| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23354972G>A | CA6911879 | SACS | c.1640C>T (p.Pro547Leu) n.1778C>T c.1631C>T (p.Pro544Leu) n.3997C>T c.-611C>T (n.-611C>T) c.512C>T (p.Pro171Leu) c.1338C>T c.1199C>T (p.Pro400Leu) c.1664C>T (p.Pro555Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.[23354972G>A;23354978C>A] | CA658682655 | SACS | c.[1634G>T;1640C>T] (p.[Trp545Leu;Pro547Leu]) n.[1772G>T;1778C>T] c.[1625G>T;1631C>T] (p.[Trp542Leu;Pro544Leu]) n.[3991G>T;3997C>T] c.[-617G>T;-611C>T] (n.[-617G>T;-611C>T]) c.[506G>T;512C>T] (p.[Trp169Leu;Pro171Leu]) c.[1332G>T;1338C>T] c.[1193G>T;1199C>T] (p.[Trp398Leu;Pro400Leu]) c.[1658G>T;1664C>T] (p.[Trp553Leu;Pro555Leu]) | ClinVar |
| 13 | g.23354972G>C | CA246677416 | SACS | c.1640C>G (p.Pro547Arg) n.1778C>G c.1631C>G (p.Pro544Arg) n.3997C>G c.-611C>G (n.-611C>G) c.512C>G (p.Pro171Arg) c.1338C>G c.1199C>G (p.Pro400Arg) c.1664C>G (p.Pro555Arg) | dbSNP |
| 13 | g.23354972G= | CA2078658077 | SACS | c.1640C= (p.Pro547=) n.1778C= c.1631C= (p.Pro544=) n.3997C= c.-611C= (n.-611C=) c.512C= (p.Pro171=) c.1338C= c.1199C= (p.Pro400=) c.1664C= (p.Pro555=) | |
| 13 | g.23354972G>T | CA387547423 | SACS | c.1640C>A (p.Pro547Gln) n.1778C>A c.1631C>A (p.Pro544Gln) n.3997C>A c.-611C>A (n.-611C>A) c.512C>A (p.Pro171Gln) c.1338C>A c.1199C>A (p.Pro400Gln) c.1664C>A (p.Pro555Gln) | |
| 13 | g.23354973del | CA2622331276 | SACS | c.1640del (p.Pro547ArgfsTer3) n.1778del c.1631del (p.Pro544ArgfsTer3) n.3997del c.-611del (n.-611del) c.512del (p.Pro171ArgfsTer3) c.1338del c.1199del (p.Pro400ArgfsTer3) c.1664del (p.Pro555ArgfsTer3) | gnomAD v4 |
| 13 | g.23354972_23354978delinsAGTTGCA | CA2695217759 | SACS | c.1634_1640delinsTGCAACT (p.Trp545_Pro547delinsLeuGlnLeu) n.1772_1778delinsTGCAACT c.1625_1631delinsTGCAACT (p.Trp542_Pro544delinsLeuGlnLeu) n.3991_3997delinsTGCAACT c.-617_-611delinsTGCAACT (n.-617_-611delinsTGCAACT) c.506_512delinsTGCAACT (p.Trp169_Pro171delinsLeuGlnLeu) c.1332_1338delinsTGCAACT c.1193_1199delinsTGCAACT (p.Trp398_Pro400delinsLeuGlnLeu) c.1658_1664delinsTGCAACT (p.Trp553_Pro555delinsLeuGlnLeu) | |
| 13 | g.23354973G>A | CA387547429 | SACS | c.1639C>T (p.Pro547Ser) n.1777C>T c.1630C>T (p.Pro544Ser) n.3996C>T c.-612C>T (n.-612C>T) c.511C>T (p.Pro171Ser) c.1337C>T c.1198C>T (p.Pro400Ser) c.1663C>T (p.Pro555Ser) | |
