| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23354987T>A | CA387547513 | SACS | c.1625A>T (p.Lys542Met) n.1763A>T c.1616A>T (p.Lys539Met) n.3982A>T c.-626A>T (n.-626A>T) c.497A>T (p.Lys166Met) c.1323A>T c.1184A>T (p.Lys395Met) c.1649A>T (p.Lys550Met) | |
| 13 | g.23354987T>C | CA387547511 | SACS | c.1625A>G (p.Lys542Arg) n.1763A>G c.1616A>G (p.Lys539Arg) n.3982A>G c.-626A>G (n.-626A>G) c.497A>G (p.Lys166Arg) c.1323A>G c.1184A>G (p.Lys395Arg) c.1649A>G (p.Lys550Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23354987T>G | CA387547509 | SACS | c.1625A>C (p.Lys542Thr) n.1763A>C c.1616A>C (p.Lys539Thr) n.3982A>C c.-626A>C (n.-626A>C) c.497A>C (p.Lys166Thr) c.1323A>C c.1184A>C (p.Lys395Thr) c.1649A>C (p.Lys550Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354987T= | CA2078658100 | SACS | c.1625A= (p.Lys542=) n.1763A= c.1616A= (p.Lys539=) n.3982A= c.-626A= (n.-626A=) c.497A= (p.Lys166=) c.1323A= c.1184A= (p.Lys395=) c.1649A= (p.Lys550=) | |
| 13 | g.23354988T>A | CA387547515 | SACS | c.1624A>T (p.Lys542Ter) n.1762A>T c.1615A>T (p.Lys539Ter) n.3981A>T c.-627A>T (n.-627A>T) c.496A>T (p.Lys166Ter) c.1322A>T c.1183A>T (p.Lys395Ter) c.1648A>T (p.Lys550Ter) | |
| 13 | g.23354988T>C | CA387547517 | SACS | c.1624A>G (p.Lys542Glu) n.1762A>G c.1615A>G (p.Lys539Glu) n.3981A>G c.-627A>G (n.-627A>G) c.496A>G (p.Lys166Glu) c.1322A>G c.1183A>G (p.Lys395Glu) c.1648A>G (p.Lys550Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23354988T>G | CA387547519 | SACS | c.1624A>C (p.Lys542Gln) n.1762A>C c.1615A>C (p.Lys539Gln) n.3981A>C c.-627A>C (n.-627A>C) c.496A>C (p.Lys166Gln) c.1322A>C c.1183A>C (p.Lys395Gln) c.1648A>C (p.Lys550Gln) | |
| 13 | g.23354988T= | CA2078658104 | SACS | c.1624A= (p.Lys542=) n.1762A= c.1615A= (p.Lys539=) n.3981A= c.-627A= (n.-627A=) c.496A= (p.Lys166=) c.1322A= c.1183A= (p.Lys395=) c.1648A= (p.Lys550=) | |
| 13 | g.23354989G>A | CA483164052 | SACS | c.1623C>T (p.Val541=) n.1761C>T c.1614C>T (p.Val538=) n.3980C>T c.-628C>T (n.-628C>T) c.495C>T (p.Val165=) c.1321C>T c.1182C>T (p.Val394=) c.1647C>T (p.Val549=) | |
| 13 | g.23354989G>C | CA483164053 | SACS | c.1623C>G (p.Val541=) n.1761C>G c.1614C>G (p.Val538=) n.3980C>G c.-628C>G (n.-628C>G) c.495C>G (p.Val165=) c.1321C>G c.1182C>G (p.Val394=) c.1647C>G (p.Val549=) | |
| 13 | g.23354989G>T | CA483164054 | SACS | c.1623C>A (p.Val541=) n.1761C>A c.1614C>A (p.Val538=) n.3980C>A c.-628C>A (n.-628C>A) c.495C>A (p.Val165=) c.1321C>A c.1182C>A (p.Val394=) c.1647C>A (p.Val549=) | |
| 13 | g.23354990A>C | CA387547521 | SACS | c.1622T>G (p.Val541Gly) n.1760T>G c.1613T>G (p.Val538Gly) n.3979T>G c.-629T>G (n.-629T>G) c.494T>G (p.Val165Gly) c.1320T>G c.1181T>G (p.Val394Gly) c.1646T>G (p.Val549Gly) | |
| 13 | g.23354990A>G | CA387547523 | SACS | c.1622T>C (p.Val541Ala) n.1760T>C c.1613T>C (p.Val538Ala) n.3979T>C c.-629T>C (n.-629T>C) c.494T>C (p.Val165Ala) c.1320T>C c.1181T>C (p.Val394Ala) c.1646T>C (p.Val549Ala) | |
| 13 | g.23354990A>T | CA387547524 | SACS | c.1622T>A (p.Val541Asp) n.1760T>A c.1613T>A (p.Val538Asp) n.3979T>A c.-629T>A (n.-629T>A) c.494T>A (p.Val165Asp) c.1320T>A c.1181T>A (p.Val394Asp) c.1646T>A (p.Val549Asp) | |
| 13 | g.23354991C>A | CA387547527 | SACS | c.1621G>T (p.Val541Phe) n.1759G>T c.1612G>T (p.Val538Phe) n.3978G>T c.-630G>T (n.-630G>T) c.493G>T (p.Val165Phe) c.1319G>T c.1180G>T (p.Val394Phe) c.1645G>T (p.Val549Phe) | |
| 13 | g.23354991C>G | CA387547530 | SACS | c.1621G>C (p.Val541Leu) n.1759G>C c.1612G>C (p.Val538Leu) n.3978G>C c.-630G>C (n.-630G>C) c.493G>C (p.Val165Leu) c.1319G>C c.1180G>C (p.Val394Leu) c.1645G>C (p.Val549Leu) | |
| 13 | g.23354991C>T | CA387547532 | SACS | c.1621G>A (p.Val541Ile) n.1759G>A c.1612G>A (p.Val538Ile) n.3978G>A c.-630G>A (n.-630G>A) c.493G>A (p.Val165Ile) c.1319G>A c.1180G>A (p.Val394Ile) c.1645G>A (p.Val549Ile) | |
| 13 | g.23354992T>A | CA387547534 | SACS | c.1620A>T (p.Lys540Asn) n.1758A>T c.1611A>T (p.Lys537Asn) n.3977A>T c.-631A>T (n.-631A>T) c.492A>T (p.Lys164Asn) c.1318A>T c.1179A>T (p.Lys393Asn) c.1644A>T (p.Lys548Asn) | |
| 13 | g.23354992T>C | CA6911883 | SACS | c.1620A>G (p.Lys540=) n.1758A>G c.1611A>G (p.Lys537=) n.3977A>G c.-631A>G (n.-631A>G) c.492A>G (p.Lys164=) c.1318A>G c.1179A>G (p.Lys393=) c.1644A>G (p.Lys548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23354992T>G | CA387547536 | SACS | c.1620A>C (p.Lys540Asn) n.1758A>C c.1611A>C (p.Lys537Asn) n.3977A>C c.-631A>C (n.-631A>C) c.492A>C (p.Lys164Asn) c.1318A>C c.1179A>C (p.Lys393Asn) c.1644A>C (p.Lys548Asn) | |
| 13 | g.23354992T= | CA2078658107 | SACS | c.1620A= (p.Lys540=) n.1758A= c.1611A= (p.Lys537=) n.3977A= c.-631A= (n.-631A=) c.492A= (p.Lys164=) c.1318A= c.1179A= (p.Lys393=) c.1644A= (p.Lys548=) | |
| 13 | g.23354994del | CA2697551677 | SACS | c.1620del (p.Val541SerfsTer9) n.1758del c.1611del (p.Val538SerfsTer9) n.3977del c.-631del (n.-631del) c.492del (p.Val165SerfsTer9) c.1318del c.1179del (p.Val394SerfsTer9) c.1644del (p.Val549SerfsTer9) | ClinVar |
| 13 | g.23354993T>A | CA387547544 | SACS | c.1619A>T (p.Lys540Ile) n.1757A>T c.1610A>T (p.Lys537Ile) n.3976A>T c.-632A>T (n.-632A>T) c.491A>T (p.Lys164Ile) c.1317A>T c.1178A>T (p.Lys393Ile) c.1643A>T (p.Lys548Ile) | |
| 13 | g.23354993T>C | CA387547542 | SACS | c.1619A>G (p.Lys540Arg) n.1757A>G c.1610A>G (p.Lys537Arg) n.3976A>G c.-632A>G (n.-632A>G) c.491A>G (p.Lys164Arg) c.1317A>G c.1178A>G (p.Lys393Arg) c.1643A>G (p.Lys548Arg) | |
| 13 | g.23354993T>G | CA387547540 | SACS | c.1619A>C (p.Lys540Thr) n.1757A>C c.1610A>C (p.Lys537Thr) n.3976A>C c.-632A>C (n.-632A>C) c.491A>C (p.Lys164Thr) c.1317A>C c.1178A>C (p.Lys393Thr) c.1643A>C (p.Lys548Thr) | |
| 13 | g.23354994T>A | CA387547551 | SACS | c.1618A>T (p.Lys540Ter) n.1756A>T c.1609A>T (p.Lys537Ter) n.3975A>T c.-633A>T (n.-633A>T) c.490A>T (p.Lys164Ter) c.1316A>T c.1177A>T (p.Lys393Ter) c.1642A>T (p.Lys548Ter) | |
| 13 | g.23354994T>C | CA387547546 | SACS | c.1618A>G (p.Lys540Glu) n.1756A>G c.1609A>G (p.Lys537Glu) n.3975A>G c.-633A>G (n.-633A>G) c.490A>G (p.Lys164Glu) c.1316A>G c.1177A>G (p.Lys393Glu) c.1642A>G (p.Lys548Glu) | COSMIC COSMIC |
| 13 | g.23354994T>G | CA387547549 | SACS | c.1618A>C (p.Lys540Gln) n.1756A>C c.1609A>C (p.Lys537Gln) n.3975A>C c.-633A>C (n.-633A>C) c.490A>C (p.Lys164Gln) c.1316A>C c.1177A>C (p.Lys393Gln) c.1642A>C (p.Lys548Gln) | |
| 13 | g.23354995G>A | CA483164055 | SACS | c.1617C>T (p.Ser539=) n.1755C>T c.1608C>T (p.Ser536=) n.3974C>T c.-634C>T (n.-634C>T) c.489C>T (p.Ser163=) c.1315C>T c.1176C>T (p.Ser392=) c.1641C>T (p.Ser547=) | ClinVar |
| 13 | g.23354995G>C | CA387547553 | SACS | c.1617C>G (p.Ser539Arg) n.1755C>G c.1608C>G (p.Ser536Arg) n.3974C>G c.-634C>G (n.-634C>G) c.489C>G (p.Ser163Arg) c.1315C>G c.1176C>G (p.Ser392Arg) c.1641C>G (p.Ser547Arg) | |
| 13 | g.23354995G>T | CA387547555 | SACS | c.1617C>A (p.Ser539Arg) n.1755C>A c.1608C>A (p.Ser536Arg) n.3974C>A c.-634C>A (n.-634C>A) c.489C>A (p.Ser163Arg) c.1315C>A c.1176C>A (p.Ser392Arg) c.1641C>A (p.Ser547Arg) | |
| 13 | g.23354996C>A | CA387547558 | SACS | c.1616G>T (p.Ser539Ile) n.1754G>T c.1607G>T (p.Ser536Ile) n.3973G>T c.-635G>T (n.-635G>T) c.488G>T (p.Ser163Ile) c.1314G>T c.1175G>T (p.Ser392Ile) c.1640G>T (p.Ser547Ile) | |
| 13 | g.23354996C>G | CA387547560 | SACS | c.1616G>C (p.Ser539Thr) n.1754G>C c.1607G>C (p.Ser536Thr) n.3973G>C c.-635G>C (n.-635G>C) c.488G>C (p.Ser163Thr) c.1314G>C c.1175G>C (p.Ser392Thr) c.1640G>C (p.Ser547Thr) | |
| 13 | g.23354996C>T | CA387547562 | SACS | c.1616G>A (p.Ser539Asn) n.1754G>A c.1607G>A (p.Ser536Asn) n.3973G>A c.-635G>A (n.-635G>A) c.488G>A (p.Ser163Asn) c.1314G>A c.1175G>A (p.Ser392Asn) c.1640G>A (p.Ser547Asn) | |
| 13 | g.23354997T>A | CA387547563 | SACS | c.1615A>T (p.Ser539Cys) n.1753A>T c.1606A>T (p.Ser536Cys) n.3972A>T c.-636A>T (n.-636A>T) c.487A>T (p.Ser163Cys) c.1313A>T c.1174A>T (p.Ser392Cys) c.1639A>T (p.Ser547Cys) | |
| 13 | g.23354997T>C | CA387547565 | SACS | c.1615A>G (p.Ser539Gly) n.1753A>G c.1606A>G (p.Ser536Gly) n.3972A>G c.-636A>G (n.-636A>G) c.487A>G (p.Ser163Gly) c.1313A>G c.1174A>G (p.Ser392Gly) c.1639A>G (p.Ser547Gly) | |
| 13 | g.23354997T>G | CA387547567 | SACS | c.1615A>C (p.Ser539Arg) n.1753A>C c.1606A>C (p.Ser536Arg) n.3972A>C c.-636A>C (n.-636A>C) c.487A>C (p.Ser163Arg) c.1313A>C c.1174A>C (p.Ser392Arg) c.1639A>C (p.Ser547Arg) | |
| 13 | g.23354998C>A | CA483164056 | SACS | c.1614G>T (p.Ala538=) n.1752G>T c.1605G>T (p.Ala535=) n.3971G>T c.-637G>T (n.-637G>T) c.486G>T (p.Ala162=) c.1312G>T c.1173G>T (p.Ala391=) c.1638G>T (p.Ala546=) | gnomAD v4 |
| 13 | g.23354998C= | CA2078658109 | SACS | c.1614G= (p.Ala538=) n.1752G= c.1605G= (p.Ala535=) n.3971G= c.-637G= (n.-637G=) c.486G= (p.Ala162=) c.1312G= c.1173G= (p.Ala391=) c.1638G= (p.Ala546=) | |
| 13 | g.23354998C>G | CA483164057 | SACS | c.1614G>C (p.Ala538=) n.1752G>C c.1605G>C (p.Ala535=) n.3971G>C c.-637G>C (n.-637G>C) c.486G>C (p.Ala162=) c.1312G>C c.1173G>C (p.Ala391=) c.1638G>C (p.Ala546=) | |
| 13 | g.23354998C>T | CA483164058 | SACS | c.1614G>A (p.Ala538=) n.1752G>A c.1605G>A (p.Ala535=) n.3971G>A c.-637G>A (n.-637G>A) c.486G>A (p.Ala162=) c.1312G>A c.1173G>A (p.Ala391=) c.1638G>A (p.Ala546=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354999G>A | CA6911884 | SACS | c.1613C>T (p.Ala538Val) n.1751C>T c.1604C>T (p.Ala535Val) n.3970C>T c.-638C>T (n.-638C>T) c.485C>T (p.Ala162Val) c.1311C>T c.1172C>T (p.Ala391Val) c.1637C>T (p.Ala546Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23354999G>C | CA387547569 | SACS | c.1613C>G (p.Ala538Gly) n.1751C>G c.1604C>G (p.Ala535Gly) n.3970C>G c.-638C>G (n.-638C>G) c.485C>G (p.Ala162Gly) c.1311C>G c.1172C>G (p.Ala391Gly) c.1637C>G (p.Ala546Gly) | |
| 13 | g.23354999G= | CA2078658111 | SACS | c.1613C= (p.Ala538=) n.1751C= c.1604C= (p.Ala535=) n.3970C= c.-638C= (n.-638C=) c.485C= (p.Ala162=) c.1311C= c.1172C= (p.Ala391=) c.1637C= (p.Ala546=) | |
