Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68429787_68429788delinsTGCA1173557419RPE65c.1590_1591delinsCA (p.Phe530=)
c.1314_1315delinsCA (p.Phe438=)
1g.68429788delCA226522RPE65c.1590del (p.Phe530LeufsTer?)
c.1314del (p.Phe438LeufsTer?)
 ClinVar dbSNP
1g.68429788G>ACA418275553RPE65c.1590C>T (p.Phe530=)
c.1314C>T (p.Phe438=)
1g.68429788G>CCA340740548RPE65c.1590C>G (p.Phe530Leu)
c.1314C>G (p.Phe438Leu)
1g.68429788G=CA1143538033RPE65c.1590C= (p.Phe530=)
c.1314C= (p.Phe438=)
1g.68429788G>TCA340740550RPE65c.1590C>A (p.Phe530Leu)
c.1314C>A (p.Phe438Leu)
 ClinVar dbSNP gnomAD v4
1g.68429789A>CCA340740552RPE65c.1589T>G (p.Phe530Cys)
c.1313T>G (p.Phe438Cys)
1g.68429789A>GCA340740553RPE65c.1589T>C (p.Phe530Ser)
c.1313T>C (p.Phe438Ser)
 gnomAD v4
1g.68429789A>TCA340740554RPE65c.1589T>A (p.Phe530Tyr)
c.1313T>A (p.Phe438Tyr)
1g.68429790A>CCA340740555RPE65c.1588T>G (p.Phe530Val)
c.1312T>G (p.Phe438Val)
1g.68429790A>GCA340740556RPE65c.1588T>C (p.Phe530Leu)
c.1312T>C (p.Phe438Leu)
1g.68429790A>TCA340740557RPE65c.1588T>A (p.Phe530Ile)
c.1312T>A (p.Phe438Ile)
1g.68429790_68429798delCA2646149682RPE65c.1580_1588del (p.His527_Phe530delinsLeu)
c.1304_1312del (p.His435_Phe438delinsLeu)
 gnomAD v4
1g.68429791C>ACA418275561RPE65c.1587G>T (p.Leu529=)
c.1311G>T (p.Leu437=)
 gnomAD v4
1g.68429791C>GCA418275562RPE65c.1587G>C (p.Leu529=)
c.1311G>C (p.Leu437=)
 ClinVar
1g.68429791C>TCA418275564RPE65c.1587G>A (p.Leu529=)
c.1311G>A (p.Leu437=)
1g.68429792A>CCA340740560RPE65c.1586T>G (p.Leu529Arg)
c.1310T>G (p.Leu437Arg)
1g.68429792A>GCA340740562RPE65c.1586T>C (p.Leu529Pro)
c.1310T>C (p.Leu437Pro)
1g.68429792A>TCA340740561RPE65c.1586T>A (p.Leu529Gln)
c.1310T>A (p.Leu437Gln)
1g.68429793G>ACA418275570RPE65c.1585C>T (p.Leu529=)
c.1309C>T (p.Leu437=)
1g.68429793G>CCA340740563RPE65c.1585C>G (p.Leu529Val)
c.1309C>G (p.Leu437Val)
1g.68429793G>TCA340740565RPE65c.1585C>A (p.Leu529Met)
c.1309C>A (p.Leu437Met)
1g.68429794T>ACA418275572RPE65c.1584A>T (p.Gly528=)
c.1308A>T (p.Gly436=)
1g.68429794T>CCA418275573RPE65c.1584A>G (p.Gly528=)
c.1308A>G (p.Gly436=)
 ClinVar dbSNP
1g.68429794T>GCA418275575RPE65c.1584A>C (p.Gly528=)
c.1308A>C (p.Gly436=)
1g.68429795C>ACA340740566RPE65c.1583G>T (p.Gly528Val)
c.1307G>T (p.Gly436Val)
 ClinVar dbSNP gnomAD v4
1g.68429795C=CA1173557420RPE65c.1583G= (p.Gly528=)
c.1307G= (p.Gly436=)
1g.68429795C>GCA340740570RPE65c.1583G>C (p.Gly528Ala)
c.1307G>C (p.Gly436Ala)
 gnomAD v4
1g.68429795C>TCA340740567RPE65c.1583G>A (p.Gly528Glu)
c.1307G>A (p.Gly436Glu)
1g.68429796C>ACA340740572RPE65c.1582G>T (p.Gly528Ter)
c.1306G>T (p.Gly436Ter)
1g.68429796C=CA1142388964RPE65c.1582G= (p.Gly528=)
c.1306G= (p.Gly436=)
1g.68429796C>GCA340740575RPE65c.1582G>C (p.Gly528Arg)
c.1306G>C (p.Gly436Arg)
1g.68429796C>TCA23562482RPE65c.1582G>A (p.Gly528Arg)
c.1306G>A (p.Gly436Arg)
 ClinVar dbSNP
1g.68429797A=CA1173557421RPE65c.1581T= (p.His527=)
c.1305T= (p.His435=)
1g.68429797A>CCA340740577RPE65c.1581T>G (p.His527Gln)
c.1305T>G (p.His435Gln)
1g.68429797A>GCA902126RPE65c.1581T>C (p.His527=)
c.1305T>C (p.His435=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429797A>TCA340740582RPE65c.1581T>A (p.His527Gln)
c.1305T>A (p.His435Gln)
1g.68429798T>ACA340740584RPE65c.1580A>T (p.His527Leu)
c.1304A>T (p.His435Leu)
1g.68429798T>CCA340740585RPE65c.1580A>G (p.His527Arg)
c.1304A>G (p.His435Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.68429798T>GCA340740587RPE65c.1580A>C (p.His527Pro)
c.1304A>C (p.His435Pro)
1g.68429798T=CA1173557422RPE65c.1580A= (p.His527=)
c.1304A= (p.His435=)
1g.68429799G>ACA902128RPE65c.1579C>T (p.His527Tyr)
c.1303C>T (p.His435Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68429799G>CCA340740590RPE65c.1579C>G (p.His527Asp)
c.1303C>G (p.His435Asp)
1g.68429799G=CA1173557424RPE65c.1579C= (p.His527=)
c.1303C= (p.His435=)
1g.68429799G>TCA340740592RPE65c.1579C>A (p.His527Asn)
c.1303C>A (p.His435Asn)
1g.68429799_68429800delinsGACA1173557423RPE65c.1578_1579delinsTC (p.Phe526=)
c.1302_1303delinsTC (p.Phe434=)
1g.68429800A>CCA340740595RPE65c.1578T>G (p.Phe526Leu)
c.1302T>G (p.Phe434Leu)
1g.68429800A>GCA418275600RPE65c.1578T>C (p.Phe526=)
c.1302T>C (p.Phe434=)
 ClinVar
1g.68429800A>TCA340740597RPE65c.1578T>A (p.Phe526Leu)
c.1302T>A (p.Phe434Leu)
1g.68429802delCA902127RPE65c.1578del (p.His527MetfsTer?)
