| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.68429910C>A | CA340741441 | RPE65 | c.1468G>T (p.Val490Leu) c.1192G>T (p.Val398Leu) | |
| 1 | g.68429910C= | CA1148250251 | RPE65 | c.1468G= (p.Val490=) c.1192G= (p.Val398=) | |
| 1 | g.68429910C>G | CA340741443 | RPE65 | c.1468G>C (p.Val490Leu) c.1192G>C (p.Val398Leu) | |
| 1 | g.68429910C>T | CA902148 | RPE65 | c.1468G>A (p.Val490Met) c.1192G>A (p.Val398Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.68429911C>A | CA418276512 | RPE65 | c.1467G>T (p.Val489=) c.1191G>T (p.Val397=) | |
| 1 | g.68429911C>G | CA418276514 | RPE65 | c.1467G>C (p.Val489=) c.1191G>C (p.Val397=) | |
| 1 | g.68429911C>T | CA418276517 | RPE65 | c.1467G>A (p.Val489=) c.1191G>A (p.Val397=) | |
| 1 | g.68429912A>C | CA340741447 | RPE65 | c.1466T>G (p.Val489Gly) c.1190T>G (p.Val397Gly) | |
| 1 | g.68429912A>G | CA340741449 | RPE65 | c.1466T>C (p.Val489Ala) c.1190T>C (p.Val397Ala) | |
| 1 | g.68429912A>T | CA340741451 | RPE65 | c.1466T>A (p.Val489Glu) c.1190T>A (p.Val397Glu) | |
| 1 | g.68429912_68429916del | CA2533791451 | RPE65 | c.1462_1466del (p.Ser488GlyfsTer23) c.1186_1190del (p.Ser396GlyfsTer23) | |
| 1 | g.68429913C>A | CA340741455 | RPE65 | c.1465G>T (p.Val489Leu) c.1189G>T (p.Val397Leu) | gnomAD v4 |
| 1 | g.68429913C= | CA1143867006 | RPE65 | c.1465G= (p.Val489=) c.1189G= (p.Val397=) | |
| 1 | g.68429913C>G | CA340741456 | RPE65 | c.1465G>C (p.Val489Leu) c.1189G>C (p.Val397Leu) | |
| 1 | g.68429913C>T | CA23562640 | RPE65 | c.1465G>A (p.Val489Met) c.1189G>A (p.Val397Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429913_68429914insCCCCAAACACACCCA | CA2744008985 | RPE65 | c.1464_1465insTGGGTGTGTTTGGGG (p.Ser488_Val489insTrpValCysLeuGly) c.1188_1189insTGGGTGTGTTTGGGG (p.Ser396_Val397insTrpValCysLeuGly) | |
| 1 | g.68429914A= | CA1173557462 | RPE65 | c.1464T= (p.Ser488=) c.1188T= (p.Ser396=) | |
| 1 | g.68429914A>C | CA340741459 | RPE65 | c.1464T>G (p.Ser488Arg) c.1188T>G (p.Ser396Arg) | |
| 1 | g.68429914A>G | CA418276535 | RPE65 | c.1464T>C (p.Ser488=) c.1188T>C (p.Ser396=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429914A>T | CA902149 | RPE65 | c.1464T>A (p.Ser488Arg) c.1188T>A (p.Ser396Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429914_68429915insACCAAACACACCCAA | CA2744008984 | RPE65 | c.1464_1465insTGGGTGTGTTTGGTT (p.Ser488_Val489insTrpValCysLeuVal) c.1188_1189insTGGGTGTGTTTGGTT (p.Ser396_Val397insTrpValCysLeuVal) | |
| 1 | g.68429915C>A | CA340741472 | RPE65 | c.1463G>T (p.Ser488Ile) c.1187G>T (p.Ser396Ile) | |
| 1 | g.68429915C>G | CA340741467 | RPE65 | c.1463G>C (p.Ser488Thr) c.1187G>C (p.Ser396Thr) | |
| 1 | g.68429915C>T | CA340741464 | RPE65 | c.1463G>A (p.Ser488Asn) c.1187G>A (p.Ser396Asn) | |
| 1 | g.68429916T>A | CA340741475 | RPE65 | c.1462A>T (p.Ser488Cys) c.1186A>T (p.Ser396Cys) | |
| 1 | g.68429916T>C | CA340741479 | RPE65 | c.1462A>G (p.Ser488Gly) c.1186A>G (p.Ser396Gly) | |
