| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2847777T>A | CA379140195 | KCNQ1,KCNQ1-AS1 | c.1448T>A (p.Leu483Gln) c.1805T>A (p.Leu602Gln) c.1424T>A (p.Leu475Gln) c.209T>A (p.Leu70Gln) n.312T>A n.778-7335A>T | |
| 11 | g.2847777T>C | CA006458 | KCNQ1,KCNQ1-AS1 | c.1448T>C (p.Leu483Pro) c.1805T>C (p.Leu602Pro) c.1424T>C (p.Leu475Pro) c.209T>C (p.Leu70Pro) n.312T>C n.778-7335A>G | ClinVar dbSNP |
| 11 | g.2847777T>G | CA379140196 | KCNQ1,KCNQ1-AS1 | c.1448T>G (p.Leu483Arg) c.1805T>G (p.Leu602Arg) c.1424T>G (p.Leu475Arg) c.209T>G (p.Leu70Arg) n.312T>G n.778-7335A>C | |
| 11 | g.2847777T= | CA1948349588 | KCNQ1,KCNQ1-AS1 | c.1448T= (p.Leu483=) c.1805T= (p.Leu602=) c.1424T= (p.Leu475=) c.209T= (p.Leu70=) n.312T= n.778-7335A= | |
| 11 | g.2847778G>A | CA16606230 | KCNQ1,KCNQ1-AS1 | c.1449G>A (p.Leu483=) c.1806G>A (p.Leu602=) c.1425G>A (p.Leu475=) c.210G>A (p.Leu70=) n.313G>A n.778-7336C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2847778G>C | CA472466009 | KCNQ1,KCNQ1-AS1 | c.1449G>C (p.Leu483=) c.1806G>C (p.Leu602=) c.1425G>C (p.Leu475=) c.210G>C (p.Leu70=) n.313G>C n.778-7336C>G | |
| 11 | g.2847778G= | CA1948349589 | KCNQ1,KCNQ1-AS1 | c.1449G= (p.Leu483=) c.1806G= (p.Leu602=) c.1425G= (p.Leu475=) c.210G= (p.Leu70=) n.313G= n.778-7336C= | |
| 11 | g.2847778G>T | CA472466011 | KCNQ1,KCNQ1-AS1 | c.1449G>T (p.Leu483=) c.1806G>T (p.Leu602=) c.1425G>T (p.Leu475=) c.210G>T (p.Leu70=) n.313G>T n.778-7336C>A | gnomAD v4 |
| 11 | g.2847779del | CA2695213092 | KCNQ1,KCNQ1-AS1 | c.1450del (p.Asp484ThrfsTer?) c.1807del (p.Asp603ThrfsTer?) c.1426del (p.Asp476ThrfsTer?) c.211del (p.Asp71ThrfsTer?) n.314del n.778-7336del | |
| 11 | g.2847779G>A | CA379140199 | KCNQ1,KCNQ1-AS1 | c.1450G>A (p.Asp484Asn) c.1807G>A (p.Asp603Asn) c.1426G>A (p.Asp476Asn) c.211G>A (p.Asp71Asn) n.314G>A n.778-7337C>T | gnomAD v4 |
| 11 | g.2847779G>C | CA379140198 | KCNQ1,KCNQ1-AS1 | c.1450G>C (p.Asp484His) c.1807G>C (p.Asp603His) c.1426G>C (p.Asp476His) c.211G>C (p.Asp71His) n.314G>C n.778-7337C>G | gnomAD v4 |
| 11 | g.2847779G>T | CA379140197 | KCNQ1,KCNQ1-AS1 | c.1450G>T (p.Asp484Tyr) c.1807G>T (p.Asp603Tyr) c.1426G>T (p.Asp476Tyr) c.211G>T (p.Asp71Tyr) n.314G>T n.778-7337C>A | gnomAD v4 |
