Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68431270_68431271delinsAGCA1173557982RPE65c.1338+11_1338+12delinsCT (n.1338+11_1338+12delinsCT)
c.1062+11_1062+12delinsCT (n.1062+11_1062+12delinsCT)
1g.68431271G>ACA2646150126RPE65c.1338+11C>T (n.1338+11C>T)
c.1062+11C>T (n.1062+11C>T)
 gnomAD v4
1g.68431271G>CCA2646150127RPE65c.1338+11C>G (n.1338+11C>G)
c.1062+11C>G (n.1062+11C>G)
 ClinVar gnomAD v4
1g.68431272delCA916200247RPE65c.1338+11del (n.1338+11del)
c.1062+11del (n.1062+11del)
 dbSNP
1g.68431272G>ACA2573132572RPE65c.1338+10C>T (n.1338+10C>T)
c.1062+10C>T (n.1062+10C>T)
 ClinVar dbSNP gnomAD v4
1g.68431272G>TCA2646150128RPE65c.1338+10C>A (n.1338+10C>A)
c.1062+10C>A (n.1062+10C>A)
 gnomAD v4
1g.68431272_68431273insTGTGCCTCCA2744009098RPE65c.1338+9_1338+10insGAGGCACA (n.1338+9_1338+10insGAGGCACA)
c.1062+9_1062+10insGAGGCACA (n.1062+9_1062+10insGAGGCACA)
1g.68431273A>TCA2499214851RPE65c.1338+9T>A (n.1338+9T>A)
c.1062+9T>A (n.1062+9T>A)
 ClinVar dbSNP gnomAD v4
1g.68431274T>CCA902206RPE65c.1338+8A>G (n.1338+8A>G)
c.1062+8A>G (n.1062+8A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431274T=CA1173557983RPE65c.1338+8A= (n.1338+8A=)
c.1062+8A= (n.1062+8A=)
1g.68431274_68431275insCCCTTTCCTGACA2744009099RPE65c.1338+7_1338+8insTCAGGAAAGGG (n.1338+7_1338+8insTCAGGAAAGGG)
c.1062+7_1062+8insTCAGGAAAGGG (n.1062+7_1062+8insTCAGGAAAGGG)
1g.68431275T>CCA2599702911RPE65c.1338+7A>G (n.1338+7A>G)
c.1062+7A>G (n.1062+7A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.68431276A=CA1143801792RPE65c.1338+6T= (n.1338+6T=)
c.1062+6T= (n.1062+6T=)
1g.68431276A>CCA23563982RPE65c.1338+6T>G (n.1338+6T>G)
c.1062+6T>G (n.1062+6T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.68431279T>ACA1139655497RPE65c.1338+3A>T (n.1338+3A>T)
c.1062+3A>T (n.1062+3A>T)
 ClinVar dbSNP gnomAD v4
1g.68431279T>GCA2646150129RPE65c.1338+3A>C (n.1338+3A>C)
c.1062+3A>C (n.1062+3A>C)
 gnomAD v4
1g.68431279T=CA1173557984RPE65c.1338+3A= (n.1338+3A=)
c.1062+3A= (n.1062+3A=)
1g.68431280A>CCA340742349RPE65c.1338+2T>G (n.1338+2T>G)
c.1062+2T>G (n.1062+2T>G)
1g.68431280A>GCA340742350RPE65c.1338+2T>C (n.1338+2T>C)
c.1062+2T>C (n.1062+2T>C)
1g.68431280A>TCA340742351RPE65c.1338+2T>A (n.1338+2T>A)
c.1062+2T>A (n.1062+2T>A)
1g.68431281C>ACA340742352RPE65c.1338+1G>T (n.1338+1G>T)
c.1062+1G>T (n.1062+1G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431281C=CA1173557985RPE65c.1338+1G= (n.1338+1G=)
c.1062+1G= (n.1062+1G=)
1g.68431281C>GCA340742353RPE65c.1338+1G>C (n.1338+1G>C)
c.1062+1G>C (n.1062+1G>C)
1g.68431281C>TCA16043370RPE65c.1338+1G>A (n.1338+1G>A)
c.1062+1G>A (n.1062+1G>A)
 ClinVar dbSNP gnomAD v4
1g.68431282C>ACA340742354RPE65c.1338G>T (p.Arg446Ser)
c.1062G>T (p.Arg354Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431282C=CA1173557986RPE65c.1338G= (p.Arg446=)
c.1062G= (p.Arg354=)
1g.68431282C>GCA340742355RPE65c.1338G>C (p.Arg446Ser)
c.1062G>C (p.Arg354Ser)
1g.68431282C>TCA418277628RPE65c.1338G>A (p.Arg446=)
c.1062G>A (p.Arg354=)
 gnomAD v4
1g.68431283C>ACA340742358RPE65c.1337G>T (p.Arg446Met)
c.1061G>T (p.Arg354Met)
 gnomAD v4
1g.68431283C>GCA340742356RPE65c.1337G>C (p.Arg446Thr)
c.1061G>C (p.Arg354Thr)
1g.68431283C>TCA340742357RPE65c.1337G>A (p.Arg446Lys)
c.1061G>A (p.Arg354Lys)
 gnomAD v4
1g.68431284T>ACA340742359RPE65c.1336A>T (p.Arg446Trp)
c.1060A>T (p.Arg354Trp)
 COSMIC
1g.68431284T>CCA340742360RPE65c.1336A>G (p.Arg446Gly)
c.1060A>G (p.Arg354Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.68431284T>GCA418277636RPE65c.1336A>C (p.Arg446=)
c.1060A>C (p.Arg354=)
1g.68431284T=CA1173557987RPE65c.1336A= (p.Arg446=)
c.1060A= (p.Arg354=)