| 13 | g.23354999G>T | CA387547571 | SACS | c.1613C>A (p.Ala538Glu) n.1751C>A c.1604C>A (p.Ala535Glu) n.3970C>A c.-638C>A (n.-638C>A) c.485C>A (p.Ala162Glu) c.1311C>A c.1172C>A (p.Ala391Glu) c.1637C>A (p.Ala546Glu) | |
| 13 | g.23355000C>A | CA387547577 | SACS | c.1612G>T (p.Ala538Ser) n.1750G>T c.1603G>T (p.Ala535Ser) n.3969G>T c.-639G>T (n.-639G>T) c.484G>T (p.Ala162Ser) c.1310G>T c.1171G>T (p.Ala391Ser) c.1636G>T (p.Ala546Ser) | |
| 13 | g.23355000C>G | CA387547574 | SACS | c.1612G>C (p.Ala538Pro) n.1750G>C c.1603G>C (p.Ala535Pro) n.3969G>C c.-639G>C (n.-639G>C) c.484G>C (p.Ala162Pro) c.1310G>C c.1171G>C (p.Ala391Pro) c.1636G>C (p.Ala546Pro) | |
| 13 | g.23355000C>T | CA387547576 | SACS | c.1612G>A (p.Ala538Thr) n.1750G>A c.1603G>A (p.Ala535Thr) n.3969G>A c.-639G>A (n.-639G>A) c.484G>A (p.Ala162Thr) c.1310G>A c.1171G>A (p.Ala391Thr) c.1636G>A (p.Ala546Thr) | |
| 13 | g.23355001C>A | CA387547580 | SACS | c.1611G>T (p.Glu537Asp) n.1749G>T c.1602G>T (p.Glu534Asp) n.3968G>T c.-640G>T (n.-640G>T) c.483G>T (p.Glu161Asp) c.1309G>T c.1170G>T (p.Glu390Asp) c.1635G>T (p.Glu545Asp) | |
| 13 | g.23355001C>G | CA387547582 | SACS | c.1611G>C (p.Glu537Asp) n.1749G>C c.1602G>C (p.Glu534Asp) n.3968G>C c.-640G>C (n.-640G>C) c.483G>C (p.Glu161Asp) c.1309G>C c.1170G>C (p.Glu390Asp) c.1635G>C (p.Glu545Asp) | |
| 13 | g.23355001C>T | CA483164059 | SACS | c.1611G>A (p.Glu537=) n.1749G>A c.1602G>A (p.Glu534=) n.3968G>A c.-640G>A (n.-640G>A) c.483G>A (p.Glu161=) c.1309G>A c.1170G>A (p.Glu390=) c.1635G>A (p.Glu545=) | gnomAD v4 |
| 13 | g.23355002T>A | CA387547584 | SACS | c.1610A>T (p.Glu537Val) n.1748A>T c.1601A>T (p.Glu534Val) n.3967A>T c.-641A>T (n.-641A>T) c.482A>T (p.Glu161Val) c.1308A>T c.1169A>T (p.Glu390Val) c.1634A>T (p.Glu545Val) | |
| 13 | g.23355002T>C | CA387547586 | SACS | c.1610A>G (p.Glu537Gly) n.1748A>G c.1601A>G (p.Glu534Gly) n.3967A>G c.-641A>G (n.-641A>G) c.482A>G (p.Glu161Gly) c.1308A>G c.1169A>G (p.Glu390Gly) c.1634A>G (p.Glu545Gly) | |
| 13 | g.23355002T>G | CA387547588 | SACS | c.1610A>C (p.Glu537Ala) n.1748A>C c.1601A>C (p.Glu534Ala) n.3967A>C c.-641A>C (n.-641A>C) c.482A>C (p.Glu161Ala) c.1308A>C c.1169A>C (p.Glu390Ala) c.1634A>C (p.Glu545Ala) | |
| 13 | g.23355003C>A | CA387547591 | SACS | c.1609G>T (p.Glu537Ter) n.1747G>T c.1600G>T (p.Glu534Ter) n.3966G>T c.-642G>T (n.-642G>T) c.481G>T (p.Glu161Ter) c.1307G>T c.1168G>T (p.Glu390Ter) c.1633G>T (p.Glu545Ter) | |
| 13 | g.23355003C>G | CA387547593 | SACS | c.1609G>C (p.Glu537Gln) n.1747G>C c.1600G>C (p.Glu534Gln) n.3966G>C c.-642G>C (n.-642G>C) c.481G>C (p.Glu161Gln) c.1307G>C c.1168G>C (p.Glu390Gln) c.1633G>C (p.Glu545Gln) | |
| 13 | g.23355003C>T | CA387547595 | SACS | c.1609G>A (p.Glu537Lys) n.1747G>A c.1600G>A (p.Glu534Lys) n.3966G>A c.-642G>A (n.-642G>A) c.481G>A (p.Glu161Lys) c.1307G>A c.1168G>A (p.Glu390Lys) c.1633G>A (p.Glu545Lys) | |
| 13 | g.23355004C>A | CA483164060 | SACS | c.1608G>T (p.Pro536=) n.1746G>T c.1599G>T (p.Pro533=) n.3965G>T c.-643G>T (n.-643G>T) c.480G>T (p.Pro160=) c.1306G>T c.1167G>T (p.Pro389=) c.1632G>T (p.Pro544=) | |
| 13 | g.23355004C= | CA2078658115 | SACS | c.1608G= (p.Pro536=) n.1746G= c.1599G= (p.Pro533=) n.3965G= c.-643G= (n.-643G=) c.480G= (p.Pro160=) c.1306G= c.1167G= (p.Pro389=) c.1632G= (p.Pro544=) | |
| 13 | g.23355004C>G | CA483164061 | SACS | c.1608G>C (p.Pro536=) n.1746G>C c.1599G>C (p.Pro533=) n.3965G>C c.-643G>C (n.-643G>C) c.480G>C (p.Pro160=) c.1306G>C c.1167G>C (p.Pro389=) c.1632G>C (p.Pro544=) | |
| 13 | g.23355004C>T | CA6911885 | SACS | c.1608G>A (p.Pro536=) n.1746G>A c.1599G>A (p.Pro533=) n.3965G>A c.-643G>A (n.-643G>A) c.480G>A (p.Pro160=) c.1306G>A c.1167G>A (p.Pro389=) c.1632G>A (p.Pro544=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.23355005G>A | CA387547599 | SACS | c.1607C>T (p.Pro536Leu) n.1745C>T c.1598C>T (p.Pro533Leu) n.3964C>T c.-644C>T (n.-644C>T) c.479C>T (p.Pro160Leu) c.1305C>T c.1166C>T (p.Pro389Leu) c.1631C>T (p.Pro544Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355005G>C | CA387547601 | SACS | c.1607C>G (p.Pro536Arg) n.1745C>G c.1598C>G (p.Pro533Arg) n.3964C>G c.-644C>G (n.-644C>G) c.479C>G (p.Pro160Arg) c.1305C>G c.1166C>G (p.Pro389Arg) c.1631C>G (p.Pro544Arg) | gnomAD v4 |
| 13 | g.23355005G= | CA2078658118 | SACS | c.1607C= (p.Pro536=) n.1745C= c.1598C= (p.Pro533=) n.3964C= c.-644C= (n.-644C=) c.479C= (p.Pro160=) c.1305C= c.1166C= (p.Pro389=) c.1631C= (p.Pro544=) | |
| 13 | g.23355005G>T | CA387547603 | SACS | c.1607C>A (p.Pro536Gln) n.1745C>A c.1598C>A (p.Pro533Gln) n.3964C>A c.-644C>A (n.-644C>A) c.479C>A (p.Pro160Gln) c.1305C>A c.1166C>A (p.Pro389Gln) c.1631C>A (p.Pro544Gln) | |
| 13 | g.23355006G>A | CA387547612 | SACS | c.1606C>T (p.Pro536Ser) n.1744C>T c.1597C>T (p.Pro533Ser) n.3963C>T c.-645C>T (n.-645C>T) c.478C>T (p.Pro160Ser) c.1304C>T c.1165C>T (p.Pro389Ser) c.1630C>T (p.Pro544Ser) | |
| 13 | g.23355006G>C | CA387547614 | SACS | c.1606C>G (p.Pro536Ala) n.1744C>G c.1597C>G (p.Pro533Ala) n.3963C>G c.-645C>G (n.-645C>G) c.478C>G (p.Pro160Ala) c.1304C>G c.1165C>G (p.Pro389Ala) c.1630C>G (p.Pro544Ala) | |
| 13 | g.23355006G>T | CA387547610 | SACS | c.1606C>A (p.Pro536Thr) n.1744C>A c.1597C>A (p.Pro533Thr) n.3963C>A c.-645C>A (n.-645C>A) c.478C>A (p.Pro160Thr) c.1304C>A c.1165C>A (p.Pro389Thr) c.1630C>A (p.Pro544Thr) | |
| 13 | g.23355007C>A | CA387547617 | SACS | c.1605G>T (p.Trp535Cys) n.1743G>T c.1596G>T (p.Trp532Cys) n.3962G>T c.-646G>T (n.-646G>T) c.477G>T (p.Trp159Cys) c.1303G>T c.1164G>T (p.Trp388Cys) c.1629G>T (p.Trp543Cys) | |
| 13 | g.23355007C>G | CA387547621 | SACS | c.1605G>C (p.Trp535Cys) n.1743G>C c.1596G>C (p.Trp532Cys) n.3962G>C c.-646G>C (n.-646G>C) c.477G>C (p.Trp159Cys) c.1303G>C c.1164G>C (p.Trp388Cys) c.1629G>C (p.Trp543Cys) | |
| 13 | g.23355007C>T | CA387547619 | SACS | c.1605G>A (p.Trp535Ter) n.1743G>A c.1596G>A (p.Trp532Ter) n.3962G>A c.-646G>A (n.-646G>A) c.477G>A (p.Trp159Ter) c.1303G>A c.1164G>A (p.Trp388Ter) c.1629G>A (p.Trp543Ter) | |
| 13 | g.23355008C>A | CA387547623 | SACS | c.1604G>T (p.Trp535Leu) n.1742G>T c.1595G>T (p.Trp532Leu) n.3961G>T c.-647G>T (n.-647G>T) c.476G>T (p.Trp159Leu) c.1302G>T c.1163G>T (p.Trp388Leu) c.1628G>T (p.Trp543Leu) | |
| 13 | g.23355008C>G | CA387547627 | SACS | c.1604G>C (p.Trp535Ser) n.1742G>C c.1595G>C (p.Trp532Ser) n.3961G>C c.-647G>C (n.-647G>C) c.476G>C (p.Trp159Ser) c.1302G>C c.1163G>C (p.Trp388Ser) c.1628G>C (p.Trp543Ser) | |
| 13 | g.23355008C>T | CA387547625 | SACS | c.1604G>A (p.Trp535Ter) n.1742G>A c.1595G>A (p.Trp532Ter) n.3961G>A c.-647G>A (n.-647G>A) c.476G>A (p.Trp159Ter) c.1302G>A c.1163G>A (p.Trp388Ter) c.1628G>A (p.Trp543Ter) | gnomAD v4 |
| 13 | g.23355009A>C | CA387547629 | SACS | c.1603T>G (p.Trp535Gly) n.1741T>G c.1594T>G (p.Trp532Gly) n.3960T>G c.-648T>G (n.-648T>G) c.475T>G (p.Trp159Gly) c.1301T>G c.1162T>G (p.Trp388Gly) c.1627T>G (p.Trp543Gly) | |
| 13 | g.23355009A>G | CA387547631 | SACS | c.1603T>C (p.Trp535Arg) n.1741T>C c.1594T>C (p.Trp532Arg) n.3960T>C c.-648T>C (n.-648T>C) c.475T>C (p.Trp159Arg) c.1301T>C c.1162T>C (p.Trp388Arg) c.1627T>C (p.Trp543Arg) | |
| 13 | g.23355009A>T | CA387547633 | SACS | c.1603T>A (p.Trp535Arg) n.1741T>A c.1594T>A (p.Trp532Arg) n.3960T>A c.-648T>A (n.-648T>A) c.475T>A (p.Trp159Arg) c.1301T>A c.1162T>A (p.Trp388Arg) c.1627T>A (p.Trp543Arg) | |
| 13 | g.23355010A= | CA2078658120 | SACS | c.1602T= (p.Leu534=) n.1740T= c.1593T= (p.Leu531=) n.3959T= c.-649T= (n.-649T=) c.474T= (p.Leu158=) c.1300T= c.1161T= (p.Leu387=) c.1626T= (p.Leu542=) | |
| 13 | g.23355010A>C | CA483164062 | SACS | c.1602T>G (p.Leu534=) n.1740T>G c.1593T>G (p.Leu531=) n.3959T>G c.-649T>G (n.-649T>G) c.474T>G (p.Leu158=) c.1300T>G c.1161T>G (p.Leu387=) c.1626T>G (p.Leu542=) | |
| 13 | g.23355010A>G | CA6911886 | SACS | c.1602T>C (p.Leu534=) n.1740T>C c.1593T>C (p.Leu531=) n.3959T>C c.-649T>C (n.-649T>C) c.474T>C (p.Leu158=) c.1300T>C c.1161T>C (p.Leu387=) c.1626T>C (p.Leu542=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355010A>T | CA483164063 | SACS | c.1602T>A (p.Leu534=) n.1740T>A c.1593T>A (p.Leu531=) n.3959T>A c.-649T>A (n.-649T>A) c.474T>A (p.Leu158=) c.1300T>A c.1161T>A (p.Leu387=) c.1626T>A (p.Leu542=) | |
| 13 | g.23355011A>C | CA387547639 | SACS | c.1601T>G (p.Leu534Arg) n.1739T>G c.1592T>G (p.Leu531Arg) n.3958T>G c.-650T>G (n.-650T>G) c.473T>G (p.Leu158Arg) c.1299T>G c.1160T>G (p.Leu387Arg) c.1625T>G (p.Leu542Arg) | |
| 13 | g.23355011A>G | CA387547642 | SACS | c.1601T>C (p.Leu534Pro) n.1739T>C c.1592T>C (p.Leu531Pro) n.3958T>C c.-650T>C (n.-650T>C) c.473T>C (p.Leu158Pro) c.1299T>C c.1160T>C (p.Leu387Pro) c.1625T>C (p.Leu542Pro) | |
| 13 | g.23355011A>T | CA387547644 | SACS | c.1601T>A (p.Leu534His) n.1739T>A c.1592T>A (p.Leu531His) n.3958T>A c.-650T>A (n.-650T>A) c.473T>A (p.Leu158His) c.1299T>A c.1160T>A (p.Leu387His) c.1625T>A (p.Leu542His) | |
| 13 | g.23355012G>A | CA387547647 | SACS | c.1600C>T (p.Leu534Phe) n.1738C>T c.1591C>T (p.Leu531Phe) n.3957C>T c.-651C>T (n.-651C>T) c.472C>T (p.Leu158Phe) c.1298C>T c.1159C>T (p.Leu387Phe) c.1624C>T (p.Leu542Phe) | |
| 13 | g.23355012G>C | CA6911887 | SACS | c.1600C>G (p.Leu534Val) n.1738C>G c.1591C>G (p.Leu531Val) n.3957C>G c.-651C>G (n.-651C>G) c.472C>G (p.Leu158Val) c.1298C>G c.1159C>G (p.Leu387Val) c.1624C>G (p.Leu542Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355012G= | CA2078658123 | SACS | c.1600C= (p.Leu534=) n.1738C= c.1591C= (p.Leu531=) n.3957C= c.-651C= (n.-651C=) c.472C= (p.Leu158=) c.1298C= c.1159C= (p.Leu387=) c.1624C= (p.Leu542=) | |
| 13 | g.23355012G>T | CA387547649 | SACS | c.1600C>A (p.Leu534Ile) n.1738C>A c.1591C>A (p.Leu531Ile) n.3957C>A c.-651C>A (n.-651C>A) c.472C>A (p.Leu158Ile) c.1298C>A c.1159C>A (p.Leu387Ile) c.1624C>A (p.Leu542Ile) | |
| 13 | g.23355013C>A | CA387547652 | SACS | c.1599G>T (p.Lys533Asn) n.1737G>T c.1590G>T (p.Lys530Asn) n.3956G>T c.-652G>T (n.-652G>T) c.471G>T (p.Lys157Asn) c.1297G>T c.1158G>T (p.Lys386Asn) c.1623G>T (p.Lys541Asn) | |
