Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625174A>C | CA412166778 | ARSA | c.1501T>G (p.Cys501Gly) c.1243T>G (p.Cys415Gly) c.180+189T>G c.*234T>G (n.*234T>G) c.1615T>G (p.Cys539Gly) | |
22 | g.50625174A>G | CA412166782 | ARSA | c.1501T>C (p.Cys501Arg) c.1243T>C (p.Cys415Arg) c.180+189T>C c.*234T>C (n.*234T>C) c.1615T>C (p.Cys539Arg) | |
22 | g.50625174A>T | CA412166797 | ARSA | c.1501T>A (p.Cys501Ser) c.1243T>A (p.Cys415Ser) c.180+189T>A c.*234T>A (n.*234T>A) c.1615T>A (p.Cys539Ser) | |
22 | g.50625175A= | CA2410958345 | ARSA | c.1500T= (p.Ala500=) c.1242T= (p.Ala414=) c.180+188T= c.*233T= (n.*233T=) c.1614T= (p.Ala538=) | |
22 | g.50625175A>C | CA515390818 | ARSA | c.1500T>G (p.Ala500=) c.1242T>G (p.Ala414=) c.180+188T>G c.*233T>G (n.*233T>G) c.1614T>G (p.Ala538=) | |
22 | g.50625175A>G | CA10324717 | ARSA | c.1500T>C (p.Ala500=) c.1242T>C (p.Ala414=) c.180+188T>C c.*233T>C (n.*233T>C) c.1614T>C (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v4 |
22 | g.50625175A>T | CA515390819 | ARSA | c.1500T>A (p.Ala500=) c.1242T>A (p.Ala414=) c.180+188T>A c.*233T>A (n.*233T>A) c.1614T>A (p.Ala538=) | |
22 | g.50625176G>A | CA412166812 | ARSA | c.1499C>T (p.Ala500Val) c.1241C>T (p.Ala414Val) c.180+187C>T c.*232C>T (n.*232C>T) c.1613C>T (p.Ala538Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625176G>C | CA412166822 | ARSA | c.1499C>G (p.Ala500Gly) c.1241C>G (p.Ala414Gly) c.180+187C>G c.*232C>G (n.*232C>G) c.1613C>G (p.Ala538Gly) | |
22 | g.50625176G= | CA2410958346 | ARSA | c.1499C= (p.Ala500=) c.1241C= (p.Ala414=) c.180+187C= c.*232C= (n.*232C=) c.1613C= (p.Ala538=) | |
22 | g.50625176G>T | CA412166826 | ARSA | c.1499C>A (p.Ala500Asp) c.1241C>A (p.Ala414Asp) c.180+187C>A c.*232C>A (n.*232C>A) c.1613C>A (p.Ala538Asp) | gnomAD v4 |
22 | g.50625177C>A | CA412166831 | ARSA | c.1498G>T (p.Ala500Ser) c.1240G>T (p.Ala414Ser) c.180+186G>T c.*231G>T (n.*231G>T) c.1612G>T (p.Ala538Ser) | gnomAD v4 |
22 | g.50625177C>G | CA412166835 | ARSA | c.1498G>C (p.Ala500Pro) c.1240G>C (p.Ala414Pro) c.180+186G>C c.*231G>C (n.*231G>C) c.1612G>C (p.Ala538Pro) | |
22 | g.50625177C>T | CA412166839 | ARSA | c.1498G>A (p.Ala500Thr) c.1240G>A (p.Ala414Thr) c.180+186G>A c.*231G>A (n.*231G>A) c.1612G>A (p.Ala538Thr) | gnomAD v4 |
22 | g.50625178T>A | CA515390825 | ARSA | c.1497A>T (p.Pro499=) c.1239A>T (p.Pro413=) c.180+185A>T c.*230A>T (n.*230A>T) c.1611A>T (p.Pro537=) | |
22 | g.50625178T>C | CA515390826 | ARSA | c.1497A>G (p.Pro499=) c.1239A>G (p.Pro413=) c.180+185A>G c.*230A>G (n.*230A>G) c.1611A>G (p.Pro537=) | |
22 | g.50625178T>G | CA515390827 | ARSA | c.1497A>C (p.Pro499=) c.1239A>C (p.Pro413=) c.180+185A>C c.*230A>C (n.*230A>C) c.1611A>C (p.Pro537=) | |
22 | g.50625179G>A | CA412166843 | ARSA | c.1496C>T (p.Pro499Leu) c.1238C>T (p.Pro413Leu) c.180+184C>T c.*229C>T (n.*229C>T) c.1610C>T (p.Pro537Leu) | |