1g.68431284dupCA2580612187RPE65c.1336dup (p.Arg446LysfsTer4)
c.1060dup (p.Arg354LysfsTer4)
 ClinVar gnomAD v4
1g.68431285A=CA1148378472RPE65c.1335T= (p.Asp445=)
c.1059T= (p.Asp353=)
1g.68431285A>CCA340742361RPE65c.1335T>G (p.Asp445Glu)
c.1059T>G (p.Asp353Glu)
1g.68431285A>GCA902207RPE65c.1335T>C (p.Asp445=)
c.1059T>C (p.Asp353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431285A>TCA340742362RPE65c.1335T>A (p.Asp445Glu)
c.1059T>A (p.Asp353Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.68431286T>ACA340742363RPE65c.1334A>T (p.Asp445Val)
c.1058A>T (p.Asp353Val)
1g.68431286T>CCA340742364RPE65c.1334A>G (p.Asp445Gly)
c.1058A>G (p.Asp353Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68431286T>GCA340742365RPE65c.1334A>C (p.Asp445Ala)
c.1058A>C (p.Asp353Ala)
1g.68431286T=CA1173557988RPE65c.1334A= (p.Asp445=)
c.1058A= (p.Asp353=)
1g.68431287C>ACA340742366RPE65c.1333G>T (p.Asp445Tyr)
c.1057G>T (p.Asp353Tyr)
1g.68431287C>GCA340742367RPE65c.1333G>C (p.Asp445His)
c.1057G>C (p.Asp353His)
 ClinVar COSMIC
1g.68431287C>TCA340742368RPE65c.1333G>A (p.Asp445Asn)
c.1057G>A (p.Asp353Asn)
1g.68431288T>ACA418277647RPE65c.1332A>T (p.Pro444=)
c.1056A>T (p.Pro352=)
1g.68431288T>CCA418277649RPE65c.1332A>G (p.Pro444=)
c.1056A>G (p.Pro352=)
 gnomAD v4
1g.68431288T>GCA418277650RPE65c.1332A>C (p.Pro444=)
c.1056A>C (p.Pro352=)
1g.68431289G>ACA340742371RPE65c.1331C>T (p.Pro444Leu)
c.1055C>T (p.Pro352Leu)
1g.68431289G>CCA340742370RPE65c.1331C>G (p.Pro444Arg)
c.1055C>G (p.Pro352Arg)
1g.68431289G>TCA340742369RPE65c.1331C>A (p.Pro444Gln)
c.1055C>A (p.Pro352Gln)
1g.68431290delCA2574402877RPE65c.1331del (p.Pro444GlnfsTer7)
c.1055del (p.Pro352GlnfsTer7)
1g.68431290G>ACA340742372RPE65c.1330C>T (p.Pro444Ser)
c.1054C>T (p.Pro352Ser)
1g.68431290G>CCA340742373RPE65c.1330C>G (p.Pro444Ala)
c.1054C>G (p.Pro352Ala)
 dbSNP
1g.68431290G=CA1173557989RPE65c.1330C= (p.Pro444=)
c.1054C= (p.Pro352=)
1g.68431290G>TCA340742374RPE65c.1330C>A (p.Pro444Thr)
c.1054C>A (p.Pro352Thr)
1g.68431291A>CCA418277657RPE65c.1329T>G (p.Val443=)
c.1053T>G (p.Val351=)
1g.68431291A>GCA418277658RPE65c.1329T>C (p.Val443=)
c.1053T>C (p.Val351=)
1g.68431291A>TCA418277660RPE65c.1329T>A (p.Val443=)
c.1053T>A (p.Val351=)
1g.68431292A=CA1173557990RPE65c.1328T= (p.Val443=)
c.1052T= (p.Val351=)
1g.68431292A>CCA340742375RPE65c.1328T>G (p.Val443Gly)
c.1052T>G (p.Val351Gly)
1g.68431292A>GCA340742376RPE65c.1328T>C (p.Val443Ala)
c.1052T>C (p.Val351Ala)
 ClinVar dbSNP gnomAD v4
1g.68431292A>TCA340742377RPE65c.1328T>A (p.Val443Asp)
c.1052T>A (p.Val351Asp)
1g.68431293C>ACA340742382RPE65c.1327G>T (p.Val443Phe)
c.1051G>T (p.Val351Phe)
1g.68431293C>GCA340742378RPE65c.1327G>C (p.Val443Leu)
c.1051G>C (p.Val351Leu)
1g.68431293C>TCA340742380RPE65c.1327G>A (p.Val443Ile)
c.1051G>A (p.Val351Ile)
 gnomAD v4
1g.68431294A>CCA340742383RPE65c.1326T>G (p.Phe442Leu)
c.1050T>G (p.Phe350Leu)
1g.68431294A>GCA418277667RPE65c.1326T>C (p.Phe442=)
c.1050T>C (p.Phe350=)
1g.68431294A>TCA340742384RPE65c.1326T>A (p.Phe442Leu)
c.1050T>A (p.Phe350Leu)
1g.68431295A>CCA340742387RPE65c.1325T>G (p.Phe442Cys)
c.1049T>G (p.Phe350Cys)
1g.68431295A>GCA340742389RPE65c.1325T>C (p.Phe442Ser)
c.1049T>C (p.Phe350Ser)
1g.68431295A>TCA340742390RPE65c.1325T>A (p.Phe442Tyr)
c.1049T>A (p.Phe350Tyr)
1g.68431296A>CCA340742394RPE65c.1324T>G (p.Phe442Val)
c.1048T>G (p.Phe350Val)
1g.68431296A>GCA340742391RPE65c.1324T>C (p.Phe442Leu)
c.1048T>C (p.Phe350Leu)
1g.68431296A>TCA340742392RPE65c.1324T>A (p.Phe442Ile)
c.1048T>A (p.Phe350Ile)
1g.68431297G>ACA418277674RPE65c.1323C>T (p.His441=)
c.1047C>T (p.His349=)
 dbSNP gnomAD v2 gnomAD v4