| 13 | g.23355013C>G | CA387547653 | SACS | c.1599G>C (p.Lys533Asn) n.1737G>C c.1590G>C (p.Lys530Asn) n.3956G>C c.-652G>C (n.-652G>C) c.471G>C (p.Lys157Asn) c.1297G>C c.1158G>C (p.Lys386Asn) c.1623G>C (p.Lys541Asn) | |
| 13 | g.23355013C>T | CA483164064 | SACS | c.1599G>A (p.Lys533=) n.1737G>A c.1590G>A (p.Lys530=) n.3956G>A c.-652G>A (n.-652G>A) c.471G>A (p.Lys157=) c.1297G>A c.1158G>A (p.Lys386=) c.1623G>A (p.Lys541=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355014T>A | CA387547661 | SACS | c.1598A>T (p.Lys533Met) n.1736A>T c.1589A>T (p.Lys530Met) n.3955A>T c.-653A>T (n.-653A>T) c.470A>T (p.Lys157Met) c.1296A>T c.1157A>T (p.Lys386Met) c.1622A>T (p.Lys541Met) | |
| 13 | g.23355014T>C | CA387547658 | SACS | c.1598A>G (p.Lys533Arg) n.1736A>G c.1589A>G (p.Lys530Arg) n.3955A>G c.-653A>G (n.-653A>G) c.470A>G (p.Lys157Arg) c.1296A>G c.1157A>G (p.Lys386Arg) c.1622A>G (p.Lys541Arg) | |
| 13 | g.23355014T>G | CA387547657 | SACS | c.1598A>C (p.Lys533Thr) n.1736A>C c.1589A>C (p.Lys530Thr) n.3955A>C c.-653A>C (n.-653A>C) c.470A>C (p.Lys157Thr) c.1296A>C c.1157A>C (p.Lys386Thr) c.1622A>C (p.Lys541Thr) | |
| 13 | g.23355015T>A | CA387547663 | SACS | c.1597A>T (p.Lys533Ter) n.1735A>T c.1588A>T (p.Lys530Ter) n.3954A>T c.-654A>T (n.-654A>T) c.469A>T (p.Lys157Ter) c.1295A>T c.1156A>T (p.Lys386Ter) c.1621A>T (p.Lys541Ter) | |
| 13 | g.23355015T>C | CA6911888 | SACS | c.1597A>G (p.Lys533Glu) n.1735A>G c.1588A>G (p.Lys530Glu) n.3954A>G c.-654A>G (n.-654A>G) c.469A>G (p.Lys157Glu) c.1295A>G c.1156A>G (p.Lys386Glu) c.1621A>G (p.Lys541Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355015T>G | CA387547666 | SACS | c.1597A>C (p.Lys533Gln) n.1735A>C c.1588A>C (p.Lys530Gln) n.3954A>C c.-654A>C (n.-654A>C) c.469A>C (p.Lys157Gln) c.1295A>C c.1156A>C (p.Lys386Gln) c.1621A>C (p.Lys541Gln) | |
| 13 | g.23355015T= | CA2078658125 | SACS | c.1597A= (p.Lys533=) n.1735A= c.1588A= (p.Lys530=) n.3954A= c.-654A= (n.-654A=) c.469A= (p.Lys157=) c.1295A= c.1156A= (p.Lys386=) c.1621A= (p.Lys541=) | |
| 13 | g.23355016A>C | CA387547668 | SACS | c.1596T>G (p.Tyr532Ter) n.1734T>G c.1587T>G (p.Tyr529Ter) n.3953T>G c.-655T>G (n.-655T>G) c.468T>G (p.Tyr156Ter) c.1294T>G c.1155T>G (p.Tyr385Ter) c.1620T>G (p.Tyr540Ter) | |
| 13 | g.23355016A>G | CA483164065 | SACS | c.1596T>C (p.Tyr532=) n.1734T>C c.1587T>C (p.Tyr529=) n.3953T>C c.-655T>C (n.-655T>C) c.468T>C (p.Tyr156=) c.1294T>C c.1155T>C (p.Tyr385=) c.1620T>C (p.Tyr540=) | |
| 13 | g.23355016A>T | CA387547670 | SACS | c.1596T>A (p.Tyr532Ter) n.1734T>A c.1587T>A (p.Tyr529Ter) n.3953T>A c.-655T>A (n.-655T>A) c.468T>A (p.Tyr156Ter) c.1294T>A c.1155T>A (p.Tyr385Ter) c.1620T>A (p.Tyr540Ter) | ClinVar dbSNP |
| 13 | g.23355017T>A | CA387547673 | SACS | c.1595A>T (p.Tyr532Phe) n.1733A>T c.1586A>T (p.Tyr529Phe) n.3952A>T c.-656A>T (n.-656A>T) c.467A>T (p.Tyr156Phe) c.1293A>T c.1154A>T (p.Tyr385Phe) c.1619A>T (p.Tyr540Phe) | |
| 13 | g.23355017T>C | CA387547674 | SACS | c.1595A>G (p.Tyr532Cys) n.1733A>G c.1586A>G (p.Tyr529Cys) n.3952A>G c.-656A>G (n.-656A>G) c.467A>G (p.Tyr156Cys) c.1293A>G c.1154A>G (p.Tyr385Cys) c.1619A>G (p.Tyr540Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23355017T>G | CA387547676 | SACS | c.1595A>C (p.Tyr532Ser) n.1733A>C c.1586A>C (p.Tyr529Ser) n.3952A>C c.-656A>C (n.-656A>C) c.467A>C (p.Tyr156Ser) c.1293A>C c.1154A>C (p.Tyr385Ser) c.1619A>C (p.Tyr540Ser) | |
| 13 | g.23355017T= | CA2078658127 | SACS | c.1595A= (p.Tyr532=) n.1733A= c.1586A= (p.Tyr529=) n.3952A= c.-656A= (n.-656A=) c.467A= (p.Tyr156=) c.1293A= c.1154A= (p.Tyr385=) c.1619A= (p.Tyr540=) | |
| 13 | g.23355018A>C | CA387547677 | SACS | c.1594T>G (p.Tyr532Asp) n.1732T>G c.1585T>G (p.Tyr529Asp) n.3951T>G c.-657T>G (n.-657T>G) c.466T>G (p.Tyr156Asp) c.1292T>G c.1153T>G (p.Tyr385Asp) c.1618T>G (p.Tyr540Asp) | |
| 13 | g.23355018A>G | CA387547679 | SACS | c.1594T>C (p.Tyr532His) n.1732T>C c.1585T>C (p.Tyr529His) n.3951T>C c.-657T>C (n.-657T>C) c.466T>C (p.Tyr156His) c.1292T>C c.1153T>C (p.Tyr385His) c.1618T>C (p.Tyr540His) | |
| 13 | g.23355018A>T | CA387547681 | SACS | c.1594T>A (p.Tyr532Asn) n.1732T>A c.1585T>A (p.Tyr529Asn) n.3951T>A c.-657T>A (n.-657T>A) c.466T>A (p.Tyr156Asn) c.1292T>A c.1153T>A (p.Tyr385Asn) c.1618T>A (p.Tyr540Asn) | |
| 13 | g.23355019G>A | CA6911889 | SACS | c.1593C>T (p.Ile531=) n.1731C>T c.1584C>T (p.Ile528=) n.3950C>T c.-658C>T (n.-658C>T) c.465C>T (p.Ile155=) c.1291C>T c.1152C>T (p.Ile384=) c.1617C>T (p.Ile539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355019G>C | CA387547682 | SACS | c.1593C>G (p.Ile531Met) n.1731C>G c.1584C>G (p.Ile528Met) n.3950C>G c.-658C>G (n.-658C>G) c.465C>G (p.Ile155Met) c.1291C>G c.1152C>G (p.Ile384Met) c.1617C>G (p.Ile539Met) | ClinVar dbSNP |
| 13 | g.23355019G= | CA2078658129 | SACS | c.1593C= (p.Ile531=) n.1731C= c.1584C= (p.Ile528=) n.3950C= c.-658C= (n.-658C=) c.465C= (p.Ile155=) c.1291C= c.1152C= (p.Ile384=) c.1617C= (p.Ile539=) | |
| 13 | g.23355019G>T | CA483164066 | SACS | c.1593C>A (p.Ile531=) n.1731C>A c.1584C>A (p.Ile528=) n.3950C>A c.-658C>A (n.-658C>A) c.465C>A (p.Ile155=) c.1291C>A c.1152C>A (p.Ile384=) c.1617C>A (p.Ile539=) | |
| 13 | g.23355020A= | CA2078658133 | SACS | c.1592T= (p.Ile531=) n.1730T= c.1583T= (p.Ile528=) n.3949T= c.-659T= (n.-659T=) c.464T= (p.Ile155=) c.1290T= c.1151T= (p.Ile384=) c.1616T= (p.Ile539=) | |
| 13 | g.23355020A>C | CA387547684 | SACS | c.1592T>G (p.Ile531Ser) n.1730T>G c.1583T>G (p.Ile528Ser) n.3949T>G c.-659T>G (n.-659T>G) c.464T>G (p.Ile155Ser) c.1290T>G c.1151T>G (p.Ile384Ser) c.1616T>G (p.Ile539Ser) | |
| 13 | g.23355020A>G | CA6911890 | SACS | c.1592T>C (p.Ile531Thr) n.1730T>C c.1583T>C (p.Ile528Thr) n.3949T>C c.-659T>C (n.-659T>C) c.464T>C (p.Ile155Thr) c.1290T>C c.1151T>C (p.Ile384Thr) c.1616T>C (p.Ile539Thr) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.23355020A>T | CA387547683 | SACS | c.1592T>A (p.Ile531Asn) n.1730T>A c.1583T>A (p.Ile528Asn) n.3949T>A c.-659T>A (n.-659T>A) c.464T>A (p.Ile155Asn) c.1290T>A c.1151T>A (p.Ile384Asn) c.1616T>A (p.Ile539Asn) | |
| 13 | g.23355020_23355021delinsAT | CA2078658135 | SACS | c.1591_1592delinsAT (p.Ile531=) n.1729_1730delinsAT c.1582_1583delinsAT (p.Ile528=) n.3948_3949delinsAT c.-660_-659delinsAT (n.-660_-659delinsAT) c.463_464delinsAT (p.Ile155=) c.1289_1290delinsAT c.1150_1151delinsAT (p.Ile384=) c.1615_1616delinsAT (p.Ile539=) | |
| 13 | g.23355021del | CA6911891 | SACS | c.1591del (p.Ile531SerfsTer19) n.1729del c.1582del (p.Ile528SerfsTer19) n.3948del c.-660del (n.-660del) c.463del (p.Ile155SerfsTer19) c.1289del c.1150del (p.Ile384SerfsTer19) c.1615del (p.Ile539SerfsTer19) | dbSNP ExAC gnomAD v2 |
| 13 | g.23355021T>A | CA387547685 | SACS | c.1591A>T (p.Ile531Phe) n.1729A>T c.1582A>T (p.Ile528Phe) n.3948A>T c.-660A>T (n.-660A>T) c.463A>T (p.Ile155Phe) c.1289A>T c.1150A>T (p.Ile384Phe) c.1615A>T (p.Ile539Phe) | |
| 13 | g.23355021T>C | CA387547686 | SACS | c.1591A>G (p.Ile531Val) n.1729A>G c.1582A>G (p.Ile528Val) n.3948A>G c.-660A>G (n.-660A>G) c.463A>G (p.Ile155Val) c.1289A>G c.1150A>G (p.Ile384Val) c.1615A>G (p.Ile539Val) | |
| 13 | g.23355021T>G | CA387547687 | SACS | c.1591A>C (p.Ile531Leu) n.1729A>C c.1582A>C (p.Ile528Leu) n.3948A>C c.-660A>C (n.-660A>C) c.463A>C (p.Ile155Leu) c.1289A>C c.1150A>C (p.Ile384Leu) c.1615A>C (p.Ile539Leu) | |
| 13 | g.23355022A>C | CA483164067 | SACS | c.1590T>G (p.Val530=) n.1728T>G c.1581T>G (p.Val527=) n.3947T>G c.-661T>G (n.-661T>G) c.462T>G (p.Val154=) c.1288T>G c.1149T>G (p.Val383=) c.1614T>G (p.Val538=) | |
| 13 | g.23355022A>G | CA483164069 | SACS | c.1590T>C (p.Val530=) n.1728T>C c.1581T>C (p.Val527=) n.3947T>C c.-661T>C (n.-661T>C) c.462T>C (p.Val154=) c.1288T>C c.1149T>C (p.Val383=) c.1614T>C (p.Val538=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355022A>T | CA483164068 | SACS | c.1590T>A (p.Val530=) n.1728T>A c.1581T>A (p.Val527=) n.3947T>A c.-661T>A (n.-661T>A) c.462T>A (p.Val154=) c.1288T>A c.1149T>A (p.Val383=) c.1614T>A (p.Val538=) | |
| 13 | g.23355023del | CA387547688 | SACS | c.1590del (p.Ile531SerfsTer19) n.1728del c.1581del (p.Ile528SerfsTer19) n.3947del c.-661del (n.-661del) c.462del (p.Ile155SerfsTer19) c.1288del c.1149del (p.Ile384SerfsTer19) c.1614del (p.Ile539SerfsTer19) | |
| 13 | g.23355023A= | CA2078658139 | SACS | c.1589T= (p.Val530=) n.1727T= c.1580T= (p.Val527=) n.3946T= c.-662T= (n.-662T=) c.461T= (p.Val154=) c.1287T= c.1148T= (p.Val383=) c.1613T= (p.Val538=) | |
| 13 | g.23355023A>C | CA387547689 | SACS | c.1589T>G (p.Val530Gly) n.1727T>G c.1580T>G (p.Val527Gly) n.3946T>G c.-662T>G (n.-662T>G) c.461T>G (p.Val154Gly) c.1287T>G c.1148T>G (p.Val383Gly) c.1613T>G (p.Val538Gly) | |
| 13 | g.23355023A>G | CA6911892 | SACS | c.1589T>C (p.Val530Ala) n.1727T>C c.1580T>C (p.Val527Ala) n.3946T>C c.-662T>C (n.-662T>C) c.461T>C (p.Val154Ala) c.1287T>C c.1148T>C (p.Val383Ala) c.1613T>C (p.Val538Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355023A>T | CA387547690 | SACS | c.1589T>A (p.Val530Asp) n.1727T>A c.1580T>A (p.Val527Asp) n.3946T>A c.-662T>A (n.-662T>A) c.461T>A (p.Val154Asp) c.1287T>A c.1148T>A (p.Val383Asp) c.1613T>A (p.Val538Asp) | |
| 13 | g.23355024C>A | CA387547691 | SACS | c.1588G>T (p.Val530Phe) n.1726G>T c.1579G>T (p.Val527Phe) n.3945G>T c.-663G>T (n.-663G>T) c.460G>T (p.Val154Phe) c.1286G>T c.1147G>T (p.Val383Phe) c.1612G>T (p.Val538Phe) | |
| 13 | g.23355024C= | CA2078658142 | SACS | c.1588G= (p.Val530=) n.1726G= c.1579G= (p.Val527=) n.3945G= c.-663G= (n.-663G=) c.460G= (p.Val154=) c.1286G= c.1147G= (p.Val383=) c.1612G= (p.Val538=) | |
| 13 | g.23355024C>G | CA387547692 | SACS | c.1588G>C (p.Val530Leu) n.1726G>C c.1579G>C (p.Val527Leu) n.3945G>C c.-663G>C (n.-663G>C) c.460G>C (p.Val154Leu) c.1286G>C c.1147G>C (p.Val383Leu) c.1612G>C (p.Val538Leu) | |
| 13 | g.23355024C>T | CA6911893 | SACS | c.1588G>A (p.Val530Ile) n.1726G>A c.1579G>A (p.Val527Ile) n.3945G>A c.-663G>A (n.-663G>A) c.460G>A (p.Val154Ile) c.1286G>A c.1147G>A (p.Val383Ile) c.1612G>A (p.Val538Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355025A>C | CA387547694 | SACS | c.1587T>G (p.Asp529Glu) n.1725T>G c.1578T>G (p.Asp526Glu) n.3944T>G c.-664T>G (n.-664T>G) c.459T>G (p.Asp153Glu) c.1285T>G c.1146T>G (p.Asp382Glu) c.1611T>G (p.Asp537Glu) | |
