Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68429809A>C | CA418275655 | RPE65 | c.1569T>G (p.Pro523=) c.1293T>G (p.Pro431=) | |
1 | g.68429809A>G | CA418275656 | RPE65 | c.1569T>C (p.Pro523=) c.1293T>C (p.Pro431=) | |
1 | g.68429809A>T | CA418275660 | RPE65 | c.1569T>A (p.Pro523=) c.1293T>A (p.Pro431=) | |
1 | g.68429810G>A | CA340740637 | RPE65 | c.1568C>T (p.Pro523Leu) c.1292C>T (p.Pro431Leu) | |
1 | g.68429810G>C | CA340740639 | RPE65 | c.1568C>G (p.Pro523Arg) c.1292C>G (p.Pro431Arg) | |
1 | g.68429810G>T | CA340740641 | RPE65 | c.1568C>A (p.Pro523His) c.1292C>A (p.Pro431His) | |
1 | g.68429812dup | CA2838572909 | RPE65 | c.1568dup (p.Val524CysfsTer?) c.1292dup (p.Val432CysfsTer?) | |
1 | g.68429811G>A | CA23562518 | RPE65 | c.1567C>T (p.Pro523Ser) c.1291C>T (p.Pro431Ser) | dbSNP |
1 | g.68429811G>C | CA340740644 | RPE65 | c.1567C>G (p.Pro523Ala) c.1291C>G (p.Pro431Ala) | |
1 | g.68429811G= | CA1173557426 | RPE65 | c.1567C= (p.Pro523=) c.1291C= (p.Pro431=) | |
1 | g.68429811G>T | CA340740645 | RPE65 | c.1567C>A (p.Pro523Thr) c.1291C>A (p.Pro431Thr) | |
1 | g.68429812G>A | CA418275677 | RPE65 | c.1566C>T (p.Ile522=) c.1290C>T (p.Ile430=) | |
1 | g.68429812G>C | CA340740647 | RPE65 | c.1566C>G (p.Ile522Met) c.1290C>G (p.Ile430Met) | |
1 | g.68429812G= | CA1173557427 | RPE65 | c.1566C= (p.Ile522=) c.1290C= (p.Ile430=) | |
1 | g.68429812G>T | CA418275674 | RPE65 | c.1566C>A (p.Ile522=) c.1290C>A (p.Ile430=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429813A>C | CA340740650 | RPE65 | c.1565T>G (p.Ile522Ser) c.1289T>G (p.Ile430Ser) | |
1 | g.68429813A>G | CA340740651 | RPE65 | c.1565T>C (p.Ile522Thr) c.1289T>C (p.Ile430Thr) | |
1 | g.68429813A>T | CA340740652 | RPE65 | c.1565T>A (p.Ile522Asn) c.1289T>A (p.Ile430Asn) | |
1 | g.68429814T>A | CA340740657 | RPE65 | c.1564A>T (p.Ile522Phe) c.1288A>T (p.Ile430Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429814T>C | CA23562520 | RPE65 | c.1564A>G (p.Ile522Val) c.1288A>G (p.Ile430Val) | dbSNP |
1 | g.68429814T>G | CA340740655 | RPE65 | c.1564A>C (p.Ile522Leu) c.1288A>C (p.Ile430Leu) | |
1 | g.68429814T= | CA1173557428 | RPE65 | c.1564A= (p.Ile522=) c.1288A= (p.Ile430=) | |
1 | g.68429815G>A | CA418275688 | RPE65 | c.1563C>T (p.Asn521=) c.1287C>T (p.Asn429=) | ClinVar |
1 | g.68429815G>C | CA340740658 | RPE65 | c.1563C>G (p.Asn521Lys) c.1287C>G (p.Asn429Lys) | |
1 | g.68429815G>T | CA340740665 | RPE65 | c.1563C>A (p.Asn521Lys) c.1287C>A (p.Asn429Lys) | |
1 | g.68429816T>A | CA23562522 | RPE65 | c.1562A>T (p.Asn521Ile) c.1286A>T (p.Asn429Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.68429816T>C | CA340740671 | RPE65 | c.1562A>G (p.Asn521Ser) c.1286A>G (p.Asn429Ser) | |
1 | g.68429816T>G | CA340740673 | RPE65 | c.1562A>C (p.Asn521Thr) c.1286A>C (p.Asn429Thr) | dbSNP |
1 | g.68429816T= | CA1143431948 | RPE65 | c.1562A= (p.Asn521=) c.1286A= (p.Asn429=) | |
1 | g.68429817dup | CA2838572907 | RPE65 | c.1562dup (p.Asn521LysfsTer?) c.1286dup (p.Asn429LysfsTer?) | |
1 | g.68429817T>A | CA340740675 | RPE65 | c.1561A>T (p.Asn521Tyr) c.1285A>T (p.Asn429Tyr) | |
1 | g.68429817T>C | CA340740677 | RPE65 | c.1561A>G (p.Asn521Asp) c.1285A>G (p.Asn429Asp) | |
1 | g.68429817T>G | CA340740679 | RPE65 | c.1561A>C (p.Asn521His) c.1285A>C (p.Asn429His) | |
1 | g.68429818A>C | CA340740681 | RPE65 | c.1560T>G (p.Ile520Met) c.1284T>G (p.Ile428Met) | |
1 | g.68429818A>G | CA418275704 | RPE65 | c.1560T>C (p.Ile520=) c.1284T>C (p.Ile428=) | |
1 | g.68429818A>T | CA418275706 | RPE65 | c.1560T>A (p.Ile520=) c.1284T>A (p.Ile428=) | ClinVar |
1 | g.68429819A= | CA1143538034 | RPE65 | c.1559T= (p.Ile520=) c.1283T= (p.Ile428=) | |
1 | g.68429819A>C | CA340740683 | RPE65 | c.1559T>G (p.Ile520Ser) c.1283T>G (p.Ile428Ser) | |
1 | g.68429819A>G | CA226520 | RPE65 | c.1559T>C (p.Ile520Thr) c.1283T>C (p.Ile428Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429819A>T | CA340740685 | RPE65 | c.1559T>A (p.Ile520Asn) c.1283T>A (p.Ile428Asn) | |
1 | g.68429820T>A | CA340740689 | RPE65 | c.1558A>T (p.Ile520Phe) c.1282A>T (p.Ile428Phe) | |
1 | g.68429820T>C | CA340740695 | RPE65 | c.1558A>G (p.Ile520Val) c.1282A>G (p.Ile428Val) | dbSNP gnomAD v4 |
1 | g.68429820T>G | CA340740687 | RPE65 | c.1558A>C (p.Ile520Leu) c.1282A>C (p.Ile428Leu) | |
1 | g.68429820T= | CA1173557429 | RPE65 | c.1558A= (p.Ile520=) c.1282A= (p.Ile428=) | |
1 | g.68429821C>A | CA340740696 | RPE65 | c.1557G>T (p.Glu519Asp) c.1281G>T (p.Glu427Asp) | |
