Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68438228G>ACA902299RPE65c.1087C>T (p.Pro363Ser)
c.811C>T (p.Pro271Ser)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
1g.68438228G>CCA340744124RPE65c.1087C>G (p.Pro363Ala)
c.811C>G (p.Pro271Ala)
 gnomAD v4
1g.68438228G=CA1141580844RPE65c.1087C= (p.Pro363=)
c.811C= (p.Pro271=)
1g.68438228G>TCA256730RPE65c.1087C>A (p.Pro363Thr)
c.811C>A (p.Pro271Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438229T>ACA340744128RPE65c.1086A>T (p.Gln362His)
c.810A>T (p.Gln270His)
1g.68438229T>CCA902300RPE65c.1086A>G (p.Gln362=)
c.810A>G (p.Gln270=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68438229T>GCA340744125RPE65c.1086A>C (p.Gln362His)
c.810A>C (p.Gln270His)
 dbSNP
1g.68438229T=CA1173560852RPE65c.1086A= (p.Gln362=)
c.810A= (p.Gln270=)
1g.68438230T>ACA340744130RPE65c.1085A>T (p.Gln362Leu)
c.809A>T (p.Gln270Leu)
1g.68438230T>CCA340744131RPE65c.1085A>G (p.Gln362Arg)
c.809A>G (p.Gln270Arg)
1g.68438230T>GCA340744133RPE65c.1085A>C (p.Gln362Pro)
c.809A>C (p.Gln270Pro)
1g.68438231G>ACA340744135RPE65c.1084C>T (p.Gln362Ter)
c.808C>T (p.Gln270Ter)
 ClinVar dbSNP
1g.68438231G>CCA340744137RPE65c.1084C>G (p.Gln362Glu)
c.808C>G (p.Gln270Glu)
1g.68438231G=CA1173560853RPE65c.1084C= (p.Gln362=)
c.808C= (p.Gln270=)
1g.68438231G>TCA340744138RPE65c.1084C>A (p.Gln362Lys)
c.808C>A (p.Gln270Lys)
1g.68438232G>ACA418279125RPE65c.1083C>T (p.Pro361=)
c.807C>T (p.Pro269=)
1g.68438232G>CCA418279127RPE65c.1083C>G (p.Pro361=)
c.807C>G (p.Pro269=)
 COSMIC
1g.68438232G=CA1173560854RPE65c.1083C= (p.Pro361=)
c.807C= (p.Pro269=)
1g.68438232G>TCA902301RPE65c.1083C>A (p.Pro361=)
c.807C>A (p.Pro269=)
 ClinVar dbSNP ExAC gnomAD v2
1g.68438233G>ACA340744139RPE65c.1082C>T (p.Pro361Leu)
c.806C>T (p.Pro269Leu)
 gnomAD v4
1g.68438233G>CCA340744141RPE65c.1082C>G (p.Pro361Arg)
c.806C>G (p.Pro269Arg)
1g.68438233G=CA1173560855RPE65c.1082C= (p.Pro361=)
c.806C= (p.Pro269=)
1g.68438233G>TCA340744140RPE65c.1082C>A (p.Pro361His)
c.806C>A (p.Pro269His)
 dbSNP gnomAD v3 gnomAD v4
1g.68438234G>ACA340744143RPE65c.1081C>T (p.Pro361Ser)
c.805C>T (p.Pro269Ser)
1g.68438234G>CCA340744144RPE65c.1081C>G (p.Pro361Ala)
c.805C>G (p.Pro269Ala)
1g.68438234G>TCA340744145RPE65c.1081C>A (p.Pro361Thr)
c.805C>A (p.Pro269Thr)
1g.68438235A>CCA418279137RPE65c.1080T>G (p.Ala360=)
c.804T>G (p.Ala268=)
1g.68438235A>GCA418279140RPE65c.1080T>C (p.Ala360=)
c.804T>C (p.Ala268=)
1g.68438235A>TCA418279138RPE65c.1080T>A (p.Ala360=)
c.804T>A (p.Ala268=)
1g.68438236_68438247delCA2586966729RPE65c.1069_1080del (p.Ala357_Ala360del)
c.793_804del (p.Ala265_Ala268del)
1g.68438236G>ACA23569436RPE65c.1079C>T (p.Ala360Val)
c.803C>T (p.Ala268Val)
 dbSNP
1g.68438236G>CCA340744149RPE65c.1079C>G (p.Ala360Gly)
c.803C>G (p.Ala268Gly)
1g.68438236G=CA1147289711RPE65c.1079C= (p.Ala360=)
c.803C= (p.Ala268=)
1g.68438236G>TCA340744150RPE65c.1079C>A (p.Ala360Asp)
c.803C>A (p.Ala268Asp)
1g.68438237C>ACA902302RPE65c.1078G>T (p.Ala360Ser)
c.802G>T (p.Ala268Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68438237C=CA1140762626RPE65c.1078G= (p.Ala360=)
c.802G= (p.Ala268=)
1g.68438237C>GCA226480RPE65c.1078G>C (p.Ala360Pro)
c.802G>C (p.Ala268Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68438237C>TCA340744155RPE65c.1078G>A (p.Ala360Thr)
c.802G>A (p.Ala268Thr)
 ClinVar dbSNP
1g.68438238C>ACA340744157RPE65c.1077G>T (p.Lys359Asn)
c.801G>T (p.Lys267Asn)
1g.68438238C=CA1146694897RPE65c.1077G= (p.Lys359=)
c.801G= (p.Lys267=)
1g.68438238C>GCA902304RPE65c.1077G>C (p.Lys359Asn)
c.801G>C (p.Lys267Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438238C>TCA902303RPE65c.1077G>A (p.Lys359=)
