Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68444605C>ACA340747854RPE65c.421G>T (p.Glu141Ter)
c.145G>T (p.Glu49Ter)
 ClinVar dbSNP gnomAD v4
1g.68444605C=CA1173563408RPE65c.421G= (p.Glu141=)
c.145G= (p.Glu49=)
1g.68444605C>GCA340747857RPE65c.421G>C (p.Glu141Gln)
c.145G>C (p.Glu49Gln)
1g.68444605C>TCA340747855RPE65c.421G>A (p.Glu141Lys)
c.145G>A (p.Glu49Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444606C>ACA418282711RPE65c.420G>T (p.Gly140=)
c.144G>T (p.Gly48=)
1g.68444606C=CA1173563409RPE65c.420G= (p.Gly140=)
c.144G= (p.Gly48=)
1g.68444606C>GCA418282712RPE65c.420G>C (p.Gly140=)
c.144G>C (p.Gly48=)
1g.68444606C>TCA418282713RPE65c.420G>A (p.Gly140=)
c.144G>A (p.Gly48=)
 ClinVar dbSNP
1g.68444607C>ACA340747860RPE65c.419G>T (p.Gly140Val)
c.143G>T (p.Gly48Val)
1g.68444607C=CA1173563410RPE65c.419G= (p.Gly140=)
c.143G= (p.Gly48=)
1g.68444607C>GCA340747861RPE65c.419G>C (p.Gly140Ala)
c.143G>C (p.Gly48Ala)
1g.68444607C>TCA340747862RPE65c.419G>A (p.Gly140Glu)
c.143G>A (p.Gly48Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444608C>ACA340747863RPE65c.418G>T (p.Gly140Trp)
c.142G>T (p.Gly48Trp)
 COSMIC
1g.68444608C>GCA340747864RPE65c.418G>C (p.Gly140Arg)
c.142G>C (p.Gly48Arg)
1g.68444608C>TCA340747865RPE65c.418G>A (p.Gly140Arg)
c.142G>A (p.Gly48Arg)
1g.68444609C>ACA418282716RPE65c.417G>T (p.Val139=)
c.141G>T (p.Val47=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444609C=CA1144906582RPE65c.417G= (p.Val139=)
c.141G= (p.Val47=)
1g.68444609C>GCA418282717RPE65c.417G>C (p.Val139=)
c.141G>C (p.Val47=)
1g.68444609C>TCA902509RPE65c.417G>A (p.Val139=)
c.141G>A (p.Val47=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444610A>CCA340747866RPE65c.416T>G (p.Val139Gly)
c.140T>G (p.Val47Gly)
 gnomAD v4
1g.68444610A>GCA340747867RPE65c.416T>C (p.Val139Ala)
c.140T>C (p.Val47Ala)
1g.68444610A>TCA340747868RPE65c.416T>A (p.Val139Glu)
c.140T>A (p.Val47Glu)
1g.68444611C>ACA340747871RPE65c.415G>T (p.Val139Leu)
c.139G>T (p.Val47Leu)
 dbSNP gnomAD v4
1g.68444611C=CA1173563411RPE65c.415G= (p.Val139=)
c.139G= (p.Val47=)
1g.68444611C>GCA340747870RPE65c.415G>C (p.Val139Leu)
c.139G>C (p.Val47Leu)
1g.68444611C>TCA340747869RPE65c.415G>A (p.Val139Met)
c.139G>A (p.Val47Met)
 ClinVar
1g.68444612delCA2586966744RPE65c.414del (p.Val139TrpfsTer?)
c.138del (p.Val47TrpfsTer?)
