Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68444705delCA2646150352RPE65c.354-32del (n.354-32del)
c.78-32del (n.78-32del)
 gnomAD v4
1g.68444706T>ACA2519961037RPE65c.354-34A>T (n.354-34A>T)
c.78-34A>T (n.78-34A>T)
1g.68444706T>CCA2574402992RPE65c.354-34A>G (n.354-34A>G)
c.78-34A>G (n.78-34A>G)
1g.68444709_68444710delCA2744001087RPE65c.354-38_354-37del (n.354-38_354-37del)
c.78-38_78-37del (n.78-38_78-37del)
1g.68444710C>ACA902525RPE65c.354-38G>T (n.354-38G>T)
c.78-38G>T (n.78-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444710C=CA1173563444RPE65c.354-38G= (n.354-38G=)
c.78-38G= (n.78-38G=)
1g.68444711_68444712insGTCA2744001088RPE65c.354-40_354-39insAC (n.354-40_354-39insAC)
c.78-40_78-39insAC (n.78-40_78-39insAC)
1g.68444712A=CA1173563445RPE65c.354-40T= (n.354-40T=)
c.78-40T= (n.78-40T=)
1g.68444712A>GCA902526RPE65c.354-40T>C (n.354-40T>C)
c.78-40T>C (n.78-40T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444712A>TCA2695825742RPE65c.354-40T>A (n.354-40T>A)
c.78-40T>A (n.78-40T>A)
 dbSNP
1g.68444713G>TCA2574402993RPE65c.354-41C>A (n.354-41C>A)
c.78-41C>A (n.78-41C>A)
1g.68444714_68444715insAGACA2744001089RPE65c.354-43_354-42insTCT (n.354-43_354-42insTCT)
c.78-43_78-42insTCT (n.78-43_78-42insTCT)
1g.68444715C=CA1147078148RPE65c.354-43G= (n.354-43G=)
c.78-43G= (n.78-43G=)
1g.68444715C>TCA902527RPE65c.354-43G>A (n.354-43G>A)
c.78-43G>A (n.78-43G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444717T>GCA2599702966RPE65c.354-45A>C (n.354-45A>C)
c.78-45A>C (n.78-45A>C)
 dbSNP gnomAD v3 gnomAD v4
1g.68444718G>ACA2599702968RPE65c.354-46C>T (n.354-46C>T)
c.78-46C>T (n.78-46C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.68444718G>TCA2646150354RPE65c.354-46C>A (n.354-46C>A)
c.78-46C>A (n.78-46C>A)
 gnomAD v4
1g.68444718_68444720delCA2744001090RPE65c.354-48_354-46del (n.354-48_354-46del)
c.78-48_78-46del (n.78-48_78-46del)
1g.68444719_68444720delinsAGCA1173563446RPE65c.354-48_354-47delinsCT (n.354-48_354-47delinsCT)
c.78-48_78-47delinsCT (n.78-48_78-47delinsCT)
1g.68444720delCA902528RPE65c.354-48del (n.354-48del)
c.78-48del (n.78-48del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444720G>ACA1173563448RPE65c.354-48C>T (n.354-48C>T)
c.78-48C>T (n.78-48C>T)
 dbSNP
1g.68444720G=CA1173563447RPE65c.354-48C= (n.354-48C=)
c.78-48C= (n.78-48C=)
1g.68444722delCA2646150357RPE65c.354-50del (n.354-50del)
c.78-50del (n.78-50del)
 gnomAD v4
1g.68444722G>CCA902529RPE65c.354-50C>G (n.354-50C>G)
c.78-50C>G (n.78-50C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444722G=CA1173563449RPE65c.354-50C= (n.354-50C=)
c.78-50C= (n.78-50C=)