c.801G>A (p.Lys267=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68438239T>ACA340744160RPE65c.1076A>T (p.Lys359Met)
c.800A>T (p.Lys267Met)
1g.68438239T>CCA340744162RPE65c.1076A>G (p.Lys359Arg)
c.800A>G (p.Lys267Arg)
1g.68438239T>GCA340744161RPE65c.1076A>C (p.Lys359Thr)
c.800A>C (p.Lys267Thr)
1g.68438240T>ACA340744163RPE65c.1075A>T (p.Lys359Ter)
c.799A>T (p.Lys267Ter)
1g.68438240T>CCA340744164RPE65c.1075A>G (p.Lys359Glu)
c.799A>G (p.Lys267Glu)
1g.68438240T>GCA340744165RPE65c.1075A>C (p.Lys359Gln)
c.799A>C (p.Lys267Gln)
1g.68438241T>ACA340744167RPE65c.1074A>T (p.Arg358Ser)
c.798A>T (p.Arg266Ser)
1g.68438241T>CCA418279160RPE65c.1074A>G (p.Arg358=)
c.798A>G (p.Arg266=)
1g.68438241T>GCA340744168RPE65c.1074A>C (p.Arg358Ser)
c.798A>C (p.Arg266Ser)
1g.68438242C>ACA340744170RPE65c.1073G>T (p.Arg358Ile)
c.797G>T (p.Arg266Ile)
1g.68438242C>GCA340744171RPE65c.1073G>C (p.Arg358Thr)
c.797G>C (p.Arg266Thr)
1g.68438242C>TCA340744172RPE65c.1073G>A (p.Arg358Lys)
c.797G>A (p.Arg266Lys)
1g.68438243T>ACA340744178RPE65c.1072A>T (p.Arg358Ter)
c.796A>T (p.Arg266Ter)
1g.68438243T>CCA340744179RPE65c.1072A>G (p.Arg358Gly)
c.796A>G (p.Arg266Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.68438243T>GCA418279166RPE65c.1072A>C (p.Arg358=)
c.796A>C (p.Arg266=)
 ClinVar dbSNP gnomAD v2
1g.68438243T=CA1173560856RPE65c.1072A= (p.Arg358=)
c.796A= (p.Arg266=)
1g.68438244G>ACA418279168RPE65c.1071C>T (p.Ala357=)
c.795C>T (p.Ala265=)
1g.68438244G>CCA418279170RPE65c.1071C>G (p.Ala357=)
c.795C>G (p.Ala265=)
 ClinVar
1g.68438244G>TCA418279172RPE65c.1071C>A (p.Ala357=)
c.795C>A (p.Ala265=)
1g.68438245G>ACA340744181RPE65c.1070C>T (p.Ala357Val)
c.794C>T (p.Ala265Val)
 gnomAD v4
1g.68438245G>CCA340744183RPE65c.1070C>G (p.Ala357Gly)
c.794C>G (p.Ala265Gly)
1g.68438245G=CA1142903482RPE65c.1070C= (p.Ala357=)
c.794C= (p.Ala265=)
1g.68438245G>TCA902305RPE65c.1070C>A (p.Ala357Asp)
c.794C>A (p.Ala265Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68438245_68438246insACA2586966730RPE65c.1069_1070insT (p.Ala357ValfsTer8)
c.793_794insT (p.Ala265ValfsTer8)
1g.68438246C>ACA902306RPE65c.1069G>T (p.Ala357Ser)
c.793G>T (p.Ala265Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438246C=CA1148410168RPE65c.1069G= (p.Ala357=)
c.793G= (p.Ala265=)
1g.68438246C>GCA340744187RPE65c.1069G>C (p.Ala357Pro)
c.793G>C (p.Ala265Pro)
1g.68438246C>TCA340744189RPE65c.1069G>A (p.Ala357Thr)
c.793G>A (p.Ala265Thr)
1g.68438247A>CCA340744191RPE65c.1068T>G (p.Asn356Lys)
c.792T>G (p.Asn264Lys)
1g.68438247A>GCA418279180RPE65c.1068T>C (p.Asn356=)
c.792T>C (p.Asn264=)
 gnomAD v4
1g.68438247A>TCA340744193RPE65c.1068T>A (p.Asn356Lys)
c.792T>A (p.Asn264Lys)
 gnomAD v4
1g.68438247_68438248delinsATCA1173560857RPE65c.1067_1068delinsAT (p.Asn356=)
c.791_792delinsAT (p.Asn264=)
1g.68438248T>ACA340744196RPE65c.1067A>T (p.Asn356Ile)
c.791A>T (p.Asn264Ile)
1g.68438248T>CCA340744198RPE65c.1067A>G (p.Asn356Ser)
c.791A>G (p.Asn264Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.68438248T>GCA340744200RPE65c.1067A>C (p.Asn356Thr)
c.791A>C (p.Asn264Thr)
1g.68438248T=CA1173560858RPE65c.1067A= (p.Asn356=)
c.791A= (p.Asn264=)
1g.68438248_68438255delinsTTTTTTTTCA1143538036RPE65c.1060_1067delinsAAAAAAAA (p.Lys354=)
c.784_791delinsAAAAAAAA (p.Lys262=)
1g.68438255dupCA902307RPE65c.1067dup (p.Asn356LysfsTer9)
c.791dup (p.Asn264LysfsTer9)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.68438255delCA226477RPE65c.1067del (p.Asn356MetfsTer17)
c.791del (p.Asn264MetfsTer17)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.68438248_68438249insACA418279181RPE65c.1066_1067insT (p.Asn356IlefsTer9)