c.1302del (p.His435MetfsTer?)
 dbSNP ExAC
1g.68429801A>CCA340740598RPE65c.1577T>G (p.Phe526Cys)
c.1301T>G (p.Phe434Cys)
1g.68429801A>GCA340740603RPE65c.1577T>C (p.Phe526Ser)
c.1301T>C (p.Phe434Ser)
1g.68429801A>TCA340740600RPE65c.1577T>A (p.Phe526Tyr)
c.1301T>A (p.Phe434Tyr)
1g.68429802A>CCA340740605RPE65c.1576T>G (p.Phe526Val)
c.1300T>G (p.Phe434Val)
1g.68429802A>GCA340740607RPE65c.1576T>C (p.Phe526Leu)
c.1300T>C (p.Phe434Leu)
1g.68429802A>TCA340740609RPE65c.1576T>A (p.Phe526Ile)
c.1300T>A (p.Phe434Ile)
1g.68429803G>ACA902129RPE65c.1575C>T (p.Thr525=)
c.1299C>T (p.Thr433=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68429803G>CCA418275617RPE65c.1575C>G (p.Thr525=)
c.1299C>G (p.Thr433=)
1g.68429803G=CA1142046334RPE65c.1575C= (p.Thr525=)
c.1299C= (p.Thr433=)
1g.68429803G>TCA418275616RPE65c.1575C>A (p.Thr525=)
c.1299C>A (p.Thr433=)
1g.68429804G>ACA23562514RPE65c.1574C>T (p.Thr525Ile)
c.1298C>T (p.Thr433Ile)
 dbSNP
1g.68429804G>CCA340740614RPE65c.1574C>G (p.Thr525Ser)
c.1298C>G (p.Thr433Ser)
1g.68429804G=CA1173557425RPE65c.1574C= (p.Thr525=)
c.1298C= (p.Thr433=)
1g.68429804G>TCA340740616RPE65c.1574C>A (p.Thr525Asn)
c.1298C>A (p.Thr433Asn)
 ClinVar dbSNP gnomAD v4
1g.68429805T>ACA340740618RPE65c.1573A>T (p.Thr525Ser)
c.1297A>T (p.Thr433Ser)
1g.68429805T>CCA340740620RPE65c.1573A>G (p.Thr525Ala)
c.1297A>G (p.Thr433Ala)
1g.68429805T>GCA340740622RPE65c.1573A>C (p.Thr525Pro)
c.1297A>C (p.Thr433Pro)
1g.68429806G>ACA418275630RPE65c.1572C>T (p.Val524=)
c.1296C>T (p.Val432=)
1g.68429806G>CCA418275632RPE65c.1572C>G (p.Val524=)
c.1296C>G (p.Val432=)
1g.68429806G>TCA418275634RPE65c.1572C>A (p.Val524=)
c.1296C>A (p.Val432=)
1g.68429807A>CCA340740627RPE65c.1571T>G (p.Val524Gly)
c.1295T>G (p.Val432Gly)
1g.68429807A>GCA340740625RPE65c.1571T>C (p.Val524Ala)
c.1295T>C (p.Val432Ala)
1g.68429807A>TCA340740624RPE65c.1571T>A (p.Val524Asp)
c.1295T>A (p.Val432Asp)
1g.68429808C>ACA340740634RPE65c.1570G>T (p.Val524Phe)
c.1294G>T (p.Val432Phe)
1g.68429808C>GCA340740629RPE65c.1570G>C (p.Val524Leu)
c.1294G>C (p.Val432Leu)
1g.68429808C>TCA340740632RPE65c.1570G>A (p.Val524Ile)
c.1294G>A (p.Val432Ile)
1g.68429809A>CCA418275655RPE65c.1569T>G (p.Pro523=)
c.1293T>G (p.Pro431=)
1g.68429809A>GCA418275656RPE65c.1569T>C (p.Pro523=)
c.1293T>C (p.Pro431=)
1g.68429809A>TCA418275660RPE65c.1569T>A (p.Pro523=)
c.1293T>A (p.Pro431=)
1g.68429810G>ACA340740637RPE65c.1568C>T (p.Pro523Leu)
c.1292C>T (p.Pro431Leu)
1g.68429810G>CCA340740639RPE65c.1568C>G (p.Pro523Arg)
c.1292C>G (p.Pro431Arg)
1g.68429810G>TCA340740641RPE65c.1568C>A (p.Pro523His)
c.1292C>A (p.Pro431His)
1g.68429811G>ACA23562518RPE65c.1567C>T (p.Pro523Ser)
c.1291C>T (p.Pro431Ser)
 dbSNP
1g.68429811G>CCA340740644RPE65c.1567C>G (p.Pro523Ala)
c.1291C>G (p.Pro431Ala)
1g.68429811G=CA1173557426RPE65c.1567C= (p.Pro523=)
c.1291C= (p.Pro431=)
1g.68429811G>TCA340740645RPE65c.1567C>A (p.Pro523Thr)
c.1291C>A (p.Pro431Thr)
1g.68429812G>ACA418275677RPE65c.1566C>T (p.Ile522=)
c.1290C>T (p.Ile430=)
1g.68429812G>CCA340740647RPE65c.1566C>G (p.Ile522Met)
c.1290C>G (p.Ile430Met)
1g.68429812G=CA1173557427RPE65c.1566C= (p.Ile522=)
c.1290C= (p.Ile430=)
1g.68429812G>TCA418275674RPE65c.1566C>A (p.Ile522=)
c.1290C>A (p.Ile430=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68429813A>CCA340740650RPE65c.1565T>G (p.Ile522Ser)
c.1289T>G (p.Ile430Ser)