1g.68444722G>TCA2646150356RPE65c.354-50C>A (n.354-50C>A)
c.78-50C>A (n.78-50C>A)
 gnomAD v4
1g.68444725A=CA1141337296RPE65c.353+51T= (n.353+51T=)
c.77+51T= (n.77+51T=)
1g.68444725A>GCA902530RPE65c.353+51T>C (n.353+51T>C)
c.77+51T>C (n.77+51T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444727A=CA1173563450RPE65c.353+49T= (n.353+49T=)
c.77+49T= (n.77+49T=)
1g.68444727A>GCA902531RPE65c.353+49T>C (n.353+49T>C)
c.77+49T>C (n.77+49T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444728G>ACA902532RPE65c.353+48C>T (n.353+48C>T)
c.77+48C>T (n.77+48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444728G>CCA2553994718RPE65c.353+48C>G (n.353+48C>G)
c.77+48C>G (n.77+48C>G)
 gnomAD v4
1g.68444728G=CA1173563451RPE65c.353+48C= (n.353+48C=)
c.77+48C= (n.77+48C=)
1g.68444728G>TCA2574402994RPE65c.353+48C>A (n.353+48C>A)
c.77+48C>A (n.77+48C>A)
1g.68444729G>ACA902533RPE65c.353+47C>T (n.353+47C>T)
c.77+47C>T (n.77+47C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444729G=CA1173563452RPE65c.353+47C= (n.353+47C=)
c.77+47C= (n.77+47C=)
1g.68444731C>ACA1173563454RPE65c.353+45G>T (n.353+45G>T)
c.77+45G>T (n.77+45G>T)
 dbSNP gnomAD v4
1g.68444731C=CA1173563453RPE65c.353+45G= (n.353+45G=)
c.77+45G= (n.77+45G=)
1g.68444731C>TCA2646150363RPE65c.353+45G>A (n.353+45G>A)
c.77+45G>A (n.77+45G>A)
 gnomAD v4
1g.68444733A>CCA2646150364RPE65c.353+43T>G (n.353+43T>G)
c.77+43T>G (n.77+43T>G)
 gnomAD v4
1g.68444735T>ACA523301930RPE65c.353+41A>T (n.353+41A>T)
c.77+41A>T (n.77+41A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.68444735T>CCA902534RPE65c.353+41A>G (n.353+41A>G)
c.77+41A>G (n.77+41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444735T=CA1149042869RPE65c.353+41A= (n.353+41A=)
c.77+41A= (n.77+41A=)
1g.68444736A>GCA2525669217RPE65c.353+40T>C (n.353+40T>C)
c.77+40T>C (n.77+40T>C)
1g.68444736A>TCA2744001091RPE65c.353+40T>A (n.353+40T>A)
c.77+40T>A (n.77+40T>A)
1g.68444737T>ACA523301933RPE65c.353+39A>T (n.353+39A>T)
c.77+39A>T (n.77+39A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444737T>CCA2646150366RPE65c.353+39A>G (n.353+39A>G)
c.77+39A>G (n.77+39A>G)
 dbSNP gnomAD v4
1g.68444737T=CA1173563455RPE65c.353+39A= (n.353+39A=)
c.77+39A= (n.77+39A=)
1g.68444738A=CA1173563456RPE65c.353+38T= (n.353+38T=)
c.77+38T= (n.77+38T=)
1g.68444738A>GCA1173563457RPE65c.353+38T>C (n.353+38T>C)
c.77+38T>C (n.77+38T>C)
 dbSNP gnomAD v4
1g.68444739_68444740insTCA2646150368RPE65c.353+36_353+37insA (n.353+36_353+37insA)
c.77+36_77+37insA (n.77+36_77+37insA)
 gnomAD v4
1g.68444741A=CA1143886788RPE65c.353+35T= (n.353+35T=)
c.77+35T= (n.77+35T=)
1g.68444741A>GCA902535RPE65c.353+35T>C (n.353+35T>C)
