MPS1H P35475/L218P MPS1H P35475/G219E MPS1S P35475/L238Q MPS1H/S P35475/S260F MPS1H/S P35475/G265R MPS1H/S P35475/E276K MPS1H/S and MPS1S P35475/A300T IDUA pseudodeficiency P35475/W306L MPS1S P35475/D315Y MPS1 P35475/A327P MPS1H and MPS1H/S P35475/L346R MPS1H/S P35475/N348K MPS1S P35475/D349N MPS1H P35475/D349Y MPS1H P35475/N350I MPS1S P35475/R363C MPS1H/S P35475/T366P MPS1H P35475/Q380R MPS1H/S P35475/R383H MPS1S P35475/P385R MPS1H P35475/T388R MPS1H P35475/L396LALL MPS1H P35475/L396P MPS1 P35475/G409R MPS1H P35475/S423R MPS1S and MPS1H/S P35475/A436P MPS1H/S P35475/R489P MPS1H P35475/L490P MPS1H/S and MPS1S P35475/R492P MPS1S P35475/P496L MPS1H/S P35475/P496R MPS1H/S P35475/M504T MPS1H/S P35475/P533R MPS1H and MPS1H/S P35475/L535F MPS1H/S P35475/F602I MPS1H/S P35475/R619G MPS1H/S P35475/W626R MPS1H/S P35475/R628P MPS1H/S Q9HBG6/W7C CED1 Q9HBG6/S322F CED1 Q9HBG6/V502G CED1 Q96RY7/G212R MZSDS Q96RY7/I233M MZSDS Q96RY7/V292M MZSDS Q96RY7/Y311C MZSDS Q96RY7/G522E MZSDS Q96RY7/R576Q MZSDS Q96RY7/E664K MZSDS Q5HYG0/A502V PARK18 Q5HYG0/R1205H PARK18 Q9P2H3/H105Q ATD2 Q9P2H3/A701P ATD2 P27352/S46L IFD P08069/R138Q IGF1RES P08069/K145N IGF1RES P08069/R739Q IGF1RES P01877/P93S A2M(2 P01877/P102R A2M(2 P01877/F279Y A2M(2 P01877/D296E A2M(2 P01877/V326I A2M(2 P01877/V335A A2M(2 P01857/K97R G1M(3 P01857/D239E G1M(non-1 P01857/L241M G1M(non-1 P01834/W40R IGKCD P01834/V83L INV(1,2 Q8N6C5/S765N CHTE Q8N6C5/S858F CHTE Q8N6C5/C942R CHTE Q14623/P46L ACFD Q14623/E95K BDA1 Q14623/D100E BDA1 Q14623/D100N BDA1 Q14623/E131K BDA1 Q14623/V190A ACFD P25963/S32I ADEDAID Q96PD4/S95L CANDF6 Q9HBE5/R201L IL21RID P31785/D39N XSCID P31785/C62G XSCID P31785/E68G XSCID P31785/E68K XSCID P31785/N84K XSCID P31785/Y89C XSCID P31785/Y105C XSCID P31785/G114D XSCID P31785/C115F XSCID P31785/C115R XSCID P31785/H123P XSCID P31785/Y125N XSCID P31785/Q144P XSCID P31785/I153N XSCID P31785/A156V XSCID P31785/L162H XSCID P31785/L172P XSCID P31785/L172Q XSCID P31785/C182R XSCID P31785/L183S XSCID P31785/R222C XCID P31785/R224W XSCID P31785/R226C XSCID P31785/R226H XSCID P31785/F227C XSCID P31785/L230P XSCID P31785/C231Y XSCID P31785/G232R XSCID P31785/W237WQHW XSCID P31785/W240C XSCID P31785/S241I XSCID P31785/M270R XSCID P31785/R285Q XSCID P31785/L293Q XCID Q8WYJ0/S489F PLCA2 Q9H185/S786P 1.8% of the population Q6NWM3/T66I T(- Q6NWM3/P132S T(- Q6NWM3/I138V T(- Q86SU0/R97Q DFNB42 Q86SU0/R453Q DFNB42 C9JV30/R105W LCA11 C9JV30/T116M RP10 C9JV30/N198K LCA11 C9JV30/R224P RP10 C9JV30/D226N RP10 C9JV30/V268I RP10 C9JV30/H372P RP10 Q9NX62/D177N CDP-GPAPP Q9NX62/T183P CDP-GPAPP Q9BZV3/F124L MACLP-IMPG2 Q27J81/A13T FSGS5 Q27J81/L42P FSGS5 Q27J81/C104F CMTDIE Q27J81/C104R CMTDIE Q27J81/C104W CMTDIE Q27J81/L128P CMTDIE Q27J81/L132R CMTDIE Q27J81/E184K FSGS5 Q27J81/S186P FSGS5 Q27J81/L198R FSGS5 Q27J81/R214H FSGS5 Q27J81/R218Q FSGS5 Q27J81/R218W FSGS5 Q27J81/E220K FSGS5 Q27J81/L245P FSGS5 Q9UIJ3/A335D HNSCC Q9UIJ3/C358S HNSCC Q9UIJ3/N359S HNSCC Q9HC99/D20G HNSCC P15260/C77Y MSMD P15260/I87T MSMD P38484/T168N MSMD Q9NRR6/R378C JBTS1 Q9NRR6/R435Q JBTS1 Q9NRR6/R512W JBTS1 Q9NRR6/R515W JBTS1 Q9NRR6/R563H JBTS1 Q9NRR6/K580E JBTS1 P51460/P93L CRYPTO P51460/R102C CRYPTO P51460/N110K CRYPTO P06213/N42K RMS P06213/V55A LEPRCH P06213/G58R LEPRCH P06213/D86G IRAN type A P06213/L89P IRAN type A P06213/R113P LEPRCH P06213/A119V LEPRCH P06213/L120Q LEPRCH P06213/I146M LEPRCH P06213/V167L IRAN type A P06213/P220L Ins resistance P06213/H236R LEPRCH P06213/L260P LEPRCH P06213/R279C IRAN type A P06213/R279H IRAN type A P06213/C280Y IRAN type A P06213/C301Y LEPRCH P06213/S350L RMS and LEPRCH P06213/G386S RMS P06213/G393R LEPRCH P06213/F409V IRAN type A P06213/W439S LEPRCH P06213/N458D LEPRCH P06213/K487E LEPRCH P06213/N489S IRAN type A P06213/R762S IRAN type A P06213/T858A NIDDM P06213/I925T LEPRCH P06213/R926W LEPRCH P06213/T937M LEPRCH P06213/P997T RMS P06213/R1020Q IRAN type A P06213/G1035V IRAN type A P06213/A1055V IRAN type A P06213/A1075D IRAN type A P06213/R1119W LEPRCH P06213/I1143T RMS P06213/R1158Q NIDDM P06213/R1158W RMS P06213/A1161T IRAN type A P06213/A1162E IRAN type A P06213/R1191Q NIDDM P06213/R1201Q HHF5 and IRAN type A P06213/R1201W LEPRCH and RMS P06213/P1205L IRAN type A P06213/E1206D IRAN type A P06213/E1206K LEPRCH P06213/W1220L IRAN type A P06213/W1227S IRAN type A P06213/R1378Q IRAN type A P01308/R6C MODY10 P01308/R6H MODY10 P01308/A24D PNDM P01308/H29D PNDM P01308/G32R PNDM P01308/G32S PNDM P01308/H34D FHPRI P01308/L35P PNDM P01308/C43G PNDM P01308/R46Q MODY10 P01308/G47V PNDM P01308/F48C PNDM P01308/F49L Chicago P01308/R55C IDDM2 P01308/G84R PNDM P01308/R89C PNDM P01308/R89H FHPRI P01308/R89L FHPRI P01308/G90C PNDM P01308/V92L Wakayama P01308/C96S PNDM P01308/C96Y PNDM P01308/S101C PNDM P01308/Y103C PNDM P01308/Y108C PNDM Q9Y283/P482R NPHP2 Q9Y283/L493S NPHP2 Q5JU85/R349C MRX1 Q5JU85/R748Q MRX1 Q5JU85/Q791P MRX1 Q5JU85/R853W MRX1 Q9Y5U9/V21G MEDS Q9Y5U9/L78P MEDS P10914/M8L GASC P10914/W11R GASC O14896/A2V VWS1 O14896/R6C VWS1 O14896/A16V VWS1 O14896/V18A VWS1 O14896/V18M VWS1 O14896/L22P VWS1 and PPS O14896/P39A VWS1 O14896/R45Q VWS1 O14896/W60G PPS O14896/A61G VWS1 O14896/T64I VWS1 O14896/K66T PPS O14896/G70R VWS1 O14896/P76S VWS1 O14896/Q82K PPS O14896/R84C PPS O14896/R84G VWS1 O14896/R84H PPS O14896/R84L PPS O14896/N88H VWS1 O14896/K89E PPS O14896/S90G VWS1 O14896/D98H VWS1 O14896/T100A VWS1 O14896/R250Q VWS1 O14896/L251P VWS1 O14896/Q273R VWS1 O14896/FTSKLLD290L VWS1 O14896/L294P VWS1 O14896/V297I VWS1 O14896/K320E VWS1 O14896/V321M VWS1 O14896/G325E VWS1 O14896/R339I VWS1 O14896/L345P VWS1 O14896/C347F VWS1 O14896/E349V VWS1 O14896/F369S VWS1 and OFC6 O14896/C374W VWS1 O14896/K388E VWS1 O14896/P396S VWS1 O14896/R400W VWS1 O14896/S424L PPS O14896/D430N PPS Q02556/T80A IRF8DD Q02556/K108E IRF8DR P78508/R65P SESAMES P78508/G77R SESAMES P78508/C140R SESAMES P78508/T164I SESAMES P78508/A167V SESAMES P78508/R297C SESAMES Q14654/R34H HHF2 Q14654/F35L PNDM Q14654/F35V PNDM Q14654/G40D HHF2 Q14654/C42R TNDM3 Q14654/H46Y PNDM Q14654/R50P PNDM Q14654/R50Q PNDM Q14654/Q52R PNDM Q14654/G53D PNDM Q14654/G53R TNDM3 Q14654/G53S TNDM3 Q14654/F55L HHF2 Q14654/V59G PNDM Q14654/V59M PNDM Q14654/K67N HHF2 Q14654/W91R HHF2 Q14654/A101D HHF2 Q14654/S116P HHF2 Q14654/G134A HHF2 Q14654/R136L HHF2 Q14654/L147P HHF2 Q14654/L164P PNDM Q14654/C166Y PNDM Q14654/K170N PNDM Q14654/K170R PNDM Q14654/K170T PNDM Q14654/I182V TNDM3 Q14654/R201C PNDM Q14654/R201H PNDM Q14654/R201L PNDM Q14654/P254L HHF2 Q14654/H259R HHF2 Q14654/P266L HHF2 Q14654/I296L PNDM Q14654/R301H HHF2 Q14654/E322K PNDM Q14654/Y330C PNDM Q14654/Y330S PNDM Q14654/F333I PNDM Q14654/L355P NIDDM Q14654/P380PKP NIDDM O60928/Q117R LCA16 O60928/R162W SVD O60928/L241P LCA16 B7U540/T140M TTPP2 B7U540/R205H TTPP2 B7U540/T354M TTPP2 B7U540/K366R TTPP2 P48048/V72E BS2 P48048/D74Y BS2 P48048/W99C BS2 P48048/D108H BS2 P48048/P110L BS2 P48048/V122E BS2 P48048/N124K BS2 P48048/G167E BS2 P48048/A198T BS2 P48048/A214V BS2 P48048/S219R BS2 P48048/V315G BS2 P48048/M357T BS2 P63252/C54F LQT7 P63252/R67W LQT7 P63252/D71V LQT7 P63252/T75R LQT7 P63252/V93I ATFB9 P63252/D172N SQT3 P63252/P186L LQT7 P63252/N216H LQT7 P63252/R218W LQT7 P63252/G300V LQT7 P63252/V302M LQT7 P63252/T305P LQT7 P48544/G151E FH3 P48544/G151R FH3 and APA P48544/T158A FH3 P48544/L168R APA P48544/G387R LQT13 Q15842/V346I SIDS P35568/S1043Y NIDDM P35568/C1095Y NIDDM P78411/A150P HMMS P78411/N166K HMMS P00995/L12F PCTT P00995/L14P PCTT P00995/N34S PCTT and TCP A4D126/A122P MDDGA7 A4D126/R126H MDDGA7 A4D126/D156N MDDGA7 A4D126/M213R MDDGA7 A4D126/A216D MDDGA7 A4D126/Y226H MDDGA7 A4D126/T238I MDDGA7 P08514/L86P GT P08514/A139V GT P08514/C161W GT P08514/Y174H GT P08514/P176A GT P08514/P176L GT P08514/F202C GT P08514/T207I GT P08514/L214P GT P08514/F222L GT P08514/G267E GT P08514/G273D GT P08514/F320S GT P08514/V329F GT P08514/E355K GT P08514/R358H GT P08514/G380D GT P08514/I405T GT P08514/G412R GT P08514/G449D GT P08514/A581D GT P08514/I596T GT P08514/C705R GT P08514/L752V GT P08514/R755P GT P08514/Q778P GT P08514/L847P GT P08514/V934F GT P08514/P943L GT P08514/S957L GT P08514/V982M GT P08514/R1026Q GT and BDPLT16 P08514/R1026W BDPLT16 P26006/R628P ILNEB P05107/D128N LAD1 P05107/D128Y LAD1 P05107/S138P LAD1 P05107/L149P LAD1 P05107/G169R LAD1 P05107/P178L LAD1 P05107/K196T LAD1 P05107/A239T LAD1 P05107/G273R LAD1 P05107/G284S LAD1 P05107/D300V LAD1 P05107/N351S LAD1 P05107/R586W LAD1 P05107/R593C LAD1 P05107/G716A LAD1 P05106/C64Y GT P05106/R119W GT P05106/Y141C GT P05106/L143W GT P05106/M144R GT P05106/D145N GT P05106/D145Y GT P05106/M150V GT P05106/S188L GT P05106/L222P GT P05106/R240Q GT P05106/R240W GT P05106/R242Q GT P05106/D243V GT P05106/G247D GT P05106/K279M GT P05106/L288P GT P05106/H306P GT P05106/M321L GT P05106/I330N GT P05106/C400Y GT P05106/C532Y GT P05106/C568R GT P05106/C586F GT P05106/C586R GT P05106/G598S GT P05106/C601R GT P05106/G605S GT P05106/D749H BDPLT16 P05106/S778P GT P16144/C38R EB-PA P16144/C61Y EB-PA P16144/D131Y EB-PA P16144/L156P EB-PA P16144/C245G EB-PA P16144/R252C EB-PA P16144/G273D EB-PA P16144/R283C EB-PA P16144/V325D EB-PA P16144/L336P EB-PA P16144/C562R EB-PA P16144/G931D GABEB P16144/R1225H EB-PA P16144/R1281W EB-PA H3BPQ1/G358V PTHS H3BPQ1/D535G PTHS H3BPQ1/R565W PTHS H3BPQ1/R572G PTHS H3BPQ1/R572Q PTHS H3BPQ1/R574H PTHS H3BPQ1/R574P PTHS H3BPQ1/R576Q PTHS H3BPQ1/R576W PTHS H3BPQ1/R578H PTHS H3BPQ1/R578P PTHS H3BPQ1/A583P PTHS H3BPQ1/A610V PTHS Q08881/R335W LPFS1 Q9Y287/S266FNLFLNSQEKHY CAA-ITM2B2 Q9Y287/S266SRTVKKNIIEEN CAA-ITM2B1 Q9H3H8/P32T ITPAD Q14643/N602D SCA29 Q14643/P1059L SCA15 Q14643/V1562M SCA29 P26440/L42P IVA P26440/R50P IVA P26440/D69N IVA P26440/A94G IVA P26440/G120R IVA P26440/I196M IVA P26440/G199V IVA P26440/L276P IVA P26440/A311V IVA P26440/C357R IVA P26440/V371A IVA P26440/R392C IVA P26440/Y400C IVA P26440/R411L IVA Q7Z7D7/R101W TDH4 Q7Z7D7/FI105L TDH4 Q7Z7D7/I116T TDH4 P78504/A31V ALGS1 P78504/G33D ALGS1 P78504/G33S ALGS1 P78504/G33V ALGS1 P78504/L37S ALGS1 P78504/I39S ALGS1 P78504/L40P ALGS1 P78504/F75S ALGS1 P78504/C78S ALGS1 P78504/L79H ALGS1 P78504/C92R ALGS1 P78504/C92Y ALGS1 P78504/I120N ALGS1 P78504/P123S ALGS1 P78504/A127T ALGS1 P78504/P129R ALGS1 P78504/I152T ALGS1 P78504/A155P ALGS1 P78504/P163L ALGS1 P78504/P163R ALGS1 P78504/Y181N ALGS1 P78504/R184C ALGS1 P78504/R184G ALGS1 P78504/R184H ALGS1 P78504/R184L ALGS1 P78504/C187S ALGS1 P78504/C187Y ALGS1 P78504/C220F ALGS1 P78504/W224C ALGS1 P78504/C229G ALGS1 P78504/C229Y ALGS1 P78504/R252G ALGS1 P78504/G256S ALGS1 P78504/P269L ALGS1 P78504/C271R ALGS1 P78504/G274D TOF P78504/C284F ALGS1 P78504/W288C ALGS1 P78504/G386R ALGS1 P78504/C438F ALGS1 P78504/N504S ALGS1 P78504/C693Y ALGS1 P78504/C714Y ALGS1 P78504/C731S ALGS1 P78504/C740R ALGS1 P78504/C753R ALGS1 P78504/R889Q ALGS1 P78504/C902S ALGS1 P78504/C911Y ALGS1 P78504/S913R ALGS1 P78504/R937Q ALGS1 P78504/VR1055G ALGS1 O60674/K607N AML O60674/V617F PV, THCYT3 and AML O60674/V617I THCYT3 P52333/Y100C T(- P52333/P151R T(- P52333/D169E T(- P52333/E481G T(- P52333/R582W T(- P52333/G589S T(- P52333/C759R T(- P52333/L910S T(- Q9BX67/E116K HDBSCC Q9BX67/C219Y HDBSCC Q9UQF2/S59N NIDDM Q9BR39/S101R CMH17 Q9BR39/Y141H CMH17 Q9BR39/S165F CMH17 P13645/M150R EHK P13645/N154H EHK P13645/R156C EHK P13645/R156H EHK P13645/R156P EHK P13645/R156S EHK P13645/Y160D EHK P13645/Y160N EHK P13645/Y160S EHK P13645/L161S EHK P13645/R422E AEI P13645/K439E EHK P13645/L442Q EHK P13645/I446T AEI Q99456/M129T MECD Q99456/Q130P MECD Q99456/R135G MECD Q99456/R135I MECD Q99456/R135S MECD Q99456/R135T MECD Q99456/A137P MECD Q99456/L140R MECD Q99456/V143L MECD Q99456/L399LISNLEAQLL MECD Q99456/I426S MECD Q99456/Y429C MECD Q99456/Y429D MECD P13646/M108T WSN P13646/L111P WSN P13646/N112S WSN P13646/L115P WSN P13646/L119P WSN P02533/K116N WC-EBS P02533/M119I WC-EBS at heterozygosity P02533/M119T DM-EBS P02533/M119V K-EBS and WC-EBS P02533/Q120R DM-EBS P02533/L122F DM-EBS and K-EBS P02533/N123K DM-EBS P02533/N123S DM-EBS P02533/R125C DM-EBS P02533/R125G DM-EBS P02533/R125H DM-EBS P02533/R125S DM-EBS P02533/Y129D DM-EBS P02533/L130P DM-EBS P02533/V133L WC-EBS and K-EBS P02533/R134P K-EBS P02533/L143P K-EBS P02533/E144A AREBS P02533/R148C WC-EBS P02533/R211P WC-EBS P02533/A247D K-EBS P02533/V270M WC-EBS P02533/M272R K-EBS P02533/M272T K-EBS P02533/D273G WC-EBS P02533/A274D WC-EBS P02533/I377N WC-EBS P02533/L384P K-EBS P02533/R388C WC-EBS P02533/R388H WC-EBS P02533/L408M WC-EBS P02533/A413T K-EBS P02533/Y415C WC-EBS P02533/Y415H K-EBS P02533/R416P DM-EBS P02533/R417P DM-EBS P02533/L419Q DM-EBS P02533/E422K WC-EBS P08779/M121T PC1 P08779/Q122P PC1 P08779/L124R PC1 P08779/N125S FNEPPK P08779/R127C FNEPPK P08779/R127P PC1 P08779/L128Q PC1 P08779/L132P PC1 P08779/K354N PC1 Q8N1P6/M88T PC2 and SM Q8N1P6/N92D PC2 Q8N1P6/N92H SM Q8N1P6/N92S PC2 Q8N1P6/R94C PC2 and SM Q8N1P6/R94H SM Q8N1P6/R94P PC2 Q8N1P6/L95P PC2 Q8N1P6/L95Q PC2 Q8N1P6/Y98D PC2 Q8N1P6/L99P PC2 Q8N1P6/V102M PC2 Q8N1P6/N109D PC2 P05783/T103A CIRRH P05783/H128L CIRRH P05783/R261Q CIRRH P05783/G340R CIRRH P35527/M157R EPPK P35527/M157T EPPK P35527/M157V EPPK P35527/L160F EPPK P35527/L160V EPPK P35527/N161H EPPK P35527/N161I EPPK P35527/N161K EPPK P35527/N161S EPPK P35527/N161Y EPPK P35527/R163P EPPK P35527/R163Q EPPK P35527/R163W EPPK P35527/Y167WL EPPK P35527/L168S EPPK P35527/V171M EPPK P35527/Q172P EPPK P35527/L458F EPPK P35908/Q181P IBS P35908/I182N IBS P35908/N186D IBS P35908/N186K IBS P35908/N186Y IBS P35908/E465D IBS P35908/E465K IBS P35908/E476K IBS P35908/E476V IBS P35908/I477N IBS P35908/T479P IBS P35908/L484P IBS P35908/E487D IBS P35908/E487K IBS P35908/E488K IBS P04264/K74I NEPPK P04264/V155D EHK P04264/V155G EHK P04264/L161P EHK P04264/S186P EHK P04264/N188K EHK P04264/N188S EHK P04264/N188T EHK P04264/S193P EHK P04264/L214P EHK P04264/D340V EHK P04264/I479F AEI P04264/I479T AEI and EHK P04264/Y482C EHK P04264/L486P EHK P04264/E490Q EHK P12035/R503P MECD P12035/E509K MECD P19013/E153EQ WSN P19013/E449K WSN P13647/P25L MP-EBS P13647/V143D K-EBS P13647/P152L WC-EBS P13647/D158V WC-EBS P13647/I161S WC-EBS P13647/E167K WC-EBS P13647/E168K DM-EBS P13647/R169P DM-EBS P13647/E170K K-EBS P13647/K173N K-EBS P13647/L175F DM-EBS P13647/N176S DM-EBS P13647/N177S WC-EBS P13647/F179S DM-EBS P13647/S181P DM-EBS P13647/V186L K-EBS P13647/V186M K-EBS P13647/E190K WC-EBS P13647/Q191P K-EBS P13647/N193K DM-EBS and WC-EBS P13647/K199T WC-EBS P13647/L311P WC-EBS P13647/V323A K-EBS P13647/V324D WC-EBS P13647/L325P K-EBS P13647/M327K WC-EBS P13647/M327T WC-EBS P13647/D328E WC-EBS P13647/D328G WC-EBS P13647/D328H WC-EBS P13647/D328V WC-EBS P13647/N329K WC-EBS P13647/R331C WC-EBS P13647/R331H WC-EBS P13647/R352S WC-EBS P13647/K404E WC-EBS P13647/E418K K-EBS P13647/A438D WC-EBS P13647/L463P K-EBS P13647/I467T DM-EBS P13647/T469P DM-EBS P13647/E475G DM-EBS P13647/E475K DM-EBS P13647/E477K DM-EBS P13647/G517D K-EBS P02538/F174V PC1 P02538/L469R PC1 P02538/E472K PC1 P04259/E472K PC2 Q7RTS7/N148K ADWH Q7RTS7/D482N HYPT3 O95678/E337K LAHS Q6DHW5/G53V CIRRH Q6DHW5/Y54C CIRRH Q6DHW5/G62C CIRRH P08237/R39L GSD7 P08237/R39P GSD7 P08237/R100Q GSD7 P08237/G209D GSD7 P08237/D543A GSD7 P08237/W686C GSD7 P08237/R696H GSD7 P00568/G40R HAAKD P00568/G64R HAAKD P00568/R128W HAAKD P00568/Y164C HAAKD Q8TCY3/R103W RDYS Q8TCY3/D165G RDYS P23352/C134G HH1 P23352/C163R HH1 P23352/C163Y HH1 P23352/C172R HH1 P23352/R262P HH1 P23352/N267K HH1 P23352/N304S HH1 P23352/S396L HH1 P23352/E514K HH1 P23352/F517L HH1 P23352/E539K HH1 P23352/W571R HH1 P23352/V587L HH1 P10644/S9N CNC1 P10644/R74C CNC1 P10644/R146S CNC1 P10644/D183Y CNC1 P10644/A213D CNC1 P10644/A213T ACRDYS1 P10644/T239A ACRDYS1 P10644/Q285R ACRDYS1 P10644/G289E ACRDYS1 P10644/G289W CNC1 P10644/I327T ACRDYS1 P10644/A328V ACRDYS1 P10644/R335L ACRDYS1 P10644/R335P ACRDYS1 P10644/Y373C ACRDYS1 P10644/Y373H ACRDYS1 C9JR72/R248S NEM6 C9JR72/K390N NEM6 C9JR72/R408C NEM6 P48730/T44A FASPS2 P48730/H46R FASPS2 Q96LG8/D434G GEPD Q09470/V174F EA1 Q09470/I177R EA1 Q09470/F184C EA1 Q09470/T226A EA1 Q09470/T226K MK1 Q09470/T226M EA1 Q09470/T226R EA1 Q09470/R239S EA1 Q09470/A242P MK1 Q09470/P244H MK1 Q09470/F249I EA1 Q09470/E325D EA1 Q09470/L329I EA1 Q09470/S342I EA1 Q09470/I400V RNA edited version Q09470/V404I EA1 Q09470/V408A EA1 Q14003/R420H SCA13 Q14003/F448L SCA13 P15382/T7I JLNS2 P15382/R32H LQT5 P15382/V47F JLNS2 P15382/L51H JLNS2 P15382/TL58PP JLNS2 P15382/S74L LQT5 P15382/D76N LQT5 and JLNS2 P15382/W87R LQT5 P15382/R98W LQT5 P15382/V109I LQT5 P15382/P127T LQT5 Q9Y6J6/Q9E LQT6 Q9Y6J6/R27C ATFB4 Q9Y6J6/M54T LQT6 Q9Y6J6/I57T LQT6 Q9Y6J6/F60L LQT6 Q9Y6J6/V65M LQT6 Q9Y6J6/R77W LQT6 Q9Y6H6/R99H BRGDA6 Q9BUT7/S26I LQT2 Q9BUT7/F29L LQT2 Q9BUT7/I31S LQT2 Q9BUT7/N33T LQT2 Q9BUT7/G47V LQT2 Q9BUT7/G53R LQT2 Q9BUT7/S55L LQT2 Q9BUT7/R56Q LQT2 Q9BUT7/T65P LQT2 Q9BUT7/C66G LQT2 Q9BUT7/H70R LQT2 Q9BUT7/P72Q LQT2 Q9BUT7/A78P LQT2 Q9BUT7/A85V LQT2 Q9BUT7/L86R LQT2 Q9BUT7/R100G LQT2 Q9BUT7/R100Q LQT2 Q9BUT7/R176W LQT2 Q9BUT7/G238S LQT2 Q9BUT7/G306W LQT2 Q9BUT7/R312C LQT2 Q9BUT7/S320L LQT2 Q9BUT7/R328C LQT2 Q9BUT7/P347S LQT2 Q9BUT7/Y420C LQT2 Q9BUT7/T421M LQT2 Q9BUT7/A422T LQT2 Q9BUT7/Y427S LQT2 Q9BUT7/T436M LQT2 Q9BUT7/P451L LQT2 Q9BUT7/D456Y LQT2 Q9BUT7/N470D LQT2 Q9BUT7/T474I LQT2 Q9BUT7/R531Q LQT2 Q9BUT7/R534C LQT2 Q9BUT7/L552S LQT2 Q9BUT7/A558P LQT2 Q9BUT7/A561T LQT2 Q9BUT7/A561V LQT2 Q9BUT7/H562P LQT2 Q9BUT7/L564P LQT2 Q9BUT7/Y569H LQT2 Q9BUT7/I571L LQT2 Q9BUT7/G572C LQT2 Q9BUT7/G572R LQT2 Q9BUT7/G572S LQT2 Q9BUT7/R582C LQT2 Q9BUT7/G584S LQT2 Q9BUT7/W585C LQT2 Q9BUT7/N588D LQT2 Q9BUT7/N588K SQT1 Q9BUT7/I593R LQT2 Q9BUT7/I593T LQT2 Q9BUT7/P596R LQT2 Q9BUT7/G601S LQT2 Q9BUT7/G604S LQT2 Q9BUT7/D609N LQT2 Q9BUT7/Y611H LQT2 Q9BUT7/V612L LQT2 Q9BUT7/T613M LQT2 Q9BUT7/A614V LQT2 Q9BUT7/L615V LQT2 Q9BUT7/L622F LQT2 Q9BUT7/T623I LQT2 Q9BUT7/G626S LQT2 Q9BUT7/F627L LQT2 Q9BUT7/G628S LQT2 Q9BUT7/G628V LQT2 Q9BUT7/N629D LQT2 Q9BUT7/N629K LQT2 Q9BUT7/N629S LQT2 Q9BUT7/V630A LQT2 Q9BUT7/V630L LQT2 Q9BUT7/P632S LQT2 Q9BUT7/N633S LQT2 Q9BUT7/N635I LQT2 Q9BUT7/E637K LQT2 Q9BUT7/K638E LQT2 Q9BUT7/F640L LQT2 Q9BUT7/F640V LQT2 Q9BUT7/S641F LQT2 Q9BUT7/M645L LQT2 Q9BUT7/P721L LQT2 Q9BUT7/R744P LQT2 Q9BUT7/R752Q LQT2 Q9BUT7/R752W LQT2 Q9BUT7/D774Y LQT2 Q9BUT7/E788D LQT2 Q9BUT7/F805C LQT2 Q9BUT7/F805S LQT2 Q9BUT7/S818L LQT2 Q9BUT7/G820R LQT2 Q9BUT7/V822M LQT2 Q9BUT7/R823W LQT2 Q9BUT7/D837G LQT2 Q9BUT7/N861I LQT2 Q9BUT7/R887H LQT2 Q9BUT7/A913V LQT2 Q9BUT7/P917L LQT2 Q9BUT7/R922W LQT2 Q9BUT7/G925R LQT2 Q9BUT7/T983I LQT2 Q9BUT7/N996I LQT2 Q9BUT7/G1036D LQT2 Q9NPC2/G236R BIBAS Q9H427/G95E TASK-5B Q9H427/P260T TASK-5B Q9H427/P261H TASK-5A Q9H427/P323L TASK-5B P51787/P73T LQT1 P51787/Y111C LQT1 P51787/E115G LQT1 P51787/C122Y LQT1 P51787/V133I LQT1 P51787/C136F LQT1 P51787/S140G ATFB3 P51787/F157C LQT1 P51787/E160K LQT1 P51787/FG167W LQT1 P51787/G168R LQT1 P51787/R174C LQT1 P51787/R174H LQT1 P51787/A178P LQT1 P51787/A178T LQT1 P51787/G179S LQT1 P51787/Y184S LQT1 P51787/G189R LQT1 P51787/R190Q LQT1 P51787/A194P LQT1 P51787/I204F LQT1 P51787/G216R LQT1 P51787/S225L LQT1 P51787/I235N LQT1 P51787/D242N LQT1 P51787/R243C LQT1 P51787/R243H JLNS1 P51787/W248R LQT1 P51787/L250H LQT1 P51787/V254M LQT1 P51787/R259C LQT1 P51787/R259L LQT1 P51787/E261D JLNS1 P51787/E261K LQT1 P51787/L266P LQT1 P51787/G269D LQT1 P51787/G269S LQT1 P51787/L273F LQT1 P51787/L273R LQT1 P51787/S277L LQT1 P51787/Y278H LQT1 P51787/Y281C LQT1 P51787/E290K LQT1 P51787/G292D LQT1 P51787/R293C LQT1 P51787/A300T LQT1 P51787/A302V LQT1 P51787/W304R LQT1 P51787/W305S JLNS1 P51787/G306R LQT1 P51787/V307L SQT2 P51787/T309R LQT1 P51787/V310I LQT1 P51787/T311I LQT1 P51787/T312I LQT1 P51787/I313M LQT1 P51787/G314D LQT1 P51787/G314R LQT1 P51787/G314S LQT1 P51787/Y315C LQT1 P51787/Y315S LQT1 P51787/G316R LQT1 P51787/D317N LQT1 P51787/K318N LQT1 P51787/P320A LQT1 P51787/P320H LQT1 P51787/T322A LQT1 P51787/G325R LQT1 P51787/A341E LQT1 P51787/A341V LQT1 P51787/L342F LQT1 P51787/P343S LQT1 P51787/A344E LQT1 P51787/A344V LQT1 P51787/G345E LQT1 P51787/G345R LQT1 P51787/S349W LQT1 P51787/L353P LQT1 P51787/K362R LQT1 P51787/R366P LQT1 P51787/R366Q LQT1 P51787/R366W LQT1 P51787/A371T LQT1 P51787/S373P LQT1 P51787/L374H LQT1 P51787/R380S LQT1 P51787/S389Y LQT1 P51787/T391I LQT1 P51787/W392R LQT1 P51787/V417M LQT1 P51787/P448R LQT1 P51787/R452W LQT1 P51787/V524G LQT1 P51787/A525T LQT1 P51787/K526E LQT1 P51787/R533W LQT1 P51787/R539W LQT1 P51787/S546L LQT1 P51787/R555C LQT1 P51787/R555H LQT1 P51787/S566F LQT1 P51787/S566Y LQT1 P51787/I567S LQT1 P51787/G568R LQT1 P51787/R583C LQT1 P51787/T587M LQT1 P51787/G589D LQT1 P51787/A590T LQT1 P51787/R591H LQT1 P51787/R594Q LQT1 P51787/L619M LQT1 P51787/G626S LQT1 Q99454/R207W BFNS1 Q99454/M208V BFNS1 Q99454/R214W BFNS1 Q99454/H228Q BFNS1 Q99454/L243F BFNS1 Q99454/S247W EIEE7 Q99454/Y284C BFNS1 Q99454/A306T BFNS1 Q99454/R333Q BFNS1 Q99454/K554N BFNS1 and EIEE7 O43525/D305G BFNS2 O43525/W309R BFNS2 O43525/G310V BFNS2 P56696/L274H DFNA2A P56696/W276S DFNA2A P56696/L281S DFNA2A P56696/G285C DFNA2A P56696/G285S DFNA2A P56696/G287R DFNA2A P56696/G321S DFNA2A Q5JUK3/R379Q ENFL5 Q5JUK3/R409Q EIEE14 Q5JUK3/R455H EIEE14 Q5JUK3/I741M EIEE14 Q5JUK3/Y777H ENFL5 Q5JUK3/M877I ENFL5 Q5JUK3/R909C ENFL5 Q5JUK3/A915T EIEE14 Q8TDN2/L126Q RCD3B Q8TDN2/W188C RCD3B Q8TDN2/S256W RCD3B Q8TDN2/A259V RCD3B Q8TDN2/G459D RCD3B Q719H9/A30E SENS Q719H9/P31L SENS Q719H9/P31R SENS Q719H9/P31S SENS Q719H9/H33P SENS Q719H9/H33Q SENS Q719H9/G62D SENS Q719H9/H74P SENS Q96MP8/R94W EPM3 Q96MP8/L108M EPM3 Q96MP8/D115Y EPM3 Q96MP8/R184C EPM3 Q96MP8/N273I EPM3 P41229/D87G MRXSCJ P41229/A388P MRXSCJ P41229/D402Y MRXSCJ P41229/S451R MRXSCJ P41229/F642L MRXSCJ P41229/E698K MRXSCJ P41229/L731F MRXSCJ P41229/R750W MRXSCJ P41229/Y751C MRXSCJ P23276/R180P KEL24 antigen P23276/T193M KEL1/K antigen P23276/R248Q KEL25 antigen P23276/E249K KEL27 antigen P23276/R281Q KEL21/Kp(c P23276/R281W KEL3/Kp(a P23276/V302A KEL17 antigen P23276/A322V KEL22 antigen P23276/Q382R KEL23 antigen P23276/R406Q KEL26 antigen P23276/R492Q KEL19 antigen P23276/E494V KEL10/Ul(a P23276/H548R KEL12 antigen P23276/L597P KEL6/Js(a O60938/T215K CNA2 O60938/N247S CNA2 P50053/G40R FRUCT P50053/A43T FRUCT Q7Z668/M356T CFEOM1 Q7Z668/M947R CFEOM1 Q7Z668/M947T CFEOM1 Q7Z668/M947V CFEOM1 Q7Z668/R954Q CFEOM1 Q7Z668/R954W CFEOM1 Q7Z668/I1010T CFEOM1 P52732/F144L MCLMR P52732/R234C MCLMR P52732/S235C MCLMR P52732/R944C MCLMR Q53T78/T99M MRD9 Q53T78/A255V SPG30 Q9BV80/Q98L CMT2A1 Q14807/P148L SEMDJL2 Q14807/P148S SEMDJL2 Q14807/R149L SEMDJL2 Q14807/R149Q SEMDJL2 Q12840/Y63C SPG10 Q12840/M198T SPG10 Q12840/S203C SPG10 Q12840/R204Q SPG10 Q12840/E251K SPG10 Q12840/K253N SPG10 Q12840/N256S SPG10 Q12840/K257N SPG10 Q12840/Y276C SPG10 Q12840/R280C SPG10 Q12840/R280H SPG10 Q12840/R280L SPG10 Q12840/A361V SPG10 Q2M1P5/P632L PHS Q2M1P5/R641G BBS Q2M1P5/R702Q ACLS Q2M1P5/Q994R BBS Q2M1P5/R1068W BBS Q2M1P5/H1115Q HLS2 Q03426/H20N HIDS Q03426/H20P HIDS and MEVA Q03426/H20Q HIDS Q03426/L39P HIDS Q03426/V132I HIDS Q03426/S135L HIDS Q03426/A148T HIDS Q03426/S150L HIDS Q03426/P167L HIDS Q03426/G171R HIDS Q03426/G202R HIDS Q03426/G211E HIDS Q03426/R215Q HIDS Q03426/T243I MEVA Q03426/V250I HIDS Q03426/L264F MEVA Q03426/L265P MEVA Q03426/L265R HIDS Q03426/I268T HIDS and MEVA Q03426/N301T MEVA Q03426/G309S HIDS Q03426/V310M MEVA and HIDS Q03426/G326R HIDS Q03426/A334T MEVA Q03426/G376V HIDS Q03426/V377I HIDS Q8IZU9/R40W MRD4 Q8IZU9/R336Q MRD4 Q8IZU9/V731F MRD4 Q15726/N115K HH13 Q969F8/L102P HH8 Q969F8/L148S HH8 Q969F8/A189T HH8 Q969F8/A194D HH8 Q969F8/C223R HH8 Q969F8/R297L HH8 Q969F8/R386P CPPB1 O00142/I53M MTDPS2 O00142/T64M MTDPS2 O00142/T108M MTDPS2 O00142/H121N MTDPS2 O00142/R183W MTDPS2 O00142/R192K MTDPS2 O00142/I212N MTDPS2 P10721/K550I GIST P10721/V559A GIST P10721/V559D GIST P10721/E583K PBT P10721/F584C PBT P10721/F584L PBT P10721/G601R PBT P10721/L656P PBT P10721/G664R PBT P10721/R791G PBT P10721/R796G PBT P10721/G812V PBT P10721/T847P PBT O14901/T220M MODY7 O14901/A347S MODY7 Q13351/E325K CDA4 Q6JEL2/Q216P SPGF11 Q6JEL2/A313T SPGF11 Q2TBA0/D34H NEM8 Q2TBA0/L86P NEM8 Q2TBA0/V194E NEM8 Q2TBA0/W201L NEM8 Q2TBA0/R311L NEM8 Q2TBA0/P397L NEM8 Q2TBA0/H455R NEM8 Q2TBA0/G469C NEM8 Q2TBA0/T506P NEM8 Q2TBA0/E528K NEM8 Q2TBA0/A538P NEM8 Q2TBA0/E588K NEM8 Q9UH77/A77E PHA2D Q9UH77/M78V PHA2D Q9UH77/E85A PHA2D Q9UH77/C164F PHA2D Q9UH77/R228G PHA2D Q9UH77/Q309R PHA2D Q9UH77/F322C PHA2D Q9UH77/R336I PHA2D Q9UH77/A340V PHA2D Q9UH77/V361M PHA2D Q9UH77/R362W PHA2D Q9UH77/R384Q PHA2D Q9UH77/R384W PHA2D Q9UH77/L387P PHA2D Q9UH77/A398V PHA2D Q9UH77/S410L PHA2D Q9UH77/P426L PHA2D Q9UH77/M427T PHA2D Q9UH77/R431Q PHA2D Q9UH77/S432N PHA2D Q9UH77/S433G PHA2D Q9UH77/S433N PHA2D Q9UH77/A494T PHA2D Q9UH77/G500V PHA2D Q9UH77/P501T PHA2D Q9UH77/R528C PHA2D Q9UH77/R528H PHA2D Q9UH77/N529K PHA2D Q9UH77/Y557C PHA2D Q9UH77/R575W PHA2D Q8IXQ5/S150N RP42 Q8IXQ5/A153T RP42 Q8IXQ5/A153V RP42 P03952/G123R PKK deficiency P03952/N143S PKK deficiency P03952/C548Y PKK deficiency Q9UEF7/H193R HC O14686/C5109F KABUK1 O14686/R5179H KABUK1 O14686/Y5210C KABUK1 O14686/R5214H KABUK1 O14686/R5340L KABUK1 O14686/G5428D KABUK1 O14686/T5464M KABUK1 P46020/D299V GSD9D P46019/T120TYNTAT GSD9A P46019/H132P GSD9A P46019/H132Y GSD9A P46019/R186C GSD9A P46019/R186H GSD9A P46019/K189E GSD9A P46019/G193V GSD9A P46019/R295H GSD9A P46019/D299G GSD9A P46019/P399S GSD9A P46019/P498L GSD9A P46019/P869R GSD9A P46019/R916W GSD9A P46019/NL953I GSD9A P46019/R1111RTR GSD9A P46019/M1113I GSD9A P46019/T1114I GSD9A P46019/E1125K GSD9A P46019/P1205L GSD9A P46019/G1207W GSD9A Q93100/A118P GSD9B P05129/H101Y SCA14 P05129/S119P SCA14 P05129/G128D SCA14 P30613/G37E PKHYP P30613/R40W PKRD P30613/L73P PKRD P30613/S80P PKRD P30613/R86P PKRD P30613/I90N PKRD P30613/G95R PKRD P30613/M107T PKRD P30613/G111R PKRD P30613/A115P PKRD P30613/S120F PKRD P30613/S130Y PKRD P30613/V134D PKRD P30613/I153T PKRD P30613/A154T PKRD P30613/L155P PKRD P30613/G159V PKRD P30613/R163C PKRD P30613/R163L PKRD P30613/G165V PKRD P30613/E172Q PKRD P30613/I219T PKRD P30613/D221DD PKRD P30613/G222A PKRD P30613/G263R PKRD P30613/G263W PKRD P30613/L272V PKRD P30613/G275R PKRD P30613/D281N PKRD P30613/F287V PKRD P30613/V288L PKRD P30613/D293N PKRD P30613/A295V PKRD P30613/I310N PKRD P30613/I314T PKRD P30613/E315K PKRD P30613/V320L PKRD P30613/D331E PKRD P30613/D331N PKRD P30613/G332S PKRD P30613/V335M PKRD P30613/A336S PKRD P30613/R337P PKRD P30613/R337Q PKRD P30613/D339H PKRD P30613/G341A PKRD P30613/G341D PKRD P30613/I342F PKRD P30613/K348N PKRD P30613/A352D PKRD P30613/I357T PKRD P30613/G358E PKRD P30613/R359C PKRD P30613/R359H PKRD P30613/N361D PKRD P30613/G364D PKRD P30613/V368F PKRD P30613/L374P PKRD P30613/S376I PKRD P30613/T384M PKRD P30613/R385W PKRD P30613/E387G PKRD P30613/D390N PKRD P30613/A392T PKRD P30613/N393K PKRD P30613/N393S PKRD P30613/A394D PKRD P30613/A394V PKRD P30613/C401CS PKRD P30613/T408A PKRD P30613/T408I PKRD P30613/Q421K PKRD P30613/R426Q PKRD P30613/R426W PKRD P30613/E427A PKRD P30613/E427D PKRD P30613/A431T PKRD P30613/G458D PKRD P30613/A459V PKRD P30613/V460M PKRD P30613/A468G PKRD P30613/A468V PKRD P30613/T477A PKRD P30613/R479H PKRD P30613/S485F PKRD P30613/R486W PKRD P30613/R488Q PKRD P30613/R490W PKRD P30613/A495T PKRD P30613/A495V PKRD P30613/R498C PKRD P30613/R498H PKRD P30613/R504L PKRD P30613/R510Q PKRD P30613/G511R PKRD P30613/R531C PKRD P30613/R532Q PKRD P30613/R532W PKRD P30613/V552M PKRD P30613/G557A PKRD P30613/R559G PKRD P30613/N566K PKRD P30613/R569Q PKRD Q9HAX5/F97S CCM1 Q9HAX5/K569E CCM1 Q14533/E402K MLTRX Q14533/E413K MLTRX P78385/E407K MLTRX P78386/R78H ECTD4 O43790/N114D MLTRX O43790/N114H MLTRX O43790/E402K MLTRX O43790/E402Q MLTRX O43790/E413D MLTRX O43790/E413K MLTRX P51812/G75V CLS P51812/V82F CLS P51812/R114W CLS P51812/T115S MRX19 P51812/H127Q CLS P51812/D154Y CLS P51812/I189K CLS P51812/A225V CLS P51812/S227A CLS P51812/F268S CLS P51812/R383W MRX19 P51812/G431D CLS P51812/R729Q CLS P32004/W9S HSAS P32004/G121S HSAS P32004/I179S HSAS, MASA and SPG1 P32004/R184Q HSAS P32004/R184W HSAS P32004/Y194C HSAS P32004/D202Y MASA P32004/H210Q MASA P32004/I219T HSAS P32004/P240L HSAS and ACCPX P32004/C264Y HSAS P32004/G268D MASA P32004/E309K MASA P32004/W335C HSAS P32004/W335R HSAS and MASA P32004/G370R HSAS, MASA and SPG1 P32004/R386C HSAS P32004/N408I HSAS P32004/A415P HSAS P32004/V421D HSAS P32004/A426D MASA P32004/G452R HSAS P32004/R473C HSAS and MASA P32004/L482P MASA P32004/C497Y HSAS P32004/S542P HSAS P32004/D598N MASA P32004/R632P MASA P32004/K655E HSAS P32004/S674C MASA P32004/A691D MASA P32004/A691T HSAS P32004/G698R HSAS and MASA P32004/M741T HSAS P32004/R751P HSAS P32004/V752M MASA P32004/V768F HSAS P32004/D770N MASA P32004/Y784C HSAS P32004/L935P HSAS P32004/P941L HSAS and MASA P32004/Y1070C HSAS P32004/S1194L HSAS and MASA P32004/S1224L HSAS Q9H9P8/G55D L2HGA Q9H9P8/G57R L2HGA Q9H9P8/K81E L2HGA Q9H9P8/H98R L2HGA Q9H9P8/H98Y L2HGA Q9H9P8/E176D L2HGA Q9H9P8/P302L L2HGA Q9H9P8/H434P L2HGA P24043/C527Y MDC1A P24043/C862R MDC1A P24043/L2564P MDC1A Q9UJN9/P950L CMD1JJ P55268/H147R NPHS5 P55268/R246Q PIERSS P55268/R246W PIERSS P55268/C321R PIERSS P55268/N1380K PIERSS P55268/L1393F PIERSS Q13751/G199A GABEB Q13751/K207Q GABEB Q13751/E210K GABEB Q13751/P679L H-JEB Q9Y6N6/G350R OCCM P13473/W321R DAND P42166/R690C CMD1T Q9UH22/S331F MDDGA6 Q9UH22/W495R MDDGA6 Q9UH22/E509K MDDGB6 Q86UK5/I283R EVC Q86UK5/R950W EVC Q14739/P119L PHA Q14739/R372C REYNS Q14739/P569R PHA P04180/L17LLLPPAAPFWL LCATD P04180/N29I LCATD P04180/P34L FED P04180/P34Q FED P04180/T37M LCATD P04180/G54S LCATD P04180/G57R LCATD P04180/V70E FED P04180/W99S FED P04180/A117T LCATD P04180/R123C FED P04180/T147I FED P04180/R159Q FED P04180/R159W LCATD P04180/R164C LCATD P04180/R164H LCATD P04180/R171W LCATD P04180/Y180N LCATD P04180/S205N LCATD P04180/L233P LCATD P04180/K242N LCATD P04180/N252K LCATD P04180/R268H LCATD P04180/M276K FED P04180/T298A FED and LCATD P04180/T298I LCATD P04180/M317I LCATD P04180/P331S LCATD P04180/V333M LCATD P04180/L338F FED P04180/T345M LCATD P04180/R347C FED P04180/T371M FED P04180/F406V LCATD Q9Y4Z3/S189L CMD1C Q9Y4Z3/T206I CMD1C Q9Y4Z3/I345M CMD1C Q9Y4Z3/D673N CMD1C P07195/K7E LDHB deficiency P07195/A35E LDHB deficiency