1g.68429813A>GCA340740651RPE65c.1565T>C (p.Ile522Thr)
c.1289T>C (p.Ile430Thr)
1g.68429813A>TCA340740652RPE65c.1565T>A (p.Ile522Asn)
c.1289T>A (p.Ile430Asn)
1g.68429814T>ACA340740657RPE65c.1564A>T (p.Ile522Phe)
c.1288A>T (p.Ile430Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.68429814T>CCA23562520RPE65c.1564A>G (p.Ile522Val)
c.1288A>G (p.Ile430Val)
 dbSNP
1g.68429814T>GCA340740655RPE65c.1564A>C (p.Ile522Leu)
c.1288A>C (p.Ile430Leu)
1g.68429814T=CA1173557428RPE65c.1564A= (p.Ile522=)
c.1288A= (p.Ile430=)
1g.68429815G>ACA418275688RPE65c.1563C>T (p.Asn521=)
c.1287C>T (p.Asn429=)
 ClinVar
1g.68429815G>CCA340740658RPE65c.1563C>G (p.Asn521Lys)
c.1287C>G (p.Asn429Lys)
1g.68429815G>TCA340740665RPE65c.1563C>A (p.Asn521Lys)
c.1287C>A (p.Asn429Lys)
1g.68429816T>ACA23562522RPE65c.1562A>T (p.Asn521Ile)
c.1286A>T (p.Asn429Ile)
 ClinVar dbSNP gnomAD v4
1g.68429816T>CCA340740671RPE65c.1562A>G (p.Asn521Ser)
c.1286A>G (p.Asn429Ser)
1g.68429816T>GCA340740673RPE65c.1562A>C (p.Asn521Thr)
c.1286A>C (p.Asn429Thr)
 dbSNP
1g.68429816T=CA1143431948RPE65c.1562A= (p.Asn521=)
c.1286A= (p.Asn429=)
1g.68429817T>ACA340740675RPE65c.1561A>T (p.Asn521Tyr)
c.1285A>T (p.Asn429Tyr)
1g.68429817T>CCA340740677RPE65c.1561A>G (p.Asn521Asp)
c.1285A>G (p.Asn429Asp)
1g.68429817T>GCA340740679RPE65c.1561A>C (p.Asn521His)
c.1285A>C (p.Asn429His)
1g.68429818A>CCA340740681RPE65c.1560T>G (p.Ile520Met)
c.1284T>G (p.Ile428Met)
1g.68429818A>GCA418275704RPE65c.1560T>C (p.Ile520=)
c.1284T>C (p.Ile428=)
1g.68429818A>TCA418275706RPE65c.1560T>A (p.Ile520=)
c.1284T>A (p.Ile428=)
 ClinVar
1g.68429819A=CA1143538034RPE65c.1559T= (p.Ile520=)
c.1283T= (p.Ile428=)
1g.68429819A>CCA340740683RPE65c.1559T>G (p.Ile520Ser)
c.1283T>G (p.Ile428Ser)
1g.68429819A>GCA226520RPE65c.1559T>C (p.Ile520Thr)
c.1283T>C (p.Ile428Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68429819A>TCA340740685RPE65c.1559T>A (p.Ile520Asn)
c.1283T>A (p.Ile428Asn)
1g.68429820T>ACA340740689RPE65c.1558A>T (p.Ile520Phe)
c.1282A>T (p.Ile428Phe)
1g.68429820T>CCA340740695RPE65c.1558A>G (p.Ile520Val)
c.1282A>G (p.Ile428Val)
 dbSNP gnomAD v4
1g.68429820T>GCA340740687RPE65c.1558A>C (p.Ile520Leu)
c.1282A>C (p.Ile428Leu)
1g.68429820T=CA1173557429RPE65c.1558A= (p.Ile520=)
c.1282A= (p.Ile428=)
1g.68429821C>ACA340740696RPE65c.1557G>T (p.Glu519Asp)
c.1281G>T (p.Glu427Asp)
1g.68429821C>GCA340740698RPE65c.1557G>C (p.Glu519Asp)
c.1281G>C (p.Glu427Asp)
1g.68429821C>TCA418275721RPE65c.1557G>A (p.Glu519=)
c.1281G>A (p.Glu427=)
1g.68429822T>ACA340740699RPE65c.1556A>T (p.Glu519Val)
c.1280A>T (p.Glu427Val)
1g.68429822T>CCA340740701RPE65c.1556A>G (p.Glu519Gly)
c.1280A>G (p.Glu427Gly)
1g.68429822T>GCA340740706RPE65c.1556A>C (p.Glu519Ala)
c.1280A>C (p.Glu427Ala)
1g.68429823C>ACA340740708RPE65c.1555G>T (p.Glu519Ter)
c.1279G>T (p.Glu427Ter)
1g.68429823C=CA1143917445RPE65c.1555G= (p.Glu519=)
c.1279G= (p.Glu427=)
1g.68429823C>GCA340740709RPE65c.1555G>C (p.Glu519Gln)
c.1279G>C (p.Glu427Gln)
1g.68429823C>TCA902130RPE65c.1555G>A (p.Glu519Lys)
c.1279G>A (p.Glu427Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68429824C>ACA418275746RPE65c.1554G>T (p.Val518=)
c.1278G>T (p.Val426=)
 COSMIC
1g.68429824C=CA1173557430RPE65c.1554G= (p.Val518=)
c.1278G= (p.Val426=)
1g.68429824C>GCA418275748RPE65c.1554G>C (p.Val518=)
c.1278G>C (p.Val426=)
1g.68429824C>TCA902131RPE65c.1554G>A (p.Val518=)