c.77+35T>C (n.77+35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444743G>ACA902536RPE65c.353+33C>T (n.353+33C>T)
c.77+33C>T (n.77+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444743G=CA1173563458RPE65c.353+33C= (n.353+33C=)
c.77+33C= (n.77+33C=)
1g.68444744T>CCA2646150373RPE65c.353+32A>G (n.353+32A>G)
c.77+32A>G (n.77+32A>G)
 gnomAD v4
1g.68444745C=CA1173563459RPE65c.353+31G= (n.353+31G=)
c.77+31G= (n.77+31G=)
1g.68444745C>GCA1173563460RPE65c.353+31G>C (n.353+31G>C)
c.77+31G>C (n.77+31G>C)
 dbSNP
1g.68444746T>GCA902537RPE65c.353+30A>C (n.353+30A>C)
c.77+30A>C (n.77+30A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68444746T=CA1145671052RPE65c.353+30A= (n.353+30A=)
c.77+30A= (n.77+30A=)
1g.68444748G>CCA902538RPE65c.353+28C>G (n.353+28C>G)
c.77+28C>G (n.77+28C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444748G=CA1173563461RPE65c.353+28C= (n.353+28C=)
c.77+28C= (n.77+28C=)
1g.68444748G>TCA2525120166RPE65c.353+28C>A (n.353+28C>A)
c.77+28C>A (n.77+28C>A)
1g.68444750G>ACA523301937RPE65c.353+26C>T (n.353+26C>T)
c.77+26C>T (n.77+26C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444750G=CA1173563462RPE65c.353+26C= (n.353+26C=)
c.77+26C= (n.77+26C=)
1g.68444751_68444754dupCA2646150376RPE65c.353+22_353+25dup (n.353+22_353+25dup)
c.77+22_77+25dup (n.77+22_77+25dup)
 gnomAD v4
1g.68444755A>GCA2547903023RPE65c.353+21T>C (n.353+21T>C)
c.77+21T>C (n.77+21T>C)
 gnomAD v4
1g.68444756T>ACA1173563464RPE65c.353+20A>T (n.353+20A>T)
c.77+20A>T (n.77+20A>T)
 ClinVar dbSNP
1g.68444756T=CA1173563463RPE65c.353+20A= (n.353+20A=)
c.77+20A= (n.77+20A=)
1g.68444757T>GCA2531867706RPE65c.353+19A>C (n.353+19A>C)
c.77+19A>C (n.77+19A>C)
1g.68444759A>TCA2646150377RPE65c.353+17T>A (n.353+17T>A)
c.77+17T>A (n.77+17T>A)
 gnomAD v4
1g.68444761T>CCA2646150378RPE65c.353+15A>G (n.353+15A>G)
c.77+15A>G (n.77+15A>G)
 ClinVar gnomAD v4
1g.68444762T>GCA2740090759RPE65c.353+14A>C (n.353+14A>C)
c.77+14A>C (n.77+14A>C)
 ClinVar
1g.68444763T>CCA2574402995RPE65c.353+13A>G (n.353+13A>G)
c.77+13A>G (n.77+13A>G)
 gnomAD v4
1g.68444763T>GCA2574402996RPE65c.353+13A>C (n.353+13A>C)
c.77+13A>C (n.77+13A>C)
1g.68444763_68444764delCA2542605472RPE65c.353+12_353+13del (n.353+12_353+13del)
c.77+12_77+13del (n.77+12_77+13del)
1g.68444764G>ACA2646150379RPE65c.353+12C>T (n.353+12C>T)
c.77+12C>T (n.77+12C>T)
 gnomAD v4
1g.68444764G>TCA2574402997RPE65c.353+12C>A (n.353+12C>A)
c.77+12C>A (n.77+12C>A)
1g.68444765G>CCA2646150380RPE65c.353+11C>G (n.353+11C>G)
c.77+11C>G (n.77+11C>G)
 ClinVar gnomAD v4
1g.68444766G>ACA2573131985RPE65c.353+10C>T (n.353+10C>T)
c.77+10C>T (n.77+10C>T)
 ClinVar dbSNP