c.790_791insT (p.Asn264IlefsTer9)
1g.68438249T>ACA340744202RPE65c.1066A>T (p.Asn356Tyr)
c.790A>T (p.Asn264Tyr)
1g.68438249T>CCA340744204RPE65c.1066A>G (p.Asn356Asp)
c.790A>G (p.Asn264Asp)
1g.68438249T>GCA340744206RPE65c.1066A>C (p.Asn356His)
c.790A>C (p.Asn264His)
1g.68438250T>ACA340744207RPE65c.1065A>T (p.Lys355Asn)
c.789A>T (p.Lys263Asn)
1g.68438250T>CCA418279182RPE65c.1065A>G (p.Lys355=)
c.789A>G (p.Lys263=)
 ClinVar
1g.68438250T>GCA340744208RPE65c.1065A>C (p.Lys355Asn)
c.789A>C (p.Lys263Asn)
1g.68438251T>ACA340744210RPE65c.1064A>T (p.Lys355Ile)
c.788A>T (p.Lys263Ile)
1g.68438251T>CCA340744214RPE65c.1064A>G (p.Lys355Arg)
c.788A>G (p.Lys263Arg)
1g.68438251T>GCA340744212RPE65c.1064A>C (p.Lys355Thr)
c.788A>C (p.Lys263Thr)
1g.68438252T>ACA340744215RPE65c.1063A>T (p.Lys355Ter)
c.787A>T (p.Lys263Ter)
1g.68438252T>CCA340744216RPE65c.1063A>G (p.Lys355Glu)
c.787A>G (p.Lys263Glu)
1g.68438252T>GCA340744219RPE65c.1063A>C (p.Lys355Gln)
c.787A>C (p.Lys263Gln)
1g.68438253T>ACA340744220RPE65c.1062A>T (p.Lys354Asn)
c.786A>T (p.Lys262Asn)
1g.68438253T>CCA418279183RPE65c.1062A>G (p.Lys354=)
c.786A>G (p.Lys262=)
 ClinVar dbSNP gnomAD v4
1g.68438253T>GCA340744221RPE65c.1062A>C (p.Lys354Asn)
c.786A>C (p.Lys262Asn)
1g.68438254T>ACA340744225RPE65c.1061A>T (p.Lys354Ile)
c.785A>T (p.Lys262Ile)
1g.68438254T>CCA340744224RPE65c.1061A>G (p.Lys354Arg)
c.785A>G (p.Lys262Arg)
1g.68438254T>GCA340744223RPE65c.1061A>C (p.Lys354Thr)
c.785A>C (p.Lys262Thr)
1g.68438255T>ACA340744228RPE65c.1060A>T (p.Lys354Ter)
c.784A>T (p.Lys262Ter)
1g.68438255T>CCA340744230RPE65c.1060A>G (p.Lys354Glu)
c.784A>G (p.Lys262Glu)
 ClinVar gnomAD v4
1g.68438255T>GCA340744231RPE65c.1060A>C (p.Lys354Gln)
c.784A>C (p.Lys262Gln)
1g.68438256C>ACA418279186RPE65c.1059G>T (p.Val353=)
c.783G>T (p.Val261=)
1g.68438256C>GCA418279188RPE65c.1059G>C (p.Val353=)
c.783G>C (p.Val261=)
1g.68438256C>TCA418279187RPE65c.1059G>A (p.Val353=)
c.783G>A (p.Val261=)
1g.68438256dupCA2573132575RPE65c.1059dup (p.Lys354GlufsTer11)
c.783dup (p.Lys262GlufsTer11)
 ClinVar dbSNP
1g.68438256_68438259delCA1002830658RPE65c.1056_1059del (p.Val353LysfsTer19)
c.780_783del (p.Val261LysfsTer19)
 gnomAD v3 gnomAD v4
1g.68438257A>CCA340744233RPE65c.1058T>G (p.Val353Gly)
c.782T>G (p.Val261Gly)
 ClinVar dbSNP
1g.68438257A>GCA340744234RPE65c.1058T>C (p.Val353Ala)
c.782T>C (p.Val261Ala)
1g.68438257A>TCA340744236RPE65c.1058T>A (p.Val353Glu)
c.782T>A (p.Val261Glu)
 gnomAD v4
1g.68438258C>ACA340744242RPE65c.1057G>T (p.Val353Leu)
c.781G>T (p.Val261Leu)
1g.68438258C>GCA340744238RPE65c.1057G>C (p.Val353Leu)
c.781G>C (p.Val261Leu)
1g.68438258C>TCA340744241RPE65c.1057G>A (p.Val353Met)
c.781G>A (p.Val261Met)
1g.68438259C>ACA902308RPE65c.1056G>T (p.Glu352Asp)
c.780G>T (p.Glu260Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438259C=CA1140387781RPE65c.1056G= (p.Glu352=)
c.780G= (p.Glu260=)
1g.68438259C>GCA340744244RPE65c.1056G>C (p.Glu352Asp)
c.780G>C (p.Glu260Asp)
1g.68438259C>TCA285811RPE65c.1056G>A (p.Glu352=)
c.780G>A (p.Glu260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68438260T>ACA340744246RPE65c.1055A>T (p.Glu352Val)
c.779A>T (p.Glu260Val)
1g.68438260T>CCA340744247RPE65c.1055A>G (p.Glu352Gly)
c.779A>G (p.Glu260Gly)
1g.68438260T>GCA340744248RPE65c.1055A>C (p.Glu352Ala)
c.779A>C (p.Glu260Ala)
1g.68438261C>ACA340744249RPE65c.1054G>T (p.Glu352Ter)
c.778G>T (p.Glu260Ter)
 COSMIC
1g.68438261C>GCA340744251RPE65c.1054G>C (p.Glu352Gln)
c.778G>C (p.Glu260Gln)
1g.68438261C>TCA340744253RPE65c.1054G>A (p.Glu352Lys)
c.778G>A (p.Glu260Lys)
 gnomAD v3 gnomAD v4