c.1278G>A (p.Val426=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429825A=CA1173557431RPE65c.1553T= (p.Val518=)
c.1277T= (p.Val426=)
1g.68429825A>CCA340741002RPE65c.1553T>G (p.Val518Gly)
c.1277T>G (p.Val426Gly)
1g.68429825A>GCA340741004RPE65c.1553T>C (p.Val518Ala)
c.1277T>C (p.Val426Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68429825A>TCA340741005RPE65c.1553T>A (p.Val518Glu)
c.1277T>A (p.Val426Glu)
1g.68429826C>ACA340741006RPE65c.1552G>T (p.Val518Leu)
c.1276G>T (p.Val426Leu)
1g.68429826C=CA1173557432RPE65c.1552G= (p.Val518=)
c.1276G= (p.Val426=)
1g.68429826C>GCA340741008RPE65c.1552G>C (p.Val518Leu)
c.1276G>C (p.Val426Leu)
1g.68429826C>TCA902132RPE65c.1552G>A (p.Val518Met)
c.1276G>A (p.Val426Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429827T>ACA340741011RPE65c.1551A>T (p.Glu517Asp)
c.1275A>T (p.Glu425Asp)
1g.68429827T>CCA418276122RPE65c.1551A>G (p.Glu517=)
c.1275A>G (p.Glu425=)
1g.68429827T>GCA340741013RPE65c.1551A>C (p.Glu517Asp)
c.1275A>C (p.Glu425Asp)
1g.68429828T>ACA340741016RPE65c.1550A>T (p.Glu517Val)
c.1274A>T (p.Glu425Val)
1g.68429828T>CCA340741017RPE65c.1550A>G (p.Glu517Gly)
c.1274A>G (p.Glu425Gly)
1g.68429828T>GCA340741020RPE65c.1550A>C (p.Glu517Ala)
c.1274A>C (p.Glu425Ala)
1g.68429829C>ACA340741025RPE65c.1549G>T (p.Glu517Ter)
c.1273G>T (p.Glu425Ter)
 COSMIC
1g.68429829C>GCA340741027RPE65c.1549G>C (p.Glu517Gln)
c.1273G>C (p.Glu425Gln)
1g.68429829C>TCA340741028RPE65c.1549G>A (p.Glu517Lys)
c.1273G>A (p.Glu425Lys)
1g.68429830A=CA1145672067RPE65c.1548T= (p.Ala516=)
c.1272T= (p.Ala424=)
1g.68429830A>CCA418276129RPE65c.1548T>G (p.Ala516=)
c.1272T>G (p.Ala424=)
1g.68429830A>GCA902133RPE65c.1548T>C (p.Ala516=)
c.1272T>C (p.Ala424=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429830A>TCA418276131RPE65c.1548T>A (p.Ala516=)
c.1272T>A (p.Ala424=)
 gnomAD v4
1g.68429831G>ACA340741030RPE65c.1547C>T (p.Ala516Val)
c.1271C>T (p.Ala424Val)
1g.68429831G>CCA340741032RPE65c.1547C>G (p.Ala516Gly)
c.1271C>G (p.Ala424Gly)
1g.68429831G>TCA340741034RPE65c.1547C>A (p.Ala516Asp)
c.1271C>A (p.Ala424Asp)
1g.68429832C>ACA340741041RPE65c.1546G>T (p.Ala516Ser)
c.1270G>T (p.Ala424Ser)
1g.68429832C>GCA340741039RPE65c.1546G>C (p.Ala516Pro)
c.1270G>C (p.Ala424Pro)
1g.68429832C>TCA340741037RPE65c.1546G>A (p.Ala516Thr)
c.1270G>A (p.Ala424Thr)
1g.68429833C>ACA418276138RPE65c.1545G>T (p.Arg515=)
c.1269G>T (p.Arg423=)
1g.68429833C>GCA418276140RPE65c.1545G>C (p.Arg515=)
c.1269G>C (p.Arg423=)
1g.68429833C>TCA418276137RPE65c.1545G>A (p.Arg515=)
c.1269G>A (p.Arg423=)
 ClinVar dbSNP
1g.68429834C>ACA340741043RPE65c.1544G>T (p.Arg515Leu)
c.1268G>T (p.Arg423Leu)
1g.68429834C=CA1146727845RPE65c.1544G= (p.Arg515=)
c.1268G= (p.Arg423=)
1g.68429834C>GCA340741044RPE65c.1544G>C (p.Arg515Pro)
c.1268G>C (p.Arg423Pro)
1g.68429834C>TCA902134RPE65c.1544G>A (p.Arg515Gln)
c.1268G>A (p.Arg423Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429835G>ACA226519RPE65c.1543C>T (p.Arg515Trp)
c.1267C>T (p.Arg423Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429835G>CCA340741048RPE65c.1543C>G (p.Arg515Gly)
c.1267C>G (p.Arg423Gly)
 dbSNP
1g.68429835G=CA1141580840RPE65c.1543C= (p.Arg515=)
c.1267C= (p.Arg423=)
1g.68429835G>TCA418276146RPE65c.1543C>A (p.Arg515=)
c.1267C>A (p.Arg423=)
 dbSNP COSMIC
1g.68429837delCA2646149685RPE65c.1543del (p.Arg515GlyfsTer?)
c.1267del (p.Arg423GlyfsTer?)