22 | g.50625179G>C | CA412166844 | ARSA | c.1496C>G (p.Pro499Arg) c.1238C>G (p.Pro413Arg) c.180+184C>G c.*229C>G (n.*229C>G) c.1610C>G (p.Pro537Arg) | |
22 | g.50625179G>T | CA412166845 | ARSA | c.1496C>A (p.Pro499Gln) c.1238C>A (p.Pro413Gln) c.180+184C>A c.*229C>A (n.*229C>A) c.1610C>A (p.Pro537Gln) | |
22 | g.50625182_50625185del | CA913088699 | ARSA | c.1493_1496del (p.Arg498GlnfsTer21) c.1235_1238del (p.Arg412GlnfsTer21) c.180+181_180+184del c.*226_*229del (n.*226_*229del) c.1607_1610del (p.Arg536GlnfsTer21) | |
22 | g.50625180G>A | CA412166849 | ARSA | c.1495C>T (p.Pro499Ser) c.1237C>T (p.Pro413Ser) c.180+183C>T c.*228C>T (n.*228C>T) c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v4 |
22 | g.50625180G>C | CA412166855 | ARSA | c.1495C>G (p.Pro499Ala) c.1237C>G (p.Pro413Ala) c.180+183C>G c.*228C>G (n.*228C>G) c.1609C>G (p.Pro537Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625180G= | CA2410958347 | ARSA | c.1495C= (p.Pro499=) c.1237C= (p.Pro413=) c.180+183C= c.*228C= (n.*228C=) c.1609C= (p.Pro537=) | |
22 | g.50625180G>T | CA412166854 | ARSA | c.1495C>A (p.Pro499Thr) c.1237C>A (p.Pro413Thr) c.180+183C>A c.*228C>A (n.*228C>A) c.1609C>A (p.Pro537Thr) | gnomAD v4 |
22 | g.50625181G>A | CA515390832 | ARSA | c.1494C>T (p.Arg498=) c.1236C>T (p.Arg412=) c.180+182C>T c.*227C>T (n.*227C>T) c.1608C>T (p.Arg536=) | gnomAD v4 |
22 | g.50625181G>C | CA515390833 | ARSA | c.1494C>G (p.Arg498=) c.1236C>G (p.Arg412=) c.180+182C>G c.*227C>G (n.*227C>G) c.1608C>G (p.Arg536=) | |
22 | g.50625181G>T | CA515390835 | ARSA | c.1494C>A (p.Arg498=) c.1236C>A (p.Arg412=) c.180+182C>A c.*227C>A (n.*227C>A) c.1608C>A (p.Arg536=) | gnomAD v4 |
22 | g.50625182del | CA2657590636 | ARSA | c.1493del (p.Arg498ProfsTer22) c.1235del (p.Arg412ProfsTer22) c.180+181del c.*226del (n.*226del) c.1607del (p.Arg536ProfsTer22) | gnomAD v4 |
22 | g.50625182C>A | CA10324719 | ARSA | c.1493G>T (p.Arg498Leu) c.1235G>T (p.Arg412Leu) c.180+181G>T c.*226G>T (n.*226G>T) c.1607G>T (p.Arg536Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625182C= | CA2410958348 | ARSA | c.1493G= (p.Arg498=) c.1235G= (p.Arg412=) c.180+181G= c.*226G= (n.*226G=) c.1607G= (p.Arg536=) | |
22 | g.50625182C>G | CA412166858 | ARSA | c.1493G>C (p.Arg498Pro) c.1235G>C (p.Arg412Pro) c.180+181G>C c.*226G>C (n.*226G>C) c.1607G>C (p.Arg536Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625182C>T | CA146671 | ARSA | c.1493G>A (p.Arg498His) c.1235G>A (p.Arg412His) c.180+181G>A c.*226G>A (n.*226G>A) c.1607G>A (p.Arg536His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625182_50625185delinsCGGG | CA2410958349 | ARSA | c.1490_1493delinsCCCG (p.Pro497=) c.1232_1235delinsCCCG (p.Pro411=) c.180+178_180+181delinsCCCG c.*223_*226delinsCCCG (n.*223_*226delinsCCCG) c.1604_1607delinsCCCG (p.Pro535=) | |