1 | g.68429821C>G | CA340740698 | RPE65 | c.1557G>C (p.Glu519Asp) c.1281G>C (p.Glu427Asp) | |
1 | g.68429821C>T | CA418275721 | RPE65 | c.1557G>A (p.Glu519=) c.1281G>A (p.Glu427=) | |
1 | g.68429822T>A | CA340740699 | RPE65 | c.1556A>T (p.Glu519Val) c.1280A>T (p.Glu427Val) | |
1 | g.68429822T>C | CA340740701 | RPE65 | c.1556A>G (p.Glu519Gly) c.1280A>G (p.Glu427Gly) | |
1 | g.68429822T>G | CA340740706 | RPE65 | c.1556A>C (p.Glu519Ala) c.1280A>C (p.Glu427Ala) | |
1 | g.68429823C>A | CA340740708 | RPE65 | c.1555G>T (p.Glu519Ter) c.1279G>T (p.Glu427Ter) | |
1 | g.68429823C= | CA1143917445 | RPE65 | c.1555G= (p.Glu519=) c.1279G= (p.Glu427=) | |
1 | g.68429823C>G | CA340740709 | RPE65 | c.1555G>C (p.Glu519Gln) c.1279G>C (p.Glu427Gln) | |
1 | g.68429823C>T | CA902130 | RPE65 | c.1555G>A (p.Glu519Lys) c.1279G>A (p.Glu427Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429824C>A | CA418275746 | RPE65 | c.1554G>T (p.Val518=) c.1278G>T (p.Val426=) | COSMIC |
1 | g.68429824C= | CA1173557430 | RPE65 | c.1554G= (p.Val518=) c.1278G= (p.Val426=) | |
1 | g.68429824C>G | CA418275748 | RPE65 | c.1554G>C (p.Val518=) c.1278G>C (p.Val426=) | |
1 | g.68429824C>T | CA902131 | RPE65 | c.1554G>A (p.Val518=) c.1278G>A (p.Val426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429825A= | CA1173557431 | RPE65 | c.1553T= (p.Val518=) c.1277T= (p.Val426=) | |
1 | g.68429825A>C | CA340741002 | RPE65 | c.1553T>G (p.Val518Gly) c.1277T>G (p.Val426Gly) | |
1 | g.68429825A>G | CA340741004 | RPE65 | c.1553T>C (p.Val518Ala) c.1277T>C (p.Val426Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429825A>T | CA340741005 | RPE65 | c.1553T>A (p.Val518Glu) c.1277T>A (p.Val426Glu) | |
1 | g.68429826C>A | CA340741006 | RPE65 | c.1552G>T (p.Val518Leu) c.1276G>T (p.Val426Leu) | |
1 | g.68429826C= | CA1173557432 | RPE65 | c.1552G= (p.Val518=) c.1276G= (p.Val426=) | |
1 | g.68429826C>G | CA340741008 | RPE65 | c.1552G>C (p.Val518Leu) c.1276G>C (p.Val426Leu) | |
1 | g.68429826C>T | CA902132 | RPE65 | c.1552G>A (p.Val518Met) c.1276G>A (p.Val426Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429827T>A | CA340741011 | RPE65 | c.1551A>T (p.Glu517Asp) c.1275A>T (p.Glu425Asp) | |
1 | g.68429827T>C | CA418276122 | RPE65 | c.1551A>G (p.Glu517=) c.1275A>G (p.Glu425=) | |
1 | g.68429827T>G | CA340741013 | RPE65 | c.1551A>C (p.Glu517Asp) c.1275A>C (p.Glu425Asp) | |
1 | g.68429828T>A | CA340741016 | RPE65 | c.1550A>T (p.Glu517Val) c.1274A>T (p.Glu425Val) | |
1 | g.68429828T>C | CA340741017 | RPE65 | c.1550A>G (p.Glu517Gly) c.1274A>G (p.Glu425Gly) | |
1 | g.68429828T>G | CA340741020 | RPE65 | c.1550A>C (p.Glu517Ala) c.1274A>C (p.Glu425Ala) | |
1 | g.68429829C>A | CA340741025 | RPE65 | c.1549G>T (p.Glu517Ter) c.1273G>T (p.Glu425Ter) | COSMIC |
1 | g.68429829C>G | CA340741027 | RPE65 | c.1549G>C (p.Glu517Gln) c.1273G>C (p.Glu425Gln) | |
1 | g.68429829C>T | CA340741028 | RPE65 | c.1549G>A (p.Glu517Lys) c.1273G>A (p.Glu425Lys) | |
1 | g.68429830A= | CA1145672067 | RPE65 | c.1548T= (p.Ala516=) c.1272T= (p.Ala424=) | |
1 | g.68429830A>C | CA418276129 | RPE65 | c.1548T>G (p.Ala516=) c.1272T>G (p.Ala424=) | |
1 | g.68429830A>G | CA902133 | RPE65 | c.1548T>C (p.Ala516=) c.1272T>C (p.Ala424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429830A>T | CA418276131 | RPE65 | c.1548T>A (p.Ala516=) c.1272T>A (p.Ala424=) | gnomAD v4 |
1 | g.68429831G>A | CA340741030 | RPE65 | c.1547C>T (p.Ala516Val) c.1271C>T (p.Ala424Val) | |
1 | g.68429831G>C | CA340741032 | RPE65 | c.1547C>G (p.Ala516Gly) c.1271C>G (p.Ala424Gly) | |
1 | g.68429831G>T | CA340741034 | RPE65 | c.1547C>A (p.Ala516Asp) c.1271C>A (p.Ala424Asp) | |
1 | g.68429832C>A | CA340741041 | RPE65 | c.1546G>T (p.Ala516Ser) c.1270G>T (p.Ala424Ser) | |
1 | g.68429832C>G | CA340741039 | RPE65 | c.1546G>C (p.Ala516Pro) c.1270G>C (p.Ala424Pro) | |
1 | g.68429832C>T | CA340741037 | RPE65 | c.1546G>A (p.Ala516Thr) c.1270G>A (p.Ala424Thr) | |
1 | g.68429834del | CA2838032298 | RPE65 | c.1546del (p.Ala516LeufsTer?) c.1270del (p.Ala424LeufsTer?) | |
1 | g.68429833C>A | CA418276138 | RPE65 | c.1545G>T (p.Arg515=) c.1269G>T (p.Arg423=) | |
1 | g.68429833C>G | CA418276140 | RPE65 | c.1545G>C (p.Arg515=) c.1269G>C (p.Arg423=) | |
1 | g.68429833C>T | CA418276137 | RPE65 | c.1545G>A (p.Arg515=) c.1269G>A (p.Arg423=) | ClinVar dbSNP |
1 | g.68429834C>A | CA340741043 | RPE65 | c.1544G>T (p.Arg515Leu) c.1268G>T (p.Arg423Leu) | |
1 | g.68429834C= | CA1146727845 | RPE65 | c.1544G= (p.Arg515=) c.1268G= (p.Arg423=) | |
