UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193644007_193644008delinsAC | CA1430245864 | OPA1 | c.1510_1511delinsAC (p.Thr504=) c.1345_1346delinsAC (p.Thr449=) c.1456_1457delinsAC (p.Thr486=) c.1399_1400delinsAC (p.Thr467=) c.1284_1285delinsAC c.1027_1028delinsAC (p.Thr343=) c.*1426_*1427delinsAC (n.*1426_*1427delinsAC) c.1005_1006delinsAC c.973_974delinsAC (p.Thr325=) c.1314_1315delinsAC c.1360_1361delinsAC (p.Thr454=) c.*823_*824delinsAC (n.*823_*824delinsAC) c.1533_1534delinsAC (p.Leu511=) c.333_334delinsAC c.1237_1238delinsAC (p.Thr413=) c.1348_1349delinsAC (p.Thr450=) c.1402_1403delinsAC (p.Thr468=) n.541_542delinsAC c.1291_1292delinsAC (p.Thr431=) c.976_977delinsAC (p.Thr326=) n.1739_1740delinsAC n.1574_1575delinsAC | |
| 3 | g.193644008del | CA203841 | OPA1 | c.1511del (p.Thr504LysfsTer18) c.1346del (p.Thr449LysfsTer18) c.1457del (p.Thr486LysfsTer18) c.1400del (p.Thr467LysfsTer18) c.1285del c.1028del (p.Thr343LysfsTer18) c.*1427del (n.*1427del) c.1006del c.974del (p.Thr325LysfsTer18) c.1315del c.1361del (p.Thr454LysfsTer18) c.*824del (n.*824del) c.1534del (p.Gln512ArgfsTer?) c.334del c.1238del (p.Thr413LysfsTer18) c.1349del (p.Thr450LysfsTer18) c.1403del (p.Thr468LysfsTer18) n.542del c.1292del (p.Thr431LysfsTer18) c.977del (p.Thr326LysfsTer18) n.1740del n.1575del | ClinVar dbSNP |
| 3 | g.193644008C>A | CA355789758 | OPA1 | c.1511C>A (p.Thr504Lys) c.1346C>A (p.Thr449Lys) c.1457C>A (p.Thr486Lys) c.1400C>A (p.Thr467Lys) c.1285C>A c.1028C>A (p.Thr343Lys) c.*1427C>A (n.*1427C>A) c.1006C>A c.974C>A (p.Thr325Lys) c.1315C>A c.1361C>A (p.Thr454Lys) c.*824C>A (n.*824C>A) c.1534C>A (p.Gln512Lys) c.334C>A c.1238C>A (p.Thr413Lys) c.1349C>A (p.Thr450Lys) c.1403C>A (p.Thr468Lys) n.542C>A c.1292C>A (p.Thr431Lys) c.977C>A (p.Thr326Lys) n.1740C>A n.1575C>A | |
| 3 | g.193644008C= | CA1430245874 | OPA1 | c.1511C= (p.Thr504=) c.1346C= (p.Thr449=) c.1457C= (p.Thr486=) c.1400C= (p.Thr467=) c.1285C= c.1028C= (p.Thr343=) c.*1427C= (n.*1427C=) c.1006C= c.974C= (p.Thr325=) c.1315C= c.1361C= (p.Thr454=) c.*824C= (n.*824C=) c.1534C= (p.Gln512=) c.334C= c.1238C= (p.Thr413=) c.1349C= (p.Thr450=) c.1403C= (p.Thr468=) n.542C= c.1292C= (p.Thr431=) c.977C= (p.Thr326=) n.1740C= n.1575C= | |
| 3 | g.193644008C>G | CA355789759 | OPA1 | c.1511C>G (p.Thr504Arg) c.1346C>G (p.Thr449Arg) c.1457C>G (p.Thr486Arg) c.1400C>G (p.Thr467Arg) c.1285C>G c.1028C>G (p.Thr343Arg) c.*1427C>G (n.*1427C>G) c.1006C>G c.974C>G (p.Thr325Arg) c.1315C>G c.1361C>G (p.Thr454Arg) c.*824C>G (n.*824C>G) c.1534C>G (p.Gln512Glu) c.334C>G c.1238C>G (p.Thr413Arg) c.1349C>G (p.Thr450Arg) c.1403C>G (p.Thr468Arg) n.542C>G c.1292C>G (p.Thr431Arg) c.977C>G (p.Thr326Arg) n.1740C>G n.1575C>G | ClinVar dbSNP |
| 3 | g.193644008C>T | CA355789760 | OPA1 | c.1511C>T (p.Thr504Ile) c.1346C>T (p.Thr449Ile) c.1457C>T (p.Thr486Ile) c.1400C>T (p.Thr467Ile) c.1285C>T c.1028C>T (p.Thr343Ile) c.*1427C>T (n.*1427C>T) c.1006C>T c.974C>T (p.Thr325Ile) c.1315C>T c.1361C>T (p.Thr454Ile) c.*824C>T (n.*824C>T) c.1534C>T (p.Gln512Ter) c.334C>T c.1238C>T (p.Thr413Ile) c.1349C>T (p.Thr450Ile) c.1403C>T (p.Thr468Ile) n.542C>T c.1292C>T (p.Thr431Ile) c.977C>T (p.Thr326Ile) n.1740C>T n.1575C>T | |