P07195/G69E LDHB deficiency P07195/R107W LDHB deficiency P07195/S129R LDHB deficiency P07195/F171V LDHB deficiency P07195/R172H LDHB deficiency P07195/R172P LDHB deficiency P07195/M175L LDHB deficiency P07195/D322V LDHB deficiency P07195/W325R LDHB deficiency Q53ZD9/C27W San Francisco Q53ZD9/C46S FH Q53ZD9/A50S FH Q53ZD9/C52Y Paris-4 Q53ZD9/S56P FH Q53ZD9/R78C FH Q53ZD9/W87G FH Q53ZD9/C89Y FH Q53ZD9/D90G London-4 Q53ZD9/D90N FH Q53ZD9/D90Y FH Q53ZD9/Q92E FH Q53ZD9/C95G FH Q53ZD9/E101K FH Q53ZD9/C109R Munster-1 Q53ZD9/C116R FH Q53ZD9/C134F FH Q53ZD9/C134W FH Q53ZD9/E140K FH Q53ZD9/C155G Germany Q53ZD9/C160Y FH Q53ZD9/D168H FH Q53ZD9/D168N FH Q53ZD9/D168Y FH Q53ZD9/C173R Greece-1 Q53ZD9/C173W FH Q53ZD9/D175N FH Q53ZD9/D175Y FH Q53ZD9/S177L FH Q53ZD9/C184Y FH Q53ZD9/C197F Shreveport Q53ZD9/C197R FH Q53ZD9/C197Y El Salvador-1 Q53ZD9/D221G FH Q53ZD9/D221N FH Q53ZD9/D221Y FH Q53ZD9/C222Y FH Q53ZD9/D224G Italy-2 Q53ZD9/D224N Portugal Q53ZD9/D224V FH Q53ZD9/S226P Miami-1 Q53ZD9/D227E FH Q53ZD9/E228CK Chieti-3 Q53ZD9/E228K FH Q53ZD9/E228Q Tulsa-2 Q53ZD9/C231G FH Q53ZD9/E240K Charlotte Q53ZD9/C248F Bretagne-1 Q53ZD9/C248Y FH Q53ZD9/Q254P FH Q53ZD9/D256G Nevers Q53ZD9/C261F FH Q53ZD9/D266E Cincinnati-1 Q53ZD9/C270Y Miami-2 Q53ZD9/C276R FH Q53ZD9/C276Y FH Q53ZD9/E277K FH Q53ZD9/S286R Greece-2 Q53ZD9/E288K FH Q53ZD9/D301A FH Q53ZD9/C302W FH Q53ZD9/C302Y FH Q53ZD9/D304E Baltimore-1 Q53ZD9/D304N Denver-2 Q53ZD9/S306L Amsterdam Q53ZD9/C313Y FH Q53ZD9/C318F FH Q53ZD9/C318R FH Q53ZD9/C318Y Mexico-1 Q53ZD9/H327Y FH Q53ZD9/C329F FH Q53ZD9/C329Y FH Q53ZD9/G335S Paris-6 Q53ZD9/C338S FH Q53ZD9/D342E New York-1 Q53ZD9/D342N FH Q53ZD9/G343S Picardie Q53ZD9/R350P FH Q53ZD9/C352Y Mexico-2 Q53ZD9/D354G Munster-2 Q53ZD9/D354V Oklahoma Q53ZD9/D356Y FH Q53ZD9/E357K Paris-7 Q53ZD9/C358Y FH Q53ZD9/C364R Mexico-3 Q53ZD9/Q366R FH Q53ZD9/C368R FH Q53ZD9/N370T FH Q53ZD9/C379R Naples-1 Q53ZD9/C379Y FH Q53ZD9/A399D FH Q53ZD9/L401H Pori Q53ZD9/L401V FH Q53ZD9/F403L FH Q53ZD9/L414R FH Q53ZD9/D415G FH Q53ZD9/R416Q FH Q53ZD9/R416W FH Q53ZD9/I423T FH Q53ZD9/V429M FH Q53ZD9/A431T FH Q53ZD9/L432V FH Q53ZD9/D433H FH Q53ZD9/T434K Algeria-3 Q53ZD9/I441M Rouen Q53ZD9/I441N Russia-1 Q53ZD9/W443C North Platt Q53ZD9/I451T FH Q53ZD9/G478R New York-2 Q53ZD9/L479P FH Q53ZD9/D482H FH Q53ZD9/W483R FH Q53ZD9/H485R Milan Q53ZD9/V523M Kuwait Q53ZD9/P526S Cincinnati-3 Q53ZD9/G546D Saint Omer Q53ZD9/G549D Genoa Q53ZD9/N564H FH Q53ZD9/N564S FH Q53ZD9/G565V Naples-2 Q53ZD9/L568V FH Q53ZD9/D579N FH Q53ZD9/D579Y FH Q53ZD9/G592E FH Q53ZD9/L599S London-5 Q53ZD9/P608S FH Q53ZD9/R633C FH Q53ZD9/P649L FH Q53ZD9/C667Y FH Q53ZD9/C677R FH Q53ZD9/L682P Issoire Q53ZD9/P685L FH Q53ZD9/D700E FH Q53ZD9/E714K FH Q53ZD9/T726I Paris-9 Q53ZD9/I792F Russia-2 Q53ZD9/V797M FH Q53ZD9/P826S FH Q53ZD9/V827I New York-5 Q53ZD9/Y828C FH Q53ZD9/G844D Turku P41159/R105W LEPD Q8NES3/F188L SCDO3 O00292/S342N LRAM O95970/L26R ETL1 O95970/C42G ETL1 O95970/C42R ETL1 O95970/C46R ETL1 O95970/A110D ETL1 O95970/I122K ETL1 O95970/E123K ETL1 O95970/R136W ETL1 O95970/S145R ETL1 O95970/L154P ETL1 O95970/C200R ETL1 O95970/L232P ETL1 O95970/I298T ETL1 O95970/F318C ETL1 O95970/E383A ETL1 O95970/V432E ETL1 O95970/S473L ETL1 Q9UBR4/Y111C CPHD3 Q9UBR4/A210V CPHD3 Q969G2/R84C CPHD4 Q969G2/L190R CPHD4 Q969G2/A210P CPHD4 Q969G2/P389T CPHD4 O43766/R249H PDHLD P38571/H129P CESD P38571/H129R CESD P38571/L200P CESD and WOD P42702/S279P STWS P11150/V134VHYTVAV HL deficiency P11150/S289F HL deficiency P11150/T405M HL deficiency Q8WWY8/W108R HYPT7 and ARWH2 P06858/D36N LPL deficiency P06858/N70S LPL deficiency P06858/V96L LPL deficiency P06858/A98T LPL deficiency P06858/R102S LPL deficiency P06858/W113G LPL deficiency P06858/W113R LPL deficiency P06858/T128A LPL deficiency P06858/G132R LPL deficiency P06858/H163R LPL deficiency P06858/G169E LPL deficiency P06858/G181S LPL deficiency P06858/G181V LPL deficiency P06858/D183G LPL deficiency P06858/D183H LPL deficiency P06858/D183N LPL deficiency P06858/P184R LPL deficiency P06858/A185T LPL deficiency P06858/G186E LPL deficiency P06858/E190G LPL deficiency P06858/S199C LPL deficiency P06858/D201V LPL deficiency P06858/A203T LPL deficiency P06858/D207E LPL deficiency P06858/V208I LPL deficiency P06858/H210D LPL deficiency P06858/H210Q LPL deficiency P06858/G215E LPL deficiency P06858/G215R LPL deficiency P06858/S220R LPL deficiency P06858/I221T LPL deficiency P06858/G222E LPL deficiency P06858/K225R LPL deficiency P06858/V227A LPL deficiency P06858/D231E LPL deficiency P06858/I232S LPL deficiency P06858/P234L LPL deficiency P06858/C243S LPL deficiency P06858/I252T LPL deficiency P06858/C266W LPL deficiency P06858/R270C LPL deficiency P06858/R270H LPL deficiency P06858/S271T LPL deficiency P06858/D277N LPL deficiency P06858/S278C LPL deficiency P06858/L279R LPL deficiency P06858/L279V LPL deficiency P06858/S286G LPL deficiency P06858/S286R LPL deficiency P06858/Y289H LPL deficiency P06858/F297L LPL deficiency and hyperlipidemia P06858/L303F LPL deficiency P06858/C305R LPL deficiency P06858/C310Y LPL deficiency P06858/L313P LPL deficiency P06858/N318S LPL deficiency P06858/S325R LPL deficiency P06858/M328R LPL deficiency P06858/M328T LPL deficiency P06858/L330F LPL deficiency P06858/L330P LPL deficiency P06858/A361T LPL deficiency P06858/S365F LPL deficiency P06858/L392V LPL deficiency P06858/E437K LPL deficiency P06858/E437V LPL deficiency P06858/C445Y LPL deficiency P06858/E448K LPL deficiency P43034/F31S LIS1 P43034/H149R LIS1 P43034/G162S LIS1 P43034/S169P SBH P43034/R241P SBH P43034/H277P LIS1 P43034/D317H LIS1 Q99732/T49M CMT1C Q99732/G112S CMT1C Q99732/T115N CMT1C Q99732/W116G CMT1C Q99732/L122V CMT1C P55344/F105V CTRCT19 Q96JA2/R25G EDMD2 Q96JA2/R25P EDMD2 Q96JA2/R28W FPLD2 Q96JA2/E33D CMT2 Q96JA2/E33G EDMD2 Q96JA2/L35V EDMD2 Q96JA2/N39S MDCL and EDMD2 Q96JA2/A43T EDMD2 Q96JA2/Y45C EDMD2 Q96JA2/R50P EDMD2 and MDCL Q96JA2/R50S EDMD2 Q96JA2/A57P CMDHH Q96JA2/L59R CMDHH Q96JA2/R60G CMD1A and FPLD2 Q96JA2/R62G FPLD2 Q96JA2/I63N EDMD2 Q96JA2/I63S EDMD2 Q96JA2/E65G EDMD2 Q96JA2/L85R CMD1A Q96JA2/R89L CMD1A Q96JA2/L92F CMD1A Q96JA2/K97E CMD1A Q96JA2/R133L FPLD2 Q96JA2/R133P EDMD2 Q96JA2/L140P EDMD2 Q96JA2/L140R HGPS Q96JA2/S143F HGPS Q96JA2/S143P CMD1A Q96JA2/E145K HGPS Q96JA2/T150P EDMD2 Q96JA2/E161K CMD1A Q96JA2/R189P EDMD2 Q96JA2/R190Q EDMD2 Q96JA2/R190RR EDMD2 Q96JA2/R190W CMD1A Q96JA2/D192G CMD1A Q96JA2/N195K CMD1A Q96JA2/RLQT196S EDMD2 Q96JA2/E203G CMD1A Q96JA2/E203K CMD1A Q96JA2/F206L EDMD2 Q96JA2/L215P CMD1A Q96JA2/H222P EDMD2 Q96JA2/H222Y EDMD2 Q96JA2/R225Q EDMD3 Q96JA2/D230N FPLD2 Q96JA2/G232E EDMD2 Q96JA2/L248P EDMD2 Q96JA2/R249Q EDMD2 Q96JA2/R249W MDCL and EDMD2 Q96JA2/K260N CMDA1 Q96JA2/Y267C EDMD2 Q96JA2/S268P EDMD2 Q96JA2/L271P EDMD2 Q96JA2/Q294P EDMD2 Q96JA2/S295P EDMD2 Q96JA2/R298C CMT2B1 Q96JA2/L302P MDCL Q96JA2/S303P EDMD2 Q96JA2/E317K CMD1A Q96JA2/R336Q EDMD2 Q96JA2/R343Q EDMD2 Q96JA2/R349L CMD1A Q96JA2/E358K EDMD2 and MDCL Q96JA2/E361K EDMD2 Q96JA2/M371K EDMD2 Q96JA2/R377H LGMD1B Q96JA2/R377L EDMD2 and LGMD1B Q96JA2/L380S MDCL Q96JA2/R386K EDMD2 Q96JA2/R399C FPLD2 Q96JA2/R435C CMD1A Q96JA2/D446V EDMD2 Q96JA2/G449D EDMD2 Q96JA2/R453P MDCL Q96JA2/R453W EDMD2 Q96JA2/L454P EDMD2 Q96JA2/R455P MDCL Q96JA2/N456D MDCL Q96JA2/N456I EDMD2 Q96JA2/N456K EDMD2 Q96JA2/D461Y EDMD2 Q96JA2/G465D FPLD2 Q96JA2/W467R EDMD2 Q96JA2/I469T EDMD2 Q96JA2/R471C HGPS Q96JA2/Y481H LGMD1B Q96JA2/R482L FPLD2 Q96JA2/R482Q FPLD2 Q96JA2/R482W FPLD2 Q96JA2/K486N FPLD2 Q96JA2/W520S EDMD2 Q96JA2/G523R CMD1A Q96JA2/R527C HGPS Q96JA2/R527H MADA Q96JA2/R527P EDMD2 and FPLD2 Q96JA2/T528K EDMD2 Q96JA2/T528R EDMD2 Q96JA2/A529V MADA Q96JA2/L530P EDMD2 Q96JA2/R541H EDMD2 Q96JA2/R541P EDMD2 Q96JA2/R541S EDMD2 and CMD1A Q96JA2/K542N HGPS Q96JA2/S573L CMD1A, FPLD2 and MADA Q96JA2/R582H FPLD2 Q96JA2/G602S EDMD2 Q96JA2/G608S HGPS Q96JA2/R624H EDMD2 Q03252/R215Q APLD Q03252/A407T APLD O60663/C59R NPS O60663/C59S NPS O60663/H77N NPS O60663/H77Q NPS O60663/H77Y NPS O60663/C80R NPS O60663/L81W NPS O60663/C83F NPS O60663/C83G NPS O60663/C83W NPS O60663/C83Y NPS O60663/C86R NPS O60663/C103W NPS O60663/D106G NPS O60663/C118F NPS O60663/C118Y NPS O60663/H137Y NPS O60663/C140Y NPS O60663/C143S NPS O60663/C146F NPS O60663/C146Y NPS O60663/C165W NPS O60663/R223Q NPS O60663/A236P NPS O60663/S241P NPS O60663/R249P NPS O60663/L252P NPS O60663/A253V NPS O60663/W266C NPS O60663/N269K NPS Q9BYJ1/L237M ARCI3 Q9BYJ1/G281V ARCI3 Q9BYJ1/QYVA344P ARCI3 Q9BYJ1/R396S ARCI3 Q9BYJ1/L427P ARCI3 Q9BYJ1/V500F ARCI3 Q9BYJ1/P630L ARCI3 Q7Z3S6/D63V ARWH1 Q7Z3S6/I188F ARWH1 Q7Z3S6/E189K ARWH1 P09848/Q268H COLACD P09848/G1363S COLACD Q92539/S734L MAJEEDS P42704/A354V LSFC O95237/S175R LCA14 P50851/I2657S CVID8 Q3SXY7/C328Y CSNB1F Q9NZR2/R3157C NSCLC cells P98164/Y2522H DBS O75096/D137N CLSS O75096/C160Y CLSS O75096/D449N CLSS O75096/T461P CLSS O75096/L473F CLSS O75096/D529N CLSS O75096/C1017R CLSS O75096/R1170W SOST2 O75096/W1186S SOST2 O75197/D111Y OPTA1 O75197/L145F EVR4 O75197/R154M HBM O75197/G171R OPTA1 O75197/G171V HBM O75197/T173M EVR4 O75197/D203N OPPG O75197/A214T WENHY O75197/A214V WENHY O75197/A242T OPTA1, VBCH2 and WENHY O75197/T244M OPPG O75197/T253I OPTA1 O75197/M282V HBM O75197/S307F OPPG O75197/R348W OPPG O75197/R353Q OPPG O75197/T390K OPPG O75197/A400E OPPG O75197/G404R OPPG O75197/T409A OPPG O75197/D434N OPPG O75197/E441K EVR4 O75197/R444C EVR4 O75197/E460K OPPG O75197/W478R OPPG O75197/R494Q OPPG O75197/W504C OPPG O75197/D511A EVR4 O75197/G520V OPPG O75197/A522T EVR4 O75197/N531I OPPG O75197/T535M EVR4 O75197/G550R EVR4 O75197/R570Q EVR4 O75197/R570W OPPG O75197/G610R EVR4 and OPPG O75197/F617C EVR4 O75197/D683N OPPG O75197/Y733H OPPG O75197/R752G EVR4 O75197/T798A EVR4 O75197/R805W EVR4 O75197/D1099Y OPPG O75197/R1113C OPPG O75197/N1121D EVR4 O75197/Y1168H EVR4 O75197/C1253F EVR4 O75197/C1361G EVR4 O75197/E1367K EVR4 O75197/G1401D OPPG O75581/R611C ADCAD2 Q5S007/M712V PARK8 Q5S007/R793M PARK8 Q5S007/Q930R PARK8 Q5S007/R1067Q PARK8 Q5S007/S1096C PARK8 Q5S007/I1122V PARK8 Q5S007/S1228T PARK8 Q5S007/I1371V PARK8 Q5S007/R1441C PARK Q5S007/R1441G PARK8 Q5S007/R1441H PARK8 Q5S007/R1514Q PARK8 Q5S007/P1542S PARK8 Q5S007/V1598E PARK8 Q5S007/Y1699C PARK8 Q5S007/R1728H PARK8 Q5S007/R1728L PARK8 Q5S007/M1869T PARK8 Q5S007/R1941H PARK8 Q5S007/I2012T PARK8 Q5S007/G2019S PARK8 Q5S007/I2020T PARK8 Q5S007/T2141M PARK8 Q5S007/R2143H PARK8 Q5S007/T2356I PARK8 Q5S007/L2466H PARK8 P01229/Q74R HGON-LHB P22888/C131R LHR P22888/V144F LHR P22888/I152T LHR P22888/C343S LHR P22888/E354K LHR P22888/L368P FMPP P22888/A373V FMPP P22888/M398T FMPP P22888/L457R FMPP P22888/L502P LHR P22888/I542L FMPP P22888/C543R LHR P22888/D564G FMPP P22888/A568V FMPP P22888/M571I FMPP P22888/A572V FMPP P22888/I575L FMPP P22888/T577I FMPP P22888/D578E FMPP P22888/D578G FMPP P22888/D578H Leydig cell tumor P22888/D578Y FMPP P22888/C581R FMPP P22888/A593P LHR P22888/S616Y LHR P22888/I625K LHR Q14767/V1177M WMS3 Q8N2S1/C311G URDS O75342/L24P ARCI2 O75342/I67F ARCI2 O75342/R114W ARCI2 O75342/P127S ARCI2 O75342/F195L ARCI2 O75342/Y318C ARCI2 O75342/K382E ARCI2 O75342/T383M ARCI2 O75342/N416K ARCI2 O75342/L426P ARCI2 O75342/G462D ARCI2 O75342/R488H ARCI2 O75342/Y521C ARCI2 O75342/V527M ARCI2 O75342/H578Q ARCI2 O75342/A597E ARCI2 O75342/A664P ARCI2 O75342/R679L ARCI2 P10253/S46P GSD2 P10253/C103G GSD2 P10253/C103R GSD2 P10253/C108G GSD2 P10253/C127F GSD2 P10253/R190H GSD2 P10253/Y191C GSD2 P10253/L208P GSD2 P10253/P217L GSD2 P10253/G219R GSD2 P10253/R224P GSD2 P10253/R224Q GSD2 P10253/R224W GSD2 P10253/T234K GSD2 P10253/T234R GSD2 P10253/A237V GSD2 P10253/S251L GSD2 P10253/S254L GSD2 P10253/E262K GSD2 P10253/P266S GSD2 P10253/P285R GSD2 P10253/P285S GSD2 P10253/L291F GSD2 P10253/L291P GSD2 P10253/Y292C GSD2 P10253/G293R GSD2 P10253/L299R GSD2 P10253/H308L GSD2 P10253/H308P GSD2 P10253/G309R GSD2 P10253/L312R GSD2 P10253/N316I GSD2 P10253/M318K GSD2 P10253/M318T GSD2 P10253/P324L GSD2 P10253/W330G GSD2 P10253/G335E GSD2 P10253/G335R GSD2 P10253/P347R GSD2 P10253/L355P GSD2 P10253/P361L GSD2 P10253/C374R GSD2 P10253/R375L GSD2 P10253/G377R GSD2 P10253/P397L GSD2 P10253/Q401R GSD2 P10253/W402R GSD2 P10253/D404N GSD2 P10253/L405P GSD2 P10253/M408V GSD2 P10253/D419V GSD2 P10253/R437C GSD2 P10253/A445P GSD2 P10253/Y455F GSD2 P10253/P457H GSD2 P10253/P457L GSD2 P10253/G478R GSD2 P10253/W481R GSD2 P10253/P482R GSD2 P10253/G483V GSD2 P10253/A486P GSD2 P10253/D489N GSD2 P10253/M519T GSD2 P10253/M519V GSD2 P10253/E521K GSD2 P10253/E521Q GSD2 P10253/P522A GSD2 P10253/P522S GSD2 P10253/S523Y GSD2 P10253/F525Y GSD2 P10253/S529V GSD2 P10253/P545L GSD2 P10253/G549R GSD2 P10253/L552P GSD2 P10253/I557F GSD2 P10253/C558S GSD2 P10253/S566P GSD2 P10253/H568L GSD2 P10253/N570K GSD2 P10253/H572Q GSD2 P10253/Y575C GSD2 P10253/Y575S GSD2 P10253/G576R GSD2 P10253/E579K GSD2 P10253/R585M GSD2 P10253/R594H GSD2 P10253/R594P GSD2 P10253/S599Y GSD2 P10253/R600C GSD2 P10253/R600H GSD2 P10253/S601L GSD2 P10253/T602A GSD2 P10253/G607D GSD2 P10253/A610V GSD2 P10253/H612Q GSD2 P10253/H612Y GSD2 P10253/T614K GSD2 P10253/G615R GSD2 P10253/S619R GSD2 P10253/S627P GSD2 P10253/N635K GSD2 P10253/G638V GSD2 P10253/G638W GSD2 P10253/G643R GSD2 P10253/D645E GSD2 P10253/D645H GSD2 P10253/D645N GSD2 P10253/C647W GSD2 P10253/G648D GSD2 P10253/G648S GSD2 P10253/R660H GSD2 P10253/R672Q GSD2 P10253/R672T GSD2 P10253/R672W GSD2 P10253/R702C GSD2 P10253/R702L GSD2 P10253/R725W GSD2 P10253/T737N GSD2 P10253/Q743K GSD2 P10253/W746G GSD2 P10253/W746S GSD2 P10253/Y766C GSD2 P10253/P768R GSD2 P10253/R819P GSD2 P10253/A880D GSD2 P10253/L901Q GSD2 P10253/P913R GSD2 P10253/V916F GSD2 P10253/N925NGVPVSN GSD2 P10253/L935P GSD2 P10253/V949D GSD2 P61626/I74T AMYL8 P61626/D85H AMYL8 Q99698/R1563H CHS Q99698/V1999D CHS Q9NQ48/L87P BBS Q9UI17/H109R DMGDHD Q13233/L189P SRXY6 Q13233/L189R SRXY6 Q13233/V211VIQ SRXY6 Q13233/G616R SRXY6 Q9UKM7/R334C MRT15 Q9UKM7/E397K MRT15 O00754/C55F MANSA O00754/H72L MANSA O00754/D74E MANSA O00754/A95P MANSA O00754/Y99H MANSA O00754/D159N MANSA O00754/P197R MANSA O00754/H200L MANSA O00754/H200N MANSA O00754/R202P MANSA O00754/R229W MANSA O00754/P263L MANSA O00754/S318L MANSA O00754/L352P MANSA O00754/T355P MANSA O00754/P356R MANSA O00754/P379L MANSA O00754/G390C MANSA O00754/E402K MANSA O00754/G420V MANSA O00754/H445Y MANSA O00754/G451C MANSA O00754/S453F MANSA O00754/S453Y MANSA O00754/V457E MANSA O00754/C501S MANSA O00754/L565P MANSA O00754/W714R MANSA O00754/T745R MANSA O00754/R750W MANSA O00754/G800R MANSA O00754/G800W MANSA O00754/G801D MANSA O00754/L809P MANSA O00754/R815RHR MANSA O00754/G891R MANSA O00754/L892P MANSA O00754/R916C MANSA O00754/R916H MANSA O00754/R950P MANSA O00754/L956R MANSA O00754/F1000S MANSA Q9Y5Q3/S54L MCTO Q9Y5Q3/P59L MCTO Q9Y5Q3/T62P MCTO Q9Y5Q3/P63R MCTO Q9Y5Q3/S66C MCTO Q9Y5Q3/S69L MCTO Q9Y5Q3/S70A MCTO Q9Y5Q3/S70L MCTO Q9Y5Q3/P71L MCTO Q9Y5Q3/P71S MCTO O75444/R288P CTRCT21 O75444/K297R CTRCT21 Q9H0U3/V311G MRX95 P20794/G13S RP62 P20794/G27R RP62 P20794/N130H RP62 P20794/R166H RP62 P20794/I181T RP62 Q9H498/D120G MASPD Q9H498/P126L MASPD Q9H498/C156CHNH MASPD O15232/R70H EDM5 O15232/F105S EDM5 O15232/T120M EDM5 O15232/R121W EDM5 O15232/A128P EDM5 O15232/E134K EDM5 O15232/A173D EDM5 O15232/I192N EDM5 O15232/V194D EDM5 O15232/T195K EDM5 O15232/R209P EDM5 O15232/Y218N EDM5 O15232/A219D EDM5 O15232/K231N EDM5 O15232/V245M EDM5 O15232/C304S SEMD-MATN3 P43243/S85C MPD2 P11226/T24A Chinese P11226/R52C 0.05% of European and African populations O43462/M87I IFAPS O43462/W226L IFAPS O43462/H227L IFAPS O43462/R429H IFAPS O43462/F475S IFAPS O43462/N508S KFSDX O43772/R133W CACT deficiency O43772/D231H CACT deficiency O43772/Q238R CACT deficiency Q96RQ3/C276R MCC1D Q96RQ3/R281Q MCC1D Q96RQ3/A289V MCC1D Q96RQ3/M325R MCC1D Q96RQ3/R385S MCC1D Q96RQ3/L437P MCC1D Q96RQ3/D532H MCC1D Q96RQ3/S535F MCC1D Q9HCC0/E99Q MCC2D Q9HCC0/R155Q MCC2D Q9HCC0/C167R MCC2D Q9HCC0/S173L MCC2D Q9HCC0/R193C MCC2D Q9HCC0/A218T MCC2D Q9HCC0/R268T MCC2D Q9HCC0/D280Y MCC2D Q9HCC0/P310R MCC2D Q9HCC0/V339M MCC2D Q9HCC0/I437V MCC2D Q9HCC0/P459S MCC2D Q8NI22/D129E F5F8D2 Q8NI22/I136T F5F8D2 Q9GZU1/L106P MLIV Q9GZU1/T232P MLIV Q9GZU1/D362Y MLIV Q9GZU1/R403C MLIV Q9GZU1/V446L MLIV Q9GZU1/L447P MLIV Q9GZU1/F465L MLIV Q8NEM0/T27R MCPH1 Q9NNW2/C35Y AHUS2 Q9NNW2/P165S AHUS2 Q9NNW2/W216C AHUS2 Q9NNW2/P231R AHUS2 Q9NNW2/S240P AHUS2 P08235/G633R PHA1A P08235/C645S PHA1A P08235/R659S PHA1A P08235/P759S PHA1A P08235/L769P PHA1A P08235/N770K PHA1A P08235/Q776R PHA1A P08235/S805P PHA1A P08235/S810L EOHSEP P08235/S815R PHA1A P08235/S818L PHA1A P08235/L924P PHA1A P08235/E972G PHA1A P08235/L979P PHA1A Q71F56/E251G DTGA1 Q71F56/R1872H DTGA1 Q71F56/D2023G DTGA1 P21439/W138R PFIC3 P21439/R150K ICP3 P21439/F165I GBD1 P21439/M301T GBD1 P21439/S320F ICP3 and GBD1 P21439/S346I PFIC3 P21439/E395G PFIC3 P21439/T424A PFIC3 P21439/V425M PFIC3 P21439/G535D PFIC3 P21439/I541F PFIC3 P21439/A546D ICP3 P21439/L556R PFIC3 P21439/D564G PFIC3 P21439/L591Q GBD1 P21439/F711S PFIC3 P21439/G762E ICP3 P21439/A934T GBD1 P21439/G983S PFIC3 P21439/P1168S GBD1 P51608/E10Q RTT P51608/D97E RTT P51608/D97Y RTT P51608/L100R RTT P51608/L100V RTT P51608/P101H RTT P51608/P101L RTT P51608/P101R RTT P51608/P101S RTT P51608/P101T RTT P51608/R106Q RTT P51608/R106W RTT P51608/R111G RTT P51608/Y120D RTT P51608/L124F RTT P51608/Q128P RTT P51608/R133C RTT P51608/R133H RTT P51608/S134C RTT P51608/K135E RTT P51608/E137G MRXS13 P51608/A140V MRXS13 P51608/P152R RTT P51608/F155I RTT P51608/F155S RTT P51608/D156G RTT P51608/T158A RTT P51608/T158M RTT P51608/G161V RTT P51608/R167W MRXS13 P51608/K210I RTT P51608/P225L MRXS13 P51608/P225R RTT P51608/K284E MRXS13 P51608/P302A RTT P51608/P302H RTT P51608/P302L RTT P51608/P302R RTT P51608/K305R RTT P51608/R306C RTT P51608/R306H RTT P51608/P322A RTT P51608/P322L RTT P51608/P322S MRXS13 P51608/R344W RTT P51608/P399L MRXS13 P51608/G428S ENS-MECP2 P51608/R453Q MRXS13 Q93074/R961W OKS Q93074/N1007S LUJFRYS Q93074/R1148H OHDOX Q93074/S1165P OHDOX Q93074/H1729N OHDOX Q9NVC6/L371P MCPHSBA Q9NTU0/P617Q MRT18 Q9H0L5/A335V CMT2B2 Q96KG7/C326R EMARDD Q96KG7/C774R EMARDD Q7Z7M0/G199R CRPT2 Q7Z7M0/R1566H CRPT2 Q7Z7M0/S2434G CRPT2 Q9BV36/R35W GS3 O00632/P12L MEN1 O00632/L22R MEN1 O00632/L39W MEN1 O00632/G42D MEN1 O00632/E45G MEN1 O00632/E45K MEN1 O00632/R98L MEN1 O00632/G110E MEN1 O00632/K135I MEN1 O00632/H139D MEN1 O00632/H139P MEN1 O00632/H139R MEN1 O00632/H139Y MEN1 O00632/F144V MEN1 O00632/I147F MEN1 O00632/D158V MEN1 and FIHP O00632/S159I MEN1 O00632/S160F MEN1 O00632/G161D MEN1 and parathyroid tumor O00632/A165P MEN1 O00632/A165T MEN1 O00632/V167F MEN1 O00632/A169D MEN1 O00632/C170R MEN1 O00632/L173P MEN1 O00632/D177Y MEN1 O00632/A181P MEN1 O00632/E184D MEN1 O00632/E184K MEN1 O00632/E184Q MEN1 O00632/H186R MEN1 O00632/W188R MEN1 and parathyroid tumor O00632/W188S MEN1 O00632/V189E FIHP O00632/V220M MEN1 O00632/L228P MEN1 O00632/G230R MEN1 O00632/R234L MEN1 O00632/V245F MEN1 O00632/C246F MEN1 O00632/C246R MEN1 O00632/C246Y MEN1 O00632/A247V MEN1 O00632/S258P MEN1 O00632/E260K FIHP O00632/L264R MEN1 O00632/Q265P FIHP O00632/Q266QLQ MEN1 O00632/L269P MEN1 O00632/L272P FIHP O00632/P282H FIHP O00632/G286R MEN1 O00632/A289E MEN1 O00632/L291P MEN1 O00632/G310D FIHP O00632/A314P MEN1 O00632/T316P MEN1 O00632/R319P MEN1 O00632/H322R MEN1 O00632/H322Y MEN1 O00632/P325L MEN1 O00632/P325R MEN1 O00632/A330P MEN1 O00632/A342D MEN1 O00632/A342P MEN1 O00632/W346R MEN1 O00632/A347P MEN1 O00632/T349R MEN1 O00632/I353N MEN1 O00632/Y358D MEN1 O00632/R360W MEN1 O00632/D362H MEN1 O00632/E364K MEN1 O00632/A373D MEN1 O00632/I377M MEN1 O00632/P378S MEN1 O00632/A390V MEN1 O00632/A416P MEN1 and FIHP O00632/L418R MEN1 O00632/L419P MEN1 O00632/R420P MEN1 O00632/D423H MEN1 O00632/D423N MEN1 O00632/C426Y MEN1 O00632/W428S MEN1 O00632/S432R MEN1 O00632/W441C MEN1 O00632/W441R MEN1 O00632/L449P MEN1 O00632/F452S MEN1 O00632/W476C MEN1 O00632/R532C MEN1 O00632/P545S MEN1 O00632/P549S MEN1 O00632/S560N MEN1 O00632/S560R MEN1 Q96T33/F62S NF2 Q96T33/M77V NF2 Q96T33/E106G NF2 Q96T33/C133R NF2 Q96T33/L141P NF2 Q96T33/G197C NF2 Q96T33/N220Y NF2 Q96T33/L234R NF2 and in retinal hamartoma Q96T33/T352M NF2 Q96T33/L360P NF2 Q96T33/K413E NF2 Q96T33/K533T NF2 Q96T33/L535P NF2 Q96T33/Q538P NF2 Q96T33/L539H NF2 Q96T33/K579M NF2 Q12866/E540K RP38 Q12866/S661C RP38 Q12866/I871T RP38 Q99707/H920D HMAG Q99707/P1173L HMAG Q00266/S38N MATD Q00266/A55D MATD Q00266/R199C MATD Q00266/R264C MATD Q00266/R264H MATD Q00266/L305P MATD Q00266/I322M MATD Q00266/G336R MATD Q00266/E344A MATD Q00266/R356Q MATD Q00266/P357L MATD Q00266/G378S MATD P08581/V1092I RCCP P08581/H1094L RCCP P08581/H1094R RCCP P08581/H1094Y RCCP P08581/H1106D RCCP P08581/M1131T RCCP P08581/T1173I HCC P08581/V1188L RCCP P08581/L1195V RCCP P08581/V1220I RCCP P08581/D1228H RCCP P08581/D1228N RCCP P08581/Y1230C RCCP P08581/Y1230D RCCP P08581/Y1230H RCCP P08581/K1244R HCC P08581/M1250I HCC P08581/M1250T RCCP O95140/V69F CMT2A2 O95140/L76P CMT2A2 O95140/R94Q CMT2A2 O95140/R94W CMT6 O95140/T206I CMT6 O95140/L233V CMT2A2 O95140/P251A CMT2A2 O95140/Q276R CMT6 O95140/R280H CMT2A2 O95140/K357N CMT2A2 O95140/H361Y CMT6 O95140/R364W CMT6 and CMT2A2 O95140/W740S CMT2A2 O95140/E744M CMT2A2 Q9BY79/I182T NNO2 Q8NHS3/G52R CLN7 Q8NHS3/Y121C CLN7 Q8NHS3/R139H CLN7 Q8NHS3/A157P CLN7 Q8NHS3/T160I CLN7 Q8NHS3/T160N CLN7 Q8NHS3/T294K CLN7 Q8NHS3/G310D CLN7 Q8NHS3/G429D CLN7 Q8NHS3/P447L CLN7 Q8NHS3/T458K CLN7 Q8NHS3/R465Q CLN7 Q8NHS3/R465W CLN7 Q8NHS3/M470V CLN7 Q10469/H262R CDG2A Q10469/S290F CDG2A Q10469/N318D CDG2A Q9BQP7/Y233C MTDPS11 Q9P2M3/V943F LVNC7 P30301/E134G CTRCT15 P30301/T138R CTRCT15 P03971/V12G PMDS1 P03971/L70P PMDS1 P03971/G101V PMDS1 P03971/R123W PMDS1 P03971/Y167C PMDS1 P03971/R194C PMDS1 P03971/V477A PMDS1 P03971/H506Q PMDS1 P03971/C525Y PMDS1 Q9P2Y8/R310K WS2A Q9P2Y8/N317K TIETZS Q9P2Y8/S357P WS2A Q9P2Y8/N385D WS2A Q9P2Y8/S405P WS2A Q9NPJ1/I32M BBS6 Q9NPJ1/Y37C MKKS and BBS6 Q9NPJ1/G41R BBS6 Q9NPJ1/G52D BBS6 Q9NPJ1/T57A BBS6 Q9NPJ1/H84Y MKKS Q9NPJ1/C99R BBS6 Q9NPJ1/R155L BBS6 Q9NPJ1/A181P BBS6 Q9NPJ1/S236P BBS6 Q9NPJ1/T237A BBS6 Q9NPJ1/T237P BBS6 Q9NPJ1/A242S MKKS and BBS6 Q9NPJ1/L277P BBS6 Q9NPJ1/D286A BBS6 Q9NPJ1/P299L BBS6 Q9NPJ1/I339V BBS6 Q9NPJ1/G345E BBS6 Q9NPJ1/S460P BBS6 Q9NPJ1/D492N BBS6 Q9NPJ1/C499S BBS6 Q9NPJ1/S511A BBS6 Q9NPJ1/R518H BBS6 Q13064/R365S CPPB2 Q9NXB0/R166W MKS1 Q9NXB0/C492W BBS13 Q5HYA8/Y54C MKS3 Q5HYA8/K99N COACHS Q5HYA8/P130R COACHS Q5HYA8/R172Q COACHS Q5HYA8/N242T COACHS Q5HYA8/S245F MKS3 Q5HYA8/M252T MKS3 and COACHS Q5HYA8/M257V COACHS Q5HYA8/W290L NPHP11 Q5HYA8/W296C MKS3 Q5HYA8/L349S COACHS Q5HYA8/P358L COACHS and JBTS6 Q5HYA8/T372K COACHS Q5HYA8/Q376E COACHS Q5HYA8/Q376P MKS3 Q5HYA8/R440Q MKS3 and COACHS Q5HYA8/R441C COACHS Q5HYA8/P485S COACHS Q5HYA8/Y513C JBTS6, MKS3 and COACHS Q5HYA8/G545E JBTS6 Q5HYA8/F590S COACHS Q5HYA8/C615R MKS3, COACHS and NPHP11 Q5HYA8/F637L COACHS Q5HYA8/S728G COACHS Q5HYA8/H782R COACHS Q5HYA8/R820S COACHS Q5HYA8/G821R NPHP11 Q5HYA8/G821S NPHP11 Q5HYA8/I833T COACHS and JBTS6 Q5HYA8/Q841P COACHS Q5HYA8/F942C COACHS Q5HYA8/L966P MKS3 Q15049/G59E MLC1 Q15049/S69L MLC1 Q15049/M80I MLC1 Q15049/R84C MLC1 Q15049/P92S MLC1 Q15049/S93L MLC1 Q15049/T118R MLC1 Q15049/C125R MLC1 Q15049/N141K MLC1 Q15049/N141S MLC1 Q15049/G212R MLC1 Q15049/A245P MLC1 Q15049/S246R MLC1 Q15049/S280L MLC1 Q15049/T320K MLC1 P40692/R18C HNPCC2 P40692/I19F HNPCC2 P40692/A21V HNPCC2 P40692/I25F HNPCC2 P40692/P28L HNPCC2 P40692/A29S HNPCC2 P40692/M35K HNPCC2 P40692/M35N MMRCS P40692/M35R HNPCC2 P40692/N38H HNPCC2 P40692/D41G HNPCC2 P40692/S44F HNPCC2 P40692/TSI45CF HNPCC2 P40692/G54E CRC P40692/Q62K HNPCC2 P40692/D63E HNPCC2 P40692/N64S HNPCC2 P40692/G67E CRC P40692/G67R HNPCC2 P40692/G67W HNPCC2 P40692/I68N HNPCC2 P40692/R69K HNPCC2 P40692/C77R HNPCC2 and CRC P40692/C77Y CRC P40692/F80V HNPCC2 P40692/K84E HNPCC2 P40692/G101D HNPCC2 P40692/E102K HNPCC2 P40692/I107R HNPCC2 P40692/A111V HNPCC2 P40692/T117M HNPCC2 P40692/T117R HNPCC2 P40692/A128P HNPCC2 P40692/D132H CRC P40692/L155R HNPCC2 P40692/R182G HNPCC2 P40692/R182K HNPCC2 P40692/V185G HNPCC2 P40692/V185L HNPCC2 P40692/S193P HNPCC2 P40692/R217C HNPCC2 P40692/R226L HNPCC2 P40692/E234G HNPCC2 P40692/G244D HNPCC2 P40692/G244V CRC P40692/S247P HNPCC2 P40692/L260R CRC P40692/H264Y HNPCC2 P40692/E268G CRC P40692/A282G HNPCC2 P40692/L292P HNPCC2 P40692/S295T HNPCC2 P40692/D304V HNPCC2 P40692/S321I HNPCC2 P40692/R325Q CRC P40692/V326A HNPCC2 P40692/H329P HNPCC2 P40692/N338S HNPCC2 P40692/Y379C HNPCC2 P40692/R385C HNPCC2 P40692/R385P HNPCC2 P40692/A441T HNPCC2 P40692/R472I CRC P40692/R474Q HNPCC2 P40692/D485E HNPCC2 P40692/D485H HNPCC2 P40692/A492T HNPCC2 and CRC P40692/V506A HNPCC2 P40692/Q542L HNPCC2 P40692/Q542P HNPCC2 P40692/L549P HNPCC2 P40692/L550P HNPCC2 P40692/N551T HNPCC2 P40692/L559R HNPCC2 P40692/I565F HNPCC2 P40692/L574P HNPCC2 P40692/E578G HNPCC2 and CRC P40692/L582V HNPCC2 P40692/A586P HNPCC2 P40692/L588P HNPCC2 P40692/A589D HNPCC2 P40692/D601G CRC P40692/P603R HNPCC2 P40692/L607H LCIS and HNPCC2 P40692/K618T HNPCC2 P40692/L622H HNPCC2 P40692/A623P HNPCC2 P40692/FS626ST HNPCC2 P40692/D631A HNPCC2 P40692/L636P HNPCC2 P40692/P640S HNPCC2 P40692/Y646C HNPCC2 P40692/P648L HNPCC2 P40692/P648S HNPCC2 P40692/P654L HNPCC2 P40692/R659L HNPCC2 P40692/R659P HNPCC2 P40692/T662P HNPCC2 P40692/A681T HNPCC2 P40692/R687W HNPCC2 P40692/Q689R HNPCC P40692/H718Y HNPCC2 P40692/I719INVFHI HNPCC2 P40692/L724M HNPCC2 P40692/K751R HNPCC2 P40692/R755W HNPCC Q9UHC1/Q24E HNPCC7 Q9UHC1/N499S HNPCC7 Q9UHC1/E624Q HNPCC7 Q9UHC1/R647C HNPCC7 Q9UHC1/S817G HNPCC7 Q9UHC1/G981S HNPCC7 Q9UHC1/N1007S HNPCC7 Q9UHC1/A1394T HNPCC7 Q9UHC1/E1451K HNPCC7 P10916/A13T CMH10 P10916/F18L CMH10 P10916/E22K CMH10 P10916/R58Q CMH10 P10916/P95A CMH10 P10916/D166V CMH10 Q8IVH4/L89P MMAA Q8IVH4/R145Q MMAA Q8IVH4/Y207C MMAA Q8IVH4/G218E MMAA Q8IVH4/R359G MMAA Q8IVH4/R359Q MMAA Q96EY8/I96T MMAB Q96EY8/A135T MMAB Q96EY8/R191W MMAB Q96EY8/E193K MMAB Q9Y4U1/Q27R MMAHCC Q9Y4U1/L116P MMAHCC Q9Y4U1/H122R MMAHCC Q9Y4U1/Y130H MMAHCC Q9Y4U1/G147A MMAHCC Q9Y4U1/G147D MMAHCC Q9Y4U1/G156D MMAHCC Q9Y4U1/W157C MMAHCC Q9Y4U1/R161G MMAHCC Q9Y4U1/R161Q MMAHCC Q9Y4U1/R189S MMAHCC Q9Y4U1/L193P MMAHCC Q9Y4U1/R206P MMAHCC Q9Y4U1/R206W MMAHCC Q9H3L0/S108SLAEPLS MMAHCD Q9H3L0/T182N MMAHCD Q9H3L0/Y249C MMAHCD Q9H3L0/L259P MMAHCD P45452/F74S MANDP1 P45452/F75S SEMD-MO P45452/M91T MANDP1 P45452/H232N MANDP1 P08253/R101H MONA P08253/E404K MONA Q02252/G446R MMSDHD P50219/R243W CURRAS P50219/R245G CURRAS P50219/R245H CURRAS P50219/T246S CURRAS P50219/W288G CURRAS P50219/W288L CURRAS P50219/F289S CURRAS P50219/Q290P CURRAS P50219/R292W CURRAS P50219/R293Q CURRAS P50219/R293W CURRAS O96033/V7F MOCOD type B O96007/E168K MOCOD type B Q96EN8/A57P XU2 Q96EN8/T294I XU2 Q96EN8/R776C XU2 Q5TCE2/R67W MOCOD type A Q5TCE2/R73W MOCOD type A Q5TCE2/C80G MOCOD type A Q5TCE2/C84F MOCOD type A Q5TCE2/R123W MOCOD type A Q5TCE2/G126D MOCOD type A Q5TCE2/G127D MOCOD type A Q5TCE2/R319Q MOCOD type A Q5TCE2/G324E MOCOD type A Q5TCE2/G324R MOCOD type A Q13724/R486T CDGIIb Q13724/F652L CDGIIb Q92893/S133C NRCLP7 P53985/K204E SDLT P53985/G472R SDLT P36021/S120F MCT8 deficiency P36021/A150V MCT8 deficiency P36021/V161M MCT8 deficiency P36021/L360W MCT8 deficiency P36021/L397P MCT8 deficiency P36021/L438P MCT8 deficiency P36021/G490R MCT8 deficiency P36021/L494P MCT8 deficiency Q02750/F53S CFC3 Q02750/G128V CFC3 Q02750/Y130C CFC3 P36507/F57C CFC4 P36507/F57V CFC4 P36507/P128Q CFC4 P36507/Y134H CFC4 Q9Y5U8/L79H MPYCD Q9Y5U8/R97W MPYCD Q00325/G72E MPCD P34949/M51T CDG1B P34949/S102L CDG1B P34949/Y129C CDG1B P34949/D131N CDG1B P34949/M138T CDG1B P34949/I140T CDG1B P34949/R152Q CDG1B P34949/R219Q CDG1B P34949/G250S CDG1B P34949/Y255C CDG1B P34949/R295H CDG1B P34949/I398T CDG1B P34949/R418H CDG1B Q8TAP9/M144V TTDN1 O75352/G73E CDG1F O75352/L74S CDG1F O75352/L119P CDG1F P39210/R50Q MTDPS6 P39210/R50W MTDPS6 P39210/N166K MTDPS6 P49959/N117S ATLD Q92887/R768W DJS Q92887/R1150H DJS Q92887/I1173F DJS Q92887/Q1382R DJS O95255/G129E PXE O95255/S317R PXE O95255/L355R GACI2 and PXE O95255/T364R PXE O95255/N370D PXE O95255/R382W PXE O95255/R391G GACI2 and PXE O95255/K392N PXE O95255/S398G PXE O95255/N411K PXE O95255/C440G PXE O95255/A455P PXE O95255/L463H PXE O95255/L495H PXE O95255/R518Q PXE O95255/S535P PXE O95255/F551S PXE O95255/F568S PXE O95255/S590F GACI2 O95255/A594V PXE O95255/R600C PXE O95255/G663C PXE O95255/L673P PXE O95255/L677P PXE O95255/Q698P PXE O95255/E699D PXE O95255/L726P PXE O95255/M751K PXE O95255/G755R PXE O95255/R760W PXE O95255/R765Q PXE O95255/A766D PXE O95255/D777N PXE O95255/R807Q PXE O95255/R807W PXE O95255/V810M PXE O95255/T811M PXE O95255/A820P PXE O95255/R881S PXE O95255/T944I PXE O95255/A950T PXE O95255/G992R PXE O95255/D1056E PXE O95255/R1114C GACI2 and PXE O95255/R1114P PXE O95255/S1121L PXE O95255/S1121W PXE O95255/T1130M PXE O95255/G1133A PXE O95255/R1138P PXE O95255/R1138Q PXE O95255/R1138W PXE O95255/A1139T PXE O95255/R1164Q PXE O95255/G1203D PXE O95255/R1221C PXE O95255/R1221H GACI2 O95255/L1226I PXE O95255/R1235W PXE O95255/D1238H PXE O95255/V1298F PXE O95255/T1301I PXE O95255/G1302R PXE O95255/A1303P PXE O95255/R1314Q PXE O95255/R1314W GACI2 and PXE O95255/G1321S PXE O95255/L1335P PXE O95255/L1335Q PXE O95255/R1339C PXE O95255/R1339H PXE O95255/R1339L PXE O95255/P1346S PXE O95255/Q1347H PXE O95255/G1354R PXE O95255/R1357W PXE O95255/D1361N PXE O95255/E1400K PXE O95255/Q1406K PXE O95255/I1424T PXE O95255/R1459C PXE P43246/A2T HNPCC1 P43246/T33P HNPCC1 P43246/G40S CRC P43246/T44M HNPCC1 P43246/A45V HNPCC1 P43246/H46Q HNPCC1 P43246/L93F HNPCC1 P43246/Y98C HNPCC1 P43246/V102I HNPCC1 P43246/K110T HNPCC1 P43246/N127S HNPCC1 P43246/N139S HNPCC1 P43246/I145M HNPCC1 P43246/V161D HNPCC1 P43246/G162A HNPCC1 P43246/G162R HNPCC1 P43246/V163D HNPCC1 P43246/V163G HNPCC1 P43246/G164R HNPCC1 P43246/D167H HNPCC1 P43246/I169V HNPCC1 P43246/L173P HNPCC1 P43246/L175P HNPCC1 P43246/L187P HNPCC1 P43246/E198G HNPCC1 P43246/G203R CRC P43246/I216V HNPCC1 P43246/K246Q HNPCC1 P43246/D283Y HNPCC1 P43246/A305T HNPCC1 P43246/S323C HNPCC1 P43246/S323Y HNPCC1 P43246/C333Y HNPCC1 P43246/T335I HNPCC1 P43246/P336S HNPCC1 P43246/P349L HNPCC1 P43246/R359S HNPCC1 P43246/L390F HNPCC1 P43246/K393M