Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68444479_68444483delCA2646150281RPE65c.495+49_495+53del (n.495+49_495+53del)
c.219+49_219+53del (n.219+49_219+53del)
 gnomAD v4
1g.68444484_68444485delinsAGCA1173563357RPE65c.495+46_495+47delinsCT (n.495+46_495+47delinsCT)
c.219+46_219+47delinsCT (n.219+46_219+47delinsCT)
1g.68444485delCA738204438RPE65c.495+46del (n.495+46del)
c.219+46del (n.219+46del)
 dbSNP gnomAD v3 gnomAD v4
1g.68444485G>ACA902490RPE65c.495+46C>T (n.495+46C>T)
c.219+46C>T (n.219+46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444485G=CA1173563358RPE65c.495+46C= (n.495+46C=)
c.219+46C= (n.219+46C=)
1g.68444487T>CCA646102794RPE65c.495+44A>G (n.495+44A>G)
c.219+44A>G (n.219+44A>G)
 COSMIC
1g.68444489C=CA1173563360RPE65c.495+42G= (n.495+42G=)
c.219+42G= (n.219+42G=)
1g.68444489C>TCA523301766RPE65c.495+42G>A (n.495+42G>A)
c.219+42G>A (n.219+42G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444489_68444490delinsCACA1173563359RPE65c.495+41_495+42delinsTG (n.495+41_495+42delinsTG)
c.219+41_219+42delinsTG (n.219+41_219+42delinsTG)
1g.68444492delCA902491RPE65c.495+41del (n.495+41del)
c.219+41del (n.219+41del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444491A=CA1173563361RPE65c.495+40T= (n.495+40T=)
c.219+40T= (n.219+40T=)
1g.68444491A>TCA902492RPE65c.495+40T>A (n.495+40T>A)
c.219+40T>A (n.219+40T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444492A>GCA2646150284RPE65c.495+39T>C (n.495+39T>C)
c.219+39T>C (n.219+39T>C)
 gnomAD v4
1g.68444495C>GCA646102795RPE65c.495+36G>C (n.495+36G>C)
c.219+36G>C (n.219+36G>C)
 COSMIC
1g.68444496T>GCA902493RPE65c.495+35A>C (n.495+35A>C)
c.219+35A>C (n.219+35A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444496T=CA1144124900RPE65c.495+35A= (n.495+35A=)
c.219+35A= (n.219+35A=)
1g.68444499A>GCA2646150285RPE65c.495+32T>C (n.495+32T>C)
c.219+32T>C (n.219+32T>C)
 gnomAD v4
1g.68444500T>CCA1002832746RPE65c.495+31A>G (n.495+31A>G)
c.219+31A>G (n.219+31A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.68444500T=CA1173563362RPE65c.495+31A= (n.495+31A=)
c.219+31A= (n.219+31A=)
1g.68444502C=CA1173563363RPE65c.495+29G= (n.495+29G=)
c.219+29G= (n.219+29G=)
1g.68444502C>TCA1002832748RPE65c.495+29G>A (n.495+29G>A)
c.219+29G>A (n.219+29G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.68444504T>CCA1173563364RPE65c.495+27A>G (n.495+27A>G)
c.219+27A>G (n.219+27A>G)
 dbSNP
1g.68444504T>GCA902494RPE65c.495+27A>C (n.495+27A>C)
c.219+27A>C (n.219+27A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444504T=CA1143822516RPE65c.495+27A= (n.495+27A=)
c.219+27A= (n.219+27A=)
1g.68444505G>ACA2744001069RPE65c.495+26C>T (n.495+26C>T)
c.219+26C>T (n.219+26C>T)