| 3 | g.193644008dup | CA2586973464 | OPA1 | c.1511dup (p.Asp505ArgfsTer?) c.1346dup (p.Asp450ArgfsTer?) c.1457dup (p.Asp487ArgfsTer?) c.1400dup (p.Asp468ArgfsTer?) c.1285dup c.1028dup (p.Asp344ArgfsTer?) c.*1427dup (n.*1427dup) c.1006dup c.974dup (p.Asp326ArgfsTer?) c.1315dup c.1361dup (p.Asp455ArgfsTer?) c.*824dup (n.*824dup) c.1534dup (p.Gln512ProfsTer?) c.334dup c.1238dup (p.Asp414ArgfsTer?) c.1349dup (p.Asp451ArgfsTer?) c.1403dup (p.Asp469ArgfsTer?) n.542dup c.1292dup (p.Asp432ArgfsTer?) c.977dup (p.Asp327ArgfsTer?) n.1740dup n.1575dup | |
| 3 | g.193644009A>C | CA437436717 | OPA1 | c.1512A>C (p.Thr504=) c.1347A>C (p.Thr449=) c.1458A>C (p.Thr486=) c.1401A>C (p.Thr467=) c.1286A>C c.1029A>C (p.Thr343=) c.*1428A>C (n.*1428A>C) c.1007A>C c.975A>C (p.Thr325=) c.1316A>C c.1362A>C (p.Thr454=) c.*825A>C (n.*825A>C) c.1535A>C (p.Gln512Pro) c.335A>C c.1239A>C (p.Thr413=) c.1350A>C (p.Thr450=) c.1404A>C (p.Thr468=) n.543A>C c.1293A>C (p.Thr431=) c.978A>C (p.Thr326=) n.1741A>C n.1576A>C | |
| 3 | g.193644009A>G | CA437436716 | OPA1 | c.1512A>G (p.Thr504=) c.1347A>G (p.Thr449=) c.1458A>G (p.Thr486=) c.1401A>G (p.Thr467=) c.1286A>G c.1029A>G (p.Thr343=) c.*1428A>G (n.*1428A>G) c.1007A>G c.975A>G (p.Thr325=) c.1316A>G c.1362A>G (p.Thr454=) c.*825A>G (n.*825A>G) c.1535A>G (p.Gln512Arg) c.335A>G c.1239A>G (p.Thr413=) c.1350A>G (p.Thr450=) c.1404A>G (p.Thr468=) n.543A>G c.1293A>G (p.Thr431=) c.978A>G (p.Thr326=) n.1741A>G n.1576A>G | |
| 3 | g.193644009A>T | CA437436714 | OPA1 | c.1512A>T (p.Thr504=) c.1347A>T (p.Thr449=) c.1458A>T (p.Thr486=) c.1401A>T (p.Thr467=) c.1286A>T c.1029A>T (p.Thr343=) c.*1428A>T (n.*1428A>T) c.1007A>T c.975A>T (p.Thr325=) c.1316A>T c.1362A>T (p.Thr454=) c.*825A>T (n.*825A>T) c.1535A>T (p.Gln512Leu) c.335A>T c.1239A>T (p.Thr413=) c.1350A>T (p.Thr450=) c.1404A>T (p.Thr468=) n.543A>T c.1293A>T (p.Thr431=) c.978A>T (p.Thr326=) n.1741A>T n.1576A>T | |
| 3 | g.193644010G>A | CA90532879 | OPA1 | c.1513G>A (p.Asp505Asn) c.1348G>A (p.Asp450Asn) c.1459G>A (p.Asp487Asn) c.1402G>A (p.Asp468Asn) c.1287G>A c.1030G>A (p.Asp344Asn) c.*1429G>A (n.*1429G>A) c.1008G>A c.976G>A (p.Asp326Asn) c.1317G>A c.1363G>A (p.Asp455Asn) c.*826G>A (n.*826G>A) c.1536G>A (p.Gln512=) c.336G>A c.1240G>A (p.Asp414Asn) c.1351G>A (p.Asp451Asn) c.1405G>A (p.Asp469Asn) n.544G>A c.1294G>A (p.Asp432Asn) c.979G>A (p.Asp327Asn) n.1742G>A n.1577G>A | ClinVar dbSNP |
| 3 | g.193644010G>C | CA2759399 | OPA1 | c.1513G>C (p.Asp505His) c.1348G>C (p.Asp450His) c.1459G>C (p.Asp487His) c.1402G>C (p.Asp468His) c.1287G>C c.1030G>C (p.Asp344His) c.*1429G>C (n.*1429G>C) c.1008G>C c.976G>C (p.Asp326His) c.1317G>C c.1363G>C (p.Asp455His) c.*826G>C (n.*826G>C) c.1536G>C (p.Gln512His) c.336G>C c.1240G>C (p.Asp414His) c.1351G>C (p.Asp451His) c.1405G>C (p.Asp469His) n.544G>C c.1294G>C (p.Asp432His) c.979G>C (p.Asp327His) n.1742G>C n.1577G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193644010G= | CA1430245886 | OPA1 | c.1513G= (p.Asp505=) c.1348G= (p.Asp450=) c.1459G= (p.Asp487=) c.1402G= (p.Asp468=) c.1287G= c.1030G= (p.Asp344=) c.*1429G= (n.*1429G=) c.1008G= c.976G= (p.Asp326=) c.1317G= c.1363G= (p.Asp455=) c.*826G= (n.*826G=) c.1536G= (p.Gln512=) c.336G= c.1240G= (p.Asp414=) c.1351G= (p.Asp451=) c.1405G= (p.Asp469=) n.544G= c.1294G= (p.Asp432=) c.979G= (p.Asp327=) n.1742G= n.1577G= | |