1g.68431297G>CCA340742395RPE65c.1323C>G (p.His441Gln)
c.1047C>G (p.His349Gln)
1g.68431297G=CA1173557991RPE65c.1323C= (p.His441=)
c.1047C= (p.His349=)
1g.68431297G>TCA340742397RPE65c.1323C>A (p.His441Gln)
c.1047C>A (p.His349Gln)
1g.68431298T>ACA340742400RPE65c.1322A>T (p.His441Leu)
c.1046A>T (p.His349Leu)
1g.68431298T>CCA340742401RPE65c.1322A>G (p.His441Arg)
c.1046A>G (p.His349Arg)
 ClinVar dbSNP gnomAD v4
1g.68431298T>GCA340742402RPE65c.1322A>C (p.His441Pro)
c.1046A>C (p.His349Pro)
1g.68431298T=CA1173557992RPE65c.1322A= (p.His441=)
c.1046A= (p.His349=)
1g.68431299G>ACA340742405RPE65c.1321C>T (p.His441Tyr)
c.1045C>T (p.His349Tyr)
1g.68431299G>CCA340742406RPE65c.1321C>G (p.His441Asp)
c.1045C>G (p.His349Asp)
1g.68431299G=CA1173557993RPE65c.1321C= (p.His441=)
c.1045C= (p.His349=)
1g.68431299G>TCA902208RPE65c.1321C>A (p.His441Asn)
c.1045C>A (p.His349Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.68431300A>CCA340742409RPE65c.1320T>G (p.Asn440Lys)
c.1044T>G (p.Asn348Lys)
1g.68431300A>GCA418277683RPE65c.1320T>C (p.Asn440=)
c.1044T>C (p.Asn348=)
1g.68431300A>TCA340742411RPE65c.1320T>A (p.Asn440Lys)
c.1044T>A (p.Asn348Lys)
1g.68431301T>ACA340742413RPE65c.1319A>T (p.Asn440Ile)
c.1043A>T (p.Asn348Ile)
 gnomAD v4
1g.68431301T>CCA340742415RPE65c.1319A>G (p.Asn440Ser)
c.1043A>G (p.Asn348Ser)
1g.68431301T>GCA340742417RPE65c.1319A>C (p.Asn440Thr)
c.1043A>C (p.Asn348Thr)
1g.68431302T>ACA340742419RPE65c.1318A>T (p.Asn440Tyr)
c.1042A>T (p.Asn348Tyr)
1g.68431302T>CCA340742422RPE65c.1318A>G (p.Asn440Asp)
c.1042A>G (p.Asn348Asp)
1g.68431302T>GCA340742420RPE65c.1318A>C (p.Asn440His)
c.1042A>C (p.Asn348His)
1g.68431303C>ACA340742424RPE65c.1317G>T (p.Leu439Phe)
c.1041G>T (p.Leu347Phe)
 gnomAD v4
1g.68431303C>GCA340742426RPE65c.1317G>C (p.Leu439Phe)
c.1041G>C (p.Leu347Phe)
1g.68431303C>TCA418277688RPE65c.1317G>A (p.Leu439=)
c.1041G>A (p.Leu347=)
 gnomAD v4
1g.68431304A>CCA340742428RPE65c.1316T>G (p.Leu439Trp)
c.1040T>G (p.Leu347Trp)
1g.68431304A>GCA340742430RPE65c.1316T>C (p.Leu439Ser)
c.1040T>C (p.Leu347Ser)
1g.68431304A>TCA340742432RPE65c.1316T>A (p.Leu439Ter)
c.1040T>A (p.Leu347Ter)
1g.68431305A>CCA340742433RPE65c.1315T>G (p.Leu439Val)
c.1039T>G (p.Leu347Val)
1g.68431305A>GCA418277695RPE65c.1315T>C (p.Leu439=)
c.1039T>C (p.Leu347=)
1g.68431305A>TCA340742435RPE65c.1315T>A (p.Leu439Met)
c.1039T>A (p.Leu347Met)
1g.68431306G>ACA418277700RPE65c.1314C>T (p.Gly438=)
c.1038C>T (p.Gly346=)
1g.68431306G>CCA418277702RPE65c.1314C>G (p.Gly438=)
c.1038C>G (p.Gly346=)
1g.68431306G>TCA418277698RPE65c.1314C>A (p.Gly438=)
c.1038C>A (p.Gly346=)
 ClinVar
1g.68431307C>ACA340742437RPE65c.1313G>T (p.Gly438Val)
c.1037G>T (p.Gly346Val)
1g.68431307C>GCA340742438RPE65c.1313G>C (p.Gly438Ala)
c.1037G>C (p.Gly346Ala)
1g.68431307C>TCA340742439RPE65c.1313G>A (p.Gly438Asp)
c.1037G>A (p.Gly346Asp)
1g.68431308C>ACA340742441RPE65c.1312G>T (p.Gly438Cys)
c.1036G>T (p.Gly346Cys)
1g.68431308C>GCA340742443RPE65c.1312G>C (p.Gly438Arg)
c.1036G>C (p.Gly346Arg)
1g.68431308C>TCA340742444RPE65c.1312G>A (p.Gly438Ser)
c.1036G>A (p.Gly346Ser)
1g.68431309A>CCA418277710RPE65c.1311T>G (p.Leu437=)
c.1035T>G (p.Leu345=)
1g.68431309A>GCA418277708RPE65c.1311T>C (p.Leu437=)
c.1035T>C (p.Leu345=)
1g.68431309A>TCA418277709RPE65c.1311T>A (p.Leu437=)
c.1035T>A (p.Leu345=)
1g.68431310A>CCA340742446RPE65c.1310T>G (p.Leu437Arg)
c.1034T>G (p.Leu345Arg)
1g.68431310A>GCA340742450RPE65c.1310T>C (p.Leu437Pro)
c.1034T>C (p.Leu345Pro)
1g.68431310A>TCA340742448RPE65c.1310T>A (p.Leu437His)
c.1034T>A (p.Leu345His)
1g.68431311G>ACA340742451RPE65c.1309C>T (p.Leu437Phe)
c.1033C>T (p.Leu345Phe)
 ClinVar dbSNP