 gnomAD v4
1g.68429836G>ACA418276147RPE65c.1542C>T (p.Ala514=)
c.1266C>T (p.Ala422=)
1g.68429836G>CCA418276149RPE65c.1542C>G (p.Ala514=)
c.1266C>G (p.Ala422=)
1g.68429836G>TCA418276151RPE65c.1542C>A (p.Ala514=)
c.1266C>A (p.Ala422=)
1g.68429837G>ACA340741050RPE65c.1541C>T (p.Ala514Val)
c.1265C>T (p.Ala422Val)
 gnomAD v4
1g.68429837G>CCA340741052RPE65c.1541C>G (p.Ala514Gly)
c.1265C>G (p.Ala422Gly)
1g.68429837G>TCA340741054RPE65c.1541C>A (p.Ala514Asp)
c.1265C>A (p.Ala422Asp)
 dbSNP
1g.68429838C>ACA340741057RPE65c.1540G>T (p.Ala514Ser)
c.1264G>T (p.Ala422Ser)
1g.68429838C>GCA340741059RPE65c.1540G>C (p.Ala514Pro)
c.1264G>C (p.Ala422Pro)
1g.68429838C>TCA340741061RPE65c.1540G>A (p.Ala514Thr)
c.1264G>A (p.Ala422Thr)
 gnomAD v4
1g.68429839A>CCA418276157RPE65c.1539T>G (p.Val513=)
c.1263T>G (p.Val421=)
1g.68429839A>GCA418276159RPE65c.1539T>C (p.Val513=)
c.1263T>C (p.Val421=)
1g.68429839A>TCA418276161RPE65c.1539T>A (p.Val513=)
c.1263T>A (p.Val421=)
 gnomAD v4
1g.68429840A=CA1173557433RPE65c.1538T= (p.Val513=)
c.1262T= (p.Val421=)
1g.68429840A>CCA340741067RPE65c.1538T>G (p.Val513Gly)
c.1262T>G (p.Val421Gly)
1g.68429840A>GCA340741065RPE65c.1538T>C (p.Val513Ala)
c.1262T>C (p.Val421Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.68429840A>TCA340741063RPE65c.1538T>A (p.Val513Asp)
c.1262T>A (p.Val421Asp)
1g.68429841C>ACA340741069RPE65c.1537G>T (p.Val513Phe)
c.1261G>T (p.Val421Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.68429841C=CA1173557434RPE65c.1537G= (p.Val513=)
c.1261G= (p.Val421=)
1g.68429841C>GCA340741071RPE65c.1537G>C (p.Val513Leu)
c.1261G>C (p.Val421Leu)
1g.68429841C>TCA340741073RPE65c.1537G>A (p.Val513Ile)
c.1261G>A (p.Val421Ile)
1g.68429842T>ACA340741076RPE65c.1536A>T (p.Glu512Asp)
c.1260A>T (p.Glu420Asp)
1g.68429842T>CCA418276167RPE65c.1536A>G (p.Glu512=)
c.1260A>G (p.Glu420=)
1g.68429842T>GCA340741078RPE65c.1536A>C (p.Glu512Asp)
c.1260A>C (p.Glu420Asp)
1g.68429843T>ACA340741080RPE65c.1535A>T (p.Glu512Val)
c.1259A>T (p.Glu420Val)
1g.68429843T>CCA340741082RPE65c.1535A>G (p.Glu512Gly)
c.1259A>G (p.Glu420Gly)
 gnomAD v4
1g.68429843T>GCA340741083RPE65c.1535A>C (p.Glu512Ala)
c.1259A>C (p.Glu420Ala)
1g.68429844C>ACA340741086RPE65c.1534G>T (p.Glu512Ter)
c.1258G>T (p.Glu420Ter)
 COSMIC
1g.68429844C=CA1173557435RPE65c.1534G= (p.Glu512=)
c.1258G= (p.Glu420=)
1g.68429844C>GCA340741087RPE65c.1534G>C (p.Glu512Gln)
c.1258G>C (p.Glu420Gln)
1g.68429844C>TCA902135RPE65c.1534G>A (p.Glu512Lys)
c.1258G>A (p.Glu420Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.68429845A=CA1143167365RPE65c.1533T= (p.Ser511=)
c.1257T= (p.Ser419=)
1g.68429845A>CCA902136RPE65c.1533T>G (p.Ser511Arg)
c.1257T>G (p.Ser419Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429845A>GCA418276175RPE65c.1533T>C (p.Ser511=)
c.1257T>C (p.Ser419=)
1g.68429845A>TCA340741091RPE65c.1533T>A (p.Ser511Arg)
c.1257T>A (p.Ser419Arg)
1g.68429846C>ACA340741095RPE65c.1532G>T (p.Ser511Ile)
c.1256G>T (p.Ser419Ile)
1g.68429846C=CA1173557436RPE65c.1532G= (p.Ser511=)
c.1256G= (p.Ser419=)
1g.68429846C>GCA340741097RPE65c.1532G>C (p.Ser511Thr)
c.1256G>C (p.Ser419Thr)
 dbSNP gnomAD v4
1g.68429846C>TCA340741093RPE65c.1532G>A (p.Ser511Asn)
c.1256G>A (p.Ser419Asn)
 ClinVar dbSNP
1g.68429847T>ACA340741103RPE65c.1531A>T (p.Ser511Cys)
c.1255A>T (p.Ser419Cys)
1g.68429847T>CCA340741099RPE65c.1531A>G (p.Ser511Gly)
c.1255A>G (p.Ser419Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.68429847T>GCA340741100RPE65c.1531A>C (p.Ser511Arg)
c.1255A>C (p.Ser419Arg)
1g.68429847T=CA1173557437RPE65c.1531A= (p.Ser511=)
c.1255A= (p.Ser419=)
1g.68429848T>ACA340741105RPE65c.1530A>T (p.Leu510Phe)
c.1254A>T (p.Leu418Phe)
1g.68429848T>CCA418276183RPE65c.1530A>G (p.Leu510=)
c.1254A>G (p.Leu418=)
1g.68429848T>GCA340741106RPE65c.1530A>C (p.Leu510Phe)
c.1254A>C (p.Leu418Phe)