| 11 | g.2847780A= | CA1948349590 | KCNQ1,KCNQ1-AS1 | c.1451A= (p.Asp484=) c.1808A= (p.Asp603=) c.1427A= (p.Asp476=) c.212A= (p.Asp71=) n.315A= n.778-7338T= | |
| 11 | g.2847780A>C | CA379140200 | KCNQ1,KCNQ1-AS1 | c.1451A>C (p.Asp484Ala) c.1808A>C (p.Asp603Ala) c.1427A>C (p.Asp476Ala) c.212A>C (p.Asp71Ala) n.315A>C n.778-7338T>G | |
| 11 | g.2847780A>G | CA379140202 | KCNQ1,KCNQ1-AS1 | c.1451A>G (p.Asp484Gly) c.1808A>G (p.Asp603Gly) c.1427A>G (p.Asp476Gly) c.212A>G (p.Asp71Gly) n.315A>G n.778-7338T>C | gnomAD v4 |
| 11 | g.2847780A>T | CA379140201 | KCNQ1,KCNQ1-AS1 | c.1451A>T (p.Asp484Val) c.1808A>T (p.Asp603Val) c.1427A>T (p.Asp476Val) c.212A>T (p.Asp71Val) n.315A>T n.778-7338T>A | |
| 11 | g.2847781C>A | CA216345022 | KCNQ1,KCNQ1-AS1 | c.1452C>A (p.Asp484Glu) c.1809C>A (p.Asp603Glu) c.1428C>A (p.Asp476Glu) c.213C>A (p.Asp71Glu) n.316C>A n.778-7339G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.2847781C= | CA1948349591 | KCNQ1,KCNQ1-AS1 | c.1452C= (p.Asp484=) c.1809C= (p.Asp603=) c.1428C= (p.Asp476=) c.213C= (p.Asp71=) n.316C= n.778-7339G= | |
| 11 | g.2847781C>G | CA379140203 | KCNQ1,KCNQ1-AS1 | c.1452C>G (p.Asp484Glu) c.1809C>G (p.Asp603Glu) c.1428C>G (p.Asp476Glu) c.213C>G (p.Asp71Glu) n.316C>G n.778-7339G>C | |
| 11 | g.2847781C>T | CA472466032 | KCNQ1,KCNQ1-AS1 | c.1452C>T (p.Asp484=) c.1809C>T (p.Asp603=) c.1428C>T (p.Asp476=) c.213C>T (p.Asp71=) n.316C>T n.778-7339G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2847782dup | CA1139661766 | KCNQ1,KCNQ1-AS1 | c.1453dup (p.Gln485ProfsTer?) c.1810dup (p.Gln604ProfsTer?) c.1429dup (p.Gln477ProfsTer?) c.214dup (p.Gln72ProfsTer?) n.317dup n.778-7339dup | ClinVar dbSNP |
| 11 | g.2847782C>A | CA379140204 | KCNQ1,KCNQ1-AS1 | c.1453C>A (p.Gln485Lys) c.1810C>A (p.Gln604Lys) c.1429C>A (p.Gln477Lys) c.214C>A (p.Gln72Lys) n.317C>A n.778-7340G>T | gnomAD v4 |
| 11 | g.2847782C= | CA1948349592 | KCNQ1,KCNQ1-AS1 | c.1453C= (p.Gln485=) c.1810C= (p.Gln604=) c.1429C= (p.Gln477=) c.214C= (p.Gln72=) n.317C= n.778-7340G= | |
| 11 | g.2847782C>G | CA379140205 | KCNQ1,KCNQ1-AS1 | c.1453C>G (p.Gln485Glu) c.1810C>G (p.Gln604Glu) c.1429C>G (p.Gln477Glu) c.214C>G (p.Gln72Glu) n.317C>G n.778-7340G>C | dbSNP gnomAD v4 |
| 11 | g.2847782C>T | CA379140206 | KCNQ1,KCNQ1-AS1 | c.1453C>T (p.Gln485Ter) c.1810C>T (p.Gln604Ter) c.1429C>T (p.Gln477Ter) c.214C>T (p.Gln72Ter) n.317C>T n.778-7340G>A | gnomAD v4 |