1g.68444508C>TCA2646150286RPE65c.495+23G>A (n.495+23G>A)
c.219+23G>A (n.219+23G>A)
 dbSNP gnomAD v4
1g.68444509A>GCA2646150287RPE65c.495+22T>C (n.495+22T>C)
c.219+22T>C (n.219+22T>C)
 gnomAD v4
1g.68444510T>CCA523301770RPE65c.495+21A>G (n.495+21A>G)
c.219+21A>G (n.219+21A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.68444510T=CA1173563365RPE65c.495+21A= (n.495+21A=)
c.219+21A= (n.219+21A=)
1g.68444511C=CA1173563366RPE65c.495+20G= (n.495+20G=)
c.219+20G= (n.219+20G=)
1g.68444511C>TCA1173563367RPE65c.495+20G>A (n.495+20G>A)
c.219+20G>A (n.219+20G>A)
 dbSNP
1g.68444512A>CCA2574402989RPE65c.495+19T>G (n.495+19T>G)
c.219+19T>G (n.219+19T>G)
1g.68444512A>GCA2646150288RPE65c.495+19T>C (n.495+19T>C)
c.219+19T>C (n.219+19T>C)
 gnomAD v4
1g.68444512A>TCA2574402988RPE65c.495+19T>A (n.495+19T>A)
c.219+19T>A (n.219+19T>A)
1g.68444513C=CA1144177214RPE65c.495+18G= (n.495+18G=)
c.219+18G= (n.219+18G=)
1g.68444513C>TCA902495RPE65c.495+18G>A (n.495+18G>A)
c.219+18G>A (n.219+18G>A)
 dbSNP ExAC gnomAD v2
1g.68444514C=CA1173563368RPE65c.495+17G= (n.495+17G=)
c.219+17G= (n.219+17G=)
1g.68444514C>TCA738204448RPE65c.495+17G>A (n.495+17G>A)
c.219+17G>A (n.219+17G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.68444516A=CA1173563369RPE65c.495+15T= (n.495+15T=)
c.219+15T= (n.219+15T=)
1g.68444516A>GCA1173563370RPE65c.495+15T>C (n.495+15T>C)
c.219+15T>C (n.219+15T>C)
 dbSNP
1g.68444517_68444527delinsGCACTGTGTCCCA1173563371RPE65c.495+4_495+14delinsGGACACAGTGC (n.495+4_495+14delinsGGACACAGTGC)
c.219+4_219+14delinsGGACACAGTGC (n.219+4_219+14delinsGGACACAGTGC)
1g.68444518C>TCA2740090752RPE65c.495+13G>A (n.495+13G>A)
c.219+13G>A (n.219+13G>A)
 ClinVar
1g.68444521_68444530delCA902496RPE65c.495+4_495+13del (n.495+4_495+13del)
c.219+4_219+13del (n.219+4_219+13del)
 dbSNP ExAC gnomAD v2
1g.68444519A>CCA2744001072RPE65c.495+12T>G (n.495+12T>G)
c.219+12T>G (n.219+12T>G)
1g.68444519A>GCA2580063205RPE65c.495+12T>C (n.495+12T>C)
c.219+12T>C (n.219+12T>C)
 ClinVar
1g.68444521T>CCA738204451RPE65c.495+10A>G (n.495+10A>G)
c.219+10A>G (n.219+10A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444521T=CA1173563372RPE65c.495+10A= (n.495+10A=)
c.219+10A= (n.219+10A=)
1g.68444522dupCA2744001073RPE65c.495+9dup (n.495+9dup)
c.219+9dup (n.219+9dup)
1g.68444523T>ACA902497RPE65c.495+8A>T (n.495+8A>T)
c.219+8A>T (n.219+8A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444523T>CCA2573131980RPE65c.495+8A>G (n.495+8A>G)
c.219+8A>G (n.219+8A>G)
 ClinVar dbSNP
1g.68444523T=CA1173563373RPE65c.495+8A= (n.495+8A=)
c.219+8A= (n.219+8A=)
1g.68444524G>ACA2580063206RPE65c.495+7C>T (n.495+7C>T)
c.219+7C>T (n.219+7C>T)
 ClinVar
1g.68444526C>ACA2744001074RPE65c.495+5G>T (n.495+5G>T)
c.219+5G>T (n.219+5G>T)