HNPCC1 P43246/Q419K CRC P43246/M492V HNPCC1 P43246/D506Y CRC P43246/R524P HNPCC1 P43246/T552P HNPCC1 P43246/S554R HNPCC1 P43246/E562V HNPCC1 P43246/T564A HNPCC1 P43246/N583S HNPCC1 P43246/N596S HNPCC1 P43246/A600V HNPCC1 P43246/D603N HNPCC1 P43246/Y619C CRC P43246/P622L HNPCC1 P43246/Q629R HNPCC1 P43246/A636P HNPCC1 P43246/H639R HNPCC1 P43246/H639Y HNPCC1 P43246/E647K HNPCC1 P43246/Y656H HNPCC1 P43246/D660G HNPCC1 P43246/G669R HNPCC1 P43246/N671Y HNPCC1 P43246/G674R HNPCC1 P43246/G674S HNPCC1 P43246/I679T HNPCC1 P43246/M688I HNPCC1 P43246/G692R HNPCC1 P43246/C697F HNPCC1 P43246/C697R HNPCC1 P43246/A714V HNPCC1 P43246/S723F HNPCC1 P43246/M729V HNPCC1 P43246/T732I HNPCC1 P43246/E749K HNPCC1 P43246/M813V HNPCC1 P43246/A834T HNPCC1 P43246/H839R HNPCC1 P43246/K845E HNPCC1 P43246/E853A HNPCC1 P43246/E886G HNPCC1 P43246/T905R HNPCC1 P43246/V923E HNPCC1 P43246/K931T HNPCC1 P52701/G54A CRC P52701/K99N CRC P52701/S285I CRC P52701/F340S CRC, breast cancer and leukemia P52701/Q522R CRC P52701/G566R CRC P52701/E619D CRC P52701/G685A CRC P52701/Q698E HNPCC P52701/I725M CRC P52701/R772Q CRC P52701/R772W HNPCC5 P52701/A787V CRC P52701/V800A CRC P52701/D803G CRC P52701/K854M CRC P52701/R976H CRC P52701/A1021D CRC P52701/D1031V CRC P52701/R1076C CRC P52701/P1087T CRC P52701/R1095H CRC P52701/T1100M CRC P52701/C1158R CRC P52701/E1163V HNPCC5 P52701/T1219I CRC P52701/H1248D CRC P52701/T1284M CRC P52701/L1354Q CRC Q9UN59/V38M CMM5 Q9UN59/S41F CMM5 Q9UN59/V51A CMM5 Q9UN59/M128T CMM5 Q9UN59/C289R CMM5 Q8IXL7/C89G DFNB74 P28360/M67K STHAG1 P28360/E84V OFC5 P28360/G97D OFC5 P28360/V120G OFC5 P28360/G122E OFC5 P28360/R157S OFC5 P28360/R202P STHAG1 P35548/P148H CRS2 P35548/L154P PFM1 P35548/R172H PFM1 P42898/R51P MTHFRD P42898/R52Q MTHFRD P42898/R157Q MTHFRD P42898/T227M MTHFRD P42898/P251L MTHFRD P42898/L323P MTHFRD P42898/N324S MTHFRD P42898/R325C MTHFRD P42898/R335C MTHFRD P42898/W339G MTHFRD P42898/R357C MTHFRD P42898/R377C MTHFRD P42898/G387D MTHFRD P42898/P572L MTHFRD P42898/E586K MTHFRD Q13496/V49F CNMX Q13496/Y68D CNMX Q13496/R69C CNMX Q13496/R69P CNMX Q13496/R69S CNMX Q13496/L70F CNMX Q13496/L87P CNMX Q13496/E157K CNMX Q13496/P179S CNMX Q13496/N180K CNMX Q13496/R184G CNMX Q13496/R184L CNMX Q13496/T186I CNMX Q13496/N189S CNMX Q13496/T197I CNMX Q13496/Y198N CNMX Q13496/P199S CNMX Q13496/L202S CNMX Q13496/P205L CNMX Q13496/I225T CNMX Q13496/P226T CNMX Q13496/V227M CNMX Q13496/L228P CNMX Q13496/S229P CNMX Q13496/W230C CNMX Q13496/H232R CNMX Q13496/R241C CNMX Q13496/R241L CNMX Q13496/I264S CNMX Q13496/A279G CNMX Q13496/M317R CNMX Q13496/W346C CNMX Q13496/W346S CNMX Q13496/V364G CNMX Q13496/H374D CNMX Q13496/S376N CNMX Q13496/G378E CNMX Q13496/G378R CNMX Q13496/S387Y CNMX Q13496/A389D CNMX Q13496/L391P CNMX Q13496/Y397C CNMX Q13496/G402A CNMX Q13496/G402R CNMX Q13496/G402V CNMX Q13496/E404K CNMX Q13496/L406P CNMX Q13496/W411C CNMX Q13496/S420SFIQ CNMX Q13496/R421Q CNMX Q13496/R421RFIQ CNMX Q13496/D431N CNMX Q13496/D433N CNMX Q13496/C444Y CNMX Q13496/H469P CNMX Q13496/L470P CNMX Q13496/N481Y CNMX Q13496/W499R CNMX Q13496/K510N CNMX Q13614/R283W CMT4B1 O95248/M417V CMT4B3 O95248/T1564A CMT4B3 Q9H6C0/R336Q CNM1 Q9H6C0/Y462C CNM1 Q9BS06/A453T COXPD10 P55157/R540H ABL P55157/S590I ABL P55157/G746E ABL P55157/N780Y ABL Q9UBK8/V83M HMAE Q9UBK8/A156T HMAE Q9UBK8/C432R HMAE Q9UBK8/G514R HMAE Q9UBK8/G581R HMAE O75648/Y77H LFIT O75648/G272D LFIT Q659F4/Q75K HCC Q659F4/T186S HNSCC cell lines Q659F4/A563S HCC Q659F4/N873H HCC Q659F4/Q1201R HCC O15146/M605I CMS-ACHRD O15146/A727V CMS-ACHRD O15146/V790M CMS-ACHRD P22033/P86L MMAM P22033/G87E MMAM P22033/R93H MMAM P22033/G94R MMAM P22033/G94V MMAM P22033/P95R MMAM P22033/W105R MMAM P22033/R108C MMAM P22033/R108G MMAM P22033/R108H MMAM P22033/Q109R MMAM P22033/A137V MMAM P22033/G145S MMAM P22033/S148L MMAM P22033/D156N MMAM P22033/G158V MMAM P22033/F174S MMAM P22033/M186V MMAM P22033/N189K MMAM P22033/A191E MMAM P22033/A197E MMAM P22033/G203R MMAM P22033/G215C MMAM P22033/G215S MMAM P22033/Q218H MMAM P22033/N219Y MMAM P22033/R228Q MMAM P22033/T230I MMAM P22033/Y231N MMAM P22033/S262N MMAM P22033/H265Y MMAM P22033/L281S MMAM P22033/G291E MMAM P22033/Q293P MMAM P22033/L305S MMAM P22033/S306F MMAM P22033/G312V MMAM P22033/Y316C MMAM P22033/A324T MMAM P22033/L328F MMAM P22033/L328P MMAM P22033/L347R MMAM P22033/H350Y MMAM P22033/V368D MMAM P22033/R369C MMAM P22033/R369H MMAM P22033/T370P MMAM P22033/A377E MMAM P22033/Q383H MMAM P22033/Q383P MMAM P22033/H386N MMAM P22033/N388H MMAM P22033/G426R MMAM P22033/G427D MMAM P22033/L518P MMAM P22033/A535P MMAM P22033/C560Y MMAM P22033/T566R MMAM P22033/F573S MMAM P22033/Y587C MMAM P22033/P615R MMAM P22033/P615T MMAM P22033/R616C MMAM P22033/L617R MMAM P22033/K621N MMAM P22033/G623R MMAM P22033/Q624R MMAM P22033/G626C MMAM P22033/H627R MMAM P22033/G630E MMAM P22033/V633G MMAM P22033/G637E MMAM P22033/G637R MMAM P22033/F638I MMAM P22033/D640Y MMAM P22033/G642R MMAM P22033/G648D MMAM P22033/V669E MMAM P22033/H678R MMAM P22033/E684EL MMAM P22033/L685R MMAM P22033/R694W MMAM P22033/M700K MMAM P22033/G703R MMAM P22033/G717V MMAM Q9UIF7/Y125H FAP2 Q9UIF7/W128R FAP2 Q9UIF7/G148IW FAP2 Q9UIF7/Y176C FAP2 Q9UIF7/R179C FAP2 Q9UIF7/R179H FAP2 Q9UIF7/R182W FAP2 Q9UIF7/R238W FAP2 Q9UIF7/G393D FAP2 Q9UIF7/P402S GASC Q9UIF7/Q411R GASC P04198/R393H FGLDS1 P04198/R393S FGLDS1 P04198/R394H FGLDS1 Q99836/L93P MYD88D Q99836/R196C MYD88D P23409/A90D CNM3 P23409/A112S CNM3 P35749/R1758Q AAT4 Q9BT27/S120L DFNA4A Q9BT27/G376C DFNA4A Q9BT27/R726S DFNA4A Q9BT27/R933L PNMHH Q9BT27/L976F DFNA4A Q9UKX2/E706K IBM3 P11055/T178I DA2A and DA2B P11055/S261F DA2B P11055/S292C DA2B P11055/E375K DA2B P11055/E498G DA2A P11055/D517Y DA2B P11055/Y583S DA2A P11055/R672C DA2A P11055/R672H DA2A P11055/G769V DA2B P11055/V825D DA2A P11055/K838E DA2B P11055/D1622A DA2B P11055/A1637V DA2B P13533/R721W SSS3 P13533/R795Q CMH14 P13533/I820N ASD3 P13533/P830L CMD1EE P13533/A1004S CMD1EE P13533/Q1065H CMH14 P13533/E1457K CMD1EE Q92679/A26V CMH1 Q92679/V39M CMH1 Q92679/V59I CMH1 Q92679/Y115H CMH1 Q92679/T124I CMH1 Q92679/R143G CMH1 Q92679/R143Q CMH1 Q92679/R143W CMH1 Q92679/K146N CMH1 Q92679/S148I CMH1 Q92679/Y162C CMH1 Q92679/V186L CMH1 Q92679/N187K CMH1 Q92679/T188N CMH1 Q92679/R190T CMH1 Q92679/A196T CMH1 Q92679/I201T CMD1S Q92679/R204H CMH1 Q92679/K207Q CMH1 Q92679/P211L CMH1 Q92679/Q222K CMH1 Q92679/A223T CMD1S Q92679/L227V CMH1 Q92679/N232S CMH1 Q92679/F244L CMH1 Q92679/R249Q CMH1 Q92679/G256E CMH1 Q92679/I263M CMH1 Q92679/I263T CMH1 Q92679/F312C CMH1 Q92679/V320M CMH1 Q92679/E328G CMH1 Q92679/M349T CMH1 Q92679/K351E CMH1 Q92679/A355T CMH1 Q92679/K383N CMH1 Q92679/A385V CMH1 Q92679/L390V CMH1 Q92679/R403L CMH1 Q92679/R403Q CMH1 Q92679/R403W CMH1 Q92679/V404L CMH1 Q92679/V404M CMH1 Q92679/V406M CMH1 Q92679/G407V CMH1 Q92679/V411I CMH1 Q92679/T412N CMD1S Q92679/G425R CMH1 Q92679/A428V CMH1 Q92679/A430E CMH1 Q92679/M435T CMH1 Q92679/V440M CMH1 Q92679/T441M MPD1 Q92679/I443T CMH1 Q92679/K450E CMH1 Q92679/K450T CMH1 Q92679/R453C CMH1 Q92679/R453H CMH1 Q92679/N479S CMH1 Q92679/E483K CMH1 Q92679/E499K CMH1 Q92679/E500A CMH1 Q92679/Y501C CMH1 Q92679/I511F CMH1 Q92679/I511T CMH1 Q92679/F513C CMH1 Q92679/M515R CMH1 Q92679/M515V CMH1 Q92679/L517M CMH1 Q92679/S532P CMD1S Q92679/A550V CMD1S Q92679/G571R CMH1 Q92679/H576R CMH1 Q92679/G584R CMH1 Q92679/G584S CMH1 Q92679/D587V CMH1 Q92679/Q595R CMH1 Q92679/L601V CMH1 Q92679/N602S CMH1 Q92679/V606M CMH1 Q92679/K615N CMH1 Q92679/K615Q CMH1 Q92679/S642L CMD1S Q92679/M659I CMH1 Q92679/R663C CMH1 Q92679/R663H CMH1 Q92679/R663S CMH1 Q92679/R671C CMH1 Q92679/R694C CMH1 Q92679/R694H CMH1 Q92679/N696S CMH1 Q92679/V698A CMH1 Q92679/R712L CMH1 Q92679/G716R CMH1 Q92679/R719Q CMH1 Q92679/R719W CMH1 Q92679/R723C CMH1 Q92679/R723G CMH1 Q92679/A728V CMH1 Q92679/P731L CMH1 Q92679/G733E CMH1 Q92679/Q734E CMH1 Q92679/Q734P CMH1 Q92679/I736M CMH1 Q92679/I736T CMH1 Q92679/G741R CMH1 Q92679/G741W CMH1 Q92679/A742E CMH1 Q92679/E743D CMH1 Q92679/V763G CMH1 Q92679/V763M CMH1 Q92679/F764L CMD1S Q92679/G768R CMH1 Q92679/E774V CMH1 Q92679/D778E CMH1 Q92679/D778G CMH1 Q92679/D778V CMH1 Q92679/S782N CMH1 Q92679/R787C CMH1 Q92679/R787H CMH1 Q92679/L796F CMH1 Q92679/A797T CMH1 Q92679/M822L CMH1 Q92679/M822T CMH1 Q92679/G823E CMH1 Q92679/V824I CMH1 Q92679/E846Q CMH1 Q92679/M852T CMH1 Q92679/R858C CMH1 Q92679/R858H CMH1 Q92679/R869C CMH1 Q92679/R869G CMH1 Q92679/R869H CMH1 Q92679/R870C CMH1 Q92679/R870H CMH1 Q92679/M877K CMH1 Q92679/Q882E CMH1 Q92679/E894G CMH1 Q92679/A901G CMH1 Q92679/C905F CMH1 Q92679/D906G CMH1 Q92679/L908V CMH1 Q92679/E921K CMH1 Q92679/E924K CMH1 Q92679/E924Q CMH1 Q92679/E927K CMH1 Q92679/D928N CMH1 Q92679/E930K CMH1 Q92679/E931K CMH1 Q92679/E935K CMH1 Q92679/E949K CMH1 Q92679/D953H CMH1 Q92679/T1019N CMD1S Q92679/V1044A CMD1S Q92679/G1057D CMH1 Q92679/G1057S CMH1 Q92679/L1135R CMH1 Q92679/R1193S CMD1S Q92679/E1218Q CMH1 Q92679/A1263E CMD1S Q92679/L1297V CMD1S Q92679/N1327K CMH1 Q92679/E1356K CMH1 Q92679/T1377M CMH1 Q92679/A1379T CMH1 Q92679/R1382W CMH1 Q92679/L1414M CMH1 Q92679/R1420W CMH1 Q92679/E1426K CMD1S Q92679/A1454T CMH1 Q92679/K1459N CMH1 Q92679/R1500P MPD1 Q92679/T1513S CMH1 Q92679/E1555K CMH1 Q92679/R1634C CMD1S Q92679/A1663P MPD1 Q92679/L1706P MPD1 Q92679/R1712W CMH1 Q92679/E1753K CMH1 Q92679/E1768K CMH1 Q92679/S1776G CMH1 Q92679/A1777T CMH1 Q92679/R1845W MYOMS and SPMM Q92679/T1854M CMH1 Q92679/E1883K CMH1 Q92679/H1901L MYOMS Q92679/T1929M CMH1 P13535/R674Q CACOV and DA7 P35579/N93K MHA P35579/A95T MHA P35579/S96L EPS P35579/K373N MHA and SBS P35579/R702C APSM, EPS, NS, MHA and SBS P35579/R702H APSM and EPS P35579/R705H DFNA17 P35579/K910Q NS P35579/S1114P APSM P35579/T1155I MHA and NS P35579/R1165C NS and SBS P35579/R1165L NS, MHA and SBS P35579/D1424H NS and MHA P35579/D1424N NS, MHA, SBS and MPSD P35579/D1424Y MHA P35579/I1816V EPS P35579/E1841K NS, SBS, MHA and EPS P08590/E56G CMH8 P08590/E143K CMH8 P08590/M149V CMH8 P08590/R154H CMH8 Q9H1R3/A87V CMH Q9H1R3/A95E CMH Q5MY99/S1759P AAT7 Q9UKN7/N2111Y DFNB3 Q9UKN7/I2113F DFNB3 Q9UKN7/Q2716H DFNB3 Q9UBC5/S116SS DFNA48 Q9UBC5/V306M DFNA48 Q9UBC5/E385D DFNA48 Q9UBC5/G662E DFNA48 Q9UBC5/G674D DFNA48 Q9UBC5/S797F DFNA48 Q9UBC5/S910P DFNA48 Q12965/A159P FSGS6 Q9ULV0/V108G DIAR2 Q9ULV0/R219H DIAR2 Q9ULV0/R656C DIAR2 Q9UM54/E216V DFNB37 Q9UM54/H246R DFNHCM Q9UM54/C442Y DFNA22 Q13402/L16S USH1B Q13402/G25R USH1B Q13402/A26E USH1B Q13402/V67M USH1B Q13402/R90P USH1B Q13402/H133D USH1B Q13402/I134N USH1B Q13402/G163R USH1B Q13402/K164R USH1B Q13402/T165M USH1B Q13402/T193I LCA Q13402/A198T USH1B Q13402/T204A USH1B Q13402/R212C USH1B Q13402/R212H USH1B Q13402/G214R USH1B Q13402/R241C USH1B Q13402/R241S USH1B Q13402/R244P DFNB2 Q13402/R302H USH1B Q13402/A397D USH1B Q13402/E450Q USH1B Q13402/A457V USH1B Q13402/N458I DFNA11 Q13402/H468HQ USH1B Q13402/P503L USH1B Q13402/G519D USH1B Q13402/M599I DFNB2 Q13402/L651P USH1B Q13402/G722R DFNA11 Q13402/R756W USH1B Q13402/A826T USH1B Q13402/R853C DFNA11 Q13402/G955S USH1B Q13402/E968D USH1B Q13402/L1087P USH1B Q13402/E1170K USH1B Q13402/R1240Q USH1B Q13402/A1288P USH1B Q13402/E1327K USH1B Q13402/R1343S USH1B Q13402/T1566M USH1B Q13402/R1602Q USH1B Q13402/A1628S USH1B Q13402/Y1719C USH1B Q13402/R1743W USH1B Q13402/L1858P USH1B Q13402/R1873W USH1B Q13402/R1883Q USH1B Q13402/P1887L USH1B Q13402/G2137E USH1B Q13402/G2163S USH1B Q13402/G2187D USH1B Q99972/C25R GLC1A Q99972/Q48H GLC1A and GLC3A Q99972/V53A GLC1A Q99972/R82C GLC1A Q99972/R126W GLC1A Q99972/R158Q GLC1A Q99972/D208E GLC1A Q99972/G244V GLC1A Q99972/C245Y GLC1A Q99972/G246R GLC1A Q99972/V251A GLC1A Q99972/G252R GLC1A Q99972/E261K GLC1A Q99972/R272G GLC1A Q99972/P274R GLC1A Q99972/W286R GLC1A Q99972/T293K GLC1A Q99972/E300K GLC1A Q99972/E323K GLC1A Q99972/Q337E GLC1A Q99972/Q337R GLC1A Q99972/S341P GLC1A Q99972/R342K GLC1A Q99972/I345M GLC1A Q99972/E352K GLC1A Q99972/T353I GLC1A Q99972/I360N GLC1A Q99972/P361S GLC1A Q99972/A363T GLC1A Q99972/G364V GLC1A Q99972/G367R GLC1A Q99972/F369L GLC1A Q99972/P370L GLC1A Q99972/T377K GLC1A Q99972/T377M GLC1A Q99972/D380A GLC1A Q99972/D380G GLC1A Q99972/D380H GLC1A Q99972/D380N GLC1A Q99972/S393N GLC1A Q99972/S393R GLC1A Q99972/G399V GLC1A Q99972/R422H GLC1A Q99972/K423E GLC1A Q99972/V426F GLC1A Q99972/A427T GLC1A Q99972/C433R GLC1A Q99972/G434S GLC1A Q99972/Y437H GLC1A Q99972/T438I GLC1A Q99972/A445V GLC1A Q99972/T448P GLC1A Q99972/N450D GLC1A Q99972/I465M GLC1A Q99972/R470C GLC1A Q99972/Y471C GLC1A Q99972/I477N GLC1A Q99972/I477S GLC1A Q99972/N480K GLC1A Q99972/P481L GLC1A Q99972/P481T GLC1A Q99972/I499F GLC1A Q99972/I499S GLC1A Q99972/S502P GLC1A Q9UBF9/S39F SBM Q9UBF9/S55F LGMD1A and MFM3 Q9UBF9/T57I LGMD1A Q9UBF9/S60C MFM3 Q9UBF9/S60F MFM3 Q9UBF9/S95I MFM3 Q9NPC6/S48P CMH16 Q9NPC6/I246M CMH16 P25189/I30M CMT1B P25189/V32F CMT1B P25189/T34I CMT1B P25189/D35Y CMTDID P25189/H39P CMT1B P25189/S44F CMT2I and CMT1B P25189/S51F CMT1B P25189/S54C CMT1B P25189/S54P CMT1B P25189/E56K CMT2 P25189/V58F CMT1B P25189/D60H CMT2I P25189/D61G CMT2 P25189/I62F CMT1B P25189/I62M CMT2I P25189/S63C DSS P25189/S63F CMT1B P25189/T65A CMT1B P25189/T65I CMT1B P25189/Y68C CMT1B P25189/D75V CMT2J P25189/S78L CMT1B P25189/S78W CMT1B P25189/H81R CMT1B P25189/H81Y CMT P25189/Y82C CMT1B and DSS P25189/I89N CMT2I P25189/D90E CMT1B P25189/V92M CMT2I P25189/G93E CMT1B P25189/K96E CMT1B P25189/E97V CMT2J P25189/R98C CMT1B P25189/R98H CMT1B P25189/R98P CMT1B P25189/R98S CMT1B P25189/I99T CMT1B P25189/W101C CMT1B P25189/G103E CMT1B P25189/D109N CMT1B P25189/G110D DSS P25189/I112T CMT1B P25189/V113F CMT P25189/V113I CMT2 P25189/I114T DSS P25189/N116H DSS P25189/D118DFY DSS P25189/D118N CMT2I P25189/Y119C CMT2 P25189/N122S CMT1B P25189/G123C DSS and CMT1B P25189/T124K CHN P25189/T124M CMT1B and CMT2J P25189/C127Y DSS P25189/D128E CMT1B P25189/D128N DSS P25189/K130R CMT1B and DSS P25189/N131K ROULS P25189/P132L CMT1B P25189/D134E CMT1B P25189/D134G CMT1B P25189/D134N CMT1B P25189/I135L CMT1B and DSS P25189/I135T CMT1B P25189/V136E DSS P25189/G137S CMT1B P25189/K138N CMT1B P25189/T139N CMT1B P25189/S140T CMT1B P25189/T143M CMT1B P25189/Y145S CMT1B P25189/V146F CMT1B P25189/I162M CMT2I P25189/G163R CMT1B P25189/G167A CMT1B and DSS P25189/G167R DSS and CMT P25189/L170R CMT1B P25189/T216ER CMT1B P25189/A221T DSS P25189/D224Y CMT1B P25189/R227S CMT1B P25189/K236E CMT2I G3XAE8/W211R DA1B G3XAE8/Y849H DA1B Q14896/G5R CMH4 Q14896/T59A CMH4 Q14896/P161S CMH4 Q14896/V219L CMH4 Q14896/D228N CMH4 Q14896/Y237S CMH4 Q14896/V256I CMH4 Q14896/H257P CMH4 Q14896/E258K CMH4 Q14896/G263R CMH4 Q14896/R273H CMH4 Q14896/G278E CMH4 Q14896/G279A CMH4 Q14896/R282W CMH4 Q14896/L352P CMH4 Q14896/A417S CMH4 Q14896/E451Q CMH4 Q14896/R458H CMH4 Q14896/G490R CMH4 Q14896/R495G CMH4 Q14896/R495Q CMH4 Q14896/R502Q CMH4 Q14896/R502W CMH4 Q14896/G507R CMH4 Q14896/G523W CMH4 Q14896/E542Q CMH4 Q14896/C566R CMH4 Q14896/D604V CMH4 Q14896/D605N CMH4 Q14896/P608L CMH4 Q14896/R654H CMH4 Q14896/R668H CMH4 Q14896/R668P CMH4 Q14896/L669H CMH4 Q14896/R733C CMH4 Q14896/N755K CMH4 Q14896/E759D CMH4 Q14896/D770N CMH4 Q14896/W792R CMH4 Q14896/R810H CMH4 Q14896/K811R CMH4 Q14896/R820Q CMH4 Q14896/A833T CMH4 Q14896/A833V CMH4 Q14896/R834T CMH4 Q14896/R834W CMH4 Q14896/P873H CMH4 Q14896/N948T CMH4 Q14896/Q998E CMH4 Q14896/Q998R CMH4 Q14896/R1002Q CMH4 Q14896/P1003Q CMH4 Q14896/T1028S CMH4 Q14896/F1113I CMH4 Q14896/V1115I CMH4 Q14896/I1131T CMH4 Q14896/A1194T CMH4 Q14896/G1248R CMH4 Q14896/A1255T CMH4 Q86TC9/Y20C CHM22 and CMD1KK Q86TC9/K153R CHM22 Q86TC9/I213V CMD1KK Q86TC9/A217E CHM22 Q86TC9/Y339F CMD1KK Q86TC9/V410A CHM22 Q86TC9/A611T CMD1KK Q86TC9/P841T CHM22 Q86TC9/A882T CMD1KK Q86TC9/F954L CMD1KK Q86TC9/R955W CMD1KK Q86TC9/P961L CMD1KK Q86TC9/R1088H CMD1KK Q86TC9/P1112L CMD1KK and CHM22 Q86TC9/L1161I CHM22 Q86TC9/V1195M CMD1KK Q86TC9/A1265P CHM22 P60201/P15L HLD1 P60201/L31P HLD1 P60201/F32L HLD1 P60201/F32V HLD1 P60201/C33Y HLD1 P60201/C35R HLD1 P60201/C35Y HLD1 P60201/A39T HLD1 P60201/T43I HLD1 P60201/L46P HLD1/SPG2 P60201/L46R HLD1 P60201/Y50C HLD1 P60201/F51S HLD1 P60201/Y60C HLD1 P60201/G74R HLD1 P60201/A76P HLD1 P60201/T116K HLD1 P60201/H130Y SPG2 P60201/R137W SPG2 P60201/H140Y SPG2 P60201/H148Y HLD1/SPG2 P60201/K151N HLD1 P60201/T156I HLD1 P60201/V162E HLD1 P60201/W163R HLD1 P60201/V166E HLD1 P60201/V166G HLD1/SPG2 P60201/C169R HLD1 P60201/S170F SPG2 P60201/S170P HLD1 P60201/V172A HLD1 P60201/P173S HLD1 P60201/Y175C HLD1 P60201/W181C HLD1 P60201/T182P HLD1 P60201/T183N HLD1 P60201/I187T SPG2 P60201/D203E HLD1 P60201/D203G HLD1 P60201/D203H HLD1 P60201/D203N HLD1 P60201/D203V HLD1 P60201/R205G HLD1 P60201/Y207C HLD1 P60201/V209D HLD1 P60201/L210H HLD1 P60201/P211L HLD1 P60201/W212R HLD1 P60201/P216A HLD1 P60201/P216L SPG2 P60201/P216S HLD1 P60201/G217S HLD1 P60201/V219F HLD1 P60201/C220Y HLD1 P60201/G221C HLD1 P60201/L224I HLD1/SPG2 P60201/L224P HLD1 P60201/L225P HLD1 P60201/S226P SPG2 P60201/C228Y HLD1 P60201/Q234P HLD1 P60201/F237S SPG2 P60201/L239P HLD1 P60201/A242P HLD1 P60201/A243E HLD1 P60201/A243V HLD1 P60201/G246A HLD1 P60201/G246E HLD1 P60201/A247T HLD1 P60201/A248E HLD1 P60201/A249P HLD1 P60201/S253F HLD1 P41227/S37P NATD P17050/S160C SCHIND P17050/E325K SCHIND P17050/R329Q KANZD P17050/R329W KANZD Q8N159/C200R NAGSD Q8N159/A279P NAGSD Q8N159/S410P NAGSD Q8N159/L430P NAGSD Q8N159/W484R NAGSD Q8N159/A518T NAGSD Q9C000/M77T CIDED Q6TG35/I174T CINCA Q6TG35/V200M FCAS1 and MWS Q6TG35/R262L CINCA Q6TG35/R262P CINCA Q6TG35/R262W FCAS1 and MWS Q6TG35/L266H CINCA Q6TG35/D305G CINCA Q6TG35/D305N CINCA and MWS Q6TG35/L307P FCAS1 and MWS Q6TG35/Q308L CINCA Q6TG35/F311S CINCA Q6TG35/T350M MWS and CINCA Q6TG35/A354V MWS Q6TG35/L355P FCAS1 Q6TG35/E356D CINCA Q6TG35/H360R CINCA Q6TG35/T407P CINCA Q6TG35/T438I CINCA Q6TG35/T438N CINCA Q6TG35/A441T MWS Q6TG35/A441V FCAS1 Q6TG35/R490K FCAS1 Q6TG35/F525C FCAS1 Q6TG35/F525L CINCA Q6TG35/G571R MWS Q6TG35/Y572C CINCA Q6TG35/F575S CINCA Q6TG35/E629G FCAS1 Q6TG35/L634F CINCA Q6TG35/M664T CINCA Q6TG35/Y861C CINCA Q8WX94/L398R HYDM1 Q8WX94/P651S HYDM1 Q8WX94/R693P HYDM1 Q8WX94/R693Q HYDM1 Q8WX94/R693W HYDM1 Q8WX94/P716A HYDM1 Q8WX94/R721W HYDM1 Q8WX94/C761Y HYDM1 Q8WX94/N913S HYDM1 Q93070/G108V Hy1 and Hy2 Q93070/T117I Jo(a Q93070/N265D Do(b Q93070/L300V Hy1 Q9UL55/R58Q METHB-CYB5R3 Q9UL55/L73P METHB-CYB5R3 Q9UL55/V106M METHB-CYB5R3 Q9UL55/S128P METHB-CYB5R3 Q9UL55/L149P METHB-CYB5R3 Q9UL55/A179V METHB-CYB5R3 Q9UL55/C204R METHB-CYB5R3 Q9UL55/C204Y METHB-CYB5R3 Q9UL55/G292D METHB-CYB5R3 A2RRP1/R1914H SOPH Q6ZNJ1/L388P GPS Q6ZNJ1/E643V GPS Q6ZNJ1/W677R GPS Q6ZNJ1/E1833K GPS Q6ZNJ1/R1839C GPS Q6ZNJ1/P2100L GPS Q6ZNJ1/H2263Y GPS Q6ZNJ1/S2269L GPS O60934/L150F BC Q9BXI8/R42Q CGD1 Q9BV51/N42S CGD2 Q9BV51/G44C CGD2 Q9BV51/G44R CGD2 Q9BV51/R77Q CGD2 Q9BV51/G78E CGD2 Q9BV51/D93E CGD2 Q9BV51/R102P CGD2 Q9BV51/D108V CGD2 Q9BV51/A128V CGD2 Q9BV51/W137R CGD2 Q9BV51/A140D CGD2 Q9BV51/DK160EV CGD2 Q9BV51/Q169E CGD2 Q9BV51/R184P CGD2 Q9BV51/A202V CGD2 Q9BV51/N419I CGD2 Q15080/R105Q CGD3 P16435/Y178D DISPORD P16435/A284P ABS1 and DISPORD P16435/R454H ABS1 and DISPORD P16435/V489E ABS1 P16435/C566Y DISPORD P16435/Y575C ABS1 P16435/V605F DISPORD P16435/LKQDREHLW609R ABS1 Q9UEC8/R111L MODY6 Q00604/L13R ND Q00604/L16P ND Q00604/I18K EVR2 Q00604/R38C ND and EVR2 Q00604/C39R ND Q00604/R41K EVR2 Q00604/H42R EVR2 Q00604/H43Q ND Q00604/H43R ND Q00604/Y44C ND Q00604/V45E ND Q00604/V45M ND Q00604/K54N EVR2 Q00604/C55R ND Q00604/K58N ND and EVR2 Q00604/V60E ND Q00604/L61F ND Q00604/L61I EVR2 Q00604/L61P ND Q00604/A63D ND Q00604/C65W ND Q00604/C65Y ND Q00604/G67E ND Q00604/G67R ND Q00604/C69S ND Q00604/R74C ND Q00604/S75C ND Q00604/S75P ND Q00604/F89L ND Q00604/R90C ND Q00604/R90P ND Q00604/S92P ND Q00604/HCC94QCGL ND Q00604/C95F ND Q00604/C95R ND Q00604/C96W ND Q00604/C96Y ND Q00604/R97P ND Q00604/P98L ND Q00604/S101F ND Q00604/L103V EVR2 Q00604/K104N ND Q00604/K104Q ND Q00604/A105T ND Q00604/C110G ND Q00604/C110R ND Q00604/G112E ND Q00604/R115L EVR2 Q00604/A118D ND Q00604/Y120C EVR2 Q00604/R121G EVR2 Q00604/R121L EVR2 Q00604/R121Q EVR2 and ND Q00604/R121W ND and EVR2 Q00604/I123N ND Q00604/L124F EVR2 Q00604/C126S ND Q00604/C128R ND O15239/G8R MT-C1D O15239/R37S MT-C1D Q9BU61/G77R MT-C1D Q9BU61/R122P MT-C1D Q9P032/L65P MT-C1D Q5TEU4/L159F LS Q5TEU4/L229P MT-C1D Q330K2/Q99R MT-C1D Q8TCC9/R241W MT-C1D Q8TCC9/D252G MT-C1D O75306/R228Q MT-C1D O75306/P229Q MT-C1D O75306/S413P MT-C1D O75251/V122M MT-C1D O00217/P79L LS O00217/R102H LS P49821/E214K MT-C1D P49821/A341V MT-C1D P49821/T423M LS P29120/S307L PC1 deficiency P29120/G483R PC1 deficiency Q96FI4/K242R RNA edited version Q9Y594/G145R SRPS2A Q9Y594/L253S SRPS2A Q86SG6/L330F NPHP9 Q86SG6/H425Y NPHP9 Q86SG6/A497P NPHP9 Q9Y6K9/E57K IP Q9Y6K9/R123W IP Q9Y6K9/L153R EDAID Q9Y6K9/R173G IPD2 Q9Y6K9/R175P EDAID Q9Y6K9/L227P EDAID Q9Y6K9/A288G EDAID Q9Y6K9/D311N EDAID Q9Y6K9/E315A AMCBX1 Q9Y6K9/R319Q AMCBX1 Q9Y6K9/A323P IP Q9Y6K9/D406V EDAID Q9Y6K9/M407V IP Q9Y6K9/C417F EDAID Q9Y6K9/C417R EDAID Q9Y6K9/C417Y NEMOID Q92979/D86G BWCNS P01185/S17F NDI P01185/A19T NDI P01185/A19V NDI P01185/Y21H NDI P01185/P26L NDI P01185/G45R NDI P01185/G48V NDI P01185/R51C NDI P01185/C52R NDI P01185/G54R NDI P01185/G54V NDI P01185/P55L NDI P01185/C58F NDI P01185/C59R NDI P01185/C59Y NDI P01185/V67A NDI P01185/E78G NDI P01185/L81P NDI P01185/S87F NDI P01185/G88R NDI P01185/G88S NDI P01185/C92S NDI P01185/C92Y NDI P01185/G93W NDI P01185/G96C NDI P01185/G96D NDI P01185/G96V NDI P01185/R97C NDI P01185/R97P NDI P01185/C98G NDI P01185/C98S NDI P01185/A99P NDI P01185/C104F NDI P01185/C104G NDI P01185/C105R NDI P01185/C105Y NDI P01185/C116G NDI P01185/C116R NDI P01185/C116W NDI Q99519/V54M SIALIDOSIS Q99519/G68V SIALIDOSIS Q99519/P80L SIALIDOSIS Q99519/L91R SIALIDOSIS Q99519/S182G SIALIDOSIS Q99519/V217M SIALIDOSIS Q99519/G219A SIALIDOSIS Q99519/R225P SIALIDOSIS Q99519/G227R SIALIDOSIS Q99519/L231H SIALIDOSIS Q99519/W240R SIALIDOSIS Q99519/G243R SIALIDOSIS Q99519/F260Y SIALIDOSIS Q99519/L270F SIALIDOSIS Q99519/L270P SIALIDOSIS Q99519/R294S SIALIDOSIS Q99519/A298V SIALIDOSIS Q99519/P316S SIALIDOSIS Q99519/G328S SIALIDOSIS Q99519/P335Q SIALIDOSIS Q99519/R341G SIALIDOSIS Q99519/L363P SIALIDOSIS Q99519/Y370C SIALIDOSIS Q99519/Y400YHY SIALIDOSIS Q99574/S49P FEN1B Q99574/S52R FEN1B Q96DL0/Q131E CMH20 Q96DL0/R279C CMH20 Q96DL0/P611T CMD1CC Q96DL0/Y652C CMD1CC P21359/H31R NF1 P21359/S82F NF1 P21359/C93Y NF1 P21359/I117S NF1 P21359/L145P NF1 P21359/I157N NF1 P21359/R160T NF1 P21359/D186V NF1 P21359/L194R NFNS P21359/L216P NF1 P21359/C324R NF1 P21359/E337V NF1 P21359/D338G NF1 P21359/L357P NF1 P21359/Y489C NF1 P21359/Y491C NF1 P21359/L508P NF1 P21359/L532P NF1 P21359/L549P NF1 P21359/S574R NF1 P21359/L578R NF1 P21359/I581T NF1 P21359/K583R NF1 P21359/L604V NF1 P21359/G629R NF1 P21359/S665F NF1 P21359/L695P NF1 P21359/L763P NF1 P21359/W777S NF1 P21359/T780K NF1 P21359/H781P NF1 P21359/W784C NF1 P21359/W784R NF1 P21359/L844F NF1 P21359/L844P NF1 P21359/L844R NF1 P21359/L847P NF1 P21359/G848E NF1 P21359/L898P NF1 P21359/L920P NF1 P21359/M968R NF1 P21359/M1035R NF1 P21359/M1073V NF1 P21359/L1147P NF1 P21359/N1156S NF1 P21359/G1166D NF1 P21359/F1193C NF1 P21359/L1196R NF1 P21359/R1204G NF1 P21359/R1204W NF1 P21359/L1243P NF1 P21359/R1250P NF1 P21359/R1276G NF1 P21359/R1276P NF1 P21359/R1276Q NF1 and mismatch repair deficient cancer cells P21359/L1411F NFNS P21359/R1412S NF1 P21359/K1430E NF1 P21359/K1440Q NF1 P21359/K1440R NF1 P21359/K1444E NF1 and NFNS P21359/K1444N NF1 P21359/K1444R NF1 P21359/L1446P NF1 P21359/N1451T NFNS P21359/V1453L NFNS P21359/S1489G NF1 P21359/I1605V NF1 P21359/R1611W NF1 P21359/L1733LGHEQQKLPAATLAL NF1 P21359/A1785S NF1 P21359/W1952R NF1 P21359/L1953P NF1 P21359/G2001R NF1 P21359/D2012N NF1 P21359/L2088P FSNF P21359/L2164M NF1 P21359/Y2192N NF1 P21359/P2221A NF1 P21359/E2357K NF1 P21359/T2507I NF1 P21359/T2631A NF1 Q9Y6R8/L60P SOTOS2 Q9Y6R8/R121P SOTOS2 P07196/P8L CMT1F P07196/P8Q CMT1F P07196/P8R CMT2E and CMT1F P07196/P22S CMT2E P07196/E90K CMT1F P07196/N98S CMT1F P07196/Q332P CMT2E P07196/L336P CMT2E P07196/E396K CMT1F and CMT2E Q9UMS0/G208C MMDS1 P01138/E162EGE HSAN5 P01138/R221W HSAN5 Q9Y4Z2/R93L DIAR4 Q9Y4Z2/R107S DIAR4 Q9H9Q4/R57G NHEJ1-SCID Q9H9Q4/C123R NHEJ1-SCID Q6VVB1/S22R EPM2 Q6VVB1/C26S EPM2 Q6VVB1/F33S EPM2 Q6VVB1/E67Q EPM2 Q6VVB1/C68Y EPM2 Q6VVB1/P69A EPM2 Q6VVB1/L87P EPM2 Q6VVB1/L126P EPM2 Q6VVB1/D146N EPM2 Q6VVB1/I153M EPM2 Q6VVB1/C160R EPM2 Q6VVB1/I198N EPM2 Q6VVB1/W219R EPM2 Q6VVB1/D233A EPM2 Q6VVB1/D245N EPM2 Q6VVB1/R253K EPM2 Q6VVB1/P264H EPM2 Q6VVB1/L279P EPM2 Q6VVB1/Q302P EPM2 Q6VVB1/D308A EPM2 Q9NX24/V126M DKCB2 Q9NX24/Y139H DKCB2 O14745/E68A NPHLOP2 O14745/L110V NPHLOP2 O14745/R153Q NPHLOP2 O14745/E225K NPHLOP2 Q92542/P211R ACNINV1 Q9UH61/Q1222R SCKL7 Q9UH61/N1709S SCKL7 Q7RTP0/T45R SPG6 Q7RTP0/G106R SPG6 Q0D2K0/G142V ARCI6 Q0D2K0/A176D ARCI6 Q0D2K0/S208F ARCI6 Q0D2K0/G230R ARCI6 Q0D2K0/H237N ARCI6 Q0D2K0/G297R ARCI6 Q6KC79/A1246G CDLS1 Q6KC79/C1311R CDLS1 Q6KC79/L1312P CDLS1 Q6KC79/L1348R CDLS1 Q6KC79/R1789L CDLS1 Q6KC79/D1803V CDLS1 Q6KC79/R1856T CDLS1 Q6KC79/G2081A CDLS1 Q6KC79/S2090I CDLS1 Q6KC79/L2150P CDLS1 Q6KC79/R2298C CDLS1 Q6KC79/R2298H CDLS1 Q6KC79/G2312R CDLS1 Q6KC79/G2381A CDLS1 Q6KC79/A2390T CDLS1 Q6KC79/Y2430C CDLS1 Q6KC79/Y2440H CDLS1 P29371/G93D HH11 P29371/P353S HH11 P29371/R364Q HH11 P43699/V205F CHNRD P43699/W208L BHC P43699/R213S BHC P52952/L7P ASD7 P52952/K15I ASD7 P52952/N19S ASD7 P52952/E21Q TOF and ASD7 P52952/Q22P ASD7 and TOF P52952/R25C ASD7, TOF, CHNG5 and HLHS2 P52952/S45P ASD7 P52952/F51L ASD7 P52952/P59A VSD3 P52952/A63V ASD7 P52952/L69P ASD7 P52952/P77L ASD7 P52952/C114R ASD7 P52952/C114S ASD7 P52952/K118R ASD7 P52952/A119S CHNG5 P52952/K124R ASD7 P52952/E126V ASD7 P52952/A127E ASD7 P52952/P133S ASD7 P52952/A135T ASD7 P52952/R142C ASD7 P52952/L144P ASD7 P52952/R161P CHNG5 P52952/T178M ASD7 P52952/K183E ASD7 P52952/Q187H ASD7 P52952/N188K ASD7 P52952/R189G ASD7 P52952/R190C ASD7 P52952/Y191C ASD7 P52952/K192R ASD7 P52952/K192T ASD7 P52952/K194R ASD7 P52952/V205E ASD7 P52952/R216C TOF and ASD7 P52952/A219V ASD7 and TOF P52952/D226N ASD7 P52952/P236H ICAS P52952/Y248H ASD7 P52952/P275T ASD7 P52952/S279F ASD7 P52952/S279P ASD7 P52952/A281V ASD7 P52952/P283Q VSD3 P52952/A286V ASD7 P52952/N294H ASD7 P52952/D299G ASD7 P52952/S305G ASD7 P52952/G320S ASD7 P52952/R322Q ASD7 P52952/A323T ASD7 and TOF A6NCS4/F151L CTHM Q9NZ97/R451C AUTSX1 and ASPGX1 Q12879/N615K EPND Q13224/P553L MRD6 Q13224/R682C MRD6 Q5VSF4/S560SS MRD8 Q5VSF4/E662K MRD8 Q9HAN9/V9M LCA9 Q9HAN9/A13T LCA9 Q9HAN9/I20N LCA9 Q9HAN9/D33G LCA9 Q9HAN9/M35T LCA9 Q9HAN9/A54V LCA9 Q9HAN9/R66W LCA9 Q9HAN9/V67F LCA9 Q9HAN9/M69V LCA9 Q9HAN9/L72H LCA9 Q9HAN9/V98G LCA9 Q9HAN9/A147P LCA9 Q9HAN9/V151F LCA9 Q9HAN9/L153P LCA9 Q9HAN9/L153V LCA9 Q9HAN9/G156R LCA9 Q9HAN9/D173G LCA9 Q9HAN9/V178M LCA9 Q9HAN9/Y181C LCA9 Q9HAN9/I184M LCA9 Q9HAN9/R207W LCA9 Q9HAN9/I217N LCA9 Q9HAN9/R237C LCA9 Q9HAN9/R237L LCA9 Q9HAN9/L239S LCA9 Q9HAN9/H251P LCA9 Q9HAN9/E257K LCA9 Q9HAN9/N273D LCA9 Q13423/S193N GCCD4 Q13423/T357A GCCD4 Q13423/H365P GCCD4 Q13423/P437L GCCD4 Q13423/A533V GCCD4 Q13423/G664R GCCD4 Q13423/G678R GCCD4 Q13423/G862D GCCD4 Q13423/L977P GCCD4 Q13423/A1008P GCCD4 Q13423/N1009K GCCD4 O60393/G91W POF5 O60393/S342T POF5 O60393/V350L POF5 O60393/R355H POF5 Q9HC29/R334Q BS Q9HC29/R334W BS Q9HC29/D382E EOS Q9HC29/E383K BS Q9HC29/L469F BS Q9HC29/H496L EOS Q9HC29/T605N BS Q9HC29/A612T EOS Q96S42/R183Q HTX5 Q96S42/E203K HTX5 Q96S42/G260R HTX5 Q96S42/R275C HTX5 Q96S42/V284F HTX5 Q13253/P35A BDB2 Q13253/P35R SYM1A and TCC Q13253/P35S SYM1A and BDB2 Q13253/A36P BDB2 Q13253/E48K BDB2 Q13253/R167G BDB2 Q13253/C184Y SYM1A Q13253/P187S BDB2 Q13253/G189C SYM1A Q13253/R204L TCC Q13253/W205C SYM1A Q13253/W217G SYNS1 Q13253/I220N SYM1A Q13253/Y222C SYM1A and TCC Q13253/Y222D SYM1A Q13253/P223L SYM1A Q13253/C232W SYNS1 O60936/E21Q FCM Q9NPE3/R34W DKCB1 Q04721/C444Y ALGS2 Q9UM47/C43G CADASIL Q9UM47/C49F CADASIL Q9UM47/C49Y CADASIL Q9UM47/R54C CADASIL Q9UM47/S60C CADASIL Q9UM47/C65S CADASIL Q9UM47/C67Y CADASIL Q9UM47/W71C CADASIL Q9UM47/C76R CADASIL Q9UM47/C76W CADASIL Q9UM47/C87R CADASIL Q9UM47/C87Y CADASIL Q9UM47/R90C CADASIL Q9UM47/C93F CADASIL Q9UM47/C93Y CADASIL Q9UM47/C106W CADASIL Q9UM47/C108W CADASIL Q9UM47/C108Y CADASIL Q9UM47/R110C CADASIL Q9UM47/C117F CADASIL Q9UM47/S118C CADASIL Q9UM47/C123F CADASIL Q9UM47/C123Y CADASIL Q9UM47/C128Y CADASIL Q9UM47/R133C CADASIL Q9UM47/C134W CADASIL Q9UM47/R141C CADASIL Q9UM47/F142C CADASIL Q9UM47/C144F CADASIL Q9UM47/C144S CADASIL Q9UM47/C144Y CADASIL Q9UM47/S145C CADASIL Q9UM47/C146R CADASIL Q9UM47/G149C CADASIL Q9UM47/Y150C CADASIL Q9UM47/R153C CADASIL Q9UM47/C155S CADASIL Q9UM47/C162S CADASIL Q9UM47/R169C CADASIL Q9UM47/G171C CADASIL Q9UM47/C174F CADASIL Q9UM47/C174R CADASIL Q9UM47/C174Y CADASIL Q9UM47/S180C CADASIL Q9UM47/R182C CADASIL Q9UM47/C183F CADASIL Q9UM47/C183R CADASIL Q9UM47/C183S CADASIL Q9UM47/C185G CADASIL Q9UM47/C185R CADASIL Q9UM47/Y189C CADASIL Q9UM47/C194F CADASIL Q9UM47/C194R CADASIL Q9UM47/C194S CADASIL Q9UM47/C194Y CADASIL Q9UM47/C201Y CADASIL Q9UM47/C206Y CADASIL Q9UM47/R207C CADASIL Q9UM47/C212S CADASIL Q9UM47/R213K CADASIL Q9UM47/C222G CADASIL Q9UM47/C222Y CADASIL Q9UM47/C224Y CADASIL Q9UM47/C233S CADASIL Q9UM47/C233Y CADASIL Q9UM47/C240S CADASIL Q9UM47/C245R CADASIL Q9UM47/C251R CADASIL Q9UM47/Y258C CADASIL Q9UM47/C260Y CADASIL Q9UM47/A319C CADASIL Q9UM47/R332C CADASIL Q9UM47/S335C CADASIL Q9UM47/Y337C CADASIL Q9UM47/C379S CADASIL Q9UM47/C395R CADASIL Q9UM47/G420C CADASIL Q9UM47/R421C CADASIL Q9UM47/C428S CADASIL Q9UM47/C428Y CADASIL Q9UM47/C440G CADASIL Q9UM47/C440R CADASIL Q9UM47/C446S CADASIL Q9UM47/R449C CADASIL Q9UM47/C455R CADASIL Q9UM47/C484F CADASIL Q9UM47/C484Y CADASIL Q9UM47/C495Y CADASIL Q9UM47/C511R CADASIL Q9UM47/C542Y CADASIL Q9UM47/R544C CADASIL Q9UM47/C549Y CADASIL Q9UM47/R558C CADASIL Q9UM47/R578C CADASIL Q9UM47/R607C CADASIL Q9UM47/R728C CADASIL Q9UM47/C775S CADASIL Q9UM47/G953C CADASIL Q9UM47/F984C CADASIL Q9UM47/R985C CADASIL Q9UM47/R1006C CADASIL Q9UM47/C1015R CADASIL Q9UM47/Y1021C CADASIL Q9UM47/R1031C CADASIL Q9UM47/D1063C CADASIL Q9UM47/R1231C CADASIL Q9UM47/C1261R CADASIL Q9UM47/C1261Y CADASIL Q9UM47/L1519P IMF2 O15118/C63R NPC1 O15118/C74Y NPC1 O15118/Q92R NPC1 O15118/C113R NPC1 O15118/T137M