| 3 | g.193644010G>T | CA355789761 | OPA1 | c.1513G>T (p.Asp505Tyr) c.1348G>T (p.Asp450Tyr) c.1459G>T (p.Asp487Tyr) c.1402G>T (p.Asp468Tyr) c.1287G>T c.1030G>T (p.Asp344Tyr) c.*1429G>T (n.*1429G>T) c.1008G>T c.976G>T (p.Asp326Tyr) c.1317G>T c.1363G>T (p.Asp455Tyr) c.*826G>T (n.*826G>T) c.1536G>T (p.Gln512His) c.336G>T c.1240G>T (p.Asp414Tyr) c.1351G>T (p.Asp451Tyr) c.1405G>T (p.Asp469Tyr) n.544G>T c.1294G>T (p.Asp432Tyr) c.979G>T (p.Asp327Tyr) n.1742G>T n.1577G>T | |
| 3 | g.193644011A= | CA1430245893 | OPA1 | c.1514A= (p.Asp505=) c.1349A= (p.Asp450=) c.1460A= (p.Asp487=) c.1403A= (p.Asp468=) c.1288A= c.1031A= (p.Asp344=) c.*1430A= (n.*1430A=) c.1009A= c.977A= (p.Asp326=) c.1318A= c.1364A= (p.Asp455=) c.*827A= (n.*827A=) c.1537A= (p.Thr513=) c.337A= c.1241A= (p.Asp414=) c.1352A= (p.Asp451=) c.1406A= (p.Asp469=) n.545A= c.1295A= (p.Asp432=) c.980A= (p.Asp327=) n.1743A= n.1578A= | |
| 3 | g.193644011A>C | CA355789762 | OPA1 | c.1514A>C (p.Asp505Ala) c.1349A>C (p.Asp450Ala) c.1460A>C (p.Asp487Ala) c.1403A>C (p.Asp468Ala) c.1288A>C c.1031A>C (p.Asp344Ala) c.*1430A>C (n.*1430A>C) c.1009A>C c.977A>C (p.Asp326Ala) c.1318A>C c.1364A>C (p.Asp455Ala) c.*827A>C (n.*827A>C) c.1537A>C (p.Thr513Pro) c.337A>C c.1241A>C (p.Asp414Ala) c.1352A>C (p.Asp451Ala) c.1406A>C (p.Asp469Ala) n.545A>C c.1295A>C (p.Asp432Ala) c.980A>C (p.Asp327Ala) n.1743A>C n.1578A>C | |
| 3 | g.193644011A>G | CA2759400 | OPA1 | c.1514A>G (p.Asp505Gly) c.1349A>G (p.Asp450Gly) c.1460A>G (p.Asp487Gly) c.1403A>G (p.Asp468Gly) c.1288A>G c.1031A>G (p.Asp344Gly) c.*1430A>G (n.*1430A>G) c.1009A>G c.977A>G (p.Asp326Gly) c.1318A>G c.1364A>G (p.Asp455Gly) c.*827A>G (n.*827A>G) c.1537A>G (p.Thr513Ala) c.337A>G c.1241A>G (p.Asp414Gly) c.1352A>G (p.Asp451Gly) c.1406A>G (p.Asp469Gly) n.545A>G c.1295A>G (p.Asp432Gly) c.980A>G (p.Asp327Gly) n.1743A>G n.1578A>G | dbSNP ExAC gnomAD v2 |
| 3 | g.193644011A>T | CA355789763 | OPA1 | c.1514A>T (p.Asp505Val) c.1349A>T (p.Asp450Val) c.1460A>T (p.Asp487Val) c.1403A>T (p.Asp468Val) c.1288A>T c.1031A>T (p.Asp344Val) c.*1430A>T (n.*1430A>T) c.1009A>T c.977A>T (p.Asp326Val) c.1318A>T c.1364A>T (p.Asp455Val) c.*827A>T (n.*827A>T) c.1537A>T (p.Thr513Ser) c.337A>T c.1241A>T (p.Asp414Val) c.1352A>T (p.Asp451Val) c.1406A>T (p.Asp469Val) n.545A>T c.1295A>T (p.Asp432Val) c.980A>T (p.Asp327Val) n.1743A>T n.1578A>T | |
| 3 | g.193644012C>A | CA355789764 | OPA1 | c.1515C>A (p.Asp505Glu) c.1350C>A (p.Asp450Glu) c.1461C>A (p.Asp487Glu) c.1404C>A (p.Asp468Glu) c.1289C>A c.1032C>A (p.Asp344Glu) c.*1431C>A (n.*1431C>A) c.1010C>A c.978C>A (p.Asp326Glu) c.1319C>A c.1365C>A (p.Asp455Glu) c.*828C>A (n.*828C>A) c.1538C>A (p.Thr513Asn) c.338C>A c.1242C>A (p.Asp414Glu) c.1353C>A (p.Asp451Glu) c.1407C>A (p.Asp469Glu) n.546C>A c.1296C>A (p.Asp432Glu) c.981C>A (p.Asp327Glu) n.1744C>A n.1579C>A | |