1g.68444526C>GCA2586966743RPE65c.495+5G>C (n.495+5G>C)
c.219+5G>C (n.219+5G>C)
1g.68444527C>TCA2646150290RPE65c.495+4G>A (n.495+4G>A)
c.219+4G>A (n.219+4G>A)
 gnomAD v4
1g.68444528C=CA1173563374RPE65c.495+3G= (n.495+3G=)
c.219+3G= (n.219+3G=)
1g.68444528C>TCA523301776RPE65c.495+3G>A (n.495+3G>A)
c.219+3G>A (n.219+3G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.68444529A=CA1173563375RPE65c.495+2T= (n.495+2T=)
c.219+2T= (n.219+2T=)
1g.68444529A>CCA340747314RPE65c.495+2T>G (n.495+2T>G)
c.219+2T>G (n.219+2T>G)
1g.68444529A>GCA340747310RPE65c.495+2T>C (n.495+2T>C)
c.219+2T>C (n.219+2T>C)
1g.68444529A>TCA340747312RPE65c.495+2T>A (n.495+2T>A)
c.219+2T>A (n.219+2T>A)
1g.68444530C>ACA340747317RPE65c.495+1G>T (n.495+1G>T)
c.219+1G>T (n.219+1G>T)
 dbSNP
1g.68444530C=CA1173563376RPE65c.495+1G= (n.495+1G=)
c.219+1G= (n.219+1G=)
1g.68444530C>GCA340747321RPE65c.495+1G>C (n.495+1G>C)
c.219+1G>C (n.219+1G>C)
1g.68444530C>TCA340747323RPE65c.495+1G>A (n.495+1G>A)
c.219+1G>A (n.219+1G>A)
1g.68444530_68444531delinsCCCA1143538038RPE65c.495_495+1delinsGG
c.219_219+1delinsGG
1g.68444531dupCA226556RPE65c.495+1dup
c.219+1dup
 ClinVar dbSNP
1g.68444531C>ACA340747329RPE65c.495G>T (p.Gln165His)
c.219G>T (p.Gln73His)
1g.68444531C=CA1173563377RPE65c.495G= (p.Gln165=)
c.219G= (p.Gln73=)
1g.68444531C>GCA340747332RPE65c.495G>C (p.Gln165His)
c.219G>C (p.Gln73His)
1g.68444531C>TCA418282673RPE65c.495G>A (p.Gln165=)
c.219G>A (p.Gln73=)
 dbSNP
1g.68444532T>ACA902498RPE65c.494A>T (p.Gln165Leu)
c.218A>T (p.Gln73Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444532T>CCA340747336RPE65c.494A>G (p.Gln165Arg)
c.218A>G (p.Gln73Arg)
1g.68444532T>GCA340747338RPE65c.494A>C (p.Gln165Pro)
c.218A>C (p.Gln73Pro)
1g.68444532T=CA1148227414RPE65c.494A= (p.Gln165=)
c.218A= (p.Gln73=)
1g.68444533G>ACA340747340RPE65c.493C>T (p.Gln165Ter)
c.217C>T (p.Gln73Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444533G>CCA340747343RPE65c.493C>G (p.Gln165Glu)
c.217C>G (p.Gln73Glu)
1g.68444533G=CA1173563378RPE65c.493C= (p.Gln165=)
c.217C= (p.Gln73=)
1g.68444533G>TCA340747345RPE65c.493C>A (p.Gln165Lys)
c.217C>A (p.Gln73Lys)
1g.68444534C>ACA340747349RPE65c.492G>T (p.Lys164Asn)
c.216G>T (p.Lys72Asn)
1g.68444534C>GCA340747347RPE65c.492G>C (p.Lys164Asn)
c.216G>C (p.Lys72Asn)
1g.68444534C>TCA418282674RPE65c.492G>A (p.Lys164=)
c.216G>A (p.Lys72=)
1g.68444535T>ACA340747351RPE65c.491A>T (p.Lys164Met)
c.215A>T (p.Lys72Met)
1g.68444535T>CCA340747354RPE65c.491A>G (p.Lys164Arg)
c.215A>G (p.Lys72Arg)
 gnomAD v4
1g.68444535T>GCA340747357RPE65c.491A>C (p.Lys164Thr)
c.215A>C (p.Lys72Thr)
 dbSNP
1g.68444535T=CA1173563379RPE65c.491A= (p.Lys164=)
c.215A= (p.Lys72=)
1g.68444536T>ACA340747360RPE65c.490A>T (p.Lys164Ter)