| 13 | g.23355025A>G | CA483164070 | SACS | c.1587T>C (p.Asp529=) n.1725T>C c.1578T>C (p.Asp526=) n.3944T>C c.-664T>C (n.-664T>C) c.459T>C (p.Asp153=) c.1285T>C c.1146T>C (p.Asp382=) c.1611T>C (p.Asp537=) | |
| 13 | g.23355025A>T | CA387547693 | SACS | c.1587T>A (p.Asp529Glu) n.1725T>A c.1578T>A (p.Asp526Glu) n.3944T>A c.-664T>A (n.-664T>A) c.459T>A (p.Asp153Glu) c.1285T>A c.1146T>A (p.Asp382Glu) c.1611T>A (p.Asp537Glu) | |
| 13 | g.23355026T>A | CA387547696 | SACS | c.1586A>T (p.Asp529Val) n.1724A>T c.1577A>T (p.Asp526Val) n.3943A>T c.-665A>T (n.-665A>T) c.458A>T (p.Asp153Val) c.1284A>T c.1145A>T (p.Asp382Val) c.1610A>T (p.Asp537Val) | |
| 13 | g.23355026T>C | CA387547698 | SACS | c.1586A>G (p.Asp529Gly) n.1724A>G c.1577A>G (p.Asp526Gly) n.3943A>G c.-665A>G (n.-665A>G) c.458A>G (p.Asp153Gly) c.1284A>G c.1145A>G (p.Asp382Gly) c.1610A>G (p.Asp537Gly) | |
| 13 | g.23355026T>G | CA387547700 | SACS | c.1586A>C (p.Asp529Ala) n.1724A>C c.1577A>C (p.Asp526Ala) n.3943A>C c.-665A>C (n.-665A>C) c.458A>C (p.Asp153Ala) c.1284A>C c.1145A>C (p.Asp382Ala) c.1610A>C (p.Asp537Ala) | |
| 13 | g.23355027C>A | CA387547702 | SACS | c.1585G>T (p.Asp529Tyr) n.1723G>T c.1576G>T (p.Asp526Tyr) n.3942G>T c.-666G>T (n.-666G>T) c.457G>T (p.Asp153Tyr) c.1283G>T c.1144G>T (p.Asp382Tyr) c.1609G>T (p.Asp537Tyr) | |
| 13 | g.23355027C>G | CA387547704 | SACS | c.1585G>C (p.Asp529His) n.1723G>C c.1576G>C (p.Asp526His) n.3942G>C c.-666G>C (n.-666G>C) c.457G>C (p.Asp153His) c.1283G>C c.1144G>C (p.Asp382His) c.1609G>C (p.Asp537His) | |
| 13 | g.23355027C>T | CA387547707 | SACS | c.1585G>A (p.Asp529Asn) n.1723G>A c.1576G>A (p.Asp526Asn) n.3942G>A c.-666G>A (n.-666G>A) c.457G>A (p.Asp153Asn) c.1283G>A c.1144G>A (p.Asp382Asn) c.1609G>A (p.Asp537Asn) | |
| 13 | g.23355028A>C | CA483164072 | SACS | c.1584T>G (p.Val528=) n.1722T>G c.1575T>G (p.Val525=) n.3941T>G c.-667T>G (n.-667T>G) c.456T>G (p.Val152=) c.1282T>G c.1143T>G (p.Val381=) c.1608T>G (p.Val536=) | |
| 13 | g.23355028A>G | CA483164071 | SACS | c.1584T>C (p.Val528=) n.1722T>C c.1575T>C (p.Val525=) n.3941T>C c.-667T>C (n.-667T>C) c.456T>C (p.Val152=) c.1282T>C c.1143T>C (p.Val381=) c.1608T>C (p.Val536=) | |
| 13 | g.23355028A>T | CA483164073 | SACS | c.1584T>A (p.Val528=) n.1722T>A c.1575T>A (p.Val525=) n.3941T>A c.-667T>A (n.-667T>A) c.456T>A (p.Val152=) c.1282T>A c.1143T>A (p.Val381=) c.1608T>A (p.Val536=) | |
| 13 | g.23355029A>C | CA387547709 | SACS | c.1583T>G (p.Val528Gly) n.1721T>G c.1574T>G (p.Val525Gly) n.3940T>G c.-668T>G (n.-668T>G) c.455T>G (p.Val152Gly) c.1281T>G c.1142T>G (p.Val381Gly) c.1607T>G (p.Val536Gly) | |
| 13 | g.23355029A>G | CA387547711 | SACS | c.1583T>C (p.Val528Ala) n.1721T>C c.1574T>C (p.Val525Ala) n.3940T>C c.-668T>C (n.-668T>C) c.455T>C (p.Val152Ala) c.1281T>C c.1142T>C (p.Val381Ala) c.1607T>C (p.Val536Ala) | |
| 13 | g.23355029A>T | CA387547713 | SACS | c.1583T>A (p.Val528Asp) n.1721T>A c.1574T>A (p.Val525Asp) n.3940T>A c.-668T>A (n.-668T>A) c.455T>A (p.Val152Asp) c.1281T>A c.1142T>A (p.Val381Asp) c.1607T>A (p.Val536Asp) | |
| 13 | g.23355030C>A | CA387547716 | SACS | c.1582G>T (p.Val528Phe) n.1720G>T c.1573G>T (p.Val525Phe) n.3939G>T c.-669G>T (n.-669G>T) c.454G>T (p.Val152Phe) c.1280G>T c.1141G>T (p.Val381Phe) c.1606G>T (p.Val536Phe) | gnomAD v4 |
| 13 | g.23355030C>G | CA387547718 | SACS | c.1582G>C (p.Val528Leu) n.1720G>C c.1573G>C (p.Val525Leu) n.3939G>C c.-669G>C (n.-669G>C) c.454G>C (p.Val152Leu) c.1280G>C c.1141G>C (p.Val381Leu) c.1606G>C (p.Val536Leu) | |
| 13 | g.23355030C>T | CA387547720 | SACS | c.1582G>A (p.Val528Ile) n.1720G>A c.1573G>A (p.Val525Ile) n.3939G>A c.-669G>A (n.-669G>A) c.454G>A (p.Val152Ile) c.1280G>A c.1141G>A (p.Val381Ile) c.1606G>A (p.Val536Ile) | |
| 13 | g.23355031T>A | CA483164074 | SACS | c.1581A>T (p.Ser527=) n.1719A>T c.1572A>T (p.Ser524=) n.3938A>T c.-670A>T (n.-670A>T) c.453A>T (p.Ser151=) c.1279A>T c.1140A>T (p.Ser380=) c.1605A>T (p.Ser535=) | |
| 13 | g.23355031T>C | CA483164075 | SACS | c.1581A>G (p.Ser527=) n.1719A>G c.1572A>G (p.Ser524=) n.3938A>G c.-670A>G (n.-670A>G) c.453A>G (p.Ser151=) c.1279A>G c.1140A>G (p.Ser380=) c.1605A>G (p.Ser535=) | ClinVar dbSNP |
| 13 | g.23355031T>G | CA483164076 | SACS | c.1581A>C (p.Ser527=) n.1719A>C c.1572A>C (p.Ser524=) n.3938A>C c.-670A>C (n.-670A>C) c.453A>C (p.Ser151=) c.1279A>C c.1140A>C (p.Ser380=) c.1605A>C (p.Ser535=) | |
| 13 | g.23355031T= | CA2078658144 | SACS | c.1581A= (p.Ser527=) n.1719A= c.1572A= (p.Ser524=) n.3938A= c.-670A= (n.-670A=) c.453A= (p.Ser151=) c.1279A= c.1140A= (p.Ser380=) c.1605A= (p.Ser535=) | |
| 13 | g.23355032G>A | CA387547725 | SACS | c.1580C>T (p.Ser527Leu) n.1718C>T c.1571C>T (p.Ser524Leu) n.3937C>T c.-671C>T (n.-671C>T) c.452C>T (p.Ser151Leu) c.1278C>T c.1139C>T (p.Ser380Leu) c.1604C>T (p.Ser535Leu) | |
| 13 | g.23355032G>C | CA387547727 | SACS | c.1580C>G (p.Ser527Ter) n.1718C>G c.1571C>G (p.Ser524Ter) n.3937C>G c.-671C>G (n.-671C>G) c.452C>G (p.Ser151Ter) c.1278C>G c.1139C>G (p.Ser380Ter) c.1604C>G (p.Ser535Ter) | |
| 13 | g.23355032G>T | CA387547723 | SACS | c.1580C>A (p.Ser527Ter) n.1718C>A c.1571C>A (p.Ser524Ter) n.3937C>A c.-671C>A (n.-671C>A) c.452C>A (p.Ser151Ter) c.1278C>A c.1139C>A (p.Ser380Ter) c.1604C>A (p.Ser535Ter) | |
| 13 | g.23355033A= | CA2078658149 | SACS | c.1579T= (p.Ser527=) n.1717T= c.1570T= (p.Ser524=) n.3936T= c.-672T= (n.-672T=) c.451T= (p.Ser151=) c.1277T= c.1138T= (p.Ser380=) c.1603T= (p.Ser535=) | |
| 13 | g.23355033A>C | CA387547730 | SACS | c.1579T>G (p.Ser527Ala) n.1717T>G c.1570T>G (p.Ser524Ala) n.3936T>G c.-672T>G (n.-672T>G) c.451T>G (p.Ser151Ala) c.1277T>G c.1138T>G (p.Ser380Ala) c.1603T>G (p.Ser535Ala) | |
| 13 | g.23355033A>G | CA6911894 | SACS | c.1579T>C (p.Ser527Pro) n.1717T>C c.1570T>C (p.Ser524Pro) n.3936T>C c.-672T>C (n.-672T>C) c.451T>C (p.Ser151Pro) c.1277T>C c.1138T>C (p.Ser380Pro) c.1603T>C (p.Ser535Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355033A>T | CA387547733 | SACS | c.1579T>A (p.Ser527Thr) n.1717T>A c.1570T>A (p.Ser524Thr) n.3936T>A c.-672T>A (n.-672T>A) c.451T>A (p.Ser151Thr) c.1277T>A c.1138T>A (p.Ser380Thr) c.1603T>A (p.Ser535Thr) | |
| 13 | g.23355034C>A | CA387547735 | SACS | c.1578G>T (p.Leu526Phe) n.1716G>T c.1569G>T (p.Leu523Phe) n.3935G>T c.-673G>T (n.-673G>T) c.450G>T (p.Leu150Phe) c.1276G>T c.1137G>T (p.Leu379Phe) c.1602G>T (p.Leu534Phe) | COSMIC COSMIC |
| 13 | g.23355034C>G | CA387547737 | SACS | c.1578G>C (p.Leu526Phe) n.1716G>C c.1569G>C (p.Leu523Phe) n.3935G>C c.-673G>C (n.-673G>C) c.450G>C (p.Leu150Phe) c.1276G>C c.1137G>C (p.Leu379Phe) c.1602G>C (p.Leu534Phe) | |
| 13 | g.23355034C>T | CA483164078 | SACS | c.1578G>A (p.Leu526=) n.1716G>A c.1569G>A (p.Leu523=) n.3935G>A c.-673G>A (n.-673G>A) c.450G>A (p.Leu150=) c.1276G>A c.1137G>A (p.Leu379=) c.1602G>A (p.Leu534=) | |
| 13 | g.23355035A= | CA2078658151 | SACS | c.1577T= (p.Leu526=) n.1715T= c.1568T= (p.Leu523=) n.3934T= c.-674T= (n.-674T=) c.449T= (p.Leu150=) c.1275T= c.1136T= (p.Leu379=) c.1601T= (p.Leu534=) | |
| 13 | g.23355035A>C | CA387547743 | SACS | c.1577T>G (p.Leu526Trp) n.1715T>G c.1568T>G (p.Leu523Trp) n.3934T>G c.-674T>G (n.-674T>G) c.449T>G (p.Leu150Trp) c.1275T>G c.1136T>G (p.Leu379Trp) c.1601T>G (p.Leu534Trp) | dbSNP |
| 13 | g.23355035A>G | CA387547740 | SACS | c.1577T>C (p.Leu526Ser) n.1715T>C c.1568T>C (p.Leu523Ser) n.3934T>C c.-674T>C (n.-674T>C) c.449T>C (p.Leu150Ser) c.1275T>C c.1136T>C (p.Leu379Ser) c.1601T>C (p.Leu534Ser) | gnomAD v4 |
| 13 | g.23355035A>T | CA387547742 | SACS | c.1577T>A (p.Leu526Ter) n.1715T>A c.1568T>A (p.Leu523Ter) n.3934T>A c.-674T>A (n.-674T>A) c.449T>A (p.Leu150Ter) c.1275T>A c.1136T>A (p.Leu379Ter) c.1601T>A (p.Leu534Ter) | |
| 13 | g.23355036A= | CA2078658156 | SACS | c.1576T= (p.Leu526=) n.1714T= c.1567T= (p.Leu523=) n.3933T= c.-675T= (n.-675T=) c.448T= (p.Leu150=) c.1274T= c.1135T= (p.Leu379=) c.1600T= (p.Leu534=) | |
| 13 | g.23355036A>C | CA246677511 | SACS | c.1576T>G (p.Leu526Val) n.1714T>G c.1567T>G (p.Leu523Val) n.3933T>G c.-675T>G (n.-675T>G) c.448T>G (p.Leu150Val) c.1274T>G c.1135T>G (p.Leu379Val) c.1600T>G (p.Leu534Val) | dbSNP |
| 13 | g.23355036A>G | CA483164081 | SACS | c.1576T>C (p.Leu526=) n.1714T>C c.1567T>C (p.Leu523=) n.3933T>C c.-675T>C (n.-675T>C) c.448T>C (p.Leu150=) c.1274T>C c.1135T>C (p.Leu379=) c.1600T>C (p.Leu534=) | ClinVar |
| 13 | g.23355036A>T | CA387547746 | SACS | c.1576T>A (p.Leu526Met) n.1714T>A c.1567T>A (p.Leu523Met) n.3933T>A c.-675T>A (n.-675T>A) c.448T>A (p.Leu150Met) c.1274T>A c.1135T>A (p.Leu379Met) c.1600T>A (p.Leu534Met) | |
| 13 | g.23355037G>A | CA483164082 | SACS | c.1575C>T (p.Pro525=) n.1713C>T c.1566C>T (p.Pro522=) n.3932C>T c.-676C>T (n.-676C>T) c.447C>T (p.Pro149=) c.1273C>T c.1134C>T (p.Pro378=) c.1599C>T (p.Pro533=) | gnomAD v4 |
| 13 | g.23355037G>C | CA483164083 | SACS | c.1575C>G (p.Pro525=) n.1713C>G c.1566C>G (p.Pro522=) n.3932C>G c.-676C>G (n.-676C>G) c.447C>G (p.Pro149=) c.1273C>G c.1134C>G (p.Pro378=) c.1599C>G (p.Pro533=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355037G>T | CA483164084 | SACS | c.1575C>A (p.Pro525=) n.1713C>A c.1566C>A (p.Pro522=) n.3932C>A c.-676C>A (n.-676C>A) c.447C>A (p.Pro149=) c.1273C>A c.1134C>A (p.Pro378=) c.1599C>A (p.Pro533=) | |
| 13 | g.23355038G>A | CA387547749 | SACS | c.1574C>T (p.Pro525Leu) n.1712C>T c.1565C>T (p.Pro522Leu) n.3931C>T c.-677C>T (n.-677C>T) c.446C>T (p.Pro149Leu) c.1272C>T c.1133C>T (p.Pro378Leu) c.1598C>T (p.Pro533Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355038G>C | CA387547751 | SACS | c.1574C>G (p.Pro525Arg) n.1712C>G c.1565C>G (p.Pro522Arg) n.3931C>G c.-677C>G (n.-677C>G) c.446C>G (p.Pro149Arg) c.1272C>G c.1133C>G (p.Pro378Arg) c.1598C>G (p.Pro533Arg) | |