1 | g.68429834C>G | CA340741044 | RPE65 | c.1544G>C (p.Arg515Pro) c.1268G>C (p.Arg423Pro) | |
1 | g.68429834C>T | CA902134 | RPE65 | c.1544G>A (p.Arg515Gln) c.1268G>A (p.Arg423Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429835G>A | CA226519 | RPE65 | c.1543C>T (p.Arg515Trp) c.1267C>T (p.Arg423Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429835G>C | CA340741048 | RPE65 | c.1543C>G (p.Arg515Gly) c.1267C>G (p.Arg423Gly) | dbSNP |
1 | g.68429835G= | CA1141580840 | RPE65 | c.1543C= (p.Arg515=) c.1267C= (p.Arg423=) | |
1 | g.68429835G>T | CA418276146 | RPE65 | c.1543C>A (p.Arg515=) c.1267C>A (p.Arg423=) | dbSNP COSMIC |
1 | g.68429837del | CA2646149685 | RPE65 | c.1543del (p.Arg515GlyfsTer?) c.1267del (p.Arg423GlyfsTer?) | gnomAD v4 |
1 | g.68429836G>A | CA418276147 | RPE65 | c.1542C>T (p.Ala514=) c.1266C>T (p.Ala422=) | |
1 | g.68429836G>C | CA418276149 | RPE65 | c.1542C>G (p.Ala514=) c.1266C>G (p.Ala422=) | |
1 | g.68429836G>T | CA418276151 | RPE65 | c.1542C>A (p.Ala514=) c.1266C>A (p.Ala422=) | |
1 | g.68429837G>A | CA340741050 | RPE65 | c.1541C>T (p.Ala514Val) c.1265C>T (p.Ala422Val) | gnomAD v4 |
1 | g.68429837G>C | CA340741052 | RPE65 | c.1541C>G (p.Ala514Gly) c.1265C>G (p.Ala422Gly) | |
1 | g.68429837G>T | CA340741054 | RPE65 | c.1541C>A (p.Ala514Asp) c.1265C>A (p.Ala422Asp) | dbSNP |
1 | g.68429838C>A | CA340741057 | RPE65 | c.1540G>T (p.Ala514Ser) c.1264G>T (p.Ala422Ser) | |
1 | g.68429838C>G | CA340741059 | RPE65 | c.1540G>C (p.Ala514Pro) c.1264G>C (p.Ala422Pro) | |
1 | g.68429838C>T | CA340741061 | RPE65 | c.1540G>A (p.Ala514Thr) c.1264G>A (p.Ala422Thr) | gnomAD v4 |
1 | g.68429839A>C | CA418276157 | RPE65 | c.1539T>G (p.Val513=) c.1263T>G (p.Val421=) | |
1 | g.68429839A>G | CA418276159 | RPE65 | c.1539T>C (p.Val513=) c.1263T>C (p.Val421=) | |
1 | g.68429839A>T | CA418276161 | RPE65 | c.1539T>A (p.Val513=) c.1263T>A (p.Val421=) | gnomAD v4 |
1 | g.68429840A= | CA1173557433 | RPE65 | c.1538T= (p.Val513=) c.1262T= (p.Val421=) | |
1 | g.68429840A>C | CA340741067 | RPE65 | c.1538T>G (p.Val513Gly) c.1262T>G (p.Val421Gly) | |
1 | g.68429840A>G | CA340741065 | RPE65 | c.1538T>C (p.Val513Ala) c.1262T>C (p.Val421Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68429840A>T | CA340741063 | RPE65 | c.1538T>A (p.Val513Asp) c.1262T>A (p.Val421Asp) | |
1 | g.68429841C>A | CA340741069 | RPE65 | c.1537G>T (p.Val513Phe) c.1261G>T (p.Val421Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68429841C= | CA1173557434 | RPE65 | c.1537G= (p.Val513=) c.1261G= (p.Val421=) | |
1 | g.68429841C>G | CA340741071 | RPE65 | c.1537G>C (p.Val513Leu) c.1261G>C (p.Val421Leu) | |
1 | g.68429841C>T | CA340741073 | RPE65 | c.1537G>A (p.Val513Ile) c.1261G>A (p.Val421Ile) | |
1 | g.68429842T>A | CA340741076 | RPE65 | c.1536A>T (p.Glu512Asp) c.1260A>T (p.Glu420Asp) | |
1 | g.68429842T>C | CA418276167 | RPE65 | c.1536A>G (p.Glu512=) c.1260A>G (p.Glu420=) | |
1 | g.68429842T>G | CA340741078 | RPE65 | c.1536A>C (p.Glu512Asp) c.1260A>C (p.Glu420Asp) | |
1 | g.68429843T>A | CA340741080 | RPE65 | c.1535A>T (p.Glu512Val) c.1259A>T (p.Glu420Val) | |
1 | g.68429843T>C | CA340741082 | RPE65 | c.1535A>G (p.Glu512Gly) c.1259A>G (p.Glu420Gly) | gnomAD v4 |
1 | g.68429843T>G | CA340741083 | RPE65 | c.1535A>C (p.Glu512Ala) c.1259A>C (p.Glu420Ala) | |
1 | g.68429844C>A | CA340741086 | RPE65 | c.1534G>T (p.Glu512Ter) c.1258G>T (p.Glu420Ter) | COSMIC |
1 | g.68429844C= | CA1173557435 | RPE65 | c.1534G= (p.Glu512=) c.1258G= (p.Glu420=) | |
1 | g.68429844C>G | CA340741087 | RPE65 | c.1534G>C (p.Glu512Gln) c.1258G>C (p.Glu420Gln) | |
1 | g.68429844C>T | CA902135 | RPE65 | c.1534G>A (p.Glu512Lys) c.1258G>A (p.Glu420Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429845A= | CA1143167365 | RPE65 | c.1533T= (p.Ser511=) c.1257T= (p.Ser419=) | |
1 | g.68429845A>C | CA902136 | RPE65 | c.1533T>G (p.Ser511Arg) c.1257T>G (p.Ser419Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429845A>G | CA418276175 | RPE65 | c.1533T>C (p.Ser511=) c.1257T>C (p.Ser419=) | |
1 | g.68429845A>T | CA340741091 | RPE65 | c.1533T>A (p.Ser511Arg) c.1257T>A (p.Ser419Arg) | |
1 | g.68429846C>A | CA340741095 | RPE65 | c.1532G>T (p.Ser511Ile) c.1256G>T (p.Ser419Ile) | |
1 | g.68429846C= | CA1173557436 | RPE65 | c.1532G= (p.Ser511=) c.1256G= (p.Ser419=) | |
1 | g.68429846C>G | CA340741097 | RPE65 | c.1532G>C (p.Ser511Thr) c.1256G>C (p.Ser419Thr) | dbSNP gnomAD v4 |
