| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.50625187G>A | CA515390859 | ARSA | c.1488C>T (p.Thr496=) c.1230C>T (p.Thr410=) c.180+176C>T c.*221C>T (n.*221C>T) c.1602C>T (p.Thr534=) | gnomAD v4 |
| 22 | g.50625187G>C | CA515390860 | ARSA | c.1488C>G (p.Thr496=) c.1230C>G (p.Thr410=) c.180+176C>G c.*221C>G (n.*221C>G) c.1602C>G (p.Thr534=) | ClinVar |
| 22 | g.50625187G>T | CA515390862 | ARSA | c.1488C>A (p.Thr496=) c.1230C>A (p.Thr410=) c.180+176C>A c.*221C>A (n.*221C>A) c.1602C>A (p.Thr534=) | gnomAD v4 |
| 22 | g.50625188G>A | CA10324720 | ARSA | c.1487C>T (p.Thr496Ile) c.1229C>T (p.Thr410Ile) c.180+175C>T c.*220C>T (n.*220C>T) c.1601C>T (p.Thr534Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625188G>C | CA412166911 | ARSA | c.1487C>G (p.Thr496Ser) c.1229C>G (p.Thr410Ser) c.180+175C>G c.*220C>G (n.*220C>G) c.1601C>G (p.Thr534Ser) | |
| 22 | g.50625188G= | CA2410958352 | ARSA | c.1487C= (p.Thr496=) c.1229C= (p.Thr410=) c.180+175C= c.*220C= (n.*220C=) c.1601C= (p.Thr534=) | |
| 22 | g.50625188G>T | CA412166917 | ARSA | c.1487C>A (p.Thr496Asn) c.1229C>A (p.Thr410Asn) c.180+175C>A c.*220C>A (n.*220C>A) c.1601C>A (p.Thr534Asn) | gnomAD v4 |
| 22 | g.50625189T>A | CA412166920 | ARSA | c.1486A>T (p.Thr496Ser) c.1228A>T (p.Thr410Ser) c.180+174A>T c.*219A>T (n.*219A>T) c.1600A>T (p.Thr534Ser) | gnomAD v4 |
| 22 | g.50625189T>C | CA412166925 | ARSA | c.1486A>G (p.Thr496Ala) c.1228A>G (p.Thr410Ala) c.180+174A>G c.*219A>G (n.*219A>G) c.1600A>G (p.Thr534Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625189T>G | CA412166929 | ARSA | c.1486A>C (p.Thr496Pro) c.1228A>C (p.Thr410Pro) c.180+174A>C c.*219A>C (n.*219A>C) c.1600A>C (p.Thr534Pro) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625189T= | CA2410958353 | ARSA | c.1486A= (p.Thr496=) c.1228A= (p.Thr410=) c.180+174A= c.*219A= (n.*219A=) c.1600A= (p.Thr534=) | |
| 22 | g.50625190G>A | CA515390875 | ARSA | c.1485C>T (p.Cys495=) c.1227C>T (p.Cys409=) c.180+173C>T c.*218C>T (n.*218C>T) c.1599C>T (p.Cys533=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625190G>C | CA412166936 | ARSA | c.1485C>G (p.Cys495Trp) c.1227C>G (p.Cys409Trp) c.180+173C>G c.*218C>G (n.*218C>G) c.1599C>G (p.Cys533Trp) | |
| 22 | g.50625190G= | CA2410958354 | ARSA | c.1485C= (p.Cys495=) c.1227C= (p.Cys409=) c.180+173C= c.*218C= (n.*218C=) c.1599C= (p.Cys533=) | |