1g.68431311G>CCA340742452RPE65c.1309C>G (p.Leu437Val)
c.1033C>G (p.Leu345Val)
1g.68431311G=CA1173557994RPE65c.1309C= (p.Leu437=)
c.1033C= (p.Leu345=)
1g.68431311G>TCA340742454RPE65c.1309C>A (p.Leu437Ile)
c.1033C>A (p.Leu345Ile)
 dbSNP
1g.68431312T>ACA418277718RPE65c.1308A>T (p.Gly436=)
c.1032A>T (p.Gly344=)
1g.68431312T>CCA418277720RPE65c.1308A>G (p.Gly436=)
c.1032A>G (p.Gly344=)
1g.68431312T>GCA418277719RPE65c.1308A>C (p.Gly436=)
c.1032A>C (p.Gly344=)
1g.68431313C>ACA226505RPE65c.1307G>T (p.Gly436Val)
c.1031G>T (p.Gly344Val)
 ClinVar dbSNP
1g.68431313C=CA1140762637RPE65c.1307G= (p.Gly436=)
c.1031G= (p.Gly344=)
1g.68431313C>GCA340742457RPE65c.1307G>C (p.Gly436Ala)
c.1031G>C (p.Gly344Ala)
1g.68431313C>TCA340742458RPE65c.1307G>A (p.Gly436Glu)
c.1031G>A (p.Gly344Glu)
 ClinVar dbSNP gnomAD v4
1g.68431314C>ACA340742461RPE65c.1306G>T (p.Gly436Ter)
c.1030G>T (p.Gly344Ter)
1g.68431314C>GCA340742463RPE65c.1306G>C (p.Gly436Arg)
c.1030G>C (p.Gly344Arg)
1g.68431314C>TCA340742464RPE65c.1306G>A (p.Gly436Arg)
c.1030G>A (p.Gly344Arg)
 ClinVar dbSNP
1g.68431315A>CCA340742467RPE65c.1305T>G (p.Tyr435Ter)
c.1029T>G (p.Tyr343Ter)
1g.68431315A>GCA418277725RPE65c.1305T>C (p.Tyr435=)
c.1029T>C (p.Tyr343=)
 ClinVar
1g.68431315A>TCA340742468RPE65c.1305T>A (p.Tyr435Ter)
c.1029T>A (p.Tyr343Ter)
1g.68431316T>ACA340742472RPE65c.1304A>T (p.Tyr435Phe)
c.1028A>T (p.Tyr343Phe)
1g.68431316T>CCA226504RPE65c.1304A>G (p.Tyr435Cys)
c.1028A>G (p.Tyr343Cys)
 ClinVar dbSNP
1g.68431316T>GCA340742470RPE65c.1304A>C (p.Tyr435Ser)
c.1028A>C (p.Tyr343Ser)
1g.68431316T=CA1140762638RPE65c.1304A= (p.Tyr435=)
c.1028A= (p.Tyr343=)
1g.68431317A=CA1173557995RPE65c.1303T= (p.Tyr435=)
c.1027T= (p.Tyr343=)
1g.68431317A>CCA340742475RPE65c.1303T>G (p.Tyr435Asp)
c.1027T>G (p.Tyr343Asp)
1g.68431317A>GCA340742479RPE65c.1303T>C (p.Tyr435His)
c.1027T>C (p.Tyr343His)
 dbSNP gnomAD v4
1g.68431317A>TCA340742477RPE65c.1303T>A (p.Tyr435Asn)
c.1027T>A (p.Tyr343Asn)
1g.68431319_68431340delCA2580063208RPE65c.1282_1303del (p.Gly428MetfsTer5)
c.1006_1027del (p.Gly336MetfsTer5)
 ClinVar
1g.68431318C>ACA902210RPE65c.1302G>T (p.Ala434=)
c.1026G>T (p.Ala342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431318C=CA1140762640RPE65c.1302G= (p.Ala434=)
c.1026G= (p.Ala342=)
1g.68431318C>GCA226502RPE65c.1302G>C (p.Ala434=)
c.1026G>C (p.Ala342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431318C>TCA902209RPE65c.1302G>A (p.Ala434=)
c.1026G>A (p.Ala342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431319G>ACA226501RPE65c.1301C>T (p.Ala434Val)
c.1025C>T (p.Ala342Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431319G>CCA340742485RPE65c.1301C>G (p.Ala434Gly)
c.1025C>G (p.Ala342Gly)
1g.68431319G=CA1140529781RPE65c.1301C= (p.Ala434=)
c.1025C= (p.Ala342=)
1g.68431319G>TCA340742486RPE65c.1301C>A (p.Ala434Glu)
c.1025C>A (p.Ala342Glu)
 ClinVar dbSNP gnomAD v4
1g.68431320C>ACA340742489RPE65c.1300G>T (p.Ala434Ser)
c.1024G>T (p.Ala342Ser)
1g.68431320C>GCA340742491RPE65c.1300G>C (p.Ala434Pro)
c.1024G>C (p.Ala342Pro)
 dbSNP
1g.68431320C>TCA340742492RPE65c.1300G>A (p.Ala434Thr)
c.1024G>A (p.Ala342Thr)
1g.68431321delCA2646150140RPE65c.1299del (p.Tyr433Ter)
c.1023del (p.Tyr341Ter)
 gnomAD v4
1g.68431321A=CA1173557996RPE65c.1299T= (p.Tyr433=)
c.1023T= (p.Tyr341=)
1g.68431321A>CCA340742498RPE65c.1299T>G (p.Tyr433Ter)
c.1023T>G (p.Tyr341Ter)
1g.68431321A>GCA902211RPE65c.1299T>C (p.Tyr433=)
c.1023T>C (p.Tyr341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431321A>TCA340742495RPE65c.1299T>A (p.Tyr433Ter)
c.1023T>A (p.Tyr341Ter)
 ClinVar
1g.68431322T>ACA340742500RPE65c.1298A>T (p.Tyr433Phe)
c.1022A>T (p.Tyr341Phe)