1 | g.68429846C>T | CA340741093 | RPE65 | c.1532G>A (p.Ser511Asn) c.1256G>A (p.Ser419Asn) | ClinVar dbSNP |
1 | g.68429847T>A | CA340741103 | RPE65 | c.1531A>T (p.Ser511Cys) c.1255A>T (p.Ser419Cys) | |
1 | g.68429847T>C | CA340741099 | RPE65 | c.1531A>G (p.Ser511Gly) c.1255A>G (p.Ser419Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429847T>G | CA340741100 | RPE65 | c.1531A>C (p.Ser511Arg) c.1255A>C (p.Ser419Arg) | |
1 | g.68429847T= | CA1173557437 | RPE65 | c.1531A= (p.Ser511=) c.1255A= (p.Ser419=) | |
1 | g.68429848T>A | CA340741105 | RPE65 | c.1530A>T (p.Leu510Phe) c.1254A>T (p.Leu418Phe) | |
1 | g.68429848T>C | CA418276183 | RPE65 | c.1530A>G (p.Leu510=) c.1254A>G (p.Leu418=) | |
1 | g.68429848T>G | CA340741106 | RPE65 | c.1530A>C (p.Leu510Phe) c.1254A>C (p.Leu418Phe) | |
1 | g.68429849A= | CA1173557438 | RPE65 | c.1529T= (p.Leu510=) c.1253T= (p.Leu418=) | |
1 | g.68429849A>C | CA340741109 | RPE65 | c.1529T>G (p.Leu510Ter) c.1253T>G (p.Leu418Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429849A>G | CA340741110 | RPE65 | c.1529T>C (p.Leu510Ser) c.1253T>C (p.Leu418Ser) | |
1 | g.68429849A>T | CA340741112 | RPE65 | c.1529T>A (p.Leu510Ter) c.1253T>A (p.Leu418Ter) | |
1 | g.68429850A= | CA1173557439 | RPE65 | c.1528T= (p.Leu510=) c.1252T= (p.Leu418=) | |
1 | g.68429850A>C | CA340741114 | RPE65 | c.1528T>G (p.Leu510Val) c.1252T>G (p.Leu418Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429850A>G | CA418276189 | RPE65 | c.1528T>C (p.Leu510=) c.1252T>C (p.Leu418=) | ClinVar |
1 | g.68429850A>T | CA340741115 | RPE65 | c.1528T>A (p.Leu510Ile) c.1252T>A (p.Leu418Ile) | |
1 | g.68429851G>A | CA418276192 | RPE65 | c.1527C>T (p.Asp509=) c.1251C>T (p.Asp417=) | |
1 | g.68429851G>C | CA340741117 | RPE65 | c.1527C>G (p.Asp509Glu) c.1251C>G (p.Asp417Glu) | |
1 | g.68429851G>T | CA340741118 | RPE65 | c.1527C>A (p.Asp509Glu) c.1251C>A (p.Asp417Glu) | |
1 | g.68429852T>A | CA340741121 | RPE65 | c.1526A>T (p.Asp509Val) c.1250A>T (p.Asp417Val) | |
1 | g.68429852T>C | CA340741123 | RPE65 | c.1526A>G (p.Asp509Gly) c.1250A>G (p.Asp417Gly) | dbSNP |
1 | g.68429852T>G | CA340741124 | RPE65 | c.1526A>C (p.Asp509Ala) c.1250A>C (p.Asp417Ala) | |
1 | g.68429852T= | CA1173557440 | RPE65 | c.1526A= (p.Asp509=) c.1250A= (p.Asp417=) | |
1 | g.68429853C>A | CA340741130 | RPE65 | c.1525G>T (p.Asp509Tyr) c.1249G>T (p.Asp417Tyr) | |
1 | g.68429853C>G | CA340741127 | RPE65 | c.1525G>C (p.Asp509His) c.1249G>C (p.Asp417His) | |
1 | g.68429853C>T | CA340741129 | RPE65 | c.1525G>A (p.Asp509Asn) c.1249G>A (p.Asp417Asn) | ClinVar |
1 | g.68429854C>A | CA340741133 | RPE65 | c.1524G>T (p.Lys508Asn) c.1248G>T (p.Lys416Asn) | |
1 | g.68429854C= | CA1143656545 | RPE65 | c.1524G= (p.Lys508=) c.1248G= (p.Lys416=) | |
1 | g.68429854C>G | CA23562561 | RPE65 | c.1524G>C (p.Lys508Asn) c.1248G>C (p.Lys416Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429854C>T | CA902137 | RPE65 | c.1524G>A (p.Lys508=) c.1248G>A (p.Lys416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429855T>A | CA340741134 | RPE65 | c.1523A>T (p.Lys508Met) c.1247A>T (p.Lys416Met) | |
1 | g.68429855T>C | CA340741135 | RPE65 | c.1523A>G (p.Lys508Arg) c.1247A>G (p.Lys416Arg) | |
1 | g.68429855T>G | CA340741136 | RPE65 | c.1523A>C (p.Lys508Thr) c.1247A>C (p.Lys416Thr) | |
1 | g.68429856T>A | CA340741139 | RPE65 | c.1522A>T (p.Lys508Ter) c.1246A>T (p.Lys416Ter) | |
1 | g.68429856T>C | CA340741140 | RPE65 | c.1522A>G (p.Lys508Glu) c.1246A>G (p.Lys416Glu) | |
1 | g.68429856T>G | CA340741142 | RPE65 | c.1522A>C (p.Lys508Gln) c.1246A>C (p.Lys416Gln) | |
1 | g.68429857G>A | CA418276205 | RPE65 | c.1521C>T (p.Ala507=) c.1245C>T (p.Ala415=) | |
1 | g.68429857G>C | CA418276206 | RPE65 | c.1521C>G (p.Ala507=) c.1245C>G (p.Ala415=) | |
1 | g.68429857G>T | CA418276208 | RPE65 | c.1521C>A (p.Ala507=) c.1245C>A (p.Ala415=) | |
1 | g.68429858G>A | CA340741145 | RPE65 | c.1520C>T (p.Ala507Val) c.1244C>T (p.Ala415Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68429858G>C | CA23562570 | RPE65 | c.1520C>G (p.Ala507Gly) c.1244C>G (p.Ala415Gly) | dbSNP gnomAD v4 |
1 | g.68429858G= | CA1143483024 | RPE65 | c.1520C= (p.Ala507=) c.1244C= (p.Ala415=) | |
1 | g.68429858G>T | CA340741148 | RPE65 | c.1520C>A (p.Ala507Asp) c.1244C>A (p.Ala415Asp) | |
1 | g.68429859C>A | CA902138 | RPE65 | c.1519G>T (p.Ala507Ser) c.1243G>T (p.Ala415Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429859C= | CA1173557441 | RPE65 | c.1519G= (p.Ala507=) c.1243G= (p.Ala415=) | |