1g.68444612T>ACA902510RPE65c.414A>T (p.Pro138=)
c.138A>T (p.Pro46=)
 dbSNP ExAC gnomAD v2
1g.68444612T>CCA418282722RPE65c.414A>G (p.Pro138=)
c.138A>G (p.Pro46=)
1g.68444612T>GCA418282721RPE65c.414A>C (p.Pro138=)
c.138A>C (p.Pro46=)
 ClinVar dbSNP
1g.68444612T=CA1173563412RPE65c.414A= (p.Pro138=)
c.138A= (p.Pro46=)
1g.68444613G>ACA340747872RPE65c.413C>T (p.Pro138Leu)
c.137C>T (p.Pro46Leu)
1g.68444613G>CCA340747873RPE65c.413C>G (p.Pro138Arg)
c.137C>G (p.Pro46Arg)
1g.68444613G>TCA340747874RPE65c.413C>A (p.Pro138Gln)
c.137C>A (p.Pro46Gln)
 COSMIC
1g.68444614G>ACA340747875RPE65c.412C>T (p.Pro138Ser)
c.136C>T (p.Pro46Ser)
 gnomAD v4
1g.68444614G>CCA340747876RPE65c.412C>G (p.Pro138Ala)
c.136C>G (p.Pro46Ala)
1g.68444614G>TCA340747877RPE65c.412C>A (p.Pro138Thr)
c.136C>A (p.Pro46Thr)
1g.68444615G>ACA418282723RPE65c.411C>T (p.Tyr137=)
c.135C>T (p.Tyr45=)
 dbSNP gnomAD v3 gnomAD v4
1g.68444615G>CCA340747878RPE65c.411C>G (p.Tyr137Ter)
c.135C>G (p.Tyr45Ter)
 ClinVar
1g.68444615G=CA1173563413RPE65c.411C= (p.Tyr137=)
c.135C= (p.Tyr45=)
1g.68444615G>TCA340747879RPE65c.411C>A (p.Tyr137Ter)
c.135C>A (p.Tyr45Ter)
 ClinVar
1g.68444616T>ACA340747880RPE65c.410A>T (p.Tyr137Phe)
c.134A>T (p.Tyr45Phe)
1g.68444616T>CCA340747881RPE65c.410A>G (p.Tyr137Cys)
c.134A>G (p.Tyr45Cys)
1g.68444616T>GCA340747882RPE65c.410A>C (p.Tyr137Ser)
c.134A>C (p.Tyr45Ser)
1g.68444617A>CCA340747883RPE65c.409T>G (p.Tyr137Asp)
c.133T>G (p.Tyr45Asp)
1g.68444617A>GCA340747884RPE65c.409T>C (p.Tyr137His)
c.133T>C (p.Tyr45His)
 gnomAD v4
1g.68444617A>TCA340747885RPE65c.409T>A (p.Tyr137Asn)
c.133T>A (p.Tyr45Asn)
1g.68444618G>ACA902511RPE65c.408C>T (p.Val136=)
c.132C>T (p.Val44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444618G>CCA418282725RPE65c.408C>G (p.Val136=)
c.132C>G (p.Val44=)
1g.68444618G=CA1143935221RPE65c.408C= (p.Val136=)
c.132C= (p.Val44=)
1g.68444618G>TCA418282724RPE65c.408C>A (p.Val136=)
c.132C>A (p.Val44=)
 COSMIC
1g.68444619A=CA1173563414RPE65c.407T= (p.Val136=)
c.131T= (p.Val44=)
1g.68444619A>CCA340747886RPE65c.407T>G (p.Val136Gly)
c.131T>G (p.Val44Gly)
 ClinVar dbSNP
1g.68444619A>GCA340747887RPE65c.407T>C (p.Val136Ala)
c.131T>C (p.Val44Ala)
1g.68444619A>TCA340747888RPE65c.407T>A (p.Val136Asp)
c.131T>A (p.Val44Asp)
1g.68444620C>ACA902512RPE65c.406G>T (p.Val136Phe)
c.130G>T (p.Val44Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444620C=CA1145569277RPE65c.406G= (p.Val136=)
c.130G= (p.Val44=)
1g.68444620C>GCA902513RPE65c.406G>C (p.Val136Leu)
c.130G>C (p.Val44Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444620C>TCA340747889RPE65c.406G>A (p.Val136Ile)
c.130G>A (p.Val44Ile)
 gnomAD v4
1g.68444621A=CA1173563415RPE65c.405T= (p.Asn135=)
c.129T= (p.Asn43=)
1g.68444621A>CCA340747890RPE65c.405T>G (p.Asn135Lys)
c.129T>G (p.Asn43Lys)
1g.68444621A>GCA418282726RPE65c.405T>C (p.Asn135=)
c.129T>C (p.Asn43=)
 dbSNP
1g.68444621A>TCA340747891RPE65c.405T>A (p.Asn135Lys)
c.129T>A (p.Asn43Lys)
 ClinVar dbSNP gnomAD v4
1g.68444622T>ACA340747892RPE65c.404A>T (p.Asn135Ile)
c.128A>T (p.Asn43Ile)
1g.68444622T>CCA340747893RPE65c.404A>G (p.Asn135Ser)
c.128A>G (p.Asn43Ser)