NPC1 O15118/P166S NPC1 O15118/C177G NPC1 O15118/C177Y NPC1 O15118/N222S NPC1 O15118/V231G NPC1 O15118/P237S NPC1 O15118/D242H NPC1 O15118/D242N NPC1 O15118/C247Y NPC1 O15118/G248V NPC1 O15118/M272R NPC1 O15118/R372W NPC1 O15118/V378A NPC1 O15118/L380F NPC1 O15118/A388P NPC1 O15118/R389C NPC1 O15118/P401T NPC1 O15118/R404P NPC1 O15118/R404Q NPC1 O15118/R404W NPC1 O15118/P433L NPC1 O15118/P434L NPC1 O15118/E451K NPC1 O15118/S473P NPC1 O15118/P474L NPC1 O15118/C479Y NPC1 O15118/Y509S NPC1 O15118/H510P NPC1 O15118/H512R NPC1 O15118/R518Q NPC1 O15118/R518W NPC1 O15118/A521S NPC1 O15118/F537L NPC1 O15118/P543L NPC1 O15118/T574K NPC1 O15118/K576R NPC1 O15118/A605V NPC1 O15118/E612D NPC1 O15118/R615C NPC1 O15118/R615L NPC1 O15118/M631R NPC1 O15118/G640R NPC1 O15118/S652W NPC1 O15118/G660S NPC1 O15118/V664M NPC1 O15118/S666N NPC1 O15118/C670W NPC1 O15118/G673V NPC1 O15118/L684F NPC1 O15118/P691L NPC1 O15118/L695V NPC1 O15118/D700N NPC1 O15118/F703S NPC1 O15118/L724P NPC1 O15118/V727F NPC1 O15118/S734I NPC1 O15118/E742K NPC1 O15118/A745E NPC1 O15118/M754K NPC1 O15118/F763L NPC1 O15118/A767V NPC1 O15118/Q775P NPC1 O15118/R789C NPC1 O15118/R789G NPC1 O15118/Y825C NPC1 O15118/S849I NPC1 O15118/Q862L NPC1 O15118/S865L NPC1 O15118/Y871C NPC1 O15118/D874V NPC1 O15118/P888S NPC1 O15118/V889M NPC1 O15118/Y890C NPC1 O15118/Y899D NPC1 O15118/G910S NPC1 O15118/D917Y NPC1 O15118/A926T NPC1 O15118/A927V NPC1 O15118/Q928P NPC1 O15118/L929P NPC1 O15118/R934Q NPC1 O15118/S940L NPC1 O15118/W942C NPC1 O15118/I943M NPC1 O15118/D944N NPC1 O15118/D945N NPC1 O15118/D948H NPC1 O15118/D948N NPC1 O15118/D948Y NPC1 O15118/V950M NPC1 O15118/S954L NPC1 O15118/C956Y NPC1 O15118/R958L NPC1 O15118/R958Q NPC1 O15118/V959E NPC1 O15118/NITDQF961S NPC1 O15118/N961S NPC1 O15118/N968S NPC1 O15118/C976R NPC1 O15118/R978C NPC1 O15118/G986S NPC1 O15118/G992A NPC1 O15118/G992R NPC1 O15118/G992W NPC1 O15118/M996R NPC1 O15118/S1004L NPC1 O15118/P1007A NPC1 O15118/G1012D NPC1 O15118/G1015V NPC1 O15118/H1016R NPC1 O15118/V1023G NPC1 O15118/G1034R NPC1 O15118/A1035V NPC1 O15118/T1036K NPC1 O15118/T1036M NPC1 O15118/A1054T NPC1 O15118/R1059Q NPC1 O15118/I1061T NPC1 O15118/A1062V NPC1 O15118/T1066N NPC1 O15118/F1087L NPC1 O15118/Y1088C NPC1 O15118/E1089K NPC1 O15118/I1094T NPC1 O15118/D1097N NPC1 O15118/N1137I NPC1 O15118/G1140V NPC1 O15118/M1142T NPC1 O15118/N1150K NPC1 O15118/N1156I NPC1 O15118/N1156S NPC1 O15118/V1165M NPC1 O15118/F1167L NPC1 O15118/C1168Y NPC1 O15118/A1174V NPC1 O15118/R1186H NPC1 O15118/E1189G NPC1 O15118/T1205K NPC1 O15118/T1205R NPC1 O15118/V1212L NPC1 O15118/L1213F NPC1 O15118/L1213V NPC1 O15118/A1216V NPC1 O15118/F1224L NPC1 O15118/G1236E NPC1 O15118/G1240R NPC1 O15118/S1249G NPC1 P61916/V30M NPDC2 P61916/V39M NPDC2 P61916/C47F NPDC2 P61916/S67P NPDC2 P61916/C93F NPDC2 P61916/C99R NPDC2 P61916/P120S NPDC2 O60500/W64S NPHS1 O60500/L96V NPHS1 O60500/A107T NPHS1 O60500/A107V NPHS1 O60500/P167L NPHS1 O60500/I171N NPHS1 O60500/I173N NPHS1 O60500/TPR205I NPHS1 O60500/R256W NPHS1 O60500/C265R NPHS1 O60500/G270C NPHS1 O60500/R299C NPHS1 O60500/P340H NPHS1 O60500/G347E NPHS1 O60500/S350P NPHS1 O60500/S366R NPHS1 O60500/R367C NPHS1 O60500/P368L NPHS1 O60500/P368S NPHS1 O60500/L376V NPHS1 O60500/R379W NPHS1 O60500/R407W NPHS1 O60500/R408Q NPHS1 O60500/G412C NPHS1 O60500/C417F NPHS1 O60500/R460Q NPHS1 O60500/C465Y NPHS1 O60500/P519S NPHS1 O60500/C528F NPHS1 O60500/R558C NPHS1 O60500/S569R NPHS1 O60500/S572N NPHS1 O60500/P575Q NPHS1 O60500/R586G NPHS1 O60500/L587R NPHS1 O60500/L610Q NPHS1 O60500/C623F NPHS1 O60500/N673K NPHS1 O60500/W681C NPHS1 O60500/V709G NPHS1 O60500/S724C NPHS1 O60500/A739V NPHS1 O60500/I742T NPHS1 O60500/R743C NPHS1 O60500/R802P NPHS1 O60500/R802W NPHS1 O60500/A806D NPHS1 O60500/D819V NPHS1 O60500/V822M NPHS1 O60500/R831C NPHS1 O60500/L832P NPHS1 O60500/V834F NPHS1 O60500/S910P NPHS1 O60500/R976S NPHS1 O60500/R1140C NPHS1 O15259/G342R NPHP1 Q8NCM5/S360T NPHP3 Q8NCM5/N386S NPHP3 Q8NCM5/R397H NPHP3 Q8NCM5/R973Q RHPD1 Q8NCM5/L1141P NPHP3 Q8NCM5/A1221V NPHP3 Q8NCM5/S1252R NPHP3 Q8NCM5/S1314T NPHP3 O75161/D3Y SLSN4 O75161/F91L SLSN4 O75161/R342C NPHP4 O75161/R469W NPHP4 O75161/T627M SLSN4 O75161/A654G NPHP4 O75161/R735W NPHP4 O75161/G754R NPHP4 O75161/Q766R NPHP4 O75161/P776R NPHP4 O75161/H782Q NPHP4 O75161/T946A SLSN4 O75161/R961H NPHP4 O75161/F991S NPHP4 O75161/A1098T NPHP4 O75161/R1192W NPHP4 O75161/T1225M SLSN4 O75161/R1284C NPHP4 O75161/Q1287E NPHP4 Q06495/A48F NPHLOP1 Q06495/V147M NPHLOP1 Q06495/V160VILVTVLV FRTS2 O95436/G106R PALM Q8N130/S138F HHRH Q8N130/S192L HHRH Q8N130/G196R HHRH Q8N130/R353L HHRH Q8N130/A413E HHRH Q8N130/R468W HHRH P51843/R267P XL-AHC P51843/L278P XL-AHC P51843/V287G XL-AHC P51843/W291C XL-AHC P51843/L295P XL-AHC P51843/L297P XL-AHC P51843/A300P XL-AHC P51843/A300V XL-AHC P51843/E377K XL-AHC P51843/Y380D XL-AHC P51843/L381H XL-AHC P51843/K382N XL-AHC P51843/V385G XL-AHC P51843/R425G XL-AHC P51843/R425T XL-AHC P51843/I439S XL-AHC P51843/N440I XL-AHC P51843/L466R XL-AHC Q9Y5X4/G56R RP37 Q9Y5X4/R76Q ESCS Q9Y5X4/R76W ESCS Q9Y5X4/G88V ESCS Q9Y5X4/R97H ESCS Q9Y5X4/R104W ESCS Q9Y5X4/E121K ESCS Q9Y5X4/W234S ESCS Q9Y5X4/A256E ESCS Q9Y5X4/L263P ESCS Q9Y5X4/R309G ESCS Q9Y5X4/R311Q ESCS Q9Y5X4/L336P ESCS Q9Y5X4/L353V ESCS Q9Y5X4/R385P ESCS Q9Y5X4/M407K ESCS Q8IUD7/G212V AHMIO1 Q8IUD7/E399D AHMIO1 Q8IUD7/R416C AHMIO1 P54845/S50T RP27 P54845/L160P RDCP P54845/R170S RP27 Q96L73/H1616L SOTOS1 Q96L73/L1637P SOTOS1 Q96L73/C1674W SOTOS1 Q96L73/I1687N SOTOS1 Q96L73/G1792V SOTOS1 Q96L73/C1925R SOTOS1 Q96L73/G1955D SOTOS1 Q96L73/R1984Q SOTOS1 Q96L73/Y1997C SOTOS1 Q96L73/R2005Q SOTOS1 Q96L73/R2017Q SOTOS1 Q96L73/R2017W SOTOS1 Q96L73/H2143Q SOTOS1 Q96L73/C2183S SOTOS1 Q15738/A105V CHILD Q15738/A182P CHILD Q15738/G205S CHILD Q9NPP3/R196H HH9 Q9NPP3/T480A HH9 Q08J23/G679R MRT5 Q12908/L243P PBAM Q12908/T262M PBAM Q7Z5C3/L93P CIPA Q7Z5C3/L213P CIPA Q7Z5C3/Y359C CIPA Q7Z5C3/E492K CIPA Q7Z5C3/G522R CIPA Q7Z5C3/G577R CIPA Q7Z5C3/M587V CIPA Q7Z5C3/R649W CIPA Q7Z5C3/R654C CIPA Q7Z5C3/D674Y CIPA Q7Z5C3/P695L CIPA Q7Z5C3/G714S CIPA Q7Z5C3/R780P CIPA Q16620/Y706C OHPDD P03886/Y30H LHON P03886/M31T MELAS P03886/M31V AD-MT P03886/A52T LHON P03886/L285P LHON P03886/Y304H LHON P03891/N150D LHON P03891/G259S LHON P03891/A331S AD-MT P03897/S34P MT-C1D P03897/S45P MT-C1D P03897/A47T LS and MT-C1D P03901/V65A LHON P03905/T109A MELAS P03905/V313I LDYT P03905/R340H LHON P03915/F124L LS and MT-C1D P03915/E145G MELAS P03915/A171V LHON P03915/A236T MELAS/LS P03915/M237L MELAS/LHON/LS P03915/S250C MELAS/LS P03915/V253A MT-C1D P03915/D393N MELAS and MT-C1D P03915/A458T LHON P03915/G465E LHON P03923/I26M LDYT P03923/G36S LHON P03923/Y59C LHON P03923/L60S LHON P03923/M63V MT-C1D P03923/M64I LHON P03923/M64V LHON P03923/A72V MT-C1D and LDYT P03923/A74V MELAS Q8TB37/D105Y MT-C1D Q8TB37/L193F MT-C1D P37198/Q391P SNDI Q9GZU5/C31S CSNB1A Q9GZU5/A143P CSNB1A Q9GZU5/P151L CSNB1A Q9GZU5/L155LSVPERLL CSNB1A Q9GZU5/P175R CSNB1A Q9GZU5/L184P CSNB1A Q9GZU5/A187K CSNB1A Q9GZU5/R207RLLR CSNB1A Q9GZU5/R209RCLR CSNB1A Q9GZU5/L213Q CSNB1A Q9GZU5/N216S CSNB1A Q9GZU5/L232P CSNB1A Q9GZU5/N264K CSNB1A Q9GZU5/L285P CSNB1A Q9GZU5/F298S CSNB1A Q9GZU5/L307P CSNB1A Q9GZU5/N312S CSNB1A Q9GZU5/L347P CSNB1A Q9GZU5/G370V CSNB1A P04181/N54K HOGA P04181/Y55H HOGA P04181/N89K HOGA P04181/Q90E HOGA P04181/C93F HOGA P04181/R154L HOGA P04181/R180T HOGA P04181/A226V HOGA P04181/P241L HOGA P04181/Y245C HOGA P04181/R250P HOGA P04181/T267I HOGA P04181/A270P HOGA P04181/R271K HOGA P04181/H319Y HOGA P04181/V332M HOGA P04181/G353D HOGA P04181/G375A HOGA P04181/C394R HOGA P04181/L402P HOGA P04181/P417L HOGA Q8N6K1/F219S BLCPMG Q4VY10/F242S OCRL Q4VY10/I274T OCRL Q4VY10/Q277R OCRL Q4VY10/R318C DD2 and OCRL Q4VY10/R337C OCRL Q4VY10/R337P OCRL Q4VY10/N354H DD2 Q4VY10/G357E OCRL Q4VY10/R361I OCRL Q4VY10/V372G OCRL Q4VY10/N373Y OCRL Q4VY10/S374F OCRL Q4VY10/H375Y OCRL Q4VY10/H414R OCRL Q4VY10/G421E OCRL Q4VY10/N424D OCRL Q4VY10/D451G OCRL Q4VY10/D451N OCRL Q4VY10/R457G OCRL Q4VY10/F463S OCRL Q4VY10/E468G OCRL Q4VY10/E468K OCRL Q4VY10/Y479C DD2 Q4VY10/R493W DD2 Q4VY10/P495L OCRL Q4VY10/C498Y OCRL Q4VY10/D499H OCRL Q4VY10/R500G OCRL Q4VY10/R500Q OCRL Q4VY10/W503R OCRL Q4VY10/V508D OCRL Q4VY10/Y513C OCRL Q4VY10/S522R OCRL Q4VY10/H524Q OCRL Q4VY10/H524R OCRL Q4VY10/P526L OCRL Q4VY10/I533S OCRL Q4VY10/N591K OCRL Q4VY10/I768N OCRL Q4VY10/A797P OCRL Q4VY10/P799L DD2 Q4VY10/P801L OCRL Q4VY10/L891R OCRL P11182/I98M MSUD2 P11182/F276C MSUD2 P11182/G384S MSUD2 P12694/R159W MSUD1A P12694/Q190K MSUD1A P12694/T211M MSUD1A P12694/A220V MSUD1A P12694/A253T MSUD1A P12694/G290R MSUD1A P12694/I326T MSUD1A P12694/R346C MSUD1A P12694/P403PKP MSUD1A P12694/F409C MSUD1A P12694/Y413C MSUD1A P12694/LA427P MSUD1A P12694/Y438N MSUD1A P21953/R170H MSUD1B P21953/R183P MSUD1B P21953/H206R MSUD1B P21953/G278S MSUD1B P21953/Q346R MSUD1B Q9UBU0/R10P PDHAD Q9UBU0/R72C PDHAD Q9UBU0/H113D PDHAD Q9UBU0/G162R PDHAD Q9UBU0/V167M PDHAD Q9UBU0/A199T PDHAD Q9UBU0/F205L X-LS Q9UBU0/M210V PDHAD Q9UBU0/P217L PDHAD Q9UBU0/T231A PDHAD Q9UBU0/Y243N PDHAD Q9UBU0/D258A X-LS Q9UBU0/R263G PDHAD and X-LS Q9UBU0/R263Q PDHAD Q9UBU0/R288H PDHAD Q9UBU0/H292L PDHAD Q9UBU0/R302C PDHAD Q9UBU0/R302H PDHAD Q9UBU0/E305EDSYRTRE PDHAD Q9UBU0/I307IPPHSYRTREEI PDHAD Q9UBU0/D315N PDHAD Q9UBU0/R378H X-LS P11177/Y132C PDHBD P11177/P344S PDHBD O75665/S74F OFD1 O75665/A79T OFD1 O75665/G138S OFD1 O75665/M141R OFD1 O75665/KDD358FSY OFD1 O75665/S435R OFD1 O60313/A8S OPA1 O60313/Y80C OPA1 O60313/T95M OPA1 O60313/Y102C OPA1 O60313/E270K OPA1 O60313/L272P OPA1 O60313/D273A OPA1 O60313/R290Q OPA1 O60313/R290W OPA1 O60313/G300E OPA1 O60313/Q310R OPA1 O60313/A357T OPA1 O60313/I382M OPA1 O60313/L384F OPA1 O60313/L396P OPA1 O60313/L396R OPA1 O60313/P400A OPA1 O60313/N430D OPA1 O60313/D438V OPA1 O60313/R445H OPA1 and DOA+ O60313/T449R OPA1 O60313/I463IFIF OPA1 O60313/K468E OPA1 O60313/D470G OPA1 O60313/E487K OPA1 O60313/T503K OPA1 O60313/K505N OPA1 O60313/S545R OPA1 O60313/C551Y OPA1 O60313/R571H OPA1 O60313/L574P OPA1 O60313/Y582C DOA+ O60313/R590Q OPA1 O60313/R590W OPA1 O60313/L593P OPA1 O60313/S646L OPA1 O60313/N728K OPA1 O60313/G768D OPA1 O60313/R781W OPA1 O60313/Q785R OPA1 O60313/S823Y OPA1 O60313/Y841C OPA1 O60313/R882L OPA1 O60313/L887P OPA1 O60313/R932C OPA1 O60313/L939P OPA1 O60313/L949P OPA1 Q9H6K4/G93S OPA3 Q9H6K4/Q105E OPA3 O60890/P199PEFSLLMNGLKIFIKCL MRXSO Q9UN57/N40D 10% of the population P03999/G79R CBT P03999/S214P CBT P03999/P264S CBT P08100/T4K RP4 P08100/N15S RP4 P08100/T17M RP4 P08100/P23H RP4 P08100/P23L RP4 P08100/Q28H RP4 P08100/L40R RP4 P08100/M44T RP4 P08100/F45L RP4 P08100/L46R RP4 P08100/G51R RP4 P08100/G51V RP4 P08100/P53R RP4 P08100/T58R RP4 P08100/V87D RP4 P08100/G89D RP4 P08100/G90D CSNBAD1 P08100/T94I CSNBAD1 P08100/G106R RP4 P08100/G106W RP4 P08100/G109R RP4 P08100/C110F RP4 P08100/C110Y RP4 P08100/G114D RP4 P08100/L125R RP4 P08100/S127F RP4 P08100/L131P RP4 P08100/R135G RP4 P08100/R135L RP4 P08100/R135W RP4 P08100/C140S RP4 P08100/E150K RP4 P08100/A164E RP4 P08100/A164V RP4 P08100/C167R RP4 P08100/P171L RP4 P08100/P171Q RP4 P08100/P171S RP4 P08100/Y178C RP4 P08100/Y178N RP4 P08100/P180S RP4 P08100/E181K RP4 P08100/G182S RP4 P08100/S186P RP4 P08100/G188E RP4 P08100/G188R RP4 P08100/D190G RP4 P08100/D190N RP4 P08100/D190Y RP4 P08100/M207R RP4 P08100/H211P RP4 P08100/H211R RP4 P08100/I214N RP4 P08100/M216K RP4 P08100/F220C RP4 P08100/C222R RP4 P08100/P267L RP4 P08100/P267R RP4 P08100/A292E CSNBAD1 P08100/K296E RP4 P08100/S297R RP4 P08100/T342M RP4 P08100/V345L RP4 P08100/V345M RP4 P08100/P347A RP4 P08100/P347L RP4 P08100/P347Q RP4 P08100/P347R RP4 P08100/P347S RP4 P04001/N94K CBD P04001/W177R COD5 P04001/C203R CBD and BCM P04001/R330Q CBD P04000/S180A 38% of the population P04000/C203R BCM P04000/P307L BCM P04000/G338E CBP Q7LDL9/H26D GLC1E Q7LDL9/E50K GLC1E Q7LDL9/E103D GLC1E Q7LDL9/E478G ALS12 Q7LDL9/H486R GLC1E Q7LDL9/R545Q GLC1E Q13415/F89S MGORS1 Q13415/R105Q MGORS1 Q13415/E127G MGORS1 Q13415/R666W MGORS1 Q13415/R720Q MGORS1 O43929/Y174C MGORS2 Q9Y5N6/Y232S MGORS3 O43612/L16R NRCLP1 Q9Y619/G27E HHH syndrome Q9Y619/G27R HHH syndrome Q9Y619/M37R HHH syndrome Q9Y619/A70L HHH syndrome Q9Y619/L71Q HHH syndrome Q9Y619/G113C HHH syndrome Q9Y619/P126R HHH syndrome Q9Y619/E180K HHH syndrome Q9Y619/F188L HHH syndrome Q9Y619/G190D HHH syndrome Q9Y619/G216S HHH syndrome Q9Y619/T272I HHH syndrome Q9Y619/M273K HHH syndrome Q9Y619/R275Q HHH syndrome Q9Y619/L283F HHH syndrome Q99650/G618A PLCA1 Q99650/D647V PLCA1 Q99650/I691T PLCA1 Q99650/P694L PLCA1 Q99650/K697T PLCA1 P39656/G217D CDG1R P00480/R26Q OTCD P00480/G39C OTCD P00480/R40C OTCD P00480/R40H OTCD P00480/T44I OTCD P00480/L45P OTCD P00480/L45V OTCD P00480/N47I OTCD P00480/G50R OTCD P00480/Y55D OTCD P00480/M56T OTCD P00480/S60L OTCD P00480/L63P OTCD P00480/G79E OTCD P00480/G83D OTCD P00480/G83R OTCD P00480/E87K OTCD P00480/K88N OTCD P00480/S90R OTCD P00480/R92Q OTCD P00480/T93A OTCD P00480/R94T OTCD P00480/G100D OTCD P00480/A102E OTCD P00480/H117L OTCD P00480/H117R OTCD P00480/T125M OTCD P00480/D126G OTCD P00480/R129H OTCD P00480/L139S OTCD P00480/A140P OTCD P00480/R141P OTCD P00480/R141Q OTCD P00480/L148F OTCD P00480/I159T OTCD P00480/I160S OTCD P00480/N161S OTCD P00480/G162R OTCD P00480/H168Q OTCD P00480/H168R OTCD P00480/I172F OTCD P00480/I172M OTCD P00480/A174P OTCD P00480/D175V OTCD P00480/Y176C OTCD P00480/T178M OTCD P00480/Q180H OTCD P00480/E181G OTCD P00480/H182L OTCD P00480/Y183C OTCD P00480/Y183D OTCD P00480/G188R OTCD P00480/G188V OTCD P00480/L191F OTCD P00480/S192R OTCD P00480/G195R OTCD P00480/D196V OTCD P00480/D196Y OTCD P00480/G197E OTCD P00480/G197R OTCD P00480/N198K OTCD P00480/L201P OTCD P00480/H202Y OTCD P00480/S203C OTCD P00480/M206I OTCD P00480/M206R OTCD P00480/S207R OTCD P00480/A208T OTCD P00480/A209V OTCD P00480/M213K OTCD P00480/H214Y OTCD P00480/Q216E OTCD P00480/P220A OTCD P00480/P225L OTCD P00480/P225R OTCD P00480/P225T OTCD P00480/T242I OTCD P00480/L244Q OTCD P00480/T247K OTCD P00480/H255P OTCD P00480/T262K OTCD P00480/D263G OTCD P00480/D263N OTCD P00480/T264A OTCD P00480/T264I OTCD P00480/W265L OTCD P00480/S267R OTCD P00480/M268T OTCD P00480/G269E OTCD P00480/R277Q OTCD P00480/R277W OTCD P00480/L301F OTCD P00480/H302L OTCD P00480/H302Q OTCD P00480/H302Y OTCD P00480/C303R OTCD P00480/C303Y OTCD P00480/L304F OTCD P00480/P305H OTCD P00480/R320L OTCD P00480/E326K OTCD P00480/R330G OTCD P00480/A336S OTCD P00480/V337L OTCD P00480/V339L OTCD P00480/S340P OTCD P00480/L341P OTCD P00480/T343K OTCD P00480/Y345C OTCD P00480/Y345D OTCD P00480/F354C OTCD Q9HC10/Q255H AUNB1 Q9HC10/P490Q DFNB9 Q9HC10/I515T DFNB9 and AUNB1 Q9HC10/R794H DFNB9 Q9HC10/R822W DFNB9 Q9HC10/A964E AUNB1 Q9HC10/L1011P AUNB1 and DFNB9 Q9HC10/L1138P AUNB1 Q9HC10/F1795C AUNB1 Q9HC10/P1825A DFNB9 Q9HC10/R1939Q AUNB1 Q9HC10/P1987R AUNB1 Q6ZRI0/P2116L DFNB18B P32243/R89G MCOPS5 P32243/R90S MCOPS5 P32243/P133T MCOPS5 P32243/P134A MCOPS5 P32243/N225S CPHD6 Q9H244/R256Q BDPLT8 Q9H244/R265W BDPLT8 Q8IVL5/G508V MCVD Q9NZD0/P82L LFS Q9NZD0/G105C LFS Q9NZD0/K132E LFS Q9NZD0/M133R LFS Q9NZD0/M133T LFS Q9NZD0/A138P LFS Q9NZD0/A138S LFS Q9NZD0/C141Y LFS Q9NZD0/Q144L LFS Q9NZD0/P151S LFS Q9NZD0/P151T LFS Q9NZD0/P152L LFS Q9NZD0/T155N LFS Q9NZD0/R156H LFS Q9NZD0/R158G LFS Q9NZD0/R158H LFS Q9NZD0/Y163C LFS Q9NZD0/Q167K LFS Q9NZD0/V172F LFS Q9NZD0/V173M LFS Q9NZD0/R174G LFS Q9NZD0/R175G LFS Q9NZD0/R175H LFS Q9NZD0/R175L LFS Q9NZD0/H179Y LFS Q9NZD0/E180K LFS Q9NZD0/R181C LFS Q9NZD0/R181H LFS Q9NZD0/H193R LFS Q9NZD0/R196P LFS Q9NZD0/V197M LFS Q9NZD0/R213P LFS Q9NZD0/R213Q LFS Q9NZD0/Y220C LFS Q9NZD0/S227T LFS Q9NZD0/H233D LFS Q9NZD0/Y234C LFS Q9NZD0/N235S LFS Q9NZD0/Y236C LFS Q9NZD0/M237I LFS Q9NZD0/C238G LFS Q9NZD0/C238S LFS Q9NZD0/S241F LFS Q9NZD0/S241T LFS Q9NZD0/G244D LFS Q9NZD0/G244V LFS Q9NZD0/G245C LFS Q9NZD0/G245D LFS Q9NZD0/G245S LFS Q9NZD0/G245V LFS Q9NZD0/M246V LFS Q9NZD0/R248Q LFS Q9NZD0/R248W LFS Q9NZD0/I251M LFS Q9NZD0/L252P LFS Q9NZD0/L257Q LFS Q9NZD0/E258K LFS Q9NZD0/L265P LFS Q9NZD0/R267Q LFS Q9NZD0/V272L LFS Q9NZD0/R273C LFS Q9NZD0/R273G LFS Q9NZD0/R273H LFS Q9NZD0/R273L LFS Q9NZD0/C275Y LFS Q9NZD0/P278L LFS Q9NZD0/P278S LFS Q9NZD0/P278T LFS Q9NZD0/D281N LFS Q9NZD0/R282G LFS Q9NZD0/R282W LFS Q9NZD0/R283C LFS Q9NZD0/E285Q LFS Q9NZD0/E286A LFS Q9NZD0/R290H LFS Q9NZD0/R290L LFS Q9NZD0/K292I LFS Q9NZD0/R306P LFS Q9NZD0/P309S LFS Q9NZD0/G325V LFS Q9NZD0/R337C LFS Q9NZD0/R337H LFS Q9NZD0/L344P LFS P32322/R119G ARCL2B P32322/R119H ARCL2B P32322/A179T ARCL2B P32322/G206R ARCL2B P32322/G206W ARCL2B P32322/G248E ARCL3B P32322/R251H ARCL3B P32322/A257T ARCL3B P32322/R266Q ARCL2B Q5T566/R84Q ARCL3A Q5T566/H784Y ARCL3A Q9UBV9/T193TP SHFM4 Q9UBV9/K232E SHFM4 Q9UBV9/K233E SHFM4 Q9UBV9/R243Q EEC3 Q9UBV9/R243W EEC3 Q9UBV9/R266Q EEC3 Q9UBV9/C308Y EEC3 Q9UBV9/S311N EEC3 Q9UBV9/R318C EEC3 Q9UBV9/R318H EEC3 and EDRH Q9UBV9/R318Q EEC3 Q9UBV9/R319C EEC3 Q9UBV9/R319H EEC3 and SHFM4 Q9UBV9/R319S EEC3 Q9UBV9/R337Q ADULT syndrome Q9UBV9/R343Q EEC3 Q9UBV9/R343W EEC3 Q9UBV9/C345R EEC3 Q9UBV9/C347S EEC3 Q9UBV9/P348S EEC3 Q9UBV9/D351G EEC3 Q9UBV9/D351H EEC3 Q9UBV9/R352G EDRH and OFC8 Q9UBV9/I549T EDRH Q9UBV9/L553F AEC Q9UBV9/C561G AEC Q9UBV9/S580P EDRH O00459/G373R MPPH P39877/G45C FRFB P39877/G49S FRFB Q9ULP5/R203W MRD17 Q13093/V279F PAFAD Q13093/Q281R PAFAD O14832/P29S RD O14832/N83Y RD O14832/P173S RD O14832/H175R RD O14832/Q176K RD O14832/D177G RD O14832/A192AA RD O14832/W193R RD O14832/E197Q RD O14832/I199F RD O14832/G204S RD O14832/H220Y RD O14832/R245Q RD O14832/F257S RD O14832/N269H RD O14832/R275Q RD O14832/R275W RD Q7Z2E4/R67C MRX30 Q7Z2E4/A380E MRX30 Q8TCR5/E134G NBIA1 Q8TCR5/G219V NBIA1 Q8TCR5/T234A NBIA1 Q8TCR5/R249P NBIA1 Q8TCR5/R264W NBIA1 Q8TCR5/R278C NBIA1 Q8TCR5/R278L NBIA1 Q8TCR5/L282V NBIA1 Q8TCR5/R286C NBIA1 Q8TCR5/E322D NBIA1 Q8TCR5/E322G NBIA1 Q8TCR5/T327I NBIA1 Q8TCR5/S351P NBIA1 Q8TCR5/N355S NBIA1 Q8TCR5/R357Q NBIA1 Q8TCR5/A398T NBIA1 Q8TCR5/N404I NBIA1 Q8TCR5/L413P NBIA1 Q8TCR5/C428Y NBIA1 Q8TCR5/D447N NBIA1 Q8TCR5/S471N NBIA1 Q8TCR5/I497T NBIA1 Q8TCR5/N500I NBIA1 Q8TCR5/I501T NBIA1 Q8TCR5/A509V NBIA1 Q8TCR5/N511D NBIA1 Q8TCR5/G521R NBIA1 Q8TCR5/T528M NBIA1 Q8TCR5/R532W NBIA1 Q8TCR5/L563P NBIA1 Q8TCR5/P570L NBIA1 Q9NVV4/N478D SPAX4 O95340/T48R SEMD-PA Q99497/M26I PARK7 Q99497/E64D PARK7 Q99497/A104T PARK7 Q99497/D149A PARK7 Q99497/L166P PARK7 Q02962/G25V RCS Q02962/L33R RCS Q02962/S61I RCS Q02962/S61N RCS Q02962/L69P RCS Q02962/R71T RCS Q02962/T75TET RCS Q02962/T75TT RCS Q02962/G76S RCS Q02962/G84GSIKPGVIG RCS Q02962/G84S RCS Q02962/R117P RCS Q02962/P130H RCS Q02962/P130S RCS Q86UQ3/F45L WS1 Q86UQ3/N47H WS3 Q86UQ3/N47K CDHS Q86UQ3/G48R WS1 Q86UQ3/P50L WS1 Q86UQ3/R56L WS1 Q86UQ3/I59F WS1 Q86UQ3/I59N WS1 Q86UQ3/V60M WS1 Q86UQ3/M62V WS1 Q86UQ3/S73L WS1 Q86UQ3/V78M WS1 Q86UQ3/G81A WS1 Q86UQ3/S84F WS3 Q86UQ3/K85E WS1 Q86UQ3/Y90H WS3 Q86UQ3/G99D WS1 Q86UQ3/F238S WS1 Q86UQ3/V265F WS1 Q86UQ3/W266C WS1 Q86UQ3/R270C WS1 and WS3 Q86UQ3/R271C WS1 Q86UQ3/R271G WS1 Q86UQ3/R271H WS1 Q86UQ3/Q391H WS1 O43316/R172W MODY9 P26367/N17S AN P26367/G18W AN P26367/R19P AN P26367/R26G PAN P26367/I29S AN P26367/I29V AN P26367/A33P AN P26367/I42S AN P26367/S43P AN P26367/R44Q AN P26367/L46R AN P26367/C52R AN P26367/V53D PAN P26367/V53L AN P26367/I56T AN P26367/T63P AN P26367/G73D AN P26367/A79E AN P26367/I87K AN P26367/I87R AN P26367/S119R AN P26367/R125C FOVHYP P26367/V126D AN P26367/R128C FOVHYP P26367/Q178H AN P26367/R208Q AN P26367/R208W AN P26367/R242T AN P26367/F258S COI P26367/S292I BONH P26367/S353A AN P26367/S363P PAN P26367/P375Q AN P26367/M381V BONH P26367/T391A BONH P26367/G395R AN P26367/Q422R AN and ocular anterior segment anomalies Q06710/R31H CHNG2 Q06710/Q40P CHNG2 Q06710/C57Y CHNG2 Q06710/L62R CHNG2 P55771/G51S STHAG3 P05165/A75P PA-1 P05165/R77W PA-1 P05165/A138T PA-1 P05165/I164T PA-1 P05165/G197E PA-1 P05165/M229K PA-1 P05165/Q297R PA-1 P05165/D368G PA-1 P05165/M373K PA-1 P05165/G379V PA-1 P05165/C398R PA-1 P05165/R399Q PA-1 P05165/P423L PA-1 P05165/W559L PA-1 P05165/G631R PA-1 P05165/G668R PA-1 P05166/L17M PA-2 P05166/R44P PA-2 P05166/R67S PA-2 P05166/S106R PA-2 P05166/V107M PA-2 P05166/G112D PA-2 P05166/G131R PA-2 P05166/K140KICK PA-2 P05166/A153P PA-2 P05166/R165Q PA-2 P05166/R165W PA-2 P05166/E168K PA-2 P05166/G188R PA-2 P05166/G198D PA-2 P05166/V205D PA-2 P05166/P228L PA-2 P05166/G246V PA-2 P05166/R410W PA-2 P05166/T428I PA-2 P05166/I430L PA-2 P05166/Y435C PA-2 P05166/Y439C PA-2 P05166/M442T PA-2 P05166/A468T PA-2 P05166/A497V PA-2 P05166/R512C PA-2 P05166/L519P PA-2 P05166/N536D PA-2 Q8NDB9/R134G DFNB23 Q8NDB9/D178G USH1DF Q8NDB9/G262D DFNB23 Q8NDB9/Q1342K USH1F Q8TAB3/L25P EIEE9 Q8TAB3/V72G EIEE9 Q8TAB3/L81R EIEE9 Q8TAB3/D121N EIEE9 Q8TAB3/A141ASEA EIEE9 Q8TAB3/T146R EIEE9 Q8TAB3/A153T EIEE9 Q8TAB3/L190R EIEE9 Q8TAB3/V191L EIEE9 Q8TAB3/E199Q EIEE9 Q8TAB3/H203P EIEE9 Q8TAB3/F206C EIEE9 Q8TAB3/F206Y EIEE9 Q8TAB3/N232S EIEE9 Q8TAB3/N234S EIEE9 Q8TAB3/P236S EIEE9 Q8TAB3/E249D EIEE9 Q8TAB3/A262D EIEE9 Q8TAB3/S276P EIEE9 Q8TAB3/N340S EIEE9 Q8TAB3/D341E EIEE9 Q8TAB3/P344R EIEE9 Q8TAB3/D377E EIEE9 Q8TAB3/D377H EIEE9 Q8TAB3/T404I EIEE9 Q8TAB3/E414Q EIEE9 Q8TAB3/L433P EIEE9 Q8TAB3/V441E EIEE9 Q8TAB3/G513R EIEE9 Q8TAB3/L543P EIEE9 Q8TAB3/N557K EIEE9 Q8TAB3/P561R EIEE9 Q8TAB3/P567L EIEE9 Q8TAB3/D618N EIEE9 Q8TAB3/V642M EIEE9 Q96NT5/R113C HFM Q96NT5/R113S HFM Q96NT5/G147R HFM Q96NT5/D156Y HFM Q96NT5/S318R HFM Q96NT5/A335D HFM Q96NT5/G338R HFM Q96NT5/R376Q HFM Q96NT5/R376W HFM Q96NT5/P425R HFM Q8NBP7/S127R HCHOLA3 Q8NBP7/D129G HCHOLA3 Q8NBP7/R215H HCHOLA3 Q8NBP7/F216L HCHOLA3 Q8NBP7/R218S HCHOLA3 Q8NBP7/R357H HCHOLA3 Q8NBP7/D374H HCHOLA3 Q8NBP7/D374Y HCHOLA3 Q8NBP7/R496W HCHOLA3 Q8IVD2/S190A ACRDYS2 Q8IVD2/P225T ACRDYS2 Q8IVD2/F226S ACRDYS2 Q8IVD2/A227S ACRDYS2 Q8IVD2/Q228E ACRDYS2 Q8IVD2/S301T ACRDYS2 Q8IVD2/A304V ACRDYS2 Q8IVD2/V329A ACRDYS2 Q8IVD2/T587P ACRDYS2 Q8IVD2/E590A ACRDYS2 Q8IVD2/G673D ACRDYS2 Q8IVD2/I678T ACRDYS2 P16499/R102H RP43 P16499/R102S RP43 P16499/S344R RP43 P16499/Q569K RP43 P16499/S573P RP43 P35913/R74C RP40 P35913/R100H RP40 P35913/Y219H RP40 P35913/L228H RP40 P35913/H258N CSNBAD2 P35913/L527P RP40 P35913/I535N RP40 P35913/R552Q RP40 P35913/H557Y RP40 P35913/G576D RP40 P35913/L699R RP40 P35913/D776N RP40 P35913/L854R RP40 P51160/R29W COD4 P51160/Y323N COD4 P51160/M455V COD4 O95263/H305P PPNAD3 Q15120/R158H CMTX6 P52945/C18R MODY4 P52945/Q59L MODY4 P52945/D76N MODY4 P52945/R197H MODY4 P52945/P243PP MODY4 P01213/R138S SCA23 P01213/L211S SCA23 P01213/R212W SCA23 P01213/R215C SCA23 Q96RR1/R303Q PEOA3 Q96RR1/R303W PEOA3 Q96RR1/W315L PEOA3 Q96RR1/W315S PEOA3 Q96RR1/A318T MTDPS7 Q96RR1/K319E SANDO Q96RR1/K319T PEOA3 Q96RR1/R334P PEOA3 Q96RR1/R334Q PEO Q96RR1/P335L PEOA3 Q96RR1/R354P PEOA3 Q96RR1/R357P PEOA3 Q96RR1/A359T PEOA3 Q96RR1/L360G MTDPS7 Q96RR1/A362P PEOA3 Q96RR1/W363L PEOA3 Q96RR1/I367T PEOA3 Q96RR1/S369P PEOA3 Q96RR1/S369Y PEOA3 Q96RR1/F370C PEOA3 Q96RR1/F370L PEOA3 Q96RR1/R374Q PEOA3 Q96RR1/L381P PEOA3 Q96RR1/S426N PEOA3 Q96RR1/L456V MTDPS7 Q96RR1/T457I MTDPS7 Q96RR1/Q458H PEOA3 Q96RR1/A460P PEOA3 Q96RR1/W474C PEOA3 Q96RR1/W474S PEOA3 Q96RR1/A475D PEOA3 Q96RR1/A475P PEOA3 Q96RR1/F478I PEOA3 Q96RR1/E479K PEOA3 Q96RR1/Y508C MTDPS7 Q8TBN9/R184Q PD Q8TBN9/D276N PD Q8TBN9/G278D PD Q8TBN9/G448R PD O15055/S662G FASPS1 P11678/R286H EPD P14222/V50M FHL2 P14222/V183G FHL2 P14222/I224N FHL2 P14222/R225W FHL2 P14222/N252S FHL2 P14222/C279Y FHL2 P14222/P345L FHL2 P14222/G429E FHL2 P05164/Y173C MPOD P05164/M251T MPOD P05164/R569W MPOD Q6Y7W6/T112A PARK11 Q6Y7W6/I278V PARK11 Q6Y7W6/S335T PARK11 Q6Y7W6/N457T PARK11 Q6Y7W6/D606E PARK11 Q6Y7W6/V1242I PARK11 Q8TCI9/A53P TDH2A Q8TCI9/D240N TDH2A Q8TCI9/N307T TDH2A Q8TCI9/A326T TDH2A Q8TCI9/E378K TDH2A Q8TCI9/V433M TDH2A Q8TCI9/I447F TDH2A Q8TCI9/Y453D TDH2A Q8TCI9/L458P TDH2A Q8TCI9/R491H TDH2A Q8TCI9/G493S TDH2A Q8TCI9/P499L TDH2A Q8TCI9/W527C TDH2A Q8TCI9/G533C TDH2A Q8TCI9/G590S TDH2A Q8TCI9/R648Q TDH2A Q8TCI9/Q660E TDH2A Q8TCI9/R665W TDH2A Q8TCI9/R693W TDH2A Q8TCI9/G771R TDH2A Q8TCI9/D796Y TDH2A Q8TCI9/E799K TDH2A Q8TCI9/C808R TDH2A Q8TCI9/V839I TDH2A O60683/H290Q PBD6B O00623/R34S PBD-CG3 O00623/S320F PBD3B Q92968/I326T PBD11B Q9Y5Y5/P289T PBD8B Q9Y5Y5/Y331C PBD8B O43933/L590R PBD-CG1 O43933/G593R PBD-CG1 O43933/L664P PBD1A and PBD1B O43933/R798G PBD-CG1 O43933/G843D PBD1A and PBD1B O43933/A1237E PBD-CG1 Q7Z412/L45P PBD7B Q7Z412/G89R PBD7A Q7Z412/R98W PBD7B P28328/E55K PBD5B P56589/G138E PBD10A P50542/N526K PBD2B P50542/S600W PBD2B Q13608/P274L PBD-CG4 Q13608/R812Q PBD4A Q13608/R812W PBD4A Q13608/N849T PBD-CG4 Q13608/R860Q PBD-CG4 Q13608/R860W PBD-CG4 O00628/T14P PBD9B O00628/G217R RCDP1 O00628/A218V RCDP1 P15259/E89A GSD10 P15259/R90W GSD10 P15259/G97D GSD10 Q9UHJ9/R16W HPMRS3 Q9UHJ9/Y99C HPMRS3 Q9UHJ9/L127S HPMRS3 Q9UHJ9/T160I HPMRS3 Q9UHJ9/R177P HPMRS3 P98160/C1532Y SJS1 P16112/D2266N SEMD-ACAN P16112/V2303M OD Q12998/A140P COA Q12998/S193P ICNC P16234/N659K GIST sample P16234/Y849C GIST P09619/R561C IMF1 P09619/L658P IBGC4 P09619/P660T IMF1 P09619/R987W IBGC4 Q15198/H23Y CRC P00558/L88P PGK1D P00558/G158V PGK1D P00558/D164V PGK1D P00558/R206P PGK1D P00558/E252A PGK1D P00558/V266M PGK1D P00558/D268N Munchen P00558/D285V PGK1D P00558/D315N PGK1D P00558/C316R PGK1D Q96J40/T115A GSD14 Q96J40/G121R CDG1T P00439/S16P PKU P00439/Q20L HPA P00439/F39L HPA and PKU P00439/S40L PKU P00439/L41F PKU P00439/L41P PKU P00439/K42I PKU P00439/V45A PKU P00439/G46S PKU P00439/L48S PKU P00439/R53H PKU P00439/F55L HPA and PKU P00439/E56D PKU P00439/N61D PKU P00439/L62P PKU P00439/TH63PN PKU P00439/I65N PKU P00439/I65S PKU P00439/I65T PKU P00439/I65V HPA and PKU P00439/S67P PKU P00439/R68S PKU P00439/E76A PKU P00439/D84Y PKU P00439/T92I PKU P00439/A104D PKU P00439/S110C HPA P00439/F121L HPA P00439/T124I PKU P00439/D129Y PKU P00439/D143G PKU P00439/D145V PKU P00439/H146Y PKU P00439/G148S PKU P00439/D151H PKU P00439/Y154N PKU P00439/R155P PKU P00439/R157N PKU P00439/R157S PKU P00439/R158Q PKU P00439/R158W PKU P00439/Q160P PKU P00439/F161S PKU P00439/I164T PKU P00439/N167I PKU P00439/N167S HPA P00439/R169H PKU P00439/H170D HPA P00439/H170Q PKU P00439/H170R PKU P00439/G171A PKU P00439/G171R PKU P00439/P173T PKU P00439/I174T PKU P00439/I174V PKU P00439/P175A PKU P00439/R176P PKU P00439/V177L PKU P00439/V177M HPA P00439/E183Q PKU P00439/V190A PKU P00439/L194P PKU P00439/S196Y HPA P00439/H201R PKU P00439/Y204C PKU P00439/E205A PKU P00439/Y206D PKU P00439/N207D PKU P00439/N207S PKU P00439/P211T PKU P00439/L212P PKU P00439/L213P PKU P00439/C217G PKU P00439/G218V PKU P00439/E221G PKU P00439/D222V PKU P00439/I224M PKU P00439/P225R PKU P00439/P225T PKU P00439/Q226H PKU P00439/S231F PKU P00439/S231P PKU P00439/F233L PKU P00439/T238P PKU P00439/G239S PKU P00439/F240S PKU P00439/R241H PKU P00439/R241L PKU P00439/L242F PKU P00439/P244L PKU P00439/V245A PKU, HPA and non-PKU HPA P00439/V245E PKU P00439/V245L PKU P00439/A246D PKU P00439/G247V PKU P00439/L248P PKU P00439/L249F PKU P00439/R252G PKU P00439/R252Q PKU P00439/R252W PKU P00439/L255S PKU P00439/L255V PKU P00439/G257C PKU P00439/A259T PKU P00439/A259V PKU P00439/R261P PKU P00439/R261Q HPA and PKU P00439/F263L PKU P00439/H264L PKU P00439/C265G PKU P00439/R270K PKU P00439/R270S PKU P00439/H271Y PKU P00439/S273F PKU P00439/P275L PKU P00439/M276I PKU P00439/M276V PKU P00439/Y277C PKU P00439/Y277D PKU P00439/T278A PKU P00439/T278N PKU P00439/E280K PKU P00439/P281L PKU P00439/D282N PKU P00439/I283F PKU P00439/I283N PKU P00439/H290Y PKU P00439/R297C PKU P00439/R297H PKU P00439/F299C PKU P00439/A300S PKU and HPA P00439/A300V PKU P00439/S303P PKU P00439/Q304R PKU P00439/A309D PKU P00439/A309V PKU P00439/S310F PKU P00439/S310Y HPA P00439/L311P PKU P00439/P314H PKU P00439/P314S HPA P00439/I318T PKU P00439/A322G PKU P00439/A322T PKU P00439/A322V PKU P00439/Y325C PKU P00439/E330D PKU P00439/F331L PKU P00439/L333F PKU P00439/C334S PKU P00439/G337V PKU P00439/D338Y PKU P00439/K341R PKU P00439/K341T PKU P00439/A342T PKU P00439/Y343C PKU P00439/G344R PKU P00439/G344V PKU P00439/A345S PKU P00439/A345T PKU P00439/L347F PKU P00439/L348V PKU P00439/S349L PKU P00439/S349P PKU P00439/S350T PKU P00439/C357G PKU P00439/P362T PKU P00439/P366H PKU P00439/T372S PKU P00439/Y377C PKU P00439/Y386C PKU P00439/Y387H PKU P00439/V388L PKU P00439/V388M PKU P00439/E390G PKU and non-PKU HPA P00439/D394A PKU P00439/D394H PKU P00439/A395G PKU P00439/A395P PKU P00439/P407L PKU P00439/P407S PKU P00439/R408Q PKU P00439/R408W HPA and PKU P00439/F410S PKU P00439/R413S PKU P00439/Y414C HPA and PKU P00439/D415N PKU, HPA and non-PKU HPA P00439/Y417H PKU P00439/T418P PKU P00439/I421S PKU P00439/L430P PKU P00439/A447D PKU P78562/C77S XLHR P78562/F80S XLHR P78562/C85F XLHR P78562/C85R XLHR P78562/C85Y XLHR P78562/L138P XLHR P78562/S141P XLHR P78562/C142F XLHR P78562/L160R XLHR P78562/R166C XLHR P78562/D237G XLHR P78562/F252S XLHR P78562/M253I XLHR P78562/Y317F XLHR P78562/W444WN XLHR P78562/W530C XLHR P78562/P534L XLHR P78562/L555P XLHR P78562/R567P XLHR P78562/A573D XLHR P78562/G579R XLHR P78562/G579V XLHR P78562/Q621R XLHR P78562/R651P XLHR P78562/N680K XLHR P78562/C693Y XLHR P78562/A720T XLHR P78562/F731Y XLHR P78562/C733S XLHR P78562/C746W XLHR P78562/W749R XLHR Q8IWS0/C45Y BFLS Q8IWS0/C99F BFLS Q8IWS0/H229R BFLS Q8IWS0/K234E BFLS Q8IWS0/R257G BFLS Q7Z6D4/F315S MRXSSD P15735/V106E GSD9C P15735/E157K GSD9C P15735/G189E GSD9C P15735/D215N GSD9C P61457/C82R HPABH4D P61457/R88Q HPABH4D P61457/E97K HPABH4D O14813/A72V CFEOM2 Q99453/R141Q CCHS Q99453/Q143R CCHS Q99453/A241AAAAAAAAAAA CCHS Q8WYR1/P629S AOA3 O60331/D253N LCCS3 Q92508/G718S DHS Q92508/G782S DHS Q92508/R808Q DHS Q92508/S1117L DHS Q92508/R1358P DHS Q92508/A2003D DHS Q92508/A2020T DHS Q92508/A2020V DHS Q92508/T2127M DHS Q92508/M2225R DHS Q92508/R2456H DHS Q92508/R2488Q DHS Q92508/E2496ELE DHS P37287/R19W PNH1 P37287/D40H PNH1 P37287/G48A PNH1 P37287/G48D PNH1 P37287/G48V PNH1 P37287/H128R PNH1 P37287/S155F PNH1 P37287/G239R PNH1 P37287/N297D PNH1 Q9Y2B2/L167P CHIME O95427/R709Q MCAHS1 Q8TEQ8/L957F HPMRS2 Q9NUD9/Q256K HPMRS1 Q9NUD9/A341E HPMRS1 Q9NUD9/A341V HPMRS1 Q9NUD9/H385P HPMRS1 Q9BXM7/C92F PARK6 Q9BXM7/C125G PARK6 Q9BXM7/Q126P PARK6 Q9BXM7/R147H PARK6 Q9BXM7/A168P PARK6 Q9BXM7/P196L PARK6 Q9BXM7/A217D PARK6 Q9BXM7/E240K PARK6 Q9BXM7/L268V PARK6 