1g.68429849A=CA1173557438RPE65c.1529T= (p.Leu510=)
c.1253T= (p.Leu418=)
1g.68429849A>CCA340741109RPE65c.1529T>G (p.Leu510Ter)
c.1253T>G (p.Leu418Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68429849A>GCA340741110RPE65c.1529T>C (p.Leu510Ser)
c.1253T>C (p.Leu418Ser)
1g.68429849A>TCA340741112RPE65c.1529T>A (p.Leu510Ter)
c.1253T>A (p.Leu418Ter)
1g.68429850A=CA1173557439RPE65c.1528T= (p.Leu510=)
c.1252T= (p.Leu418=)
1g.68429850A>CCA340741114RPE65c.1528T>G (p.Leu510Val)
c.1252T>G (p.Leu418Val)
 dbSNP gnomAD v3 gnomAD v4
1g.68429850A>GCA418276189RPE65c.1528T>C (p.Leu510=)
c.1252T>C (p.Leu418=)
 ClinVar
1g.68429850A>TCA340741115RPE65c.1528T>A (p.Leu510Ile)
c.1252T>A (p.Leu418Ile)
1g.68429851G>ACA418276192RPE65c.1527C>T (p.Asp509=)
c.1251C>T (p.Asp417=)
1g.68429851G>CCA340741117RPE65c.1527C>G (p.Asp509Glu)
c.1251C>G (p.Asp417Glu)
1g.68429851G>TCA340741118RPE65c.1527C>A (p.Asp509Glu)
c.1251C>A (p.Asp417Glu)
1g.68429852T>ACA340741121RPE65c.1526A>T (p.Asp509Val)
c.1250A>T (p.Asp417Val)
1g.68429852T>CCA340741123RPE65c.1526A>G (p.Asp509Gly)
c.1250A>G (p.Asp417Gly)
 dbSNP
1g.68429852T>GCA340741124RPE65c.1526A>C (p.Asp509Ala)
c.1250A>C (p.Asp417Ala)
1g.68429852T=CA1173557440RPE65c.1526A= (p.Asp509=)
c.1250A= (p.Asp417=)
1g.68429853C>ACA340741130RPE65c.1525G>T (p.Asp509Tyr)
c.1249G>T (p.Asp417Tyr)
1g.68429853C>GCA340741127RPE65c.1525G>C (p.Asp509His)
c.1249G>C (p.Asp417His)
1g.68429853C>TCA340741129RPE65c.1525G>A (p.Asp509Asn)
c.1249G>A (p.Asp417Asn)
 ClinVar
1g.68429854C>ACA340741133RPE65c.1524G>T (p.Lys508Asn)
c.1248G>T (p.Lys416Asn)
1g.68429854C=CA1143656545RPE65c.1524G= (p.Lys508=)
c.1248G= (p.Lys416=)
1g.68429854C>GCA23562561RPE65c.1524G>C (p.Lys508Asn)
c.1248G>C (p.Lys416Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.68429854C>TCA902137RPE65c.1524G>A (p.Lys508=)
c.1248G>A (p.Lys416=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429855T>ACA340741134RPE65c.1523A>T (p.Lys508Met)
c.1247A>T (p.Lys416Met)
1g.68429855T>CCA340741135RPE65c.1523A>G (p.Lys508Arg)
c.1247A>G (p.Lys416Arg)
1g.68429855T>GCA340741136RPE65c.1523A>C (p.Lys508Thr)
c.1247A>C (p.Lys416Thr)
1g.68429856T>ACA340741139RPE65c.1522A>T (p.Lys508Ter)
c.1246A>T (p.Lys416Ter)
1g.68429856T>CCA340741140RPE65c.1522A>G (p.Lys508Glu)
c.1246A>G (p.Lys416Glu)
1g.68429856T>GCA340741142RPE65c.1522A>C (p.Lys508Gln)
c.1246A>C (p.Lys416Gln)
1g.68429857G>ACA418276205RPE65c.1521C>T (p.Ala507=)
c.1245C>T (p.Ala415=)
1g.68429857G>CCA418276206RPE65c.1521C>G (p.Ala507=)
c.1245C>G (p.Ala415=)
1g.68429857G>TCA418276208RPE65c.1521C>A (p.Ala507=)
c.1245C>A (p.Ala415=)
1g.68429858G>ACA340741145RPE65c.1520C>T (p.Ala507Val)
c.1244C>T (p.Ala415Val)
 dbSNP gnomAD v2 gnomAD v4
1g.68429858G>CCA23562570RPE65c.1520C>G (p.Ala507Gly)
c.1244C>G (p.Ala415Gly)
 dbSNP gnomAD v4
1g.68429858G=CA1143483024RPE65c.1520C= (p.Ala507=)
c.1244C= (p.Ala415=)
1g.68429858G>TCA340741148RPE65c.1520C>A (p.Ala507Asp)
c.1244C>A (p.Ala415Asp)
1g.68429859C>ACA902138RPE65c.1519G>T (p.Ala507Ser)
c.1243G>T (p.Ala415Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429859C=CA1173557441RPE65c.1519G= (p.Ala507=)
c.1243G= (p.Ala415=)
1g.68429859C>GCA340741154RPE65c.1519G>C (p.Ala507Pro)
c.1243G>C (p.Ala415Pro)
1g.68429859C>TCA340741151RPE65c.1519G>A (p.Ala507Thr)
c.1243G>A (p.Ala415Thr)
1g.68429860A>CCA340741156RPE65c.1518T>G (p.Asn506Lys)
c.1242T>G (p.Asn414Lys)
 gnomAD v4
1g.68429860A>GCA418276222RPE65c.1518T>C (p.Asn506=)
c.1242T>C (p.Asn414=)
 ClinVar dbSNP
1g.68429860A>TCA340741158RPE65c.1518T>A (p.Asn506Lys)
c.1242T>A (p.Asn414Lys)
1g.68429861T>ACA340741161RPE65c.1517A>T (p.Asn506Ile)
c.1241A>T (p.Asn414Ile)
1g.68429861T>CCA340741163RPE65c.1517A>G (p.Asn506Ser)
c.1241A>G (p.Asn414Ser)
1g.68429861T>GCA340741165RPE65c.1517A>C (p.Asn506Thr)
c.1241A>C (p.Asn414Thr)