| 13 | g.23355038G= | CA2078658159 | SACS | c.1574C= (p.Pro525=) n.1712C= c.1565C= (p.Pro522=) n.3931C= c.-677C= (n.-677C=) c.446C= (p.Pro149=) c.1272C= c.1133C= (p.Pro378=) c.1598C= (p.Pro533=) | |
| 13 | g.23355038G>T | CA387547753 | SACS | c.1574C>A (p.Pro525His) n.1712C>A c.1565C>A (p.Pro522His) n.3931C>A c.-677C>A (n.-677C>A) c.446C>A (p.Pro149His) c.1272C>A c.1133C>A (p.Pro378His) c.1598C>A (p.Pro533His) | |
| 13 | g.23355039G>A | CA387547761 | SACS | c.1573C>T (p.Pro525Ser) n.1711C>T c.1564C>T (p.Pro522Ser) n.3930C>T c.-678C>T (n.-678C>T) c.445C>T (p.Pro149Ser) c.1271C>T c.1132C>T (p.Pro378Ser) c.1597C>T (p.Pro533Ser) | COSMIC COSMIC |
| 13 | g.23355039G>C | CA387547757 | SACS | c.1573C>G (p.Pro525Ala) n.1711C>G c.1564C>G (p.Pro522Ala) n.3930C>G c.-678C>G (n.-678C>G) c.445C>G (p.Pro149Ala) c.1271C>G c.1132C>G (p.Pro378Ala) c.1597C>G (p.Pro533Ala) | |
| 13 | g.23355039G>T | CA387547759 | SACS | c.1573C>A (p.Pro525Thr) n.1711C>A c.1564C>A (p.Pro522Thr) n.3930C>A c.-678C>A (n.-678C>A) c.445C>A (p.Pro149Thr) c.1271C>A c.1132C>A (p.Pro378Thr) c.1597C>A (p.Pro533Thr) | |
| 13 | g.23355040G>A | CA483164085 | SACS | c.1572C>T (p.Phe524=) n.1710C>T c.1563C>T (p.Phe521=) n.3929C>T c.-679C>T (n.-679C>T) c.444C>T (p.Phe148=) c.1270C>T c.1131C>T (p.Phe377=) c.1596C>T (p.Phe532=) | gnomAD v4 |
| 13 | g.23355040G>C | CA387547763 | SACS | c.1572C>G (p.Phe524Leu) n.1710C>G c.1563C>G (p.Phe521Leu) n.3929C>G c.-679C>G (n.-679C>G) c.444C>G (p.Phe148Leu) c.1270C>G c.1131C>G (p.Phe377Leu) c.1596C>G (p.Phe532Leu) | |
| 13 | g.23355040G>T | CA387547765 | SACS | c.1572C>A (p.Phe524Leu) n.1710C>A c.1563C>A (p.Phe521Leu) n.3929C>A c.-679C>A (n.-679C>A) c.444C>A (p.Phe148Leu) c.1270C>A c.1131C>A (p.Phe377Leu) c.1596C>A (p.Phe532Leu) | |
| 13 | g.23355041A>C | CA387547767 | SACS | c.1571T>G (p.Phe524Cys) n.1709T>G c.1562T>G (p.Phe521Cys) n.3928T>G c.-680T>G (n.-680T>G) c.443T>G (p.Phe148Cys) c.1269T>G c.1130T>G (p.Phe377Cys) c.1595T>G (p.Phe532Cys) | |
| 13 | g.23355041A>G | CA387547768 | SACS | c.1571T>C (p.Phe524Ser) n.1709T>C c.1562T>C (p.Phe521Ser) n.3928T>C c.-680T>C (n.-680T>C) c.443T>C (p.Phe148Ser) c.1269T>C c.1130T>C (p.Phe377Ser) c.1595T>C (p.Phe532Ser) | |
| 13 | g.23355041A>T | CA387547770 | SACS | c.1571T>A (p.Phe524Tyr) n.1709T>A c.1562T>A (p.Phe521Tyr) n.3928T>A c.-680T>A (n.-680T>A) c.443T>A (p.Phe148Tyr) c.1269T>A c.1130T>A (p.Phe377Tyr) c.1595T>A (p.Phe532Tyr) | gnomAD v4 |
| 13 | g.23355042A>C | CA387547773 | SACS | c.1570T>G (p.Phe524Val) n.1708T>G c.1561T>G (p.Phe521Val) n.3927T>G c.-681T>G (n.-681T>G) c.442T>G (p.Phe148Val) c.1268T>G c.1129T>G (p.Phe377Val) c.1594T>G (p.Phe532Val) | |
| 13 | g.23355042A>G | CA387547775 | SACS | c.1570T>C (p.Phe524Leu) n.1708T>C c.1561T>C (p.Phe521Leu) n.3927T>C c.-681T>C (n.-681T>C) c.442T>C (p.Phe148Leu) c.1268T>C c.1129T>C (p.Phe377Leu) c.1594T>C (p.Phe532Leu) | |
| 13 | g.23355042A>T | CA387547777 | SACS | c.1570T>A (p.Phe524Ile) n.1708T>A c.1561T>A (p.Phe521Ile) n.3927T>A c.-681T>A (n.-681T>A) c.442T>A (p.Phe148Ile) c.1268T>A c.1129T>A (p.Phe377Ile) c.1594T>A (p.Phe532Ile) | |
| 13 | g.23355042_23355043delinsTGTGTATAAGAGACAG | CA2580086857 | SACS | c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524CysfsTer31) n.1707_1708delinsCTGTCTCTTATACACA c.1560_1561delinsCTGTCTCTTATACACA (p.Phe521CysfsTer31) n.3926_3927delinsCTGTCTCTTATACACA c.-682_-681delinsCTGTCTCTTATACACA (n.-682_-681delinsCTGTCTCTTATACACA) c.441_442delinsCTGTCTCTTATACACA (p.Phe148CysfsTer31) c.1267_1268delinsCTGTCTCTTATACACA c.1128_1129delinsCTGTCTCTTATACACA (p.Phe377CysfsTer31) c.1593_1594delinsCTGTCTCTTATACACA (p.Phe532CysfsTer31) | ClinVar |
| 13 | g.23355043A>C | CA387547778 | SACS | c.1569T>G (p.Asp523Glu) n.1707T>G c.1560T>G (p.Asp520Glu) n.3926T>G c.-682T>G (n.-682T>G) c.441T>G (p.Asp147Glu) c.1267T>G c.1128T>G (p.Asp376Glu) c.1593T>G (p.Asp531Glu) | |
| 13 | g.23355043A>G | CA483164089 | SACS | c.1569T>C (p.Asp523=) n.1707T>C c.1560T>C (p.Asp520=) n.3926T>C c.-682T>C (n.-682T>C) c.441T>C (p.Asp147=) c.1267T>C c.1128T>C (p.Asp376=) c.1593T>C (p.Asp531=) | |
| 13 | g.23355043A>T | CA387547779 | SACS | c.1569T>A (p.Asp523Glu) n.1707T>A c.1560T>A (p.Asp520Glu) n.3926T>A c.-682T>A (n.-682T>A) c.441T>A (p.Asp147Glu) c.1267T>A c.1128T>A (p.Asp376Glu) c.1593T>A (p.Asp531Glu) | |
| 13 | g.23355044T>A | CA387547782 | SACS | c.1568A>T (p.Asp523Val) n.1706A>T c.1559A>T (p.Asp520Val) n.3925A>T c.-683A>T (n.-683A>T) c.440A>T (p.Asp147Val) c.1266A>T c.1127A>T (p.Asp376Val) c.1592A>T (p.Asp531Val) | |
| 13 | g.23355044T>C | CA387547784 | SACS | c.1568A>G (p.Asp523Gly) n.1706A>G c.1559A>G (p.Asp520Gly) n.3925A>G c.-683A>G (n.-683A>G) c.440A>G (p.Asp147Gly) c.1266A>G c.1127A>G (p.Asp376Gly) c.1592A>G (p.Asp531Gly) | |
| 13 | g.23355044T>G | CA387547786 | SACS | c.1568A>C (p.Asp523Ala) n.1706A>C c.1559A>C (p.Asp520Ala) n.3925A>C c.-683A>C (n.-683A>C) c.440A>C (p.Asp147Ala) c.1266A>C c.1127A>C (p.Asp376Ala) c.1592A>C (p.Asp531Ala) | |
| 13 | g.23355045C>A | CA387547790 | SACS | c.1567G>T (p.Asp523Tyr) n.1705G>T c.1558G>T (p.Asp520Tyr) n.3924G>T c.-684G>T (n.-684G>T) c.439G>T (p.Asp147Tyr) c.1265G>T c.1126G>T (p.Asp376Tyr) c.1591G>T (p.Asp531Tyr) | |
| 13 | g.23355045C>G | CA387547794 | SACS | c.1567G>C (p.Asp523His) n.1705G>C c.1558G>C (p.Asp520His) n.3924G>C c.-684G>C (n.-684G>C) c.439G>C (p.Asp147His) c.1265G>C c.1126G>C (p.Asp376His) c.1591G>C (p.Asp531His) | |
| 13 | g.23355045C>T | CA387547791 | SACS | c.1567G>A (p.Asp523Asn) n.1705G>A c.1558G>A (p.Asp520Asn) n.3924G>A c.-684G>A (n.-684G>A) c.439G>A (p.Asp147Asn) c.1265G>A c.1126G>A (p.Asp376Asn) c.1591G>A (p.Asp531Asn) | |
| 13 | g.23355046A= | CA2078658162 | SACS | c.1566T= (p.Ser522=) n.1704T= c.1557T= (p.Ser519=) n.3923T= c.-685T= (n.-685T=) c.438T= (p.Ser146=) c.1264T= c.1125T= (p.Ser375=) c.1590T= (p.Ser530=) | |
| 13 | g.23355046A>C | CA483164091 | SACS | c.1566T>G (p.Ser522=) n.1704T>G c.1557T>G (p.Ser519=) n.3923T>G c.-685T>G (n.-685T>G) c.438T>G (p.Ser146=) c.1264T>G c.1125T>G (p.Ser375=) c.1590T>G (p.Ser530=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355046A>G | CA483164092 | SACS | c.1566T>C (p.Ser522=) n.1704T>C c.1557T>C (p.Ser519=) n.3923T>C c.-685T>C (n.-685T>C) c.438T>C (p.Ser146=) c.1264T>C c.1125T>C (p.Ser375=) c.1590T>C (p.Ser530=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355046A>T | CA483164093 | SACS | c.1566T>A (p.Ser522=) n.1704T>A c.1557T>A (p.Ser519=) n.3923T>A c.-685T>A (n.-685T>A) c.438T>A (p.Ser146=) c.1264T>A c.1125T>A (p.Ser375=) c.1590T>A (p.Ser530=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355046dup | CA2727686111 | SACS | c.1566dup (p.Asp523Ter) n.1704dup c.1557dup (p.Asp520Ter) n.3923dup c.-685dup (n.-685dup) c.438dup (p.Asp147Ter) c.1264dup c.1125dup (p.Asp376Ter) c.1590dup (p.Asp531Ter) | dbSNP |
| 13 | g.23355047G>A | CA387547797 | SACS | c.1565C>T (p.Ser522Phe) n.1703C>T c.1556C>T (p.Ser519Phe) n.3922C>T c.-686C>T (n.-686C>T) c.437C>T (p.Ser146Phe) c.1263C>T c.1124C>T (p.Ser375Phe) c.1589C>T (p.Ser530Phe) | dbSNP |
| 13 | g.23355047G>C | CA387547799 | SACS | c.1565C>G (p.Ser522Cys) n.1703C>G c.1556C>G (p.Ser519Cys) n.3922C>G c.-686C>G (n.-686C>G) c.437C>G (p.Ser146Cys) c.1263C>G c.1124C>G (p.Ser375Cys) c.1589C>G (p.Ser530Cys) | |
| 13 | g.23355047G= | CA2078658167 | SACS | c.1565C= (p.Ser522=) n.1703C= c.1556C= (p.Ser519=) n.3922C= c.-686C= (n.-686C=) c.437C= (p.Ser146=) c.1263C= c.1124C= (p.Ser375=) c.1589C= (p.Ser530=) | |
| 13 | g.23355047G>T | CA6911895 | SACS | c.1565C>A (p.Ser522Tyr) n.1703C>A c.1556C>A (p.Ser519Tyr) n.3922C>A c.-686C>A (n.-686C>A) c.437C>A (p.Ser146Tyr) c.1263C>A c.1124C>A (p.Ser375Tyr) c.1589C>A (p.Ser530Tyr) | dbSNP ExAC |
| 13 | g.23355048A>C | CA387547802 | SACS | c.1564T>G (p.Ser522Ala) n.1702T>G c.1555T>G (p.Ser519Ala) n.3921T>G c.-687T>G (n.-687T>G) c.436T>G (p.Ser146Ala) c.1262T>G c.1123T>G (p.Ser375Ala) c.1588T>G (p.Ser530Ala) | |
| 13 | g.23355048A>G | CA387547804 | SACS | c.1564T>C (p.Ser522Pro) n.1702T>C c.1555T>C (p.Ser519Pro) n.3921T>C c.-687T>C (n.-687T>C) c.436T>C (p.Ser146Pro) c.1262T>C c.1123T>C (p.Ser375Pro) c.1588T>C (p.Ser530Pro) | |
| 13 | g.23355048A>T | CA387547807 | SACS | c.1564T>A (p.Ser522Thr) n.1702T>A c.1555T>A (p.Ser519Thr) n.3921T>A c.-687T>A (n.-687T>A) c.436T>A (p.Ser146Thr) c.1262T>A c.1123T>A (p.Ser375Thr) c.1588T>A (p.Ser530Thr) | |
| 13 | g.23355049G>A | CA483164095 | SACS | c.1563C>T (p.Ser521=) n.1701C>T c.1554C>T (p.Ser518=) n.3920C>T c.-688C>T (n.-688C>T) c.435C>T (p.Ser145=) c.1261C>T c.1122C>T (p.Ser374=) c.1587C>T (p.Ser529=) | ClinVar |
| 13 | g.23355049G>C | CA387547809 | SACS | c.1563C>G (p.Ser521Arg) n.1701C>G c.1554C>G (p.Ser518Arg) n.3920C>G c.-688C>G (n.-688C>G) c.435C>G (p.Ser145Arg) c.1261C>G c.1122C>G (p.Ser374Arg) c.1587C>G (p.Ser529Arg) | |
| 13 | g.23355049G>T | CA387547810 | SACS | c.1563C>A (p.Ser521Arg) n.1701C>A c.1554C>A (p.Ser518Arg) n.3920C>A c.-688C>A (n.-688C>A) c.435C>A (p.Ser145Arg) c.1261C>A c.1122C>A (p.Ser374Arg) c.1587C>A (p.Ser529Arg) | |
| 13 | g.23355050C>A | CA387547811 | SACS | c.1562G>T (p.Ser521Ile) n.1700G>T c.1553G>T (p.Ser518Ile) n.3919G>T c.-689G>T (n.-689G>T) c.434G>T (p.Ser145Ile) c.1260G>T c.1121G>T (p.Ser374Ile) c.1586G>T (p.Ser529Ile) | |
| 13 | g.23355050C= | CA2078658171 | SACS | c.1562G= (p.Ser521=) n.1700G= c.1553G= (p.Ser518=) n.3919G= c.-689G= (n.-689G=) c.434G= (p.Ser145=) c.1260G= c.1121G= (p.Ser374=) c.1586G= (p.Ser529=) | |
| 13 | g.23355050C>G | CA6911896 | SACS | c.1562G>C (p.Ser521Thr) n.1700G>C c.1553G>C (p.Ser518Thr) n.3919G>C c.-689G>C (n.-689G>C) c.434G>C (p.Ser145Thr) c.1260G>C c.1121G>C (p.Ser374Thr) c.1586G>C (p.Ser529Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355050C>T | CA387547814 | SACS | c.1562G>A (p.Ser521Asn) n.1700G>A c.1553G>A (p.Ser518Asn) n.3919G>A c.-689G>A (n.-689G>A) c.434G>A (p.Ser145Asn) c.1260G>A c.1121G>A (p.Ser374Asn) c.1586G>A (p.Ser529Asn) | gnomAD v4 |