1g.68431322T>CCA902212RPE65c.1298A>G (p.Tyr433Cys)
c.1022A>G (p.Tyr341Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431322T>GCA340742502RPE65c.1298A>C (p.Tyr433Ser)
c.1022A>C (p.Tyr341Ser)
1g.68431322T=CA1142163535RPE65c.1298A= (p.Tyr433=)
c.1022A= (p.Tyr341=)
1g.68431323A=CA1173557997RPE65c.1297T= (p.Tyr433=)
c.1021T= (p.Tyr341=)
1g.68431323A>CCA340742505RPE65c.1297T>G (p.Tyr433Asp)
c.1021T>G (p.Tyr341Asp)
1g.68431323A>GCA902214RPE65c.1297T>C (p.Tyr433His)
c.1021T>C (p.Tyr341His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431323A>TCA902213RPE65c.1297T>A (p.Tyr433Asn)
c.1021T>A (p.Tyr341Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431324T>ACA418277753RPE65c.1296A>T (p.Thr432=)
c.1020A>T (p.Thr340=)
1g.68431324T>CCA418277754RPE65c.1296A>G (p.Thr432=)
c.1020A>G (p.Thr340=)
1g.68431324T>GCA418277757RPE65c.1296A>C (p.Thr432=)
c.1020A>C (p.Thr340=)
1g.68431325G>ACA340742509RPE65c.1295C>T (p.Thr432Ile)
c.1019C>T (p.Thr340Ile)
 dbSNP gnomAD v4
1g.68431325G>CCA340742512RPE65c.1295C>G (p.Thr432Arg)
c.1019C>G (p.Thr340Arg)
1g.68431325G=CA1173557998RPE65c.1295C= (p.Thr432=)
c.1019C= (p.Thr340=)
1g.68431325G>TCA340742511RPE65c.1295C>A (p.Thr432Lys)
c.1019C>A (p.Thr340Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.68431326T>ACA340742515RPE65c.1294A>T (p.Thr432Ser)
c.1018A>T (p.Thr340Ser)
 ClinVar dbSNP gnomAD v4
1g.68431326T>CCA340742517RPE65c.1294A>G (p.Thr432Ala)
c.1018A>G (p.Thr340Ala)
1g.68431326T>GCA340742518RPE65c.1294A>C (p.Thr432Pro)
c.1018A>C (p.Thr340Pro)
 ClinVar dbSNP
1g.68431326T=CA1173557999RPE65c.1294A= (p.Thr432=)
c.1018A= (p.Thr340=)
1g.68431327G>ACA418277761RPE65c.1293C>T (p.Tyr431=)
c.1017C>T (p.Tyr339=)
1g.68431327G>CCA340742520RPE65c.1293C>G (p.Tyr431Ter)
c.1017C>G (p.Tyr339Ter)
1g.68431327G=CA1173558000RPE65c.1293C= (p.Tyr431=)
c.1017C= (p.Tyr339=)
1g.68431327G>TCA340742522RPE65c.1293C>A (p.Tyr431Ter)
c.1017C>A (p.Tyr339Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68431328T>ACA340742524RPE65c.1292A>T (p.Tyr431Phe)
c.1016A>T (p.Tyr339Phe)
1g.68431328T>CCA226500RPE65c.1292A>G (p.Tyr431Cys)
c.1016A>G (p.Tyr339Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431328T>GCA340742527RPE65c.1292A>C (p.Tyr431Ser)
c.1016A>C (p.Tyr339Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.68431328T=CA1140762641RPE65c.1292A= (p.Tyr431=)
c.1016A= (p.Tyr339=)
1g.68431329A=CA1173558001RPE65c.1291T= (p.Tyr431=)
c.1015T= (p.Tyr339=)
1g.68431329A>CCA340742529RPE65c.1291T>G (p.Tyr431Asp)
c.1015T>G (p.Tyr339Asp)
1g.68431329A>GCA23564019RPE65c.1291T>C (p.Tyr431His)
c.1015T>C (p.Tyr339His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431329A>TCA340742532RPE65c.1291T>A (p.Tyr431Asn)
c.1015T>A (p.Tyr339Asn)
1g.68431330A=CA1173558002RPE65c.1290T= (p.Pro430=)
c.1014T= (p.Pro338=)
1g.68431330A>CCA418277769RPE65c.1290T>G (p.Pro430=)
c.1014T>G (p.Pro338=)
1g.68431330A>GCA23564021RPE65c.1290T>C (p.Pro430=)
c.1014T>C (p.Pro338=)
 dbSNP
1g.68431330A>TCA418277771RPE65c.1290T>A (p.Pro430=)
c.1014T>A (p.Pro338=)
1g.68431331G>ACA340742535RPE65c.1289C>T (p.Pro430Leu)
c.1013C>T (p.Pro338Leu)
1g.68431331G>CCA340742537RPE65c.1289C>G (p.Pro430Arg)
c.1013C>G (p.Pro338Arg)
 COSMIC
1g.68431331G=CA1173558003RPE65c.1289C= (p.Pro430=)
c.1013C= (p.Pro338=)
1g.68431331G>TCA902215RPE65c.1289C>A (p.Pro430His)
c.1013C>A (p.Pro338His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68431332G>ACA902216RPE65c.1288C>T (p.Pro430Ser)
c.1012C>T (p.Pro338Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431332G>CCA340742540RPE65c.1288C>G (p.Pro430Ala)
c.1012C>G (p.Pro338Ala)
1g.68431332G=CA1173558004RPE65c.1288C= (p.Pro430=)