1g.68444622T>GCA340747894RPE65c.404A>C (p.Asn135Thr)
c.128A>C (p.Asn43Thr)
 gnomAD v4
1g.68444623T>ACA340747895RPE65c.403A>T (p.Asn135Tyr)
c.127A>T (p.Asn43Tyr)
1g.68444623T>CCA340747896RPE65c.403A>G (p.Asn135Asp)
c.127A>G (p.Asn43Asp)
1g.68444623T>GCA340747897RPE65c.403A>C (p.Asn135His)
c.127A>C (p.Asn43His)
1g.68444623_68444626delinsTAACCA1173563416RPE65c.400_403delinsGTTA (p.Val134=)
c.124_127delinsGTTA (p.Val42=)
1g.68444624A=CA1173563417RPE65c.402T= (p.Val134=)
c.126T= (p.Val42=)
1g.68444624A>CCA418282727RPE65c.402T>G (p.Val134=)
c.126T>G (p.Val42=)
1g.68444624A>GCA418282729RPE65c.402T>C (p.Val134=)
c.126T>C (p.Val42=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444624A>TCA418282728RPE65c.402T>A (p.Val134=)
c.126T>A (p.Val42=)
1g.68444626_68444628delCA738204684RPE65c.400_402del (p.Val134del)
c.124_126del (p.Val42del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444625A>CCA340747899RPE65c.401T>G (p.Val134Gly)
c.125T>G (p.Val42Gly)
1g.68444625A>GCA340747900RPE65c.401T>C (p.Val134Ala)
c.125T>C (p.Val42Ala)
1g.68444625A>TCA340747898RPE65c.401T>A (p.Val134Asp)
c.125T>A (p.Val42Asp)
1g.68444626C>ACA340747901RPE65c.400G>T (p.Val134Phe)
c.124G>T (p.Val42Phe)
 gnomAD v4
1g.68444626C=CA1148259220RPE65c.400G= (p.Val134=)
c.124G= (p.Val42=)
1g.68444626C>GCA340747902RPE65c.400G>C (p.Val134Leu)
c.124G>C (p.Val42Leu)
1g.68444626C>TCA902514RPE65c.400G>A (p.Val134Ile)
c.124G>A (p.Val42Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444627A=CA1140685663RPE65c.399T= (p.Leu133=)
c.123T= (p.Leu41=)
1g.68444627A>CCA418282730RPE65c.399T>G (p.Leu133=)
c.123T>G (p.Leu41=)
1g.68444627A>GCA226548RPE65c.399T>C (p.Leu133=)
c.123T>C (p.Leu41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444627A>TCA418282731RPE65c.399T>A (p.Leu133=)
c.123T>A (p.Leu41=)
1g.68444628A=CA1173563418RPE65c.398T= (p.Leu133=)
c.122T= (p.Leu41=)
1g.68444628A>CCA340747903RPE65c.398T>G (p.Leu133Arg)
c.122T>G (p.Leu41Arg)
1g.68444628A>GCA340747904RPE65c.398T>C (p.Leu133Pro)
c.122T>C (p.Leu41Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.68444628A>TCA340747905RPE65c.398T>A (p.Leu133His)
c.122T>A (p.Leu41His)
1g.68444629G>ACA340747906RPE65c.397C>T (p.Leu133Phe)
c.121C>T (p.Leu41Phe)
1g.68444629G>CCA340747907RPE65c.397C>G (p.Leu133Val)
c.121C>G (p.Leu41Val)
1g.68444629G>TCA340747908RPE65c.397C>A (p.Leu133Ile)
c.121C>A (p.Leu41Ile)
1g.68444630G>ACA418282732RPE65c.396C>T (p.Ala132=)
c.120C>T (p.Ala40=)
1g.68444630G>CCA418282733RPE65c.396C>G (p.Ala132=)
c.120C>G (p.Ala40=)
 gnomAD v4
1g.68444630G>TCA418282734RPE65c.396C>A (p.Ala132=)
c.120C>A (p.Ala40=)
1g.68444631G>ACA340747909RPE65c.395C>T (p.Ala132Val)
c.119C>T (p.Ala40Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444631G>CCA340747910RPE65c.395C>G (p.Ala132Gly)
c.119C>G (p.Ala40Gly)
1g.68444631G=CA1173563419RPE65c.395C= (p.Ala132=)
c.119C= (p.Ala40=)
1g.68444631G>TCA340747911RPE65c.395C>A (p.Ala132Asp)
c.119C>A (p.Ala40Asp)
1g.68444632C>ACA340747913RPE65c.394G>T (p.Ala132Ser)
c.118G>T (p.Ala40Ser)
1g.68444632C=CA1140725791RPE65c.394G= (p.Ala132=)
c.118G= (p.Ala40=)
1g.68444632C>GCA340747912RPE65c.394G>C (p.Ala132Pro)