| 3 | g.193644012C= | CA1430245898 | OPA1 | c.1515C= (p.Asp505=) c.1350C= (p.Asp450=) c.1461C= (p.Asp487=) c.1404C= (p.Asp468=) c.1289C= c.1032C= (p.Asp344=) c.*1431C= (n.*1431C=) c.1010C= c.978C= (p.Asp326=) c.1319C= c.1365C= (p.Asp455=) c.*828C= (n.*828C=) c.1538C= (p.Thr513=) c.338C= c.1242C= (p.Asp414=) c.1353C= (p.Asp451=) c.1407C= (p.Asp469=) n.546C= c.1296C= (p.Asp432=) c.981C= (p.Asp327=) n.1744C= n.1579C= | |
| 3 | g.193644012C>G | CA355789765 | OPA1 | c.1515C>G (p.Asp505Glu) c.1350C>G (p.Asp450Glu) c.1461C>G (p.Asp487Glu) c.1404C>G (p.Asp468Glu) c.1289C>G c.1032C>G (p.Asp344Glu) c.*1431C>G (n.*1431C>G) c.1010C>G c.978C>G (p.Asp326Glu) c.1319C>G c.1365C>G (p.Asp455Glu) c.*828C>G (n.*828C>G) c.1538C>G (p.Thr513Ser) c.338C>G c.1242C>G (p.Asp414Glu) c.1353C>G (p.Asp451Glu) c.1407C>G (p.Asp469Glu) n.546C>G c.1296C>G (p.Asp432Glu) c.981C>G (p.Asp327Glu) n.1744C>G n.1579C>G | |
| 3 | g.193644012C>T | CA2759401 | OPA1 | c.1515C>T (p.Asp505=) c.1350C>T (p.Asp450=) c.1461C>T (p.Asp487=) c.1404C>T (p.Asp468=) c.1289C>T c.1032C>T (p.Asp344=) c.*1431C>T (n.*1431C>T) c.1010C>T c.978C>T (p.Asp326=) c.1319C>T c.1365C>T (p.Asp455=) c.*828C>T (n.*828C>T) c.1538C>T (p.Thr513Ile) c.338C>T c.1242C>T (p.Asp414=) c.1353C>T (p.Asp451=) c.1407C>T (p.Asp469=) n.546C>T c.1296C>T (p.Asp432=) c.981C>T (p.Asp327=) n.1744C>T n.1579C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193644012_193644013delinsCT | CA1430245899 | OPA1 | c.1515_1516delinsCT (p.Asp505=) c.1350_1351delinsCT (p.Asp450=) c.1461_1462delinsCT (p.Asp487=) c.1404_1405delinsCT (p.Asp468=) c.1289_1290delinsCT c.1032_1033delinsCT (p.Asp344=) c.*1431_*1432delinsCT (n.*1431_*1432delinsCT) c.1010_1011delinsCT c.978_979delinsCT (p.Asp326=) c.1319_1320delinsCT c.1365_1366delinsCT (p.Asp455=) c.*828_*829delinsCT (n.*828_*829delinsCT) c.1538_1539delinsCT (p.Thr513=) c.338_339delinsCT c.1242_1243delinsCT (p.Asp414=) c.1353_1354delinsCT (p.Asp451=) c.1407_1408delinsCT (p.Asp469=) n.546_547delinsCT c.1296_1297delinsCT (p.Asp432=) c.981_982delinsCT (p.Asp327=) n.1744_1745delinsCT n.1579_1580delinsCT | |
| 3 | g.193644013T>A | CA355789766 | OPA1 | c.1516T>A (p.Leu506Met) c.1351T>A (p.Leu451Met) c.1462T>A (p.Leu488Met) c.1405T>A (p.Leu469Met) c.1290T>A c.1033T>A (p.Leu345Met) c.*1432T>A (n.*1432T>A) c.1011T>A c.979T>A (p.Leu327Met) c.1320T>A c.1366T>A (p.Leu456Met) c.*829T>A (n.*829T>A) c.1539T>A (p.Thr513=) c.339T>A c.1243T>A (p.Leu415Met) c.1354T>A (p.Leu452Met) c.1408T>A (p.Leu470Met) n.547T>A c.1297T>A (p.Leu433Met) c.982T>A (p.Leu328Met) n.1745T>A n.1580T>A | |
| 3 | g.193644013T>C | CA437436727 | OPA1 | c.1516T>C (p.Leu506=) c.1351T>C (p.Leu451=) c.1462T>C (p.Leu488=) c.1405T>C (p.Leu469=) c.1290T>C c.1033T>C (p.Leu345=) c.*1432T>C (n.*1432T>C) c.1011T>C c.979T>C (p.Leu327=) c.1320T>C c.1366T>C (p.Leu456=) c.*829T>C (n.*829T>C) c.1539T>C (p.Thr513=) c.339T>C c.1243T>C (p.Leu415=) c.1354T>C (p.Leu452=) c.1408T>C (p.Leu470=) n.547T>C c.1297T>C (p.Leu433=) c.982T>C (p.Leu328=) n.1745T>C n.1580T>C | |