1 | g.68429859C>G | CA340741154 | RPE65 | c.1519G>C (p.Ala507Pro) c.1243G>C (p.Ala415Pro) | |
1 | g.68429859C>T | CA340741151 | RPE65 | c.1519G>A (p.Ala507Thr) c.1243G>A (p.Ala415Thr) | |
1 | g.68429860A>C | CA340741156 | RPE65 | c.1518T>G (p.Asn506Lys) c.1242T>G (p.Asn414Lys) | gnomAD v4 |
1 | g.68429860A>G | CA418276222 | RPE65 | c.1518T>C (p.Asn506=) c.1242T>C (p.Asn414=) | ClinVar dbSNP |
1 | g.68429860A>T | CA340741158 | RPE65 | c.1518T>A (p.Asn506Lys) c.1242T>A (p.Asn414Lys) | |
1 | g.68429861T>A | CA340741161 | RPE65 | c.1517A>T (p.Asn506Ile) c.1241A>T (p.Asn414Ile) | |
1 | g.68429861T>C | CA340741163 | RPE65 | c.1517A>G (p.Asn506Ser) c.1241A>G (p.Asn414Ser) | |
1 | g.68429861T>G | CA340741165 | RPE65 | c.1517A>C (p.Asn506Thr) c.1241A>C (p.Asn414Thr) | |
1 | g.68429862T>A | CA340741166 | RPE65 | c.1516A>T (p.Asn506Tyr) c.1240A>T (p.Asn414Tyr) | gnomAD v4 |
1 | g.68429862T>C | CA340741167 | RPE65 | c.1516A>G (p.Asn506Asp) c.1240A>G (p.Asn414Asp) | |
1 | g.68429862T>G | CA340741168 | RPE65 | c.1516A>C (p.Asn506His) c.1240A>C (p.Asn414His) | |
1 | g.68429863C>A | CA418276233 | RPE65 | c.1515G>T (p.Leu505=) c.1239G>T (p.Leu413=) | |
1 | g.68429863C>G | CA418276235 | RPE65 | c.1515G>C (p.Leu505=) c.1239G>C (p.Leu413=) | |
1 | g.68429863C>T | CA418276239 | RPE65 | c.1515G>A (p.Leu505=) c.1239G>A (p.Leu413=) | ClinVar dbSNP |
1 | g.68429864A= | CA1173557442 | RPE65 | c.1514T= (p.Leu505=) c.1238T= (p.Leu413=) | |
1 | g.68429864A>C | CA23562585 | RPE65 | c.1514T>G (p.Leu505Arg) c.1238T>G (p.Leu413Arg) | dbSNP gnomAD v4 |
1 | g.68429864A>G | CA340741171 | RPE65 | c.1514T>C (p.Leu505Pro) c.1238T>C (p.Leu413Pro) | gnomAD v4 |
1 | g.68429864A>T | CA340741174 | RPE65 | c.1514T>A (p.Leu505Gln) c.1238T>A (p.Leu413Gln) | |
1 | g.68429865G>A | CA418276248 | RPE65 | c.1513C>T (p.Leu505=) c.1237C>T (p.Leu413=) | ClinVar |
1 | g.68429865G>C | CA340741176 | RPE65 | c.1513C>G (p.Leu505Val) c.1237C>G (p.Leu413Val) | |
1 | g.68429865G>T | CA340741178 | RPE65 | c.1513C>A (p.Leu505Met) c.1237C>A (p.Leu413Met) | |
1 | g.68429866A>C | CA340741179 | RPE65 | c.1512T>G (p.Ile504Met) c.1236T>G (p.Ile412Met) | |
1 | g.68429866A>G | CA418276255 | RPE65 | c.1512T>C (p.Ile504=) c.1236T>C (p.Ile412=) | |
1 | g.68429866A>T | CA418276258 | RPE65 | c.1512T>A (p.Ile504=) c.1236T>A (p.Ile412=) | |
1 | g.68429867A>C | CA340741181 | RPE65 | c.1511T>G (p.Ile504Ser) c.1235T>G (p.Ile412Ser) | |
1 | g.68429867A>G | CA340741184 | RPE65 | c.1511T>C (p.Ile504Thr) c.1235T>C (p.Ile412Thr) | |
1 | g.68429867A>T | CA340741187 | RPE65 | c.1511T>A (p.Ile504Asn) c.1235T>A (p.Ile412Asn) | |
1 | g.68429868T>A | CA340741190 | RPE65 | c.1510A>T (p.Ile504Phe) c.1234A>T (p.Ile412Phe) | |
1 | g.68429868T>C | CA340741192 | RPE65 | c.1510A>G (p.Ile504Val) c.1234A>G (p.Ile412Val) | |
1 | g.68429868T>G | CA340741194 | RPE65 | c.1510A>C (p.Ile504Leu) c.1234A>C (p.Ile412Leu) | |
1 | g.68429869C>A | CA418276271 | RPE65 | c.1509G>T (p.Leu503=) c.1233G>T (p.Leu411=) | |
1 | g.68429869C= | CA1173557443 | RPE65 | c.1509G= (p.Leu503=) c.1233G= (p.Leu411=) | |
1 | g.68429869C>G | CA418276274 | RPE65 | c.1509G>C (p.Leu503=) c.1233G>C (p.Leu411=) | |
1 | g.68429869C>T | CA902139 | RPE65 | c.1509G>A (p.Leu503=) c.1233G>A (p.Leu411=) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.68429870A>C | CA340741199 | RPE65 | c.1508T>G (p.Leu503Arg) c.1232T>G (p.Leu411Arg) | |
1 | g.68429870A>G | CA340741202 | RPE65 | c.1508T>C (p.Leu503Pro) c.1232T>C (p.Leu411Pro) | |
1 | g.68429870A>T | CA340741204 | RPE65 | c.1508T>A (p.Leu503Gln) c.1232T>A (p.Leu411Gln) | |
1 | g.68429871G>A | CA418276284 | RPE65 | c.1507C>T (p.Leu503=) c.1231C>T (p.Leu411=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429871G>C | CA340741206 | RPE65 | c.1507C>G (p.Leu503Val) c.1231C>G (p.Leu411Val) | |
1 | g.68429871G= | CA1173557444 | RPE65 | c.1507C= (p.Leu503=) c.1231C= (p.Leu411=) | |
1 | g.68429871G>T | CA340741208 | RPE65 | c.1507C>A (p.Leu503Met) c.1231C>A (p.Leu411Met) | |
1 | g.68429872G>A | CA418276291 | RPE65 | c.1506C>T (p.Leu502=) c.1230C>T (p.Leu410=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.68429872G>C | CA418276293 | RPE65 | c.1506C>G (p.Leu502=) c.1230C>G (p.Leu410=) | gnomAD v4 |
1 | g.68429872G= | CA1173557445 | RPE65 | c.1506C= (p.Leu502=) c.1230C= (p.Leu410=) | |
1 | g.68429872G>T | CA418276294 | RPE65 | c.1506C>A (p.Leu502=) c.1230C>A (p.Leu410=) | |
1 | g.68429873A>C | CA340741213 | RPE65 | c.1505T>G (p.Leu502Arg) c.1229T>G (p.Leu410Arg) | |