Q9BXM7/H271Q PARK6 Q9BXM7/R279H PARK6 Q9BXM7/A280T PARK6 Q9BXM7/G309D PARK6 Q9BXM7/T313M PARK6 Q9BXM7/L347P PARK6 Q9BXM7/L369P PARK6 Q9BXM7/G386A PARK6 Q9BXM7/C388R PARK6 Q9BXM7/P399L PARK6 Q9BXM7/R407Q PARK6 Q9BXM7/G409V PARK6 Q9BXM7/E417G PARK6 Q9BXM7/R464H PARK6 Q9BXM7/L489P PARK6 Q9BXM7/Q534QQ PARK6 P28069/P24L CPHD1 P28069/F135C CPHD1 P28069/R143Q CPHD1 P28069/A158P CPHD1 P28069/R172Q CPHD1 P28069/E174G CPHD1 P28069/S179R CPHD1 P28069/W193R CPHD1 P28069/E230K CPHD1 P28069/P239S CPHD1 P28069/R271W CPHD1 Q9BZ71/Q626H CORD5 P78337/E130K CCF Q99697/L100Q RIEG1 Q99697/R108H RDC Q99697/P110L RIEG1 Q99697/P110R RIEG1 Q99697/T114P RIEG1 Q99697/R115H IRID2 Q99697/V129L RIEG1 Q99697/R130W IRID2 Q99697/K134E RIEG1 Q99697/R136C RIEG1 Q99697/R137P RIEG1 Q99697/L151V RIEG1 Q99697/N154T RIEG1 O75364/S13N CTRCT11 Q0ZLH3/T54I DFNB59 Q0ZLH3/R183W DFNB59 Q0ZLH3/C343S DFNB59 P42336/E81K MCAP P42336/R88Q MCAP and cancer P42336/G118D CWD5 P42336/E135K CWD5 P42336/E218K CWD5 P42336/V356I CWD5 P42336/G364R MCAP P42336/E365K MCAP P42336/C378Y MCAP P42336/R382K CWD5 P42336/C420R CLOVE and cancer P42336/E542K CLOVE and KERSEB P42336/E545G KERSEB P42336/E545K MCAP and KERSEB P42336/E726K MCAP P42336/G914R MCAP P42336/Y1021C MCAP and cancer P42336/T1025A MCAP P42336/A1035V MCAP and cancer P42336/M1043I MCAP and cancer P42336/H1047R CLOVE and KERSEB P42336/H1047Y MCAP and cancer P42336/G1049S MCAP P98161/L13Q PKD1 P98161/P61L PKD1 P98161/S75F PKD1 P98161/D97G PKD1 P98161/S99I PKD1 P98161/W139C PKD1 P98161/Q164R PKD1 P98161/C210G PKD1 P98161/R324L PKD1 P98161/Y325C PKD1 P98161/G381C PKD1 P98161/C436R PKD1 P98161/A442P PKD1 P98161/C508R PKD1 P98161/F594Y PKD1 P98161/R611W PKD1 P98161/V690D PKD1 P98161/Y698D PKD1 P98161/L727P PKD1 P98161/L727R PKD1 P98161/L845S PKD1 P98161/W967R PKD1 P98161/Q987H PKD1 P98161/M1092T PKD1 P98161/G1166S PKD1 P98161/V1206G PKD1 P98161/T1242M PKD1 P98161/R1340W PKD1 P98161/T1667P PKD1 P98161/E1811K PKD1 P98161/V1956E PKD1 P98161/FT1992L PKD1 P98161/T2083I PKD1 P98161/Y2092C PKD1 P98161/Y2185D PKD1 P98161/R2200C PKD1 P98161/T2250M PKD1 P98161/R2329W PKD1 P98161/Y2336D PKD1 P98161/C2370R PKD1 P98161/C2373Y PKD1 P98161/Y2379C PKD1 P98161/G2391D PKD1 P98161/R2392P PKD1 P98161/R2408C PKD1 P98161/T2422K PKD1 P98161/S2423F PKD1 P98161/R2434W PKD1 P98161/G2443GG PKD1 P98161/P2471L PKD1 P98161/Q2519L PKD1 P98161/H2546Y PKD1 P98161/S2569C PKD1 P98161/H2638R PKD1 P98161/I2646T PKD1 P98161/T2649I PKD1 P98161/L2696R PKD1 P98161/A2752D PKD1 P98161/L2763V PKD1 P98161/R2765RILMR PKD1 P98161/R2767C PKD1 P98161/V2768M PKD1 P98161/E2771K PKD1 P98161/G2785D PKD1 P98161/P2802L PKD1 P98161/G2814R PKD1 P98161/L2816P PKD1 P98161/I2826T PKD1 P98161/G2858S PKD1 P98161/S2889R PKD1 P98161/H2921P PKD1 P98161/R2985G PKD1 P98161/L2993P PKD1 P98161/L2995R PKD1 P98161/V3008L PKD1 P98161/Q3016R PKD1 P98161/R3039C PKD1 P98161/F3066L PKD1 P98161/V3138M PKD1 P98161/L3154P PKD1 P98161/I3167F PKD1 P98161/R3247H PKD1 P98161/V3285I PKD1 P98161/P3355L PKD1 P98161/V3375M PKD1 P98161/T3382M PKD1 P98161/T3510M PKD1 P98161/L3511V PKD1 P98161/G3560R PKD1 P98161/G3602S PKD1 P98161/W3603R PKD1 P98161/E3632D PKD1 P98161/P3649L PKD1 P98161/G3651S PKD1 P98161/M3678T PKD1 P98161/L3682P PKD1 P98161/R3719Q PKD1 P98161/W3726S PKD1 P98161/R3750Q PKD1 P98161/Q3751R PKD1 P98161/R3753W PKD1 P98161/D3815N PKD1 P98161/L3852P PKD1 P98161/A3954P PKD1 P98161/F3996FLLF PKD1 P98161/G4032D PKD1 P98161/R4136G PKD1 P98161/R4150C PKD1 P98161/R4154C PKD1 P98161/F4155V PKD1 P98161/Q4225P PKD1 P98161/P4255S PKD1 P98161/R4276W PKD1 Q13563/R306Q PKD2 Q13563/R322Q PKD2 Q13563/R322W PKD2 Q13563/A356P PKD2 Q13563/A384P PKD2 Q13563/W414G PKD2 Q13563/R420G PKD2 Q13563/D511V PKD2 Q13563/C632R PKD2 Q13563/R807Q PKD2 P08F94/A17V ARPKD P08F94/T36M ARPKD P08F94/R92W ARPKD P08F94/I222V ARPKD P08F94/G223S ARPKD P08F94/I246T ARPKD P08F94/F253L ARPKD P08F94/Y255C ARPKD P08F94/A293V ARPKD P08F94/I307T ARPKD P08F94/G326V ARPKD P08F94/F372L ARPKD P08F94/G466E ARPKD P08F94/G470V ARPKD P08F94/I473S ARPKD P08F94/Y486H ARPKD P08F94/R496P ARPKD P08F94/I539T ARPKD P08F94/W656C ARPKD P08F94/H686P ARPKD P08F94/D703N ARPKD P08F94/P724R ARPKD P08F94/P739L ARPKD P08F94/I757L ARPKD P08F94/R760H ARPKD P08F94/P805L ARPKD P08F94/T899P ARPKD P08F94/M997K ARPKD P08F94/A1030E ARPKD P08F94/G1122S ARPKD P08F94/G1123S ARPKD P08F94/C1249W ARPKD P08F94/P1389T ARPKD P08F94/L1407R ARPKD P08F94/C1472Y ARPKD P08F94/P1486L ARPKD P08F94/S1584I ARPKD P08F94/R1624W ARPKD P08F94/S1664F ARPKD P08F94/V1741M ARPKD P08F94/T1781I ARPKD P08F94/V1789L ARPKD P08F94/V1817G ARPKD P08F94/S1833L ARPKD P08F94/Y1838C ARPKD P08F94/S1867N ARPKD P08F94/V1875G ARPKD P08F94/Q1917R ARPKD P08F94/W1928L ARPKD P08F94/D1942G ARPKD P08F94/G1971D ARPKD P08F94/E1995G ARPKD P08F94/I1998T ARPKD P08F94/A2009T ARPKD P08F94/V2032L ARPKD P08F94/L2106R ARPKD P08F94/L2134P ARPKD P08F94/G2210E ARPKD P08F94/S2219L ARPKD P08F94/G2224R ARPKD P08F94/I2303F ARPKD P08F94/I2331K ARPKD P08F94/C2422G ARPKD P08F94/C2422R ARPKD P08F94/E2431V ARPKD P08F94/R2573C ARPKD P08F94/T2641A ARPKD P08F94/C2688F ARPKD P08F94/D2761Y ARPKD P08F94/L2772P ARPKD P08F94/V2798G ARPKD P08F94/C2803R ARPKD P08F94/M2804K ARPKD P08F94/S2861G ARPKD P08F94/Y2863C ARPKD P08F94/I2957T ARPKD P08F94/D2962G ARPKD P08F94/S2983L ARPKD P08F94/S3018F ARPKD P08F94/V3036G ARPKD P08F94/H3049R ARPKD P08F94/I3081V ARPKD P08F94/H3124Y ARPKD P08F94/I3167L ARPKD P08F94/N3175D ARPKD P08F94/N3175S ARPKD P08F94/I3177T ARPKD P08F94/A3207T ARPKD P08F94/D3293V ARPKD P08F94/C3346R ARPKD P08F94/I3468V ARPKD P08F94/V3471G ARPKD P08F94/R3482C ARPKD P08F94/E3502V ARPKD P08F94/E3529Q ARPKD P08F94/I3553T ARPKD P08F94/C3622Y ARPKD P08F94/P3783S ARPKD P08F94/R3957C ARPKD Q5T8W9/F703S DSMA4 Q99959/E137K ARVD9 Q99959/S140F ARVD9 Q99959/S169G ARVD9 Q99959/F424S ARVD9 Q99959/S615F ARVD9 Q99959/Y631C ARVD9 Q99959/K654Q ARVD9 Q99959/L787F ARVD9 Q99959/C796R ARVD9 Q8NFJ6/R85C HH3 Q8NFJ6/R85H HH3 Q8NFJ6/V115M HH3 Q8NFJ6/R164Q HH3 Q8NFJ6/L173R HH3 Q8NFJ6/W178S HH3 Q8NFJ6/S202G HH3 Q8NFJ6/Q210R HH3 Q8NFJ6/R268C HH3 Q8NFJ6/P290S HH3 Q8NFJ6/M323I HH3 Q8NFJ6/V331M HH3 P14923/T19I ARVD12 P14923/S39SS ARVD12 Q9BQW6/N329T ARCND2 Q9BQW6/R621C ARCND2 Q9BQW6/R621H ARCND2 Q9BQW6/Y623C ARCND2 Q9BQW6/N650H ARCND2 O15120/G136R CGL1 O15120/L228P CGL1 O15120/A239V CGL1 P51178/T209R NDNC3 P51178/I574T NDNC3 Q5VWL5/S1484L NPHS3 P16885/S707Y APLAID Q6S381/L429LL MD-EBS Q6S381/R2110W O-EBS P00747/K38E PLGD P00747/L147P PLGD P00747/R235H PLGD P00747/V374F PLGD P00747/R532H PLGD P00747/S591P PLGD P00747/A620T PLGD P00747/G751R PLGD Q02809/W446G EDS6 Q02809/W612C EDS6 Q02809/A667T EDS6 Q02809/G678R EDS6 Q02809/H706R EDS6 O00469/R598H BRKS2 O00469/G601C AR-OI O00469/G601V BRKS2 O00469/T608I BRKS2 O60568/N223S LH3 deficiency Q8N8W4/A59V ARCI10 Q96AD5/P195L NLSDM Q9UG58/R929H SPG39 Q9UG58/M1051V SPG39 O60733/V310E NBIA2A O60733/K545T NBIA2B O60733/R632W NBIA2B O60733/R741Q PARK14 O60733/R747W PARK14 P07738/R62Q BPGMD P07738/R90C BPGMD Q8WZA1/T176P MDDGA3 Q8WZA1/S198R MDDGA3 Q8WZA1/E223K MDDGA3 Q8WZA1/R265H MDDGA3 Q8WZA1/C269Y MDDGA3 Q8WZA1/R311Q MDDGA3 and MDDGB3 Q8WZA1/R367H MDDGA3 Q8WZA1/W425S MDDGA3 Q8WZA1/D427H MDDGA3 Q8WZA1/R442C MDDGA3 Q8WZA1/C490Y MDDGA3 and MDDGB3 Q8WZA1/P493R MDDGA3 Q8WZA1/S550N MDDGA3 Q8WZA1/D556N MDDGC3 Q8WZA1/R605P MDDGB3 Q8NAT1/R158H MDDGA8 O15305/C9Y CDG1A O15305/F11C CDG1A O15305/G15E CDG1A O15305/P20S CDG1A O15305/L32R CDG1A O15305/Q37H CDG1A O15305/V44A CDG1A O15305/V44L CDG1A O15305/Y64C CDG1A O15305/D65Y CDG1A O15305/V67M CDG1A O15305/P69S CDG1A O15305/Y76C CDG1A O15305/E93A CDG1A O15305/N101K CDG1A O15305/C103F CDG1A O15305/L104V CDG1A O15305/Y106C CDG1A O15305/A108V CDG1A O15305/P113L CDG1A O15305/G117R CDG1A O15305/F119L CDG1A O15305/I120T CDG1A O15305/R123Q CDG1A O15305/V129M CDG1A O15305/P131A CDG1A O15305/I132F CDG1A O15305/I132N CDG1A O15305/I132T CDG1A O15305/E139K CDG1A O15305/R141C CDG1A O15305/R141H CDG1A O15305/F144L CDG1A O15305/D148N CDG1A O15305/E151G CDG1A O15305/I153T CDG1A O15305/F157S CDG1A O15305/R162W CDG1A O15305/F172V CDG1A O15305/G175R CDG1A O15305/G176V CDG1A O15305/Q177H CDG1A O15305/F183S CDG1A O15305/D185G CDG1A O15305/D188G CDG1A O15305/C192G CDG1A O15305/H195R CDG1A O15305/E197A CDG1A O15305/F206S CDG1A O15305/G208A CDG1A O15305/G214S CDG1A O15305/N216I CDG1A O15305/N216S CDG1A O15305/D217E CDG1A O15305/H218L CDG1A O15305/D223E CDG1A O15305/D223N CDG1A O15305/T226S CDG1A O15305/G228C CDG1A O15305/G228R CDG1A O15305/Y229S CDG1A O15305/V231M CDG1A O15305/A233T CDG1A O15305/T237M CDG1A O15305/T237R CDG1A O15305/R238G CDG1A O15305/R238P CDG1A O15305/C241S CDG1A Q01453/H12Q DSS Q01453/L16P CMT1A and DSS Q01453/L19P DSS Q01453/S22F HNPP and CMT1A Q01453/T23R CMT1E Q01453/W28R CMT1E Q01453/V30M HNPP Q01453/D37V CMT1A Q01453/V65F CMT1A Q01453/A67P CMT1E Q01453/A67T HNPP Q01453/M69K DSS Q01453/L71P DSS Q01453/S72L DSS and CMT1A Q01453/S72P DSS Q01453/S72W DSS Q01453/S76I DSS Q01453/S79C CMT1A Q01453/S79P DSS Q01453/L80P DSS Q01453/L80R DSS Q01453/G93R CMT1A Q01453/G100E DSS Q01453/G100R DSS Q01453/L105R CMT1A and DSS Q01453/G107V CMT1A Q01453/C109R DSS Q01453/T118M CMT1A Q01453/L147R CMT1A Q01453/S149R DSS Q01453/G150C DSS Q01453/G150D DSS Q01453/R157W DSS P54278/S46I MMRCS P54278/E705K MMRCS Q8N490/A7V DYT8 Q8N490/A9V DYT8 Q96T60/L176F EIEE10 Q96T60/E326K EIEE10 P00491/E89K PNPD P00491/D128G PNPD P00491/A174P PNPD P00491/Y192C PNPD P00491/R234P PNPD Q9NVS9/R229W PNPO deficiency Q8TCS8/Q387R COXPD13 Q8TCS8/E475G DFNB70 P49335/A312V DFNX2 P49335/L317W DFNX2 P49335/R323G DFNX2 P49335/R330S DFNX2 P49335/K334E DFNX2 Q15319/L223P DFNA15 Q15319/L289F DFNA15 P78424/Q192H WT5 Q8NBT0/L171P SO Q9NP85/P20L NPHS2 Q9NP85/G92C NPHS2 Q9NP85/R138Q NPHS2 Q9NP85/D160G NPHS2 Q9NP85/V180M NPHS2 Q9NP85/R291W NPHS2 Q8WVV4/R329Q POF2B Q9Y253/R111H XPV Q9Y253/T122P XPV Q9Y253/G263V XPV Q9Y253/R361S XPV Q9Y253/K535E XPV Q9Y253/K589T XPV Q9NX32/G65R MDDGB1 Q9NX32/G76R MDDGA1 Q9NX32/R105C MDDGA1 Q9NX32/R105H MDDGA1 Q9NX32/A200P MDDGC1 Q9NX32/G207V MDDGA1 Q9NX32/V428D MDDGA1 Q9NX32/S537R MDDGA1 and MDDGB1 Q9NX32/W582C MDDGB1 Q9NX32/Q590H MDDGB1 Q9NX32/A669T MDDGB1 Q9UKY4/T184M MDDGC2 Q9UKY4/I198N MDDGA2 Q9UKY4/G246D MDDGB2 Q9UKY4/G353S MDDGA2 Q9UKY4/V373F MDDGA2 Q9UKY4/R413P MDDGA2 Q9UKY4/IN444LLWQ MDDGA2 Q9UKY4/H478R MDDGA2 Q9UKY4/G482V MDDGA2 Q9UKY4/Y666C MDDGB2 and MDDGA2 Q9UKY4/F717S MDDGB2 Q9UKY4/G726E MDDGA2 and MDDGB2 Q9UKY4/W748R MDDGB2 Q9UKY4/W748S MDDGC2 Q9H237/G60R FODH Q9H237/S136F FODH Q9H237/G168R FODH Q9H237/H252Y FODH Q9H237/V258E FODH Q9H237/S297L FODH Q9H237/L331R FODH Q9H237/H341L FODH Q9H237/E361V FODH Q9H237/R365G FODH Q9H237/R365Q FODH Q9H237/A374P FODH Q9H237/C385R FODH Q9H237/C385Y FODH Q9H237/W439R FODH P13686/K52M SPENCDI P13686/T89I SPENCDI P13686/G109R SPENCDI P13686/L201P SPENCDI P13686/G215R SPENCDI P13686/D241N SPENCDI P13686/N262H SPENCDI P13686/M264K SPENCDI Q15179/F388L FPLD3 Q15179/R425C FPLD3 Q5BKZ5/S17F HOPS Q5BKZ5/Y28C HOPS Q5BKZ5/A33V HOPS Q5BKZ5/A40V HOPS Q5BKZ5/A51S HOPS Q5BKZ5/A51V HOPS Q5BKZ5/M62L HOPS Q5BKZ5/M62V HOPS Q5BKZ5/G63R HOPS Q5BKZ5/G63V HOPS Q5BKZ5/T68M HOPS Q5BKZ5/R71C HOPS Q5BKZ5/R71H HOPS Q5BKZ5/R71P HOPS Q5BKZ5/R71S HOPS Q5BKZ5/G75S HOPS Q5BKZ5/Q76R HOPS Q5BKZ5/P108L HOPS Q5BKZ5/A111T HOPS Q5BKZ5/A114G HOPS Q5BKZ5/A116T HOPS Q5BKZ5/G120R HOPS Q5BKZ5/V128M HOPS Q5BKZ5/G129R HOPS Q5BKZ5/A132V HOPS Q5BKZ5/T134H HOPS Q5BKZ5/T134N HOPS Q5BKZ5/R136H HOPS Q5BKZ5/T148I HOPS Q5BKZ5/R152H HOPS Q5BKZ5/G162S HOPS Q5BKZ5/G162V HOPS Q5BKZ5/N170D HOPS Q5BKZ5/H171R HOPS Q5BKZ5/H171Y HOPS Q5BKZ5/A176T HOPS Q5BKZ5/A177T HOPS Q5BKZ5/A179T HOPS Q5BKZ5/S181L HOPS Q5BKZ5/R184W HOPS Q5BKZ5/D189E HOPS Q5BKZ5/E191G HOPS Q5BKZ5/E191K HOPS Q5BKZ5/C201Y HOPS Q5BKZ5/Q207P HOPS Q5BKZ5/N211D HOPS Q5BKZ5/I212F HOPS Q5BKZ5/G220A HOPS Q5BKZ5/G220V HOPS Q5BKZ5/R223Q HOPS Q5BKZ5/R223W HOPS Q5BKZ5/K224E HOPS Q5BKZ5/E235G HOPS Q5BKZ5/R246S HOPS Q5BKZ5/G249V HOPS Q5BKZ5/R272H HOPS Q5BKZ5/R272L HOPS Q5BKZ5/L275P HOPS Q5BKZ5/L289F HOPS Q5BKZ5/E291K HOPS Q5BKZ5/P292T HOPS Q5BKZ5/D294A HOPS Q5BKZ5/D294Y HOPS Q5BKZ5/M295T HOPS Q5BKZ5/Y297D HOPS Q5BKZ5/E298K HOPS Q5BKZ5/L299P HOPS Q5BKZ5/D306V HOPS Q5BKZ5/E311K HOPS Q5BKZ5/G326R HOPS Q5BKZ5/F327G HOPS Q5BKZ5/F327L HOPS Q5BKZ5/G334D HOPS Q5BKZ5/G339R HOPS Q5BKZ5/A348T HOPS Q5BKZ5/E354D HOPS Q5BKZ5/D378V HOPS Q5BKZ5/H381R HOPS Q5BKZ5/V382I HOPS Q5BKZ5/R391C HOPS Q5BKZ5/R391H HOPS Q5BKZ5/A399S HOPS Q5BKZ5/D406G HOPS Q5BKZ5/T411A HOPS Q5BKZ5/L414M HOPS Q5BKZ5/N417S HOPS Q5BKZ5/V423A HOPS Q5BKZ5/G426C HOPS Q5BKZ5/G426D HOPS Q5BKZ5/Y436H HOPS Q5BKZ5/S445P HOPS Q5BKZ5/R450C HOPS Q5BKZ5/R450H HOPS Q5BKZ5/E452K HOPS Q5BKZ5/G456R HOPS Q5BKZ5/V459M HOPS Q5BKZ5/A468T HOPS Q5BKZ5/G473S HOPS Q5BKZ5/E476K HOPS Q5BKZ5/N478I HOPS Q5BKZ5/C489S HOPS Q5BKZ5/I490F HOPS Q5BKZ5/G491R HOPS P10619/Q49R GSL P10619/S51Y GSL P10619/W65R GSL P10619/S90L GSL P10619/V132M GSL P10619/L236P GSL P10619/Y249N GSL P10619/Y395C GSL P10619/M406T GSL P10619/G439S GSL P10619/F440V GSL P10619/K453E GSL P23284/M9R OI9 O43586/A230T PAPAS O43586/E250Q PAPAS P26678/R9C CMD1P P50336/R59W VP P50336/R152C VP P50336/G232R VP Q16821/A931E NIDDM P50897/W38C CLN1 P50897/H39Q CLN1 P50897/G42E CLN1 P50897/C45Y CLN1 P50897/T75P CLN1 P50897/D79G CLN1 P50897/G108R CLN1 P50897/Y109D CLN1 P50897/R122W CLN1 P50897/S138L CLN1 P50897/C152Y CLN1 P50897/Q177E CLN1 P50897/V181L CLN1 P50897/V181M CLN1 P50897/H187R CLN1 P50897/P189R CLN1 P50897/L219Q CLN1 P50897/L222P CLN1 P50897/V228G CLN1 P50897/Y247H CLN1 P50897/G250V CLN1 P50897/W296R CLN1 P50897/L305P CLN1 Q96NZ9/E54G PRAPV3 Q96NZ9/K69R PRAPV4 Q9BXM0/D651N CMT4F Q04118/P53C Gl-8 Q00LT1/C2Y RP36 Q00LT1/V30M RP36 Q9NQX1/Y107C BCS2 Q96MT3/R104Q EPM1B Q96MT3/R144H EPM1B Q96MT3/Y472H EPM1B Q7Z3G6/R148H EPM5 Q7Z3G6/V153I EPM5 Q7Z3G6/V605F EPM5 Q96E70/P102L GSD and early-onset dementia Q96E70/P105L GSD Q96E70/G131V GSD Q96E70/D178N FFI and CJD Q96E70/V180I CJD Q96E70/H187R GSD Q96E70/E196K CJD Q96E70/F198S GSD Q96E70/E200K CJD Q96E70/D202N GSD Q96E70/V203I CJD Q96E70/R208H CJD Q96E70/V210I CJD Q96E70/E211Q CJD Q96E70/Q212P GSD Q96E70/Q217R GSD Q96E70/M232R CJD Q8WW07/V15M PARK2 Q8WW07/R33Q PARK2 Q8WW07/P37L PARK2 Q8WW07/R42P PARK2 Q8WW07/A46P PARK2 Q8WW07/V56E PARK2 Q8WW07/A82E PARK2 Q8WW07/A92V PARK2 Q8WW07/K161N PARK2 Q8WW07/M192L PARK2 Q8WW07/M192V PARK2 Q8WW07/K211N PARK2 Q8WW07/K211R PARK2 Q8WW07/C212Y PARK2 Q8WW07/T240M PARK2 Q8WW07/T240R PARK2 Q8WW07/C253Y PARK Q8WW07/R256C PARK2 and PARK Q8WW07/R275W PARK2 and PARK Q8WW07/D280N PARK Q8WW07/G284R PARK2 Q8WW07/C289G PARK2 Q8WW07/G328E PARK2 Q8WW07/R334C PARK2 Q8WW07/T351P PARK2 Q8WW07/R402C PARK2 Q8WW07/T415N PARK2 Q8WW07/C418R PARK2 Q8WW07/G430D PARK2 Q8WW07/C431F PARK2 Q8WW07/P437L PARK2 Q8WW07/C441R PARK2 O75569/P222L DYT16 P04070/R32C THPH3 P04070/R42H Malakoff P04070/R42S THPH3 P04070/R57G Yonago P04070/R57W THPH3 P04070/E62A THPH3 P04070/V76M THPH3 P04070/G114R THPH3 P04070/NG144K THPH4 P04070/G145R THPH3 P04070/A178P THPH4 P04070/P210L THPH3 P04070/R211W THPH3 P04070/R220Q THPH3 P04070/R220W THPH3 P04070/I243T THPH3 P04070/R271Q Marseille P04070/R272C THPH3 P04070/P289L THPH4 P04070/S294N Paris P04070/P321L THPH3 P04070/G324R THPH3 P04070/R328C THPH3 P04070/R328H THPH4 P04070/G334S THPH4 P04070/T340M THPH3 P04070/V367A THPH4 P04070/P369L THPH3 P04070/G392R THPH3 P04070/D401N THPH3 P04070/G418D THPH4 P04070/G423S THPH3 P04070/C426Y THPH3 P04070/T436N THPH3 P04070/Y441H THPH3 P04070/W444C THPH3 Q9UF13/L441P HP-1 P07737/C71G ALS18 P07737/M114T ALS18 P07737/E117G ALS18 P07737/G118V ALS18 Q9HC23/A24P HH4 Q9HC23/G32R HH4 Q9HC23/R73C HH4 O43490/R373C CORD12, STGD4 and MCDR2 O75360/R73C CPHD2 O75360/R73H CPHD2 O75360/F88S CPHD2 O75360/R99Q CPHD2 O75360/F117I CPHD2 O75360/R120C CPHD2 O75360/R125W CPHD2 P27918/R100W PFD P27918/G298V PFD P27918/Q343R PFD P27918/Y414D PFD P07225/L15H THPH5 P07225/V18E THPH5 P07225/R40L THPH5 P07225/R41H THPH5 P07225/K50E THPH5 P07225/G52D THPH5 P07225/E67A THPH5 P07225/A68D THPH5 P07225/F72C THPH5 P07225/T78M THPH5 P07225/V87L THPH5 P07225/C88Y THPH5 P07225/R90C THPH5 P07225/R90H THPH5 P07225/G95E THPH5 P07225/G95R THPH5 P07225/R101C THPH5 P07225/R111S THPH5 P07225/C121Y THPH5 P07225/D129G THPH5 P07225/T144N THPH5 P07225/W149C THPH5 P07225/D157G THPH5 P07225/C161G THPH5 P07225/N166Y THPH5 P07225/C175F THPH5 P07225/C186Y THPH5 P07225/K196E THPH5 P07225/E204G THPH5 P07225/R233K THPH5 P07225/Y234C THPH6 P07225/C241S THPH5 P07225/D243N THPH5 P07225/D245G THPH5 P07225/C247G THPH5 P07225/E249K THPH5 P07225/N258S THPH5 P07225/C265R THPH5 P07225/C265W THPH5 P07225/Y266C THPH5 P07225/C267S THPH5 P07225/L300P THPH5 P07225/S324P THPH5 P07225/G336D THPH5 P07225/G336S THPH5 P07225/G336V THPH5 P07225/L339P THPH5 P07225/L351P THPH5 P07225/R355H THPH5 P07225/G357R THPH5 P07225/K364E THPH5 P07225/D376N THPH5 P07225/G381D THPH5 P07225/G381V THPH5 P07225/W383R THPH5 P07225/E390K THPH5 P07225/L446P THPH5 P07225/C449S THPH5 P07225/C475R THPH5 P07225/G482C THPH5 P07225/Y485C THPH5 P07225/S501A THPH5 P07225/V508G THPH5 P07225/V508M THPH5 P07225/R515C THPH5 P07225/R515P THPH5 P07225/G521D THPH5 P07225/A525P THPH5 P07225/L526S THPH5 P07225/T532A THPH5 P07225/L552S THPH5 P07225/R561G THPH5 P07225/I562L THPH5 P07225/C568Y THPH5 P07225/L575R THPH5 P07225/L584Q THPH5 P07225/M611K THPH5 P07225/M611T THPH5 P07225/A616P THPH5 P07225/L622R THPH5 P07225/T630I THPH5 P07225/Y636C THPH5 P07225/G638D THPH5 P07225/C639F THPH5 P07225/C639Y THPH5 P07225/M640T THPH5 P07225/I644S THPH5 P07225/H664P THPH5 P07225/S665L THPH5 P07225/C666R THPH5 P07225/P667L THPH5 Q8WWY3/A194E RP11 Q8WWY3/A216P RP11 Q9NTE6/R729W RP60 Q6P2Q9/P2301T RP13 Q6P2Q9/F2304L RP13 Q6P2Q9/H2309P RP13 Q6P2Q9/H2309R RP13 Q6P2Q9/R2310G RP13 Q6P2Q9/R2310K RP13 Q6P2Q9/F2314L RP13 Q6P2Q9/Y2334N RP13 O43395/P493S RP18 O43395/T494M RP18 P23942/R13W RP7 P23942/L45F RP7 P23942/G68R PDREP P23942/L126R RP7 P23942/R142W RP7 P23942/K153R RP7 P23942/D157N PDREP P23942/C165Y RP7 P23942/G167D PDREP P23942/G167S PDREP P23942/R172G PDREP P23942/D173V RP7 P23942/L185P RP7 P23942/R195L CACD2 P23942/G208D RP7 P23942/P210R PDREP and RP7 P23942/P210S RP7 P23942/F211L RP7 P23942/S212G RP7 P23942/S212T AVMD P23942/C213R PDREP P23942/C214S RP7 P23942/P216L RP7 P23942/P216S RP7 P23942/R220Q PDREP P23942/R220W PDREP P23942/N244K RP7 P23942/G266D RP7 P23942/V268I AVMD P23942/G305D AVMD P60891/E43D CMTX5 P60891/D52H PRPS1 superactivity P60891/D65N DFNX1 P60891/A87T DFNX1 P60891/N114S PRPS1 superactivity P60891/M115T CMTX5 P60891/L129I PRPS1 superactivity P60891/Q133P ARTS P60891/L152P ARTS P60891/D183H PRPS1 superactivity P60891/A190V PRPS1 superactivity P60891/H193Q PRPS1 superactivity P60891/I290T DFNX1 P60891/G306R DFNX1 Q7Z6L0/R266W EKD1 Q7Z6L0/W281R EKD1 Q7Z6L0/A287T EKD1 Q7Z6L0/G305R EKD1 Q7Z6L0/R308C EKD1 Q7Z6L0/S317N ICCA Q7Z6L0/G323E BFIS2 P54821/F113S AGOTC P0CW18/R176G MCOP6 P0CW18/G237R MCOP6 P0CW18/V302F MCOP6 P0CW18/W309S MCOP6 P0CW18/G320R MCOP6 P0CW18/C395R MCOP6 P0CW18/P599A MCOP6 P28062/G8R LMP7C P28062/PGH30RPD LPM7C P28062/T75M NKJO P28062/G201V NKJO P49768/A79V AD3 P49768/V82L AD3 P49768/C92S AD3 P49768/V96F AD3 P49768/F105L AD3 P49768/Y115C AD3 P49768/Y115H AD3 P49768/T116N AD3 P49768/P117L AD3 P49768/E120D AD3 P49768/E120K AD3 P49768/L134R AD3 P49768/N135D AD3 P49768/M139I AD3 P49768/M139K AD3 P49768/M139T AD3 P49768/M139V AD3 P49768/I143F AD3 P49768/I143T AD3 P49768/M146I AD3 P49768/M146L AD3 P49768/M146V AD3 P49768/T147I AD3 P49768/H163R AD3 P49768/H163Y AD3 P49768/W165C AD3 P49768/L166P AD3 P49768/S169L AD3 P49768/S169P AD3 P49768/L171P AD3 P49768/L173W AD3 P49768/L174M AD3 P49768/G206A AD3 P49768/G209R AD3 P49768/G209V AD3 P49768/I213T AD3 P49768/L219P AD3 P49768/A231T AD3 P49768/A231V AD3 P49768/M233L AD3 P49768/M233T AD3 P49768/L235P A3D P49768/A246E AD3 P49768/L250S AD3 P49768/A260V AD3 P49768/L262F AD3 P49768/L262V AD3 P49768/C263R AD3 P49768/P264L AD3 P49768/G266S AD3 P49768/P267S AD3 P49768/P267T AD3 P49768/R269G AD3 P49768/R269H AD3 P49768/L271V AD3 P49768/R278T AD3 P49768/E280A AD3 P49768/E280G AD3 P49768/L282R AD3 P49768/A285V AD3 P49768/L286V AD3 P49768/S289C AD3 P49768/D333G CMD1U P49768/G378E AD3 P49768/G384A AD3 P49768/S390I AD3 P49768/L392V AD3 P49768/A396T AD3 P49768/N405S AD3 P49768/A409T AD3 P49768/C410Y AD3 P49768/A426P AD3 P49768/A431E AD3 P49768/P436Q AD3 P49768/P436S AD3 P49810/R62H AD4 P49810/R71W AD4 P49810/T122P AD4 P49810/S130L CMD1V and AD4 P49810/N141I AD4 P49810/V148I AD4 P49810/M239I AD4 P49810/M239V AD4 P07988/R236C SMDP1 P11686/E66K SMDP2 P11686/I73T SMDP2 P11686/A116D SMDP2 P11686/R167Q SMDP2 P11686/L188Q SMDP2 Q5VZC2/L175P BCNS Q5VZC2/T230P BCNS Q5VZC2/F376S BCNS Q5VZC2/A393T HPE7 Q5VZC2/A443G HPE7 Q5VZC2/FL505LR BCNS Q5VZC2/G509R BCNS Q5VZC2/G509V BCNS Q5VZC2/D513Y BCNS Q5VZC2/T728M HPE7 Q5VZC2/V751G HPE7 Q5VZC2/I815IPNI BCNS Q5VZC2/S827G HPE7 Q5VZC2/V908G HPE7 Q5VZC2/T1052M HPE7 Q5VZC2/G1069R BCNS Q5VZC2/V1083VV BCNS Q5VZC2/R1114W BCNS and BCC Q5VZC2/S1132P BCNS Q5VZC2/S1132Y BCNS Q5VZC2/E1438D BCNS P60484/A34D BRRS P60484/M35R CWS1 P60484/R47G CWS1 P60484/H61D VATER P60484/I67R CWS1 P60484/Y68H CWS1 and BRRS P60484/L70P CWS1 P60484/C71Y CWS1 P60484/H93R MCEPHAS P60484/H93Y CWS1 P60484/C105F BRRS P60484/C105Y BRRS P60484/D107Y BRRS and glioblastoma P60484/L112P CWS1 and LDD P60484/A121G HNSCC P60484/H123R CWS1 P60484/C124R CWS1 P60484/C124S CWS1 P60484/G129E CWS1 P60484/R130L CWS1 and endometrial hyperplasia P60484/R130Q CWS1 P60484/I135V BRRS P60484/C136Y CWS1 P60484/A137AN CWS1 P60484/Y155C CWS1 P60484/G165E CWS1 P60484/G165V CWS1 P60484/S170R BRRS P60484/F241S MCEPHAS P60484/P246L CWS1 and BRRS P60484/D252G MCEPHAS P60484/K289E CWS1 P60484/D331G CWS1 P60484/F341V CWS1 P60484/K342N CWS1 P60484/V343E CWS1 P60484/F347L CWS1 Q03431/P132L BOCD Q03431/R150C ENCHOM Q03431/H223R JMC Q03431/T410P JMC Q03431/T410R JMC Q03431/I458R JMC Q9Y6A0/G141R BBS9 P12272/L44P BDE2 P12272/L60P BDE2 P01270/C18R FIH P01270/S23P FIH Q06124/T2I NS1 Q06124/T42A NS1 Q06124/N58K NS1 Q06124/T59A NS1 Q06124/G60A NS1 Q06124/D61G NS1 Q06124/D61N NS1 Q06124/D61V JMML Q06124/D61Y JMML Q06124/Y62D NS1 Q06124/Y63C NS1 Q06124/E69K JMML Q06124/E69Q NS1 Q06124/A72G NS1 Q06124/A72S NS1 Q06124/A72T JMML Q06124/A72V JMML Q06124/T73I NS1 Q06124/E76A JMML Q06124/E76D NS1 Q06124/E76G JMML Q06124/E76K JMML Q06124/E76V JMML Q06124/Q79P NS1 Q06124/Q79R NS1 Q06124/D106A NS1 Q06124/E139D NS1 Q06124/Q256R NS1 Q06124/Y279C NS1 and LEOPARD1 Q06124/Y279S LEOPARD1 Q06124/I282V NS1 Q06124/F285L NS1 Q06124/F285S NS1 Q06124/N308D NS1 Q06124/N308S NS1 Q06124/I309V NS1 Q06124/T415M NS1 Q06124/A465T LEOPARD1 Q06124/G468A LEOPARD1 Q06124/T472M LEOPARD1 Q06124/R502L LEOPARD1 Q06124/R502W LEOPARD1 Q06124/R505K NS1 Q06124/S506T NS1 Q06124/G507A JMML Q06124/M508V NS1 Q06124/Q510P LEOPARD1 Q06124/Q510R NS1 Q06124/Q514P LEOPARD1 Q06124/L564F NS1 Q9UMZ3/R281G DFNB84A Q03393/R16C HPABH4A Q03393/R25G HPABH4A Q03393/R25Q HPABH4A Q03393/L26F HPABH4A Q03393/E35G HPABH4A Q03393/N36K HPABH4A Q03393/N47D HPABH4A Q03393/N52S HPABH4A Q03393/V56M HPABH4A Q03393/T67M HPABH4A Q03393/V70D HPABH4A Q03393/P87L HPABH4A Q03393/P87S HPABH4A Q03393/D96N HPABH4A Q03393/V97M HPABH4A Q03393/Y99C HPABH4A Q03393/F100V HPABH4A Q03393/T106M HPABH4A Q03393/I114V HPABH4A Q03393/D116G HPABH4A Q03393/V124L HPABH4A Q03393/K129E HPABH4A Q03393/D136G HPABH4A Q03393/D136V HPABH4A P30566/A2V ADSL deficiency P30566/A3V ADSL deficiency P30566/M26L ADSL deficiency P30566/I72V ADSL deficiency P30566/P100A ADSL deficiency P30566/Y114H ADSL deficiency P30566/R141W ADSL deficiency P30566/R190Q ADSL deficiency P30566/R194C ADSL deficiency P30566/K246E ADSL deficiency P30566/D268N ADSL deficiency P30566/R303C ADSL deficiency P30566/L311V ADSL deficiency P30566/P318L ADSL deficiency P30566/V364M ADSL deficiency P30566/R374W ADSL deficiency P30566/S395R ADSL deficiency P30566/R396C ADSL deficiency P30566/R396H ADSL deficiency P30566/D422Y ADSL deficiency P30566/L423V ADSL deficiency P30566/R426H ADSL deficiency P30566/D430N ADSL deficiency P30566/S438P ADSL deficiency P30566/S447P ADSL deficiency P30566/T450S ADSL deficiency P30566/R452P ADSL deficiency P31939/K426R AICAR Q96NY8/T185M EDSS1 P11498/V145A PC deficiency P11498/R156Q PC deficiency P11498/R270W PC deficiency P11498/Y304C PC deficiency P11498/R451C PC deficiency P11498/R583L PC deficiency P11498/A610T PC deficiency P11498/R631Q PC deficiency P11498/M743I PC deficiency Q641R5/N339S GSD6 Q641R5/N377K GSD6 P11217/L116P GSD5 P11217/R194W GSD5 P11217/G205S GSD5 P11217/L292P GSD5 P11217/E349K GSD5 P11217/L397P GSD5 P11217/T488N GSD5 P11217/K543T GSD5 P11217/R602W GSD5 P11217/E655K GSD5 P11217/A660D GSD5 P11217/Q666E GSD5 P11217/N685Y GSD5 P11217/G686R GSD5 P11217/A687P GSD5 P11217/A704V GSD5 P11217/W798R GSD5 Q02127/G19E POADS Q02127/R135C POADS Q02127/G152R POADS Q02127/R199C POADS Q02127/G202A POADS Q02127/G202D POADS Q02127/R244W POADS Q02127/T284I POADS Q02127/R346W POADS Q02127/D392G POADS Q04671/R10W OCA2 Q04671/G27R OCA2 Q04671/S86R OCA2 Q04671/C112F OCA2 Q04671/P198L OCA2 Q04671/P211L OCA2 Q04671/NW273KV OCA2 Q04671/R290G OCA2 Q04671/A334V OCA2 Q04671/A368V OCA2 Q04671/F385I OCA2 Q04671/M394I OCA2 Q04671/M395L OCA2 Q04671/T404M OCA2 Q04671/R419W OCA2 Q04671/V443I OCA2 Q04671/M446V OCA2 Q04671/I473S OCA2 Q04671/N476D OCA2 Q04671/A481T OCA2 Q04671/N489D OCA2 Q04671/H549Q OCA2 Q04671/T592I OCA2 Q04671/K614E OCA2 Q04671/K614N OCA2 Q04671/I617L OCA2 Q04671/W652R OCA2 Q04671/W679C OCA2 Q04671/W679R OCA2 Q04671/R720C OCA2 Q04671/A724P OCA2 Q04671/S736L OCA2 Q04671/P743L OCA2 and unclassified OCA Q04671/G775R OCA2 Q04671/A787V OCA2 Q04671/G795R OCA2 Q04671/Q799H OCA2 Q04671/Y827H OCA2 P22695/R183W MC3DN5 O14949/S45F MC3DN4 O43502/G125V BROVCA3 O43502/L138F BROVCA3 O43502/G162E BROVCA3 O43502/Q178P BROVCA3 O43502/R258H FANCO O43502/T287A BROVCA3 Q9NP72/L24Q WARBM3 Q9ULC3/M12K CRPT1 Q9ULC3/C85R CRPT1 P51149/L129F CMT2B P51149/K157N CMT2B P51149/N161T CMT2B P51149/V162M CMT2B P15153/D57N NEUID O60216/P376R CDLS4 O60216/C585R CDLS4 Q06609/R150Q BC P35241/D578N DFNB24 P24386/Q471L CHM P24386/H507R CHM P24386/L550P CHM P04049/R256S NS5 P04049/S257L NS5 and LEOPARD2 P04049/S259F NS5 P04049/T260R NS5 P04049/P261A NS5 P04049/P261L NS5 P04049/P261S NS5 P04049/V263A NS5 P04049/D486G NS5 P04049/D486N NS5 P04049/T491I NS5 P04049/T491R NS5 P04049/S612T NS5 P04049/L613V NS5 and LEOPARD2 P15918/R314W CHIDG P15918/C328Y OS P15918/R396C OS P15918/R396H OS P15918/R396L OS P15918/S401P OS P15918/R410Q OS/T(- P15918/D429G OS P15918/V433M T(- P15918/M435V OS P15918/A444V OS/T(- P15918/L454Q OS P15918/R474H OS/T(- P15918/R507W OS/T(- P15918/W522C OS/T(- P15918/R559S T(- P15918/R561C OS P15918/R561H OS P15918/R624C OS P15918/R624H T(- P15918/E669G OS P15918/R699W OS P15918/E722K T(- P15918/R737H OS and CHIDG P15918/H753L OS/T(- P15918/R778Q CHIDG P15918/R841W T-CMVA P15918/L885R OS P15918/Y912C OS P15918/R975Q OS P15918/R975W CHIDG P15918/Q981P T-CMVA P55895/C41W OS P55895/T77N CHIDG P55895/R229Q T(- P55895/M285R OS P55895/G451A CHIDG P55895/C478Y T(- Q13702/L14P CMS-ACHRD Q13702/V45M CMS-ACHRD Q13702/N88K CMS-ACHRD Q13702/F139S FADS Q13702/E162K CMS-ACHRD Q13702/R164C CMS-ACHRD Q13702/A189V FADS Q13702/L283P CMS-ACHRD P20936/C540Y CMAVM P01112/G12A FCSS P01112/G12C FCSS P01112/G12D FCSS P01112/G12E FCSS P01112/G12S FCSS, OSCC and CMEMS P01112/G12V FCSS, bladder carcinoma and CMEMS P01112/G13C FCSS P01112/G13D FCSS P01112/G13R SFM P01112/Q22K CMEMS P01112/E37EE FCSS P01112/T58I FCSS P01112/E63K CMEMS P01112/K117R FCSS P01112/A146T FCSS P01112/A146V FCSS P01116/K5E NS3 P01116/K5N GASC P01116/V14I NS3 P01116/Q22E CFC2 P01116/Q22R NS3 P01116/P34L NS3 P01116/P34Q NS3 P01116/P34R CFC2 P01116/I36M NS3 P01116/T58I NS3 P01116/G60R CFC2 P01116/G60S NS3 P01116/Y71H CFC2 P01116/K147E CFC2 P01111/G13D ALPS4 P01111/T50I NS6 P01111/G60E NS6 Q96IS3/R87Q ARMD6 Q96IS3/G137R CORD11 Q96IS3/P140PGP CORD11 P51159/W73G GS2 P51159/L130P GS2 P51159/A152P GS2 Q9H082/K46Q SMC2 Q9H082/N148K SMC2 P0C0E4/D59G MRXSMP Q9H2M9/G1052C MARTS Q5T481/V535I CMD1DD Q5T481/R634Q CMD1DD Q5T481/R634W CMD1DD Q5T481/S635A CMD1DD Q5T481/R636C CMD1DD Q5T481/R636H CMD1DD Q5T481/R636S CMD1DD Q5T481/S637G CMD1DD Q5T481/P638L CMD1DD Q5T481/R716Q CMD1DD Q9NW13/L351P ANES P49792/T585M IIAE3 P49792/T653I IIAE3 P49792/I656V IIAE3 P06400/E72Q RB P06400/E137D RB P06400/I185T RB P06400/G310E RB P06400/R358G RB P06400/R358Q RB P06400/K447Q RB P06400/M457R RB P06400/R500G RB P06400/K530R RB P06400/H549Y RB P06400/S567L RB P06400/K616E RB P06400/A635P RB P06400/V654E RB P06400/L657P RB P06400/R661W RB P06400/L662P RB P06400/H673P RB P06400/Q685P RB P06400/C706Y RB P06400/C712R RB P06400/N803K RB Q96NR8/T49M LCA13 Q96NR8/I51N LCA13 Q96NR8/G76R RP53 Q96NR8/L99I LCA13 Q96NR8/A126V RP53 Q96NR8/H151D LCA13 Q96NR8/H151N LCA13 Q96NR8/S175P LCA13 Q96NR8/Y226C LCA13 Q96NR8/P230A LCA13 Q92781/G35S RPA Q92781/S73F RPA Q92781/L105I RPA Q92781/G107R RPA Q92781/D128N RPA Q92781/V132M RPA Q92781/R157W RPA Q92781/V164F RPA Q92781/V177G RPA Q92781/G238W RPA Q92781/V264G RPA Q92781/C267W RPA Q92781/R280H RPA Q92781/Y281H RPA Q92781/A294P RPA Q92781/L310EV RPA O94761/R1021W BGS Q9H902/P19L SPG31 Q9H902/A20E SPG31 Q9H902/S23F SPG31 Q9H902/W42R SPG31 Q9H902/D56N SPG31 Q9BZI7/Y160D MRXS14 P00797/L16R HNFJ2 P00797/D104N RTD P00797/R230K RTD P10745/D1080N RP66 P02753/I59N RDCCAS P02753/G93D RDCCAS P07949/P20L HSCR1 P07949/S32L HSCR1 P07949/L40P HSCR1 P07949/P64L HSCR1 P07949/R67H CCHS P07949/R77C HSCR1 P07949/G93S HSCR1 P07949/R114C HSCR1 P07949/R114H CCHS and HSCR1 P07949/C142S HSCR1 P07949/V145G HSCR1 P07949/P155L HSCR1 P07949/C157Y HSCR1 P07949/F174S HSCR1 P07949/R175P HSCR1 P07949/R180P HSCR1 P07949/C197Y HSCR1 P07949/P198T RADYS P07949/R231H HSCR1 P07949/E251K HSCR1 P07949/T278A HSCR1 P07949/T278P HSCR1 P07949/R287Q HSCR1 P07949/D300N HSCR1 P07949/R313Q HSCR1 P07949/S316I HSCR1 P07949/R330Q HSCR1 P07949/S339L HSCR1 P07949/D353Y HSCR1 P07949/N359K HSCR1 P07949/R360Q HSCR1 P07949/R360W HSCR1 P07949/V376A RADYS P07949/F393L HSCR1 P07949/N394H RADYS P07949/N394K HSCR1 P07949/V397M HSCR1 P07949/P399L HSCR1 P07949/V412M HSCR1 P07949/G423R HSCR1 P07949/A432E CCHS P07949/R475Q HSCR1 P07949/E480K HSCR1 P07949/C531CEEC MTC P07949/E595Q HSCR1 P07949/C609G MEN2A P07949/C609R MEN2A P07949/C609W HSCR1 P07949/C609Y MTC, MEN2A and