c.1012C= (p.Pro338=)
1g.68431332G>TCA340742541RPE65c.1288C>A (p.Pro430Thr)
c.1012C>A (p.Pro338Thr)
 gnomAD v4
1g.68431333T>ACA340742543RPE65c.1287A>T (p.Lys429Asn)
c.1011A>T (p.Lys337Asn)
1g.68431333T>CCA418277778RPE65c.1287A>G (p.Lys429=)
c.1011A>G (p.Lys337=)
1g.68431333T>GCA340742545RPE65c.1287A>C (p.Lys429Asn)
c.1011A>C (p.Lys337Asn)
1g.68431334T>ACA340742547RPE65c.1286A>T (p.Lys429Ile)
c.1010A>T (p.Lys337Ile)
1g.68431334T>CCA340742548RPE65c.1286A>G (p.Lys429Arg)
c.1010A>G (p.Lys337Arg)
1g.68431334T>GCA340742550RPE65c.1286A>C (p.Lys429Thr)
c.1010A>C (p.Lys337Thr)
1g.68431335T>ACA340742552RPE65c.1285A>T (p.Lys429Ter)
c.1009A>T (p.Lys337Ter)
1g.68431335T>CCA340742553RPE65c.1285A>G (p.Lys429Glu)
c.1009A>G (p.Lys337Glu)
1g.68431335T>GCA340742555RPE65c.1285A>C (p.Lys429Gln)
c.1009A>C (p.Lys337Gln)
1g.68431336C>ACA418277784RPE65c.1284G>T (p.Gly428=)
c.1008G>T (p.Gly336=)
 gnomAD v4
1g.68431336C>GCA418277786RPE65c.1284G>C (p.Gly428=)
c.1008G>C (p.Gly336=)
1g.68431336C>TCA418277787RPE65c.1284G>A (p.Gly428=)
c.1008G>A (p.Gly336=)
1g.68431337C>ACA340742560RPE65c.1283G>T (p.Gly428Val)
c.1007G>T (p.Gly336Val)
1g.68431337C>GCA340742558RPE65c.1283G>C (p.Gly428Ala)
c.1007G>C (p.Gly336Ala)
1g.68431337C>TCA340742557RPE65c.1283G>A (p.Gly428Glu)
c.1007G>A (p.Gly336Glu)
1g.68431338C>ACA340742562RPE65c.1282G>T (p.Gly428Trp)
c.1006G>T (p.Gly336Trp)
 ClinVar dbSNP
1g.68431338C>GCA340742563RPE65c.1282G>C (p.Gly428Arg)
c.1006G>C (p.Gly336Arg)
1g.68431338C>TCA340742565RPE65c.1282G>A (p.Gly428Arg)
c.1006G>A (p.Gly336Arg)
1g.68431339A=CA1144145618RPE65c.1281T= (p.Cys427=)
c.1005T= (p.Cys335=)
1g.68431339A>CCA340742566RPE65c.1281T>G (p.Cys427Trp)
c.1005T>G (p.Cys335Trp)
 gnomAD v4
1g.68431339A>GCA902217RPE65c.1281T>C (p.Cys427=)
c.1005T>C (p.Cys335=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431339A>TCA340742568RPE65c.1281T>A (p.Cys427Ter)
c.1005T>A (p.Cys335Ter)
1g.68431340C>ACA340742571RPE65c.1280G>T (p.Cys427Phe)
c.1004G>T (p.Cys335Phe)
1g.68431340C>GCA340742573RPE65c.1280G>C (p.Cys427Ser)
c.1004G>C (p.Cys335Ser)
1g.68431340C>TCA340742574RPE65c.1280G>A (p.Cys427Tyr)
c.1004G>A (p.Cys335Tyr)
1g.68431341A=CA1173558005RPE65c.1279T= (p.Cys427=)
c.1003T= (p.Cys335=)
1g.68431341A>CCA340742576RPE65c.1279T>G (p.Cys427Gly)
c.1003T>G (p.Cys335Gly)
 dbSNP
1g.68431341A>GCA340742578RPE65c.1279T>C (p.Cys427Arg)
c.1003T>C (p.Cys335Arg)
 dbSNP gnomAD v4
1g.68431341A>TCA340742579RPE65c.1279T>A (p.Cys427Ser)
c.1003T>A (p.Cys335Ser)
1g.68431342A>CCA340742581RPE65c.1278T>G (p.Tyr426Ter)
c.1002T>G (p.Tyr334Ter)
1g.68431342A>GCA418277795RPE65c.1278T>C (p.Tyr426=)
c.1002T>C (p.Tyr334=)
 ClinVar gnomAD v4
1g.68431342A>TCA340742582RPE65c.1278T>A (p.Tyr426Ter)
c.1002T>A (p.Tyr334Ter)
 gnomAD v4
1g.68431343T>ACA340742585RPE65c.1277A>T (p.Tyr426Phe)
c.1001A>T (p.Tyr334Phe)
1g.68431343T>CCA340742588RPE65c.1277A>G (p.Tyr426Cys)
c.1001A>G (p.Tyr334Cys)
1g.68431343T>GCA340742587RPE65c.1277A>C (p.Tyr426Ser)
c.1001A>C (p.Tyr334Ser)
1g.68431344A>CCA340742591RPE65c.1276T>G (p.Tyr426Asp)
c.1000T>G (p.Tyr334Asp)
1g.68431344A>GCA340742592RPE65c.1276T>C (p.Tyr426His)
c.1000T>C (p.Tyr334His)
1g.68431344A>TCA340742593RPE65c.1276T>A (p.Tyr426Asn)
c.1000T>A (p.Tyr334Asn)
1g.68431345C>ACA340742594RPE65c.1275G>T (p.Lys425Asn)
c.999G>T (p.Lys333Asn)
1g.68431345C>GCA340742596RPE65c.1275G>C (p.Lys425Asn)
c.999G>C (p.Lys333Asn)
1g.68431345C>TCA418277802RPE65c.1275G>A (p.Lys425=)
c.999G>A (p.Lys333=)
1g.68431346T>ACA340742598RPE65c.1274A>T (p.Lys425Met)
c.998A>T (p.Lys333Met)
 dbSNP gnomAD v2
1g.68431346T>CCA902218RPE65c.1274A>G (p.Lys425Arg)