c.214A>T (p.Lys72Ter)
1g.68444536T>CCA340747363RPE65c.490A>G (p.Lys164Glu)
c.214A>G (p.Lys72Glu)
1g.68444536T>GCA340747366RPE65c.490A>C (p.Lys164Gln)
c.214A>C (p.Lys72Gln)
1g.68444537A>CCA340747369RPE65c.489T>G (p.Ile163Met)
c.213T>G (p.Ile71Met)
1g.68444537A>GCA418282675RPE65c.489T>C (p.Ile163=)
c.213T>C (p.Ile71=)
1g.68444537A>TCA418282676RPE65c.489T>A (p.Ile163=)
c.213T>A (p.Ile71=)
1g.68444538A>CCA340747372RPE65c.488T>G (p.Ile163Ser)
c.212T>G (p.Ile71Ser)
 COSMIC
1g.68444538A>GCA340747374RPE65c.488T>C (p.Ile163Thr)
c.212T>C (p.Ile71Thr)
1g.68444538A>TCA340747377RPE65c.488T>A (p.Ile163Asn)
c.212T>A (p.Ile71Asn)
1g.68444539T>ACA340747380RPE65c.487A>T (p.Ile163Phe)
c.211A>T (p.Ile71Phe)
1g.68444539T>CCA340747383RPE65c.487A>G (p.Ile163Val)
c.211A>G (p.Ile71Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444539T>GCA340747386RPE65c.487A>C (p.Ile163Leu)
c.211A>C (p.Ile71Leu)
1g.68444539T=CA1173563380RPE65c.487A= (p.Ile163=)
c.211A= (p.Ile71=)
1g.68444540T>ACA418282677RPE65c.486A>T (p.Thr162=)
c.210A>T (p.Thr70=)
 gnomAD v4
1g.68444540T>CCA418282678RPE65c.486A>G (p.Thr162=)
c.210A>G (p.Thr70=)
 dbSNP gnomAD v3 gnomAD v4
1g.68444540T>GCA418282679RPE65c.486A>C (p.Thr162=)
c.210A>C (p.Thr70=)
1g.68444540T=CA1173563381RPE65c.486A= (p.Thr162=)
c.210A= (p.Thr70=)
1g.68444541G>ACA340747410RPE65c.485C>T (p.Thr162Ile)
c.209C>T (p.Thr70Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444541G>CCA340747399RPE65c.485C>G (p.Thr162Arg)
c.209C>G (p.Thr70Arg)
1g.68444541G=CA1173563382RPE65c.485C= (p.Thr162=)
c.209C= (p.Thr70=)
1g.68444541G>TCA340747407RPE65c.485C>A (p.Thr162Lys)
c.209C>A (p.Thr70Lys)
1g.68444542T>ACA340747413RPE65c.484A>T (p.Thr162Ser)
c.208A>T (p.Thr70Ser)
 gnomAD v4
1g.68444542T>CCA340747416RPE65c.484A>G (p.Thr162Ala)
c.208A>G (p.Thr70Ala)
1g.68444542T>GCA902499RPE65c.484A>C (p.Thr162Pro)
c.208A>C (p.Thr70Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444542T=CA1173563383RPE65c.484A= (p.Thr162=)
c.208A= (p.Thr70=)
1g.68444543C>ACA340747421RPE65c.483G>T (p.Glu161Asp)
c.207G>T (p.Glu69Asp)
1g.68444543C>GCA340747422RPE65c.483G>C (p.Glu161Asp)
c.207G>C (p.Glu69Asp)
1g.68444543C>TCA418282680RPE65c.483G>A (p.Glu161=)
c.207G>A (p.Glu69=)
 dbSNP
1g.68444544T>ACA340747424RPE65c.482A>T (p.Glu161Val)
c.206A>T (p.Glu69Val)
1g.68444544T>CCA340747428RPE65c.482A>G (p.Glu161Gly)
c.206A>G (p.Glu69Gly)
1g.68444544T>GCA340747429RPE65c.482A>C (p.Glu161Ala)
c.206A>C (p.Glu69Ala)
1g.68444545C>ACA340747432RPE65c.481G>T (p.Glu161Ter)
c.205G>T (p.Glu69Ter)
1g.68444545C>GCA340747434RPE65c.481G>C (p.Glu161Gln)
c.205G>C (p.Glu69Gln)
1g.68444545C>TCA340747437RPE65c.481G>A (p.Glu161Lys)
c.205G>A (p.Glu69Lys)
1g.68444546C>ACA340747440RPE65c.480G>T (p.Leu160Phe)