1g.68444766G>TCA2574402998RPE65c.353+10C>A (n.353+10C>A)
c.77+10C>A (n.77+10C>A)
1g.68444766_68444767insATCA2561780455RPE65c.353+9_353+10insAT (n.353+9_353+10insAT)
c.77+9_77+10insAT (n.77+9_77+10insAT)
1g.68444768T>CCA1173563466RPE65c.353+8A>G (n.353+8A>G)
c.77+8A>G (n.77+8A>G)
 ClinVar dbSNP
1g.68444768T>GCA2646150381RPE65c.353+8A>C (n.353+8A>C)
c.77+8A>C (n.77+8A>C)
 ClinVar gnomAD v4
1g.68444768T=CA1173563465RPE65c.353+8A= (n.353+8A=)
c.77+8A= (n.77+8A=)
1g.68444769C>ACA2646150383RPE65c.353+7G>T (n.353+7G>T)
c.77+7G>T (n.77+7G>T)
 gnomAD v4
1g.68444769C=CA1173563467RPE65c.353+7G= (n.353+7G=)
c.77+7G= (n.77+7G=)
1g.68444769C>TCA902539RPE65c.353+7G>A (n.353+7G>A)
c.77+7G>A (n.77+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444770A=CA1148471687RPE65c.353+6T= (n.353+6T=)
c.77+6T= (n.77+6T=)
1g.68444770A>GCA902540RPE65c.353+6T>C (n.353+6T>C)
c.77+6T>C (n.77+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444771G>ACA2646150390RPE65c.353+5C>T (n.353+5C>T)
c.77+5C>T (n.77+5C>T)
 gnomAD v4
1g.68444771G=CA1173563468RPE65c.353+5C= (n.353+5C=)
c.77+5C= (n.77+5C=)
1g.68444771G>TCA902541RPE65c.353+5C>A (n.353+5C>A)
c.77+5C>A (n.77+5C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444772T>ACA1173563470RPE65c.353+4A>T (n.353+4A>T)
c.77+4A>T (n.77+4A>T)
 ClinVar dbSNP gnomAD v4
1g.68444772T>CCA523301939RPE65c.353+4A>G (n.353+4A>G)
c.77+4A>G (n.77+4A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.68444772T=CA1173563469RPE65c.353+4A= (n.353+4A=)
c.77+4A= (n.77+4A=)
1g.68444773A>GCA2586966746RPE65c.353+3T>C (n.353+3T>C)
c.77+3T>C (n.77+3T>C)
1g.68444774A=CA1173563471RPE65c.353+2T= (n.353+2T=)
c.77+2T= (n.77+2T=)
1g.68444774A>CCA340748066RPE65c.353+2T>G (n.353+2T>G)
c.77+2T>G (n.77+2T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.68444774A>GCA340748068RPE65c.353+2T>C (n.353+2T>C)
c.77+2T>C (n.77+2T>C)
1g.68444774A>TCA340748070RPE65c.353+2T>A (n.353+2T>A)
c.77+2T>A (n.77+2T>A)
1g.68444775C>ACA226544RPE65c.353+1G>T (n.353+1G>T)
c.77+1G>T (n.77+1G>T)
 ClinVar dbSNP
1g.68444775C=CA1140725793RPE65c.353+1G= (n.353+1G=)
c.77+1G= (n.77+1G=)
1g.68444775C>GCA340748073RPE65c.353+1G>C (n.353+1G>C)
c.77+1G>C (n.77+1G>C)
1g.68444775C>TCA340748075RPE65c.353+1G>A (n.353+1G>A)
c.77+1G>A (n.77+1G>A)
 ClinVar
1g.68444776C>ACA340748081RPE65c.353G>T (p.Arg118Met)
c.77G>T (p.Arg26Met)
1g.68444776C=CA1173563472RPE65c.353G= (p.Arg118=)
c.77G= (p.Arg26=)
1g.68444776C>GCA340748077RPE65c.353G>C (p.Arg118Thr)
c.77G>C (p.Arg26Thr)
1g.68444776C>TCA340748079RPE65c.353G>A (p.Arg118Lys)
c.77G>A (p.Arg26Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.68444777T>ACA340748082RPE65c.352A>T (p.Arg118Trp)