1 | g.68429873A>G | CA340741216 | RPE65 | c.1505T>C (p.Leu502Pro) c.1229T>C (p.Leu410Pro) | |
1 | g.68429873A>T | CA340741211 | RPE65 | c.1505T>A (p.Leu502His) c.1229T>A (p.Leu410His) | |
1 | g.68429875_68429879del | CA2573132570 | RPE65 | c.1501_1505del (p.Tyr501ProfsTer10) c.1225_1229del (p.Tyr409ProfsTer10) | ClinVar dbSNP |
1 | g.68429874G>A | CA340741222 | RPE65 | c.1504C>T (p.Leu502Phe) c.1228C>T (p.Leu410Phe) | gnomAD v4 |
1 | g.68429874G>C | CA340741218 | RPE65 | c.1504C>G (p.Leu502Val) c.1228C>G (p.Leu410Val) | |
1 | g.68429874G>T | CA340741220 | RPE65 | c.1504C>A (p.Leu502Ile) c.1228C>A (p.Leu410Ile) | |
1 | g.68429875A>C | CA340741225 | RPE65 | c.1503T>G (p.Tyr501Ter) c.1227T>G (p.Tyr409Ter) | |
1 | g.68429875A>G | CA418276308 | RPE65 | c.1503T>C (p.Tyr501=) c.1227T>C (p.Tyr409=) | |
1 | g.68429875A>T | CA340741228 | RPE65 | c.1503T>A (p.Tyr501Ter) c.1227T>A (p.Tyr409Ter) | ClinVar |
1 | g.68429876T>A | CA340741230 | RPE65 | c.1502A>T (p.Tyr501Phe) c.1226A>T (p.Tyr409Phe) | |
1 | g.68429876T>C | CA340741233 | RPE65 | c.1502A>G (p.Tyr501Cys) c.1226A>G (p.Tyr409Cys) | gnomAD v4 |
1 | g.68429876T>G | CA340741236 | RPE65 | c.1502A>C (p.Tyr501Ser) c.1226A>C (p.Tyr409Ser) | |
1 | g.68429877A>C | CA340741240 | RPE65 | c.1501T>G (p.Tyr501Asp) c.1225T>G (p.Tyr409Asp) | |
1 | g.68429877A>G | CA340741242 | RPE65 | c.1501T>C (p.Tyr501His) c.1225T>C (p.Tyr409His) | |
1 | g.68429877A>T | CA340741245 | RPE65 | c.1501T>A (p.Tyr501Asn) c.1225T>A (p.Tyr409Asn) | |
1 | g.68429877_68429878insT | CA645525123 | RPE65 | c.1500_1501insA (p.Tyr501IlefsTer12) c.1224_1225insA (p.Tyr409IlefsTer12) | COSMIC |
1 | g.68429878A>C | CA418276328 | RPE65 | c.1500T>G (p.Ala500=) c.1224T>G (p.Ala408=) | |
1 | g.68429878A>G | CA418276325 | RPE65 | c.1500T>C (p.Ala500=) c.1224T>C (p.Ala408=) | |
1 | g.68429878A>T | CA418276323 | RPE65 | c.1500T>A (p.Ala500=) c.1224T>A (p.Ala408=) | |
1 | g.68429879G>A | CA340741248 | RPE65 | c.1499C>T (p.Ala500Val) c.1223C>T (p.Ala408Val) | |
1 | g.68429879G>C | CA340741251 | RPE65 | c.1499C>G (p.Ala500Gly) c.1223C>G (p.Ala408Gly) | gnomAD v4 |
1 | g.68429879G>T | CA340741254 | RPE65 | c.1499C>A (p.Ala500Asp) c.1223C>A (p.Ala408Asp) | |
1 | g.68429880C>A | CA340741262 | RPE65 | c.1498G>T (p.Ala500Ser) c.1222G>T (p.Ala408Ser) | dbSNP |
1 | g.68429880C= | CA1173557446 | RPE65 | c.1498G= (p.Ala500=) c.1222G= (p.Ala408=) | |
1 | g.68429880C>G | CA340741267 | RPE65 | c.1498G>C (p.Ala500Pro) c.1222G>C (p.Ala408Pro) | |
1 | g.68429880C>T | CA340741264 | RPE65 | c.1498G>A (p.Ala500Thr) c.1222G>A (p.Ala408Thr) | |
1 | g.68429881A>C | CA418276342 | RPE65 | c.1497T>G (p.Pro499=) c.1221T>G (p.Pro407=) | |
1 | g.68429881A>G | CA418276347 | RPE65 | c.1497T>C (p.Pro499=) c.1221T>C (p.Pro407=) | |
1 | g.68429881A>T | CA418276345 | RPE65 | c.1497T>A (p.Pro499=) c.1221T>A (p.Pro407=) | |
1 | g.68429882G>A | CA340741271 | RPE65 | c.1496C>T (p.Pro499Leu) c.1220C>T (p.Pro407Leu) | ClinVar dbSNP |
1 | g.68429882G>C | CA340741272 | RPE65 | c.1496C>G (p.Pro499Arg) c.1220C>G (p.Pro407Arg) | |
1 | g.68429882G= | CA1173557447 | RPE65 | c.1496C= (p.Pro499=) c.1220C= (p.Pro407=) | |
1 | g.68429882G>T | CA340741277 | RPE65 | c.1496C>A (p.Pro499His) c.1220C>A (p.Pro407His) | |
1 | g.68429883G>A | CA340741281 | RPE65 | c.1495C>T (p.Pro499Ser) c.1219C>T (p.Pro407Ser) | COSMIC |
1 | g.68429883G>C | CA340741282 | RPE65 | c.1495C>G (p.Pro499Ala) c.1219C>G (p.Pro407Ala) | |
1 | g.68429883G>T | CA340741286 | RPE65 | c.1495C>A (p.Pro499Thr) c.1219C>A (p.Pro407Thr) | COSMIC |
1 | g.68429884C>A | CA902140 | RPE65 | c.1494G>T (p.Lys498Asn) c.1218G>T (p.Lys406Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429884C= | CA1173557448 | RPE65 | c.1494G= (p.Lys498=) c.1218G= (p.Lys406=) | |
1 | g.68429884C>G | CA340741291 | RPE65 | c.1494G>C (p.Lys498Asn) c.1218G>C (p.Lys406Asn) | |
1 | g.68429884C>T | CA418276361 | RPE65 | c.1494G>A (p.Lys498=) c.1218G>A (p.Lys406=) | dbSNP gnomAD v4 |
1 | g.68429885T>A | CA340741295 | RPE65 | c.1493A>T (p.Lys498Met) c.1217A>T (p.Lys406Met) | |
1 | g.68429885T>C | CA340741298 | RPE65 | c.1493A>G (p.Lys498Arg) c.1217A>G (p.Lys406Arg) | |
1 | g.68429885T>G | CA340741300 | RPE65 | c.1493A>C (p.Lys498Thr) c.1217A>C (p.Lys406Thr) | gnomAD v4 |
1 | g.68429886T>A | CA340741309 | RPE65 | c.1492A>T (p.Lys498Ter) c.1216A>T (p.Lys406Ter) | |
1 | g.68429886T>C | CA340741311 | RPE65 | c.1492A>G (p.Lys498Glu) c.1216A>G (p.Lys406Glu) | |