HSCR1 P07949/C611G MTC P07949/C611R MEN2A P07949/C611S MEN2A P07949/C611W MEN2A and MTC P07949/C611Y MEN2A P07949/C618F MEN2A and MTC P07949/C618G MEN2A P07949/C618R MEN2A, MTC and HSCR1 P07949/C618S MEN2A, HSCR1 and MTC P07949/C618Y MEN2A and MTC P07949/C620F MEN2A and MTC P07949/C620G MEN2A and MTC P07949/C620R MEN2A, MTC and HSCR1 P07949/C620S MEN2A and MTC P07949/C620W MEN2A and HSCR1 P07949/C620Y MEN2A P07949/Q626K HSCR1 P07949/C630F MEN2A and MTC P07949/C630S MTC P07949/C630Y MTC P07949/ELC632DVR MEN2A P07949/CR634WG MEN2A P07949/C634CHELC MEN2A P07949/C634F MEN2A and pheochromocytoma P07949/C634G MEN2A and pheochromocytoma P07949/C634R MEN2A, pheochromocytoma and MTC P07949/C634S MEN2A, pheochromocytoma and MTC P07949/C634W MEN2A, pheochromocytoma and MTC P07949/C634Y MEN2A, pheochromocytoma and MTC P07949/T636TCRT MEN2A P07949/A639G MTC P07949/A640G MEN2A P07949/A641G MTC P07949/P679L HSCR1 P07949/S690P HSCR1 P07949/R694Q HSCR1 P07949/E762Q HSCR1 P07949/S765P HSCR1 P07949/S767R HSCR1 P07949/E768D MTC P07949/V778I RADYS P07949/N783S HSCR1 P07949/L790F MEN2A and MTC P07949/Y791F HSCR1, pheochromocytoma, MTC and MEN2A P07949/V804L MTC P07949/V804M MTC P07949/R813Q HSCR1 P07949/G830R HSCR1 P07949/R844L MTC P07949/R873Q HSCR1 P07949/A883F MEN2B P07949/S891A MTC P07949/F893L HSCR1 P07949/G894S RADYS P07949/R897Q HSCR1 P07949/K907E HSCR1 P07949/K907T HSCR1 P07949/M918T RADYS, MEN2B and MTC P07949/E921K HSCR1 P07949/S922F MTC P07949/T946M MEN2B and MTC P07949/F961L HSCR1 P07949/R972G HSCR1 P07949/P973L HSCR1 P07949/M980T HSCR1 P07949/P1039L CCHS P07949/P1049L RADYS P07949/L1052V HSCR1 P07949/L1061P HSCR1 P07949/Y1062C HSCR1 P07949/M1064T HSCR1 P07949/P1067S RADYS Q96AA3/R67C CDG1N Q96AA3/K152E CDG1N Q96AA3/E298K CDG1N P48382/R149Q BLS2 Q8HWS3/R181Q MIRIS Q8HWS3/S217P MIRIS O14593/L195P BLS2 Q6ZVN8/C80R HFE2A Q6ZVN8/S85P HFE2A Q6ZVN8/G99R HFE2A Q6ZVN8/L101P HFE2A Q6ZVN8/A168D HFE2A Q6ZVN8/F170S HFE2A Q6ZVN8/D172E HFE2A Q6ZVN8/W191C HFE2A Q6ZVN8/S205R HFE2A Q6ZVN8/I222N HFE2A Q6ZVN8/G250V HFE2A Q6ZVN8/R288W HFE2A Q6ZVN8/G320V HFE2A Q6ZVN8/C321W HFE2A P47804/S66R RP44 O75916/W299R PERRS Q02094/S79N RHN Q02094/V270I RHN Q02094/G279E RHN Q02094/G280R RHN Q02094/G380V RHN Q9UD74/A36T C(X Q9UD74/Q41R C(W Q9UD74/P103S C/Rh2 antigen Q9UD74/R154T RhEKH Q9UD74/P226A E/Rh5 antigen Q9UD74/Q233E RhEFM Q9UD74/M238V RhEFM Q9UD74/L245V VS antigen Q6PJF5/I186T TOC Q6PJF5/P189L TOC Q5XLT1/L110P Tar antigen Q5XLT1/F223V RhDVa(FK Q5XLT1/E233Q RhDVa(FK Q5XLT1/V238M RhDVa(TO Q5XLT1/V245L RhDVa(TT Q9UNA1/N417S JMML Q8TDY9/R820H CORD7 P57078/I81N PPS-L P57078/I121N PPS-L P57078/T184I PPS-L Q9NTD8/W64R MTDPS8A Q9NTD8/R110H MTDPS8B Q9NTD8/R121H MTDPS8B Q9NTD8/E194G MTDPS8A Q9NTD8/E194K MTDPS8A Q9NTD8/I224S MTDPS8A Q9NTD8/C236F MTDPS8A Q9NTD8/M282I MTDPS8A Q9NTD8/L317V MTDPS8A Q15835/V380D CSNBO2 Q15835/P391H CSNBO2 P27635/L206M AUTSX5 P27635/H213Q AUTSX5 P62913/L20H DBA7 P46778/R32Q HTS P18077/V33I DBA5 P46777/G140S DBA6 P46777/A285V DBA6 P12271/R151Q ARRP P12271/M226K FA P12271/R234W BRD P09001/P317R COXPD9 Q9NWS8/R417Q COXPD11 Q8IUD6/R286H MMFD Q8NG30/R199C SNAX1 Q9HCF4/R4810K MYMY2 Q9NWF9/R660C CAHH Q9NWF9/R694C CAHH O75792/G37S AGS4 Q5TBB1/L60R AGS2 Q5TBB1/H86R AGS2 Q5TBB1/K162T AGS2 Q5TBB1/T163I AGS2 Q5TBB1/A177T AGS2 Q5TBB1/V185G AGS2 Q5TBB1/Y219H AGS2 Q8TDP1/R69W AGS3 Q8TDP1/K143I AGS3 O00584/C184R LCWM Q9BQ52/R211Q HPC2 Q9BQ52/S217L HPC2 Q9BQ52/G487R HPC2 Q9BQ52/A541T HPC2 Q9BQ52/E622V HPC2 Q9BQ52/R781H HPC2 Q9BQ52/G806R HPC2 Q9HCK4/I945T VUR2 Q9HCK4/A1236T VUR2 Q96MS0/L5P HGPPS Q96MS0/I66L HGPPS Q96MS0/E319K HGPPS Q96MS0/G361E HGPPS Q96MS0/R703P HGPPS Q96MS0/S705P HGPPS Q01974/C182Y RRS Q01974/R184C RRS Q01974/R189W RRS Q01974/R366W RRS Q01974/N620K RRS Q8IWN7/R45W OCMD Q8IWN7/W960R OCMD Q8IWN7/S1199C OCMD P56715/L172R RP1 P56715/D202E RP1 P56715/T373I RP1 P56715/K663N RP1 P56715/A669T RP1 P56715/K900N RP1 P56715/D984G RP1 P56715/K1370E RP1 P56715/R1652L RP1 P56715/L1808P RP1 P56715/T2113N RP1 Q8TA86/H137L RP9 Q8TA86/D170G RP9 O15160/R279Q TCS3 O15160/R279W TCS3 Q9Y2S0/E47K TCS2 Q9Y2S0/T50I TCS2 Q9Y2S0/L51R TCS2 Q9Y2S0/G52E TCS2 Q9Y2S0/R56C TCS2 Q9Y2S0/L82S TCS2 Q9Y2S0/G99S TCS2 O14802/D372N HLD7 O14802/F558L HLD7 O14802/S636Y HLD7 O14802/G672E HLD7 O14802/C724Y HLD7 O14802/N775I HLD7 O14802/M852V HLD7 O14802/I897N HLD7 O14802/R1005C HLD7 O14802/T1247TT HLD7 Q9NW08/T503K HLD8 Q9NW08/V523E HLD8 Q9NW08/R768H HLD8 Q9NW08/D926E HLD8 Q16518/L22P LCA2 Q16518/G40S LCA2 Q16518/R44Q LCA2 Q16518/H68Y LCA2 Q16518/F70V LCA2 and RP20 Q16518/Y79H RP20 Q16518/R85H RP20 Q16518/R91P LCA2 Q16518/R91Q LCA2 Q16518/R91W RP20 Q16518/E95Q RP20 Q16518/E102K RP20 and LCA2 Q16518/A132T RP20 Q16518/Y144D LCA2 Q16518/E148D LCA2 Q16518/D167Y RP20 and LCA2 Q16518/H182N LCA2 Q16518/H182Y LCA2 Q16518/Y239D LCA2 and RP20 Q16518/V287F LCA2 Q16518/K294T RP20 Q16518/H313R LCA2 Q16518/N321K LCA2 Q16518/C330Y LCA2 Q16518/L341S RP20 Q16518/P363T LCA2 Q16518/Y368H RP20 Q16518/A393E LCA2 Q16518/A393G LCA2 Q16518/E417Q LCA2 Q16518/Y431C LCA2 Q16518/A434V LCA2 Q16518/Y435C LCA2 Q16518/G436V RP20 Q16518/V452G RP20 Q16518/P470L LCA2 Q16518/V473D RP20 Q16518/R515W RP20 Q16518/G528V RP20 Q96KN7/A547S CORD13 Q96KN7/H631P LCA6 Q96KN7/G746E LCA6 Q96KN7/R827L CORD13 Q96KN7/D1114G LCA6 Q9HD29/G43E RP3 Q9HD29/G43R RP3 Q9HD29/G60V RP3 Q9HD29/I75V RP3 Q9HD29/H98Q RP3 Q9HD29/T99N RP3 Q9HD29/R127G RP3 Q9HD29/F130C RP3 Q9HD29/S152L RP3 Q9HD29/G173R RP3 and RPDSI Q9HD29/G215V RP3 Q9HD29/P235S RP3 Q9HD29/C250R RP3 Q9HD29/C250Y RP3 Q9HD29/A262G RP3 Q9HD29/G267E RP3 Q9HD29/G267R RP3 Q9HD29/G275S RP3 Q9HD29/E285G RP3 Q9HD29/I289V RP3 Q9HD29/C302R RP3 Q9HD29/C302Y RP3 Q9HD29/D312N RP3 Q9HD29/D312Y RP3 Q9HD29/G320R RP3 Q9HD29/G436D RP3 P49247/A135V RPID P39019/V15F DBA1 P39019/A17P DBA1 P39019/LA18E DBA1 P39019/L18P DBA1 P39019/L18R DBA1 P39019/F21S DBA1 P39019/P47L DBA1 P39019/W52C DBA1 P39019/W52R DBA1 P39019/T55M DBA1 P39019/R56Q DBA1 P39019/A57P DBA1 P39019/S59F DBA1 P39019/A61E DBA1 P39019/R62Q DBA1 P39019/R62W DBA1 P39019/L64P DBA1 P39019/T76P DBA1 P39019/IYGGRQ78R DBA1 P39019/R101H DBA1 P39019/G120R DBA1 P39019/G127E DBA1 P39019/L131P DBA1 P39019/L131R DBA1 P39019/A135T DBA1 P62854/D33N DBA10 P62854/M115T DBA10 Q5TD94/P87S CILD11 Q2I0M5/Q65R NDNC4 Q2I0M5/C95F NDNC4 Q2I0M5/C107R NDNC4 Q2I0M5/C118Y NDNC4 P82650/R170H COXPD5 Q9Y4R6/E251K DKCB5 Q9Y4R6/M492I DKCB5 Q9Y4R6/E591D DKCB5 Q9Y4R6/I699M DKCB5 Q9Y4R6/L710R DKCB5 Q9Y4R6/G739V DKCB5 Q9Y4R6/V745M DKCB5 Q9Y4R6/K897E DKCB5 Q9Y4R6/R957W DKCB5 Q9Y4R6/F964L DKCB5 O75298/S367F SPG12 Q9UFJ4/C27Y PMGYS Q9UFJ4/L932F PMGYS Q16122/R139Q FPDMM Q16122/R174Q FPDMM Q13950/Q53L CLCD Q13950/A84AAAAAAAAAAA CLCD associated with brachydactyly of hands and feet Q13950/L113R CLCD Q13950/S118N CLCD Q13950/S118R CLCD Q13950/F121C CLCD Q13950/C123R CLCD Q13950/R131C CLCD Q13950/R131G CLCD Q13950/R131S CLCD Q13950/L136P CLCD Q13950/V156D CLCD Q13950/V156G CLCD Q13950/R169P CLCD Q13950/R169Q CLCD Q13950/M175K CLCD Q13950/M175R CLCD Q13950/M175V CLCD Q13950/F187S CLCD Q13950/R190Q CLCD Q13950/R190W CLCD Q13950/S191N CLCD Q13950/R193C CLCD Q13950/R193Q CLCD Q13950/F197S CLCD Q13950/L199F CLCD Q13950/T200A CLCD Q13950/T200I CLCD Q13950/I201K CLCD Q13950/T205R CLCD Q13950/Q209H CLCD Q13950/Q209R CLCD Q13950/A211P CLCD Q13950/K218E CLCD Q13950/K218N CLCD Q13950/K218Q CLCD Q13950/T220I CLCD Q13950/R225L CLCD Q13950/R225Q CLCD Q13950/R225W CLCD Q13950/R228G CLCD Q13950/K233R CLCD Q13950/D287N CLCD Q13950/A362V CLCD Q13950/T420I CLCD Q13950/T420N CLCD Q13950/G511S CLCD P62304/G45S HYPT11 Q8WXD0/T222P CRYPTO Q9Y2V3/R192Q MCOP3 P21817/L13R MHS1 P21817/L13V CCD P21817/C35R MHS1 P21817/R44C CCD and MHS1 P21817/R109W MMDO P21817/E160G CCD P21817/R163C CCD and MHS1 P21817/R163L MHS1 P21817/G165R MHS1 P21817/D166N MHS1 P21817/R177C MHS1 P21817/Y178C MHS1 P21817/G215E CCD P21817/M226K MHS1 P21817/D227V MHS1 P21817/G248R MHS1 P21817/R328W MHS1 P21817/G341R MHS1 P21817/R367L MHS1 P21817/H382N MHS1 P21817/R401C MHS1 P21817/R401H MHS1 P21817/R401S MHS1 P21817/M402T CD P21817/I403M CCD and MHS1 P21817/Y522S CCD and MHS1 P21817/R530H MHS1 P21817/R533C MHS1 P21817/R533H MHS1 P21817/D544Y MHS1 P21817/R552W MHS1 P21817/R614C CCD and MHS1 P21817/R614L MHS1 P21817/R1043C MHS1 P21817/E1058K MHS1 P21817/A1352G MHS1 P21817/G1704S CCD P21817/H2035L CD P21817/V2117L MHS1 P21817/D2129E MHS1 P21817/R2163C MHS1 P21817/R2163H CCD and MHS1 P21817/R2163P MHS1 P21817/V2168M CCD and MHS1 P21817/H2204Q CCD P21817/T2206M MHS1 P21817/T2206R MHS1 P21817/V2214I MHS1 P21817/V2280I MHS1 P21817/R2336H MHS1 P21817/N2342S MHS1 P21817/E2344D MHS1 P21817/V2346M MHS1 P21817/E2348G MHS1 P21817/A2350T MHS1 P21817/R2355C MHS1 P21817/A2367T MHS1 P21817/E2404K MHS1 P21817/A2421P CCD P21817/M2423K MMDO and CCD P21817/A2428T MHS1 P21817/D2431N MHS1 P21817/G2434R MHS1 P21817/R2435H CCD and MHS1 P21817/R2435L MHS1 P21817/A2437V MHS1 P21817/R2452W MHS1 P21817/R2454C MHS1 P21817/R2454H CCD and MHS1 P21817/R2458C MHS1 P21817/R2458H MHS1 P21817/R2508G CCD P21817/R2676W MHS1 P21817/D2730G MHS1 P21817/T2787S MHS1 P21817/E2880K MHS1 P21817/S3217P MHS1 P21817/E3290K MHS1 P21817/N3326K CD P21817/R3366H CCD P21817/C3402G CD P21817/P3527S CCD P21817/R3539H CCD P21817/R3772Q CCD P21817/R3772W MHS1 P21817/G3806R MHS1 P21817/I3916M MHS1 P21817/Y3933C CCD P21817/R4136S MHS1 P21817/V4234L MHS1 P21817/P4501L MHS1 P21817/R4558Q CCD P21817/T4637A CCD P21817/G4638D CCD P21817/L4650P CCD P21817/H4651P CCD P21817/F4684S MHS1 P21817/K4724Q CCD P21817/R4737Q MHS1 P21817/R4737W MHS1 P21817/G4743D CCD P21817/L4793P CCD P21817/Y4796C CCD P21817/L4814F CCD P21817/L4824P MHS1 P21817/R4825C CCD P21817/T4826I MHS1 P21817/L4838V MHS1 P21817/V4842M CCD P21817/A4846V CCD P21817/V4849I MHS1 and CCD P21817/R4861C CCD P21817/R4861H CCD P21817/FYNKSED4863Y CCD P21817/Y4864C CCD P21817/K4876R MHS1 P21817/T4882M CCD P21817/G4891R CCD P21817/R4893Q CCD P21817/R4893W CCD P21817/G4897V CCD P21817/I4898T CCD P21817/G4899E CCD P21817/G4899R CCD P21817/A4906V CCD P21817/R4914G CCD P21817/R4914T CCD P21817/I4938M CCD P21817/I4938T MHS1 P21817/D4939E MHS1 P21817/A4940T CCD P21817/G4942V MHS1 P21817/P4973L MHS1 Q92736/P164S CPVT1 Q92736/R176Q ARVD2 and CPVT1 Q92736/R414L CPVT1 Q92736/I419F CPVT1 Q92736/R420W CPVT1 Q92736/L433P ARVD2 and CPVT1 Q92736/S2246L CPVT1 Q92736/V2306I CPVT1 Q92736/E2311D CPVT1 Q92736/P2328S CPVT1 Q92736/N2386I ARVD2 and CPVT1 Q92736/A2387P CPVT1 Q92736/Y2392C CPVT1 Q92736/A2403T CPVT1 Q92736/R2474S CPVT1 Q92736/T2504M ARVD2 and CPVT1 Q92736/L3778F CPVT1 Q92736/G3946S CPVT1 Q92736/N4097S CPVT1 Q92736/N4104K CPVT1 Q92736/E4146K CPVT1 Q92736/T4158P CPVT1 Q92736/Q4201R CPVT1 Q92736/R4497C CPVT1 Q92736/F4499C CPVT1 Q92736/M4504I CPVT1 Q92736/A4510T CPVT1 Q92736/A4607P CPVT1 Q92736/V4653F CPVT1 Q92736/G4671R CPVT1 Q92736/V4771I CPVT1 Q92736/I4848V CPVT1 Q92736/A4860G CPVT1 Q92736/I4867M CPVT1 Q92736/V4880A CPVT1 Q92736/N4895D CPVT1 Q92736/P4902L CPVT1 Q92736/E4950K CPVT1 Q92736/R4959Q CPVT1 Q13621/V272F BS1 Q13621/D648N BS1 P55017/T60M GS P55017/D62N GS P55017/E68K GS P55017/H69N GS P55017/H90Y GS P55017/R145H GS P55017/V153M GS P55017/I154F GS P55017/R158Q GS P55017/T163M GS P55017/W172R GS P55017/S178L GS P55017/T180K GS P55017/G186D GS P55017/R209Q GS P55017/R209W GS P55017/L215P GS P55017/A226T GS P55017/G230D GS P55017/R261H GS P55017/S283Y GS P55017/K284R GS P55017/T304P GS P55017/A313V GS P55017/G316V GS P55017/R321W GS P55017/R334W GS P55017/G342A GS P55017/P349L GS P55017/G374V GS P55017/R399C GS P55017/C421R GS P55017/G439S GS P55017/G463E GS P55017/A464T GS P55017/K478E GS P55017/D486N GS P55017/G496C GS P55017/L542P GS P55017/S555L GS P55017/P560H GS P55017/A569E GS P55017/A569V GS P55017/V578M GS P55017/A588V GS P55017/G613S GS P55017/S615L GS P55017/S615W GS P55017/L623P GS P55017/G630V GS P55017/R642C GS P55017/R642G GS P55017/R642H GS P55017/P643L GS P55017/T649R GS P55017/R655C GS P55017/R655H GS P55017/R655L GS P55017/M672I GS P55017/V677L GS P55017/V677M GS P55017/G729V GS P55017/G731R GS P55017/L738R GS P55017/G741R GS P55017/L849H GS P55017/L850P GS P55017/R852C GS P55017/R852H GS P55017/R852S GS P55017/G867S GS P55017/R871H GS P55017/R955Q GS P55017/R958G GS P55017/C985Y GS Q9NRA2/R39C SD Q9NRA2/K136E SD Q9NRA2/H183R ISSD Q9NRA2/P334R ISSD Q9NRA2/G371V ISSD O60779/D93H TRMA O60779/S143F TRMA O60779/G172D TRMA Q9BZV2/G23V THMD2 Q9BZV2/T422A THMD2 Q08357/G498R IBGC3 Q08357/E575K IBGC3 Q08357/T595M IBGC3 Q08357/S601L IBGC3 Q08357/S601W IBGC3 O76082/G12S CDSP O76082/G15W CDSP O76082/F17L CDSP O76082/R19P CDSP O76082/S26N CDSP O76082/N32S CDSP O76082/P46S CDSP O76082/R83L CDSP O76082/D122Y CDSP O76082/A142S CDSP O76082/R169Q CDSP O76082/R169W CDSP O76082/M179L CDSP O76082/L186P CDSP O76082/Y211C CDSP O76082/A214V CDSP O76082/R227H CDSP O76082/T232M CDSP O76082/G234R CDSP O76082/G242V CDSP O76082/R257W CDSP O76082/T264R CDSP O76082/S280F CDSP O76082/R282Q CDSP O76082/W283C CDSP O76082/W283R CDSP O76082/A301D CDSP O76082/W351R CDSP O76082/S355L CDSP O76082/S362L CDSP O76082/P398L CDSP O76082/R399Q CDSP O76082/R399W CDSP O76082/T440M CDSP O76082/A442I CDSP O76082/F443V CDSP O76082/V446F CDSP O76082/Y447C CDSP O76082/Y449D CDSP O76082/E452K CDSP O76082/P455R CDSP O76082/S467C CDSP O76082/T468R CDSP O76082/R471C CDSP O76082/R471P CDSP O76082/P478L CDSP O76082/R488C CDSP O76082/R488H CDSP O76082/L507S CDSP Q8TCC7/V281A 6% of African-Americans Q8TCC7/I305F 3.5% of Asian-American Q96S37/R90H RHUC1 Q96S37/V138M RHUC1 Q96S37/G164S RHUC1 Q96S37/T217M RHUC1 Q96S37/E298D RHUC1 Q96S37/Q382L RHUC1 Q96S37/L418R RHUC1 Q96S37/M430T RHUC1 Q96S37/R477H RHUC1 Q96DW6/G130E PRARSA Q96DW6/R134H PRARSA Q96DW6/R187P PRARSA Q96DW6/D209H PRARSA P50443/G255E AO2 P50443/F256S EDM4 P50443/R279W AO2 and EDM4 P50443/N425D ACG1B P50443/C653S EDM4 P50443/G678V ACG1B P50443/A715V AO2 and EDM4 P40879/G120S DIAR1 P40879/H124L DIAR1 P40879/P129L DIAR1 P40879/P131L DIAR1 P40879/P131R DIAR1 P40879/M136I DIAR1 P40879/Y204D DIAR1 P40879/S206P DIAR1 P40879/H220P DIAR1 P40879/C343Y DIAR1 P40879/FGIAMV344DA DIAR1 P40879/G379A DIAR1 P40879/S398F DIAR1 P40879/D468V DIAR1 P40879/L496R DIAR1 P40879/Y520C DIAR1 P40879/K521N DIAR1 P40879/I544N DIAR1 P40879/D652N DIAR1 O43511/R24G Pendred syndrome/deafness individuals O43511/S28R PDS and DFNB4 O43511/E29Q PDS O43511/Y78C PDS O43511/S90L DFNB4 O43511/G102R PDS O43511/A104V Pendred syndrome/deafness individuals O43511/Y105C PDS O43511/A106D PDS O43511/L117F DFNB4 and PDS O43511/P123S DFNB4 O43511/T132I DFNB4 O43511/S133T PDS O43511/S137P PDS O43511/V138F PDS O43511/G139A PDS O43511/M147V DFNB4 O43511/T193I PDS O43511/G209V DFNB4 and PDS O43511/L236P PDS and DFNB4 O43511/V239D PDS and DFNB4 O43511/S252P DFNB4 O43511/D271H PDS O43511/V281I DFNB4 O43511/F335L PDS and DFNB4 O43511/K369E DFNB4 O43511/A372V DFNB4 O43511/E384G PDS and PDS/DFNB4 O43511/S391N PDS O43511/N392Y DFNB4 O43511/V402M PDS and DFNB4 O43511/R409H PDS O43511/R409P DFNB4 O43511/T410M DFNB4 and PDS O43511/A411P PDS O43511/T416P PDS and DFNB4 O43511/Q421R Pendred syndrome/deafness individuals O43511/L445W PDS and DFNB4 O43511/Q446R DFNB4 and PDS O43511/I455F DFNB4 O43511/N457K DFNB4 O43511/V480D PDS O43511/I490L DFNB4 O43511/G497S DFNB4 O43511/T508N PDS O43511/Q514R PDS O43511/Y530H PDS O43511/Y530S PDS and DFNB4 O43511/S552I PDS O43511/Y556C PDS O43511/Y556H PDS O43511/N558K DFNB4 O43511/C565Y PDS O43511/V653A PDS O43511/S666F DFNB4 O43511/F667C PDS O43511/G672E PDS O43511/L676Q DFNB4 O43511/F683S Pendred syndrome/deafness individuals O43511/S694P PDS O43511/T721M DFNB4 and PDS O43511/H723R DFNB4 and PDS O43511/D724N PDS O43511/M775T PDS and DFNB4 Q96RN1/R87Q SPGF3 Q96RN1/E812K SPGF3 Q96RN1/R954C SPGF3 Q6P1M0/A92T IPS Q6P1M0/S247P IPS Q6P1M0/Q300R IPS Q6P1M0/R374C IPS Q6P1M0/R583H IPS O00337/E34G A O00337/L140LV A O00337/V189I A O00337/N409S B O00337/D521N B and C Q9BWI2/M116R HLAS Q9BWI2/R134C HLAS Q9BWI2/S184R HLAS Q9BWI2/R363Q HLAS Q9BWI2/R363W HLAS Q9BWI2/G427S HLAS Q9BWI2/G437R HLAS Q9BWI2/T449R HLAS P78381/V331I CDG2M Q495M3/G87V HG and IG Q6P5W5/P84L AEZ Q6P5W5/R95C AEZ Q6P5W5/N106K AEZ Q6P5W5/P200L AEZ Q6P5W5/R251W AEZ Q6P5W5/Q303H AEZ Q6P5W5/C309Y AEZ Q6P5W5/G330D AEZ Q6P5W5/L372P AEZ Q6P5W5/G374R AEZ Q6P5W5/L410P AEZ Q6P5W5/G526R AEZ Q6P5W5/G630R AEZ Q8TF17/Y169H MNMN Q8TF17/R529Q CMT4C Q8TF17/E657K CMT4C Q8TF17/R658C CMT4C Q9NP59/Y64N HFE4 Q9NP59/A77D HFE4 Q9NP59/G80V HFE4 Q9NP59/N144D HFE4 Q9NP59/N144H HFE4 Q9NP59/N144T HFE4 Q9NP59/D157G HFE4 Q9NP59/D181V HFE4 Q9NP59/Q182H HFE4 Q9NP59/G267D HFE4 Q9NP59/D270V HFE4 Q9NP59/G323V HFE4 Q9UMX9/M42I OCA4 Q9UMX9/P58A OCA4 Q9UMX9/P58S OCA4 Q9UMX9/G64S OCA4 Q9UMX9/D157N OCA4 Q9UMX9/G188V OCA4 Q9UMX9/W202C OCA4 Q9UMX9/T302S OCA4 Q9UMX9/Y317C OCA4 Q9UMX9/R348C OCA4 Q9UMX9/L361P OCA4 Q9UMX9/A477T OCA4 Q9UMX9/A486V OCA4 Q8NBS3/R125H CHED2 Q8NBS3/E143K CHED2 Q8NBS3/A160T CHED2 Q8NBS3/E167D FECD4 Q8NBS3/R209W CHED2 Q8NBS3/S213L CHED2 Q8NBS3/S213P CDPD Q8NBS3/R233C CHED2 Q8NBS3/A269V CHED2 Q8NBS3/R282P FECD4 Q8NBS3/C386R CHED2 Q8NBS3/G394R CHED2 Q8NBS3/E399K FECD4 Q8NBS3/T401K CHED2 Q8NBS3/G418D CHED2 Q8NBS3/G464D CHED2 Q8NBS3/L473R CHED2 Q8NBS3/R488K CDPD Q8NBS3/S489L CHED2 Q8NBS3/Y526C FECD4 Q8NBS3/V575M FECD4 Q8NBS3/G583D FECD4 Q8NBS3/T584K CHED2 Q8NBS3/G709E FECD4 Q8NBS3/G742R FECD4 Q8NBS3/T754M FECD4 Q8NBS3/R755Q CHED2 Q8NBS3/R755W CHED2 Q8NBS3/P773L CHED2 Q8NBS3/R804H CHED2 Q8NBS3/V824M CHED2 Q8NBS3/T833M CHED2 Q8NBS3/G834S FECD4 Q8NBS3/L843P CDPD Q8NBS3/M856V CDPD Q8NBS3/R869C CHED2 Q8NBS3/R869H CHED2 Q8NBS3/L873P CHED2 Q9HAB3/G306R BVVLS2 Q9NQ40/E36K BVVLS1 Q9NQ40/R132W BVVLS1 Q9NQ40/F224L BVVLS1 Q9NQ40/V413A BVVLS1 Q9NQ40/F457L BVVLS1 P31213/L55Q PPSH P31213/G85D PPSH P31213/G115D PPSH P31213/G123R PPSH P31213/Q126R PPSH P31213/R145W PPSH P31213/G158R PPSH P31213/P181L PPSH P31213/G183S PPSH P31213/G196S PPSH P31213/E197D PPSH P31213/E200K PPSH P31213/A207D PPSH P31213/P212R PPSH P31213/A228T PPSH P31213/H231R PPSH P31213/Y235F PPSH P31213/S245Y PPSH P31213/R246Q PPSH P31213/R246W PPSH Q695T7/R57C HND Q695T7/D173N HND Q695T7/L242P HND Q695T7/E501K HND Q9NZJ4/D168Y SACS Q9NZJ4/T201K SACS Q9NZJ4/L308F SACS Q9NZJ4/L556P SACS Q9NZJ4/L802P SACS Q9NZJ4/C991R SACS Q9NZJ4/F1054S SACS Q9NZJ4/M1311K SACS Q9NZJ4/R1575P SACS Q9NZJ4/H1587R SACS Q9NZJ4/W1946R SACS Q9NZJ4/R2703C SACS Q9NZJ4/P2798Q SACS Q9NZJ4/W3248R SACS Q9NZJ4/L3481P SACS Q9NZJ4/R3636Q SACS Q9NZJ4/L3645P SACS Q9NZJ4/P3652T SACS Q9NZJ4/F3653S SACS Q9NZJ4/A4074P SACS Q9NZJ4/R4331Q SACS Q9NZJ4/E4343K SACS Q9NZJ4/K4508T SACS Q9NZJ4/N4549D SACS P23526/R49C HMAHCHD P23526/D86G HMAHCHD P23526/A89V HMAHCHD P23526/Y143C HMAHCHD Q9UJQ4/H888R DRRS Q5K651/K1495E NC Q9Y3Z3/H123P AGS5 Q9Y3Z3/R143C AGS5 Q9Y3Z3/R143H AGS5 Q9Y3Z3/R145Q AGS5 Q9Y3Z3/I201N AGS5 and CHBL2 Q9Y3Z3/G209S AGS5 Q9Y3Z3/M254V AGS5 Q9Y3Z3/L369S AGS5 Q9Y3Z3/M385V AGS5 P17900/C138R GM2GAB P17900/R169P GM2GAB Q53Y86/N215H MLD-SAPB Q53Y86/N215K MLD-SAPB Q53Y86/T217I MLD-SAPB Q53Y86/C241S MLD-SAPB Q53Y86/L349P AGD Q53Y86/C388F AGD Q9Y6B6/G11D CMRD Q9Y6B6/G37R CMRD Q9Y6B6/D75G CMRD Q9Y6B6/D137N CMRD Q9Y6B6/S179R CMRD Q9UL12/V71F SARCOS Q9UL12/P287L SARCOS Q15020/V591M DSAP1 Q9Y3A5/N8K SDS Q9Y3A5/E44G SDS Q9Y3A5/K67E SDS Q9Y3A5/I87S SDS Q9Y3A5/R126T SDS Q9Y3A5/R169C SDS Q9Y3A5/I212T SDS Q15436/F382L CLSD Q15437/R14W CDA2 Q15437/E109K CDA2 Q15437/D348A CDA2 Q15437/R497C CDA2 Q15437/R530W CDA2 Q15437/S603L CDA2 Q15437/R701C CDA2 P13866/D28G GGM P13866/D28N GGM P13866/R135W GGM P13866/G318R GGM P13866/A468V GGM P31639/N654S GLYS1 Q92911/G93R TDH1 Q92911/Q267E TDH1 Q92911/T354P TDH1 Q92911/G395R TDH1 Q92911/G543E TDH1 O75845/R29Q LATHST O75845/Y46S LATHST O75845/G211D LATHST P23975/A457P OI Q01959/L368Q PKDYS Q01959/P395L PKDYS Q9Y345/L306V HKPX3 Q9Y345/T425M HKPX3 Q9Y345/W482C HKPX3 Q9Y345/Y491C HKPX3 Q9Y345/N509S HKPX3 Q9Y345/S510R HKPX3 P48029/G87R CCDS1 P48029/G132V CCDS1 P48029/C337W CCDS1 P48029/G381R CCDS1 P48029/P390L CCDS1 P48029/C491W CCDS1 P48029/P554L CCDS1 P21583/N36S FPH P35498/R27T GEFS+2 P35498/F63L SMEI P35498/S74P GEFS+2 P35498/E78D SMEI P35498/D79H SMEI P35498/Y84C SMEI P35498/F90S SMEI P35498/I91T SMEI P35498/R101Q SMEI P35498/R101W SMEI P35498/S103G SMEI P35498/T112I SMEI P35498/R118S SMEI P35498/I124N SMEI P35498/M145T FEB3A P35498/T162P SMEI P35498/I171K SMEI P35498/A175T SMEI P35498/G177E SMEI P35498/D188V GEFS+2 P35498/W190R SMEI P35498/N191Y SMEI P35498/D194N SMEI P35498/T199R SMEI P35498/T217K SMEI P35498/T226M SMEI P35498/I227S SMEI P35498/A239T SMEI P35498/A239V SMEI P35498/I252N SMEI P35498/S259R SMEI P35498/G265W SMEI P35498/W280R SMEI P35498/T297I SMEI P35498/R322I SMEI P35498/G343D SMEI P35498/R356G SMEI P35498/P358T SMEI P35498/D366E SMEI P35498/R377Q GEFS+2 P35498/F383L SMEI P35498/Y388H GEFS+2 P35498/R393C SMEI P35498/R393H SMEI P35498/R393S SMEI P35498/F403L SMEI P35498/V406F SMEI P35498/Y413N SMEI P35498/Y426N SMEI P35498/R604H SMEI P35498/L783P SMEI P35498/Y790C GEFS+2 P35498/T808S ICEGTC P35498/T812R SMEI P35498/E846K SMEI P35498/R859C GEFS+2 P35498/R862Q SMEI P35498/T875K SMEI P35498/T875M GEFS+2 P35498/F902C SMEI P35498/R931C SMEI P35498/M934I SMEI P35498/H939Q SMEI P35498/H939Y SMEI P35498/L942P SMEI P35498/V944A SMEI P35498/V944E SMEI P35498/F945L SMEI P35498/R946C SMEI P35498/R946H SMEI P35498/R946S SMEI P35498/G950E SMEI P35498/W952G SMEI P35498/E954K SMEI P35498/W957L SMEI P35498/C959R SMEI P35498/M960V SMEI P35498/G979R ICEGTC P35498/V983A ICEGTC P35498/N985I SMEI P35498/L986F SMEI P35498/N1011I ICEGTC P35498/T1174S FHM3 P35498/W1204R GEFS+2 P35498/L1207P SMEI P35498/T1210K SMEI P35498/S1231R SMEI P35498/S1231T SMEI P35498/G1233R SMEI P35498/E1238D SMEI P35498/R1245Q SMEI P35498/T1260P SMEI P35498/F1263L SMEI P35498/L1265P SMEI P35498/K1270T GEFS+2 P35498/L1287P SMEI P35498/E1308D SMEI P35498/L1309F GEFS+2 P35498/A1326P SMEI P35498/V1335M SMEI P35498/V1353L GEFS+2 P35498/L1355P SMEI P35498/W1358S SMEI P35498/V1366I GEFS+2 and ICEGTC P35498/N1367K SMEI P35498/V1390M SMEI P35498/C1396G SMEI P35498/N1414Y SMEI P35498/Y1422C SMEI P35498/L1426R SMEI P35498/V1428A GEFS+2 P35498/G1433E SMEI P35498/G1433R SMEI P35498/W1434R SMEI P35498/A1441P SMEI P35498/Q1450K SMEI P35498/Q1450R SMEI P35498/P1451L SMEI P35498/L1461I SMEI P35498/Y1462C SMEI P35498/F1463S SMEI P35498/G1470W SMEI P35498/L1475S SMEI P35498/Q1489H FHM3 P35498/Q1489K FHM3 P35498/F1499L FHM3 P35498/L1514S SMEI P35498/I1545V SMEI P35498/G1586E SMEI P35498/C1588R SMEI P35498/D1608Y SMEI P35498/V1611F ICEGTC P35498/V1612I SMEI P35498/V1630M SMEI P35498/P1632S ICEGTC P35498/R1645Q SMEI P35498/R1648C SMEI P35498/R1648H GEFS+2 and SMEI P35498/L1649Q FHM3 P35498/I1656M GEFS+2 P35498/R1657C GEFS+2 P35498/T1658M SMEI P35498/T1658R SMEI P35498/F1661S SMEI P35498/M1664K SMEI P35498/P1668A SMEI P35498/G1674R SMEI P35498/A1685D SMEI P35498/A1685V GEFS+2 P35498/F1687S GEFS+2 P35498/F1692S SMEI P35498/Y1694C SMEI P35498/F1707V SMEI P35498/T1709I ICEGTC P35498/S1713N SMEI P35498/M1714R SMEI P35498/C1716R SMEI P35498/T1721R SMEI P35498/W1726R SMEI P35498/D1742G GEFS+2 P35498/G1749E SMEI P35498/C1756G SMEI P35498/G1762E SMEI P35498/S1773F SMEI P35498/M1780T SMEI P35498/Y1781C SMEI P35498/I1782M SMEI P35498/A1783T SMEI P35498/A1783V SMEI P35498/E1787K SMEI P35498/E1795K GEFS+2 P35498/F1808L ICEGTC P35498/WEKF1812C SMEI P35498/W1812G SMEI P35498/F1831S SMEI P35498/M1852T GEFS+2 P35498/V1857L GEFS+2 P35498/D1866Y GEFS+2 P35498/E1881D SMEI P35498/T1909I SMEI P35498/I1922T SMEI Q07699/C121W GEFS+1 Q07699/R125L GEFS+1 Q99250/E169G EIEE11 Q99250/R188W BFIS3 Q99250/N212D EIEE11 Q99250/V213D EIEE11 Q99250/R223Q BFIS3 Q99250/T236S EIEE11 Q99250/M252V BFIS3 Q99250/V261M BFIS3 Q99250/A263T EIEE11 Q99250/A263V EIEE11 Q99250/R853Q EIEE11 Q99250/N876T EIEE11 Q99250/V892I BFIS3 Q99250/E999K EIEE11 Q99250/L1003I BFIS3 Q99250/E1211K EIEE11 Q99250/R1319Q BFIS3 Q99250/M1323V EIEE11 Q99250/V1326L EIEE11 Q99250/L1330F BFIS3 Q99250/S1336Y EIEE11 Q99250/M1338T EIEE11 Q99250/I1473M EIEE11 Q99250/L1563V BFIS3 Q99250/T1623N EIEE11 Q99250/R1629L EIEE11 Q9NY72/L10P BRGDA7 P35499/I141V MYOSCN4A P35499/R222W HOKPP2 P35499/R225W MYOSCN4A P35499/Q270K PMC P35499/V445M MYOSCN4A P35499/E452K MYOSCN4A P35499/R669H HOKPP2 P35499/F671S MYOSCN4A P35499/R672C HOKPP2 P35499/R672G HOKPP2 P35499/R672H HOKPP2 P35499/R672S HOKPP2 P35499/R675G NKPP P35499/R675Q NKPP P35499/R675W NKPP P35499/I693T PMC P35499/T704M HYPP and PMC P35499/A715T MYOSCN4A P35499/V781I HYPP and NKPP P35499/S804F PMC P35499/S804N MYOSCN4A P35499/R1129Q NKPP and HOKPP2 P35499/R1132Q HOKPP2 P35499/R1135H HOKPP2 P35499/A1152D PMC P35499/A1156T PMC, MYOSCN4A and HYPP P35499/P1158S HOKPP2 P35499/I1160V MYOSCN4A P35499/V1293I PMC P35499/N1297K MYOSCN4A P35499/G1306A PMC P35499/G1306E MYOSCN4A and PMC P35499/G1306V MYOSCN4A and PMC P35499/I1310N MYOSCN4A P35499/T1313M PMC P35499/L1433R PMC and HYPP P35499/L1436P PMC P35499/V1442E CMSAR P35499/R1448C PMC P35499/R1448H PMC P35499/R1448L PMC P35499/G1456E PMC P35499/F1473S PMC P35499/M1476I MYOSCN4A P35499/A1481D MYOSCN4A P35499/V1589M PMC P35499/M1592V HYPP and NKPP P35499/F1705I PMC Q8IWT1/L179F LQT10 E9PFW7/G9V LQT3 E9PFW7/R18W LQT3 E9PFW7/R27H BRGDA1 E9PFW7/R43Q LQT3 E9PFW7/V95I BRGDA1 E9PFW7/V125L LQT3 E9PFW7/K126E BRGDA1 E9PFW7/M138I ATFB10 E9PFW7/E161K BRGDA1 and PFHB1A E9PFW7/T187I BRGDA1 E9PFW7/L212P PFHB1A E9PFW7/T220I SSS1 E9PFW7/R225Q LQT3 E9PFW7/R225W PFHB1A E9PFW7/A226V BRGDA1 E9PFW7/I230V BRGDA1 E9PFW7/Q245K LQT3 E9PFW7/R282H BRGDA1 E9PFW7/V294M BRGDA1 E9PFW7/G298S PFHB1A E9PFW7/G319S BRGDA1 E9PFW7/L325R BRGDA1 E9PFW7/P336L BRGDA1 E9PFW7/G351V BRGDA1 E9PFW7/T353I BRGDA1 E9PFW7/D356N BRGDA1 E9PFW7/R367C BRGDA1 E9PFW7/R367H BRGDA1 E9PFW7/M369K BRGDA1 E9PFW7/L404Q LQT3 E9PFW7/N406K LQT3 E9PFW7/N406S BRGDA1 E9PFW7/V411M LQT3 E9PFW7/E428K ATFB10 E9PFW7/H445D ATFB10 E9PFW7/E462K LQT3 E9PFW7/N470K ATFB10 E9PFW7/T512I PFHB1A E9PFW7/G514C BRGDA1 and PFHB1A E9PFW7/F532C SIDS E9PFW7/L567Q BRGDA1 E9PFW7/A572D LQT3 and ATFB10 E9PFW7/G615E LQT3 E9PFW7/L619F LQT3 E9PFW7/P637L LQT3 E9PFW7/G639R LQT3 E9PFW7/P648L LQT3 E9PFW7/E655K ATFB10 E9PFW7/R680H LQT3 E9PFW7/H681P BRGDA1 E9PFW7/A735E BRGDA1 E9PFW7/A735V BRGDA1 and SSS1 E9PFW7/G752R BRGDA1 and PFHB1A E9PFW7/R814Q BRGDA1 E9PFW7/F851L BRGDA1 E9PFW7/R878C BRGDA1 E9PFW7/F892I BRGDA1 E9PFW7/C896S BRGDA1 E9PFW7/S910L BRGDA1 E9PFW7/S941N LQT3 E9PFW7/R965C BRGDA1 E9PFW7/R971C LQT3 E9PFW7/A997S LQT3 E9PFW7/R1023H BRGDA1 E9PFW7/E1053K BRGDA1 and ATFB10 E9PFW7/T1069M LQT3 E9PFW7/G1084S SIDS E9PFW7/D1114N LQT3 E9PFW7/T1131I ATFB10 E9PFW7/R1193Q BRGDA1 and LQT3 E9PFW7/E1225K BRGDA1 and LQT3 E9PFW7/E1231K LQT3 E9PFW7/R1232W BRGDA1 and PFHB1A E9PFW7/K1236N BRGDA1 E9PFW7/E1240Q BRGDA1 E9PFW7/F1250L LQT3 E9PFW7/G1262S BRGDA1 E9PFW7/D1275N CMD1E, BRGDA1, PFHB1A and FAS E9PFW7/F1293S BRGDA1 E9PFW7/E1295K LQT3 E9PFW7/P1298L SSS1 E9PFW7/T1304M LQT3 E9PFW7/G1319V BRGDA1 E9PFW7/N1325S LQT3 E9PFW7/A1330P LQT3 E9PFW7/A1330T LQT3 E9PFW7/P1332L LQT3 E9PFW7/S1333Y LQT3 and SIDS E9PFW7/F1344S BRGDA1 E9PFW7/S1382I BRGDA1 E9PFW7/V1405L BRGDA1 E9PFW7/G1406R BRGDA1 E9PFW7/G1408R SSS1 and BRGDA1 E9PFW7/R1432G BRGDA1 E9PFW7/P1438L BRGDA1 E9PFW7/S1458Y LQT3 E9PFW7/F1473C LQT3 E9PFW7/G1481E LQT3 E9PFW7/F1486L LQT3 E9PFW7/Y1494N BRGDA1 E9PFW7/L1501V LQT3 E9PFW7/G1502S BRGDA1 E9PFW7/R1512W BRGDA1 E9PFW7/K1527R BRGDA1 E9PFW7/A1569P BRGDA1 E9PFW7/D1595N PFHB1A E9PFW7/S1609W LQT3 E9PFW7/T1620K LQT3 and PFHB1A E9PFW7/T1620M BRGDA1 E9PFW7/R1623L LQT3 E9PFW7/R1623Q LQT3 E9PFW7/R1626P LQT3 E9PFW7/R1644C LQT3 and BRGDA1 E9PFW7/R1644H LQT3 E9PFW7/T1645M LQT3 E9PFW7/A1649V BRGDA1 E9PFW7/M1652R LQT3 E9PFW7/I1660V BRGDA1 E9PFW7/V1667I LQT3 E9PFW7/F1705S SIDS E9PFW7/S1710L VF1 E9PFW7/D1714G BRGDA1 E9PFW7/G1740R BRGDA1 E9PFW7/G1743E BRGDA1 E9PFW7/G1743R BRGDA1 E9PFW7/V1763M LQT3 E9PFW7/M1766L LQT3 E9PFW7/I1768V LQT3 E9PFW7/V1777M LQT3 E9PFW7/T1779M LQT3 E9PFW7/E1784K LQT3 and BRGDA1 E9PFW7/S1787N LQT3 E9PFW7/D1790G LQT3 E9PFW7/D1792N SSS1 E9PFW7/Y1795C LQT3 E9PFW7/Y1795H BRGDA1 E9PFW7/Y1795YD LQT3 and BRGDA1 E9PFW7/D1819N LQT3 E9PFW7/L1825P LQT3 E9PFW7/R1826C ATFB10 E9PFW7/R1826H LQT3 E9PFW7/D1839G LQT3 E9PFW7/C1850S BRGDA1 E9PFW7/S1904L LQT3 E9PFW7/Q1909R LQT3 E9PFW7/A1924T BRGDA1 E9PFW7/G1935S BRGDA1 E9PFW7/A1949S LQT3 E9PFW7/V1951L BRGDA1 and LQT3 E9PFW7/V1951M ATFB10 E9PFW7/R1958Q LQT3 E9PFW7/I1968S BRGDA1 E9PFW7/N1987K ATFB10 E9PFW7/F2004L LQT3 and BRGDA1 E9PFW7/P2006A LQT3 Q9UQD0/N1768D EIEE13 Q8WWN4/Q10R PERYTHM Q8WWN4/I62V FEB3B Q8WWN4/P149Q FEB3B Q8WWN4/F216S PERYTHM Q8WWN4/S241T PERYTHM Q8WWN4/N395K PERYTHM Q8WWN4/E406K PERYTHM Q8WWN4/N641Y GEFS+7 Q8WWN4/K666R GEFS+7 Q8WWN4/I859T PERYTHM Q8WWN4/L869F PERYTHM Q8WWN4/L869H PERYTHM Q8WWN4/R907Q CIPAR Q8WWN4/R1007C PEPD Q8WWN4/V1309D PEPD Q8WWN4/V1309F PEPD Q8WWN4/V1310F PEPD Q8WWN4/F1460V PERYTHM Q8WWN4/I1472T PEPD Q8WWN4/F1473V PEPD Q8WWN4/T1475I PEPD Q8WWN4/M1638K PEPD P37088/F61L BESC2 P37088/V114I BESC2 P37088/G327C PHA1B P37088/S562L PHA1B P51168/G37S PHA1B P51168/S82C BESC1 P51168/P267L BESC1 P51168/N288S BESC1 P51168/G294S BESC1 P51168/V348M BESC1 P51168/P369T BESC1 P51168/E539K BESC1 P51168/P616L LIDDS P51168/P616S LIDDS P51168/P617S LIDDS P51168/P618R LIDDS P51168/Y620H LIDDS O75880/P174L MT-C4D O43819/R114H MYP6 O43819/C133Y CEMCOX1 O43819/E140K CEMCOX1 and MYP6 O43819/R171W CEMCOX1 O43819/S225F CEMCOX1 O43819/A259V MYP6 P55809/V133E SCOTD P55809/A215V SCOTD P55809/G219E SCOTD P55809/V221M SCOTD P55809/S226N SCOTD P55809/G324E SCOTD P55809/L327P SCOTD P55809/V404F SCOTD P55809/S405P SCOTD P55809/C456F SCOTD P55809/R468C SCOTD Q14108/H363N EPM4 Q14160/P454S NTD Q14160/R1535Q NTD A6NFY7/R55P MT-C2D A6NFY7/G57R MT-C2D Q9NX18/G78R PGL2 Q96T21/R540Q ATHYHM Q9NZV5/G273E RSMD1 Q9NZV5/H293R RSMD1 Q9NZV5/G315S RSMD1 Q9NZV5/N340I RSMD1 Q9NZV5/W453S RSMD1 Q9NZV5/U462G RSMD1 Q9NZV5/G463V RSMD1 Q9NZV5/R466Q RSMD1 Q9NZV5/R469Q RSMD1 Q9NZV5/R469W RSMD1 Q14563/R66W HH16 Q14563/N153S HH16 Q14563/I400V HH16 Q14563/V435I HH16 Q14563/T688A HH16 Q14563/R730Q HH16 Q14563/R733H HH16 Q9H3S1/D345H RP35 and CORD10 Q9H3S1/F350C RP35 and CORD10 Q9H3S1/R713Q RP35 Q8NCE0/Y309C PCH2B Q9BSV6/R58W PCH2C Q7Z6J9/S93P PCH4 Q7Z6J9/A307S PCH2A and PCH4 Q8IYM1/T89M SPGF10 Q8IYM1/D197N SPGF10 Q96QF4/R106W HNA Q96QF4/S111F HNA O43175/R135W PHGDH deficiency O43175/V261M PHGDH deficiency O43175/A373T PHGDH deficiency O43175/G377S PHGDH deficiency