22 | g.50625183G>A | CA325531157 | ARSA | c.1492C>T (p.Arg498Cys) c.1234C>T (p.Arg412Cys) c.180+180C>T c.*225C>T (n.*225C>T) c.1606C>T (p.Arg536Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625183G>C | CA412166873 | ARSA | c.1492C>G (p.Arg498Gly) c.1234C>G (p.Arg412Gly) c.180+180C>G c.*225C>G (n.*225C>G) c.1606C>G (p.Arg536Gly) | |
22 | g.50625183G= | CA2410958350 | ARSA | c.1492C= (p.Arg498=) c.1234C= (p.Arg412=) c.180+180C= c.*225C= (n.*225C=) c.1606C= (p.Arg536=) | |
22 | g.50625183G>T | CA412166875 | ARSA | c.1492C>A (p.Arg498Ser) c.1234C>A (p.Arg412Ser) c.180+180C>A c.*225C>A (n.*225C>A) c.1606C>A (p.Arg536Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625188dup | CA10324718 | ARSA | c.1492dup (p.Arg498ProfsTer?) c.1234dup (p.Arg412ProfsTer?) c.180+180dup c.*225dup (n.*225dup) c.1606dup (p.Arg536ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625185_50625188dup | CA278472 | ARSA | c.1489_1492dup (p.Arg498ProfsTer?) c.1231_1234dup (p.Arg412ProfsTer?) c.180+177_180+180dup c.*222_*225dup (n.*222_*225dup) c.1603_1606dup (p.Arg536ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625183_50625188dup | CA2695231019 | ARSA | c.1487_1492dup (p.Pro497_Arg498insProPro) c.1229_1234dup (p.Pro411_Arg412insProPro) c.180+175_180+180dup c.*220_*225dup (n.*220_*225dup) c.1601_1606dup (p.Pro535_Arg536insProPro) | |
22 | g.50625188del | CA412166882 | ARSA | c.1492del (p.Arg498AlafsTer22) c.1234del (p.Arg412AlafsTer22) c.180+180del c.*225del (n.*225del) c.1606del (p.Arg536AlafsTer22) | ClinVar dbSNP gnomAD v4 |
22 | g.50625186_50625188del | CA658824681 | ARSA | c.1490_1492del (p.Pro497del) c.1232_1234del (p.Pro411del) c.180+178_180+180del c.*223_*225del (n.*223_*225del) c.1604_1606del (p.Pro535del) | ClinVar dbSNP |
22 | g.50625183_50625190del | CA2657590647 | ARSA | c.1485_1492del (p.Cys495TrpfsTer?) c.1227_1234del (p.Cys409TrpfsTer?) c.180+173_180+180del c.*218_*225del (n.*218_*225del) c.1599_1606del (p.Cys533TrpfsTer?) | gnomAD v4 |
22 | g.50625184G>A | CA515390849 | ARSA | c.1491C>T (p.Pro497=) c.1233C>T (p.Pro411=) c.180+179C>T c.*224C>T (n.*224C>T) c.1605C>T (p.Pro535=) | |
22 | g.50625184G>C | CA515390851 | ARSA | c.1491C>G (p.Pro497=) c.1233C>G (p.Pro411=) c.180+179C>G c.*224C>G (n.*224C>G) c.1605C>G (p.Pro535=) | |
22 | g.50625184G>T | CA515390854 | ARSA | c.1491C>A (p.Pro497=) c.1233C>A (p.Pro411=) c.180+179C>A c.*224C>A (n.*224C>A) c.1605C>A (p.Pro535=) | gnomAD v4 |
22 | g.50625185G>A | CA412166891 | ARSA | c.1490C>T (p.Pro497Leu) c.1232C>T (p.Pro411Leu) c.180+178C>T c.*223C>T (n.*223C>T) c.1604C>T (p.Pro535Leu) | gnomAD v4 |
22 | g.50625185G>C | CA412166890 | ARSA | c.1490C>G (p.Pro497Arg) c.1232C>G (p.Pro411Arg) c.180+178C>G c.*223C>G (n.*223C>G) c.1604C>G (p.Pro535Arg) | |
22 | g.50625185G>T | CA412166886 | ARSA | c.1490C>A (p.Pro497His) c.1232C>A (p.Pro411His) c.180+178C>A c.*223C>A (n.*223C>A) c.1604C>A (p.Pro535His) | gnomAD v4 |