1 | g.68429886T>G | CA340741306 | RPE65 | c.1492A>C (p.Lys498Gln) c.1216A>C (p.Lys406Gln) | |
1 | g.68429887T>A | CA902141 | RPE65 | c.1491A>T (p.Gln497His) c.1215A>T (p.Gln405His) | dbSNP ExAC gnomAD v2 |
1 | g.68429887T>C | CA418276375 | RPE65 | c.1491A>G (p.Gln497=) c.1215A>G (p.Gln405=) | ClinVar dbSNP |
1 | g.68429887T>G | CA23562597 | RPE65 | c.1491A>C (p.Gln497His) c.1215A>C (p.Gln405His) | dbSNP |
1 | g.68429887T= | CA1173557449 | RPE65 | c.1491A= (p.Gln497=) c.1215A= (p.Gln405=) | |
1 | g.68429888T>A | CA340741319 | RPE65 | c.1490A>T (p.Gln497Leu) c.1214A>T (p.Gln405Leu) | |
1 | g.68429888T>C | CA23562609 | RPE65 | c.1490A>G (p.Gln497Arg) c.1214A>G (p.Gln405Arg) | dbSNP gnomAD v4 |
1 | g.68429888T>G | CA340741321 | RPE65 | c.1490A>C (p.Gln497Pro) c.1214A>C (p.Gln405Pro) | |
1 | g.68429888T= | CA1148229420 | RPE65 | c.1490A= (p.Gln497=) c.1214A= (p.Gln405=) | |
1 | g.68429889G>A | CA340741329 | RPE65 | c.1489C>T (p.Gln497Ter) c.1213C>T (p.Gln405Ter) | |
1 | g.68429889G>C | CA340741326 | RPE65 | c.1489C>G (p.Gln497Glu) c.1213C>G (p.Gln405Glu) | |
1 | g.68429889G>T | CA340741324 | RPE65 | c.1489C>A (p.Gln497Lys) c.1213C>A (p.Gln405Lys) | COSMIC |
1 | g.68429890T>A | CA418276390 | RPE65 | c.1488A>T (p.Gly496=) c.1212A>T (p.Gly404=) | |
1 | g.68429890T>C | CA418276392 | RPE65 | c.1488A>G (p.Gly496=) c.1212A>G (p.Gly404=) | gnomAD v4 |
1 | g.68429890T>G | CA418276394 | RPE65 | c.1488A>C (p.Gly496=) c.1212A>C (p.Gly404=) | |
1 | g.68429891C>A | CA340741332 | RPE65 | c.1487G>T (p.Gly496Val) c.1211G>T (p.Gly404Val) | |
1 | g.68429891C>G | CA340741334 | RPE65 | c.1487G>C (p.Gly496Ala) c.1211G>C (p.Gly404Ala) | |
1 | g.68429891C>T | CA340741337 | RPE65 | c.1487G>A (p.Gly496Glu) c.1211G>A (p.Gly404Glu) | |
1 | g.68429892C>A | CA340741340 | RPE65 | c.1486G>T (p.Gly496Ter) c.1210G>T (p.Gly404Ter) | |
1 | g.68429892C= | CA1173557450 | RPE65 | c.1486G= (p.Gly496=) c.1210G= (p.Gly404=) | |
1 | g.68429892C>G | CA340741342 | RPE65 | c.1486G>C (p.Gly496Arg) c.1210G>C (p.Gly404Arg) | |
1 | g.68429892C>T | CA340741343 | RPE65 | c.1486G>A (p.Gly496Arg) c.1210G>A (p.Gly404Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.68429893T>A | CA418276406 | RPE65 | c.1485A>T (p.Ala495=) c.1209A>T (p.Ala403=) | |
1 | g.68429893T>C | CA418276408 | RPE65 | c.1485A>G (p.Ala495=) c.1209A>G (p.Ala403=) | |
1 | g.68429893T>G | CA902142 | RPE65 | c.1485A>C (p.Ala495=) c.1209A>C (p.Ala403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429893T= | CA1173557451 | RPE65 | c.1485A= (p.Ala495=) c.1209A= (p.Ala403=) | |
1 | g.68429893_68429894insTTTTTAAT | CA2538594875 | RPE65 | c.1485_1486insTTAAAAAA (p.Gly496LeufsTer11) c.1209_1210insTTAAAAAA (p.Gly404LeufsTer11) | |
1 | g.68429894G>A | CA340741347 | RPE65 | c.1484C>T (p.Ala495Val) c.1208C>T (p.Ala403Val) | |
1 | g.68429894G>C | CA340741351 | RPE65 | c.1484C>G (p.Ala495Gly) c.1208C>G (p.Ala403Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429894G= | CA1173557452 | RPE65 | c.1484C= (p.Ala495=) c.1208C= (p.Ala403=) | |
1 | g.68429894G>T | CA340741349 | RPE65 | c.1484C>A (p.Ala495Glu) c.1208C>A (p.Ala403Glu) | ClinVar gnomAD v3 gnomAD v4 |
1 | g.68429895C>A | CA340741353 | RPE65 | c.1483G>T (p.Ala495Ser) c.1207G>T (p.Ala403Ser) | |
1 | g.68429895C= | CA1173557453 | RPE65 | c.1483G= (p.Ala495=) c.1207G= (p.Ala403=) | |
1 | g.68429895C>G | CA340741356 | RPE65 | c.1483G>C (p.Ala495Pro) c.1207G>C (p.Ala403Pro) | |
1 | g.68429895C>T | CA340741362 | RPE65 | c.1483G>A (p.Ala495Thr) c.1207G>A (p.Ala403Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429896T>A | CA418276412 | RPE65 | c.1482A>T (p.Gly494=) c.1206A>T (p.Gly402=) | |
1 | g.68429896T>C | CA418276413 | RPE65 | c.1482A>G (p.Gly494=) c.1206A>G (p.Gly402=) | |
1 | g.68429896T>G | CA418276416 | RPE65 | c.1482A>C (p.Gly494=) c.1206A>C (p.Gly402=) | |
1 | g.68429897C>A | CA340741364 | RPE65 | c.1481G>T (p.Gly494Val) c.1205G>T (p.Gly402Val) | |
1 | g.68429897C= | CA1173557454 | RPE65 | c.1481G= (p.Gly494=) c.1205G= (p.Gly402=) | |
1 | g.68429897C>G | CA340741367 | RPE65 | c.1481G>C (p.Gly494Ala) c.1205G>C (p.Gly402Ala) | dbSNP |
1 | g.68429897C>T | CA340741370 | RPE65 | c.1481G>A (p.Gly494Glu) c.1205G>A (p.Gly402Glu) | dbSNP gnomAD v4 |
1 | g.68429898C>A | CA340741375 | RPE65 | c.1480G>T (p.Gly494Ter) c.1204G>T (p.Gly402Ter) | |
1 | g.68429898C>G | CA340741377 | RPE65 | c.1480G>C (p.Gly494Arg) c.1204G>C (p.Gly402Arg) | |
1 | g.68429898C>T | CA340741379 | RPE65 | c.1480G>A (p.Gly494Arg) c.1204G>A (p.Gly402Arg) | |