c.76A>T (p.Arg26Trp)
1g.68444777T>CCA340748084RPE65c.352A>G (p.Arg118Gly)
c.76A>G (p.Arg26Gly)
1g.68444777T>GCA418282894RPE65c.352A>C (p.Arg118=)
c.76A>C (p.Arg26=)
1g.68444778G>ACA418282896RPE65c.351C>T (p.Ser117=)
c.75C>T (p.Ser25=)
1g.68444778G>CCA418282898RPE65c.351C>G (p.Ser117=)
c.75C>G (p.Ser25=)
1g.68444778G>TCA418282899RPE65c.351C>A (p.Ser117=)
c.75C>A (p.Ser25=)
1g.68444779G>ACA340748086RPE65c.350C>T (p.Ser117Phe)
c.74C>T (p.Ser25Phe)
 ClinVar dbSNP
1g.68444779G>CCA340748088RPE65c.350C>G (p.Ser117Cys)
c.74C>G (p.Ser25Cys)
1g.68444779G>TCA340748090RPE65c.350C>A (p.Ser117Tyr)
c.74C>A (p.Ser25Tyr)
1g.68444780A>CCA340748092RPE65c.349T>G (p.Ser117Ala)
c.73T>G (p.Ser25Ala)
1g.68444780A>GCA340748093RPE65c.349T>C (p.Ser117Pro)
c.73T>C (p.Ser25Pro)
 gnomAD v4
1g.68444780A>TCA340748096RPE65c.349T>A (p.Ser117Thr)
c.73T>A (p.Ser25Thr)
1g.68444783delCA2543706020RPE65c.349del (p.Ser117ProfsTer10)
c.73del (p.Ser25ProfsTer10)
1g.68444781A=CA1173563473RPE65c.348T= (p.Phe116=)
c.72T= (p.Phe24=)
1g.68444781A>CCA340748098RPE65c.348T>G (p.Phe116Leu)
c.72T>G (p.Phe24Leu)
1g.68444781A>GCA23575223RPE65c.348T>C (p.Phe116=)
c.72T>C (p.Phe24=)
 dbSNP gnomAD v4
1g.68444781A>TCA340748100RPE65c.348T>A (p.Phe116Leu)
c.72T>A (p.Phe24Leu)
1g.68444782A>CCA340748104RPE65c.347T>G (p.Phe116Cys)
c.71T>G (p.Phe24Cys)
1g.68444782A>GCA340748106RPE65c.347T>C (p.Phe116Ser)
c.71T>C (p.Phe24Ser)
1g.68444782A>TCA340748103RPE65c.347T>A (p.Phe116Tyr)
c.71T>A (p.Phe24Tyr)
1g.68444783A=CA1173563474RPE65c.346T= (p.Phe116=)
c.70T= (p.Phe24=)
1g.68444783A>CCA340748108RPE65c.346T>G (p.Phe116Val)
c.70T>G (p.Phe24Val)
1g.68444783A>GCA340748110RPE65c.346T>C (p.Phe116Leu)
c.70T>C (p.Phe24Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.68444783A>TCA340748112RPE65c.346T>A (p.Phe116Ile)
c.70T>A (p.Phe24Ile)
1g.68444784T>ACA418282914RPE65c.345A>T (p.Ile115=)
c.69A>T (p.Ile23=)
 dbSNP
1g.68444784T>CCA340748114RPE65c.345A>G (p.Ile115Met)
c.69A>G (p.Ile23Met)
 dbSNP gnomAD v3 gnomAD v4
1g.68444784T>GCA418282916RPE65c.345A>C (p.Ile115=)
c.69A>C (p.Ile23=)
1g.68444784T=CA1173563475RPE65c.345A= (p.Ile115=)
c.69A= (p.Ile23=)
1g.68444785A=CA1173563476RPE65c.344T= (p.Ile115=)
c.68T= (p.Ile23=)
1g.68444785A>CCA340748117RPE65c.344T>G (p.Ile115Arg)
c.68T>G (p.Ile23Arg)
1g.68444785A>GCA340748119RPE65c.344T>C (p.Ile115Thr)
c.68T>C (p.Ile23Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444785A>TCA340748120RPE65c.344T>A (p.Ile115Lys)
c.68T>A (p.Ile23Lys)
1g.68444786T>ACA340748122RPE65c.343A>T (p.Ile115Leu)
c.67A>T (p.Ile23Leu)
1g.68444786T>CCA23575232RPE65c.343A>G (p.Ile115Val)
c.67A>G (p.Ile23Val)