c.204G>T (p.Leu68Phe)
1g.68444546C=CA1173563384RPE65c.480G= (p.Leu160=)
c.204G= (p.Leu68=)
1g.68444546C>GCA340747443RPE65c.480G>C (p.Leu160Phe)
c.204G>C (p.Leu68Phe)
1g.68444546C>TCA418282681RPE65c.480G>A (p.Leu160=)
c.204G>A (p.Leu68=)
 dbSNP COSMIC
1g.68444547A>CCA340747449RPE65c.479T>G (p.Leu160Trp)
c.203T>G (p.Leu68Trp)
1g.68444547A>GCA340747452RPE65c.479T>C (p.Leu160Ser)
c.203T>C (p.Leu68Ser)
1g.68444547A>TCA340747446RPE65c.479T>A (p.Leu160Ter)
c.203T>A (p.Leu68Ter)
1g.68444548A>CCA340747462RPE65c.478T>G (p.Leu160Val)
c.202T>G (p.Leu68Val)
1g.68444548A>GCA418282682RPE65c.478T>C (p.Leu160=)
c.202T>C (p.Leu68=)
1g.68444548A>TCA340747460RPE65c.478T>A (p.Leu160Met)
c.202T>A (p.Leu68Met)
1g.68444549G>ACA418282683RPE65c.477C>T (p.Thr159=)
c.201C>T (p.Thr67=)
1g.68444549G>CCA418282684RPE65c.477C>G (p.Thr159=)
c.201C>G (p.Thr67=)
1g.68444549G>TCA418282685RPE65c.477C>A (p.Thr159=)
c.201C>A (p.Thr67=)
 COSMIC
1g.68444550G>ACA340747481RPE65c.476C>T (p.Thr159Ile)
c.200C>T (p.Thr67Ile)
 dbSNP
1g.68444550G>CCA340747467RPE65c.476C>G (p.Thr159Ser)
c.200C>G (p.Thr67Ser)
1g.68444550G=CA1173563385RPE65c.476C= (p.Thr159=)
c.200C= (p.Thr67=)
1g.68444550G>TCA340747478RPE65c.476C>A (p.Thr159Asn)
c.200C>A (p.Thr67Asn)
1g.68444551T>ACA340747484RPE65c.475A>T (p.Thr159Ser)
c.199A>T (p.Thr67Ser)
 dbSNP gnomAD v4
1g.68444551T>CCA340747487RPE65c.475A>G (p.Thr159Ala)
c.199A>G (p.Thr67Ala)
1g.68444551T>GCA340747490RPE65c.475A>C (p.Thr159Pro)
c.199A>C (p.Thr67Pro)
1g.68444551T=CA1173563386RPE65c.475A= (p.Thr159=)
c.199A= (p.Thr67=)
1g.68444552C>ACA340747499RPE65c.474G>T (p.Glu158Asp)
c.198G>T (p.Glu66Asp)
1g.68444552C=CA1173563387RPE65c.474G= (p.Glu158=)
c.198G= (p.Glu66=)
1g.68444552C>GCA340747500RPE65c.474G>C (p.Glu158Asp)
c.198G>C (p.Glu66Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444552C>TCA418282686RPE65c.474G>A (p.Glu158=)
c.198G>A (p.Glu66=)
1g.68444553T>ACA340747502RPE65c.473A>T (p.Glu158Val)
c.197A>T (p.Glu66Val)
1g.68444553T>CCA340747505RPE65c.473A>G (p.Glu158Gly)
c.197A>G (p.Glu66Gly)
1g.68444553T>GCA340747504RPE65c.473A>C (p.Glu158Ala)
c.197A>C (p.Glu66Ala)
1g.68444554C>ACA340747506RPE65c.472G>T (p.Glu158Ter)
c.196G>T (p.Glu66Ter)
 dbSNP
1g.68444554C=CA1173563388RPE65c.472G= (p.Glu158=)
c.196G= (p.Glu66=)
1g.68444554C>GCA23574724RPE65c.472G>C (p.Glu158Gln)
c.196G>C (p.Glu66Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444554C>TCA340747507RPE65c.472G>A (p.Glu158Lys)
c.196G>A (p.Glu66Lys)
 gnomAD v4
1g.68444555T>ACA902500RPE65c.471A>T (p.Pro157=)
c.195A>T (p.Pro65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444555T>CCA418282687RPE65c.471A>G (p.Pro157=)
c.195A>G (p.Pro65=)
1g.68444555T>GCA418282688RPE65c.471A>C (p.Pro157=)