| 3 | g.193644013T>G | CA355789767 | OPA1 | c.1516T>G (p.Leu506Val) c.1351T>G (p.Leu451Val) c.1462T>G (p.Leu488Val) c.1405T>G (p.Leu469Val) c.1290T>G c.1033T>G (p.Leu345Val) c.*1432T>G (n.*1432T>G) c.1011T>G c.979T>G (p.Leu327Val) c.1320T>G c.1366T>G (p.Leu456Val) c.*829T>G (n.*829T>G) c.1539T>G (p.Thr513=) c.339T>G c.1243T>G (p.Leu415Val) c.1354T>G (p.Leu452Val) c.1408T>G (p.Leu470Val) n.547T>G c.1297T>G (p.Leu433Val) c.982T>G (p.Leu328Val) n.1745T>G n.1580T>G | |
| 3 | g.193644014del | CA223204 | OPA1 | c.1517del (p.Leu506TrpfsTer16) c.1352del (p.Leu451TrpfsTer16) c.1463del (p.Leu488TrpfsTer16) c.1406del (p.Leu469TrpfsTer16) c.1291del c.1034del (p.Leu345TrpfsTer16) c.*1433del (n.*1433del) c.1012del c.980del (p.Leu327TrpfsTer16) c.1321del c.1367del (p.Leu456TrpfsTer16) c.*830del (n.*830del) c.1540del (p.Trp514GlyfsTer?) c.340del c.1244del (p.Leu415TrpfsTer16) c.1355del (p.Leu452TrpfsTer16) c.1409del (p.Leu470TrpfsTer16) n.548del c.1298del (p.Leu433TrpfsTer16) c.983del (p.Leu328TrpfsTer16) n.1746del n.1581del | ClinVar dbSNP |
| 3 | g.193644014T>A | CA355789768 | OPA1 | c.1517T>A (p.Leu506Ter) c.1352T>A (p.Leu451Ter) c.1463T>A (p.Leu488Ter) c.1406T>A (p.Leu469Ter) c.1291T>A c.1034T>A (p.Leu345Ter) c.*1433T>A (n.*1433T>A) c.1012T>A c.980T>A (p.Leu327Ter) c.1321T>A c.1367T>A (p.Leu456Ter) c.*830T>A (n.*830T>A) c.1540T>A (p.Trp514Arg) c.340T>A c.1244T>A (p.Leu415Ter) c.1355T>A (p.Leu452Ter) c.1409T>A (p.Leu470Ter) n.548T>A c.1298T>A (p.Leu433Ter) c.983T>A (p.Leu328Ter) n.1746T>A n.1581T>A | |
| 3 | g.193644014T>C | CA355789769 | OPA1 | c.1517T>C (p.Leu506Ser) c.1352T>C (p.Leu451Ser) c.1463T>C (p.Leu488Ser) c.1406T>C (p.Leu469Ser) c.1291T>C c.1034T>C (p.Leu345Ser) c.*1433T>C (n.*1433T>C) c.1012T>C c.980T>C (p.Leu327Ser) c.1321T>C c.1367T>C (p.Leu456Ser) c.*830T>C (n.*830T>C) c.1540T>C (p.Trp514Arg) c.340T>C c.1244T>C (p.Leu415Ser) c.1355T>C (p.Leu452Ser) c.1409T>C (p.Leu470Ser) n.548T>C c.1298T>C (p.Leu433Ser) c.983T>C (p.Leu328Ser) n.1746T>C n.1581T>C | |
| 3 | g.193644014T>G | CA355789770 | OPA1 | c.1517T>G (p.Leu506Trp) c.1352T>G (p.Leu451Trp) c.1463T>G (p.Leu488Trp) c.1406T>G (p.Leu469Trp) c.1291T>G c.1034T>G (p.Leu345Trp) c.*1433T>G (n.*1433T>G) c.1012T>G c.980T>G (p.Leu327Trp) c.1321T>G c.1367T>G (p.Leu456Trp) c.*830T>G (n.*830T>G) c.1540T>G (p.Trp514Gly) c.340T>G c.1244T>G (p.Leu415Trp) c.1355T>G (p.Leu452Trp) c.1409T>G (p.Leu470Trp) n.548T>G c.1298T>G (p.Leu433Trp) c.983T>G (p.Leu328Trp) n.1746T>G n.1581T>G | |
| 3 | g.193644014_193644015delinsTG | CA1430245927 | OPA1 | c.1517_1518delinsTG (p.Leu506=) c.1352_1353delinsTG (p.Leu451=) c.1463_1464delinsTG (p.Leu488=) c.1406_1407delinsTG (p.Leu469=) c.1291_1292delinsTG c.1034_1035delinsTG (p.Leu345=) c.*1433_*1434delinsTG (n.*1433_*1434delinsTG) c.1012_1013delinsTG c.980_981delinsTG (p.Leu327=) c.1321_1322delinsTG c.1367_1368delinsTG (p.Leu456=) c.*830_*831delinsTG (n.*830_*831delinsTG) c.1540_1541delinsTG (p.Trp514=) c.340_341delinsTG c.1244_1245delinsTG (p.Leu415=) c.1355_1356delinsTG (p.Leu452=) c.1409_1410delinsTG (p.Leu470=) n.548_549delinsTG c.1298_1299delinsTG (p.Leu433=) c.983_984delinsTG (p.Leu328=) n.1746_1747delinsTG n.1581_1582delinsTG | |