| 13 | g.23355051T>A | CA387547817 | SACS | c.1561A>T (p.Ser521Cys) n.1699A>T c.1552A>T (p.Ser518Cys) n.3918A>T c.-690A>T (n.-690A>T) c.433A>T (p.Ser145Cys) c.1259A>T c.1120A>T (p.Ser374Cys) c.1585A>T (p.Ser529Cys) | |
| 13 | g.23355051T>C | CA387547820 | SACS | c.1561A>G (p.Ser521Gly) n.1699A>G c.1552A>G (p.Ser518Gly) n.3918A>G c.-690A>G (n.-690A>G) c.433A>G (p.Ser145Gly) c.1259A>G c.1120A>G (p.Ser374Gly) c.1585A>G (p.Ser529Gly) | |
| 13 | g.23355051T>G | CA387547821 | SACS | c.1561A>C (p.Ser521Arg) n.1699A>C c.1552A>C (p.Ser518Arg) n.3918A>C c.-690A>C (n.-690A>C) c.433A>C (p.Ser145Arg) c.1259A>C c.1120A>C (p.Ser374Arg) c.1585A>C (p.Ser529Arg) | |
| 13 | g.23355052C>A | CA387547823 | SACS | c.1560G>T (p.Lys520Asn) n.1698G>T c.1551G>T (p.Lys517Asn) n.3917G>T c.-691G>T (n.-691G>T) c.432G>T (p.Lys144Asn) c.1258G>T c.1119G>T (p.Lys373Asn) c.1584G>T (p.Lys528Asn) | |
| 13 | g.23355052C= | CA2078658176 | SACS | c.1560G= (p.Lys520=) n.1698G= c.1551G= (p.Lys517=) n.3917G= c.-691G= (n.-691G=) c.432G= (p.Lys144=) c.1258G= c.1119G= (p.Lys373=) c.1584G= (p.Lys528=) | |
| 13 | g.23355052C>G | CA6911897 | SACS | c.1560G>C (p.Lys520Asn) n.1698G>C c.1551G>C (p.Lys517Asn) n.3917G>C c.-691G>C (n.-691G>C) c.432G>C (p.Lys144Asn) c.1258G>C c.1119G>C (p.Lys373Asn) c.1584G>C (p.Lys528Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.23355052C>T | CA483164096 | SACS | c.1560G>A (p.Lys520=) n.1698G>A c.1551G>A (p.Lys517=) n.3917G>A c.-691G>A (n.-691G>A) c.432G>A (p.Lys144=) c.1258G>A c.1119G>A (p.Lys373=) c.1584G>A (p.Lys528=) | |
| 13 | g.23355053T>A | CA387547827 | SACS | c.1559A>T (p.Lys520Met) n.1697A>T c.1550A>T (p.Lys517Met) n.3916A>T c.-692A>T (n.-692A>T) c.431A>T (p.Lys144Met) c.1257A>T c.1118A>T (p.Lys373Met) c.1583A>T (p.Lys528Met) | |
| 13 | g.23355053T>C | CA387547829 | SACS | c.1559A>G (p.Lys520Arg) n.1697A>G c.1550A>G (p.Lys517Arg) n.3916A>G c.-692A>G (n.-692A>G) c.431A>G (p.Lys144Arg) c.1257A>G c.1118A>G (p.Lys373Arg) c.1583A>G (p.Lys528Arg) | |
| 13 | g.23355053T>G | CA387547831 | SACS | c.1559A>C (p.Lys520Thr) n.1697A>C c.1550A>C (p.Lys517Thr) n.3916A>C c.-692A>C (n.-692A>C) c.431A>C (p.Lys144Thr) c.1257A>C c.1118A>C (p.Lys373Thr) c.1583A>C (p.Lys528Thr) | |
| 13 | g.23355054T>A | CA387547832 | SACS | c.1558A>T (p.Lys520Ter) n.1696A>T c.1549A>T (p.Lys517Ter) n.3915A>T c.-693A>T (n.-693A>T) c.430A>T (p.Lys144Ter) c.1256A>T c.1117A>T (p.Lys373Ter) c.1582A>T (p.Lys528Ter) | |
| 13 | g.23355054T>C | CA387547833 | SACS | c.1558A>G (p.Lys520Glu) n.1696A>G c.1549A>G (p.Lys517Glu) n.3915A>G c.-693A>G (n.-693A>G) c.430A>G (p.Lys144Glu) c.1256A>G c.1117A>G (p.Lys373Glu) c.1582A>G (p.Lys528Glu) | |
| 13 | g.23355054T>G | CA387547834 | SACS | c.1558A>C (p.Lys520Gln) n.1696A>C c.1549A>C (p.Lys517Gln) n.3915A>C c.-693A>C (n.-693A>C) c.430A>C (p.Lys144Gln) c.1256A>C c.1117A>C (p.Lys373Gln) c.1582A>C (p.Lys528Gln) | |
| 13 | g.23355055T>A | CA387547835 | SACS | c.1557A>T (p.Glu519Asp) n.1695A>T c.1548A>T (p.Glu516Asp) n.3914A>T c.-694A>T (n.-694A>T) c.429A>T (p.Glu143Asp) c.1255A>T c.1116A>T (p.Glu372Asp) c.1581A>T (p.Glu527Asp) | |
| 13 | g.23355055T>C | CA483164100 | SACS | c.1557A>G (p.Glu519=) n.1695A>G c.1548A>G (p.Glu516=) n.3914A>G c.-694A>G (n.-694A>G) c.429A>G (p.Glu143=) c.1255A>G c.1116A>G (p.Glu372=) c.1581A>G (p.Glu527=) | |
| 13 | g.23355055T>G | CA387547837 | SACS | c.1557A>C (p.Glu519Asp) n.1695A>C c.1548A>C (p.Glu516Asp) n.3914A>C c.-694A>C (n.-694A>C) c.429A>C (p.Glu143Asp) c.1255A>C c.1116A>C (p.Glu372Asp) c.1581A>C (p.Glu527Asp) | |
| 13 | g.23355056T>A | CA387547839 | SACS | c.1556A>T (p.Glu519Val) n.1694A>T c.1547A>T (p.Glu516Val) n.3913A>T c.-695A>T (n.-695A>T) c.428A>T (p.Glu143Val) c.1254A>T c.1115A>T (p.Glu372Val) c.1580A>T (p.Glu527Val) | |
| 13 | g.23355056T>C | CA387547841 | SACS | c.1556A>G (p.Glu519Gly) n.1694A>G c.1547A>G (p.Glu516Gly) n.3913A>G c.-695A>G (n.-695A>G) c.428A>G (p.Glu143Gly) c.1254A>G c.1115A>G (p.Glu372Gly) c.1580A>G (p.Glu527Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23355056T>G | CA387547843 | SACS | c.1556A>C (p.Glu519Ala) n.1694A>C c.1547A>C (p.Glu516Ala) n.3913A>C c.-695A>C (n.-695A>C) c.428A>C (p.Glu143Ala) c.1254A>C c.1115A>C (p.Glu372Ala) c.1580A>C (p.Glu527Ala) | |
| 13 | g.23355056T= | CA2078658178 | SACS | c.1556A= (p.Glu519=) n.1694A= c.1547A= (p.Glu516=) n.3913A= c.-695A= (n.-695A=) c.428A= (p.Glu143=) c.1254A= c.1115A= (p.Glu372=) c.1580A= (p.Glu527=) | |
| 13 | g.23355057C>A | CA387547849 | SACS | c.1555G>T (p.Glu519Ter) n.1693G>T c.1546G>T (p.Glu516Ter) n.3912G>T c.-696G>T (n.-696G>T) c.427G>T (p.Glu143Ter) c.1253G>T c.1114G>T (p.Glu372Ter) c.1579G>T (p.Glu527Ter) | |
| 13 | g.23355057C>G | CA387547848 | SACS | c.1555G>C (p.Glu519Gln) n.1693G>C c.1546G>C (p.Glu516Gln) n.3912G>C c.-696G>C (n.-696G>C) c.427G>C (p.Glu143Gln) c.1253G>C c.1114G>C (p.Glu372Gln) c.1579G>C (p.Glu527Gln) | |
| 13 | g.23355057C>T | CA387547846 | SACS | c.1555G>A (p.Glu519Lys) n.1693G>A c.1546G>A (p.Glu516Lys) n.3912G>A c.-696G>A (n.-696G>A) c.427G>A (p.Glu143Lys) c.1253G>A c.1114G>A (p.Glu372Lys) c.1579G>A (p.Glu527Lys) | |
| 13 | g.23355058del | CA2499221989 | SACS | c.1555del (p.Glu519LysfsTer?) n.1693del c.1546del (p.Glu516LysfsTer?) n.3912del c.-696del (n.-696del) c.427del (p.Glu143LysfsTer?) c.1253del c.1114del (p.Glu372LysfsTer?) c.1579del (p.Glu527LysfsTer?) | ClinVar dbSNP |
| 13 | g.23355058C>A | CA387547853 | SACS | c.1554G>T (p.Met518Ile) n.1692G>T c.1545G>T (p.Met515Ile) n.3911G>T c.-697G>T (n.-697G>T) c.426G>T (p.Met142Ile) c.1252G>T c.1113G>T (p.Met371Ile) c.1578G>T (p.Met526Ile) | |
| 13 | g.23355058C>G | CA387547857 | SACS | c.1554G>C (p.Met518Ile) n.1692G>C c.1545G>C (p.Met515Ile) n.3911G>C c.-697G>C (n.-697G>C) c.426G>C (p.Met142Ile) c.1252G>C c.1113G>C (p.Met371Ile) c.1578G>C (p.Met526Ile) | |
| 13 | g.23355058C>T | CA387547856 | SACS | c.1554G>A (p.Met518Ile) n.1692G>A c.1545G>A (p.Met515Ile) n.3911G>A c.-697G>A (n.-697G>A) c.426G>A (p.Met142Ile) c.1252G>A c.1113G>A (p.Met371Ile) c.1578G>A (p.Met526Ile) | dbSNP |
| 13 | g.23355059A= | CA2078658181 | SACS | c.1553T= (p.Met518=) n.1691T= c.1544T= (p.Met515=) n.3910T= c.-698T= (n.-698T=) c.425T= (p.Met142=) c.1251T= c.1112T= (p.Met371=) c.1577T= (p.Met526=) | |
| 13 | g.23355059A>C | CA387547860 | SACS | c.1553T>G (p.Met518Arg) n.1691T>G c.1544T>G (p.Met515Arg) n.3910T>G c.-698T>G (n.-698T>G) c.425T>G (p.Met142Arg) c.1251T>G c.1112T>G (p.Met371Arg) c.1577T>G (p.Met526Arg) | |
| 13 | g.23355059A>G | CA387547864 | SACS | c.1553T>C (p.Met518Thr) n.1691T>C c.1544T>C (p.Met515Thr) n.3910T>C c.-698T>C (n.-698T>C) c.425T>C (p.Met142Thr) c.1251T>C c.1112T>C (p.Met371Thr) c.1577T>C (p.Met526Thr) | dbSNP gnomAD v4 |
| 13 | g.23355059A>T | CA387547862 | SACS | c.1553T>A (p.Met518Lys) n.1691T>A c.1544T>A (p.Met515Lys) n.3910T>A c.-698T>A (n.-698T>A) c.425T>A (p.Met142Lys) c.1251T>A c.1112T>A (p.Met371Lys) c.1577T>A (p.Met526Lys) | |
| 13 | g.23355060T>A | CA387547867 | SACS | c.1552A>T (p.Met518Leu) n.1690A>T c.1543A>T (p.Met515Leu) n.3909A>T c.-699A>T (n.-699A>T) c.424A>T (p.Met142Leu) c.1250A>T c.1111A>T (p.Met371Leu) c.1576A>T (p.Met526Leu) | |
| 13 | g.23355060T>C | CA387547869 | SACS | c.1552A>G (p.Met518Val) n.1690A>G c.1543A>G (p.Met515Val) n.3909A>G c.-699A>G (n.-699A>G) c.424A>G (p.Met142Val) c.1250A>G c.1111A>G (p.Met371Val) c.1576A>G (p.Met526Val) | |
| 13 | g.23355060T>G | CA387547871 | SACS | c.1552A>C (p.Met518Leu) n.1690A>C c.1543A>C (p.Met515Leu) n.3909A>C c.-699A>C (n.-699A>C) c.424A>C (p.Met142Leu) c.1250A>C c.1111A>C (p.Met371Leu) c.1576A>C (p.Met526Leu) | |
| 13 | g.23355061C>A | CA387547873 | SACS | c.1551G>T (p.Glu517Asp) n.1689G>T c.1542G>T (p.Glu514Asp) n.3908G>T c.-700G>T (n.-700G>T) c.423G>T (p.Glu141Asp) c.1249G>T c.1110G>T (p.Glu370Asp) c.1575G>T (p.Glu525Asp) | dbSNP gnomAD v2 |
| 13 | g.23355061C= | CA2078658183 | SACS | c.1551G= (p.Glu517=) n.1689G= c.1542G= (p.Glu514=) n.3908G= c.-700G= (n.-700G=) c.423G= (p.Glu141=) c.1249G= c.1110G= (p.Glu370=) c.1575G= (p.Glu525=) | |
| 13 | g.23355061C>G | CA387547875 | SACS | c.1551G>C (p.Glu517Asp) n.1689G>C c.1542G>C (p.Glu514Asp) n.3908G>C c.-700G>C (n.-700G>C) c.423G>C (p.Glu141Asp) c.1249G>C c.1110G>C (p.Glu370Asp) c.1575G>C (p.Glu525Asp) | |
| 13 | g.23355061C>T | CA483164101 | SACS | c.1551G>A (p.Glu517=) n.1689G>A c.1542G>A (p.Glu514=) n.3908G>A c.-700G>A (n.-700G>A) c.423G>A (p.Glu141=) c.1249G>A c.1110G>A (p.Glu370=) c.1575G>A (p.Glu525=) | ClinVar |
| 13 | g.23355062T>A | CA387547877 | SACS | c.1550A>T (p.Glu517Val) n.1688A>T c.1541A>T (p.Glu514Val) n.3907A>T c.-701A>T (n.-701A>T) c.422A>T (p.Glu141Val) c.1248A>T c.1109A>T (p.Glu370Val) c.1574A>T (p.Glu525Val) | |
| 13 | g.23355062T>C | CA387547879 | SACS | c.1550A>G (p.Glu517Gly) n.1688A>G c.1541A>G (p.Glu514Gly) n.3907A>G c.-701A>G (n.-701A>G) c.422A>G (p.Glu141Gly) c.1248A>G c.1109A>G (p.Glu370Gly) c.1574A>G (p.Glu525Gly) | dbSNP |
| 13 | g.23355062T>G | CA387547881 | SACS | c.1550A>C (p.Glu517Ala) n.1688A>C c.1541A>C (p.Glu514Ala) n.3907A>C c.-701A>C (n.-701A>C) c.422A>C (p.Glu141Ala) c.1248A>C c.1109A>C (p.Glu370Ala) c.1574A>C (p.Glu525Ala) | dbSNP |
| 13 | g.23355062T= | CA2078658186 | SACS | c.1550A= (p.Glu517=) n.1688A= c.1541A= (p.Glu514=) n.3907A= c.-701A= (n.-701A=) c.422A= (p.Glu141=) c.1248A= c.1109A= (p.Glu370=) c.1574A= (p.Glu525=) | |
| 13 | g.23355063C>A | CA387547883 | SACS | c.1549G>T (p.Glu517Ter) n.1687G>T c.1540G>T (p.Glu514Ter) n.3906G>T c.-702G>T (n.-702G>T) c.421G>T (p.Glu141Ter) c.1247G>T c.1108G>T (p.Glu370Ter) c.1573G>T (p.Glu525Ter) | |
| 13 | g.23355063C>G | CA387547886 | SACS | c.1549G>C (p.Glu517Gln) n.1687G>C c.1540G>C (p.Glu514Gln) n.3906G>C c.-702G>C (n.-702G>C) c.421G>C (p.Glu141Gln) c.1247G>C c.1108G>C (p.Glu370Gln) c.1573G>C (p.Glu525Gln) | |
| 13 | g.23355063C>T | CA387547887 | SACS | c.1549G>A (p.Glu517Lys) n.1687G>A c.1540G>A (p.Glu514Lys) n.3906G>A c.-702G>A (n.-702G>A) c.421G>A (p.Glu141Lys) c.1247G>A c.1108G>A (p.Glu370Lys) c.1573G>A (p.Glu525Lys) | |