| 22 | g.50625190G>T | CA412166941 | ARSA | c.1485C>A (p.Cys495Ter) c.1227C>A (p.Cys409Ter) c.180+173C>A c.*218C>A (n.*218C>A) c.1599C>A (p.Cys533Ter) | gnomAD v4 |
| 22 | g.50625191C>A | CA412166946 | ARSA | c.1484G>T (p.Cys495Phe) c.1226G>T (p.Cys409Phe) c.180+172G>T c.*217G>T (n.*217G>T) c.1598G>T (p.Cys533Phe) | gnomAD v4 |
| 22 | g.50625191C>G | CA412166952 | ARSA | c.1484G>C (p.Cys495Ser) c.1226G>C (p.Cys409Ser) c.180+172G>C c.*217G>C (n.*217G>C) c.1598G>C (p.Cys533Ser) | |
| 22 | g.50625191C>T | CA412166956 | ARSA | c.1484G>A (p.Cys495Tyr) c.1226G>A (p.Cys409Tyr) c.180+172G>A c.*217G>A (n.*217G>A) c.1598G>A (p.Cys533Tyr) | gnomAD v4 |
| 22 | g.50625192A= | CA2410958355 | ARSA | c.1483T= (p.Cys495=) c.1225T= (p.Cys409=) c.180+171T= c.*216T= (n.*216T=) c.1597T= (p.Cys533=) | |
| 22 | g.50625192A>C | CA412166975 | ARSA | c.1483T>G (p.Cys495Gly) c.1225T>G (p.Cys409Gly) c.180+171T>G c.*216T>G (n.*216T>G) c.1597T>G (p.Cys533Gly) | ClinVar |
| 22 | g.50625192A>G | CA412166968 | ARSA | c.1483T>C (p.Cys495Arg) c.1225T>C (p.Cys409Arg) c.180+171T>C c.*216T>C (n.*216T>C) c.1597T>C (p.Cys533Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625192A>T | CA412166964 | ARSA | c.1483T>A (p.Cys495Ser) c.1225T>A (p.Cys409Ser) c.180+171T>A c.*216T>A (n.*216T>A) c.1597T>A (p.Cys533Ser) | |
| 22 | g.50625193G>A | CA515390885 | ARSA | c.1482C>T (p.Gly494=) c.1224C>T (p.Gly408=) c.180+170C>T c.*215C>T (n.*215C>T) c.1596C>T (p.Gly532=) | gnomAD v4 |
| 22 | g.50625193G>C | CA515390887 | ARSA | c.1482C>G (p.Gly494=) c.1224C>G (p.Gly408=) c.180+170C>G c.*215C>G (n.*215C>G) c.1596C>G (p.Gly532=) | |
| 22 | g.50625193G>T | CA515390888 | ARSA | c.1482C>A (p.Gly494=) c.1224C>A (p.Gly408=) c.180+170C>A c.*215C>A (n.*215C>A) c.1596C>A (p.Gly532=) | gnomAD v4 |
| 22 | g.50625194C>A | CA412166980 | ARSA | c.1481G>T (p.Gly494Val) c.1223G>T (p.Gly408Val) c.180+169G>T c.*214G>T (n.*214G>T) c.1595G>T (p.Gly532Val) | gnomAD v4 |
| 22 | g.50625194C>G | CA412166982 | ARSA | c.1481G>C (p.Gly494Ala) c.1223G>C (p.Gly408Ala) c.180+169G>C c.*214G>C (n.*214G>C) c.1595G>C (p.Gly532Ala) | |
| 22 | g.50625194C>T | CA412166997 | ARSA | c.1481G>A (p.Gly494Asp) c.1223G>A (p.Gly408Asp) c.180+169G>A c.*214G>A (n.*214G>A) c.1595G>A (p.Gly532Asp) | |
| 22 | g.50625195C>A | CA412167002 | ARSA | c.1480G>T (p.Gly494Cys) c.1222G>T (p.Gly408Cys) c.180+168G>T c.*213G>T (n.*213G>T) c.1594G>T (p.Gly532Cys) | gnomAD v4 |