 dbSNP gnomAD v3 gnomAD v4
1g.68444786T>GCA340748125RPE65c.343A>C (p.Ile115Leu)
c.67A>C (p.Ile23Leu)
1g.68444786T=CA1173563477RPE65c.343A= (p.Ile115=)
c.67A= (p.Ile23=)
1g.68444787A>CCA340748128RPE65c.342T>G (p.Asn114Lys)
c.66T>G (p.Asn22Lys)
1g.68444787A>GCA418282925RPE65c.342T>C (p.Asn114=)
c.66T>C (p.Asn22=)
1g.68444787A>TCA340748130RPE65c.342T>A (p.Asn114Lys)
c.66T>A (p.Asn22Lys)
1g.68444788T>ACA340748134RPE65c.341A>T (p.Asn114Ile)
c.65A>T (p.Asn22Ile)
1g.68444788T>CCA340748135RPE65c.341A>G (p.Asn114Ser)
c.65A>G (p.Asn22Ser)
1g.68444788T>GCA340748132RPE65c.341A>C (p.Asn114Thr)
c.65A>C (p.Asn22Thr)
1g.68444789T>ACA340748137RPE65c.340A>T (p.Asn114Tyr)
c.64A>T (p.Asn22Tyr)
1g.68444789T>CCA340748138RPE65c.340A>G (p.Asn114Asp)
c.64A>G (p.Asn22Asp)
1g.68444789T>GCA340748140RPE65c.340A>C (p.Asn114His)
c.64A>C (p.Asn22His)
1g.68444790C>ACA340748143RPE65c.339G>T (p.Lys113Asn)
c.63G>T (p.Lys21Asn)
1g.68444790C>GCA340748145RPE65c.339G>C (p.Lys113Asn)
c.63G>C (p.Lys21Asn)
 COSMIC
1g.68444790C>TCA418282935RPE65c.339G>A (p.Lys113=)
c.63G>A (p.Lys21=)
1g.68444791T>ACA340748151RPE65c.338A>T (p.Lys113Met)
c.62A>T (p.Lys21Met)
1g.68444791T>CCA340748146RPE65c.338A>G (p.Lys113Arg)
c.62A>G (p.Lys21Arg)
1g.68444791T>GCA340748148RPE65c.338A>C (p.Lys113Thr)
c.62A>C (p.Lys21Thr)
1g.68444792T>ACA340748153RPE65c.337A>T (p.Lys113Ter)
c.61A>T (p.Lys21Ter)
1g.68444792T>CCA340748155RPE65c.337A>G (p.Lys113Glu)
c.61A>G (p.Lys21Glu)
1g.68444792T>GCA902542RPE65c.337A>C (p.Lys113Gln)
c.61A>C (p.Lys21Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444792T=CA1173563478RPE65c.337A= (p.Lys113=)
c.61A= (p.Lys21=)
1g.68444793G>ACA418282941RPE65c.336C>T (p.Cys112=)
c.60C>T (p.Cys20=)
 gnomAD v4
1g.68444793G>CCA340748158RPE65c.336C>G (p.Cys112Trp)
c.60C>G (p.Cys20Trp)
1g.68444793G=CA1173563479RPE65c.336C= (p.Cys112=)
c.60C= (p.Cys20=)
1g.68444793G>TCA340748160RPE65c.336C>A (p.Cys112Ter)
c.60C>A (p.Cys20Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68444794C>ACA340748166RPE65c.335G>T (p.Cys112Phe)
c.59G>T (p.Cys20Phe)
1g.68444794C=CA1173563480RPE65c.335G= (p.Cys112=)
c.59G= (p.Cys20=)
1g.68444794C>GCA340748164RPE65c.335G>C (p.Cys112Ser)
c.59G>C (p.Cys20Ser)
1g.68444794C>TCA902543RPE65c.335G>A (p.Cys112Tyr)
c.59G>A (p.Cys20Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68444795A>CCA340748169RPE65c.334T>G (p.Cys112Gly)
c.58T>G (p.Cys20Gly)
1g.68444795A>GCA340748173RPE65c.334T>C (p.Cys112Arg)
c.58T>C (p.Cys20Arg)
1g.68444795A>TCA340748171RPE65c.334T>A (p.Cys112Ser)
c.58T>A (p.Cys20Ser)
1g.68444796G>ACA23575282RPE65c.333C>T (p.Pro111=)
c.57C>T (p.Pro19=)
 dbSNP