| 13 | g.23355063_23355065delinsCCA | CA2078658187 | SACS | c.1547_1549delinsTGG (p.Leu516=) n.1685_1687delinsTGG c.1538_1540delinsTGG (p.Leu513=) n.3904_3906delinsTGG c.-704_-702delinsTGG (n.-704_-702delinsTGG) c.419_421delinsTGG (p.Leu140=) c.1245_1247delinsTGG c.1106_1108delinsTGG (p.Leu369=) c.1571_1573delinsTGG (p.Leu524=) | |
| 13 | g.23355064C>A | CA483164105 | SACS | c.1548G>T (p.Leu516=) n.1686G>T c.1539G>T (p.Leu513=) n.3905G>T c.-703G>T (n.-703G>T) c.420G>T (p.Leu140=) c.1246G>T c.1107G>T (p.Leu369=) c.1572G>T (p.Leu524=) | |
| 13 | g.23355064C= | CA2078658188 | SACS | c.1548G= (p.Leu516=) n.1686G= c.1539G= (p.Leu513=) n.3905G= c.-703G= (n.-703G=) c.420G= (p.Leu140=) c.1246G= c.1107G= (p.Leu369=) c.1572G= (p.Leu524=) | |
| 13 | g.23355064C>G | CA483164106 | SACS | c.1548G>C (p.Leu516=) n.1686G>C c.1539G>C (p.Leu513=) n.3905G>C c.-703G>C (n.-703G>C) c.420G>C (p.Leu140=) c.1246G>C c.1107G>C (p.Leu369=) c.1572G>C (p.Leu524=) | |
| 13 | g.23355064C>T | CA483164107 | SACS | c.1548G>A (p.Leu516=) n.1686G>A c.1539G>A (p.Leu513=) n.3905G>A c.-703G>A (n.-703G>A) c.420G>A (p.Leu140=) c.1246G>A c.1107G>A (p.Leu369=) c.1572G>A (p.Leu524=) | dbSNP gnomAD v4 |
| 13 | g.23355064_23355065del | CA954042318 | SACS | c.1547_1548del (p.Leu516ArgfsTer7) n.1685_1686del c.1538_1539del (p.Leu513ArgfsTer7) n.3904_3905del c.-704_-703del (n.-704_-703del) c.419_420del (p.Leu140ArgfsTer7) c.1245_1246del c.1106_1107del (p.Leu369ArgfsTer7) c.1571_1572del (p.Leu524ArgfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355065A>C | CA387547894 | SACS | c.1547T>G (p.Leu516Arg) n.1685T>G c.1538T>G (p.Leu513Arg) n.3904T>G c.-704T>G (n.-704T>G) c.419T>G (p.Leu140Arg) c.1245T>G c.1106T>G (p.Leu369Arg) c.1571T>G (p.Leu524Arg) | |
| 13 | g.23355065A>G | CA387547890 | SACS | c.1547T>C (p.Leu516Pro) n.1685T>C c.1538T>C (p.Leu513Pro) n.3904T>C c.-704T>C (n.-704T>C) c.419T>C (p.Leu140Pro) c.1245T>C c.1106T>C (p.Leu369Pro) c.1571T>C (p.Leu524Pro) | |
| 13 | g.23355065A>T | CA387547892 | SACS | c.1547T>A (p.Leu516Gln) n.1685T>A c.1538T>A (p.Leu513Gln) n.3904T>A c.-704T>A (n.-704T>A) c.419T>A (p.Leu140Gln) c.1245T>A c.1106T>A (p.Leu369Gln) c.1571T>A (p.Leu524Gln) | |
| 13 | g.23355066G>A | CA483164108 | SACS | c.1546C>T (p.Leu516=) n.1684C>T c.1537C>T (p.Leu513=) n.3903C>T c.-705C>T (n.-705C>T) c.418C>T (p.Leu140=) c.1244C>T c.1105C>T (p.Leu369=) c.1570C>T (p.Leu524=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 13 | g.23355066G>C | CA6911898 | SACS | c.1546C>G (p.Leu516Val) n.1684C>G c.1537C>G (p.Leu513Val) n.3903C>G c.-705C>G (n.-705C>G) c.418C>G (p.Leu140Val) c.1244C>G c.1105C>G (p.Leu369Val) c.1570C>G (p.Leu524Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355066G= | CA2078658189 | SACS | c.1546C= (p.Leu516=) n.1684C= c.1537C= (p.Leu513=) n.3903C= c.-705C= (n.-705C=) c.418C= (p.Leu140=) c.1244C= c.1105C= (p.Leu369=) c.1570C= (p.Leu524=) | |
| 13 | g.23355066G>T | CA387547898 | SACS | c.1546C>A (p.Leu516Met) n.1684C>A c.1537C>A (p.Leu513Met) n.3903C>A c.-705C>A (n.-705C>A) c.418C>A (p.Leu140Met) c.1244C>A c.1105C>A (p.Leu369Met) c.1570C>A (p.Leu524Met) | |
| 13 | g.23355067A>C | CA483164109 | SACS | c.1545T>G (p.Arg515=) n.1683T>G c.1536T>G (p.Arg512=) n.3902T>G c.-706T>G (n.-706T>G) c.417T>G (p.Arg139=) c.1243T>G c.1104T>G (p.Arg368=) c.1569T>G (p.Arg523=) | gnomAD v4 |
| 13 | g.23355067A>G | CA483164110 | SACS | c.1545T>C (p.Arg515=) n.1683T>C c.1536T>C (p.Arg512=) n.3902T>C c.-706T>C (n.-706T>C) c.417T>C (p.Arg139=) c.1243T>C c.1104T>C (p.Arg368=) c.1569T>C (p.Arg523=) | gnomAD v4 |
| 13 | g.23355067A>T | CA483164111 | SACS | c.1545T>A (p.Arg515=) n.1683T>A c.1536T>A (p.Arg512=) n.3902T>A c.-706T>A (n.-706T>A) c.417T>A (p.Arg139=) c.1243T>A c.1104T>A (p.Arg368=) c.1569T>A (p.Arg523=) | |
| 13 | g.23355068C>A | CA387547900 | SACS | c.1544G>T (p.Arg515Leu) n.1682G>T c.1535G>T (p.Arg512Leu) n.3901G>T c.-707G>T (n.-707G>T) c.416G>T (p.Arg139Leu) c.1242G>T c.1103G>T (p.Arg368Leu) c.1568G>T (p.Arg523Leu) | |
| 13 | g.23355068C= | CA2078658191 | SACS | c.1544G= (p.Arg515=) n.1682G= c.1535G= (p.Arg512=) n.3901G= c.-707G= (n.-707G=) c.416G= (p.Arg139=) c.1242G= c.1103G= (p.Arg368=) c.1568G= (p.Arg523=) | |
| 13 | g.23355068C>G | CA6911899 | SACS | c.1544G>C (p.Arg515Pro) n.1682G>C c.1535G>C (p.Arg512Pro) n.3901G>C c.-707G>C (n.-707G>C) c.416G>C (p.Arg139Pro) c.1242G>C c.1103G>C (p.Arg368Pro) c.1568G>C (p.Arg523Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355068C>T | CA6911900 | SACS | c.1544G>A (p.Arg515His) n.1682G>A c.1535G>A (p.Arg512His) n.3901G>A c.-707G>A (n.-707G>A) c.416G>A (p.Arg139His) c.1242G>A c.1103G>A (p.Arg368His) c.1568G>A (p.Arg523His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355069G>A | CA6911901 | SACS | c.1543C>T (p.Arg515Cys) n.1681C>T c.1534C>T (p.Arg512Cys) n.3900C>T c.-708C>T (n.-708C>T) c.415C>T (p.Arg139Cys) c.1241C>T c.1102C>T (p.Arg368Cys) c.1567C>T (p.Arg523Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355069G>C | CA387547906 | SACS | c.1543C>G (p.Arg515Gly) n.1681C>G c.1534C>G (p.Arg512Gly) n.3900C>G c.-708C>G (n.-708C>G) c.415C>G (p.Arg139Gly) c.1241C>G c.1102C>G (p.Arg368Gly) c.1567C>G (p.Arg523Gly) | |
| 13 | g.23355069G= | CA2078658194 | SACS | c.1543C= (p.Arg515=) n.1681C= c.1534C= (p.Arg512=) n.3900C= c.-708C= (n.-708C=) c.415C= (p.Arg139=) c.1241C= c.1102C= (p.Arg368=) c.1567C= (p.Arg523=) | |
| 13 | g.23355069G>T | CA387547908 | SACS | c.1543C>A (p.Arg515Ser) n.1681C>A c.1534C>A (p.Arg512Ser) n.3900C>A c.-708C>A (n.-708C>A) c.415C>A (p.Arg139Ser) c.1241C>A c.1102C>A (p.Arg368Ser) c.1567C>A (p.Arg523Ser) | dbSNP |
| 13 | g.23355070T>A | CA387547911 | SACS | c.1542A>T (p.Lys514Asn) n.1680A>T c.1533A>T (p.Lys511Asn) n.3899A>T c.-709A>T (n.-709A>T) c.414A>T (p.Lys138Asn) c.1240A>T c.1101A>T (p.Lys367Asn) c.1566A>T (p.Lys522Asn) | |
| 13 | g.23355070T>C | CA483164115 | SACS | c.1542A>G (p.Lys514=) n.1680A>G c.1533A>G (p.Lys511=) n.3899A>G c.-709A>G (n.-709A>G) c.414A>G (p.Lys138=) c.1240A>G c.1101A>G (p.Lys367=) c.1566A>G (p.Lys522=) | |
| 13 | g.23355070T>G | CA387547913 | SACS | c.1542A>C (p.Lys514Asn) n.1680A>C c.1533A>C (p.Lys511Asn) n.3899A>C c.-709A>C (n.-709A>C) c.414A>C (p.Lys138Asn) c.1240A>C c.1101A>C (p.Lys367Asn) c.1566A>C (p.Lys522Asn) | |
| 13 | g.23355073dup | CA2573149130 | SACS | c.1542dup (p.Arg515ThrfsTer9) n.1680dup c.1533dup (p.Arg512ThrfsTer9) n.3899dup c.-709dup (n.-709dup) c.414dup (p.Arg139ThrfsTer9) c.1240dup c.1101dup (p.Arg368ThrfsTer9) c.1566dup (p.Arg523ThrfsTer9) | ClinVar dbSNP |
| 13 | g.23355071T>A | CA387547917 | SACS | c.1541A>T (p.Lys514Ile) n.1679A>T c.1532A>T (p.Lys511Ile) n.3898A>T c.-710A>T (n.-710A>T) c.413A>T (p.Lys138Ile) c.1239A>T c.1100A>T (p.Lys367Ile) c.1565A>T (p.Lys522Ile) | |
| 13 | g.23355071T>C | CA387547919 | SACS | c.1541A>G (p.Lys514Arg) n.1679A>G c.1532A>G (p.Lys511Arg) n.3898A>G c.-710A>G (n.-710A>G) c.413A>G (p.Lys138Arg) c.1239A>G c.1100A>G (p.Lys367Arg) c.1565A>G (p.Lys522Arg) | |
| 13 | g.23355071T>G | CA387547915 | SACS | c.1541A>C (p.Lys514Thr) n.1679A>C c.1532A>C (p.Lys511Thr) n.3898A>C c.-710A>C (n.-710A>C) c.413A>C (p.Lys138Thr) c.1239A>C c.1100A>C (p.Lys367Thr) c.1565A>C (p.Lys522Thr) | |
| 13 | g.23355072T>A | CA387547922 | SACS | c.1540A>T (p.Lys514Ter) n.1678A>T c.1531A>T (p.Lys511Ter) n.3897A>T c.-711A>T (n.-711A>T) c.412A>T (p.Lys138Ter) c.1238A>T c.1099A>T (p.Lys367Ter) c.1564A>T (p.Lys522Ter) | |
| 13 | g.23355072T>C | CA387547924 | SACS | c.1540A>G (p.Lys514Glu) n.1678A>G c.1531A>G (p.Lys511Glu) n.3897A>G c.-711A>G (n.-711A>G) c.412A>G (p.Lys138Glu) c.1238A>G c.1099A>G (p.Lys367Glu) c.1564A>G (p.Lys522Glu) | |
| 13 | g.23355072T>G | CA387547926 | SACS | c.1540A>C (p.Lys514Gln) n.1678A>C c.1531A>C (p.Lys511Gln) n.3897A>C c.-711A>C (n.-711A>C) c.412A>C (p.Lys138Gln) c.1238A>C c.1099A>C (p.Lys367Gln) c.1564A>C (p.Lys522Gln) | gnomAD v4 COSMIC COSMIC |
| 13 | g.23355073T>A | CA483164119 | SACS | c.1539A>T (p.Ile513=) n.1677A>T c.1530A>T (p.Ile510=) n.3896A>T c.-712A>T (n.-712A>T) c.411A>T (p.Ile137=) c.1237A>T c.1098A>T (p.Ile366=) c.1563A>T (p.Ile521=) | |
| 13 | g.23355073T>C | CA387547928 | SACS | c.1539A>G (p.Ile513Met) n.1677A>G c.1530A>G (p.Ile510Met) n.3896A>G c.-712A>G (n.-712A>G) c.411A>G (p.Ile137Met) c.1237A>G c.1098A>G (p.Ile366Met) c.1563A>G (p.Ile521Met) | |
| 13 | g.23355073T>G | CA483164120 | SACS | c.1539A>C (p.Ile513=) n.1677A>C c.1530A>C (p.Ile510=) n.3896A>C c.-712A>C (n.-712A>C) c.411A>C (p.Ile137=) c.1237A>C c.1098A>C (p.Ile366=) c.1563A>C (p.Ile521=) | |
| 13 | g.23355074A>C | CA387547931 | SACS | c.1538T>G (p.Ile513Arg) n.1676T>G c.1529T>G (p.Ile510Arg) n.3895T>G c.-713T>G (n.-713T>G) c.410T>G (p.Ile137Arg) c.1236T>G c.1097T>G (p.Ile366Arg) c.1562T>G (p.Ile521Arg) | |
| 13 | g.23355074A>G | CA387547933 | SACS | c.1538T>C (p.Ile513Thr) n.1676T>C c.1529T>C (p.Ile510Thr) n.3895T>C c.-713T>C (n.-713T>C) c.410T>C (p.Ile137Thr) c.1236T>C c.1097T>C (p.Ile366Thr) c.1562T>C (p.Ile521Thr) | |
| 13 | g.23355074A>T | CA387547935 | SACS | c.1538T>A (p.Ile513Lys) n.1676T>A c.1529T>A (p.Ile510Lys) n.3895T>A c.-713T>A (n.-713T>A) c.410T>A (p.Ile137Lys) c.1236T>A c.1097T>A (p.Ile366Lys) c.1562T>A (p.Ile521Lys) | |
| 13 | g.23355075T>A | CA387547937 | SACS | c.1537A>T (p.Ile513Leu) n.1675A>T c.1528A>T (p.Ile510Leu) n.3894A>T c.-714A>T (n.-714A>T) c.409A>T (p.Ile137Leu) c.1235A>T c.1096A>T (p.Ile366Leu) c.1561A>T (p.Ile521Leu) | |
| 13 | g.23355075T>C | CA6911902 | SACS | c.1537A>G (p.Ile513Val) n.1675A>G c.1528A>G (p.Ile510Val) n.3894A>G c.-714A>G (n.-714A>G) c.409A>G (p.Ile137Val) c.1235A>G c.1096A>G (p.Ile366Val) c.1561A>G (p.Ile521Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355075T>G | CA387547940 | SACS | c.1537A>C (p.Ile513Leu) n.1675A>C c.1528A>C (p.Ile510Leu) n.3894A>C c.-714A>C (n.-714A>C) c.409A>C (p.Ile137Leu) c.1235A>C c.1096A>C (p.Ile366Leu) c.1561A>C (p.Ile521Leu) | |
| 13 | g.23355075T= | CA2078658197 | SACS | c.1537A= (p.Ile513=) n.1675A= c.1528A= (p.Ile510=) n.3894A= c.-714A= (n.-714A=) c.409A= (p.Ile137=) c.1235A= c.1096A= (p.Ile366=) c.1561A= (p.Ile521=) | |