1g.68438262T>ACA340744255RPE65c.1053A>T (p.Glu351Asp)
c.777A>T (p.Glu259Asp)
1g.68438262T>CCA226475RPE65c.1053A>G (p.Glu351=)
c.777A>G (p.Glu259=)
 ClinVar dbSNP
1g.68438262T>GCA340744257RPE65c.1053A>C (p.Glu351Asp)
c.777A>C (p.Glu259Asp)
1g.68438262T=CA1140762629RPE65c.1053A= (p.Glu351=)
c.777A= (p.Glu259=)
1g.68438263T>ACA340744260RPE65c.1052A>T (p.Glu351Val)
c.776A>T (p.Glu259Val)
1g.68438263T>CCA340744262RPE65c.1052A>G (p.Glu351Gly)
c.776A>G (p.Glu259Gly)
1g.68438263T>GCA340744261RPE65c.1052A>C (p.Glu351Ala)
c.776A>C (p.Glu259Ala)
1g.68438264C>ACA340744263RPE65c.1051G>T (p.Glu351Ter)
c.775G>T (p.Glu259Ter)
1g.68438264C=CA1173560859RPE65c.1051G= (p.Glu351=)
c.775G= (p.Glu259=)
1g.68438264C>GCA340744264RPE65c.1051G>C (p.Glu351Gln)
c.775G>C (p.Glu259Gln)
1g.68438264C>TCA340744266RPE65c.1051G>A (p.Glu351Lys)
c.775G>A (p.Glu259Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.68438265C>ACA340744268RPE65c.1050G>T (p.Trp350Cys)
c.774G>T (p.Trp258Cys)
 dbSNP
1g.68438265C=CA1173560860RPE65c.1050G= (p.Trp350=)
c.774G= (p.Trp258=)
1g.68438265C>GCA340744271RPE65c.1050G>C (p.Trp350Cys)
c.774G>C (p.Trp258Cys)
1g.68438265C>TCA340744272RPE65c.1050G>A (p.Trp350Ter)
c.774G>A (p.Trp258Ter)
 dbSNP
1g.68438265_68438267dupCA2586966731RPE65c.1048_1050dup (p.Trp350_Glu351insTrp)
c.772_774dup (p.Trp258_Glu259insTrp)
1g.68438266C>ACA340744273RPE65c.1049G>T (p.Trp350Leu)
c.773G>T (p.Trp258Leu)
1g.68438266C>GCA340744274RPE65c.1049G>C (p.Trp350Ser)
c.773G>C (p.Trp258Ser)
1g.68438266C>TCA340744276RPE65c.1049G>A (p.Trp350Ter)
c.773G>A (p.Trp258Ter)
1g.68438267A>CCA340744278RPE65c.1048T>G (p.Trp350Gly)
c.772T>G (p.Trp258Gly)
1g.68438267A>GCA340744280RPE65c.1048T>C (p.Trp350Arg)
c.772T>C (p.Trp258Arg)
 gnomAD v4
1g.68438267A>TCA340744282RPE65c.1048T>A (p.Trp350Arg)
c.772T>A (p.Trp258Arg)
1g.68438268G>ACA418279197RPE65c.1047C>T (p.Asn349=)
c.771C>T (p.Asn257=)
1g.68438268G>CCA340744285RPE65c.1047C>G (p.Asn349Lys)
c.771C>G (p.Asn257Lys)
1g.68438268G=CA1173560861RPE65c.1047C= (p.Asn349=)
c.771C= (p.Asn257=)
1g.68438268G>TCA340744283RPE65c.1047C>A (p.Asn349Lys)
c.771C>A (p.Asn257Lys)
 gnomAD v4
1g.68438268_68438269insCCACA226473RPE65c.1046_1047insTGG (p.Asn349_Trp350insGly)
c.770_771insTGG (p.Asn257_Trp258insGly)
 ClinVar dbSNP
1g.68438269T>ACA340744287RPE65c.1046A>T (p.Asn349Ile)
c.770A>T (p.Asn257Ile)
1g.68438269T>CCA340744289RPE65c.1046A>G (p.Asn349Ser)
c.770A>G (p.Asn257Ser)
1g.68438269T>GCA340744291RPE65c.1046A>C (p.Asn349Thr)
c.770A>C (p.Asn257Thr)
1g.68438270T>ACA340744293RPE65c.1045A>T (p.Asn349Tyr)
c.769A>T (p.Asn257Tyr)
1g.68438270T>CCA340744295RPE65c.1045A>G (p.Asn349Asp)
c.769A>G (p.Asn257Asp)
 gnomAD v4
1g.68438270T>GCA340744297RPE65c.1045A>C (p.Asn349His)
c.769A>C (p.Asn257His)
1g.68438271C>ACA340744298RPE65c.1044G>T (p.Glu348Asp)
c.768G>T (p.Glu256Asp)
1g.68438271C>GCA340744299RPE65c.1044G>C (p.Glu348Asp)
c.768G>C (p.Glu256Asp)
1g.68438271C>TCA418279203RPE65c.1044G>A (p.Glu348=)
c.768G>A (p.Glu256=)
1g.68438272T>ACA340744301RPE65c.1043A>T (p.Glu348Val)
c.767A>T (p.Glu256Val)
1g.68438272T>CCA340744303RPE65c.1043A>G (p.Glu348Gly)
c.767A>G (p.Glu256Gly)
1g.68438272T>GCA340744305RPE65c.1043A>C (p.Glu348Ala)
c.767A>C (p.Glu256Ala)
1g.68438273C>ACA340744306RPE65c.1042G>T (p.Glu348Ter)
c.766G>T (p.Glu256Ter)
 gnomAD v4
1g.68438273C=CA1173560862RPE65c.1042G= (p.Glu348=)
c.766G= (p.Glu256=)
1g.68438273C>GCA340744310RPE65c.1042G>C (p.Glu348Gln)
c.766G>C (p.Glu256Gln)
1g.68438273C>TCA340744308RPE65c.1042G>A (p.Glu348Lys)
c.766G>A (p.Glu256Lys)
 dbSNP gnomAD v4
1g.68438274A>CCA418279206RPE65c.1041T>G (p.Arg347=)
c.765T>G (p.Arg255=)
