Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68431239_68431240insGCA2518422143RPE65c.1338+42_1338+43insC (n.1338+42_1338+43insC)
c.1062+42_1062+43insC (n.1062+42_1062+43insC)
1g.68431240A>GCA2646150114RPE65c.1338+42T>C (n.1338+42T>C)
c.1062+42T>C (n.1062+42T>C)
 gnomAD v4
1g.68431241C>ACA1173557971RPE65c.1338+41G>T (n.1338+41G>T)
c.1062+41G>T (n.1062+41G>T)
 dbSNP
1g.68431241C=CA1173557970RPE65c.1338+41G= (n.1338+41G=)
c.1062+41G= (n.1062+41G=)
1g.68431241C>TCA646107208RPE65c.1338+41G>A (n.1338+41G>A)
c.1062+41G>A (n.1062+41G>A)
 COSMIC
1g.68431242T>ACA2744009093RPE65c.1338+40A>T (n.1338+40A>T)
c.1062+40A>T (n.1062+40A>T)
1g.68431242T>CCA523749721RPE65c.1338+40A>G (n.1338+40A>G)
c.1062+40A>G (n.1062+40A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431242T=CA1173557972RPE65c.1338+40A= (n.1338+40A=)
c.1062+40A= (n.1062+40A=)
1g.68431243C>ACA523749722RPE65c.1338+39G>T (n.1338+39G>T)
c.1062+39G>T (n.1062+39G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.68431243C=CA1173557973RPE65c.1338+39G= (n.1338+39G=)
c.1062+39G= (n.1062+39G=)
1g.68431243C>GCA1173557974RPE65c.1338+39G>C (n.1338+39G>C)
c.1062+39G>C (n.1062+39G>C)
 dbSNP gnomAD v4
1g.68431243C>TCA2500584445RPE65c.1338+39G>A (n.1338+39G>A)
c.1062+39G>A (n.1062+39G>A)
1g.68431244A>CCA2502272271RPE65c.1338+38T>G (n.1338+38T>G)
c.1062+38T>G (n.1062+38T>G)
1g.68431245A>CCA2646150115RPE65c.1338+37T>G (n.1338+37T>G)
c.1062+37T>G (n.1062+37T>G)
 gnomAD v4
1g.68431247G>ACA2646150116RPE65c.1338+35C>T (n.1338+35C>T)
c.1062+35C>T (n.1062+35C>T)
 dbSNP gnomAD v4
1g.68431248delCA2646150117RPE65c.1338+34del (n.1338+34del)
c.1062+34del (n.1062+34del)
 gnomAD v4
1g.68431248C>TCA2561454471RPE65c.1338+34G>A (n.1338+34G>A)
c.1062+34G>A (n.1062+34G>A)
1g.68431249A>TCA2646150118RPE65c.1338+33T>A (n.1338+33T>A)
c.1062+33T>A (n.1062+33T>A)
 gnomAD v4
1g.68431250C>TCA2646150119RPE65c.1338+32G>A (n.1338+32G>A)
c.1062+32G>A (n.1062+32G>A)
 gnomAD v4
1g.68431251T>GCA2646150120RPE65c.1338+31A>C (n.1338+31A>C)
c.1062+31A>C (n.1062+31A>C)
 gnomAD v4
1g.68431252G>ACA2574402876RPE65c.1338+30C>T (n.1338+30C>T)
c.1062+30C>T (n.1062+30C>T)
 gnomAD v4
1g.68431253T>CCA2646150121RPE65c.1338+29A>G (n.1338+29A>G)
c.1062+29A>G (n.1062+29A>G)
 gnomAD v4
1g.68431257_68431258delCA2744009094RPE65c.1338+25_1338+26del (n.1338+25_1338+26del)
c.1062+25_1062+26del (n.1062+25_1062+26del)
1g.68431260A>GCA2646150122RPE65c.1338+22T>C (n.1338+22T>C)
c.1062+22T>C (n.1062+22T>C)
 gnomAD v4
1g.68431260_68431261delinsATCA1173557975RPE65c.1338+21_1338+22delinsAT (n.1338+21_1338+22delinsAT)
c.1062+21_1062+22delinsAT (n.1062+21_1062+22delinsAT)
1g.68431260_68431263delCA2744009095RPE65c.1338+19_1338+22del (n.1338+19_1338+22del)
c.1062+19_1062+22del (n.1062+19_1062+22del)
1g.68431261T>CCA2646150123RPE65c.1338+21A>G (n.1338+21A>G)
c.1062+21A>G (n.1062+21A>G)
 gnomAD v4
1g.68431262delCA523749723RPE65c.1338+21del (n.1338+21del)
c.1062+21del (n.1062+21del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68431262T>ACA646107210RPE65c.1338+20A>T (n.1338+20A>T)
c.1062+20A>T (n.1062+20A>T)
 COSMIC
1g.68431262T>CCA1173557976RPE65c.1338+20A>G (n.1338+20A>G)
c.1062+20A>G (n.1062+20A>G)
 dbSNP
1g.68431262T>GCA285813RPE65c.1338+20A>C (n.1338+20A>C)
c.1062+20A>C (n.1062+20A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431262T=CA1140402783RPE65c.1338+20A= (n.1338+20A=)
c.1062+20A= (n.1062+20A=)
1g.68431263A>TCA2740090762RPE65c.1338+19T>A (n.1338+19T>A)
c.1062+19T>A (n.1062+19T>A)
 ClinVar
1g.68431264G>ACA2646150124RPE65c.1338+18C>T (n.1338+18C>T)
c.1062+18C>T (n.1062+18C>T)
 gnomAD v4
1g.68431264G>CCA2744009096RPE65c.1338+18C>G (n.1338+18C>G)
c.1062+18C>G (n.1062+18C>G)
1g.68431264G=CA1173557977RPE65c.1338+18C= (n.1338+18C=)
c.1062+18C= (n.1062+18C=)
1g.68431264G>TCA523749724RPE65c.1338+18C>A (n.1338+18C>A)
c.1062+18C>A (n.1062+18C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.68431265T>ACA902205RPE65c.1338+17A>T (n.1338+17A>T)
c.1062+17A>T (n.1062+17A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68431265T=CA1173557978RPE65c.1338+17A= (n.1338+17A=)
c.1062+17A= (n.1062+17A=)
1g.68431266A=CA1173557979RPE65c.1338+16T= (n.1338+16T=)
c.1062+16T= (n.1062+16T=)
1g.68431266A>GCA1173557980RPE65c.1338+16T>C (n.1338+16T>C)
c.1062+16T>C (n.1062+16T>C)
 dbSNP
1g.68431267A=CA1173557981RPE65c.1338+15T= (n.1338+15T=)
c.1062+15T= (n.1062+15T=)
1g.68431267A>CCA523749725RPE65c.1338+15T>G (n.1338+15T>G)
c.1062+15T>G (n.1062+15T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.68431267A>GCA2740090763RPE65c.1338+15T>C (n.1338+15T>C)
c.1062+15T>C (n.1062+15T>C)
 ClinVar
1g.68431268delCA2744009097RPE65c.1338+14del (n.1338+14del)
c.1062+14del (n.1062+14del)
1g.68431269A>GCA2646150125RPE65c.1338+13T>C (n.1338+13T>C)
c.1062+13T>C (n.1062+13T>C)
 ClinVar gnomAD v4
1g.68431270A>TCA2504071114RPE65c.1338+12T>A (n.1338+12T>A)
c.1062+12T>A (n.1062+12T>A)
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)

Number of alleles fetched