c.195A>C (p.Pro65=)
1g.68444555T=CA1173563389RPE65c.471A= (p.Pro157=)
c.195A= (p.Pro65=)
1g.68444556G>ACA340747510RPE65c.470C>T (p.Pro157Leu)
c.194C>T (p.Pro65Leu)
1g.68444556G>CCA340747516RPE65c.470C>G (p.Pro157Arg)
c.194C>G (p.Pro65Arg)
 dbSNP gnomAD v4
1g.68444556G=CA1173563390RPE65c.470C= (p.Pro157=)
c.194C= (p.Pro65=)
1g.68444556G>TCA340747513RPE65c.470C>A (p.Pro157Gln)
c.194C>A (p.Pro65Gln)
1g.68444557G>ACA340747519RPE65c.469C>T (p.Pro157Ser)
c.193C>T (p.Pro65Ser)
1g.68444557G>CCA340747521RPE65c.469C>G (p.Pro157Ala)
c.193C>G (p.Pro65Ala)
1g.68444557G>TCA340747524RPE65c.469C>A (p.Pro157Thr)
c.193C>A (p.Pro65Thr)
1g.68444558A>CCA340747526RPE65c.468T>G (p.Asn156Lys)
c.192T>G (p.Asn64Lys)
1g.68444558A>GCA418282689RPE65c.468T>C (p.Asn156=)
c.192T>C (p.Asn64=)
1g.68444558A>TCA340747531RPE65c.468T>A (p.Asn156Lys)
c.192T>A (p.Asn64Lys)
1g.68444559T>ACA340747533RPE65c.467A>T (p.Asn156Ile)
c.191A>T (p.Asn64Ile)
 gnomAD v4
1g.68444559T>CCA340747535RPE65c.467A>G (p.Asn156Ser)
c.191A>G (p.Asn64Ser)
1g.68444559T>GCA340747537RPE65c.467A>C (p.Asn156Thr)
c.191A>C (p.Asn64Thr)
1g.68444560T>ACA340747540RPE65c.466A>T (p.Asn156Tyr)
c.190A>T (p.Asn64Tyr)
1g.68444560T>CCA340747541RPE65c.466A>G (p.Asn156Asp)
c.190A>G (p.Asn64Asp)
1g.68444560T>GCA340747542RPE65c.466A>C (p.Asn156His)
c.190A>C (p.Asn64His)
1g.68444561A>CCA340747543RPE65c.465T>G (p.Ile155Met)
c.189T>G (p.Ile63Met)
1g.68444561A>GCA418282690RPE65c.465T>C (p.Ile155=)
c.189T>C (p.Ile63=)
1g.68444561A>TCA418282691RPE65c.465T>A (p.Ile155=)
c.189T>A (p.Ile63=)
1g.68444562A=CA1173563391RPE65c.464T= (p.Ile155=)
c.188T= (p.Ile63=)
1g.68444562A>CCA340747548RPE65c.464T>G (p.Ile155Ser)
c.188T>G (p.Ile63Ser)
1g.68444562A>GCA902501RPE65c.464T>C (p.Ile155Thr)
c.188T>C (p.Ile63Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444562A>TCA340747546RPE65c.464T>A (p.Ile155Asn)
c.188T>A (p.Ile63Asn)
1g.68444563T>ACA340747551RPE65c.463A>T (p.Ile155Phe)
c.187A>T (p.Ile63Phe)
1g.68444563T>CCA340747553RPE65c.463A>G (p.Ile155Val)
c.187A>G (p.Ile63Val)
1g.68444563T>GCA340747556RPE65c.463A>C (p.Ile155Leu)
c.187A>C (p.Ile63Leu)
1g.68444564C>ACA340747559RPE65c.462G>T (p.Lys154Asn)
c.186G>T (p.Lys62Asn)
 gnomAD v4
1g.68444564C>GCA340747561RPE65c.462G>C (p.Lys154Asn)
c.186G>C (p.Lys62Asn)
 ClinVar dbSNP gnomAD v4
1g.68444564C>TCA418282692RPE65c.462G>A (p.Lys154=)
c.186G>A (p.Lys62=)
1g.68444565T>ACA340747564RPE65c.461A>T (p.Lys154Met)
c.185A>T (p.Lys62Met)
1g.68444565T>CCA340747569RPE65c.461A>G (p.Lys154Arg)
c.185A>G (p.Lys62Arg)
 COSMIC
1g.68444565T>GCA340747567RPE65c.461A>C (p.Lys154Thr)
c.185A>C (p.Lys62Thr)
1g.68444567dupCA2574402990RPE65c.461dup (p.Ile155AspfsTer2)
c.185dup (p.Ile63AspfsTer2)
1g.68444566T>ACA340747571RPE65c.460A>T (p.Lys154Ter)