| 11 | g.2847783A= | CA1948349593 | KCNQ1,KCNQ1-AS1 | c.1454A= (p.Gln485=) c.1811A= (p.Gln604=) c.1430A= (p.Gln477=) c.215A= (p.Gln72=) n.318A= n.778-7341T= | |
| 11 | g.2847783A>C | CA379140207 | KCNQ1,KCNQ1-AS1 | c.1454A>C (p.Gln485Pro) c.1811A>C (p.Gln604Pro) c.1430A>C (p.Gln477Pro) c.215A>C (p.Gln72Pro) n.318A>C n.778-7341T>G | |
| 11 | g.2847783A>G | CA379140208 | KCNQ1,KCNQ1-AS1 | c.1454A>G (p.Gln485Arg) c.1811A>G (p.Gln604Arg) c.1430A>G (p.Gln477Arg) c.215A>G (p.Gln72Arg) n.318A>G n.778-7341T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2847783A>T | CA006465 | KCNQ1,KCNQ1-AS1 | c.1454A>T (p.Gln485Leu) c.1811A>T (p.Gln604Leu) c.1430A>T (p.Gln477Leu) c.215A>T (p.Gln72Leu) n.318A>T n.778-7341T>A | ClinVar dbSNP |
| 11 | g.2847784G>A | CA472466052 | KCNQ1,KCNQ1-AS1 | c.1455G>A (p.Gln485=) c.1812G>A (p.Gln604=) c.1431G>A (p.Gln477=) c.216G>A (p.Gln72=) n.319G>A n.778-7342C>T | |
| 11 | g.2847784G>C | CA379140209 | KCNQ1,KCNQ1-AS1 | c.1455G>C (p.Gln485His) c.1812G>C (p.Gln604His) c.1431G>C (p.Gln477His) c.216G>C (p.Gln72His) n.319G>C n.778-7342C>G | |
| 11 | g.2847784G>T | CA379140210 | KCNQ1,KCNQ1-AS1 | c.1455G>T (p.Gln485His) c.1812G>T (p.Gln604His) c.1431G>T (p.Gln477His) c.216G>T (p.Gln72His) n.319G>T n.778-7342C>A | gnomAD v4 |
| 11 | g.2847785A>C | CA472466057 | KCNQ1,KCNQ1-AS1 | c.1456A>C (p.Arg486=) c.1813A>C (p.Arg605=) c.1432A>C (p.Arg478=) c.217A>C (p.Arg73=) n.320A>C n.778-7343T>G | |
| 11 | g.2847785A>G | CA379140211 | KCNQ1,KCNQ1-AS1 | c.1456A>G (p.Arg486Gly) c.1813A>G (p.Arg605Gly) c.1432A>G (p.Arg478Gly) c.217A>G (p.Arg73Gly) n.320A>G n.778-7343T>C | |
| 11 | g.2847785A>T | CA379140212 | KCNQ1,KCNQ1-AS1 | c.1456A>T (p.Arg486Trp) c.1813A>T (p.Arg605Trp) c.1432A>T (p.Arg478Trp) c.217A>T (p.Arg73Trp) n.320A>T n.778-7343T>A | gnomAD v4 |
| 11 | g.2847786G>A | CA379140215 | KCNQ1,KCNQ1-AS1 | c.1457G>A (p.Arg486Lys) c.1814G>A (p.Arg605Lys) c.1433G>A (p.Arg478Lys) c.218G>A (p.Arg73Lys) n.321G>A n.778-7344C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2847786G>C | CA379140214 | KCNQ1,KCNQ1-AS1 | c.1457G>C (p.Arg486Thr) c.1814G>C (p.Arg605Thr) c.1433G>C (p.Arg478Thr) c.218G>C (p.Arg73Thr) n.321G>C n.778-7344C>G | |