| 1 | g.68429916T>G | CA340741482 | RPE65 | c.1462A>C (p.Ser488Arg) c.1186A>C (p.Ser396Arg) | |
| 1 | g.68429917C>A | CA418276544 | RPE65 | c.1461G>T (p.Leu487=) c.1185G>T (p.Leu395=) | |
| 1 | g.68429917C>G | CA418276546 | RPE65 | c.1461G>C (p.Leu487=) c.1185G>C (p.Leu395=) | ClinVar |
| 1 | g.68429917C>T | CA418276549 | RPE65 | c.1461G>A (p.Leu487=) c.1185G>A (p.Leu395=) | gnomAD v4 |
| 1 | g.68429918A>C | CA340741484 | RPE65 | c.1460T>G (p.Leu487Arg) c.1184T>G (p.Leu395Arg) | |
| 1 | g.68429918A>G | CA340741486 | RPE65 | c.1460T>C (p.Leu487Pro) c.1184T>C (p.Leu395Pro) | |
| 1 | g.68429918A>T | CA340741489 | RPE65 | c.1460T>A (p.Leu487Gln) c.1184T>A (p.Leu395Gln) | |
| 1 | g.68429919_68429920del | CA2580612188 | RPE65 | c.1459_1460del (p.Leu487GlufsTer25) c.1183_1184del (p.Leu395GlufsTer25) | |
| 1 | g.68429919del | CA2580063202 | RPE65 | c.1459del (p.Leu487Ter) c.1183del (p.Leu395Ter) | ClinVar |
| 1 | g.68429919G>A | CA418276559 | RPE65 | c.1459C>T (p.Leu487=) c.1183C>T (p.Leu395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429919G>C | CA340741492 | RPE65 | c.1459C>G (p.Leu487Val) c.1183C>G (p.Leu395Val) | |
| 1 | g.68429919G= | CA1173557463 | RPE65 | c.1459C= (p.Leu487=) c.1183C= (p.Leu395=) | |
| 1 | g.68429919G>T | CA340741495 | RPE65 | c.1459C>A (p.Leu487Met) c.1183C>A (p.Leu395Met) | |
| 1 | g.68429920A>C | CA418276565 | RPE65 | c.1458T>G (p.Val486=) c.1182T>G (p.Val394=) | |
| 1 | g.68429920A>G | CA418276567 | RPE65 | c.1458T>C (p.Val486=) c.1182T>C (p.Val394=) | |
| 1 | g.68429920A>T | CA418276569 | RPE65 | c.1458T>A (p.Val486=) c.1182T>A (p.Val394=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.68429921A>C | CA340741498 | RPE65 | c.1457T>G (p.Val486Gly) c.1181T>G (p.Val394Gly) | |
| 1 | g.68429921A>G | CA340741501 | RPE65 | c.1457T>C (p.Val486Ala) c.1181T>C (p.Val394Ala) | COSMIC |
| 1 | g.68429921A>T | CA340741504 | RPE65 | c.1457T>A (p.Val486Asp) c.1181T>A (p.Val394Asp) | |
| 1 | g.68429922C>A | CA340741519 | RPE65 | c.1456G>T (p.Val486Phe) c.1180G>T (p.Val394Phe) | ClinVar dbSNP |
| 1 | g.68429922C>G | CA340741516 | RPE65 | c.1456G>C (p.Val486Leu) c.1180G>C (p.Val394Leu) | |
| 1 | g.68429922C>T | CA340741513 | RPE65 | c.1456G>A (p.Val486Ile) c.1180G>A (p.Val394Ile) | ClinVar gnomAD v4 |
| 1 | g.68429923T>A | CA418276577 | RPE65 | c.1455A>T (p.Val485=) c.1179A>T (p.Val393=) | |
| 1 | g.68429923T>C | CA418276575 | RPE65 | c.1455A>G (p.Val485=) c.1179A>G (p.Val393=) | ClinVar |
| 1 | g.68429923T>G | CA418276576 | RPE65 | c.1455A>C (p.Val485=) c.1179A>C (p.Val393=) | |
| 1 | g.68429924A= | CA1173557464 | RPE65 | c.1454T= (p.Val485=) c.1178T= (p.Val393=) | |
| 1 | g.68429924A>C | CA340741522 | RPE65 | c.1454T>G (p.Val485Gly) c.1178T>G (p.Val393Gly) | |
| 1 | g.68429924A>G | CA340741524 | RPE65 | c.1454T>C (p.Val485Ala) c.1178T>C (p.Val393Ala) | ClinVar dbSNP |
| 1 | g.68429924A>T | CA340741531 | RPE65 | c.1454T>A (p.Val485Glu) c.1178T>A (p.Val393Glu) | |