| 22 | g.50625195C= | CA2410958356 | ARSA | c.1480G= (p.Gly494=) c.1222G= (p.Gly408=) c.180+168G= c.*213G= (n.*213G=) c.1594G= (p.Gly532=) | |
| 22 | g.50625195C>G | CA412167005 | ARSA | c.1480G>C (p.Gly494Arg) c.1222G>C (p.Gly408Arg) c.180+168G>C c.*213G>C (n.*213G>C) c.1594G>C (p.Gly532Arg) | |
| 22 | g.50625195C>T | CA325531161 | ARSA | c.1480G>A (p.Gly494Ser) c.1222G>A (p.Gly408Ser) c.180+168G>A c.*213G>A (n.*213G>A) c.1594G>A (p.Gly532Ser) | ClinVar dbSNP |
| 22 | g.50625196A>C | CA515390892 | ARSA | c.1479T>G (p.Pro493=) c.1221T>G (p.Pro407=) c.180+167T>G c.*212T>G (n.*212T>G) c.1593T>G (p.Pro531=) | |
| 22 | g.50625196A>G | CA515390893 | ARSA | c.1479T>C (p.Pro493=) c.1221T>C (p.Pro407=) c.180+167T>C c.*212T>C (n.*212T>C) c.1593T>C (p.Pro531=) | gnomAD v4 |
| 22 | g.50625196A>T | CA515390895 | ARSA | c.1479T>A (p.Pro493=) c.1221T>A (p.Pro407=) c.180+167T>A c.*212T>A (n.*212T>A) c.1593T>A (p.Pro531=) | |
| 22 | g.50625197G>A | CA412167013 | ARSA | c.1478C>T (p.Pro493Leu) c.1220C>T (p.Pro407Leu) c.180+166C>T c.*211C>T (n.*211C>T) c.1592C>T (p.Pro531Leu) | gnomAD v4 |
| 22 | g.50625197G>C | CA412167018 | ARSA | c.1478C>G (p.Pro493Arg) c.1220C>G (p.Pro407Arg) c.180+166C>G c.*211C>G (n.*211C>G) c.1592C>G (p.Pro531Arg) | gnomAD v4 |
| 22 | g.50625197G>T | CA412167024 | ARSA | c.1478C>A (p.Pro493His) c.1220C>A (p.Pro407His) c.180+166C>A c.*211C>A (n.*211C>A) c.1592C>A (p.Pro531His) | gnomAD v4 |
| 22 | g.50625198G>A | CA412167031 | ARSA | c.1477C>T (p.Pro493Ser) c.1219C>T (p.Pro407Ser) c.180+165C>T c.*210C>T (n.*210C>T) c.1591C>T (p.Pro531Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625198G>C | CA412167034 | ARSA | c.1477C>G (p.Pro493Ala) c.1219C>G (p.Pro407Ala) c.180+165C>G c.*210C>G (n.*210C>G) c.1591C>G (p.Pro531Ala) | |
| 22 | g.50625198G= | CA2410958357 | ARSA | c.1477C= (p.Pro493=) c.1219C= (p.Pro407=) c.180+165C= c.*210C= (n.*210C=) c.1591C= (p.Pro531=) | |
| 22 | g.50625198G>T | CA412167036 | ARSA | c.1477C>A (p.Pro493Thr) c.1219C>A (p.Pro407Thr) c.180+165C>A c.*210C>A (n.*210C>A) c.1591C>A (p.Pro531Thr) | |
| 22 | g.50625199A>C | CA412167041 | ARSA | c.1476T>G (p.His492Gln) c.1218T>G (p.His406Gln) c.180+164T>G c.*209T>G (n.*209T>G) c.1590T>G (p.His530Gln) | |
| 22 | g.50625199A>G | CA515390900 | ARSA | c.1476T>C (p.His492=) c.1218T>C (p.His406=) c.180+164T>C c.*209T>C (n.*209T>C) c.1590T>C (p.His530=) |