c.998A>G (p.Lys333Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431346T>GCA340742599RPE65c.1274A>C (p.Lys425Thr)
c.998A>C (p.Lys333Thr)
1g.68431346T=CA1173558006RPE65c.1274A= (p.Lys425=)
c.998A= (p.Lys333=)
1g.68431347T>ACA340742601RPE65c.1273A>T (p.Lys425Ter)
c.997A>T (p.Lys333Ter)
1g.68431347T>CCA340742603RPE65c.1273A>G (p.Lys425Glu)
c.997A>G (p.Lys333Glu)
1g.68431347T>GCA340742605RPE65c.1273A>C (p.Lys425Gln)
c.997A>C (p.Lys333Gln)
1g.68431348C>ACA340742609RPE65c.1272G>T (p.Gln424His)
c.996G>T (p.Gln332His)
1g.68431348C>GCA340742607RPE65c.1272G>C (p.Gln424His)
c.996G>C (p.Gln332His)
1g.68431348C>TCA418277810RPE65c.1272G>A (p.Gln424=)
c.996G>A (p.Gln332=)
1g.68431349T>ACA340742611RPE65c.1271A>T (p.Gln424Leu)
c.995A>T (p.Gln332Leu)
1g.68431349T>CCA340742612RPE65c.1271A>G (p.Gln424Arg)
c.995A>G (p.Gln332Arg)
 dbSNP gnomAD v4
1g.68431349T>GCA902219RPE65c.1271A>C (p.Gln424Pro)
c.995A>C (p.Gln332Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431349T=CA1173558007RPE65c.1271A= (p.Gln424=)
c.995A= (p.Gln332=)
1g.68431349_68431350delinsTGCA1173558008RPE65c.1270_1271delinsCA (p.Gln424=)
c.994_995delinsCA (p.Gln332=)
1g.68431350G>ACA340742614RPE65c.1270C>T (p.Gln424Ter)
c.994C>T (p.Gln332Ter)
 COSMIC
1g.68431350G>CCA340742615RPE65c.1270C>G (p.Gln424Glu)
c.994C>G (p.Gln332Glu)
 gnomAD v4
1g.68431350G>TCA340742617RPE65c.1270C>A (p.Gln424Lys)
c.994C>A (p.Gln332Lys)
1g.68431351delCA1173558009RPE65c.1270del (p.Gln424ArgfsTer16)
c.994del (p.Gln332ArgfsTer16)
1g.68431351G>ACA418277816RPE65c.1269C>T (p.Tyr423=)
c.993C>T (p.Tyr331=)
 ClinVar dbSNP
1g.68431351G>CCA340742619RPE65c.1269C>G (p.Tyr423Ter)
c.993C>G (p.Tyr331Ter)
1g.68431351G=CA1173558010RPE65c.1269C= (p.Tyr423=)
c.993C= (p.Tyr331=)
1g.68431351G>TCA340742621RPE65c.1269C>A (p.Tyr423Ter)
c.993C>A (p.Tyr331Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431352T>ACA340742623RPE65c.1268A>T (p.Tyr423Phe)
c.992A>T (p.Tyr331Phe)
1g.68431352T>CCA340742624RPE65c.1268A>G (p.Tyr423Cys)
c.992A>G (p.Tyr331Cys)
 gnomAD v4
1g.68431352T>GCA340742626RPE65c.1268A>C (p.Tyr423Ser)
c.992A>C (p.Tyr331Ser)
1g.68431353A>CCA340742630RPE65c.1267T>G (p.Tyr423Asp)
c.991T>G (p.Tyr331Asp)
1g.68431353A>GCA340742632RPE65c.1267T>C (p.Tyr423His)
c.991T>C (p.Tyr331His)
1g.68431353A>TCA340742628RPE65c.1267T>A (p.Tyr423Asn)
c.991T>A (p.Tyr331Asn)
1g.68431354A>CCA340742633RPE65c.1266T>G (p.Asn422Lys)
c.990T>G (p.Asn330Lys)
1g.68431354A>GCA418277824RPE65c.1266T>C (p.Asn422=)
c.990T>C (p.Asn330=)
1g.68431354A>TCA340742635RPE65c.1266T>A (p.Asn422Lys)
c.990T>A (p.Asn330Lys)
1g.68431355T>ACA340742637RPE65c.1265A>T (p.Asn422Ile)
c.989A>T (p.Asn330Ile)
1g.68431355T>CCA902220RPE65c.1265A>G (p.Asn422Ser)
c.989A>G (p.Asn330Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431355T>GCA340742639RPE65c.1265A>C (p.Asn422Thr)
c.989A>C (p.Asn330Thr)
1g.68431355T=CA1173558011RPE65c.1265A= (p.Asn422=)
c.989A= (p.Asn330=)
1g.68431356T>ACA340742640RPE65c.1264A>T (p.Asn422Tyr)
c.988A>T (p.Asn330Tyr)
1g.68431356T>CCA340742641RPE65c.1264A>G (p.Asn422Asp)
c.988A>G (p.Asn330Asp)
1g.68431356T>GCA340742643RPE65c.1264A>C (p.Asn422His)
c.988A>C (p.Asn330His)
 gnomAD v4
1g.68431357G>ACA418277830RPE65c.1263C>T (p.Ile421=)
c.987C>T (p.Ile329=)
1g.68431357G>CCA340742645RPE65c.1263C>G (p.Ile421Met)
c.987C>G (p.Ile329Met)
1g.68431357G>TCA418277833RPE65c.1263C>A (p.Ile421=)
c.987C>A (p.Ile329=)
1g.68431358A>CCA340742647RPE65c.1262T>G (p.Ile421Ser)
c.986T>G (p.Ile329Ser)
1g.68431358A>GCA340742648RPE65c.1262T>C (p.Ile421Thr)
c.986T>C (p.Ile329Thr)
1g.68431358A>TCA340742650RPE65c.1262T>A (p.Ile421Asn)
c.986T>A (p.Ile329Asn)
1g.68431359T>ACA340742654RPE65c.1261A>T (p.Ile421Phe)