| 1 | g.68429925C>A | CA340741532 | RPE65 | c.1453G>T (p.Val485Leu) c.1177G>T (p.Val393Leu) | |
| 1 | g.68429925C= | CA1173557465 | RPE65 | c.1453G= (p.Val485=) c.1177G= (p.Val393=) | |
| 1 | g.68429925C>G | CA340741533 | RPE65 | c.1453G>C (p.Val485Leu) c.1177G>C (p.Val393Leu) | |
| 1 | g.68429925C>T | CA340741534 | RPE65 | c.1453G>A (p.Val485Ile) c.1177G>A (p.Val393Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429926A= | CA1173557466 | RPE65 | c.1452T= (p.Gly484=) c.1176T= (p.Gly392=) | |
| 1 | g.68429926A>C | CA418276587 | RPE65 | c.1452T>G (p.Gly484=) c.1176T>G (p.Gly392=) | |
| 1 | g.68429926A>G | CA418276588 | RPE65 | c.1452T>C (p.Gly484=) c.1176T>C (p.Gly392=) | |
| 1 | g.68429926A>T | CA902150 | RPE65 | c.1452T>A (p.Gly484=) c.1176T>A (p.Gly392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429927C>A | CA902151 | RPE65 | c.1451G>T (p.Gly484Val) c.1175G>T (p.Gly392Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429927C= | CA1140763381 | RPE65 | c.1451G= (p.Gly484=) c.1175G= (p.Gly392=) | |
| 1 | g.68429927C>G | CA340741537 | RPE65 | c.1451G>C (p.Gly484Ala) c.1175G>C (p.Gly392Ala) | gnomAD v4 |
| 1 | g.68429927C>T | CA226517 | RPE65 | c.1451G>A (p.Gly484Asp) c.1175G>A (p.Gly392Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429928C>A | CA340741543 | RPE65 | c.1451-1G>T (n.1451-1G>T) c.1175-1G>T (n.1175-1G>T) | |
| 1 | g.68429928C= | CA1173557467 | RPE65 | c.1451-1G= (n.1451-1G=) c.1175-1G= (n.1175-1G=) | |
| 1 | g.68429928C>G | CA340741545 | RPE65 | c.1451-1G>C (n.1451-1G>C) c.1175-1G>C (n.1175-1G>C) | |
| 1 | g.68429928C>T | CA340741548 | RPE65 | c.1451-1G>A (n.1451-1G>A) c.1175-1G>A (n.1175-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429929del | CA2499214847 | RPE65 | c.1451-2del (n.1451-2del) c.1175-2del (n.1175-2del) | ClinVar dbSNP |
| 1 | g.68429929T>A | CA340741552 | RPE65 | c.1451-2A>T (n.1451-2A>T) c.1175-2A>T (n.1175-2A>T) | |
| 1 | g.68429929T>C | CA340741553 | RPE65 | c.1451-2A>G (n.1451-2A>G) c.1175-2A>G (n.1175-2A>G) | |
| 1 | g.68429929T>G | CA340741550 | RPE65 | c.1451-2A>C (n.1451-2A>C) c.1175-2A>C (n.1175-2A>C) | ClinVar dbSNP |
| 1 | g.68429929T= | CA1173557468 | RPE65 | c.1451-2A= (n.1451-2A=) c.1175-2A= (n.1175-2A=) | |
| 1 | g.68429929_68429930insA | CA2744008986 | RPE65 | c.1451-3_1451-2insT (n.1451-3_1451-2insT) c.1175-3_1175-2insT (n.1175-3_1175-2insT) | |
| 1 | g.68429930G>A | CA23562677 | RPE65 | c.1451-3C>T (n.1451-3C>T) c.1175-3C>T (n.1175-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429930G>C | CA2744008987 | RPE65 | c.1451-3C>G (n.1451-3C>G) c.1175-3C>G (n.1175-3C>G) | |
| 1 | g.68429930G= | CA1143765214 | RPE65 | c.1451-3C= (n.1451-3C=) c.1175-3C= (n.1175-3C=) | |
| 1 | g.68429931T>C | CA738208676 | RPE65 | c.1451-4A>G (n.1451-4A>G) c.1175-4A>G (n.1175-4A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429931T= | CA1173557469 | RPE65 | c.1451-4A= (n.1451-4A=) c.1175-4A= (n.1175-4A=) | |