| 3 | g.193644015G>A | CA437436731 | OPA1 | c.1518G>A (p.Leu506=) c.1353G>A (p.Leu451=) c.1464G>A (p.Leu488=) c.1407G>A (p.Leu469=) c.1292G>A c.1035G>A (p.Leu345=) c.*1434G>A (n.*1434G>A) c.1013G>A c.981G>A (p.Leu327=) c.1322G>A c.1368G>A (p.Leu456=) c.*831G>A (n.*831G>A) c.1541G>A (p.Trp514Ter) c.341G>A c.1245G>A (p.Leu415=) c.1356G>A (p.Leu452=) c.1410G>A (p.Leu470=) n.549G>A c.1299G>A (p.Leu433=) c.984G>A (p.Leu328=) n.1747G>A n.1582G>A | |
| 3 | g.193644015G>C | CA2759402 | OPA1 | c.1518G>C (p.Leu506Phe) c.1353G>C (p.Leu451Phe) c.1464G>C (p.Leu488Phe) c.1407G>C (p.Leu469Phe) c.1292G>C c.1035G>C (p.Leu345Phe) c.*1434G>C (n.*1434G>C) c.1013G>C c.981G>C (p.Leu327Phe) c.1322G>C c.1368G>C (p.Leu456Phe) c.*831G>C (n.*831G>C) c.1541G>C (p.Trp514Ser) c.341G>C c.1245G>C (p.Leu415Phe) c.1356G>C (p.Leu452Phe) c.1410G>C (p.Leu470Phe) n.549G>C c.1299G>C (p.Leu433Phe) c.984G>C (p.Leu328Phe) n.1747G>C n.1582G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193644015G= | CA1430245939 | OPA1 | c.1518G= (p.Leu506=) c.1353G= (p.Leu451=) c.1464G= (p.Leu488=) c.1407G= (p.Leu469=) c.1292G= c.1035G= (p.Leu345=) c.*1434G= (n.*1434G=) c.1013G= c.981G= (p.Leu327=) c.1322G= c.1368G= (p.Leu456=) c.*831G= (n.*831G=) c.1541G= (p.Trp514=) c.341G= c.1245G= (p.Leu415=) c.1356G= (p.Leu452=) c.1410G= (p.Leu470=) n.549G= c.1299G= (p.Leu433=) c.984G= (p.Leu328=) n.1747G= n.1582G= | |
| 3 | g.193644015G>T | CA355789771 | OPA1 | c.1518G>T (p.Leu506Phe) c.1353G>T (p.Leu451Phe) c.1464G>T (p.Leu488Phe) c.1407G>T (p.Leu469Phe) c.1292G>T c.1035G>T (p.Leu345Phe) c.*1434G>T (n.*1434G>T) c.1013G>T c.981G>T (p.Leu327Phe) c.1322G>T c.1368G>T (p.Leu456Phe) c.*831G>T (n.*831G>T) c.1541G>T (p.Trp514Leu) c.341G>T c.1245G>T (p.Leu415Phe) c.1356G>T (p.Leu452Phe) c.1410G>T (p.Leu470Phe) n.549G>T c.1299G>T (p.Leu433Phe) c.984G>T (p.Leu328Phe) n.1747G>T n.1582G>T | dbSNP |
| 3 | g.193644016del | CA10575492 | OPA1 | c.1519del (p.Val507SerfsTer15) c.1354del (p.Val452SerfsTer15) c.1465del (p.Val489SerfsTer15) c.1408del (p.Val470SerfsTer15) c.1293del c.1036del (p.Val346SerfsTer15) c.*1435del (n.*1435del) c.1014del c.982del (p.Val328SerfsTer15) c.1323del c.1369del (p.Val457SerfsTer15) c.*832del (n.*832del) c.1542del (p.Trp514CysfsTer?) c.342del c.1246del (p.Val416SerfsTer15) c.1357del (p.Val453SerfsTer15) c.1411del (p.Val471SerfsTer15) n.550del c.1300del (p.Val434SerfsTer15) c.985del (p.Val329SerfsTer15) n.1748del n.1583del | ClinVar dbSNP |