 gnomAD v4
1g.68438274A>GCA418279208RPE65c.1041T>C (p.Arg347=)
c.765T>C (p.Arg255=)
1g.68438274A>TCA418279209RPE65c.1041T>A (p.Arg347=)
c.765T>A (p.Arg255=)
1g.68438275C>ACA340744312RPE65c.1040G>T (p.Arg347Leu)
c.764G>T (p.Arg255Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68438275C=CA1146885539RPE65c.1040G= (p.Arg347=)
c.764G= (p.Arg255=)
1g.68438275C>GCA340744313RPE65c.1040G>C (p.Arg347Pro)
c.764G>C (p.Arg255Pro)
1g.68438275C>TCA902309RPE65c.1040G>A (p.Arg347His)
c.764G>A (p.Arg255His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68438276G>ACA23569514RPE65c.1039C>T (p.Arg347Cys)
c.763C>T (p.Arg255Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68438276G>CCA340744318RPE65c.1039C>G (p.Arg347Gly)
c.763C>G (p.Arg255Gly)
1g.68438276G=CA1173560863RPE65c.1039C= (p.Arg347=)
c.763C= (p.Arg255=)
1g.68438276G>TCA340744317RPE65c.1039C>A (p.Arg347Ser)
c.763C>A (p.Arg255Ser)
1g.68438277T>ACA340744321RPE65c.1038A>T (p.Leu346Phe)
c.762A>T (p.Leu254Phe)
1g.68438277T>CCA418279213RPE65c.1038A>G (p.Leu346=)
c.762A>G (p.Leu254=)
1g.68438277T>GCA340744323RPE65c.1038A>C (p.Leu346Phe)
c.762A>C (p.Leu254Phe)
 ClinVar dbSNP
1g.68438278A>CCA340744325RPE65c.1037T>G (p.Leu346Ter)
c.761T>G (p.Leu254Ter)
1g.68438278A>GCA340744327RPE65c.1037T>C (p.Leu346Ser)
c.761T>C (p.Leu254Ser)
1g.68438278A>TCA340744328RPE65c.1037T>A (p.Leu346Ter)
c.761T>A (p.Leu254Ter)
1g.68438279A>CCA340744332RPE65c.1036T>G (p.Leu346Val)
c.760T>G (p.Leu254Val)
1g.68438279A>GCA418279214RPE65c.1036T>C (p.Leu346=)
c.760T>C (p.Leu254=)
1g.68438279A>TCA340744333RPE65c.1036T>A (p.Leu346Ile)
c.760T>A (p.Leu254Ile)
 gnomAD v4
1g.68438280A>CCA340744336RPE65c.1035T>G (p.Asn345Lys)
c.759T>G (p.Asn253Lys)
 gnomAD v4
1g.68438280A>GCA418279218RPE65c.1035T>C (p.Asn345=)
c.759T>C (p.Asn253=)
1g.68438280A>TCA340744338RPE65c.1035T>A (p.Asn345Lys)
c.759T>A (p.Asn253Lys)
1g.68438281T>ACA340744340RPE65c.1034A>T (p.Asn345Ile)
c.758A>T (p.Asn253Ile)
1g.68438281T>CCA902310RPE65c.1034A>G (p.Asn345Ser)
c.758A>G (p.Asn253Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438281T>GCA340744343RPE65c.1034A>C (p.Asn345Thr)
c.758A>C (p.Asn253Thr)
1g.68438281T=CA1173560864RPE65c.1034A= (p.Asn345=)
c.758A= (p.Asn253=)
1g.68438282T>ACA340744345RPE65c.1033A>T (p.Asn345Tyr)
c.757A>T (p.Asn253Tyr)
1g.68438282T>CCA340744347RPE65c.1033A>G (p.Asn345Asp)
c.757A>G (p.Asn253Asp)
1g.68438282T>GCA340744348RPE65c.1033A>C (p.Asn345His)
c.757A>C (p.Asn253His)
1g.68438283G>ACA418279221RPE65c.1032C>T (p.Ala344=)
c.756C>T (p.Ala252=)
 dbSNP gnomAD v2 gnomAD v4
1g.68438283G>CCA418279223RPE65c.1032C>G (p.Ala344=)
c.756C>G (p.Ala252=)
1g.68438283G=CA1173560865RPE65c.1032C= (p.Ala344=)
c.756C= (p.Ala252=)
1g.68438283G>TCA418279224RPE65c.1032C>A (p.Ala344=)
c.756C>A (p.Ala252=)
1g.68438284G>ACA23569522RPE65c.1031C>T (p.Ala344Val)
c.755C>T (p.Ala252Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68438284G>CCA340744352RPE65c.1031C>G (p.Ala344Gly)
c.755C>G (p.Ala252Gly)
1g.68438284G=CA1173560866RPE65c.1031C= (p.Ala344=)
c.755C= (p.Ala252=)
1g.68438284G>TCA902311RPE65c.1031C>A (p.Ala344Asp)
c.755C>A (p.Ala252Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438285C>ACA340744354RPE65c.1030G>T (p.Ala344Ser)
c.754G>T (p.Ala252Ser)
1g.68438285C=CA1173560867RPE65c.1030G= (p.Ala344=)
c.754G= (p.Ala252=)
1g.68438285C>GCA340744356RPE65c.1030G>C (p.Ala344Pro)
c.754G>C (p.Ala252Pro)
 dbSNP
1g.68438285C>TCA340744357RPE65c.1030G>A (p.Ala344Thr)
c.754G>A (p.Ala252Thr)
1g.68438286T>ACA340744359RPE65c.1029A>T (p.Leu343Phe)
c.753A>T (p.Leu251Phe)
1g.68438286T>CCA418279226RPE65c.1029A>G (p.Leu343=)