c.118G>C (p.Ala40Pro)
1g.68444632C>TCA226547RPE65c.394G>A (p.Ala132Thr)
c.118G>A (p.Ala40Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444633A>CCA340747914RPE65c.393T>G (p.Asn131Lys)
c.117T>G (p.Asn39Lys)
1g.68444633A>GCA418282735RPE65c.393T>C (p.Asn131=)
c.117T>C (p.Asn39=)
1g.68444633A>TCA340747915RPE65c.393T>A (p.Asn131Lys)
c.117T>A (p.Asn39Lys)
1g.68444634T>ACA340747916RPE65c.392A>T (p.Asn131Ile)
c.116A>T (p.Asn39Ile)
1g.68444634T>CCA340747917RPE65c.392A>G (p.Asn131Ser)
c.116A>G (p.Asn39Ser)
1g.68444634T>GCA340747918RPE65c.392A>C (p.Asn131Thr)
c.116A>C (p.Asn39Thr)
1g.68444635T>ACA340747919RPE65c.391A>T (p.Asn131Tyr)
c.115A>T (p.Asn39Tyr)
1g.68444635T>CCA902515RPE65c.391A>G (p.Asn131Asp)
c.115A>G (p.Asn39Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444635T>GCA340747920RPE65c.391A>C (p.Asn131His)
c.115A>C (p.Asn39His)
1g.68444635T=CA1149053732RPE65c.391A= (p.Asn131=)
c.115A= (p.Asn39=)
1g.68444636G>ACA418282736RPE65c.390C>T (p.Asp130=)
c.114C>T (p.Asp38=)
 ClinVar dbSNP
1g.68444636G>CCA340747921RPE65c.390C>G (p.Asp130Glu)
c.114C>G (p.Asp38Glu)
1g.68444636G>TCA340747922RPE65c.390C>A (p.Asp130Glu)
c.114C>A (p.Asp38Glu)
1g.68444637T>ACA340747923RPE65c.389A>T (p.Asp130Val)
c.113A>T (p.Asp38Val)
1g.68444637T>CCA340747924RPE65c.389A>G (p.Asp130Gly)
c.113A>G (p.Asp38Gly)
 COSMIC
1g.68444637T>GCA340747925RPE65c.389A>C (p.Asp130Ala)
c.113A>C (p.Asp38Ala)
1g.68444638C>ACA340747927RPE65c.388G>T (p.Asp130Tyr)
c.112G>T (p.Asp38Tyr)
 gnomAD v4
1g.68444638C>GCA340747928RPE65c.388G>C (p.Asp130His)
c.112G>C (p.Asp38His)
1g.68444638C>TCA340747926RPE65c.388G>A (p.Asp130Asn)
c.112G>A (p.Asp38Asn)
1g.68444639A=CA1173563420RPE65c.387T= (p.Thr129=)
c.111T= (p.Thr37=)
1g.68444639A>CCA418282738RPE65c.387T>G (p.Thr129=)
c.111T>G (p.Thr37=)
1g.68444639A>GCA418282739RPE65c.387T>C (p.Thr129=)
c.111T>C (p.Thr37=)
 dbSNP gnomAD v2 gnomAD v4
1g.68444639A>TCA418282740RPE65c.387T>A (p.Thr129=)
c.111T>A (p.Thr37=)
1g.68444640G>ACA902516RPE65c.386C>T (p.Thr129Ile)
c.110C>T (p.Thr37Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444640G>CCA340747929RPE65c.386C>G (p.Thr129Ser)
c.110C>G (p.Thr37Ser)
1g.68444640G=CA1173563421RPE65c.386C= (p.Thr129=)
c.110C= (p.Thr37=)
1g.68444640G>TCA340747930RPE65c.386C>A (p.Thr129Asn)
c.110C>A (p.Thr37Asn)
1g.68444641T>ACA340747931RPE65c.385A>T (p.Thr129Ser)
c.109A>T (p.Thr37Ser)
1g.68444641T>CCA340747932RPE65c.385A>G (p.Thr129Ala)
c.109A>G (p.Thr37Ala)
 gnomAD v4
1g.68444641T>GCA340747933RPE65c.385A>C (p.Thr129Pro)
c.109A>C (p.Thr37Pro)
1g.68444642A>CCA418282741RPE65c.384T>G (p.Val128=)
c.108T>G (p.Val36=)
1g.68444642A>GCA418282742RPE65c.384T>C (p.Val128=)
c.108T>C (p.Val36=)
1g.68444642A>TCA418282743RPE65c.384T>A (p.Val128=)
c.108T>A (p.Val36=)
1g.68444643A>CCA340747934RPE65c.383T>G (p.Val128Gly)
c.107T>G (p.Val36Gly)
1g.68444643A>GCA340747935RPE65c.383T>C (p.Val128Ala)
c.107T>C (p.Val36Ala)
 gnomAD v4
1g.68444643A>TCA340747936RPE65c.383T>A (p.Val128Asp)
c.107T>A (p.Val36Asp)
1g.68444644C>ACA902517RPE65c.382G>T (p.Val128Phe)