| 3 | g.193644016G>A | CA355789774 | OPA1 | c.1519G>A (p.Val507Ile) c.1354G>A (p.Val452Ile) c.1465G>A (p.Val489Ile) c.1408G>A (p.Val470Ile) c.1293G>A c.1036G>A (p.Val346Ile) c.*1435G>A (n.*1435G>A) c.1014G>A c.982G>A (p.Val328Ile) c.1323G>A c.1369G>A (p.Val457Ile) c.*832G>A (n.*832G>A) c.1542G>A (p.Trp514Ter) c.342G>A c.1246G>A (p.Val416Ile) c.1357G>A (p.Val453Ile) c.1411G>A (p.Val471Ile) n.550G>A c.1300G>A (p.Val434Ile) c.985G>A (p.Val329Ile) n.1748G>A n.1583G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193644016G>C | CA355789773 | OPA1 | c.1519G>C (p.Val507Leu) c.1354G>C (p.Val452Leu) c.1465G>C (p.Val489Leu) c.1408G>C (p.Val470Leu) c.1293G>C c.1036G>C (p.Val346Leu) c.*1435G>C (n.*1435G>C) c.1014G>C c.982G>C (p.Val328Leu) c.1323G>C c.1369G>C (p.Val457Leu) c.*832G>C (n.*832G>C) c.1542G>C (p.Trp514Cys) c.342G>C c.1246G>C (p.Val416Leu) c.1357G>C (p.Val453Leu) c.1411G>C (p.Val471Leu) n.550G>C c.1300G>C (p.Val434Leu) c.985G>C (p.Val329Leu) n.1748G>C n.1583G>C | |
| 3 | g.193644016G= | CA1430245946 | OPA1 | c.1519G= (p.Val507=) c.1354G= (p.Val452=) c.1465G= (p.Val489=) c.1408G= (p.Val470=) c.1293G= c.1036G= (p.Val346=) c.*1435G= (n.*1435G=) c.1014G= c.982G= (p.Val328=) c.1323G= c.1369G= (p.Val457=) c.*832G= (n.*832G=) c.1542G= (p.Trp514=) c.342G= c.1246G= (p.Val416=) c.1357G= (p.Val453=) c.1411G= (p.Val471=) n.550G= c.1300G= (p.Val434=) c.985G= (p.Val329=) n.1748G= n.1583G= | |
| 3 | g.193644016G>T | CA355789772 | OPA1 | c.1519G>T (p.Val507Phe) c.1354G>T (p.Val452Phe) c.1465G>T (p.Val489Phe) c.1408G>T (p.Val470Phe) c.1293G>T c.1036G>T (p.Val346Phe) c.*1435G>T (n.*1435G>T) c.1014G>T c.982G>T (p.Val328Phe) c.1323G>T c.1369G>T (p.Val457Phe) c.*832G>T (n.*832G>T) c.1542G>T (p.Trp514Cys) c.342G>T c.1246G>T (p.Val416Phe) c.1357G>T (p.Val453Phe) c.1411G>T (p.Val471Phe) n.550G>T c.1300G>T (p.Val434Phe) c.985G>T (p.Val329Phe) n.1748G>T n.1583G>T | |
| 3 | g.193644017T>A | CA355789775 | OPA1 | c.1520T>A (p.Val507Asp) c.1355T>A (p.Val452Asp) c.1466T>A (p.Val489Asp) c.1409T>A (p.Val470Asp) c.1294T>A c.1037T>A (p.Val346Asp) c.*1436T>A (n.*1436T>A) c.1015T>A c.983T>A (p.Val328Asp) c.1324T>A c.1370T>A (p.Val457Asp) c.*833T>A (n.*833T>A) c.1543T>A (p.Ser515Thr) c.343T>A c.1247T>A (p.Val416Asp) c.1358T>A (p.Val453Asp) c.1412T>A (p.Val471Asp) n.551T>A c.1301T>A (p.Val434Asp) c.986T>A (p.Val329Asp) n.1749T>A n.1584T>A | |
| 3 | g.193644017T>C | CA355789776 | OPA1 | c.1520T>C (p.Val507Ala) c.1355T>C (p.Val452Ala) c.1466T>C (p.Val489Ala) c.1409T>C (p.Val470Ala) c.1294T>C c.1037T>C (p.Val346Ala) c.*1436T>C (n.*1436T>C) c.1015T>C c.983T>C (p.Val328Ala) c.1324T>C c.1370T>C (p.Val457Ala) c.*833T>C (n.*833T>C) c.1543T>C (p.Ser515Pro) c.343T>C c.1247T>C (p.Val416Ala) c.1358T>C (p.Val453Ala) c.1412T>C (p.Val471Ala) n.551T>C c.1301T>C (p.Val434Ala) c.986T>C (p.Val329Ala) n.1749T>C n.1584T>C | |
| 3 | g.193644017T>G | CA355789777 | OPA1 | c.1520T>G (p.Val507Gly) c.1355T>G (p.Val452Gly) c.1466T>G (p.Val489Gly) c.1409T>G (p.Val470Gly) c.1294T>G c.1037T>G (p.Val346Gly) c.*1436T>G (n.*1436T>G) c.1015T>G c.983T>G (p.Val328Gly) c.1324T>G c.1370T>G (p.Val457Gly) c.*833T>G (n.*833T>G) c.1543T>G (p.Ser515Ala) c.343T>G c.1247T>G (p.Val416Gly) c.1358T>G (p.Val453Gly) c.1412T>G (p.Val471Gly) n.551T>G c.1301T>G (p.Val434Gly) c.986T>G (p.Val329Gly) n.1749T>G n.1584T>G | |