c.184A>T (p.Lys62Ter)
1g.68444566T>CCA340747581RPE65c.460A>G (p.Lys154Glu)
c.184A>G (p.Lys62Glu)
1g.68444566T>GCA340747582RPE65c.460A>C (p.Lys154Gln)
c.184A>C (p.Lys62Gln)
1g.68444567T>ACA418282693RPE65c.459A>T (p.Thr153=)
c.183A>T (p.Thr61=)
1g.68444567T>CCA902502RPE65c.459A>G (p.Thr153=)
c.183A>G (p.Thr61=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444567T>GCA418282694RPE65c.459A>C (p.Thr153=)
c.183A>C (p.Thr61=)
 ClinVar
1g.68444567T=CA1173563392RPE65c.459A= (p.Thr153=)
c.183A= (p.Thr61=)
1g.68444568G>ACA340747583RPE65c.458C>T (p.Thr153Ile)
c.182C>T (p.Thr61Ile)
 COSMIC
1g.68444568G>CCA340747587RPE65c.458C>G (p.Thr153Arg)
c.182C>G (p.Thr61Arg)
1g.68444568G>TCA340747585RPE65c.458C>A (p.Thr153Lys)
c.182C>A (p.Thr61Lys)
1g.68444569T>ACA23574735RPE65c.457A>T (p.Thr153Ser)
c.181A>T (p.Thr61Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.68444569T>CCA902503RPE65c.457A>G (p.Thr153Ala)
c.181A>G (p.Thr61Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444569T>GCA340747596RPE65c.457A>C (p.Thr153Pro)
c.181A>C (p.Thr61Pro)
1g.68444569T=CA1173563393RPE65c.457A= (p.Thr153=)
c.181A= (p.Thr61=)
1g.68444570A=CA1173563394RPE65c.456T= (p.Ile152=)
c.180T= (p.Ile60=)
1g.68444570A>CCA340747600RPE65c.456T>G (p.Ile152Met)
c.180T>G (p.Ile60Met)
1g.68444570A>GCA902504RPE65c.456T>C (p.Ile152=)
c.180T>C (p.Ile60=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444570A>TCA418282695RPE65c.456T>A (p.Ile152=)
c.180T>A (p.Ile60=)
1g.68444571A>CCA340747606RPE65c.455T>G (p.Ile152Ser)
c.179T>G (p.Ile60Ser)
1g.68444571A>GCA340747609RPE65c.455T>C (p.Ile152Thr)
c.179T>C (p.Ile60Thr)
 ClinVar
1g.68444571A>TCA340747610RPE65c.455T>A (p.Ile152Asn)
c.179T>A (p.Ile60Asn)
1g.68444572T>ACA340747613RPE65c.454A>T (p.Ile152Phe)
c.178A>T (p.Ile60Phe)
1g.68444572T>CCA340747615RPE65c.454A>G (p.Ile152Val)
c.178A>G (p.Ile60Val)
 dbSNP gnomAD v4
1g.68444572T>GCA340747618RPE65c.454A>C (p.Ile152Leu)
c.178A>C (p.Ile60Leu)
 dbSNP gnomAD v4
1g.68444572T=CA1173563395RPE65c.454A= (p.Ile152=)
c.178A= (p.Ile60=)
1g.68444573A>CCA340747625RPE65c.453T>G (p.Phe151Leu)
c.177T>G (p.Phe59Leu)
1g.68444573A>GCA418282696RPE65c.453T>C (p.Phe151=)
c.177T>C (p.Phe59=)
1g.68444573A>TCA340747622RPE65c.453T>A (p.Phe151Leu)
c.177T>A (p.Phe59Leu)
1g.68444574A>CCA340747627RPE65c.452T>G (p.Phe151Cys)
c.176T>G (p.Phe59Cys)
1g.68444574A>GCA340747630RPE65c.452T>C (p.Phe151Ser)
c.176T>C (p.Phe59Ser)
1g.68444574A>TCA340747632RPE65c.452T>A (p.Phe151Tyr)
c.176T>A (p.Phe59Tyr)
 gnomAD v4
1g.68444575A=CA1173563396RPE65c.451T= (p.Phe151=)
c.175T= (p.Phe59=)
1g.68444575A>CCA340747635RPE65c.451T>G (p.Phe151Val)
c.175T>G (p.Phe59Val)
1g.68444575A>GCA340747636RPE65c.451T>C (p.Phe151Leu)