1g.68429862T>ACA340741166RPE65c.1516A>T (p.Asn506Tyr)
c.1240A>T (p.Asn414Tyr)
 gnomAD v4
1g.68429862T>CCA340741167RPE65c.1516A>G (p.Asn506Asp)
c.1240A>G (p.Asn414Asp)
1g.68429862T>GCA340741168RPE65c.1516A>C (p.Asn506His)
c.1240A>C (p.Asn414His)
1g.68429863C>ACA418276233RPE65c.1515G>T (p.Leu505=)
c.1239G>T (p.Leu413=)
1g.68429863C>GCA418276235RPE65c.1515G>C (p.Leu505=)
c.1239G>C (p.Leu413=)
1g.68429863C>TCA418276239RPE65c.1515G>A (p.Leu505=)
c.1239G>A (p.Leu413=)
 ClinVar dbSNP
1g.68429864A=CA1173557442RPE65c.1514T= (p.Leu505=)
c.1238T= (p.Leu413=)
1g.68429864A>CCA23562585RPE65c.1514T>G (p.Leu505Arg)
c.1238T>G (p.Leu413Arg)
 dbSNP gnomAD v4
1g.68429864A>GCA340741171RPE65c.1514T>C (p.Leu505Pro)
c.1238T>C (p.Leu413Pro)
 gnomAD v4
1g.68429864A>TCA340741174RPE65c.1514T>A (p.Leu505Gln)
c.1238T>A (p.Leu413Gln)
1g.68429865G>ACA418276248RPE65c.1513C>T (p.Leu505=)
c.1237C>T (p.Leu413=)
 ClinVar
1g.68429865G>CCA340741176RPE65c.1513C>G (p.Leu505Val)
c.1237C>G (p.Leu413Val)
1g.68429865G>TCA340741178RPE65c.1513C>A (p.Leu505Met)
c.1237C>A (p.Leu413Met)
1g.68429866A>CCA340741179RPE65c.1512T>G (p.Ile504Met)
c.1236T>G (p.Ile412Met)
1g.68429866A>GCA418276255RPE65c.1512T>C (p.Ile504=)
c.1236T>C (p.Ile412=)
1g.68429866A>TCA418276258RPE65c.1512T>A (p.Ile504=)
c.1236T>A (p.Ile412=)
1g.68429867A>CCA340741181RPE65c.1511T>G (p.Ile504Ser)
c.1235T>G (p.Ile412Ser)
1g.68429867A>GCA340741184RPE65c.1511T>C (p.Ile504Thr)
c.1235T>C (p.Ile412Thr)
1g.68429867A>TCA340741187RPE65c.1511T>A (p.Ile504Asn)
c.1235T>A (p.Ile412Asn)
1g.68429868T>ACA340741190RPE65c.1510A>T (p.Ile504Phe)
c.1234A>T (p.Ile412Phe)
1g.68429868T>CCA340741192RPE65c.1510A>G (p.Ile504Val)
c.1234A>G (p.Ile412Val)
1g.68429868T>GCA340741194RPE65c.1510A>C (p.Ile504Leu)
c.1234A>C (p.Ile412Leu)
1g.68429869C>ACA418276271RPE65c.1509G>T (p.Leu503=)
c.1233G>T (p.Leu411=)
1g.68429869C=CA1173557443RPE65c.1509G= (p.Leu503=)
c.1233G= (p.Leu411=)
1g.68429869C>GCA418276274RPE65c.1509G>C (p.Leu503=)
c.1233G>C (p.Leu411=)
1g.68429869C>TCA902139RPE65c.1509G>A (p.Leu503=)
c.1233G>A (p.Leu411=)
 ClinVar dbSNP ExAC gnomAD v2
1g.68429870A>CCA340741199RPE65c.1508T>G (p.Leu503Arg)
c.1232T>G (p.Leu411Arg)
1g.68429870A>GCA340741202RPE65c.1508T>C (p.Leu503Pro)
c.1232T>C (p.Leu411Pro)
1g.68429870A>TCA340741204RPE65c.1508T>A (p.Leu503Gln)
c.1232T>A (p.Leu411Gln)
1g.68429871G>ACA418276284RPE65c.1507C>T (p.Leu503=)
c.1231C>T (p.Leu411=)
 dbSNP gnomAD v3 gnomAD v4
1g.68429871G>CCA340741206RPE65c.1507C>G (p.Leu503Val)
c.1231C>G (p.Leu411Val)
1g.68429871G=CA1173557444RPE65c.1507C= (p.Leu503=)
c.1231C= (p.Leu411=)
1g.68429871G>TCA340741208RPE65c.1507C>A (p.Leu503Met)
c.1231C>A (p.Leu411Met)
1g.68429872G>ACA418276291RPE65c.1506C>T (p.Leu502=)
c.1230C>T (p.Leu410=)
 dbSNP gnomAD v2 gnomAD v4
1g.68429872G>CCA418276293RPE65c.1506C>G (p.Leu502=)
c.1230C>G (p.Leu410=)
 gnomAD v4
1g.68429872G=CA1173557445RPE65c.1506C= (p.Leu502=)
c.1230C= (p.Leu410=)
1g.68429872G>TCA418276294RPE65c.1506C>A (p.Leu502=)
c.1230C>A (p.Leu410=)
1g.68429873A>CCA340741213RPE65c.1505T>G (p.Leu502Arg)
c.1229T>G (p.Leu410Arg)
1g.68429873A>GCA340741216RPE65c.1505T>C (p.Leu502Pro)
c.1229T>C (p.Leu410Pro)
1g.68429873A>TCA340741211RPE65c.1505T>A (p.Leu502His)
c.1229T>A (p.Leu410His)
1g.68429875_68429879delCA2573132570RPE65c.1501_1505del (p.Tyr501ProfsTer10)
c.1225_1229del (p.Tyr409ProfsTer10)
 ClinVar dbSNP
1g.68429874G>ACA340741222RPE65c.1504C>T (p.Leu502Phe)
c.1228C>T (p.Leu410Phe)
 gnomAD v4
1g.68429874G>CCA340741218RPE65c.1504C>G (p.Leu502Val)
c.1228C>G (p.Leu410Val)
1g.68429874G>TCA340741220RPE65c.1504C>A (p.Leu502Ile)
c.1228C>A (p.Leu410Ile)
1g.68429875A>CCA340741225RPE65c.1503T>G (p.Tyr501Ter)
c.1227T>G (p.Tyr409Ter)
1g.68429875A>GCA418276308RPE65c.1503T>C (p.Tyr501=)
c.1227T>C (p.Tyr409=)
1g.68429875A>TCA340741228RPE65c.1503T>A (p.Tyr501Ter)