c.106G>T (p.Val36Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444644C=CA1144071542RPE65c.382G= (p.Val128=)
c.106G= (p.Val36=)
1g.68444644C>GCA340747937RPE65c.382G>C (p.Val128Leu)
c.106G>C (p.Val36Leu)
 gnomAD v4
1g.68444644C>TCA340747938RPE65c.382G>A (p.Val128Ile)
c.106G>A (p.Val36Ile)
 ClinVar
1g.68444645C>ACA340747940RPE65c.381G>T (p.Glu127Asp)
c.105G>T (p.Glu35Asp)
1g.68444645C>GCA340747939RPE65c.381G>C (p.Glu127Asp)
c.105G>C (p.Glu35Asp)
1g.68444645C>TCA418282744RPE65c.381G>A (p.Glu127=)
c.105G>A (p.Glu35=)
 gnomAD v4
1g.68444646T>ACA340747941RPE65c.380A>T (p.Glu127Val)
c.104A>T (p.Glu35Val)
1g.68444646T>CCA340747942RPE65c.380A>G (p.Glu127Gly)
c.104A>G (p.Glu35Gly)
1g.68444646T>GCA340747943RPE65c.380A>C (p.Glu127Ala)
c.104A>C (p.Glu35Ala)
1g.68444647C>ACA340747944RPE65c.379G>T (p.Glu127Ter)
c.103G>T (p.Glu35Ter)
1g.68444647C>GCA340747945RPE65c.379G>C (p.Glu127Gln)
c.103G>C (p.Glu35Gln)
1g.68444647C>TCA340747946RPE65c.379G>A (p.Glu127Lys)
c.103G>A (p.Glu35Lys)
 gnomAD v4 COSMIC
1g.68444648T>ACA418282745RPE65c.378A>T (p.Val126=)
c.102A>T (p.Val34=)
1g.68444648T>CCA418282746RPE65c.378A>G (p.Val126=)
c.102A>G (p.Val34=)
 gnomAD v4
1g.68444648T>GCA418282747RPE65c.378A>C (p.Val126=)
c.102A>C (p.Val34=)
1g.68444649A=CA1173563422RPE65c.377T= (p.Val126=)
c.101T= (p.Val34=)
1g.68444649A>CCA340747947RPE65c.377T>G (p.Val126Gly)
c.101T>G (p.Val34Gly)
1g.68444649A>GCA340747948RPE65c.377T>C (p.Val126Ala)
c.101T>C (p.Val34Ala)
 ClinVar dbSNP gnomAD v4
1g.68444649A>TCA340747949RPE65c.377T>A (p.Val126Glu)
c.101T>A (p.Val34Glu)
1g.68444650delCA2586966745RPE65c.376del (p.Val126Ter)
c.100del (p.Val34Ter)
1g.68444650C>ACA340747950RPE65c.376G>T (p.Val126Leu)
c.100G>T (p.Val34Leu)
1g.68444650C=CA1173563423RPE65c.376G= (p.Val126=)
c.100G= (p.Val34=)
1g.68444650C>GCA340747951RPE65c.376G>C (p.Val126Leu)
c.100G>C (p.Val34Leu)
1g.68444650C>TCA340747952RPE65c.376G>A (p.Val126Ile)
c.100G>A (p.Val34Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.68444651T>ACA418282748RPE65c.375A>T (p.Gly125=)
c.99A>T (p.Gly33=)
1g.68444651T>CCA902518RPE65c.375A>G (p.Gly125=)
c.99A>G (p.Gly33=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444651T>GCA418282749RPE65c.375A>C (p.Gly125=)
c.99A>C (p.Gly33=)
1g.68444651T=CA1173563425RPE65c.375A= (p.Gly125=)
c.99A= (p.Gly33=)
1g.68444651_68444652delinsTCCA1173563424RPE65c.374_375delinsGA (p.Gly125=)
c.98_99delinsGA (p.Gly33=)
1g.68444651_68444656delCA2744001084RPE65c.370_375del (p.Arg124_Gly125del)
c.94_99del (p.Arg32_Gly33del)
1g.68444652C>ACA340747955RPE65c.374G>T (p.Gly125Val)
c.98G>T (p.Gly33Val)
1g.68444652C>GCA340747954RPE65c.374G>C (p.Gly125Ala)
c.98G>C (p.Gly33Ala)
1g.68444652C>TCA340747953RPE65c.374G>A (p.Gly125Glu)
c.98G>A (p.Gly33Glu)
1g.68444653delCA902519RPE65c.374del (p.Gly125GlufsTer2)
c.98del (p.Gly33GlufsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444653C>ACA340747957RPE65c.373G>T (p.Gly125Ter)
c.97G>T (p.Gly33Ter)
1g.68444653C>GCA340747956RPE65c.373G>C (p.Gly125Arg)
c.97G>C (p.Gly33Arg)
1g.68444653C>TCA340747958RPE65c.373G>A (p.Gly125Arg)
c.97G>A (p.Gly33Arg)
 gnomAD v4 COSMIC
1g.68444654T>ACA418282750RPE65c.372A>T (p.Arg124=)