| 13 | g.23355076T>A | CA483164161 | SACS | c.1536A>T (p.Ser512=) n.1674A>T c.1527A>T (p.Ser509=) n.3893A>T c.-715A>T (n.-715A>T) c.408A>T (p.Ser136=) c.1234A>T c.1095A>T (p.Ser365=) c.1560A>T (p.Ser520=) | |
| 13 | g.23355076T>C | CA483164162 | SACS | c.1536A>G (p.Ser512=) n.1674A>G c.1527A>G (p.Ser509=) n.3893A>G c.-715A>G (n.-715A>G) c.408A>G (p.Ser136=) c.1234A>G c.1095A>G (p.Ser365=) c.1560A>G (p.Ser520=) | dbSNP |
| 13 | g.23355076T>G | CA483164163 | SACS | c.1536A>C (p.Ser512=) n.1674A>C c.1527A>C (p.Ser509=) n.3893A>C c.-715A>C (n.-715A>C) c.408A>C (p.Ser136=) c.1234A>C c.1095A>C (p.Ser365=) c.1560A>C (p.Ser520=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23355076T= | CA2078658200 | SACS | c.1536A= (p.Ser512=) n.1674A= c.1527A= (p.Ser509=) n.3893A= c.-715A= (n.-715A=) c.408A= (p.Ser136=) c.1234A= c.1095A= (p.Ser365=) c.1560A= (p.Ser520=) | |
| 13 | g.23355077G>A | CA387547941 | SACS | c.1535C>T (p.Ser512Leu) n.1673C>T c.1526C>T (p.Ser509Leu) n.3892C>T c.-716C>T (n.-716C>T) c.407C>T (p.Ser136Leu) c.1233C>T c.1094C>T (p.Ser365Leu) c.1559C>T (p.Ser520Leu) | |
| 13 | g.23355077G>C | CA387547943 | SACS | c.1535C>G (p.Ser512Ter) n.1673C>G c.1526C>G (p.Ser509Ter) n.3892C>G c.-716C>G (n.-716C>G) c.407C>G (p.Ser136Ter) c.1233C>G c.1094C>G (p.Ser365Ter) c.1559C>G (p.Ser520Ter) | |
| 13 | g.23355077G>T | CA387547945 | SACS | c.1535C>A (p.Ser512Ter) n.1673C>A c.1526C>A (p.Ser509Ter) n.3892C>A c.-716C>A (n.-716C>A) c.407C>A (p.Ser136Ter) c.1233C>A c.1094C>A (p.Ser365Ter) c.1559C>A (p.Ser520Ter) | |
| 13 | g.23355078A>C | CA387547952 | SACS | c.1534T>G (p.Ser512Ala) n.1672T>G c.1525T>G (p.Ser509Ala) n.3891T>G c.-717T>G (n.-717T>G) c.406T>G (p.Ser136Ala) c.1232T>G c.1093T>G (p.Ser365Ala) c.1558T>G (p.Ser520Ala) | |
| 13 | g.23355078A>G | CA387547950 | SACS | c.1534T>C (p.Ser512Pro) n.1672T>C c.1525T>C (p.Ser509Pro) n.3891T>C c.-717T>C (n.-717T>C) c.406T>C (p.Ser136Pro) c.1232T>C c.1093T>C (p.Ser365Pro) c.1558T>C (p.Ser520Pro) | |
| 13 | g.23355078A>T | CA387547948 | SACS | c.1534T>A (p.Ser512Thr) n.1672T>A c.1525T>A (p.Ser509Thr) n.3891T>A c.-717T>A (n.-717T>A) c.406T>A (p.Ser136Thr) c.1232T>A c.1093T>A (p.Ser365Thr) c.1558T>A (p.Ser520Thr) | |
| 13 | g.23355079A= | CA2078658203 | SACS | c.1533T= (p.Asp511=) n.1671T= c.1524T= (p.Asp508=) n.3890T= c.-718T= (n.-718T=) c.405T= (p.Asp135=) c.1231T= c.1092T= (p.Asp364=) c.1557T= (p.Asp519=) | |
| 13 | g.23355079A>C | CA6911903 | SACS | c.1533T>G (p.Asp511Glu) n.1671T>G c.1524T>G (p.Asp508Glu) n.3890T>G c.-718T>G (n.-718T>G) c.405T>G (p.Asp135Glu) c.1231T>G c.1092T>G (p.Asp364Glu) c.1557T>G (p.Asp519Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23355079A>G | CA483164164 | SACS | c.1533T>C (p.Asp511=) n.1671T>C c.1524T>C (p.Asp508=) n.3890T>C c.-718T>C (n.-718T>C) c.405T>C (p.Asp135=) c.1231T>C c.1092T>C (p.Asp364=) c.1557T>C (p.Asp519=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355079A>T | CA387547956 | SACS | c.1533T>A (p.Asp511Glu) n.1671T>A c.1524T>A (p.Asp508Glu) n.3890T>A c.-718T>A (n.-718T>A) c.405T>A (p.Asp135Glu) c.1231T>A c.1092T>A (p.Asp364Glu) c.1557T>A (p.Asp519Glu) | |
| 13 | g.23355080T>A | CA387547959 | SACS | c.1532A>T (p.Asp511Val) n.1670A>T c.1523A>T (p.Asp508Val) n.3889A>T c.-719A>T (n.-719A>T) c.404A>T (p.Asp135Val) c.1230A>T c.1091A>T (p.Asp364Val) c.1556A>T (p.Asp519Val) | |
| 13 | g.23355080T>C | CA387547961 | SACS | c.1532A>G (p.Asp511Gly) n.1670A>G c.1523A>G (p.Asp508Gly) n.3889A>G c.-719A>G (n.-719A>G) c.404A>G (p.Asp135Gly) c.1230A>G c.1091A>G (p.Asp364Gly) c.1556A>G (p.Asp519Gly) | |
| 13 | g.23355080T>G | CA387547963 | SACS | c.1532A>C (p.Asp511Ala) n.1670A>C c.1523A>C (p.Asp508Ala) n.3889A>C c.-719A>C (n.-719A>C) c.404A>C (p.Asp135Ala) c.1230A>C c.1091A>C (p.Asp364Ala) c.1556A>C (p.Asp519Ala) | |
| 13 | g.23355080_23355081insA | CA2580086858 | SACS | c.1531_1532insT (p.Asp511ValfsTer13) n.1669_1670insT c.1522_1523insT (p.Asp508ValfsTer13) n.3888_3889insT c.-720_-719insT (n.-720_-719insT) c.403_404insT (p.Asp135ValfsTer13) c.1229_1230insT c.1090_1091insT (p.Asp364ValfsTer13) c.1555_1556insT (p.Asp519ValfsTer13) | ClinVar |
| 13 | g.23355081C>A | CA387547966 | SACS | c.1531G>T (p.Asp511Tyr) n.1669G>T c.1522G>T (p.Asp508Tyr) n.3888G>T c.-720G>T (n.-720G>T) c.403G>T (p.Asp135Tyr) c.1229G>T c.1090G>T (p.Asp364Tyr) c.1555G>T (p.Asp519Tyr) | |
| 13 | g.23355081C>G | CA387547968 | SACS | c.1531G>C (p.Asp511His) n.1669G>C c.1522G>C (p.Asp508His) n.3888G>C c.-720G>C (n.-720G>C) c.403G>C (p.Asp135His) c.1229G>C c.1090G>C (p.Asp364His) c.1555G>C (p.Asp519His) | |
| 13 | g.23355081C>T | CA387547970 | SACS | c.1531G>A (p.Asp511Asn) n.1669G>A c.1522G>A (p.Asp508Asn) n.3888G>A c.-720G>A (n.-720G>A) c.403G>A (p.Asp135Asn) c.1229G>A c.1090G>A (p.Asp364Asn) c.1555G>A (p.Asp519Asn) | |
| 13 | g.23355082T>A | CA387547972 | SACS | c.1530A>T (p.Leu510Phe) n.1668A>T c.1521A>T (p.Leu507Phe) n.3887A>T c.-721A>T (n.-721A>T) c.402A>T (p.Leu134Phe) c.1228A>T c.1089A>T (p.Leu363Phe) c.1554A>T (p.Leu518Phe) | |
| 13 | g.23355082T>C | CA483164165 | SACS | c.1530A>G (p.Leu510=) n.1668A>G c.1521A>G (p.Leu507=) n.3887A>G c.-721A>G (n.-721A>G) c.402A>G (p.Leu134=) c.1228A>G c.1089A>G (p.Leu363=) c.1554A>G (p.Leu518=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355082T>G | CA387547973 | SACS | c.1530A>C (p.Leu510Phe) n.1668A>C c.1521A>C (p.Leu507Phe) n.3887A>C c.-721A>C (n.-721A>C) c.402A>C (p.Leu134Phe) c.1228A>C c.1089A>C (p.Leu363Phe) c.1554A>C (p.Leu518Phe) | |
| 13 | g.23355082T= | CA2078658206 | SACS | c.1530A= (p.Leu510=) n.1668A= c.1521A= (p.Leu507=) n.3887A= c.-721A= (n.-721A=) c.402A= (p.Leu134=) c.1228A= c.1089A= (p.Leu363=) c.1554A= (p.Leu518=) | |
| 13 | g.23355083A>C | CA387547975 | SACS | c.1529T>G (p.Leu510Ter) n.1667T>G c.1520T>G (p.Leu507Ter) n.3886T>G c.-722T>G (n.-722T>G) c.401T>G (p.Leu134Ter) c.1227T>G c.1088T>G (p.Leu363Ter) c.1553T>G (p.Leu518Ter) | |
| 13 | g.23355083A>G | CA387547977 | SACS | c.1529T>C (p.Leu510Ser) n.1667T>C c.1520T>C (p.Leu507Ser) n.3886T>C c.-722T>C (n.-722T>C) c.401T>C (p.Leu134Ser) c.1227T>C c.1088T>C (p.Leu363Ser) c.1553T>C (p.Leu518Ser) | |
| 13 | g.23355083A>T | CA387547979 | SACS | c.1529T>A (p.Leu510Ter) n.1667T>A c.1520T>A (p.Leu507Ter) n.3886T>A c.-722T>A (n.-722T>A) c.401T>A (p.Leu134Ter) c.1227T>A c.1088T>A (p.Leu363Ter) c.1553T>A (p.Leu518Ter) | |
| 13 | g.23355083_23355085delinsAAG | CA2078658210 | SACS | c.1527_1529delinsCTT (p.Ile509=) n.1665_1667delinsCTT c.1518_1520delinsCTT (p.Ile506=) n.3884_3886delinsCTT c.-724_-722delinsCTT (n.-724_-722delinsCTT) c.399_401delinsCTT (p.Ile133=) c.1225_1227delinsCTT c.1086_1088delinsCTT (p.Ile362=) c.1551_1553delinsCTT (p.Ile517=) | |
| 13 | g.23355084A>C | CA387547981 | SACS | c.1528T>G (p.Leu510Val) n.1666T>G c.1519T>G (p.Leu507Val) n.3885T>G c.-723T>G (n.-723T>G) c.400T>G (p.Leu134Val) c.1226T>G c.1087T>G (p.Leu363Val) c.1552T>G (p.Leu518Val) | gnomAD v4 |
| 13 | g.23355084A>G | CA483164166 | SACS | c.1528T>C (p.Leu510=) n.1666T>C c.1519T>C (p.Leu507=) n.3885T>C c.-723T>C (n.-723T>C) c.400T>C (p.Leu134=) c.1226T>C c.1087T>C (p.Leu363=) c.1552T>C (p.Leu518=) | ClinVar dbSNP |
| 13 | g.23355084A>T | CA387547982 | SACS | c.1528T>A (p.Leu510Ile) n.1666T>A c.1519T>A (p.Leu507Ile) n.3885T>A c.-723T>A (n.-723T>A) c.400T>A (p.Leu134Ile) c.1226T>A c.1087T>A (p.Leu363Ile) c.1552T>A (p.Leu518Ile) | |
| 13 | g.23355085_23355086del | CA2078658212 | SACS | c.1527_1528del (p.Leu510ArgfsTer13) n.1665_1666del c.1518_1519del (p.Leu507ArgfsTer13) n.3884_3885del c.-724_-723del (n.-724_-723del) c.399_400del (p.Leu134ArgfsTer13) c.1225_1226del c.1086_1087del (p.Leu363ArgfsTer13) c.1551_1552del (p.Leu518ArgfsTer13) | dbSNP |
| 13 | g.23355085G>A | CA483164167 | SACS | c.1527C>T (p.Ile509=) n.1665C>T c.1518C>T (p.Ile506=) n.3884C>T c.-724C>T (n.-724C>T) c.399C>T (p.Ile133=) c.1225C>T c.1086C>T (p.Ile362=) c.1551C>T (p.Ile517=) | gnomAD v4 |
| 13 | g.23355085G>C | CA387547984 | SACS | c.1527C>G (p.Ile509Met) n.1665C>G c.1518C>G (p.Ile506Met) n.3884C>G c.-724C>G (n.-724C>G) c.399C>G (p.Ile133Met) c.1225C>G c.1086C>G (p.Ile362Met) c.1551C>G (p.Ile517Met) | |
| 13 | g.23355085G>T | CA483164168 | SACS | c.1527C>A (p.Ile509=) n.1665C>A c.1518C>A (p.Ile506=) n.3884C>A c.-724C>A (n.-724C>A) c.399C>A (p.Ile133=) c.1225C>A c.1086C>A (p.Ile362=) c.1551C>A (p.Ile517=) | |
| 13 | g.23355086A>C | CA387547990 | SACS | c.1526T>G (p.Ile509Ser) n.1664T>G c.1517T>G (p.Ile506Ser) n.3883T>G c.-725T>G (n.-725T>G) c.398T>G (p.Ile133Ser) c.1224T>G c.1085T>G (p.Ile362Ser) c.1550T>G (p.Ile517Ser) | |
| 13 | g.23355086A>G | CA387547986 | SACS | c.1526T>C (p.Ile509Thr) n.1664T>C c.1517T>C (p.Ile506Thr) n.3883T>C c.-725T>C (n.-725T>C) c.398T>C (p.Ile133Thr) c.1224T>C c.1085T>C (p.Ile362Thr) c.1550T>C (p.Ile517Thr) | |
| 13 | g.23355086A>T | CA387547988 | SACS | c.1526T>A (p.Ile509Asn) n.1664T>A c.1517T>A (p.Ile506Asn) n.3883T>A c.-725T>A (n.-725T>A) c.398T>A (p.Ile133Asn) c.1224T>A c.1085T>A (p.Ile362Asn) c.1550T>A (p.Ile517Asn) | |
| 13 | g.23355087T>A | CA387547993 | SACS | c.1525A>T (p.Ile509Phe) n.1663A>T c.1516A>T (p.Ile506Phe) n.3882A>T c.-726A>T (n.-726A>T) c.397A>T (p.Ile133Phe) c.1223A>T c.1084A>T (p.Ile362Phe) c.1549A>T (p.Ile517Phe) | |
| 13 | g.23355087T>C | CA387547994 | SACS | c.1525A>G (p.Ile509Val) n.1663A>G c.1516A>G (p.Ile506Val) n.3882A>G c.-726A>G (n.-726A>G) c.397A>G (p.Ile133Val) c.1223A>G c.1084A>G (p.Ile362Val) c.1549A>G (p.Ile517Val) | ClinVar dbSNP |
| 13 | g.23355087T>G | CA387547996 | SACS | c.1525A>C (p.Ile509Leu) n.1663A>C c.1516A>C (p.Ile506Leu) n.3882A>C c.-726A>C (n.-726A>C) c.397A>C (p.Ile133Leu) c.1223A>C c.1084A>C (p.Ile362Leu) c.1549A>C (p.Ile517Leu) | |
| 13 | g.23355087T= | CA2078658216 | SACS | c.1525A= (p.Ile509=) n.1663A= c.1516A= (p.Ile506=) n.3882A= c.-726A= (n.-726A=) c.397A= (p.Ile133=) c.1223A= c.1084A= (p.Ile362=) c.1549A= (p.Ile517=) |