c.1227T>A (p.Tyr409Ter)
 ClinVar
1g.68429876T>ACA340741230RPE65c.1502A>T (p.Tyr501Phe)
c.1226A>T (p.Tyr409Phe)
1g.68429876T>CCA340741233RPE65c.1502A>G (p.Tyr501Cys)
c.1226A>G (p.Tyr409Cys)
 gnomAD v4
1g.68429876T>GCA340741236RPE65c.1502A>C (p.Tyr501Ser)
c.1226A>C (p.Tyr409Ser)
1g.68429877A>CCA340741240RPE65c.1501T>G (p.Tyr501Asp)
c.1225T>G (p.Tyr409Asp)
1g.68429877A>GCA340741242RPE65c.1501T>C (p.Tyr501His)
c.1225T>C (p.Tyr409His)
1g.68429877A>TCA340741245RPE65c.1501T>A (p.Tyr501Asn)
c.1225T>A (p.Tyr409Asn)
1g.68429877_68429878insTCA645525123RPE65c.1500_1501insA (p.Tyr501IlefsTer12)
c.1224_1225insA (p.Tyr409IlefsTer12)
 COSMIC
1g.68429878A>CCA418276328RPE65c.1500T>G (p.Ala500=)
c.1224T>G (p.Ala408=)
1g.68429878A>GCA418276325RPE65c.1500T>C (p.Ala500=)
c.1224T>C (p.Ala408=)
1g.68429878A>TCA418276323RPE65c.1500T>A (p.Ala500=)
c.1224T>A (p.Ala408=)
1g.68429879G>ACA340741248RPE65c.1499C>T (p.Ala500Val)
c.1223C>T (p.Ala408Val)
1g.68429879G>CCA340741251RPE65c.1499C>G (p.Ala500Gly)
c.1223C>G (p.Ala408Gly)
 gnomAD v4
1g.68429879G>TCA340741254RPE65c.1499C>A (p.Ala500Asp)
c.1223C>A (p.Ala408Asp)
1g.68429880C>ACA340741262RPE65c.1498G>T (p.Ala500Ser)
c.1222G>T (p.Ala408Ser)
 dbSNP
1g.68429880C=CA1173557446RPE65c.1498G= (p.Ala500=)
c.1222G= (p.Ala408=)
1g.68429880C>GCA340741267RPE65c.1498G>C (p.Ala500Pro)
c.1222G>C (p.Ala408Pro)
1g.68429880C>TCA340741264RPE65c.1498G>A (p.Ala500Thr)
c.1222G>A (p.Ala408Thr)
1g.68429881A>CCA418276342RPE65c.1497T>G (p.Pro499=)
c.1221T>G (p.Pro407=)
1g.68429881A>GCA418276347RPE65c.1497T>C (p.Pro499=)
c.1221T>C (p.Pro407=)
1g.68429881A>TCA418276345RPE65c.1497T>A (p.Pro499=)
c.1221T>A (p.Pro407=)
1g.68429882G>ACA340741271RPE65c.1496C>T (p.Pro499Leu)
c.1220C>T (p.Pro407Leu)
 ClinVar dbSNP
1g.68429882G>CCA340741272RPE65c.1496C>G (p.Pro499Arg)
c.1220C>G (p.Pro407Arg)
1g.68429882G=CA1173557447RPE65c.1496C= (p.Pro499=)
c.1220C= (p.Pro407=)
1g.68429882G>TCA340741277RPE65c.1496C>A (p.Pro499His)
c.1220C>A (p.Pro407His)
1g.68429883G>ACA340741281RPE65c.1495C>T (p.Pro499Ser)
c.1219C>T (p.Pro407Ser)
 COSMIC
1g.68429883G>CCA340741282RPE65c.1495C>G (p.Pro499Ala)
c.1219C>G (p.Pro407Ala)
1g.68429883G>TCA340741286RPE65c.1495C>A (p.Pro499Thr)
c.1219C>A (p.Pro407Thr)
 COSMIC
1g.68429884C>ACA902140RPE65c.1494G>T (p.Lys498Asn)
c.1218G>T (p.Lys406Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.68429884C=CA1173557448RPE65c.1494G= (p.Lys498=)
c.1218G= (p.Lys406=)
1g.68429884C>GCA340741291RPE65c.1494G>C (p.Lys498Asn)
c.1218G>C (p.Lys406Asn)
1g.68429884C>TCA418276361RPE65c.1494G>A (p.Lys498=)
c.1218G>A (p.Lys406=)
 dbSNP gnomAD v4
1g.68429885T>ACA340741295RPE65c.1493A>T (p.Lys498Met)
c.1217A>T (p.Lys406Met)
1g.68429885T>CCA340741298RPE65c.1493A>G (p.Lys498Arg)
c.1217A>G (p.Lys406Arg)
1g.68429885T>GCA340741300RPE65c.1493A>C (p.Lys498Thr)
c.1217A>C (p.Lys406Thr)
 gnomAD v4
1g.68429886T>ACA340741309RPE65c.1492A>T (p.Lys498Ter)
c.1216A>T (p.Lys406Ter)
1g.68429886T>CCA340741311RPE65c.1492A>G (p.Lys498Glu)
c.1216A>G (p.Lys406Glu)
1g.68429886T>GCA340741306RPE65c.1492A>C (p.Lys498Gln)
c.1216A>C (p.Lys406Gln)
1g.68429887T>ACA902141RPE65c.1491A>T (p.Gln497His)
c.1215A>T (p.Gln405His)
 dbSNP ExAC gnomAD v2
1g.68429887T>CCA418276375RPE65c.1491A>G (p.Gln497=)
c.1215A>G (p.Gln405=)
 ClinVar dbSNP
1g.68429887T>GCA23562597RPE65c.1491A>C (p.Gln497His)
c.1215A>C (p.Gln405His)
 dbSNP
1g.68429887T=CA1173557449RPE65c.1491A= (p.Gln497=)
c.1215A= (p.Gln405=)
1g.68429888T>ACA340741319RPE65c.1490A>T (p.Gln497Leu)
c.1214A>T (p.Gln405Leu)
1g.68429888T>CCA23562609RPE65c.1490A>G (p.Gln497Arg)
c.1214A>G (p.Gln405Arg)
 dbSNP gnomAD v4
1g.68429888T>GCA340741321RPE65c.1490A>C (p.Gln497Pro)
c.1214A>C (p.Gln405Pro)
1g.68429888T=CA1148229420RPE65c.1490A= (p.Gln497=)
c.1214A= (p.Gln405=)

Number of alleles fetched