c.985A>T (p.Ile329Phe)
1g.68431359T>CCA340742655RPE65c.1261A>G (p.Ile421Val)
c.985A>G (p.Ile329Val)
1g.68431359T>GCA340742652RPE65c.1261A>C (p.Ile421Leu)
c.985A>C (p.Ile329Leu)
1g.68431360T>ACA340742657RPE65c.1260A>T (p.Gln420His)
c.984A>T (p.Gln328His)
1g.68431360T>CCA418277839RPE65c.1260A>G (p.Gln420=)
c.984A>G (p.Gln328=)
1g.68431360T>GCA340742658RPE65c.1260A>C (p.Gln420His)
c.984A>C (p.Gln328His)
 dbSNP
1g.68431360T=CA1173558012RPE65c.1260A= (p.Gln420=)
c.984A= (p.Gln328=)
1g.68431361T>ACA902221RPE65c.1259A>T (p.Gln420Leu)
c.983A>T (p.Gln328Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431361T>CCA340742659RPE65c.1259A>G (p.Gln420Arg)
c.983A>G (p.Gln328Arg)
1g.68431361T>GCA340742660RPE65c.1259A>C (p.Gln420Pro)
c.983A>C (p.Gln328Pro)
1g.68431361T=CA1173558013RPE65c.1259A= (p.Gln420=)
c.983A= (p.Gln328=)
1g.68431362G>ACA340742666RPE65c.1258C>T (p.Gln420Ter)
c.982C>T (p.Gln328Ter)
1g.68431362G>CCA340742661RPE65c.1258C>G (p.Gln420Glu)
c.982C>G (p.Gln328Glu)
1g.68431362G>TCA340742664RPE65c.1258C>A (p.Gln420Lys)
c.982C>A (p.Gln328Lys)
1g.68431363A>CCA418278131RPE65c.1257T>G (p.Pro419=)
c.981T>G (p.Pro327=)
1g.68431363A>GCA418278132RPE65c.1257T>C (p.Pro419=)
c.981T>C (p.Pro327=)
1g.68431363A>TCA418278133RPE65c.1257T>A (p.Pro419=)
c.981T>A (p.Pro327=)
1g.68431364G>ACA340742668RPE65c.1256C>T (p.Pro419Leu)
c.980C>T (p.Pro327Leu)
1g.68431364G>CCA340742669RPE65c.1256C>G (p.Pro419Arg)
c.980C>G (p.Pro327Arg)
1g.68431364G>TCA340742670RPE65c.1256C>A (p.Pro419His)
c.980C>A (p.Pro327His)
1g.68431365G>ACA340742672RPE65c.1255C>T (p.Pro419Ser)
c.979C>T (p.Pro327Ser)
1g.68431365G>CCA340742674RPE65c.1255C>G (p.Pro419Ala)
c.979C>G (p.Pro327Ala)
1g.68431365G>TCA340742675RPE65c.1255C>A (p.Pro419Thr)
c.979C>A (p.Pro327Thr)
1g.68431366A=CA1173558014RPE65c.1254T= (p.Phe418=)
c.978T= (p.Phe326=)
1g.68431366A>CCA340742677RPE65c.1254T>G (p.Phe418Leu)
c.978T>G (p.Phe326Leu)
1g.68431366A>GCA418278140RPE65c.1254T>C (p.Phe418=)
c.978T>C (p.Phe326=)
 ClinVar dbSNP
1g.68431366A>TCA902222RPE65c.1254T>A (p.Phe418Leu)
c.978T>A (p.Phe326Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68431367A>CCA340742680RPE65c.1253T>G (p.Phe418Cys)
c.977T>G (p.Phe326Cys)
 gnomAD v4
1g.68431367A>GCA340742684RPE65c.1253T>C (p.Phe418Ser)
c.977T>C (p.Phe326Ser)
1g.68431367A>TCA340742683RPE65c.1253T>A (p.Phe418Tyr)
c.977T>A (p.Phe326Tyr)
 ClinVar
1g.68431368A>CCA340742687RPE65c.1252T>G (p.Phe418Val)
c.976T>G (p.Phe326Val)
1g.68431368A>GCA340742690RPE65c.1252T>C (p.Phe418Leu)
c.976T>C (p.Phe326Leu)
1g.68431368A>TCA340742689RPE65c.1252T>A (p.Phe418Ile)
c.976T>A (p.Phe326Ile)
1g.68431369C>ACA340742692RPE65c.1251G>T (p.Glu417Asp)
c.975G>T (p.Glu325Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.68431369C=CA1173558015RPE65c.1251G= (p.Glu417=)
c.975G= (p.Glu325=)
1g.68431369C>GCA340742695RPE65c.1251G>C (p.Glu417Asp)
c.975G>C (p.Glu325Asp)
 dbSNP gnomAD v4
1g.68431369C>TCA418278150RPE65c.1251G>A (p.Glu417=)
c.975G>A (p.Glu325=)
 ClinVar dbSNP gnomAD v4
1g.68431370T>ACA340742699RPE65c.1250A>T (p.Glu417Val)
c.974A>T (p.Glu325Val)
 gnomAD v4
1g.68431370T>CCA340742706RPE65c.1250A>G (p.Glu417Gly)
c.974A>G (p.Glu325Gly)
 ClinVar gnomAD v4
1g.68431370T>GCA340742707RPE65c.1250A>C (p.Glu417Ala)
c.974A>C (p.Glu325Ala)
1g.68431371C>ACA340742709RPE65c.1249G>T (p.Glu417Ter)
c.973G>T (p.Glu325Ter)
1g.68431371C=CA1140762643RPE65c.1249G= (p.Glu417=)
c.973G= (p.Glu325=)
1g.68431371C>GCA226499RPE65c.1249G>C (p.Glu417Gln)
c.973G>C (p.Glu325Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431371C>TCA340742711RPE65c.1249G>A (p.Glu417Lys)
c.973G>A (p.Glu325Lys)

Number of alleles fetched