| 13 | g.23354973G>C | CA387547430 | SACS | c.1639C>G (p.Pro547Ala) n.1777C>G c.1630C>G (p.Pro544Ala) n.3996C>G c.-612C>G (n.-612C>G) c.511C>G (p.Pro171Ala) c.1337C>G c.1198C>G (p.Pro400Ala) c.1663C>G (p.Pro555Ala) | ClinVar dbSNP |
| 13 | g.23354973G>T | CA387547431 | SACS | c.1639C>A (p.Pro547Thr) n.1777C>A c.1630C>A (p.Pro544Thr) n.3996C>A c.-612C>A (n.-612C>A) c.511C>A (p.Pro171Thr) c.1337C>A c.1198C>A (p.Pro400Thr) c.1663C>A (p.Pro555Thr) | |
| 13 | g.23354974T>A | CA387547435 | SACS | c.1638A>T (p.Gln546His) n.1776A>T c.1629A>T (p.Gln543His) n.3995A>T c.-613A>T (n.-613A>T) c.510A>T (p.Gln170His) c.1336A>T c.1197A>T (p.Gln399His) c.1662A>T (p.Gln554His) | |
| 13 | g.23354974T>C | CA6911880 | SACS | c.1638A>G (p.Gln546=) n.1776A>G c.1629A>G (p.Gln543=) n.3995A>G c.-613A>G (n.-613A>G) c.510A>G (p.Gln170=) c.1336A>G c.1197A>G (p.Gln399=) c.1662A>G (p.Gln554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23354974T>G | CA387547438 | SACS | c.1638A>C (p.Gln546His) n.1776A>C c.1629A>C (p.Gln543His) n.3995A>C c.-613A>C (n.-613A>C) c.510A>C (p.Gln170His) c.1336A>C c.1197A>C (p.Gln399His) c.1662A>C (p.Gln554His) | |
| 13 | g.23354974T= | CA2078658084 | SACS | c.1638A= (p.Gln546=) n.1776A= c.1629A= (p.Gln543=) n.3995A= c.-613A= (n.-613A=) c.510A= (p.Gln170=) c.1336A= c.1197A= (p.Gln399=) c.1662A= (p.Gln554=) | |
| 13 | g.23354975T>A | CA387547441 | SACS | c.1637A>T (p.Gln546Leu) n.1775A>T c.1628A>T (p.Gln543Leu) n.3994A>T c.-614A>T (n.-614A>T) c.509A>T (p.Gln170Leu) c.1335A>T c.1196A>T (p.Gln399Leu) c.1661A>T (p.Gln554Leu) | |
| 13 | g.23354975T>C | CA387547445 | SACS | c.1637A>G (p.Gln546Arg) n.1775A>G c.1628A>G (p.Gln543Arg) n.3994A>G c.-614A>G (n.-614A>G) c.509A>G (p.Gln170Arg) c.1335A>G c.1196A>G (p.Gln399Arg) c.1661A>G (p.Gln554Arg) | |
| 13 | g.23354975T>G | CA387547443 | SACS | c.1637A>C (p.Gln546Pro) n.1775A>C c.1628A>C (p.Gln543Pro) n.3994A>C c.-614A>C (n.-614A>C) c.509A>C (p.Gln170Pro) c.1335A>C c.1196A>C (p.Gln399Pro) c.1661A>C (p.Gln554Pro) | |
| 13 | g.23354978_23354983del | CA2622331277 | SACS | c.1632_1637del (p.His544_Trp545del) n.1770_1775del c.1623_1628del (p.His541_Trp542del) n.3989_3994del c.-619_-614del (n.-619_-614del) c.504_509del (p.His168_Trp169del) c.1330_1335del c.1191_1196del (p.His397_Trp398del) c.1656_1661del (p.His552_Trp553del) | gnomAD v4 |