c.753A>G (p.Leu251=)
1g.68438286T>GCA340744360RPE65c.1029A>C (p.Leu343Phe)
c.753A>C (p.Leu251Phe)
1g.68438287A>CCA340744362RPE65c.1028T>G (p.Leu343Ter)
c.752T>G (p.Leu251Ter)
 ClinVar dbSNP
1g.68438287A>GCA340744364RPE65c.1028T>C (p.Leu343Ser)
c.752T>C (p.Leu251Ser)
1g.68438287A>TCA340744366RPE65c.1028T>A (p.Leu343Ter)
c.752T>A (p.Leu251Ter)
1g.68438288A>CCA340744368RPE65c.1027T>G (p.Leu343Val)
c.751T>G (p.Leu251Val)
1g.68438288A>GCA418279230RPE65c.1027T>C (p.Leu343=)
c.751T>C (p.Leu251=)
 gnomAD v4
1g.68438288A>TCA340744369RPE65c.1027T>A (p.Leu343Ile)
c.751T>A (p.Leu251Ile)
1g.68438289A>CCA340744372RPE65c.1026T>G (p.Tyr342Ter)
c.750T>G (p.Tyr250Ter)
1g.68438289A>GCA418279231RPE65c.1026T>C (p.Tyr342=)
c.750T>C (p.Tyr250=)
1g.68438289A>TCA340744370RPE65c.1026T>A (p.Tyr342Ter)
c.750T>A (p.Tyr250Ter)
1g.68438290T>ACA340744374RPE65c.1025A>T (p.Tyr342Phe)
c.749A>T (p.Tyr250Phe)
1g.68438290T>CCA340744376RPE65c.1025A>G (p.Tyr342Cys)
c.749A>G (p.Tyr250Cys)
 gnomAD v4
1g.68438290T>GCA340744377RPE65c.1025A>C (p.Tyr342Ser)
c.749A>C (p.Tyr250Ser)
1g.68438291A=CA1173560868RPE65c.1024T= (p.Tyr342=)
c.748T= (p.Tyr250=)
1g.68438291A>CCA340744380RPE65c.1024T>G (p.Tyr342Asp)
c.748T>G (p.Tyr250Asp)
 gnomAD v4
1g.68438291A>GCA340744382RPE65c.1024T>C (p.Tyr342His)
c.748T>C (p.Tyr250His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68438291A>TCA340744383RPE65c.1024T>A (p.Tyr342Asn)
c.748T>A (p.Tyr250Asn)
1g.68438292T>ACA340744385RPE65c.1023A>T (p.Leu341Phe)
c.747A>T (p.Leu249Phe)
 gnomAD v4
1g.68438292T>CCA418279233RPE65c.1023A>G (p.Leu341=)
c.747A>G (p.Leu249=)
 ClinVar
1g.68438292T>GCA340744387RPE65c.1023A>C (p.Leu341Phe)
c.747A>C (p.Leu249Phe)
1g.68438293A=CA1140725761RPE65c.1022T= (p.Leu341=)
c.746T= (p.Leu249=)
1g.68438293A>CCA340744389RPE65c.1022T>G (p.Leu341Ter)
c.746T>G (p.Leu249Ter)
1g.68438293A>GCA226472RPE65c.1022T>C (p.Leu341Ser)
c.746T>C (p.Leu249Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68438293A>TCA340744392RPE65c.1022T>A (p.Leu341Ter)
c.746T>A (p.Leu249Ter)
 COSMIC
1g.68438294A>CCA340744393RPE65c.1021T>G (p.Leu341Val)
c.745T>G (p.Leu249Val)
1g.68438294A>GCA418279234RPE65c.1021T>C (p.Leu341=)
c.745T>C (p.Leu249=)
1g.68438294A>TCA340744395RPE65c.1021T>A (p.Leu341Ile)
c.745T>A (p.Leu249Ile)
1g.68438295G>ACA418279236RPE65c.1020C>T (p.Tyr340=)
c.744C>T (p.Tyr248=)
 ClinVar dbSNP gnomAD v4
1g.68438295G>CCA340744399RPE65c.1020C>G (p.Tyr340Ter)
c.744C>G (p.Tyr248Ter)
1g.68438295G>TCA340744397RPE65c.1020C>A (p.Tyr340Ter)
c.744C>A (p.Tyr248Ter)
 COSMIC
1g.68438296T>ACA340744402RPE65c.1019A>T (p.Tyr340Phe)
c.743A>T (p.Tyr248Phe)
 gnomAD v4
1g.68438296T>CCA340744403RPE65c.1019A>G (p.Tyr340Cys)
c.743A>G (p.Tyr248Cys)
1g.68438296T>GCA340744405RPE65c.1019A>C (p.Tyr340Ser)
c.743A>C (p.Tyr248Ser)
1g.68438299_68438304delCA2744001092RPE65c.1014_1019del (p.Asn339_Tyr340del)
c.738_743del (p.Asn247_Tyr248del)
1g.68438297A>CCA340744406RPE65c.1018T>G (p.Tyr340Asp)
c.742T>G (p.Tyr248Asp)
1g.68438297A>GCA340744408RPE65c.1018T>C (p.Tyr340His)
c.742T>C (p.Tyr248His)
1g.68438297A>TCA340744410RPE65c.1018T>A (p.Tyr340Asn)
c.742T>A (p.Tyr248Asn)
1g.68438298A=CA1173560869RPE65c.1017T= (p.Asn339=)
c.741T= (p.Asn247=)
1g.68438298A>CCA340744412RPE65c.1017T>G (p.Asn339Lys)
c.741T>G (p.Asn247Lys)
1g.68438298A>GCA23569536RPE65c.1017T>C (p.Asn339=)
c.741T>C (p.Asn247=)
 ClinVar dbSNP gnomAD v4
1g.68438298A>TCA340744415RPE65c.1017T>A (p.Asn339Lys)
c.741T>A (p.Asn247Lys)
1g.68438299T>ACA340744417RPE65c.1016A>T (p.Asn339Ile)
c.740A>T (p.Asn247Ile)
1g.68438299T>CCA902312RPE65c.1016A>G (p.Asn339Ser)