1g.68444796G>CCA418282950RPE65c.333C>G (p.Pro111=)
c.57C>G (p.Pro19=)
1g.68444796G=CA1140731258RPE65c.333C= (p.Pro111=)
c.57C= (p.Pro19=)
1g.68444796G>TCA418282949RPE65c.333C>A (p.Pro111=)
c.57C>A (p.Pro19=)
 gnomAD v4
1g.68444797G>ACA340748176RPE65c.332C>T (p.Pro111Leu)
c.56C>T (p.Pro19Leu)
1g.68444797G>CCA340748178RPE65c.332C>G (p.Pro111Arg)
c.56C>G (p.Pro19Arg)
1g.68444797G>TCA340748180RPE65c.332C>A (p.Pro111His)
c.56C>A (p.Pro19His)
 ClinVar dbSNP
1g.68444798G>ACA10603953RPE65c.331C>T (p.Pro111Ser)
c.55C>T (p.Pro19Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.68444798G>CCA340748183RPE65c.331C>G (p.Pro111Ala)
c.55C>G (p.Pro19Ala)
1g.68444798G=CA1173563481RPE65c.331C= (p.Pro111=)
c.55C= (p.Pro19=)
1g.68444798G>TCA340748185RPE65c.331C>A (p.Pro111Thr)
c.55C>A (p.Pro19Thr)
 ClinVar dbSNP
1g.68444799A>CCA340748187RPE65c.330T>G (p.Asp110Glu)
c.54T>G (p.Asp18Glu)
1g.68444799A>GCA418282956RPE65c.330T>C (p.Asp110=)
c.54T>C (p.Asp18=)
1g.68444799A>TCA340748189RPE65c.330T>A (p.Asp110Glu)
c.54T>A (p.Asp18Glu)
1g.68444800T>ACA340748191RPE65c.329A>T (p.Asp110Val)
c.53A>T (p.Asp18Val)
1g.68444800T>CCA340748193RPE65c.329A>G (p.Asp110Gly)
c.53A>G (p.Asp18Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.68444800T>GCA340748195RPE65c.329A>C (p.Asp110Ala)
c.53A>C (p.Asp18Ala)
1g.68444800T=CA1173563482RPE65c.329A= (p.Asp110=)
c.53A= (p.Asp18=)
1g.68444801C>ACA340748201RPE65c.328G>T (p.Asp110Tyr)
c.52G>T (p.Asp18Tyr)
1g.68444801C>GCA340748197RPE65c.328G>C (p.Asp110His)
c.52G>C (p.Asp18His)
1g.68444801C>TCA340748199RPE65c.328G>A (p.Asp110Asn)
c.52G>A (p.Asp18Asn)
1g.68444802T>ACA418282964RPE65c.327A>T (p.Pro109=)
c.51A>T (p.Pro17=)
1g.68444802T>CCA418282966RPE65c.327A>G (p.Pro109=)
c.51A>G (p.Pro17=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68444802T>GCA418282968RPE65c.327A>C (p.Pro109=)
c.51A>C (p.Pro17=)
1g.68444802T=CA1173563483RPE65c.327A= (p.Pro109=)
c.51A= (p.Pro17=)
1g.68444803G>ACA340748202RPE65c.326C>T (p.Pro109Leu)
c.50C>T (p.Pro17Leu)
 gnomAD v4
1g.68444803G>CCA340748203RPE65c.326C>G (p.Pro109Arg)
c.50C>G (p.Pro17Arg)
1g.68444803G>TCA340748204RPE65c.326C>A (p.Pro109Gln)
c.50C>A (p.Pro17Gln)
 COSMIC
1g.68444804G>ACA340748205RPE65c.325C>T (p.Pro109Ser)
c.49C>T (p.Pro17Ser)
 ClinVar
1g.68444804G>CCA340748206RPE65c.325C>G (p.Pro109Ala)
c.49C>G (p.Pro17Ala)
1g.68444804G>TCA340748207RPE65c.325C>A (p.Pro109Thr)
c.49C>A (p.Pro17Thr)
1g.68444805G>ACA418282973RPE65c.324C>T (p.Phe108=)
c.48C>T (p.Phe16=)
 COSMIC
1g.68444805G>CCA340748209RPE65c.324C>G (p.Phe108Leu)
c.48C>G (p.Phe16Leu)
1g.68444805G>TCA340748210RPE65c.324C>A (p.Phe108Leu)
c.48C>A (p.Phe16Leu)

Number of alleles fetched