c.175T>C (p.Phe59Leu)
 dbSNP
1g.68444575A>TCA340747639RPE65c.451T>A (p.Phe151Ile)
c.175T>A (p.Phe59Ile)
1g.68444576G>ACA902505RPE65c.450C>T (p.Asn150=)
c.174C>T (p.Asn58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444576G>CCA340747645RPE65c.450C>G (p.Asn150Lys)
c.174C>G (p.Asn58Lys)
1g.68444576G=CA1143700994RPE65c.450C= (p.Asn150=)
c.174C= (p.Asn58=)
1g.68444576G>TCA340747642RPE65c.450C>A (p.Asn150Lys)
c.174C>A (p.Asn58Lys)
 gnomAD v4
1g.68444577T>ACA340747650RPE65c.449A>T (p.Asn150Ile)
c.173A>T (p.Asn58Ile)
 COSMIC
1g.68444577T>CCA23574788RPE65c.449A>G (p.Asn150Ser)
c.173A>G (p.Asn58Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444577T>GCA340747654RPE65c.449A>C (p.Asn150Thr)
c.173A>C (p.Asn58Thr)
1g.68444577T=CA1173563397RPE65c.449A= (p.Asn150=)
c.173A= (p.Asn58=)
1g.68444578T>ACA340747659RPE65c.448A>T (p.Asn150Tyr)
c.172A>T (p.Asn58Tyr)
1g.68444578T>CCA340747661RPE65c.448A>G (p.Asn150Asp)
c.172A>G (p.Asn58Asp)
1g.68444578T>GCA340747663RPE65c.448A>C (p.Asn150His)
c.172A>C (p.Asn58His)
1g.68444579G>ACA418282697RPE65c.447C>T (p.Thr149=)
c.171C>T (p.Thr57=)
 ClinVar dbSNP
1g.68444579G>CCA418282698RPE65c.447C>G (p.Thr149=)
c.171C>G (p.Thr57=)
 dbSNP
1g.68444579G=CA1173563398RPE65c.447C= (p.Thr149=)
c.171C= (p.Thr57=)
1g.68444579G>TCA902506RPE65c.447C>A (p.Thr149=)
c.171C>A (p.Thr57=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444580G>ACA340747670RPE65c.446C>T (p.Thr149Ile)
c.170C>T (p.Thr57Ile)
1g.68444580G>CCA340747675RPE65c.446C>G (p.Thr149Ser)
c.170C>G (p.Thr57Ser)
1g.68444580G>TCA340747672RPE65c.446C>A (p.Thr149Asn)
c.170C>A (p.Thr57Asn)
 gnomAD v4
1g.68444580_68444582delinsGTCCA1173563399RPE65c.444_446delinsGAC (p.Glu148=)
c.168_170delinsGAC (p.Glu56=)
1g.68444581T>ACA340747678RPE65c.445A>T (p.Thr149Ser)
c.169A>T (p.Thr57Ser)
1g.68444581T>CCA23574806RPE65c.445A>G (p.Thr149Ala)
c.169A>G (p.Thr57Ala)
 dbSNP
1g.68444581T>GCA340747681RPE65c.445A>C (p.Thr149Pro)
c.169A>C (p.Thr57Pro)
1g.68444581T=CA1173563401RPE65c.445A= (p.Thr149=)
c.169A= (p.Thr57=)
1g.68444584_68444585delCA1173563400RPE65c.444_445del (p.Glu148AspfsTer8)
c.168_169del (p.Glu56AspfsTer8)
 ClinVar dbSNP
1g.68444582C>ACA226553RPE65c.444G>T (p.Glu148Asp)
c.168G>T (p.Glu56Asp)
 ClinVar dbSNP
1g.68444582C=CA1140725789RPE65c.444G= (p.Glu148=)
c.168G= (p.Glu56=)
1g.68444582C>GCA340747683RPE65c.444G>C (p.Glu148Asp)
c.168G>C (p.Glu56Asp)
1g.68444582C>TCA418282699RPE65c.444G>A (p.Glu148=)
c.168G>A (p.Glu56=)
1g.68444583T>ACA340747686RPE65c.443A>T (p.Glu148Val)
c.167A>T (p.Glu56Val)
1g.68444583T>CCA340747687RPE65c.443A>G (p.Glu148Gly)
c.167A>G (p.Glu56Gly)
 gnomAD v4
1g.68444583T>GCA340747691RPE65c.443A>C (p.Glu148Ala)
c.167A>C (p.Glu56Ala)

Number of alleles fetched