| 13 | g.23354976G>A | CA387547449 | SACS | c.1636C>T (p.Gln546Ter) n.1774C>T c.1627C>T (p.Gln543Ter) n.3993C>T c.-615C>T (n.-615C>T) c.508C>T (p.Gln170Ter) c.1334C>T c.1195C>T (p.Gln399Ter) c.1660C>T (p.Gln554Ter) | ClinVar gnomAD v4 |
| 13 | g.23354976G>C | CA387547450 | SACS | c.1636C>G (p.Gln546Glu) n.1774C>G c.1627C>G (p.Gln543Glu) n.3993C>G c.-615C>G (n.-615C>G) c.508C>G (p.Gln170Glu) c.1334C>G c.1195C>G (p.Gln399Glu) c.1660C>G (p.Gln554Glu) | |
| 13 | g.23354976G>T | CA387547452 | SACS | c.1636C>A (p.Gln546Lys) n.1774C>A c.1627C>A (p.Gln543Lys) n.3993C>A c.-615C>A (n.-615C>A) c.508C>A (p.Gln170Lys) c.1334C>A c.1195C>A (p.Gln399Lys) c.1660C>A (p.Gln554Lys) | |
| 13 | g.23354977C>A | CA387547455 | SACS | c.1635G>T (p.Trp545Cys) n.1773G>T c.1626G>T (p.Trp542Cys) n.3992G>T c.-616G>T (n.-616G>T) c.507G>T (p.Trp169Cys) c.1333G>T c.1194G>T (p.Trp398Cys) c.1659G>T (p.Trp553Cys) | |
| 13 | g.23354977C>G | CA387547457 | SACS | c.1635G>C (p.Trp545Cys) n.1773G>C c.1626G>C (p.Trp542Cys) n.3992G>C c.-616G>C (n.-616G>C) c.507G>C (p.Trp169Cys) c.1333G>C c.1194G>C (p.Trp398Cys) c.1659G>C (p.Trp553Cys) | |
| 13 | g.23354977C>T | CA387547459 | SACS | c.1635G>A (p.Trp545Ter) n.1773G>A c.1626G>A (p.Trp542Ter) n.3992G>A c.-616G>A (n.-616G>A) c.507G>A (p.Trp169Ter) c.1333G>A c.1194G>A (p.Trp398Ter) c.1659G>A (p.Trp553Ter) | |
| 13 | g.23354978C>A | CA387547461 | SACS | c.1634G>T (p.Trp545Leu) n.1772G>T c.1625G>T (p.Trp542Leu) n.3991G>T c.-617G>T (n.-617G>T) c.506G>T (p.Trp169Leu) c.1332G>T c.1193G>T (p.Trp398Leu) c.1658G>T (p.Trp553Leu) | dbSNP |
| 13 | g.23354978C= | CA2078658087 | SACS | c.1634G= (p.Trp545=) n.1772G= c.1625G= (p.Trp542=) n.3991G= c.-617G= (n.-617G=) c.506G= (p.Trp169=) c.1332G= c.1193G= (p.Trp398=) c.1658G= (p.Trp553=) | |
| 13 | g.23354978C>G | CA387547463 | SACS | c.1634G>C (p.Trp545Ser) n.1772G>C c.1625G>C (p.Trp542Ser) n.3991G>C c.-617G>C (n.-617G>C) c.506G>C (p.Trp169Ser) c.1332G>C c.1193G>C (p.Trp398Ser) c.1658G>C (p.Trp553Ser) | |
| 13 | g.23354978C>T | CA387547465 | SACS | c.1634G>A (p.Trp545Ter) n.1772G>A c.1625G>A (p.Trp542Ter) n.3991G>A c.-617G>A (n.-617G>A) c.506G>A (p.Trp169Ter) c.1332G>A c.1193G>A (p.Trp398Ter) c.1658G>A (p.Trp553Ter) | |
| 13 | g.23354979A>C | CA387547469 | SACS | c.1633T>G (p.Trp545Gly) n.1771T>G c.1624T>G (p.Trp542Gly) n.3990T>G c.-618T>G (n.-618T>G) c.505T>G (p.Trp169Gly) c.1331T>G c.1192T>G (p.Trp398Gly) c.1657T>G (p.Trp553Gly) | |