| 11 | g.2847786G>T | CA379140213 | KCNQ1,KCNQ1-AS1 | c.1457G>T (p.Arg486Met) c.1814G>T (p.Arg605Met) c.1433G>T (p.Arg478Met) c.218G>T (p.Arg73Met) n.321G>T n.778-7344C>A | gnomAD v4 |
| 11 | g.2847787G>A | CA472466075 | KCNQ1,KCNQ1-AS1 | c.1458G>A (p.Arg486=) c.1815G>A (p.Arg605=) c.1434G>A (p.Arg478=) c.219G>A (p.Arg73=) n.322G>A n.778-7345C>T | gnomAD v4 |
| 11 | g.2847787G>C | CA379140216 | KCNQ1,KCNQ1-AS1 | c.1458G>C (p.Arg486Ser) c.1815G>C (p.Arg605Ser) c.1434G>C (p.Arg478Ser) c.219G>C (p.Arg73Ser) n.322G>C n.778-7345C>G | |
| 11 | g.2847787G>T | CA379140217 | KCNQ1,KCNQ1-AS1 | c.1458G>T (p.Arg486Ser) c.1815G>T (p.Arg605Ser) c.1434G>T (p.Arg478Ser) c.219G>T (p.Arg73Ser) n.322G>T n.778-7345C>A | gnomAD v4 |
| 11 | g.2847788C>A | CA379140218 | KCNQ1,KCNQ1-AS1 | c.1459C>A (p.Leu487Met) c.1816C>A (p.Leu606Met) c.1435C>A (p.Leu479Met) c.220C>A (p.Leu74Met) n.323C>A n.778-7346G>T | gnomAD v4 |
| 11 | g.2847788C= | CA1948349594 | KCNQ1,KCNQ1-AS1 | c.1459C= (p.Leu487=) c.1816C= (p.Leu606=) c.1435C= (p.Leu479=) c.220C= (p.Leu74=) n.323C= n.778-7346G= | |
| 11 | g.2847788C>G | CA379140219 | KCNQ1,KCNQ1-AS1 | c.1459C>G (p.Leu487Val) c.1816C>G (p.Leu606Val) c.1435C>G (p.Leu479Val) c.220C>G (p.Leu74Val) n.323C>G n.778-7346G>C | |
| 11 | g.2847788C>T | CA472466079 | KCNQ1,KCNQ1-AS1 | c.1459C>T (p.Leu487=) c.1816C>T (p.Leu606=) c.1435C>T (p.Leu479=) c.220C>T (p.Leu74=) n.323C>T n.778-7346G>A | dbSNP gnomAD v2 |
| 11 | g.2847789T>A | CA379140220 | KCNQ1,KCNQ1-AS1 | c.1460T>A (p.Leu487Gln) c.1817T>A (p.Leu606Gln) c.1436T>A (p.Leu479Gln) c.221T>A (p.Leu74Gln) n.324T>A n.778-7347A>T | ClinVar gnomAD v4 |
| 11 | g.2847789T>C | CA379140221 | KCNQ1,KCNQ1-AS1 | c.1460T>C (p.Leu487Pro) c.1817T>C (p.Leu606Pro) c.1436T>C (p.Leu479Pro) c.221T>C (p.Leu74Pro) n.324T>C n.778-7347A>G | |
| 11 | g.2847789T>G | CA379140222 | KCNQ1,KCNQ1-AS1 | c.1460T>G (p.Leu487Arg) c.1817T>G (p.Leu606Arg) c.1436T>G (p.Leu479Arg) c.221T>G (p.Leu74Arg) n.324T>G n.778-7347A>C | |
| 11 | g.2847790G>A | CA472466097 | KCNQ1,KCNQ1-AS1 | c.1461G>A (p.Leu487=) c.1818G>A (p.Leu606=) c.1437G>A (p.Leu479=) c.222G>A (p.Leu74=) n.325G>A n.778-7348C>T | dbSNP gnomAD v4 |
| 11 | g.2847790G>C | CA472466089 | KCNQ1,KCNQ1-AS1 | c.1461G>C (p.Leu487=) c.1818G>C (p.Leu606=) c.1437G>C (p.Leu479=) c.222G>C (p.Leu74=) n.325G>C n.778-7348C>G |