c.96A>T (p.Arg32=)
1g.68444654T>CCA418282751RPE65c.372A>G (p.Arg124=)
c.96A>G (p.Arg32=)
1g.68444654T>GCA418282752RPE65c.372A>C (p.Arg124=)
c.96A>C (p.Arg32=)
 ClinVar dbSNP
1g.68444655C>ACA340747959RPE65c.371G>T (p.Arg124Leu)
c.95G>T (p.Arg32Leu)
 COSMIC
1g.68444655C=CA1148891647RPE65c.371G= (p.Arg124=)
c.95G= (p.Arg32=)
1g.68444655C>GCA340747960RPE65c.371G>C (p.Arg124Pro)
c.95G>C (p.Arg32Pro)
 dbSNP
1g.68444655C>TCA902520RPE65c.371G>A (p.Arg124Gln)
c.95G>A (p.Arg32Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68444656G>ACA226545RPE65c.370C>T (p.Arg124Ter)
c.94C>T (p.Arg32Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444656G>CCA340747961RPE65c.370C>G (p.Arg124Gly)
c.94C>G (p.Arg32Gly)
1g.68444656G=CA1140725792RPE65c.370C= (p.Arg124=)
c.94C= (p.Arg32=)
1g.68444656G>TCA902521RPE65c.370C>A (p.Arg124=)
c.94C>A (p.Arg32=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444656_68444658delCA2744001085RPE65c.368_370del (p.Phe123Ter)
c.92_94del (p.Phe31Ter)
1g.68444657A>CCA340747962RPE65c.369T>G (p.Phe123Leu)
c.93T>G (p.Phe31Leu)
1g.68444657A>GCA418282753RPE65c.369T>C (p.Phe123=)
c.93T>C (p.Phe31=)
1g.68444657A>TCA340747963RPE65c.369T>A (p.Phe123Leu)
c.93T>A (p.Phe31Leu)
1g.68444658A>CCA340747964RPE65c.368T>G (p.Phe123Cys)
c.92T>G (p.Phe31Cys)
1g.68444658A>GCA340747966RPE65c.368T>C (p.Phe123Ser)
c.92T>C (p.Phe31Ser)
1g.68444658A>TCA340747968RPE65c.368T>A (p.Phe123Tyr)
c.92T>A (p.Phe31Tyr)
1g.68444659A=CA1173563426RPE65c.367T= (p.Phe123=)
c.91T= (p.Phe31=)
1g.68444659A>CCA340747970RPE65c.367T>G (p.Phe123Val)
c.91T>G (p.Phe31Val)
1g.68444659A>GCA902522RPE65c.367T>C (p.Phe123Leu)
c.91T>C (p.Phe31Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444659A>TCA340747972RPE65c.367T>A (p.Phe123Ile)
c.91T>A (p.Phe31Ile)
1g.68444660G>ACA418282754RPE65c.366C>T (p.Tyr122=)
c.90C>T (p.Tyr30=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444660G>CCA340747975RPE65c.366C>G (p.Tyr122Ter)
c.90C>G (p.Tyr30Ter)
1g.68444660G=CA1173563427RPE65c.366C= (p.Tyr122=)
c.90C= (p.Tyr30=)
1g.68444660G>TCA340747977RPE65c.366C>A (p.Tyr122Ter)
c.90C>A (p.Tyr30Ter)
 ClinVar
1g.68444661T>ACA340747983RPE65c.365A>T (p.Tyr122Phe)
c.89A>T (p.Tyr30Phe)
1g.68444661T>CCA340747981RPE65c.365A>G (p.Tyr122Cys)
c.89A>G (p.Tyr30Cys)
 gnomAD v4
1g.68444661T>GCA340747980RPE65c.365A>C (p.Tyr122Ser)
c.89A>C (p.Tyr30Ser)
1g.68444662A>CCA340747985RPE65c.364T>G (p.Tyr122Asp)
c.88T>G (p.Tyr30Asp)
1g.68444662A>GCA340747987RPE65c.364T>C (p.Tyr122His)
c.88T>C (p.Tyr30His)
1g.68444662A>TCA340747989RPE65c.364T>A (p.Tyr122Asn)
c.88T>A (p.Tyr30Asn)
1g.68444663A>CCA418282755RPE65c.363T>G (p.Ser121=)
c.87T>G (p.Ser29=)
1g.68444663A>GCA418282756RPE65c.363T>C (p.Ser121=)
c.87T>C (p.Ser29=)
1g.68444663A>TCA418282757RPE65c.363T>A (p.Ser121=)
c.87T>A (p.Ser29=)
1g.68444664G>ACA340747991RPE65c.362C>T (p.Ser121Phe)
c.86C>T (p.Ser29Phe)
1g.68444664G>CCA340747992RPE65c.362C>G (p.Ser121Cys)
c.86C>G (p.Ser29Cys)
1g.68444664G>TCA340747994RPE65c.362C>A (p.Ser121Tyr)
c.86C>A (p.Ser29Tyr)
 gnomAD v4
1g.68444664_68444665delinsGACA1173563428RPE65c.361_362delinsTC (p.Ser121=)
c.85_86delinsTC (p.Ser29=)