c.740A>G (p.Asn247Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438299T>GCA902313RPE65c.1016A>C (p.Asn339Thr)
c.740A>C (p.Asn247Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438299T=CA1173560870RPE65c.1016A= (p.Asn339=)
c.740A= (p.Asn247=)
1g.68438300T>ACA340744425RPE65c.1015A>T (p.Asn339Tyr)
c.739A>T (p.Asn247Tyr)
1g.68438300T>CCA340744423RPE65c.1015A>G (p.Asn339Asp)
c.739A>G (p.Asn247Asp)
 gnomAD v4
1g.68438300T>GCA340744421RPE65c.1015A>C (p.Asn339His)
c.739A>C (p.Asn247His)
 gnomAD v4
1g.68438301A=CA1173560871RPE65c.1014T= (p.Tyr338=)
c.738T= (p.Tyr246=)
1g.68438301A>CCA340744427RPE65c.1014T>G (p.Tyr338Ter)
c.738T>G (p.Tyr246Ter)
1g.68438301A>GCA902314RPE65c.1014T>C (p.Tyr338=)
c.738T>C (p.Tyr246=)
 dbSNP ExAC gnomAD v2
1g.68438301A>TCA340744429RPE65c.1014T>A (p.Tyr338Ter)
c.738T>A (p.Tyr246Ter)
1g.68438302T>ACA340744432RPE65c.1013A>T (p.Tyr338Phe)
c.737A>T (p.Tyr246Phe)
1g.68438302T>CCA340744434RPE65c.1013A>G (p.Tyr338Cys)
c.737A>G (p.Tyr246Cys)
 ClinVar dbSNP gnomAD v4
1g.68438302T>GCA340744436RPE65c.1013A>C (p.Tyr338Ser)
c.737A>C (p.Tyr246Ser)
1g.68438302T=CA1173560872RPE65c.1013A= (p.Tyr338=)
c.737A= (p.Tyr246=)
1g.68438303A=CA1173560873RPE65c.1012T= (p.Tyr338=)
c.736T= (p.Tyr246=)
1g.68438303A>CCA340744438RPE65c.1012T>G (p.Tyr338Asp)
c.736T>G (p.Tyr246Asp)
 dbSNP
1g.68438303A>GCA340744439RPE65c.1012T>C (p.Tyr338His)
c.736T>C (p.Tyr246His)
1g.68438303A>TCA340744441RPE65c.1012T>A (p.Tyr338Asn)
c.736T>A (p.Tyr246Asn)
1g.68438304A>CCA418279239RPE65c.1011T>G (p.Val337=)
c.735T>G (p.Val245=)
1g.68438304A>GCA418279240RPE65c.1011T>C (p.Val337=)
c.735T>C (p.Val245=)
1g.68438304A>TCA418279241RPE65c.1011T>A (p.Val337=)
c.735T>A (p.Val245=)
1g.68438305A=CA1173560874RPE65c.1010T= (p.Val337=)
c.734T= (p.Val245=)
1g.68438305A>CCA340744442RPE65c.1010T>G (p.Val337Gly)
c.734T>G (p.Val245Gly)
 COSMIC
1g.68438305A>GCA340744444RPE65c.1010T>C (p.Val337Ala)
c.734T>C (p.Val245Ala)
 dbSNP gnomAD v4
1g.68438305A>TCA340744446RPE65c.1010T>A (p.Val337Asp)
c.734T>A (p.Val245Asp)
1g.68438306C>ACA340744448RPE65c.1009G>T (p.Val337Phe)
c.733G>T (p.Val245Phe)
1g.68438306C>GCA340744449RPE65c.1009G>C (p.Val337Leu)
c.733G>C (p.Val245Leu)
1g.68438306C>TCA340744452RPE65c.1009G>A (p.Val337Ile)
c.733G>A (p.Val245Ile)
1g.68438307A>CCA340744456RPE65c.1008T>G (p.Phe336Leu)
c.732T>G (p.Phe244Leu)
1g.68438307A>GCA418279242RPE65c.1008T>C (p.Phe336=)
c.732T>C (p.Phe244=)
1g.68438307A>TCA340744454RPE65c.1008T>A (p.Phe336Leu)
c.732T>A (p.Phe244Leu)
1g.68438308A>CCA340744458RPE65c.1007T>G (p.Phe336Cys)
c.731T>G (p.Phe244Cys)
1g.68438308A>GCA340744459RPE65c.1007T>C (p.Phe336Ser)
c.731T>C (p.Phe244Ser)
 ClinVar
1g.68438308A>TCA340744461RPE65c.1007T>A (p.Phe336Tyr)
c.731T>A (p.Phe244Tyr)
1g.68438309A>CCA340744463RPE65c.1006T>G (p.Phe336Val)
c.730T>G (p.Phe244Val)
1g.68438309A>GCA340744464RPE65c.1006T>C (p.Phe336Leu)
c.730T>C (p.Phe244Leu)
1g.68438309A>TCA340744465RPE65c.1006T>A (p.Phe336Ile)
c.730T>A (p.Phe244Ile)
1g.68438310C>ACA340744467RPE65c.1005G>T (p.Glu335Asp)
c.729G>T (p.Glu243Asp)
1g.68438310C>GCA340744469RPE65c.1005G>C (p.Glu335Asp)
c.729G>C (p.Glu243Asp)
1g.68438310C>TCA418279243RPE65c.1005G>A (p.Glu335=)
c.729G>A (p.Glu243=)
1g.68438311_68438312delCA2695198046RPE65c.1004_1005del (p.Glu335ValfsTer4)
c.728_729del (p.Glu243ValfsTer4)
 ClinVar
1g.68438311T>ACA340744471RPE65c.1004A>T (p.Glu335Val)
c.728A>T (p.Glu243Val)
 ClinVar dbSNP
1g.68438311T>CCA340744472RPE65c.1004A>G (p.Glu335Gly)
c.728A>G (p.Glu243Gly)
1g.68438311T>GCA340744474RPE65c.1004A>C (p.Glu335Ala)
c.728A>C (p.Glu243Ala)
1g.68438311T=CA1173560875RPE65c.1004A= (p.Glu335=)
c.728A= (p.Glu243=)