O43175/V425M PHGDH deficiency O43175/V490M PHGDH deficiency P78330/D32N PSPHD P78330/M52T PSPHD Q9Y617/D100A PSATD P50454/L78P OI10 Q9Y6X0/S854A AML Q9Y6X0/E858K ACML Q9Y6X0/D868A SGMFS Q9Y6X0/D868N SGMFS, ACML, JMML and MDS Q9Y6X0/S869N MDS and myeloid malignancies Q9Y6X0/G870D SGMFS Q9Y6X0/G870R AML Q9Y6X0/G870S SGMFS, ACML, MDS and AML Q9Y6X0/I871S AML Q9Y6X0/I871T SGMFS and ACML Q9Y6X0/T873R MDS and myeloid malignancies Q6ZN53/N1733D RCC cell line Q6ZN53/S1769P RCC cell line Q68DW5/T3I ALS4 Q68DW5/M274I SCAR1 Q68DW5/W305C SCAR1 Q68DW5/R332W SCAR1 Q68DW5/L389S ALS4 Q68DW5/P413L SCAR1 Q68DW5/N603D SCAR1 Q68DW5/Q653K SCAR1 Q68DW5/R1294C SCAR1 Q68DW5/F1756S SCAR1 Q68DW5/R2136H ALS4 Q68DW5/P2213L SCAR1 Q68DW5/P2368R SCAR1 E3VLC9/F198S IPF E3VLC9/G231V IPF Q9H5K3/L137R MDDGA12 Q9H5K3/Q258R MDDGA12 Q16586/P30L LGMD2D Q16586/L31P LGMD2D Q16586/R34C LGMD2D Q16586/R34H LGMD2D Q16586/Y62H LGMD2D Q16586/G68E LGMD2D Q16586/R74W LGMD2D Q16586/R77C LGMD2D Q16586/L89P LGMD2D Q16586/G91R LGMD2D Q16586/A93V LGMD2D Q16586/D97G LGMD2D Q16586/R98C LGMD2D Q16586/R98H LGMD2D Q16586/I103T LGMD2D Q16586/I124T LGMD2D Q16586/A136APGAQP LGMD2D Q16586/E137G LGMD2D Q16586/E137K LGMD2D Q16586/L158F LGMD2D Q16586/L173P LGMD2D Q16586/V175A LGMD2D Q16586/V196I LGMD2D Q16586/P205H LGMD2D Q16586/P228Q LGMD2D Q16586/V242A LGMD2D Q16586/V247M LGMD2D Q16586/R284C LGMD2D Q16585/Q11E DMD-like Q16585/R91C LGMD2E Q16585/R91L LGMD2E Q16585/R91P LGMD2E Q16585/M100K LGMD2E Q16585/L108R LGMD2E Q16585/S114F LGMD2E or DMD-like Q16585/I119F LGMD2E Q16585/G139D DMD-like Q16585/T151R LGMD2E Q16585/G167S LGMD2E Q16585/T182A DMD-like Q16585/Y184C DMD-like Q92629/S150A CMD1L Q92629/E261K LGMD2F O43556/T36R DYT11 O43556/H60P DYT11 O43556/H60R DYT11 O43556/M92T DYT11 O43556/W100G DYT11 O43556/G112R DYT11 O43556/Y115C DYT11 O43556/L175S DYT11 O43556/S177C DYT11 O43556/L184P DYT11 O43556/L196R DYT11 O43556/W270R DYT11 O43556/C271Y DYT11 Q13326/G69D LGMD2C Q13326/G69R LGMD2C Q13326/C283Y LGMD2C Q7Z653/E102Q ALS16 O60880/Y7C XLP1 O60880/H8D XLP1 O60880/G16D XLP1 O60880/G27S XLP1 O60880/S28R XLP1 O60880/L31P XLP1 O60880/R32T XLP1 O60880/D33Y XLP1 O60880/C42W XLP1 O60880/G49V XLP1 O60880/T53I XLP1 O60880/Y54C XLP1 O60880/R55L XLP1 O60880/T68I XLP1 O60880/I84T XLP1 O60880/F87S XLP1 O60880/Q99P XLP1 O60880/P101L XLP1 O60880/V102G XLP1 Q9BYB0/R537W SCZD15 Q15465/R6T HPE3 Q15465/L17P HPE3 Q15465/P26L HPE3 Q15465/G27A HPE3 Q15465/G31R HPE3 Q15465/L39P HPE3 Q15465/E53K HPE3 Q15465/D83V HPE3 Q15465/I84F HPE3 Q15465/D88V HPE3 Q15465/Q100H HPE3 Q15465/C102R HPE3 Q15465/C102Y HPE3 Q15465/L109F HPE3 Q15465/A110D HPE3 Q15465/A110T HPE3 Q15465/I111F SMMCI Q15465/I111N HPE3 Q15465/N115K HPE3 Q15465/W117G HPE3 Q15465/W117R HPE3 Q15465/V124M HPE3 Q15465/E136K HPE3 Q15465/H140P HPE3 Q15465/H140Q HPE3 Q15465/G143D HPE3 Q15465/R144P HPE3 Q15465/D147N HPE3 Q15465/T150K HPE3 Q15465/T150R HPE3 Q15465/S156R HPE3 Q15465/F170C HPE3 Q15465/D171H HPE3 Q15465/C183F HPE3 Q15465/C183R HPE3 Q15465/C183Y HPE3 Q15465/S184L HPE3 Q15465/E188Q HPE3 Q15465/G196E HPE3 Q15465/G197V HPE3 Q15465/C198F HPE3 Q15465/C198S HPE3 Q15465/L218P HPE3 Q15465/D222N HPE3 Q15465/V224E HPE3 Q15465/A226T HPE3 Q15465/G231V HPE3 Q15465/R232G HPE3 Q15465/L234P HPE3 Q15465/S236N HPE3 Q15465/S236R HPE3 Q15465/F241L HPE3 Q15465/F241V HPE3 Q15465/I255N HPE3 Q15465/T267I HPE3 Q15465/L271P HPE3 Q15465/A275E HPE3 Q15465/S280W HPE3 Q15465/G290D HPE3 Q15465/G296A HPE3 Q15465/R310C HPE3 Q15465/R321S HPE3 Q15465/V332A HPE3 and SMMCI Q15465/A346V HPE3 Q15465/P347L HPE3 Q15465/P347Q HPE3 Q15465/P347R HPE3 Q15465/I354T HPE3 Q15465/S362L HPE3 Q15465/C363Y HPE3 Q15465/Y364C HPE3 Q15465/A373T HPE3 Q15465/H374R HPE3 Q15465/A376D HPE3 Q15465/F377S HPE3 Q15465/R381P HPE3 Q15465/L382P HPE3 Q15465/A383T HPE3 Q15465/A391T HPE3 Q15465/G411GG HPE3 Q15465/T416A HPE3 Q15465/P424A HPE3 Q15465/Y435N HPE3 Q15465/S436L HPE3 Q15465/G456R HPE3 O15357/R401W OPSMD O15357/P659S OPSMD O15357/W688C OPSMD O15357/F722I OPSMD Q9UQ13/S2G NSLH O15266/L132V LWD O15266/R153L LWD O15266/R168W LMD O15266/R173C LWD Q9ULL8/S1089L SDSX Q9HAT2/C196F AIS6 Q9HAT2/G212R AIS6 Q9HAT2/R230W AIS6 Q9HAT2/C266G AIS6 Q9HAT2/Q309P AIS6 Q9HAT2/Y349C AIS6 Q9HAT2/R393H AIS6 Q9HAT2/F404S AIS6 Q9HAT2/R479C AIS6 Q8IX54/A13D MRT12 Q8IX54/A320P EIEE15 Q8IX54/D370Y MRT12 Q15475/V17E BOS3 Q15475/H73P BOS3 Q15475/V106G BOS3 Q15475/R110Q BOS3 Q15475/R110W BOS3 Q15475/R112C BOS3 Q15475/W122R BOS3 Q15475/Y129C BOS3 Q15475/P249L BOR O95343/G69D HPE2 O95343/V92G HPE2 O95343/I105V HPE2 O95343/H173P HPE2 O95343/T202I HPE2 O95343/L226V HPE2 O95343/P231R HPE2 O95343/V250A HPE2 O95343/R257P HPE2 O95343/R257W HPE2 Q8N196/A158T BOR2 Q8N196/A296T BOR2 Q8N196/G365R BOR2 Q8N196/T552M BOR2 O95475/T165A MCOPCT2 Q15477/V341G THES2 Q07837/P122S CSNU Q07837/P128Q CSNU Q07837/Y151C CSNU Q07837/R181Q CSNU Q07837/T216M CSNU Q07837/N253K CSNU Q07837/E268K CSNU Q07837/T341A CSNU Q07837/R362C CSNU Q07837/R362H CSNU Q07837/R365W CSNU Q07837/G398R CSNU Q07837/R452W CSNU Q07837/Y461H CSNU Q07837/M467K CSNU Q07837/M467T CSNU Q07837/G481V CSNU Q07837/E482K CSNU Q07837/P508A CSNU Q07837/Q510R CSNU Q07837/Y582H CSNU Q07837/R584T CSNU Q07837/F599S CSNU Q07837/G600E CSNU Q07837/P615T CSNU Q07837/F648S CSNU Q07837/T652R CSNU Q07837/L678P CSNU P55000/W15R MDM P55000/R71H MDM P55000/C77R MDM P55000/G86R MDM P55000/C99Y MDM O14510/A112V LDS3 O14510/E239K LDS3 O14510/T261I LDS3 O14510/R279K LDS3 O14510/R287W LDS3 Q13485/E330G JPS Q13485/G352R JP/HHT and JPS Q13485/R361C JPS Q13485/G386D JP/HHT Q13485/I500M MYHRS Q13485/I500T MYHRS Q13485/I500V MYHRS O43541/P415L AOVD2 O43541/C484F AOVD2 O15198/K43E PPH2 Q9NZC9/A468P SIOD Q9NZC9/I548N SIOD Q9NZC9/S579L SIOD Q9NZC9/R586W SIOD Q9NZC9/R644W SIOD Q9NZC9/R645C SIOD Q9NZC9/K647Q SIOD Q9NZC9/K647T SIOD Q9NZC9/T705I SIOD Q9NZC9/R764Q SIOD Q9NZC9/R820H SIOD P38935/L17P HMN6 P38935/L192P HMN6 P38935/Q196R HMN6 P38935/H213R HMN6 P38935/P216L HMN6 P38935/T221A HMN6 P38935/C241R HMN6 P38935/L251P HMN6 P38935/E334K HMN6 P38935/L361P HMN6 P38935/L364P HMN6 P38935/E382K HMN6 P38935/W386R HMN6 P38935/L426P HMN6 P38935/H445P HMN6 P38935/L472P HMN6 P38935/T493I HMN6 P38935/E514K HMN6 P38935/D565N HMN6 P38935/L577P HMN6 P38935/V580I HMN6 P38935/R581S HMN6 P38935/N583I HMN6 P38935/G586C HMN6 P38935/R603C HMN6 P38935/R603H HMN6 P38935/R637C HMN6 P38935/T879K HMN6 P38935/D974E HMN6 Q14683/F133V CDLS2 Q14683/E141K CDLS2 Q14683/R196H CDLS2 Q14683/R398Q CDLS2 Q14683/E493A CDLS2 Q14683/R496C CDLS2 Q14683/R496H CDLS2 Q14683/R693G CDLS2 Q14683/R711Q CDLS2 Q14683/R711W CDLS2 Q14683/C781F CDLS2 Q14683/I784T CDLS2 Q14683/R790Q CDLS2 Q14683/R816G CDLS2 Q14683/R1049Q CDLS2 Q14683/Y1085C CDLS2 Q14683/F1122L CDLS2 Q14683/R1123W CDLS2 P51531/G752A NCBRS P51531/K755R NCBRS P51531/T756I NCBRS P51531/D851H NCBRS P51531/E852D NCBRS P51531/E852K NCBRS P51531/H854N NCBRS P51531/H854R NCBRS P51531/R855G NCBRS P51531/G881R NCBRS P51531/G881V NCBRS P51531/P883L NCBRS P51531/H939Y NCBRS P51531/L946F NCBRS P51531/L946S NCBRS P51531/R1105C NCBRS P51531/R1105P NCBRS P51531/L1135P NCBRS P51531/S1146R NCBRS P51531/D1158V NCBRS P51531/R1159G NCBRS P51531/R1159L NCBRS P51531/R1159Q NCBRS P51531/R1162H NCBRS P51531/A1188P NCBRS P51531/A1201V NCBRS P51531/G1202C NCBRS P51531/D1205G NCBRS P51531/R1213W NCBRS P51532/T859M MRD16 P51532/R885C MRD16 P51532/L921F MRD16 P51532/M1011T MRD16 P51532/R1157G MRD16 A6NHR9/Y353C FSHD2 A6NHR9/R479P FSHD2 A6NHR9/C492R FSHD2 A6NHR9/P690S FSHD2 A6NHR9/S868N FSHD2 A6NHR9/F1554S FSHD2 Q16637/A2G SMA2 and SMA3 Q16637/D30N SMA2 Q16637/D44V SMA3 Q16637/G95R SMA3 Q16637/A111G SMA2 Q16637/I116F SMA1 Q16637/Q136E SMA1 Q16637/P245L SMA3 Q16637/S262G SMA3 Q16637/S262I SMA3 Q16637/Y272C SMA1 Q16637/T274I SMA2 and SMA3 Q16637/G275S SMA3 Q16637/G279C SMA2 and SMA3 Q16637/G279V SMA1 Q9H4F8/R278C OAS Q9H4F8/T283N OAS Q9H4F8/R286H OAS Q16613/A129T DSPS Q12824/R377H MRD15 Q8TAD8/E366G PMRED Q13424/A257G LQT12 Q13424/A390V LQT12 Q9Y5X0/R16L OPTB8 Q9Y5X0/Y32S OPTB8 Q9Y5X0/R51P OPTB8 Q9Y5X0/R51Q OPTB8 Q92959/I85F PHOAR2 Q92959/R97H PHOAR2 Q92959/G181A PHOAR2 Q92959/G181D PHOAR2 Q92959/S204L PHOAR2 Q92959/G222R PHOAR2 Q92959/G255E PHOAR2 Q92959/G255R PHOAR2 Q92959/C420F PHOAR2 Q92959/Q556H PHOAR2 Q92959/F557S PHOAR2 Q92959/W565G PHOAR2 Q6NR85/A5S ALS1 Q6NR85/A5T ALS1 Q6NR85/A5V ALS1 Q6NR85/C7F ALS1 Q6NR85/V8E ALS1 Q6NR85/L9Q ALS1 Q6NR85/L9V ALS1 Q6NR85/G13R ALS1 Q6NR85/V15G ALS1 Q6NR85/V15M ALS1 Q6NR85/G17S ALS1 Q6NR85/F21C ALS1 Q6NR85/E22G ALS1 Q6NR85/E22K ALS1 Q6NR85/Q23L ALS1 Q6NR85/G38R ALS1 Q6NR85/L39R ALS1 Q6NR85/L39V ALS1 Q6NR85/G42D ALS1 Q6NR85/G42S ALS1 Q6NR85/H44R ALS1 Q6NR85/F46C ALS1 Q6NR85/H47R ALS1 Q6NR85/H49Q ALS1 Q6NR85/H49R ALS1 Q6NR85/E50K ALS1 Q6NR85/T55R ALS1 Q6NR85/N66S ALS1 Q6NR85/L68P ALS1 Q6NR85/L68R ALS1 Q6NR85/G73S ALS1 Q6NR85/D77Y ALS1 Q6NR85/H81A ALS1 Q6NR85/L85F ALS1 Q6NR85/L85V ALS1 Q6NR85/G86R ALS1 Q6NR85/N87S ALS1 Q6NR85/V88A ALS1 Q6NR85/A90T ALS1 Q6NR85/A90V ALS1 Q6NR85/D91A ALS1 Q6NR85/D91V ALS1 Q6NR85/G94A ALS1 Q6NR85/G94C ALS1 Q6NR85/G94D ALS1 Q6NR85/G94R ALS1 Q6NR85/G94V ALS1 Q6NR85/A96G ALS1 Q6NR85/V98M ALS1 Q6NR85/E101G ALS1 Q6NR85/E101K ALS1 Q6NR85/D102G ALS1 Q6NR85/D102N ALS1 Q6NR85/I105F ALS1 Q6NR85/S106L ALS1 Q6NR85/L107V ALS1 Q6NR85/G109V ALS1 Q6NR85/I113M ALS1 Q6NR85/I113T ALS1 Q6NR85/I114T ALS1 Q6NR85/G115A ALS1 Q6NR85/R116G ALS1 Q6NR85/V119L ALS1 Q6NR85/V119VFLQ ALS1 Q6NR85/D125G ALS1 Q6NR85/D125V ALS1 Q6NR85/D126H ALS1 Q6NR85/L127S ALS1 Q6NR85/S135N ALS1 Q6NR85/N140K ALS1 Q6NR85/L145F ALS1 Q6NR85/L145S ALS1 Q6NR85/A146T ALS1 Q6NR85/C147R ALS1 Q6NR85/G148R ALS1 Q6NR85/V149G ALS1 Q6NR85/V149I ALS1 Q6NR85/I150T ALS1 Q6NR85/I152T ALS1 P01241/T3A IGHD1B P01241/L16P IGHD1B P01241/D37N IGHD1B P01241/R42C IGHD1B P01241/T53I IGHD1B P01241/K67R IGHD1B P01241/N73D IGHD1B P01241/S97F IGHD1B P01241/E100K IGHD1B P01241/R103C KWKS P01241/Q117L IGHD1B P01241/S134C IGHD1B P01241/S134R IGHD1B P01241/D138G KWKS P01241/T201A IGHD1B P01241/R209H IGHD2 Q92673/Y141C AD Q92673/G511R AD Q92673/N924S AD Q92673/N1358S AD Q92673/G1681D AD Q07889/P102R NS4 Q07889/E108K NS4 Q07889/P112R NS4 Q07889/K170E NS4 Q07889/I252T NS4 Q07889/T266K NS4 Q07889/M269R NS4 Q07889/M269T NS4 Q07889/D309Y NS4 Q07889/Y337C NS4 Q07889/M422V NS4 Q07889/E424K NS4 Q07889/KNID427N NS4 Q07889/W432R NS4 Q07889/E433K NS4 Q07889/G434K NS4 Q07889/G434R NS4 Q07889/I437T NS4 Q07889/C441Y NS4 Q07889/Q477R NS4 Q07889/P478R NS4 Q07889/G482R NS4 Q07889/L490R NS4 Q07889/R497Q NS4 Q07889/S548R NS4 Q07889/T549K NS4 Q07889/L550P NS4 Q07889/R552G NS4 Q07889/R552K NS4 Q07889/R552M NS4 Q07889/R552S NS4 Q07889/R552T NS4 Q07889/LDVTM554K NS4 Q07889/F623I NS4 Q07889/Y702H NS4 Q07889/W729L NS4 Q07889/I733F NS4 Q07889/E846K NS4 Q07889/P894R NS4 Q9BQB4/V21L CDD Q9BQB4/V21M CDD Q9BQB4/C167R SOST1 P56693/R106W WS4C P56693/M112I WS2E and PCWH P56693/N131H PCWH P56693/S135T WS2E P56693/L145P WS4C P56693/K150N PCWH P56693/A157V WS4C P56693/R161H WS2E P56693/R161RLR WS4C P56693/Q174P PCWH P56693/P175A PCWH P56693/P175L PCWH P56693/P175R PCWH P56693/G321R PCWH Q9H6I2/Q17QTQ VUR3 Q9H6I2/G178C VUR3 Q9H6I2/Y259N VUR3 P35713/W95R HLTS P35713/A104P HLTS P41225/A248AAAAAAAA PHPX P41225/A248AAAAAAAAAAAA MRXGH P48436/A76E CMD1 P48436/P108L CMD1 P48436/F112L CMD1 P48436/F112S CMD1 P48436/M113T CMD1 P48436/M113V CMD1 P48436/A119V CMD1 P48436/W143R CMD1 P48436/R152P CMD1 P48436/F154L CMD1 P48436/A158T CMD1 P48436/H165Q CMD1 P48436/H165Y CMD1 P48436/P170L CMD1 P48436/P170R CMD1 P48436/K173E CMD1 Q96F70/M433V HeLa cells Q96F70/S471P HeLa cells Q9UBP0/L195V SPG4 Q9UBP0/P293L SPG4 Q9UBP0/I344K SPG4 Q9UBP0/Q347K SPG4 Q9UBP0/P361L SPG4 Q9UBP0/S362C SPG4 Q9UBP0/R364T SPG4 Q9UBP0/G370R SPG4 Q9UBP0/L378Q SPG4 Q9UBP0/L378R SPG4 Q9UBP0/L380H SPG4 Q9UBP0/F381C SPG4 Q9UBP0/N386K SPG4 Q9UBP0/N386S SPG4 Q9UBP0/K388R SPG4 Q9UBP0/M390V SPG4 Q9UBP0/L391P SPG4 Q9UBP0/S399L SPG4 Q9UBP0/I406V SPG4 Q9UBP0/S407R SPG4 Q9UBP0/A409T SPG4 Q9UBP0/S410R SPG4 Q9UBP0/S413L SPG4 Q9UBP0/R424G SPG4 Q9UBP0/L426F SPG4 Q9UBP0/L426V SPG4 Q9UBP0/P435L SPG4 Q9UBP0/S436F SPG4 Q9UBP0/S436P SPG4 Q9UBP0/D441G SPG4 Q9UBP0/D441N SPG4 Q9UBP0/C448Y SPG4 Q9UBP0/E454K SPG4 Q9UBP0/R459G SPG4 Q9UBP0/R460C SPG4 Q9UBP0/R460L SPG4 Q9UBP0/R460S SPG4 Q9UBP0/T463A SPG4 Q9UBP0/D470V SPG4 Q9UBP0/A485V SPG4 Q9UBP0/P489L SPG4 Q9UBP0/L492F SPG4 Q9UBP0/D493G SPG4 Q9UBP0/R498G SPG4 Q9UBP0/R499C SPG4 Q9UBP0/R499H SPG4 Q9UBP0/R503L SPG4 Q9UBP0/R503RR SPG4 Q9UBP0/R503W SPG4 Q9UBP0/E512D SPG4 Q9UBP0/R514G SPG4 Q9UBP0/L534P SPG4 Q9UBP0/A551Y SPG4 Q9UBP0/D555N SPG4 Q9UBP0/A556V SPG4 Q9UBP0/G559D SPG4 Q9UBP0/R562G SPG4 Q9UBP0/R562Q SPG4 Q9UBP0/I580T SPG4 Q9UBP0/D584H SPG4 Q9UBP0/W607C SPG4 Q9UBP0/T614I SPG4 Q9UBP0/T615I SPG4 Q9HD40/A239T PCH2D Q9HD40/Y334C PCH2D A1X283/R43W HS Q9UQ90/G349S SPG7 Q9UQ90/A510V SPG7 Q9UQ90/W583C SPG7 Q9UQ90/S692T SPG7 P51688/D32E MPS3A P51688/D32G MPS3A P51688/Y40N MPS3A P51688/N42K MPS3A P51688/A44T MPS3A P51688/S66W MPS3A P51688/R74C MPS3A P51688/R74H MPS3A P51688/T79P MPS3A P51688/H84Y MPS3A P51688/Q85R MPS3A P51688/M88T MPS3A P51688/G90R MPS3A P51688/S106R MPS3A P51688/G122R MPS3A P51688/P128L MPS3A P51688/V131M MPS3A P51688/T139M MPS3A P51688/L146P MPS3A P51688/R150Q MPS3A P51688/R150W MPS3A P51688/L163P MPS3A P51688/D179N MPS3A P51688/R182C MPS3A P51688/G191R MPS3A P51688/F193L MPS3A P51688/R206P MPS3A P51688/P227R MPS3A P51688/A234G MPS3A P51688/D235N MPS3A P51688/D235V MPS3A P51688/R245H MPS3A P51688/G251A MPS3A P51688/D273N MPS3A P51688/P288S MPS3A P51688/P293S MPS3A P51688/P293T MPS3A P51688/S298P MPS3A P51688/E300V MPS3A P51688/Q307P MPS3A P51688/T321A MPS3A P51688/I322S MPS3A P51688/A354P MPS3A P51688/E355K MPS3A P51688/S364R MPS3A P51688/E369K MPS3A P51688/Y374H MPS3A P51688/R377C MPS3A P51688/R377H MPS3A P51688/Q380R MPS3A P51688/H381HQR MPS3A P51688/L386R MPS3A P51688/N389K MPS3A P51688/YRAR432W MPS3A P51688/R433Q MPS3A P51688/R433W MPS3A P51688/E447K MPS3A P51688/V486F MPS3A O43291/Y163C DIAR3 Q7Z699/W31C NFLS Q7Z699/V44D NFLS P35270/R150G DRDSPRD P35270/P163L DRDSPRD Q0R2U2/R283Q SPGF6 P02549/I24S EL2 P02549/R28C EL2 P02549/R28H EL2 P02549/R28L EL2 P02549/R28S EL2 P02549/V31A EL2 P02549/R34W EL2 P02549/R41W EL2 P02549/R45S EL2 P02549/R45T EL2 P02549/G46V EL2 P02549/K48R HPP P02549/L49F EL2 P02549/G151D EL2 P02549/L154LL EL2 P02549/L207P EL2 and HPP P02549/L260P EL2 P02549/S261P EL2 P02549/H469P EL2 P02549/Q471P EL2 P02549/D791E EL2 P02549/A2025G Cagliari P11277/W202R HS P11277/A2018G EL3 P11277/S2019P EL3 P11277/A2023V EL3 P11277/W2024R EL3 P11277/L2025R EL3 P11277/A2053P EL3 O15269/C133W HSAN1A O15269/C133Y HSAN1A O15269/V144D HSAN1A O15269/S331F HSAN1A O15269/A352V HSAN1A O15270/A182P HSAN1C O15270/V359M HSAN1C O15270/G382V HSAN1C O15270/I504F HSAN1C Q8N270/F1349I SPG11 Q9P0V0/R2303RM EIEE5 O15020/L253P SCA5 O15020/LAAARR629W SCA5 Q9C004/T77M HH17 Q9C004/D82N HH17 Q9C004/K154R HH17 Q9C004/C186Y HH17 Q9C004/S218Y HH17 Q9C004/V258M HH17 Q9C004/V281I HH17 P21549/T9N HP1 P21549/G41R HP1 P21549/G41V HP1 P21549/G82E HP1 P21549/G82R HP1 P21549/E95EE HP1 P21549/W108R HP1 P21549/A112D HP1 P21549/G116R HP1 P21549/F152I HP1 P21549/L153V HP1 P21549/G156R HP1 P21549/S158L HP1 P21549/G161R HP1 P21549/G170R HP1 P21549/C173Y HP1 P21549/D183N HP1 P21549/S187F HP1 P21549/G190R HP1 P21549/M195R HP1 P21549/D201E HP1 P21549/S205P HP1 P21549/S218L HP1 P21549/R233C HP1 P21549/R233H HP1 P21549/R233L HP1 P21549/D243H HP1 P21549/I244T HP1 P21549/C253R HP1 P21549/I279M HP1 P21549/S287T HP1 P21549/R289C HP1 P21549/L298P HP1 P21549/V336D HP1 P21549/G350D HP1 Q13501/P387L PDB Q13501/P392L PDB Q13501/S399P PDB Q13501/M404T PDB Q13501/M404V PDB Q13501/G411S PDB Q13501/G425R PDB Q96JX3/G401D MEGDEL Q96JX3/G404E MEGDEL Q96JX3/S498T MEGDEL Q96GP6/C258Y VDEGS O76094/R207H BMFF O60687/Y72S RESDX O60687/N327S RESDX Q05066/S3L SRXY1 Q05066/S18N SRXY1 Q05066/V60A SRXY1 Q05066/V60L SRXY1 Q05066/R62G SRXY1 Q05066/M64I SRXY1 Q05066/M64R SRXY1 Q05066/F67V SRXY1 Q05066/I68T SRXY1 Q05066/R76S SRXY1 Q05066/M78T SRXY1 Q05066/N87Y SRXY1 Q05066/I90M SRXY1 Q05066/S91G SRXY1 Q05066/G95E SRXY1 Q05066/G95R SRXY1 Q05066/L101H SRXY1 Q05066/K106I SRXY1 Q05066/P108R SRXY1 Q05066/F109S SRXY1 Q05066/A113T SRXY1 Q05066/P125L SRXY1 Q05066/Y127C SRXY1 Q05066/Y127F SRXY1 Q05066/P131R SRXY1 Q05066/R133W SRXY1 P51649/C93F SSADHD P51649/G176R SSADHD P51649/C223Y SSADHD P51649/T233M SSADHD P51649/N255S SSADHD P51649/G268E SSADHD P51649/N335K SSADHD P51649/P382L SSADHD P51649/P382Q SSADHD P51649/G409D SSADHD P51649/V487E SSADHD P51649/G533R SSADHD Q9Y5Y6/G827R ARIH P51692/A630P GHII P51692/F646S GHII O95630/R14P MICCAP O95630/R38C MICCAP O95630/E42G MICCAP O95630/Y63C MICCAP O95630/F100Y MICCAP O95630/T313I MICCAP P49675/E169G AH1 P49675/E169K AH1 P49675/R182L AH1 P49675/R217T AH1 P49675/A218V AH1 P49675/M225T AH1 P49675/L275P AH1 Q9UDL5/D165G CANDF7 Q9UDL5/D165H CANDF7 Q9UDL5/Y170N CANDF7 Q9UDL5/C174R CANDF7 Q9UDL5/K201N STAT1D Q9UDL5/M202I CANDF7 Q9UDL5/M202V CANDF7 Q9UDL5/A267V CANDF7 Q9UDL5/Q271P CANDF7 Q9UDL5/R274Q CANDF7 Q9UDL5/R274W CANDF7 Q9UDL5/K286I CANDF7 Q9UDL5/T288A CANDF7 Q9UDL5/E320Q MSMD Q9UDL5/Q463H MSMD Q9UDL5/L600P STAT1D Q9UDL5/K637E MSMD Q9UDL5/K673R MSMD Q9UDL5/L706S MSMD P40763/R382L AD-HIES P40763/R382Q AD-HIES P40763/R382W AD-HIES P40763/F384L AD-HIES P40763/F384S AD-HIES P40763/T389I AD-HIES P40763/R423Q AD-HIES P40763/H437Y AD-HIES P40763/S611N AD-HIES P40763/F621V AD-HIES P40763/T622I AD-HIES P40763/V637L AD-HIES P40763/V637M AD-HIES P40763/Y657C AD-HIES Q13285/V15M SRXY3 Q13285/C33S SRXY3 Q13285/G35E SRXY3 Q13285/M78I SRXY3 Q13285/R84H SRXY3 Q13285/G91S SRXY3 Q13285/R92Q SRXY3 Q13285/G123A SPGF8 and POF7 Q13285/P129L SPGF8 and POF7 Q13285/P131L SPGF8 Q13285/R191C SPGF8 Q13285/G212S SPGF8 Q13285/D238N SPGF8 Q13285/R255L ACIWOD Q13285/D293N POF7 Q13285/L437Q SRXY3 Q13586/H72Q TAM Q13586/D84G TAM Q13586/H109N TAM Q13586/H109R TAM Q13586/R429C IDTICED2 O94804/K277E TGCT Q15831/E16G PJS Q15831/L67P PJS Q15831/DGL162NDM PJS Q15831/G163D TGCT Q15831/D194N PJS Q15831/W239C PJS Q15831/R297K PJS Q15831/IRQH303N PJS Q15831/P315S PJS Q5I947/R18P PEE4 Q5I947/Y153H PEE4 Q5I947/N825I PEE4 Q71RB9/P90L MCOPS9 Q71RB9/P293L MCOPS9 Q71RB9/G304K MCOPS9 Q71RB9/T321P MCOPS9 Q71RB9/T644M MCOPS9 Q71RB9/R655C MCOPS9 Q12768/I226T SPG8 Q12768/N471D SPG8 Q12768/L619F SPG8 Q12768/V626F SPG8 Q12768/G696A SPG8 P08842/S341L IXL P08842/W372R IXL P08842/W372S IXL P08842/G380R IXL P08842/H444R IXL P08842/C446Y IXL P08842/Q560P IXL P61764/V84D EIEE4 P61764/C180Y EIEE4 P61764/M443R EIEE4 P61764/G544D EIEE4 Q15833/L209P FHL5 Q15833/R292H FHL5 Q15833/R405Q FHL5 Q15833/R405W FHL5 Q15833/P477L FHL5 P53597/M14L MTDPS9 P53597/G85A MTDPS9 P53597/P170R MTDPS9 Q9P2R7/G118R MTDPS5 Q9P2R7/D251N MTDPS5 Q9P2R7/R284C MTDPS5 Q9HAC7/R336W GA3 Q06330/E63G AOS3 Q06330/K169E AOS3 P14410/Q117R CSID P14410/L341P CSID P14410/V577G CSID P14410/S594P CSID P14410/L620P CSID P14410/T694P CSID P14410/G1073D CSID P14410/Q1098P CSID P14410/C1229Y CSID P14410/R1367G CSID P14410/F1745C CSID Q53ZE4/L20F MSD Q53ZE4/S155P MSD Q53ZE4/A177P MSD Q53ZE4/W179S MSD Q53ZE4/C218Y MSD Q53ZE4/R224W MSD Q53ZE4/N259I MSD Q53ZE4/P266L MSD Q53ZE4/A279V MSD Q53ZE4/C336R MSD Q53ZE4/R345C MSD Q53ZE4/A348P MSD Q53ZE4/R349Q MSD Q53ZE4/R349W MSD P51687/R217Q ISOD P51687/I258L ISOD P51687/A265D ISOD P51687/R268Q ISOD P51687/G362S ISOD P51687/R366H ISOD P51687/K379R ISOD P51687/Q396R ISOD P51687/S427Y ISOD P51687/W450R ISOD P51687/G530D ISOD Q15526/L90P LS Q15526/G124E LS Q15526/G124R LS Q15526/V177G LS Q15526/G205E LS Q15526/W227R LS Q15526/M235T LS Q15526/I246T LS Q15526/A248D LS Q15526/G257R LS Q15526/Y274D LS P49588/N71Y CMT2N P49588/R329H CMT2N Q5JTZ9/L155R COXPD8 Q5JTZ9/R592W COXPD8 P14868/M256L HBSL P14868/A274V HBSL P14868/D367Y HBSL P14868/R460H HBSL P14868/P464L HBSL P14868/R487C HBSL P14868/R494C HBSL P14868/R494G HBSL Q6PI48/S45G LBSL Q6PI48/C152F LBSL Q6PI48/R179H LBSL Q6PI48/Q184K LBSL Q6PI48/Q248K LBSL Q6PI48/R263Q LBSL Q6PI48/D560V LBSL Q6PI48/L613F LBSL Q6PI48/L626Q LBSL Q6PI48/L626V LBSL Q6PI48/Y629C LBSL Q5JPH6/R55H COXPD12 Q5JPH6/K65E COXPD12 Q5JPH6/E96K COXPD12 Q5JPH6/R107H COXPD12 Q5JPH6/R108W COXPD12 Q5JPH6/G110S COXPD12 Q5JPH6/C167Y COXPD12 Q5JPH6/R168G COXPD12 Q5JPH6/G204S COXPD12 Q5JPH6/G224S COXPD12 Q5JPH6/G317C COXPD12 Q5JPH6/TR426L COXPD12 Q5JPH6/R516Q COXPD12 O95363/Y144C COXPD14 O95363/I329T COXPD14 O95363/D391V COXPD14 Q96PV0/W362R MRD5 Q96PV0/P562L MRD5 P41250/E125G CMT2D P41250/L183P HMN5A P41250/G294R CMT2D P41250/G580R HMN5A P12081/Y454S USH3B P49590/L200V PRLTS2 P49590/V368L PRLTS2 Q15046/L105H CMTRIB Q15046/I274M CMTRIB Q15031/T522N PRLTS4 Q15031/T629M PRLTS4 Q9UJ06/R8095H EDMD4 Q9UJ06/V8387L EDMD4 Q9UJ06/E8461K EDMD4 Q8WXH1/T6211M EDMD5 P08247/G217R MRXSYP Q9NP81/D390G HUPRA Q707N6/G439D SCAR11 P37840/A30P PARK1 P37840/E46K PARK1 and DLB P37840/A53T PARK1 P54577/G41R CMTDIC P54577/E196K CMTDIC Q9Y2Z4/G46D MLASA2 Q9Y2Z4/F52L MLASA2 P21731/R60L BDPLT13 Q9NYJ8/P208S CHTD2 Q9NYJ8/Q230K CHTD2 P40200/T280M CSYN Q96DJ0/D169G ALS10 Q96DJ0/N267S ALS10 Q96DJ0/G287S ALS10 Q96DJ0/G290A ALS10 Q96DJ0/G294A ALS10 Q96DJ0/G294V ALS10 Q96DJ0/G295R ALS10 Q96DJ0/G295S ALS10 Q96DJ0/G298S ALS10 Q96DJ0/A315T ALS10 Q96DJ0/Q331K ALS10 Q96DJ0/S332N ALS10 Q96DJ0/G335D ALS10 Q96DJ0/M337V ALS10 Q96DJ0/Q343R ALS10 Q96DJ0/G348C ALS10 Q96DJ0/G357R ALS10 Q96DJ0/R361S ALS10 Q96DJ0/R361T ALS10 Q96DJ0/S379C ALS10 Q96DJ0/S379P ALS10 Q96DJ0/A382T ALS10 Q96DJ0/N390D ALS10 Q96DJ0/N390S ALS10 Q96DJ0/S393L ALS10 Q5R3M6/G1019R DFNB28 Q5CZI7/R5H D Q5CZI7/R5L PSNP1 Q5CZI7/K574T PIDB Q5CZI7/L583V D Q5CZI7/G589V D Q5CZI7/N596K D Q5CZI7/N613H D Q5CZI7/P618L D Q5CZI7/P618S D and CBD Q5CZI7/G620V PSNP1 Q5CZI7/S622N D Q5CZI7/K634M D Q5CZI7/S637F PIDB Q5CZI7/V654M D Q5CZI7/E659V D Q5CZI7/K686I PIDB Q5CZI7/G706R PIDB Q5CZI7/R723W D/Alzheimer disease Q86XQ7/R94S BTHS Q86XQ7/C118R BTHS Q86XQ7/G197R BTHS Q86XQ7/G240R BTHS Q71U36/I188L LIS3 Q71U36/P263T LIS3 Q71U36/R264C LIS3 Q71U36/L286F LIS3 Q71U36/R402C LIS3 Q71U36/R402H LIS3 Q71U36/S419L LIS3 Q9H4B7/R318W MAD-TUBB1 Q9BVA1/S172P PMGYSA Q9BVA1/I210T PMGYSA Q9BVA1/L228P PMGYSA Q9BVA1/F265L PMGYSA Q9BVA1/T312M PMGYSA Q13509/R62Q CFEOM3A Q13509/T178M CDCBM1 Q13509/E205K CDCBM1 Q13509/R262C CFEOM3A Q13509/R262H CFEOM3A Q13509/A302T CFEOM3A Q13509/A302V CDCBM1 Q13509/M323V CDCBM1 Q13509/R380C CFEOM3A Q13509/E410K CFEOM3A Q13509/D417H CFEOM3A Q13509/D417N CFEOM3A P04350/R2G DYT4 P04350/D249N HLD Q9ULP9/D147H FIME Q9ULP9/F229S EIEE16 Q9ULP9/F251L FIME Q9ULP9/A515V FIME O60806/S128F IAD O43435/F148Y CTHM and VCFS O43435/H194Q VCFS O43435/G310S DGS Q9UMR3/I152M ASD4 Q9Y458/G118C CPX Q9Y458/M121V CPX Q9Y458/P183L CPX Q9Y458/S195SS CPX Q9Y458/L214P CPX Q9Y458/T260M CPX Q9Y458/N264Y CPX O15119/L143P UMS O15119/Y149S UMS P57082/G248V SPS P57082/Q531R SPS Q99593/Q49K HOS Q99593/I54T HOS Q99593/G80R HOS Q99593/R237Q HOS Q99593/R237W HOS Q8IUC6/S186L HSE4 Q13428/W53R TCS1 P48643/H147R HSNSP P28347/Y421H SCRA Q9NZ01/P182L MRT14 Q8NBQ0/G314R JBTS18 O75443/D197N DFNA12 O75443/F211S DFNA12 O75443/V317E DFNA12 O75443/S362C DFNA12 O75443/N465K DFNA12 O75443/T562M DFNA12 O75443/T815M DFNA12 O75443/N886S DFNA12 O75443/C1036Y DFNA12 O75443/C1057S DFNA12 O75443/A1098V DFNA12 O75443/D1136H DFNA12 O75443/P1248L DFNA12 O75443/C1509G DFNA12 O75443/C1517R DFNA12 O75443/C1619S DFNA12 O75443/P1791R DFNA12 O75443/L1820F DFNA12 O75443/G1824D DFNA12 O75443/C1837G DFNA12 O75443/C1837R DFNA12 O75443/T1866M DFNA12 O75443/H1867R DFNA12 O75443/Y1870C DFNA12 O75443/R1890C DFNA12 O75443/C1898R DFNA12 O75443/R1947C DFNA12 O75443/I2009T DFNA12 O75443/R2021H DFNA12 O15273/R70W CMD1N O15273/R87Q CMD1N O15273/P90L CMD1N O15273/E132Q CMD1N O15273/T137I CMH O15273/R153H CMH Q9UMG7/R29W EDS3 Q9UMG7/V1195M EDS3 P55072/R95G IBMPFD1 P55072/R155C IBMPFD1 P55072/R155H ALS14 and IBMPFD1 P55072/R155P IBMPFD1 P55072/R159G ALS14 P55072/R159H IBMPFD1 P55072/R191Q ALS14 and IBMPFD1 P55072/A232E IBMPFD1 P55072/D592N ALS14 O14746/V170M PFBM1 O14746/A202T PFBM1 and AA susceptibilty O14746/H412Y PFBM1 and DKCB4 O14746/K570N AA susceptibility O14746/R631Q AA susceptibility O14746/G682D AA susceptibility O14746/V694M PFBM1 O14746/P704S DKCB4 O14746/A716T PFBM1 O14746/P721R DKCB4 O14746/T726M AA susceptibility O14746/Y772C PFBM1 O14746/P785L AA susceptibility O14746/V791I PFBM1 O14746/R811C DKCB4 O14746/L841F PFBM1 O14746/R865H PFBM1 O14746/V867M PFBM1 O14746/R901W DKCB4 O14746/K902N DKCA2 O14746/K902R PFBM1 O14746/P923L PFBM1 O14746/R979W DKCA2 O14746/V1025F PFBM1 O14746/V1090M PFBM1 O14746/F1127L DKCA2 Q6ZYL4/L21P TTDP Q92734/P285L HMSNP Q9UP52/V22I HFE3 Q9UP52/M172K HFE3 Q9UP52/Q690P HFE3 P01137/Y81H CE P01137/R218C CE P01137/R218H CE P01137/H222D CE P01137/C223G CE P01137/C223R CE P01137/C225R CE P61812/R299W LDS4 P61812/R302C LDS4 P61812/P338H LDS4 P36897/C41Y MSSE P36897/N45S MSSE P36897/G52R MSSE P36897/P83L MSSE P36897/T200I LDS1A P36897/K232E LDS2A P36897/S241L LDS1A P36897/D266Y LDS1A P36897/M318R LDS1A P36897/D351G LDS1A P36897/T375I LDS1A P36897/D400G LDS1A P36897/R487P LDS1A and LDS2A P36897/R487Q LDS1A and LDS2A P36897/R487W LDS2A P37173/Q306HE LDS1B P37173/L308P LDS1B and LDS2B P37173/T315M HNPCC6 P37173/Y336N LDS1B P37173/A355P LDS1B P37173/G357W LDS1B P37173/H377R LDS1B P37173/D446N LDS1B P37173/S449F LDS1B and LDS2B P37173/M457K LDS1B P37173/R460C LDS2B P37173/R460H LDS2B P37173/G509V LDS1B P37173/I510F LDS1B P37173/I510S LDS2B P37173/C514R LDS1B P37173/W521R LDS1B P37173/R528C LDS1B P37173/R528H LDS1B P37173/R537C LDS2B Q15583/S157C HPE4 Q15583/P192R HPE4 Q15583/Q236L HPE4 Q15583/T280A HPE4 Q15583/S291F HPE4 P22735/S42Y ARCI1 P22735/C53S ARCI1 P22735/G94D ARCI1 P22735/D102V ARCI1 P22735/R126C ARCI1 P22735/R126H ARCI1 P22735/Y134C ARCI1 P22735/R142C ARCI1 P22735/R142H ARCI1 P22735/R142P ARCI1 P22735/R143C ARCI1 P22735/R143H ARCI1 P22735/G144E ARCI1 P22735/G144R ARCI1 P22735/S160C ARCI1 P22735/L205Q ARCI1 P22735/V209F ARCI1 P22735/G218S ARCI1 P22735/R225H ARCI1 P22735/R225P ARCI1 P22735/I243S ARCI1 P22735/P249L ARCI1 P22735/R264Q ARCI1 P22735/R264W ARCI1 P22735/S272P ARCI1 P22735/Y276N ARCI1 P22735/G278R ARCI1 P22735/E285K ARCI1 P22735/R286Q ARCI1 P22735/N289T ARCI1 P22735/F293V ARCI1 P22735/I304F ARCI1 P22735/R307G ARCI1 P22735/R307W ARCI1 P22735/R315C ARCI1 P22735/R315H ARCI1 P22735/R315L ARCI1 P22735/R323Q ARCI1 P22735/R323W ARCI1 P22735/N330H ARCI1 P22735/S331P ARCI1 P22735/W342R ARCI1 P22735/S358R ARCI1 P22735/V359M ARCI1 P22735/Y365D ARCI1 P22735/L366P ARCI1 P22735/V379L ARCI1 P22735/G382R ARCI1 P22735/V383M ARCI1 P22735/R389H ARCI1 P22735/R389P ARCI1 P22735/G392D ARCI1 P22735/R396H ARCI1 P22735/R396L ARCI1 P22735/R396S ARCI1 P22735/F401V ARCI1 P22735/D430V ARCI1 P22735/G473S ARCI1 P22735/D490G ARCI1 P22735/E520G ARCI1 P22735/Y544C ARCI1 P22735/R687C ARCI1 P22735/R687H ARCI1 P22735/R764C ARCI1 O95932/D327G SCA35 O95932/L517W SCA35 O43548/G113C APSS Q9NVV9/S6F DYT6 Q9NVV9/S6P DYT6 Q9NVV9/A7D DYT6 Q9NVV9/Y8C DYT6 Q9NVV9/G9C DYT6 Q9NVV9/N12K DYT6 Q9NVV9/R13H DYT6 Q9NVV9/K16E DYT6 Q9NVV9/D17G DYT6 Q9NVV9/S21C DYT6 Q9NVV9/S21T DYT6 Q9NVV9/H23P DYT6 Q9NVV9/K24E DYT6 Q9NVV9/P26L DYT6 Q9NVV9/P26R DYT6 Q9NVV9/R29P DYT6 Q9NVV9/R29Q DYT6 Q9NVV9/P30R DYT6 Q9NVV9/L32H DYT6 Q9NVV9/A39T DYT6 Q9NVV9/C54F DYT6 Q9NVV9/H57N DYT6 Q9NVV9/T59I DYT6 Q9NVV9/L72R DYT6 Q9NVV9/N75I DYT6 Q9NVV9/I80V DYT6 Q9NVV9/F81L DYT6 Q9NVV9/C83R DYT6 Q9NVV9/K89R DYT6 Q9NVV9/F132S DYT6 Q9NVV9/N136K DYT6 Q9NVV9/N136S DYT6 Q9NVV9/Y137C DYT6 Q9NVV9/M143V DYT6 Q9NVV9/I149T DYT6 Q9NVV9/H150P DYT6 Q9NVV9/A166T DYT6 Q9NVV9/R169Q DYT6 Q9NVV9/C170R DYT6 Q9NVV9/E174G DYT6 Q9NVV9/L180S DYT6 Q9NVV9/Q187K DYT6 Q9NVV9/D192N DYT6 Q9HD78/L82P GHDD Q9HD78/R412Q GHDD Q9HD78/G481W GHDD Q9HD78/L487P GHDD P05543/S43T TBG deficiency P05543/I116N TBG deficiency P05543/A133P TBG deficiency P05543/D191N TBG-S/Slow P05543/A211T TBG-A/Aborigine P05543/L247P TBG deficiency P05543/H351Y TBG deficiency P05543/P383L TBG deficiency P10828/A234T GTHR P10828/R243W GTHR P10828/A268G GTHR P10828/R316H PRTH P10828/A317T GTHR P10828/R320C GTHR P10828/R320H GTHR P10828/N331D GTHR P10828/G332R GTHR P10828/A335P GTHR P10828/R338W GTHR P10828/Q340H GTHR P10828/L341P GTHR P10828/K342I GTHR P10828/G345R GTHR P10828/G345S GTHR P10828/G345V GTHR P10828/L346F GTHR P10828/G347E GTHR P10828/V348E GTHR P10828/T426I GTHR P10828/R429Q PRTH P10828/I431M GTHR P10828/R438H GTHR P10828/M442V GTHR P10828/K443E GTHR P10828/C446R GTHR P10828/P447T GTHR P10828/P453H GTHR P10828/P453L GTHR P10828/P453S GTHR P10828/P453T GTHR P10828/F459C GTHR P24752/N93S 3KTD P24752/G152A 3KTD P24752/N158D 3KTD P24752/G183R 3KTD P24752/T297M 3KTD P24752/A301P 3KTD P24752/I312T 3KTD P24752/A333P 3KTD P24752/G379V 3KTD P24752/A380T 3KTD Q86W42/G46R MRT P00734/E72G FA2D P00734/E200K FA2D P00734/R314C FA2D P00734/R314H FA2D P00734/M380T FA2D P00734/R425C FA2D P00734/R431H FA2D P00734/R461W FA2D P00734/E509A FA2D P00734/G601V FA2D Q9UNY3/C183Y TDH3 Q9UNY3/C1264R TDH3 Q9UNY3/C1897Y TDH3 Q9UNY3/C1996S TDH3 Q9UNY3/A2234D TDH3 Q9UNY3/R2336Q TDH3 Q9UNY3/G2375R TDH3 P31483/E384K WDM Q02763/R849W VMCM Q02763/Y897C VMCM Q02763/Y897S VMCM Q02763/R915H VMCM Q02763/R918C VMCM Q02763/V919L VMCM Q02763/A925S VMCM Q02763/K1100N VMCM Q86X45/A74P CILD19 Q86X45/D146H CILD19 O60220/C66W MTS P35625/S179C SFD P35625/G189C SFD P35625/G190C SFD P35625/Y191C SFD P35625/S204C SFD Q9BSI4/K280E DKCA3 Q9BSI4/R282H DKCA3 and ERBMF Q9BSI4/R282S DKCA3 Q8WZB3/V54M CMD1G Q8WZB3/R279W HMERF Q8WZB3/R740L CMH9 Q8WZB3/A743V CMD1G Q8WZB3/W976R CMD1G Q8WZB3/S3799Y CMD1G Q8WZB3/S4465N CMD1G Q8WZB3/R32996Q CMD1G Q8WZB3/I34306N TMD Q8WZB3/L34315P TMD Q9UHF0/R80S HH10 Q9UHF0/M90T HH10 O43897/M182L ASD6 O43897/V238A ASD6 O43897/I629V ASD6 O15455/P554S HSE2 Q9NPI0/H96R JBTS16 Q9NPI0/A126T JBTS16 Q9NPI0/A127V JBTS16 Q9NPI0/Y130C JBTS16 Q9HC07/R126C CDG2K Q9HC07/R126H CDG2K Q9HC07/G304R CDG2K Q9P0N5/R73C JBTS2 Q9P0N5/R73H JBTS2 and MKS2 Q9P0N5/R73L JBTS2 Q9P0N5/G77A MKS2 Q9P0N5/L89F JBTS2 Q9P0N5/L114R MKS2 Q9H6L2/D209N JBTS20 Q8TDI8/D572N DFNA36 Q8TDI8/M654V DFNB7 Q9Y2B1/Y339C MDDGA10 Q9Y2B1/R340L MDDGA10 Q8TAF8/Y127C DFNB67 Q8TAF8/T165M DFNB67 Q8TAF8/R176L DFNB67 Q8NEW7/R81C DFNB6 Q8NEW7/R84W DFNB6 Q8NEW7/R92W DFNB6 Q9BTV4/E85K EDMD7 Q9BTV4/I91V EDMD7 Q9BTV4/S358L ARVD5 Q9BUB7/T210P MC5DN2 P57727/D103G DFBN8 P57727/R109W DFBN8 P57727/C194F DFBN8 P57727/R216L DFBN8 P57727/W251C DFBN8 P57727/P404L DFBN8 