1g.68444665A>CCA340747996RPE65c.361T>G (p.Ser121Ala)
c.85T>G (p.Ser29Ala)
1g.68444665A>GCA340747998RPE65c.361T>C (p.Ser121Pro)
c.85T>C (p.Ser29Pro)
1g.68444665A>TCA340748000RPE65c.361T>A (p.Ser121Thr)
c.85T>A (p.Ser29Thr)
1g.68444665_68444671delinsAAAAAAACA1141580845RPE65c.355_361delinsTTTTTTT (p.Phe119=)
c.79_85delinsTTTTTTT (p.Phe27=)
1g.68444671dupCA23575009RPE65c.361dup (p.Ser121PhefsTer10)
c.85dup (p.Ser29PhefsTer10)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444671delCA523301836RPE65c.361del (p.Ser121LeufsTer6)
c.85del (p.Ser29LeufsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444666A=CA1173563429RPE65c.360T= (p.Phe120=)
c.84T= (p.Phe28=)
1g.68444666A>CCA340748002RPE65c.360T>G (p.Phe120Leu)
c.84T>G (p.Phe28Leu)
1g.68444666A>GCA902523RPE65c.360T>C (p.Phe120=)
c.84T>C (p.Phe28=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444666A>TCA340748005RPE65c.360T>A (p.Phe120Leu)
c.84T>A (p.Phe28Leu)
1g.68444667A=CA1173563430RPE65c.359T= (p.Phe120=)
c.83T= (p.Phe28=)
1g.68444667A>CCA340748009RPE65c.359T>G (p.Phe120Cys)
c.83T>G (p.Phe28Cys)
1g.68444667A>GCA340748011RPE65c.359T>C (p.Phe120Ser)
c.83T>C (p.Phe28Ser)
 dbSNP
1g.68444667A>TCA340748007RPE65c.359T>A (p.Phe120Tyr)
c.83T>A (p.Phe28Tyr)
1g.68444668A=CA1173563431RPE65c.358T= (p.Phe120=)
c.82T= (p.Phe28=)
1g.68444668A>CCA340748013RPE65c.358T>G (p.Phe120Val)
c.82T>G (p.Phe28Val)
 dbSNP gnomAD v2 gnomAD v4
1g.68444668A>GCA340748015RPE65c.358T>C (p.Phe120Leu)
c.82T>C (p.Phe28Leu)
1g.68444668A>TCA340748016RPE65c.358T>A (p.Phe120Ile)
c.82T>A (p.Phe28Ile)
1g.68444669A>CCA340748019RPE65c.357T>G (p.Phe119Leu)
c.81T>G (p.Phe27Leu)
 gnomAD v4
1g.68444669A>GCA418282758RPE65c.357T>C (p.Phe119=)
c.81T>C (p.Phe27=)
1g.68444669A>TCA340748020RPE65c.357T>A (p.Phe119Leu)
c.81T>A (p.Phe27Leu)
1g.68444670A>CCA340748022RPE65c.356T>G (p.Phe119Cys)
c.80T>G (p.Phe27Cys)
1g.68444670A>GCA340748023RPE65c.356T>C (p.Phe119Ser)
c.80T>C (p.Phe27Ser)
1g.68444670A>TCA340748025RPE65c.356T>A (p.Phe119Tyr)
c.80T>A (p.Phe27Tyr)
1g.68444671A=CA1173563432RPE65c.355T= (p.Phe119=)
c.79T= (p.Phe27=)
1g.68444671A>CCA340748027RPE65c.355T>G (p.Phe119Val)
c.79T>G (p.Phe27Val)
 dbSNP
1g.68444671A>GCA340748029RPE65c.355T>C (p.Phe119Leu)
c.79T>C (p.Phe27Leu)
1g.68444671A>TCA340748030RPE65c.355T>A (p.Phe119Ile)
c.79T>A (p.Phe27Ile)
1g.68444672C>ACA340748033RPE65c.354G>T (p.Arg118Ser)
c.78G>T (p.Arg26Ser)
 ClinVar dbSNP
1g.68444672C=CA1173563433RPE65c.354G= (p.Arg118=)
c.78G= (p.Arg26=)
1g.68444672C>GCA340748034RPE65c.354G>C (p.Arg118Ser)
c.78G>C (p.Arg26Ser)
 gnomAD v4
1g.68444672C>TCA23575050RPE65c.354G>A (p.Arg118=)
c.78G>A (p.Arg26=)
 dbSNP gnomAD v4
1g.68444672_68444673insTGTTTGTAATGAATATCCAGGAGTCCATACA1173563434RPE65c.354-1_354insTATGGACTCCTGGATATTCATTACAAACA (n.354-1_354insTATGGACTCCTGGATATTCATTACAAACA)
c.78-1_78insTATGGACTCCTGGATATTCATTACAAACA (n.78-1_78insTATGGACTCCTGGATATTCATTACAAACA)
 dbSNP
1g.68444673C>ACA340748036RPE65c.354-1G>T (n.354-1G>T)
c.78-1G>T (n.78-1G>T)
 ClinVar dbSNP
1g.68444673C>GCA340748040RPE65c.354-1G>C (n.354-1G>C)
c.78-1G>C (n.78-1G>C)
1g.68444673C>TCA340748038RPE65c.354-1G>A (n.354-1G>A)