| 3 | g.193644018C>A | CA437436738 | OPA1 | c.1521C>A (p.Val507=) c.1356C>A (p.Val452=) c.1467C>A (p.Val489=) c.1410C>A (p.Val470=) c.1295C>A c.1038C>A (p.Val346=) c.*1437C>A (n.*1437C>A) c.1016C>A c.984C>A (p.Val328=) c.1325C>A c.1371C>A (p.Val457=) c.*834C>A (n.*834C>A) c.1544C>A (p.Ser515Ter) c.344C>A c.1248C>A (p.Val416=) c.1359C>A (p.Val453=) c.1413C>A (p.Val471=) n.552C>A c.1302C>A (p.Val434=) c.987C>A (p.Val329=) n.1750C>A n.1585C>A | gnomAD v4 |
| 3 | g.193644018C>G | CA437436740 | OPA1 | c.1521C>G (p.Val507=) c.1356C>G (p.Val452=) c.1467C>G (p.Val489=) c.1410C>G (p.Val470=) c.1295C>G c.1038C>G (p.Val346=) c.*1437C>G (n.*1437C>G) c.1016C>G c.984C>G (p.Val328=) c.1325C>G c.1371C>G (p.Val457=) c.*834C>G (n.*834C>G) c.1544C>G (p.Ser515Ter) c.344C>G c.1248C>G (p.Val416=) c.1359C>G (p.Val453=) c.1413C>G (p.Val471=) n.552C>G c.1302C>G (p.Val434=) c.987C>G (p.Val329=) n.1750C>G n.1585C>G | |
| 3 | g.193644018C>T | CA437436742 | OPA1 | c.1521C>T (p.Val507=) c.1356C>T (p.Val452=) c.1467C>T (p.Val489=) c.1410C>T (p.Val470=) c.1295C>T c.1038C>T (p.Val346=) c.*1437C>T (n.*1437C>T) c.1016C>T c.984C>T (p.Val328=) c.1325C>T c.1371C>T (p.Val457=) c.*834C>T (n.*834C>T) c.1544C>T (p.Ser515Leu) c.344C>T c.1248C>T (p.Val416=) c.1359C>T (p.Val453=) c.1413C>T (p.Val471=) n.552C>T c.1302C>T (p.Val434=) c.987C>T (p.Val329=) n.1750C>T n.1585C>T | |
| 3 | g.193644019A>C | CA355789778 | OPA1 | c.1522A>C (p.Ser508Arg) c.1357A>C (p.Ser453Arg) c.1468A>C (p.Ser490Arg) c.1411A>C (p.Ser471Arg) c.1296A>C c.1039A>C (p.Ser347Arg) c.*1438A>C (n.*1438A>C) c.1017A>C c.985A>C (p.Ser329Arg) c.1326A>C c.1372A>C (p.Ser458Arg) c.*835A>C (n.*835A>C) c.1545A>C (p.Ser515=) c.345A>C c.1249A>C (p.Ser417Arg) c.1360A>C (p.Ser454Arg) c.1414A>C (p.Ser472Arg) n.553A>C c.1303A>C (p.Ser435Arg) c.988A>C (p.Ser330Arg) n.1751A>C n.1586A>C | |
| 3 | g.193644019A>G | CA355789779 | OPA1 | c.1522A>G (p.Ser508Gly) c.1357A>G (p.Ser453Gly) c.1468A>G (p.Ser490Gly) c.1411A>G (p.Ser471Gly) c.1296A>G c.1039A>G (p.Ser347Gly) c.*1438A>G (n.*1438A>G) c.1017A>G c.985A>G (p.Ser329Gly) c.1326A>G c.1372A>G (p.Ser458Gly) c.*835A>G (n.*835A>G) c.1545A>G (p.Ser515=) c.345A>G c.1249A>G (p.Ser417Gly) c.1360A>G (p.Ser454Gly) c.1414A>G (p.Ser472Gly) n.553A>G c.1303A>G (p.Ser435Gly) c.988A>G (p.Ser330Gly) n.1751A>G n.1586A>G | |
| 3 | g.193644019A>T | CA355789780 | OPA1 | c.1522A>T (p.Ser508Cys) c.1357A>T (p.Ser453Cys) c.1468A>T (p.Ser490Cys) c.1411A>T (p.Ser471Cys) c.1296A>T c.1039A>T (p.Ser347Cys) c.*1438A>T (n.*1438A>T) c.1017A>T c.985A>T (p.Ser329Cys) c.1326A>T c.1372A>T (p.Ser458Cys) c.*835A>T (n.*835A>T) c.1545A>T (p.Ser515=) c.345A>T c.1249A>T (p.Ser417Cys) c.1360A>T (p.Ser454Cys) c.1414A>T (p.Ser472Cys) n.553A>T c.1303A>T (p.Ser435Cys) c.988A>T (p.Ser330Cys) n.1751A>T n.1586A>T | |
| 3 | g.193644020G>A | CA355789781 | OPA1 | c.1523G>A (p.Ser508Asn) c.1358G>A (p.Ser453Asn) c.1469G>A (p.Ser490Asn) c.1412G>A (p.Ser471Asn) c.1297G>A c.1040G>A (p.Ser347Asn) c.*1439G>A (n.*1439G>A) c.1018G>A c.986G>A (p.Ser329Asn) c.1327G>A c.1373G>A (p.Ser458Asn) c.*836G>A (n.*836G>A) c.1546G>A (p.Val516Ile) c.346G>A c.1250G>A (p.Ser417Asn) c.1361G>A (p.Ser454Asn) c.1415G>A (p.Ser472Asn) n.554G>A c.1304G>A (p.Ser435Asn) c.989G>A (p.Ser330Asn) n.1752G>A n.1587G>A |