| 13 | g.23354979A>G | CA387547470 | SACS | c.1633T>C (p.Trp545Arg) n.1771T>C c.1624T>C (p.Trp542Arg) n.3990T>C c.-618T>C (n.-618T>C) c.505T>C (p.Trp169Arg) c.1331T>C c.1192T>C (p.Trp398Arg) c.1657T>C (p.Trp553Arg) | |
| 13 | g.23354979A>T | CA387547471 | SACS | c.1633T>A (p.Trp545Arg) n.1771T>A c.1624T>A (p.Trp542Arg) n.3990T>A c.-618T>A (n.-618T>A) c.505T>A (p.Trp169Arg) c.1331T>A c.1192T>A (p.Trp398Arg) c.1657T>A (p.Trp553Arg) | |
| 13 | g.23354980G>A | CA483164047 | SACS | c.1632C>T (p.His544=) n.1770C>T c.1623C>T (p.His541=) n.3989C>T c.-619C>T (n.-619C>T) c.504C>T (p.His168=) c.1330C>T c.1191C>T (p.His397=) c.1656C>T (p.His552=) | |
| 13 | g.23354980G>C | CA387547475 | SACS | c.1632C>G (p.His544Gln) n.1770C>G c.1623C>G (p.His541Gln) n.3989C>G c.-619C>G (n.-619C>G) c.504C>G (p.His168Gln) c.1330C>G c.1191C>G (p.His397Gln) c.1656C>G (p.His552Gln) | |
| 13 | g.23354980G>T | CA387547473 | SACS | c.1632C>A (p.His544Gln) n.1770C>A c.1623C>A (p.His541Gln) n.3989C>A c.-619C>A (n.-619C>A) c.504C>A (p.His168Gln) c.1330C>A c.1191C>A (p.His397Gln) c.1656C>A (p.His552Gln) | |
| 13 | g.23354981T>A | CA387547477 | SACS | c.1631A>T (p.His544Leu) n.1769A>T c.1622A>T (p.His541Leu) n.3988A>T c.-620A>T (n.-620A>T) c.503A>T (p.His168Leu) c.1329A>T c.1190A>T (p.His397Leu) c.1655A>T (p.His552Leu) | |
| 13 | g.23354981T>C | CA6911881 | SACS | c.1631A>G (p.His544Arg) n.1769A>G c.1622A>G (p.His541Arg) n.3988A>G c.-620A>G (n.-620A>G) c.503A>G (p.His168Arg) c.1329A>G c.1190A>G (p.His397Arg) c.1655A>G (p.His552Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23354981T>G | CA387547479 | SACS | c.1631A>C (p.His544Pro) n.1769A>C c.1622A>C (p.His541Pro) n.3988A>C c.-620A>C (n.-620A>C) c.503A>C (p.His168Pro) c.1329A>C c.1190A>C (p.His397Pro) c.1655A>C (p.His552Pro) | |
| 13 | g.23354981T= | CA2078658090 | SACS | c.1631A= (p.His544=) n.1769A= c.1622A= (p.His541=) n.3988A= c.-620A= (n.-620A=) c.503A= (p.His168=) c.1329A= c.1190A= (p.His397=) c.1655A= (p.His552=) | |
| 13 | g.23354982G>A | CA387547482 | SACS | c.1630C>T (p.His544Tyr) n.1768C>T c.1621C>T (p.His541Tyr) n.3987C>T c.-621C>T (n.-621C>T) c.502C>T (p.His168Tyr) c.1328C>T c.1189C>T (p.His397Tyr) c.1654C>T (p.His552Tyr) | |
| 13 | g.23354982G>C | CA387547484 | SACS | c.1630C>G (p.His544Asp) n.1768C>G c.1621C>G (p.His541Asp) n.3987C>G c.-621C>G (n.-621C>G) c.502C>G (p.His168Asp) c.1328C>G c.1189C>G (p.His397Asp) c.1654C>G (p.His552Asp) | |