| 1 | g.68429932_68429933insACA | CA2744008988 | RPE65 | c.1451-6_1451-5insTGT (n.1451-6_1451-5insTGT) c.1175-6_1175-5insTGT (n.1175-6_1175-5insTGT) | |
| 1 | g.68429933T>A | CA2499214848 | RPE65 | c.1451-6A>T (n.1451-6A>T) c.1175-6A>T (n.1175-6A>T) | ClinVar dbSNP |
| 1 | g.68429934A= | CA1173557470 | RPE65 | c.1451-7T= (n.1451-7T=) c.1175-7T= (n.1175-7T=) | |
| 1 | g.68429934A>G | CA902152 | RPE65 | c.1451-7T>C (n.1451-7T>C) c.1175-7T>C (n.1175-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429934A>T | CA523298917 | RPE65 | c.1451-7T>A (n.1451-7T>A) c.1175-7T>A (n.1175-7T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429934_68429935insCTT | CA2744008989 | RPE65 | c.1451-8_1451-7insAAG (n.1451-8_1451-7insAAG) c.1175-8_1175-7insAAG (n.1175-8_1175-7insAAG) | |
| 1 | g.68429935T>A | CA902153 | RPE65 | c.1451-8A>T (n.1451-8A>T) c.1175-8A>T (n.1175-8A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429935T= | CA1173557471 | RPE65 | c.1451-8A= (n.1451-8A=) c.1175-8A= (n.1175-8A=) | |
| 1 | g.68429935_68429936insA | CA2744008990 | RPE65 | c.1451-9_1451-8insT (n.1451-9_1451-8insT) c.1175-9_1175-8insT (n.1175-9_1175-8insT) | |
| 1 | g.68429936C= | CA1173557472 | RPE65 | c.1451-9G= (n.1451-9G=) c.1175-9G= (n.1175-9G=) | |
| 1 | g.68429936C>G | CA523298919 | RPE65 | c.1451-9G>C (n.1451-9G>C) c.1175-9G>C (n.1175-9G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429937del | CA2646149706 | RPE65 | c.1451-10del (n.1451-10del) c.1175-10del (n.1175-10del) | gnomAD v4 |
| 1 | g.68429937A= | CA1173557473 | RPE65 | c.1451-10T= (n.1451-10T=) c.1175-10T= (n.1175-10T=) | |
| 1 | g.68429937A>C | CA738208691 | RPE65 | c.1451-10T>G (n.1451-10T>G) c.1175-10T>G (n.1175-10T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429937A>G | CA2646149707 | RPE65 | c.1451-10T>C (n.1451-10T>C) c.1175-10T>C (n.1175-10T>C) | gnomAD v4 |
| 1 | g.68429937_68429938insACG | CA2744008991 | RPE65 | c.1451-11_1451-10insCGT (n.1451-11_1451-10insCGT) c.1175-11_1175-10insCGT (n.1175-11_1175-10insCGT) | |
| 1 | g.68429938G>C | CA2695996768 | RPE65 | c.1451-11C>G (n.1451-11C>G) c.1175-11C>G (n.1175-11C>G) | dbSNP |
| 1 | g.68429940A= | CA1173557474 | RPE65 | c.1451-13T= (n.1451-13T=) c.1175-13T= (n.1175-13T=) | |
| 1 | g.68429940A>G | CA1002830234 | RPE65 | c.1451-13T>C (n.1451-13T>C) c.1175-13T>C (n.1175-13T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68429940_68429941insCT | CA2744008992 | RPE65 | c.1451-14_1451-13insAG (n.1451-14_1451-13insAG) c.1175-14_1175-13insAG (n.1175-14_1175-13insAG) | |
| 1 | g.68429941G>A | CA2646149708 | RPE65 | c.1451-14C>T (n.1451-14C>T) c.1175-14C>T (n.1175-14C>T) | gnomAD v4 |
| 1 | g.68429941G>C | CA523298921 | RPE65 | c.1451-14C>G (n.1451-14C>G) c.1175-14C>G (n.1175-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.68429941G= | CA1173557475 | RPE65 | c.1451-14C= (n.1451-14C=) c.1175-14C= (n.1175-14C=) |