1 | g.68429899T>A | CA418276438 | RPE65 | c.1479A>T (p.Pro493=) c.1203A>T (p.Pro401=) | |
1 | g.68429899T>C | CA902143 | RPE65 | c.1479A>G (p.Pro493=) c.1203A>G (p.Pro401=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429899T>G | CA418276444 | RPE65 | c.1479A>C (p.Pro493=) c.1203A>C (p.Pro401=) | |
1 | g.68429899T= | CA1173557455 | RPE65 | c.1479A= (p.Pro493=) c.1203A= (p.Pro401=) | |
1 | g.68429899_68429900del | CA2519785152 | RPE65 | c.1478_1479del (p.Pro493ArgfsTer19) c.1202_1203del (p.Pro401ArgfsTer19) | |
1 | g.68429900G>A | CA340741384 | RPE65 | c.1478C>T (p.Pro493Leu) c.1202C>T (p.Pro401Leu) | COSMIC |
1 | g.68429900G>C | CA340741385 | RPE65 | c.1478C>G (p.Pro493Arg) c.1202C>G (p.Pro401Arg) | |
1 | g.68429900G>T | CA340741386 | RPE65 | c.1478C>A (p.Pro493Gln) c.1202C>A (p.Pro401Gln) | |
1 | g.68429902dup | CA1173557456 | RPE65 | c.1478dup (p.Gly494ArgfsTer19) c.1202dup (p.Gly402ArgfsTer19) | dbSNP |
1 | g.68429902del | CA2646149703 | RPE65 | c.1478del (p.Pro493GlnfsTer11) c.1202del (p.Pro401GlnfsTer11) | gnomAD v4 |
1 | g.68429901G>A | CA340741389 | RPE65 | c.1477C>T (p.Pro493Ser) c.1201C>T (p.Pro401Ser) | dbSNP gnomAD v4 |
1 | g.68429901G>C | CA340741392 | RPE65 | c.1477C>G (p.Pro493Ala) c.1201C>G (p.Pro401Ala) | |
1 | g.68429901G= | CA1173557457 | RPE65 | c.1477C= (p.Pro493=) c.1201C= (p.Pro401=) | |
1 | g.68429901G>T | CA340741387 | RPE65 | c.1477C>A (p.Pro493Thr) c.1201C>A (p.Pro401Thr) | |
1 | g.68429902G>A | CA902144 | RPE65 | c.1476C>T (p.Ser492=) c.1200C>T (p.Ser400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429902G>C | CA340741396 | RPE65 | c.1476C>G (p.Ser492Arg) c.1200C>G (p.Ser400Arg) | |
1 | g.68429902G= | CA1173557458 | RPE65 | c.1476C= (p.Ser492=) c.1200C= (p.Ser400=) | |
1 | g.68429902G>T | CA340741399 | RPE65 | c.1476C>A (p.Ser492Arg) c.1200C>A (p.Ser400Arg) | gnomAD v4 COSMIC |
1 | g.68429903C>A | CA340741402 | RPE65 | c.1475G>T (p.Ser492Ile) c.1199G>T (p.Ser400Ile) | |
1 | g.68429903C= | CA1173557459 | RPE65 | c.1475G= (p.Ser492=) c.1199G= (p.Ser400=) | |
1 | g.68429903C>G | CA340741406 | RPE65 | c.1475G>C (p.Ser492Thr) c.1199G>C (p.Ser400Thr) | |
1 | g.68429903C>T | CA340741404 | RPE65 | c.1475G>A (p.Ser492Asn) c.1199G>A (p.Ser400Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68429904del | CA2544569266 | RPE65 | c.1474del (p.Ser492AlafsTer12) c.1198del (p.Ser400AlafsTer12) | |
1 | g.68429904T>A | CA340741409 | RPE65 | c.1474A>T (p.Ser492Cys) c.1198A>T (p.Ser400Cys) | |
1 | g.68429904T>C | CA340741412 | RPE65 | c.1474A>G (p.Ser492Gly) c.1198A>G (p.Ser400Gly) | |
1 | g.68429904T>G | CA340741415 | RPE65 | c.1474A>C (p.Ser492Arg) c.1198A>C (p.Ser400Arg) | |
1 | g.68429905C>A | CA418276470 | RPE65 | c.1473G>T (p.Val491=) c.1197G>T (p.Val399=) | |
1 | g.68429905C= | CA1148880754 | RPE65 | c.1473G= (p.Val491=) c.1197G= (p.Val399=) | |
1 | g.68429905C>G | CA902145 | RPE65 | c.1473G>C (p.Val491=) c.1197G>C (p.Val399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68429905C>T | CA23562628 | RPE65 | c.1473G>A (p.Val491=) c.1197G>A (p.Val399=) | ClinVar dbSNP |
1 | g.68429906A= | CA1173557460 | RPE65 | c.1472T= (p.Val491=) c.1196T= (p.Val399=) | |
1 | g.68429906A>C | CA340741421 | RPE65 | c.1472T>G (p.Val491Gly) c.1196T>G (p.Val399Gly) | |
1 | g.68429906A>G | CA902146 | RPE65 | c.1472T>C (p.Val491Ala) c.1196T>C (p.Val399Ala) | dbSNP ExAC gnomAD v2 |
1 | g.68429906A>T | CA340741425 | RPE65 | c.1472T>A (p.Val491Glu) c.1196T>A (p.Val399Glu) | |
1 | g.68429907C>A | CA902147 | RPE65 | c.1471G>T (p.Val491Leu) c.1195G>T (p.Val399Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.68429907C= | CA1173557461 | RPE65 | c.1471G= (p.Val491=) c.1195G= (p.Val399=) | |
1 | g.68429907C>G | CA340741429 | RPE65 | c.1471G>C (p.Val491Leu) c.1195G>C (p.Val399Leu) | |
1 | g.68429907C>T | CA340741432 | RPE65 | c.1471G>A (p.Val491Met) c.1195G>A (p.Val399Met) | gnomAD v4 |
1 | g.68429908C>A | CA418276488 | RPE65 | c.1470G>T (p.Val490=) c.1194G>T (p.Val398=) | |
1 | g.68429908C>G | CA418276493 | RPE65 | c.1470G>C (p.Val490=) c.1194G>C (p.Val398=) | gnomAD v4 |
1 | g.68429908C>T | CA418276490 | RPE65 | c.1470G>A (p.Val490=) c.1194G>A (p.Val398=) | |
1 | g.68429909A>C | CA340741438 | RPE65 | c.1469T>G (p.Val490Gly) c.1193T>G (p.Val398Gly) | |
1 | g.68429909A>G | CA340741437 | RPE65 | c.1469T>C (p.Val490Ala) c.1193T>C (p.Val398Ala) | |
1 | g.68429909A>T | CA340741435 | RPE65 | c.1469T>A (p.Val490Glu) c.1193T>A (p.Val398Glu) |