| 13 | g.23354982G>T | CA387547486 | SACS | c.1630C>A (p.His544Asn) n.1768C>A c.1621C>A (p.His541Asn) n.3987C>A c.-621C>A (n.-621C>A) c.502C>A (p.His168Asn) c.1328C>A c.1189C>A (p.His397Asn) c.1654C>A (p.His552Asn) | |
| 13 | g.23354983C>A | CA483164048 | SACS | c.1629G>T (p.Val543=) n.1767G>T c.1620G>T (p.Val540=) n.3986G>T c.-622G>T (n.-622G>T) c.501G>T (p.Val167=) c.1327G>T c.1188G>T (p.Val396=) c.1653G>T (p.Val551=) | |
| 13 | g.23354983C>G | CA483164049 | SACS | c.1629G>C (p.Val543=) n.1767G>C c.1620G>C (p.Val540=) n.3986G>C c.-622G>C (n.-622G>C) c.501G>C (p.Val167=) c.1327G>C c.1188G>C (p.Val396=) c.1653G>C (p.Val551=) | |
| 13 | g.23354983C>T | CA483164050 | SACS | c.1629G>A (p.Val543=) n.1767G>A c.1620G>A (p.Val540=) n.3986G>A c.-622G>A (n.-622G>A) c.501G>A (p.Val167=) c.1327G>A c.1188G>A (p.Val396=) c.1653G>A (p.Val551=) | |
| 13 | g.23354984A>C | CA387547489 | SACS | c.1628T>G (p.Val543Gly) n.1766T>G c.1619T>G (p.Val540Gly) n.3985T>G c.-623T>G (n.-623T>G) c.500T>G (p.Val167Gly) c.1326T>G c.1187T>G (p.Val396Gly) c.1652T>G (p.Val551Gly) | |
| 13 | g.23354984A>G | CA387547495 | SACS | c.1628T>C (p.Val543Ala) n.1766T>C c.1619T>C (p.Val540Ala) n.3985T>C c.-623T>C (n.-623T>C) c.500T>C (p.Val167Ala) c.1326T>C c.1187T>C (p.Val396Ala) c.1652T>C (p.Val551Ala) | |
| 13 | g.23354984A>T | CA387547497 | SACS | c.1628T>A (p.Val543Glu) n.1766T>A c.1619T>A (p.Val540Glu) n.3985T>A c.-623T>A (n.-623T>A) c.500T>A (p.Val167Glu) c.1326T>A c.1187T>A (p.Val396Glu) c.1652T>A (p.Val551Glu) | |
| 13 | g.23354984_23354985delinsAC | CA2078658092 | SACS | c.1627_1628delinsGT (p.Val543=) n.1765_1766delinsGT c.1618_1619delinsGT (p.Val540=) n.3984_3985delinsGT c.-624_-623delinsGT (n.-624_-623delinsGT) c.499_500delinsGT (p.Val167=) c.1325_1326delinsGT c.1186_1187delinsGT (p.Val396=) c.1651_1652delinsGT (p.Val551=) | |
| 13 | g.23354985C>A | CA387547500 | SACS | c.1627G>T (p.Val543Leu) n.1765G>T c.1618G>T (p.Val540Leu) n.3984G>T c.-624G>T (n.-624G>T) c.499G>T (p.Val167Leu) c.1325G>T c.1186G>T (p.Val396Leu) c.1651G>T (p.Val551Leu) | |
| 13 | g.23354985C= | CA2078658097 | SACS | c.1627G= (p.Val543=) n.1765G= c.1618G= (p.Val540=) n.3984G= c.-624G= (n.-624G=) c.499G= (p.Val167=) c.1325G= c.1186G= (p.Val396=) c.1651G= (p.Val551=) |