P57727/C407R DFBN8 Q8IXV8/E114K IRIDA Q8IXV8/A118D IRIDA Q8IXV8/Y141C IRIDA Q8IXV8/I212T IRIDA Q8IXV8/L235P IRIDA Q8IXV8/R271Q IRIDA Q8IXV8/S304L IRIDA Q8IXV8/Y418C IRIDA Q8IXV8/G442R IRIDA Q8IXV8/C510S IRIDA Q8IXV8/D521N IRIDA Q8IXV8/E522K IRIDA Q8IXV8/G603R IRIDA Q8IXV8/P765A IRIDA Q8IXV8/R774C IRIDA O14788/M199K OPTB2 P63316/A8V CMH13 P63316/L29Q CMH13 P63316/C84Y CMH13 P63316/E134D CMH13 P63316/D145E CMH13 P63316/G159R CMD1Z P48788/R174Q DA2B P19429/A2V CMD2A P19429/K36Q CMD1FF P19429/P82S CMH7 P19429/A116G CMD1FF P19429/R141Q CMH7 P19429/L144Q RCM1 P19429/R145G CMH7 P19429/R145W RCM1 P19429/A157V CMH7 P19429/R162P CMH7 P19429/R162Q CMH7 P19429/S166F CMH7 P19429/A171T RCM1 P19429/K178E RCM1 P19429/N185K CMD1FF P19429/R186Q CMH7 P19429/D190H CMH7 and RCM1 P19429/R192H RCM1 P19429/D196N CMH7 P19429/R204H CMH7 P19429/K206Q CMH7 P45379/A38V CMH2 P45379/F80L CMH2 P45379/I89N CMH2 P45379/R102L CMH2 P45379/R102Q CMH2 P45379/R102W CMH2 P45379/R104L CMH2 P45379/A114V CMH2 P45379/F120I CMH2 P45379/F120V CMH2 P45379/R140C CMH2 P45379/R141W CMD1D P45379/R151W CMD1D P45379/E173K CMH2 P45379/S189F CMH2 P45379/R215L CMD1D P45379/E254D CMH2 P45379/N281I CMH2 P45379/R288C CMH2 P45379/R288P CMH2 P45379/R296C CMH2 Q12976/R74H DA2B Q9Y6Q6/L21LALLLLCALL PDB2 Q9Y6Q6/L21LLLCALL FEO Q9Y6Q6/G53R OPTB7 Q9Y6Q6/R129C OPTB7 Q9Y6Q6/R170G OPTB7 Q9Y6Q6/C175R OPTB7 Q9Y6Q6/A244S OPTB7 Q9UCA4/H51Q FHF Q9UCA4/C59R FHF Q9UCA4/C59S FHF Q9UCA4/C62G FHF Q9UCA4/C62Y FHF Q9UCA4/P75L FHF Q9UCA4/T79M FHF Q9UCA4/C81F FHF Q9UCA4/C99S FHF Q9UCA4/S115G FHF Q9UCA4/C117R FHF Q9UCA4/C117Y FHF Q9UCA4/R121P FHF Q9UCA4/R121Q FHF P25942/C83R HIGM3 Q5T9P1/T28A ALPS1A Q5T9P1/C82R ALPS1A Q5T9P1/R121W ALPS1A Q5T9P1/Y232C ALPS1A Q5T9P1/T241K ALPS1A Q5T9P1/T241P ALPS1A Q5T9P1/V249L ALPS1A Q5T9P1/R250P ALPS1A Q5T9P1/R250Q ALPS1A Q5T9P1/G253D ALPS1A Q5T9P1/G253S ALPS1A Q5T9P1/A257D ALPS1A Q5T9P1/I259R ALPS1A Q5T9P1/D260G ALPS1A Q5T9P1/D260V ALPS1A Q5T9P1/D260Y ALPS1A Q5T9P1/I262S ALPS1A Q5T9P1/T270I ALPS1A Q5T9P1/T270K ALPS1A Q5T9P1/E272G ALPS1A Q5T9P1/E272K ALPS1A Q5T9P1/I310S ALPS1A Q8WZ04/L16P DFNB63 Q8WZ04/R81Q DFNB63 Q8WZ04/W105R DFNB63 Q8WZ04/E110K DFNB63 Q8WZ04/R158H DFNB63 Q8WZ04/R208Q DFNB63 Q9UJN0/M370T CPT-resistant leukemia Q9UJN0/D533G CPT-resistant leukemia Q9UJN0/N722S CPT-resistant leukemia Q9UJN0/T729A CPT-resistant lung cancer P0DI81/D47Y SEDT P0DI81/S73L SEDT P0DI81/F83S SEDT P0DI81/V130D SEDT Q9HC21/G125S THMD4 Q9HC21/G177A MCPHA Q8IWU9/R303W ADHD7 Q8IWU9/R433G RNA edited version Q8IWU9/Q468R RNA edited version P60174/C79Y TPI deficiency P60174/G110A TPI deficiency P60174/E142D TPI deficiency P60174/G160R Manchester P60174/V192M TPI deficiency P60174/I208V TPI deficiency P60174/V269M TPI deficiency P60174/F278L TPI deficiency Q9H3S4/L40P THMD5 Q9H3S4/N50H THMD5 Q9H3S4/N219S THMD5 Q6DV90/E40K CMD1Y Q6DV90/E54K CMD1Y Q6DV90/A63V CMH3 Q6DV90/D175N CMH3 Q6DV90/E180G CMH3 Q6DV90/E180V CMH3 Q6DV90/E192K LVNC9 Q6DV90/K248E LVNC9 P07951/R91G DA1A P07951/E117A NEM4 P07951/Q147P NEM4 Q9NQH8/M9R NEM1 Q9NQH8/L100M CD Q9NQH8/R168C CD and CAPM1 Q9NQH8/R168G CD Q9NQH8/R168H NEM1 and CAPM1 Q9NQH8/K169E CD Q9NQH8/R245G CD O43213/A80P TPMT deficiency O43213/A154T TPMT deficiency O43213/R215H TPMT deficiency O43213/H227Q TPMT deficiency O43213/Y240C TPMT deficiency P40238/S505N THCYT2 P40238/W515K MMM P40238/W515L THCYT2 and MMM O14773/S62T CLN2 O14773/G77R CLN2 O14773/R127Q CLN2 O14773/S153P CLN2 O14773/P202L CLN2 O14773/R206C CLN2 O14773/R206H CLN2 O14773/Y209H CLN2 O14773/R266Q CLN2 O14773/V277M CLN2 O14773/Q278P CLN2 O14773/G284V CLN2 O14773/N286S CLN2 O14773/I287N CLN2 O14773/R339Q CLN2 O14773/E343K CLN2 O14773/T353P CLN2 O14773/C365R CLN2 O14773/C365Y CLN2 O14773/S382R CLN2 O14773/V385D CLN2 O14773/G389E CLN2 O14773/Q422H CLN2 O14773/K428N CLN2 O14773/R447H CLN2 O14773/A448V CLN2 O14773/A454E CLN2 O14773/G473R CLN2 O14773/S475L CLN2 O14773/F481C CLN2 O14773/G482R CLN2 O14773/G501C CLN2 O14773/N504Y CLN2 O14773/P544S CLN2 O14773/W548R CLN2 Q9UBN6/P35S TRAIL-R4-B Q9UBN6/S310L TRAIL-R4-B O14836/C104R CVID2 and IGAD2 O14836/A181G CVID2 O14836/R202H CVID2 Q96RJ3/AGAGEAAL65V CVID4 Q13114/R118W HSE3 P07204/D34E AHUS6 P07204/A43T AHUS6 P07204/D53G AHUS6 P07204/V81L AHUS6 P07204/A236G AHUS6 P07204/D486Y THPH12 and AHUS6 P07204/P495S AHUS6 P07204/P501L AHUS6 Q9NZC2/D134G PLOSL Q9NZC2/K186N PLOSL Q9NSU2/D73N CHBL1 and AGS1 Q9NSU2/R169H AGS1 and SLE Q9NSU2/A213V SLE Q9NSU2/D255DD AGS1 Q9NSU2/D255N AGS1 Q9NSU2/V256D AGS1 Q9NSU2/G282S SLE Q9NSU2/R295S SLE Q9NSU2/A302P SLE Q9NSU2/P345L SLE Q9NSU2/Y360C SLE Q9NSU2/G361A SLE P02787/D77N ATRAF P02787/A477P ATRAF O15344/C266R OGS1 O15344/L295P OGS1 O15344/LC391R OGS1 O15344/V534VFIDSGRHL OGS1 O15344/I536T OGS1 O15344/L626P OGS1 Q13049/P130S BBS11 Q13049/R394H LGMD2H Q13049/D487N LGMD2H O94972/L76P MUL O94972/C109S MUL O94972/G322V MUL O75762/N855S FEPS Q9Y210/P112Q FSGS2 Q9Y210/N143S FSGS2 Q9Y210/H218L FSGS2 Q9Y210/S270T FSGS2 Q9Y210/R895C FSGS2 Q9Y210/E897K FSGS2 Q7Z4N3/Y56C CSNB1C Q7Z4N3/Y72C CSNB1C Q7Z4N3/R74C CSNB1C Q7Z4N3/L99P CSNB1C Q7Z4N3/L364R CSNB1C Q7Z4N3/R473P CSNB1C Q7Z4N3/G534R CSNB1C Q7Z4N3/M541K CSNB1C Q7Z4N3/P611H CSNB1C Q7Z4N3/R721Q CSNB1C Q7Z4N3/E883G CSNB1C Q7Z4N3/I1002F CSNB1C Q8TD43/E7K PFHB1B Q8TD43/Q131H PFHB1B Q8TD43/R164W PFHB1B Q8TD43/Q293R PFHB1B Q8TD43/A432T PFHB1B Q8TD43/G582S PFHB1B Q8TD43/Y790H PFHB1B Q8TD43/G844D PFHB1B Q8TD43/K914R PFHB1B Q8TD43/P970S PFHB1B Q9BX84/S141L HOMG1 Q9UHF7/V894D TRPS3 Q9UHF7/T901P TRPS3 Q9UHF7/R908P TRPS3 Q9UHF7/R908Q TRPS3 Q9UHF7/A919T TRPS3 Q9UHF7/R952C TRPS1 Q9UHF7/R952H TRPS1 Q8NET8/G573C OLMS Q8NET8/G573S OLMS Q8NET8/W692G OLMS Q8NG64/T89I MTD Q8NG64/P97R DSMAC Q8NG64/K197R MTD Q8NG64/L199F MTD Q8NG64/R232C DSMAC and CMT2C Q8NG64/R269C CMT2C Q8NG64/R269H DSMAC and CMT2C Q8NG64/G270V FDAB Q8NG64/R271P FDAB Q8NG64/F273L FDAB Q8NG64/E278K SMDK Q8NG64/T295A MTD Q8NG64/R315W CMT2C Q8NG64/R316C CMT2C and SPSMA Q8NG64/R316H CMT2C Q8NG64/I331F MTD Q8NG64/I331T MTD Q8NG64/D333G SMDK Q8NG64/V342F MTD Q8NG64/S542Y CMT2C Q8NG64/F592L MTD Q8NG64/R594H SMDK and PSTD Q8NG64/L596P SMDK Q8NG64/G600W SMDK Q8NG64/I604M MTD Q8NG64/R616Q BRAC3 Q8NG64/F617L MTD Q8NG64/L618P MTD Q8NG64/V620I BRAC3 Q8NG64/M625I SMDK Q8NG64/L709M SMDK Q8NG64/A716S SMDK Q8NG64/R775K MTD Q8NG64/C777Y SMDK Q8NG64/E797K MTD and SMDK Q8NG64/P799A MTD Q8NG64/P799L MTD Q8NG64/P799R MTD Q8NG64/P799S MTD Q9Y606/R144W MLASA1 Q9HAN4/A16V PCTT Q9HAN4/D22G PCTT Q9HAN4/K23R PCTT Q9HAN4/N29I PCTT Q9HAN4/N29T PCTT Q9HAN4/N54S PCTT Q9HAN4/E79K PCTT Q9HAN4/L104P PCTT Q9HAN4/R116C PCTT Q9HAN4/R122C PCTT Q9HAN4/R122H PCTT Q9HAN4/C139F PCTT Q92574/E51D TSC1 Q92574/L72P TSC1 Q92574/L191H TSC1 Q92574/NF198I TSC1 Q92574/M224R TSC1 Q92574/T417I TSC1 Q92574/R500Q TSC1 Q92574/CKIP586S TSC1 Q92574/Q654E TSC1 Q92574/A726E TSC1 Q92574/H732Y FCDBC Q92574/T899S TSC1 P49815/H137R TSC2 P49815/C227Y TSC2 P49815/K258N TSC2 P49815/R261P TSC2 P49815/L292P TSC2 P49815/G294E TSC2 P49815/W304WGMALW TSC2 P49815/N331K TSC2 P49815/L361P TSC2 P49815/Y407D TSC2 P49815/M449I TSC2 P49815/N486I TSC2 P49815/N525S TSC2 P49815/K599M TSC2 P49815/R611Q TSC2 and LAM P49815/R611W TSC2 P49815/A614D TSC2 P49815/D647N TSC2 P49815/C696Y TSC2 P49815/L717R TSC2 P49815/V769E TSC2 P49815/P816L TSC2 P49815/L826M TSC2 P49815/M895V TSC2 P49815/R905Q TSC2 P49815/R905W TSC2 P49815/V963M TSC2 P49815/L1027P TSC2 P49815/D1084E TSC2 P49815/V1144M TSC2 P49815/R1200W TSC2 P49815/P1227L TSC2 P49815/R1240W TSC2 P49815/D1295V TSC2 P49815/P1315S TSC2 P49815/R1329H TSC2 P49815/P1497R TSC2 P49815/S1498N TSC2 P49815/Y1549C TSC2 P49815/L1594M TSC2 P49815/H1620Y TSC2 P49815/N1643I TSC2 P49815/N1643K TSC2 P49815/Y1650C TSC2 P49815/N1651S TSC2 P49815/S1653F TSC2 P49815/P1675L TSC2 P49815/N1681K TSC2 P49815/D1690Y TSC2 P49815/S1704T TSC2 P49815/P1709L TSC2 P49815/A1712E TSC2 P49815/R1743P TSC2 P49815/R1743Q TSC2 P49815/L1744P TSC2 P49815/L1750F TSC2 P49815/H1773P TSC2 P49815/E1783Q TSC2 Q9UPH3/C41S CHNG1 Q9UPH3/R109Q CHNG1 Q9UPH3/P162A CHNG1 Q9UPH3/I167N CHNG1 Q9UPH3/K183R HTFG Q9UPH3/L252P CHNG1 Q9UPH3/S281N HTNA Q9UPH3/R310C CHNG1 Q9UPH3/C390W CHNG1 Q9UPH3/D410N CHNG1 Q9UPH3/S425I TTNs Q9UPH3/G431S HTNA Q9UPH3/R450H CHNG1 Q9UPH3/M453T HTNA Q9UPH3/M463V HTNA Q9UPH3/L467P CHNG1 Q9UPH3/T477I CHNG1 Q9UPH3/I486F HTNA Q9UPH3/I486M HTNA Q9UPH3/G498S CHNG1 Q9UPH3/S505N HTNA Q9UPH3/S505R HTNA Q9UPH3/V509A HTNA Q9UPH3/L512Q TTNs Q9UPH3/F525L CHNG1 Q9UPH3/A553T CHNG1 Q9UPH3/I568T HTNA Q9UPH3/V597F HTNA Q9UPH3/C600R CHNG1 Q9UPH3/L629F HTNA Q9UPH3/F631L HTNA Q9UPH3/T632A HTNA Q9UPH3/T632I HTNA Q9UPH3/D633E HTNA Q9UPH3/P639A TTNs Q9UPH3/P639S HTNA Q9UPH3/A647V HTNA Q9UPH3/N650Y HTNA Q9UPH3/V656F TTNs Q9UPH3/N670S HTNA Q9UPH3/C672Y HTNA O95859/T49M EVR5 O95859/L101H EVR5 O95859/Y138C EVR5 O95859/G188R EVR5 O95859/M210R EVR5 O95859/L223P EVR5 O95859/A237P EVR5 P41732/P172H MRX58 Q9HAK8/W150R NPHP12 Q9HAK8/K157E BBS Q9HAK8/P209L NPHP12 Q9HAK8/T231S ATD4, NPHP12 and BBS Q9HAK8/Y255C BBS Q9HAK8/R411G BBS Q9HAK8/H566R NPHP12 Q9HAK8/S591N JBTS11 Q9HAK8/P753L NPHP12 Q9HAK8/D755Y ATD4 Q9HAK8/L795P ATD4 Q9HAK8/R867C JBTS11 Q9HAK8/M1011T JBTS11 Q9HAK8/T1103R BBS Q9HAK8/Y1167C NPHP12 Q9HAK8/M1186V JBTS11 Q9HAK8/I1208S BBS Q6PGP7/G251R THES1 Q6PGP7/D1283N THES1 Q6PGP7/L1505S THES1 Q9ULT0/L823P MINAT P02766/C30R AMYL-TTR P02766/L32P AMYL-TTR P02766/D38E AMYL-TTR P02766/D38G AMYL-TTR P02766/V40I AMYL-TTR P02766/S43N AMYL-TTR P02766/P44S AMYL-TTR P02766/V48M AMYL-TTR P02766/V50A AMYL-TTR P02766/V50G AMYL-TTR P02766/V50L AMYL-TTR P02766/V50M AMYL-TTR P02766/F53I AMYL-TTR P02766/F53L AMYL-TTR P02766/F53V AMYL-TTR P02766/R54T AMYL-TTR P02766/K55N AMYL-TTR P02766/A56P AMYL-TTR P02766/D58A AMYL-TTR P02766/D58V AMYL-TTR P02766/W61L AMYL-TTR P02766/E62D AMYL-TTR P02766/E62G AMYL-TTR P02766/F64S AMYL-TTR P02766/A65D AMYL-TTR P02766/A65S AMYL-TTR P02766/A65T AMYL-TTR P02766/G67A AMYL-TTR P02766/G67E AMYL-TTR P02766/G67R AMYL-TTR P02766/G67V AMYL-TTR P02766/T69A AMYL-TTR P02766/T69I AMYL-TTR P02766/S70I AMYL-TTR P02766/S70R AMYL-TTR P02766/S72P AMYL-TTR P02766/G73E AMYL-TTR P02766/E74G AMYL-TTR P02766/E74K AMYL-TTR P02766/L75P AMYL-TTR P02766/L75Q AMYL-TTR P02766/L78H AMYL-TTR P02766/L78R AMYL-TTR P02766/T79K AMYL-TTR P02766/T80A AMYL-TTR P02766/E81G AMYL-TTR P02766/E81K AMYL-TTR P02766/F84L AMYL-TTR P02766/I88L AMYL-TTR P02766/Y89H AMYL-TTR P02766/K90N AMYL-TTR P02766/V91A AMYL-TTR P02766/I93V AMYL-TTR P02766/S97Y AMYL-TTR P02766/Y98F AMYL-TTR P02766/I104N AMYL-TTR P02766/I104S AMYL-TTR P02766/I104T AMYL-TTR P02766/E109K AMYL-TTR P02766/E109Q AMYL-TTR P02766/A111S AMYL-TTR P02766/A117G AMYL-TTR P02766/A117S AMYL-TTR P02766/T126N AMYL-TTR P02766/I127M AMYL-TTR P02766/I127V AMYL-TTR P02766/A129T HTDE P02766/L131M AMYL-TTR P02766/Y134C AMYL-TTR P02766/Y134H CTS1 P02766/Y136S AMYL-TTR P02766/T139M Chicago variant P02766/A140S AMYL-TTR P02766/V142A AMYL-TTR P02766/V142I AMYL-TTR P02766/N144S AMYL-TTR P49638/R59W AVED P49638/H101Q AVED P49638/A120T AVED P49638/E141K AVED P49638/R192H AVED P49638/R221W AVED P49638/G246R AVED O00294/A245V RP14 O00294/K261T RP14 O00294/G368W LCA15 O00294/R378H RP14 O00294/F382S RP14 O00294/R400W LCA15 O00294/R420P RP14 O00294/T454M RP14 O00294/I459K RP14 O00294/R482W RP14 O00294/K489R RP14 O00294/F491L RP14 O00294/A496T RP14 O00294/A529AFA LCA15 Q15672/Q119P SCS Q15672/L131P SCS Q15672/I135IAALRKII SCS Q15672/P139PKIIPTLP SCS Q15672/I156V SCS Q15672/A186T CRS1 Q15672/S188L CRS1 P53007/P45L D2L2AD P53007/E144Q D2L2AD P53007/G167R D2L2AD P53007/S193W D2L2AD P53007/M202T D2L2AD P53007/R282C D2L2AD P53007/R282G D2L2AD P53007/Y297C D2L2AD P07101/R233H ARSEGS P07101/L236P ARSEGS P07101/T276P ARSEGS P07101/T314M ARSEGS P07101/R337H ARSEGS P07101/Q412K ARSEGS P07101/T494M ARSEGS Q9NUW8/H493R SCAN1 P19971/R44Q MTDPS1 P19971/G145R MTDPS1 P19971/G153S MTDPS1 P19971/K222R MTDPS1 P19971/E289A MTDPS1 P14679/H19Q OCA1A P14679/P21S OCA1A P14679/C36Y OCA1A P14679/D42G OCA1A P14679/S44G OCA1A P14679/S44R OCA1A P14679/G47D OCA1A P14679/G47V OCA1A P14679/R52I OCA1 P14679/C55Y OCA1A P14679/Q68H OCA1A P14679/R77Q OCA1A P14679/R77RR OCA1A P14679/R77W OCA1A P14679/S79L OCA1A P14679/W80R OCA1A P14679/P81L OCA1A P14679/C89R OCA1A P14679/G97R OCA1A P14679/G109R OCA1A P14679/P152S OCA1B P14679/T155S OCA1A P14679/F176I OCA1A P14679/V177F OCA1A P14679/M179L OCA1A P14679/H180N OCA1A P14679/D199N OCA1A P14679/A201S OCA1A P14679/P205T OCA1A P14679/A206T OCA1A P14679/L216M OCA1A P14679/R217G OCA1A P14679/R217Q OCA1A P14679/R217S OCA1A P14679/R217W OCA1A P14679/W236L OCA1A P14679/W236S OCA1A P14679/R239W OCA1A P14679/D240V OCA1A P14679/K243T OCA1A P14679/G253R OCA1A P14679/H256Y OCA1A P14679/W272C OCA1A P14679/V275F OCA1B P14679/L288S OCA1A P14679/C289G OCA1A P14679/C289R OCA1A P14679/E294G OCA1A P14679/E294K OCA1A and OCA1B P14679/R299H OCA1A P14679/R299S OCA1A P14679/L312V OCA1 P14679/P313R OCA1 P14679/V318E OCA1A P14679/T325A OCA1B P14679/E328Q OCA1A P14679/S329P OCA1A P14679/M332T OCA1A P14679/S339G OCA1A P14679/F340L OCA1 P14679/E345G OCA1A P14679/G346E OCA1A P14679/A355E OCA1A P14679/A355P OCA1A P14679/S361R OCA1A P14679/H367Y OCA1A P14679/M370T OCA1A P14679/N371T OCA1A P14679/N371Y OCA1A P14679/T373K OCA1A P14679/Q378K OCA1A P14679/S380P OCA1B P14679/N382K OCA1A P14679/D383N OCA1A P14679/H390D OCA1B P14679/V393F OCA1A P14679/S395N OCA1A P14679/S395R OCA1A P14679/E398A OCA1A P14679/E398V OCA1A P14679/W400L OCA1A P14679/R402G OCA1B P14679/R402L OCA1A P14679/R403S OCA1A and OCA1B P14679/H404N OCA1A P14679/H404P OCA-I P14679/R405L OCA1A P14679/P406L OCA1A and OCA1B P14679/Q408H OCA1A P14679/E409D OCA1A P14679/A416S OCA1A P14679/P417H OCA1A P14679/G419R OCA1A P14679/R422Q OCA1A and OCA1B P14679/S424F OCA1A P14679/M426K OCA1A P14679/V427G OCA1A P14679/P431L OCA1A P14679/R434I OCA1A P14679/N435D OCA1A P14679/F439V OCA1A P14679/D444G OCA1A P14679/G446S OCA1A P14679/D448N OCA1A P17643/R356Q OCA3 O75643/R681C RP33 O75643/R681H RP33 O75643/V683L RP33 O75643/Y689C RP33 O75643/S1087L RP33 O75643/R1090L RP33 Q15029/R262W MFDM Q15029/C476R MFDM Q15029/L637R MFDM P22314/M539I SMAX2 P22314/S547G SMAX2 P49459/R11Q MRXSN P49459/G23R MRXSN Q9UEP8/I826II AS Q7Z3V4/Q727P BPIDS Q9Y5Z9/A97T SCCD Q9Y5Z9/G98S SCCD Q9Y5Z9/N102S SCCD Q9Y5Z9/D112G SCCD Q9Y5Z9/D112N SCCD Q9Y5Z9/D118G SCCD Q9Y5Z9/R119G SCCD Q9Y5Z9/L121F SCCD Q9Y5Z9/V122E SCCD Q9Y5Z9/V122G SCCD Q9Y5Z9/S171P SCCD Q9Y5Z9/T175I SCCD Q9Y5Z9/G177E SCCD Q9Y5Z9/G177R SCCD Q9Y5Z9/G186R SCCD Q9Y5Z9/L188H SCCD Q9Y5Z9/N232S SCCD Q9Y5Z9/D236E SCCD Q9Y5Z9/D240N SCCD Q9UHD9/S155N ALS15 Q9UHD9/P189T ALS15 Q9UHD9/A283T ALS15 Q9UHD9/Q425R ALS15 Q9UHD9/T487I ALS15 Q9UHD9/P497H ALS15 Q9UHD9/P497S ALS15 Q9UHD9/P506T ALS15 Q9UHD9/P509S ALS15 Q9UHD9/P525S ALS15 Q8IWV7/H136R JBS Q8IWV7/G1279S JBS P09936/I93M PARK5 P22309/L15R CN2 P22309/P34Q CN2 P22309/H39D CN1 P22309/G71R CN2, GILBS and HBLRTFN P22309/F83L GILBS P22309/L175Q CN2 P22309/C177R CN1 P22309/S191F CN2 P22309/R209W CN2 P22309/V225G CN2 P22309/P229Q CN2 and GILBS P22309/G276R CN1 P22309/N279Y CN2 P22309/E291V CN1 P22309/A292V CN1 P22309/I294T GILBS and CN2 P22309/G308E CN1 P22309/Q331R CN2 P22309/R336L CN1 and CN2 P22309/R336Q CN1 P22309/R336W CN2 P22309/W354R CN2 P22309/Q357R CN1 P22309/R367G GILBS P22309/A368T CN1 P22309/I370V CN2 P22309/S375F CN1 P22309/H376R CN1 and CN2 P22309/G377V CN1 and CN2 P22309/S381R CN1 P22309/P387H CN2 P22309/P387S CN1 P22309/G395V CN1 P22309/N400D CN2 P22309/A401P CN1 P22309/K402T CN1 P22309/R403C CN2 P22309/K428E CN1 P22309/L443P CN2 P22309/W461R CN1 and CN2 P22309/A478D CN2 P22309/Y486D CN2, GILBS and HBLRTFN P22310/L132P CN2 P22310/Q332R CN2 P22310/S376F CN1 P22310/Y487D CN2 Q9UG49/R96G ORAC1 Q9UG49/V109G ORAC1 Q9UG49/G429R ORAC1 P13051/F251S HIGM5 O75631/G202D RADYS O75631/P273L RADYS P07911/C77Y HNFJ1 P07911/VCPEG93AASC MCKD2 P07911/G103C MCKD2 P07911/C126R HNFJ1 P07911/N128S HNFJ1 P07911/C148W MCKD2/HNFJ1 P07911/C148Y HNFJ1 P07911/C150S MCKD2/HNFJ1 P07911/C217R HNFJ1 P07911/C223Y HNFJ1 P07911/T225K MCKD2 P07911/C248W MCKD2 P07911/C255Y HNFJ1 P07911/C300G HNFJ1 P07911/C315R GCKDHI P07911/C317Y MCKD2/HNFJ1 Q495M9/L48P USH1G Q495M9/D458V USH1G O75445/C163Y USH2A O75445/V218E USH2A O75445/V230M USH2A O75445/G268R USH2A O75445/L280F USH2A O75445/E284K USH2A O75445/R303C USH2A O75445/R303S USH2A O75445/S307I USH2A O75445/C319Y USH2A O75445/R334Q USH2A O75445/R334W USH2A O75445/N346H USH2A O75445/T352I USH2A O75445/N357T USH2A O75445/S391I USH2A O75445/C419F USH2A and RP39 O75445/R464C USH2A O75445/E478D RP39 and USH2A O75445/G516V USH2A O75445/R517T USH2A O75445/C536R USH2A O75445/L555V USH2A O75445/C575S USH2A O75445/H610P USH2A O75445/G713R USH2A O75445/F739L RP39 O75445/C759F RP39 and USH2A O75445/P761R USH2A O75445/T911N RP39 O75445/P1059L USH2A O75445/P1212L USH2A O75445/L1470R RP39 O75445/T1515M USH2A O75445/V1833E USH2A O75445/F1859C RP39 O75445/A2249D USH2A O75445/EY2265D USH2A O75445/R2354H USH2A O75445/R2460H RP39 O75445/A2795S USH2A O75445/R3124G USH2A O75445/C3251R USH2A O75445/C3267R USH2A O75445/C3282R USH2A O75445/C3358Y RP39 O75445/Y3472YY USH2A O75445/P3504T USH2A O75445/W3521R USH2A O75445/T3571M USH2A O75445/S3669R RP39 O75445/G3895E USH2A O75445/T3976M USH2A O75445/S4054I USH2A O75445/R4115C USH2A and RP39 O75445/R4192H RP39 O75445/P4232R USH2A O75445/T4337M USH2A O75445/T4425M USH2Aand RP39 O75445/T4439I USH2A O75445/Y4487C USH2A O75445/Q4592H USH2A O75445/R4674G RP39 O75445/L4795R USH2A O75445/P4818L USH2A Q13336/N74K Jk(null Q13336/M167V Jk(null Q13336/D280N Jk(b Q13336/S291P Jk(null Q13336/G299E Jk(null Q13336/T319M Jk(null Q2YD98/C32R UVSS3 P30518/L43P XNDI P30518/L44P XNDI P30518/I46K XNDI P30518/L53R XNDI P30518/N55D XNDI P30518/N55H XNDI P30518/L59P XNDI P30518/L62P XNDI P30518/H80R XNDI P30518/L81F XNDI P30518/L83P XNDI P30518/L83Q XNDI P30518/A84D XNDI P30518/D85N XNDI P30518/V88M XNDI P30518/Q92R XNDI P30518/L94Q XNDI P30518/P95L XNDI P30518/W99R XNDI P30518/R104C XNDI P30518/F105V XNDI P30518/R106C XNDI P30518/G107E XNDI P30518/C112R XNDI P30518/C112Y XNDI P30518/R113W XNDI P30518/G122D XNDI P30518/G122R XNDI P30518/M123K XNDI P30518/S126F XNDI P30518/S127F XNDI P30518/Y128S XNDI P30518/I130F XNDI P30518/A132D XNDI P30518/L135P XNDI P30518/R137C NSIAD P30518/R137H XNDI P30518/R137L NSIAD P30518/R143P XNDI P30518/A163P XNDI P30518/W164S XNDI P30518/S167L XNDI P30518/S167T XNDI P30518/P173S XNDI P30518/Q174L XNDI P30518/R181C XNDI P30518/G185C XNDI P30518/D191G XNDI P30518/G201D XNDI P30518/R202C XNDI P30518/R203C XNDI P30518/T204N XNDI P30518/Y205C XNDI P30518/V206D XNDI P30518/T207N XNDI P30518/I209F XNDI P30518/F214S XNDI P30518/P217T XNDI P30518/L219P XNDI P30518/L219R XNDI P30518/M272K XNDI P30518/V277A XNDI P30518/Y280C XNDI P30518/L282P XNDI P30518/A285P CDNI P30518/P286L XNDI P30518/P286R XNDI P30518/P286S XNDI P30518/F287L XNDI P30518/L289P XNDI P30518/L292P XNDI P30518/A294P XNDI P30518/L309P XNDI P30518/L309R XNDI P30518/S315R XNDI P30518/N317K XNDI P30518/C319R XNDI P30518/N321D XNDI P30518/N321K XNDI P30518/N321Y XNDI P30518/P322H XNDI P30518/P322S XNDI P30518/W323R XNDI P30518/W323S XNDI Q8TAA9/S83L NTD Q8TAA9/F153S NTD Q8TAA9/R181Q NTD Q8TAA9/L202F NTD Q8TAA9/V239I SDAM Q8TAA9/R274Q NTD Q8TAA9/M328T NTD Q8TAA9/A404S NTD Q9ULK5/S84F NTD Q9ULK5/R353C NTD Q9ULK5/F437S NTD O95292/T46I ALS8 O95292/P56S ALS8 and SMAPAD Q5SQQ9/R152S MCOPS11 P11473/G33D VDDR2A P11473/H35Q VDDR2A P11473/K45E VDDR2A P11473/G46D VDDR2A P11473/F47I VDDR2A P11473/R50Q VDDR2A P11473/R73Q VDDR2A P11473/R80Q VDDR2A P11473/R274L VDDR2A P11473/H305Q VDDR2A P11473/I314S VDDR2A P11473/R391C VDDR2A P35968/C482R HCI susceptibility P35968/P1147S HCI P35916/G857R LMPH1A P35916/P954S HCI P35916/H1035R LMPH1A P35916/R1041P LMPH1A P35916/L1044P LMPH1A P35916/P1114L LMPH1A P35916/P1137S HCI Q8NDX2/A211V DFNA25 P40337/S38P VHLD P40337/E52K VHLD P40337/S65L VHLD P40337/S65W VHLD P40337/E70K VHLD P40337/V74G VHLD P40337/F76I VHLD P40337/F76L VHLD P40337/F76S VHLD P40337/N78H VHLD P40337/N78S VHLD P40337/N78T VHLD P40337/R79P VHLD P40337/S80I VHLD P40337/S80R VHLD P40337/P81S VHLD P40337/R82P VHLD P40337/V84L VHLD P40337/P86A VHLD P40337/P86H VHLD P40337/P86L VHLD P40337/P86R VHLD P40337/P86S VHLD P40337/W88R VHLD P40337/W88S VHLD P40337/L89P VHLD P40337/G93D VHLD P40337/Q96P VHLD P40337/L101G VHLD P40337/L101R VHLD P40337/T105P VHLD P40337/R107P VHLD P40337/S111C VHLD P40337/S111N VHLD P40337/S111R VHLD P40337/Y112H VHLD P40337/Y112N VHLD P40337/G114C VHLD P40337/G114R VHLD P40337/G114S VHLD P40337/H115Q VHLD P40337/H115R VHLD P40337/H115Y VHLD P40337/L116V VHLD P40337/W117C VHLD P40337/L118P VHLD P40337/L118R VHLD P40337/F119S VHLD P40337/D121G VHLD P40337/D126Y ECYT2 P40337/L128F VHLD P40337/L129LE VHLD P40337/V130L ECYT2 and VHLD P40337/N131K VHLD P40337/N131T VHLD P40337/F136S VHLD P40337/F136Y VHLD P40337/D143E VHLD P40337/Q145H VHLD P40337/A149T VHLD P40337/P154L VHLD P40337/V155G VHLD P40337/V155M VHLD P40337/Y156D VHLD P40337/T157I VHLD P40337/T157TF VHLD P40337/L158P VHLD P40337/L158V VHLD P40337/K159E VHLD P40337/R161G VHLD P40337/C162F VHLD P40337/C162R VHLD P40337/C162W VHLD P40337/C162Y VHLD P40337/L163P RCC P40337/Q164H VHLD P40337/Q164R VHLD P40337/V166D VHLD P40337/V166F VHLD P40337/R167G VHLD P40337/V170D VHLD P40337/V170F VHLD P40337/V170G VHLD P40337/Y175D VHLD P40337/R176W VHLD P40337/R177RLRVKPE VHLD P40337/L178P VHLD P40337/L178Q VHLD P40337/I180V VHLD P40337/L184P VHLD P40337/L184R VHLD P40337/E186K VHLD P40337/L188P VHLD P40337/L188Q VHLD P40337/L188V ECYT2, pheochromocytoma and VHLD P40337/H191D ECYT2 P40337/P192S ECYT2 P40337/L198R ECY2 and VHLD P40337/R200W ECYT2 and VHLD Q8N850/E151K CTRC30 P18206/L277M CMH15 P18206/R975W CMD1W P38435/F299S PXEL-MCFD P38435/L394R VKCFD1 P38435/R476C PXEL-MCFD P38435/R476H PXEL-MCFD P38435/R485P VKCFD1 P38435/W493S PXEL-MCFD P38435/W501S VKCFD1 P38435/G558R PXEL-MCFD Q9BQB6/A26T CMRES Q9BQB6/V29L CMRES Q9BQB6/D36G CMRES Q9BQB6/D36Y CMRES Q9BQB6/V45A CMRES Q9BQB6/S52W CMRES Q9BQB6/S56F CMRES Q9BQB6/R58G CMRES Q9BQB6/W59C CMRES Q9BQB6/W59L CMRES Q9BQB6/V66G CMRES Q9BQB6/V66M CMRES Q9BQB6/G71A CMRES Q9BQB6/N77S CMRES Q9BQB6/N77Y CMRES Q9BQB6/R98W VKCFD2 Q9BQB6/I123N CMRES Q9BQB6/L128R CMRES Q9BQB6/Y139H CMRES Q9H995/I90K CHAC Q9H995/A1095P CHAC Q9H995/S1452P CHAC Q9H995/W2460R CHAC Q9H995/Y2721C CHAC Q8NB77/L2193R COH1 Q8NB77/Y2341C COH1 Q8NB77/G2645D COH1 Q8NB77/S2773L COH1 Q8NB77/I2820T COH1 Q8NB77/N2993S COH1 Q9H267/L30P ARCS1 Q9H267/S243F ARCS1 Q8NEZ2/K382N SPG53 Q13488/A141P OPTB1 Q13488/G405R OPTB1 Q13488/R444L OPTB1 Q13488/D517N OPTB1 Q13488/P775R OPTB1 Q9HBG4/G175D RTADR Q9HBG4/R449H RTADR Q9HBG4/P524L RTADR Q9HBG4/M580T RTADR Q9HBG4/R807Q RTADR Q9HBG4/G820R RTADR Q9NX80/D620N PARK17 Q9NRW7/T224N SCN5 Q9NRW7/E238K SCN5 Q0GM65/L17P KTCN1 Q0GM65/D144E PPCD1 and KTCN1 Q0GM65/L159M KTCN1 Q0GM65/G160D PPCD1 Q0GM65/R166W KTCN1 Q0GM65/Q175H KTCN1 Q0GM65/H244R KTCN1 Q0GM65/P247R KTCN1 Q0GM65/A256S CAASDS P58304/R200P MCOPCTI P58304/R200Q MCOPCTI P58304/G223A MCOP2 P58304/R227W MCOP2 P04275/R273W VWD1 and VWD3 P04275/W377C VWD3 P04275/N528S VWD2 P04275/G550R VWD2 P04275/C788Y VWD2 P04275/T791M VWD2 P04275/R816W VWD2 P04275/R854Q VWD2 P04275/C1060R VWD2 P04275/C1149R VWD1 P04275/P1266L VWD2 P04275/H1268D VWD2 P04275/C1272F VWD2 P04275/C1272R VWD2 P04275/R1306W VWD2 P04275/R1308C VWD2 P04275/W1313C VWD2 P04275/V1314L VWD2 P04275/V1316M VWD2 P04275/V1318L VWD2 P04275/G1324S VWD2 P04275/R1341Q VWD2 P04275/R1374C VWD2 P04275/R1374H VWD2 P04275/L1460V VWD2 P04275/A1461V VWD2 P04275/F1514C VWD2 P04275/L1540P VWD2 P04275/R1597G VWD2 P04275/R1597Q VWD2 P04275/R1597W VWD2 P04275/V1607D VWD2 P04275/G1609R VWD2 P04275/S1613P VWD2 P04275/I1628T VWD2 P04275/E1638K VWD2 P04275/P1648S VWD2 P04275/V1665E VWD2 P04275/P2063S VWD3 P04275/C2362F VWD3 P04275/N2546Y VWD3 P04275/C2739Y VWD3 P04275/C2773R VWD2 Q9BUR4/F164L DKCB3 Q9BUR4/H376Y DKCB3 Q9BUR4/R398W DKCB3 Q9BUR4/G435R DKCB3 P42768/L27F THC1 P42768/E31K WAS P42768/C43W WAS P42768/T45M WAS and THC1 P42768/T48I THC1 P42768/Q52H WAS P42768/A56V THC1 P42768/P58L WAS P42768/P58R THC1 P42768/G70W WAS P42768/C73R WAS P42768/V75M THC1 P42768/S82P WAS P42768/Y83C THC1 P42768/F84L WAS P42768/R86C WAS P42768/R86H WAS P42768/R86L WAS P42768/G89D WAS P42768/W97C WAS P42768/E131K WAS P42768/E133K WAS P42768/A134T WAS P42768/G187C WAS P42768/A236E THC1 P42768/L270P XLN P42768/K476E WAS P42768/R477K THC1 P42768/I481N THC1 Q9BZH6/R395W HH14 Q9BZH6/A435T HH14 Q9BZH6/R448Q HH14 Q9BZH6/H690Q HH14 Q9BZH6/F1150L HH14 Q8NEZ3/L7P ATD5 Q8NEZ3/V345G NPHP13 Q8NEZ3/L710S CED4 Q9P2L0/W261R SRPS5 Q9P2L0/E626G CED2 Q9P2L0/A875T CED2 Q8NI36/N355S GLC1G Q8NI36/A449T GLC1G Q8NI36/R529Q GLC1G Q8NI36/D658G GLC1G O43379/V65M MCPH2 O43379/W224S MCPH2 O43379/R438H MCPH2 O43379/D511N MCPH2 O43379/E526K MCPH2 Q96MR6/D523Y VWS2 Q8TEL1/P856L CAMRQ2 O76024/A58V WFS1 O76024/Y110N WFS1 O76024/A126T WFS1 O76024/A133T WFS1 O76024/E169K WFS1 O76024/P292S WFS1 O76024/I296S WFS1 O76024/G437R WFS1 O76024/S443I WFS1 O76024/R457S WFS1 O76024/P504L WFS1 O76024/R558C WFS1 O76024/R629W WFS1 O76024/K634T DFNA6 O76024/Y669C WFS1 O76024/A684V WFSL O76024/C690R WFS1 O76024/G695V WFS1 O76024/T699M DFNA6 O76024/W700C WFS1 O76024/A716T DFNA6 O76024/P724L WFS1 O76024/G736S WFS1 O76024/V779M DFNA6 O76024/G780R WFS1 O76024/G780S WFSL O76024/D797Y WFSL O76024/R818C WFS1 O76024/L829P DFNA6 O76024/G831D DFNA6 O76024/K836N WFSL O76024/R859Q DFNA6 O76024/E864K WFSL O76024/P885L WFS1 O95389/C78R PPAC Q9GZT5/E95K STHAG4 Q9GZT5/R128Q OODD and STHAG4 Q9GZT5/D217N STHAG4 Q9GZT5/F228I OODD and STHAG4 O00744/R332W SHFM6 Q96J92/E562K PHA2B Q96J92/D564A PHA2B Q96J92/Q565E PHA2B Q96J92/R1185C PHA2B P04628/C143F OI15 P04628/G177C OI15 P04628/C218G OSTEOP P04628/R235W OSTEOP P04628/F298C OI15 P04628/V355F OI15 P56705/L12P RKH syndrome P56705/R83C RKH syndrome P56705/A114V SERKAL P56705/E216G RKH syndrome P41221/C83S DRS P41221/C182R DRS O00755/E72K LPHAS O00755/A109T FUHRS O00755/R222W LPHAS O00755/R292C LPHAS Q14191/K125N WRN Q14191/K135E WRN Q4VXV6/P181S WT1 Q4VXV6/S223N WT1 Q4VXV6/G253A WT1 Q4VXV6/L281P RNA edited version Q4VXV6/R312Q NPHS4 Q4VXV6/C330Y DDS Q4VXV6/M342R DDS Q4VXV6/C355G WT1 Q4VXV6/C355Y DDS Q4VXV6/C360G DDS Q4VXV6/C360Y DDS Q4VXV6/F364L NPHS4 Q4VXV6/R366C WT1, DDS and MEACHS Q4VXV6/R366H DDS and WT1 Q4VXV6/R366L DDS Q4VXV6/Q369P DDS Q4VXV6/H373Q DDS and WT1 Q4VXV6/H373Y DDS Q4VXV6/H377R DDS Q4VXV6/H377Y NPHS4 Q4VXV6/G379C NPHS4 Q4VXV6/F383L NPHS4 Q4VXV6/C385R DDS Q4VXV6/C388F DDS Q4VXV6/C388R NPHS4 Q4VXV6/C388Y DDS Q4VXV6/F392L FS Q4VXV6/R394L WT1 Q4VXV6/R394P DDS Q4VXV6/R394Q DDS Q4VXV6/R394W DDS, WT1 and MEACHS Q4VXV6/D396G DDS Q4VXV6/D396N DDS and NPHS4 Q4VXV6/D396Y DDS Q4VXV6/H397P NPHS4 Q4VXV6/L398P DDS Q4VXV6/H401Y DDS Q4VXV6/H405R DDS P47989/R149C XU1 P51811/R222G MLS P51811/C294R MLS P51811/E327K MLS O15537/L12H XLRS1 O15537/L13P XLRS1 O15537/C59S XLRS1 O15537/Y65C XLRS1 O15537/G70A XLRS1 O15537/G70S XLRS1 O15537/E72D XLRS1 O15537/E72K XLRS1 O15537/S73P XLRS1 O15537/G74V XLRS1 O15537/Y89C XLRS1 O15537/W96R XLRS1 O15537/A98E XLRS1 O15537/R102Q XLRS1 O15537/R102W XLRS1 O15537/L103R XLRS1 O15537/F108C XLRS1 O15537/G109E XLRS1 O15537/G109R XLRS1 O15537/G109W XLRS1 O15537/C110Y XLRS1 O15537/W112C XLRS1 O15537/L113F XLRS1 O15537/L127P XLRS1 O15537/G135V XLRS1 O15537/I136T XLRS1 O15537/T138A XLRS1 O15537/G140E XLRS1 O15537/G140R XLRS1 O15537/R141C XLRS1 O15537/R141G XLRS1 O15537/R141H XLRS1 O15537/C142W XLRS1 O15537/D143V XLRS1 O15537/D145H XLRS1 O15537/E146D XLRS1 O15537/E146K XLRS1 O15537/Y155C XLRS1 O15537/R156G XLRS1 O15537/W163C XLRS1 O15537/G178D XLRS1 O15537/R182C XLRS1 O15537/P192L XLRS1 O15537/P192R XLRS1 O15537/P192S XLRS1 O15537/P193L XLRS1 O15537/P193S XLRS1 O15537/R197C XLRS1 O15537/R197H XLRS1 O15537/I199T XLRS1 O15537/R200C XLRS1 O15537/R200H XLRS1 O15537/P203L XLRS1 O15537/H207Q XLRS1 O15537/R209C XLRS1 O15537/R209H XLRS1 O15537/R213Q XLRS1 O15537/R213W XLRS1 O15537/E215K XLRS1 O15537/E215Q XLRS1 O15537/L216P XLRS1 O15537/C219G XLRS1 O15537/C219R XLRS1 O15537/C223R XLRS1 P23025/P94L XP-A P23025/C108F XP-A P23025/R130K XP-A P23025/Q185H XP-A P23025/H244R XP-A Q01831/P334H XP-C Q01831/W690S XP-C Q01831/V697VV XP-C Q92889/R153P XFEPS Q92889/I225M XP-F Q92889/L230P FANCQ Q92889/C236R XPF/CS Q92889/R454W XP-F Q92889/R490Q XP-F Q92889/E502K XP-F Q92889/G513R XP-F Q92889/I529T XP-F Q92889/T567A XP-F Q92889/R589W XPF/CS Q92889/L608P XP-F Q92889/R689S FANCQ Q92889/R799W XP-F Q9NQH7/G453C NPHPL1 O43542/T241M CMM6 susceptibility O75695/C67Y RP2 O75695/C86Y RP2 O75695/P95L RP2 O75695/C108G RP2 O75695/C108Y RP2 O75695/R118C RP2 O75695/R118H RP2 O75695/R118L RP2 O75695/E138G RP2 O75695/L188P RP2 O75695/L253R RP2 Q9UM01/T5I LPI Q9UM01/M50K LPI Q9UM01/S53L LPI Q9UM01/G54V LPI Q9UM01/L124P LPI Q9UM01/A140P LPI Q9UM01/F152L LPI Q9UM01/T188I LPI Q9UM01/K191E LPI Q9UM01/S238F LPI Q9UM01/E251D LPI Q9UM01/L261P LPI Q9UM01/R333M LPI Q9UM01/L334R LPI Q9UM01/G338D LPI Q9UM01/N365Y LPI Q9UM01/S386R LPI Q9UM01/S489P LPI P43403/L337R STCD P43403/R465C STCD P43403/R465H STCD P43403/A507V STCD P43403/S518R STCD P43403/K541KLEQ STCD P43403/C564R STCD Q05516/M617V SGYMR O43167/C408G ICF2 Q9H9C3/V63L WRWF Q9H9C3/R198Q WRWF Q9H9C3/P201S WRWF Q9H9C3/R213W WRWF Q9NVL0/R148W MRXSZ Q9NVL0/P150S MRXSZ Q5T968/N78T FECD6 Q5T968/P649A FECD6 Q5T968/Q810P FECD6 Q5T968/Q840P FECD6 Q5T968/A905T FECD6 O60315/R953G MOWS O60315/Q1119R MOWS Q9NU63/R166H TNDM1 Q9NU63/H193N TNDM1 Q9NU63/H374D TNDM1 Q5T4F2/G191V SPG33 O95409/Q36P HPE5 O95409/D37N HPE5 O95409/D128N HPE5 O95409/D152F HPE5 O95409/S272N HPE5 O95409/H286L HPE5 O95409/H286Q HPE5 O95409/H286Y HPE5 O95409/H291Y HPE5 O95409/W304R HPE5 O95409/F314C HPE5 O95409/R325L HPE5 O95409/R325S HPE5 O95409/H327Y HPE5 O95409/C335F HPE5 O95409/R373P HPE5 O95409/Y402N HPE5 O95409/T403K HPE5 O95409/H404R HPE5 O95409/R409W HPE5 O95409/H415Q HPE5 O95409/A470AAAAAAAAAAA HPE5 O60481/A46AAA VACTERLX O60481/P217A CHTD1 O60481/C253S HTX1 O60481/W255G HTX1 O60481/H286R HTX1 O60481/T323M HTX1 O60481/K405E HTX1 Q15928/T474I PAPA6 Q9H4Z2/R1111H MCPH10 Q2M1K9/P913L NPHP14 Q2M1K9/H1277Y JBTS19 Q8N8E2/C339R RP58 Q92610/G1046R SCAR5 Q9ULJ9/I587V MYP21 Q9ULJ9/S672G MYP21 Q9ULJ9/R680G MYP21 Q9ULJ9/C699Y MYP21 Q2M3X9/P412L MRX92 Q9UMV8/P153L MRX89 P51508/S179N MRX45 Q9BRI3/H54R TNZD Q9BRI3/G87R TNZD Q5VXL1/V48A FHCA