1g.68438312C>ACA340744479RPE65c.1003G>T (p.Glu335Ter)
c.727G>T (p.Glu243Ter)
1g.68438312C=CA1173560876RPE65c.1003G= (p.Glu335=)
c.727G= (p.Glu243=)
1g.68438312C>GCA902315RPE65c.1003G>C (p.Glu335Gln)
c.727G>C (p.Glu243Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68438312C>TCA340744477RPE65c.1003G>A (p.Glu335Lys)
c.727G>A (p.Glu243Lys)
1g.68438313A>CCA340744482RPE65c.1002T>G (p.Phe334Leu)
c.726T>G (p.Phe242Leu)
 gnomAD v4
1g.68438313A>GCA418279244RPE65c.1002T>C (p.Phe334=)
c.726T>C (p.Phe242=)
1g.68438313A>TCA340744483RPE65c.1002T>A (p.Phe334Leu)
c.726T>A (p.Phe242Leu)
1g.68438315delCA2740090764RPE65c.1002del (p.Phe334LeufsTer10)
c.726del (p.Phe242LeufsTer10)
 ClinVar
1g.68438314_68438315delCA2586966732RPE65c.1001_1002del (p.Phe334Ter)
c.725_726del (p.Phe242Ter)
1g.68438314A>CCA340744486RPE65c.1001T>G (p.Phe334Cys)
c.725T>G (p.Phe242Cys)
 gnomAD v4
1g.68438314A>GCA340744487RPE65c.1001T>C (p.Phe334Ser)
c.725T>C (p.Phe242Ser)
1g.68438314A>TCA340744488RPE65c.1001T>A (p.Phe334Tyr)
c.725T>A (p.Phe242Tyr)
1g.68438315A>CCA340744491RPE65c.1000T>G (p.Phe334Val)
c.724T>G (p.Phe242Val)
1g.68438315A>GCA340744492RPE65c.1000T>C (p.Phe334Leu)
c.724T>C (p.Phe242Leu)
1g.68438315A>TCA340744493RPE65c.1000T>A (p.Phe334Ile)
c.724T>A (p.Phe242Ile)
1g.68438316T>ACA418279245RPE65c.999A>T (p.Gly333=)
c.723A>T (p.Gly241=)
1g.68438316T>CCA418279246RPE65c.999A>G (p.Gly333=)
c.723A>G (p.Gly241=)
1g.68438316T>GCA418279247RPE65c.999A>C (p.Gly333=)
c.723A>C (p.Gly241=)
1g.68438317_68438318delCA2744001093RPE65c.999-1_999del
c.723-1_723del
1g.68438317C>ACA340744496RPE65c.999-1G>T (n.999-1G>T)
c.723-1G>T (n.723-1G>T)
 ClinVar
1g.68438317C>GCA340744497RPE65c.999-1G>C (n.999-1G>C)
c.723-1G>C (n.723-1G>C)
1g.68438317C>TCA340744499RPE65c.999-1G>A (n.999-1G>A)
c.723-1G>A (n.723-1G>A)
1g.68438318T>ACA340744501RPE65c.999-2A>T (n.999-2A>T)
c.723-2A>T (n.723-2A>T)
1g.68438318T>CCA340744503RPE65c.999-2A>G (n.999-2A>G)
c.723-2A>G (n.723-2A>G)
 ClinVar
1g.68438318T>GCA340744504RPE65c.999-2A>C (n.999-2A>C)
c.723-2A>C (n.723-2A>C)
1g.68438319G>ACA2646149421RPE65c.999-3C>T (n.999-3C>T)
c.723-3C>T (n.723-3C>T)
 gnomAD v4
1g.68438319G>CCA2573132576RPE65c.999-3C>G (n.999-3C>G)
c.723-3C>G (n.723-3C>G)
 ClinVar dbSNP
1g.68438320C=CA1173560877RPE65c.999-4G= (n.999-4G=)
c.723-4G= (n.723-4G=)
1g.68438320C>TCA902316RPE65c.999-4G>A (n.999-4G>A)
c.723-4G>A (n.723-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438322A=CA1173560878RPE65c.999-6T= (n.999-6T=)
c.723-6T= (n.723-6T=)
1g.68438322A>GCA23569578RPE65c.999-6T>C (n.999-6T>C)
c.723-6T>C (n.723-6T>C)
 dbSNP
1g.68438323A>GCA2580063210RPE65c.999-7T>C (n.999-7T>C)
c.723-7T>C (n.723-7T>C)
 ClinVar
1g.68438325A=CA1173560879RPE65c.999-9T= (n.999-9T=)
c.723-9T= (n.723-9T=)
1g.68438325A>TCA23569581RPE65c.999-9T>A (n.999-9T>A)
c.723-9T>A (n.723-9T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.68438326_68438327delCA2499214840RPE65c.999-10_999-9del (n.999-10_999-9del)
c.723-10_723-9del (n.723-10_723-9del)
 ClinVar dbSNP
1g.68438326_68438327delinsTACA1173560880RPE65c.999-11_999-10delinsTA (n.999-11_999-10delinsTA)
c.723-11_723-10delinsTA (n.723-11_723-10delinsTA)
1g.68438331delCA738213898RPE65c.999-11del (n.999-11del)
c.723-11del (n.723-11del)
 dbSNP gnomAD v3 gnomAD v4
1g.68438328A=CA1173560881RPE65c.999-12T= (n.999-12T=)
c.723-12T= (n.723-12T=)
1g.68438328A>CCA902317RPE65c.999-12T>G (n.999-12T>G)
c.723-12T>G (n.723-12T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68438328A>GCA2646149424RPE65c.999-12T>C (n.999-12T>C)
c.723-12T>C (n.723-12T>C)
 ClinVar gnomAD v4

Number of alleles fetched