c.78-1G>A (n.78-1G>A)
 ClinVar dbSNP
1g.68444674delCA2573131984RPE65c.354-2del (n.354-2del)
c.78-2del (n.78-2del)
 ClinVar dbSNP
1g.68444674T>ACA340748042RPE65c.354-2A>T (n.354-2A>T)
c.78-2A>T (n.78-2A>T)
1g.68444674T>CCA340748044RPE65c.354-2A>G (n.354-2A>G)
c.78-2A>G (n.78-2A>G)
 ClinVar
1g.68444674T>GCA340748045RPE65c.354-2A>C (n.354-2A>C)
c.78-2A>C (n.78-2A>C)
1g.68444676T>CCA2572040237RPE65c.354-4A>G (n.354-4A>G)
c.78-4A>G (n.78-4A>G)
1g.68444677A=CA1173563436RPE65c.354-5T= (n.354-5T=)
c.78-5T= (n.78-5T=)
1g.68444677A>GCA1173563435RPE65c.354-5T>C (n.354-5T>C)
c.78-5T>C (n.78-5T>C)
 dbSNP
1g.68444679A=CA1173563437RPE65c.354-7T= (n.354-7T=)
c.78-7T= (n.78-7T=)
1g.68444679A>GCA902524RPE65c.354-7T>C (n.354-7T>C)
c.78-7T>C (n.78-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444681A>GCA2569243273RPE65c.354-9T>C (n.354-9T>C)
c.78-9T>C (n.78-9T>C)
1g.68444682C>ACA523301921RPE65c.354-10G>T (n.354-10G>T)
c.78-10G>T (n.78-10G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444682C=CA1173563438RPE65c.354-10G= (n.354-10G=)
c.78-10G= (n.78-10G=)
1g.68444682C>TCA2646150339RPE65c.354-10G>A (n.354-10G>A)
c.78-10G>A (n.78-10G>A)
 gnomAD v4
1g.68444684A>GCA2646150342RPE65c.354-12T>C (n.354-12T>C)
c.78-12T>C (n.78-12T>C)
 gnomAD v4
1g.68444686T>ACA523301922RPE65c.354-14A>T (n.354-14A>T)
c.78-14A>T (n.78-14A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444686T>CCA2646150347RPE65c.354-14A>G (n.354-14A>G)
c.78-14A>G (n.78-14A>G)
 gnomAD v4
1g.68444686T>GCA2646150345RPE65c.354-14A>C (n.354-14A>C)
c.78-14A>C (n.78-14A>C)
 gnomAD v4
1g.68444686T=CA1173563439RPE65c.354-14A= (n.354-14A=)
c.78-14A= (n.78-14A=)
1g.68444687G>ACA2740090758RPE65c.354-15C>T (n.354-15C>T)
c.78-15C>T (n.78-15C>T)
 ClinVar
1g.68444688A>GCA2514892783RPE65c.354-16T>C (n.354-16T>C)
c.78-16T>C (n.78-16T>C)
1g.68444695C=CA1173563440RPE65c.354-23G= (n.354-23G=)
c.78-23G= (n.78-23G=)
1g.68444695C>TCA1173563441RPE65c.354-23G>A (n.354-23G>A)
c.78-23G>A (n.78-23G>A)
 dbSNP
1g.68444696A=CA1173563442RPE65c.354-24T= (n.354-24T=)
c.78-24T= (n.78-24T=)
1g.68444696A>TCA523301924RPE65c.354-24T>A (n.354-24T>A)
c.78-24T>A (n.78-24T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.68444698T>ACA523301925RPE65c.354-26A>T (n.354-26A>T)
c.78-26A>T (n.78-26A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444698T>CCA1002832864RPE65c.354-26A>G (n.354-26A>G)
c.78-26A>G (n.78-26A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.68444698T=CA1173563443RPE65c.354-26A= (n.354-26A=)
c.78-26A= (n.78-26A=)
1g.68444699C>TCA2646150350RPE65c.354-27G>A (n.354-27G>A)
c.78-27G>A (n.78-27G>A)
 gnomAD v4
1g.68444700C>ACA2574402991RPE65c.354-28G>T (n.354-28G>T)
c.78-28G>T (n.78-28G>T)
1g.68444701A>GCA2512644505RPE65c.354-29T>C (n.354-29T>C)
c.78-29T>C (n.78-29T>C)
1g.68444702G>ACA2646150351RPE65c.354-30C>T (n.354-30C>T)
c.78-30C>T (n.78-30C>T)
 gnomAD v4
1g.68444704A>GCA2646150353RPE65c.354-32T>C (n.354-32T>C)
c.78-32T>C (n.78-32T>C)
 gnomAD v4
1g.68444705delCA2646150352RPE65c.354-32del (n.354-32del)
c.78-32del (n.78-32del)
 gnomAD v4

Number of alleles fetched