| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2778009G>A | CA006347 | KCNQ1 | c.1409G>A (p.Gly470Asp) c.1226G>A (p.Gly409Asp) c.1766G>A (p.Gly589Asp) c.1385G>A (p.Gly462Asp) c.170G>A (p.Gly57Asp) c.872G>A (p.Gly291Asp) n.273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2778009G>C | CA379139725 | KCNQ1 | c.1409G>C (p.Gly470Ala) c.1226G>C (p.Gly409Ala) c.1766G>C (p.Gly589Ala) c.1385G>C (p.Gly462Ala) c.170G>C (p.Gly57Ala) c.872G>C (p.Gly291Ala) n.273G>C | |
| 11 | g.2778009G= | CA1948315109 | KCNQ1 | c.1409G= (p.Gly470=) c.1226G= (p.Gly409=) c.1766G= (p.Gly589=) c.1385G= (p.Gly462=) c.170G= (p.Gly57=) c.872G= (p.Gly291=) n.273G= | |
| 11 | g.2778009G>T | CA379139723 | KCNQ1 | c.1409G>T (p.Gly470Val) c.1226G>T (p.Gly409Val) c.1766G>T (p.Gly589Val) c.1385G>T (p.Gly462Val) c.170G>T (p.Gly57Val) c.872G>T (p.Gly291Val) n.273G>T | |
| 11 | g.2778010C>A | CA472465599 | KCNQ1 | c.1410C>A (p.Gly470=) c.1227C>A (p.Gly409=) c.1767C>A (p.Gly589=) c.1386C>A (p.Gly462=) c.171C>A (p.Gly57=) c.873C>A (p.Gly291=) n.274C>A | |
| 11 | g.2778010C= | CA1948315110 | KCNQ1 | c.1410C= (p.Gly470=) c.1227C= (p.Gly409=) c.1767C= (p.Gly589=) c.1386C= (p.Gly462=) c.171C= (p.Gly57=) c.873C= (p.Gly291=) n.274C= | |
| 11 | g.2778010C>G | CA472465600 | KCNQ1 | c.1410C>G (p.Gly470=) c.1227C>G (p.Gly409=) c.1767C>G (p.Gly589=) c.1386C>G (p.Gly462=) c.171C>G (p.Gly57=) c.873C>G (p.Gly291=) n.274C>G | |
| 11 | g.2778010C>T | CA032726 | KCNQ1 | c.1410C>T (p.Gly470=) c.1227C>T (p.Gly409=) c.1767C>T (p.Gly589=) c.1386C>T (p.Gly462=) c.171C>T (p.Gly57=) c.873C>T (p.Gly291=) n.274C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2778011G>A | CA006354 | KCNQ1 | c.1411G>A (p.Ala471Thr) c.1228G>A (p.Ala410Thr) c.1768G>A (p.Ala590Thr) c.1387G>A (p.Ala463Thr) c.172G>A (p.Ala58Thr) c.874G>A (p.Ala292Thr) n.275G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2778011G>C | CA379139729 | KCNQ1 | c.1411G>C (p.Ala471Pro) c.1228G>C (p.Ala410Pro) c.1768G>C (p.Ala590Pro) c.1387G>C (p.Ala463Pro) c.172G>C (p.Ala58Pro) c.874G>C (p.Ala292Pro) n.275G>C | ClinVar dbSNP |
| 11 | g.2778011G= | CA1948315111 | KCNQ1 | c.1411G= (p.Ala471=) c.1228G= (p.Ala410=) c.1768G= (p.Ala590=) c.1387G= (p.Ala463=) c.172G= (p.Ala58=) c.874G= (p.Ala292=) n.275G= | |
| 11 | g.2778011G>T | CA379139731 | KCNQ1 | c.1411G>T (p.Ala471Ser) c.1228G>T (p.Ala410Ser) c.1768G>T (p.Ala590Ser) c.1387G>T (p.Ala463Ser) c.172G>T (p.Ala58Ser) c.874G>T (p.Ala292Ser) n.275G>T | gnomAD v4 |
| 11 | g.2778012C>A | CA379139734 | KCNQ1 | c.1412C>A (p.Ala471Asp) c.1229C>A (p.Ala410Asp) c.1769C>A (p.Ala590Asp) c.1388C>A (p.Ala463Asp) c.173C>A (p.Ala58Asp) c.875C>A (p.Ala292Asp) n.276C>A | |
| 11 | g.2778012C>G | CA379139735 | KCNQ1 | c.1412C>G (p.Ala471Gly) c.1229C>G (p.Ala410Gly) c.1769C>G (p.Ala590Gly) c.1388C>G (p.Ala463Gly) c.173C>G (p.Ala58Gly) c.875C>G (p.Ala292Gly) n.276C>G | |
| 11 | g.2778012C>T | CA379139737 | KCNQ1 | c.1412C>T (p.Ala471Val) c.1229C>T (p.Ala410Val) c.1769C>T (p.Ala590Val) c.1388C>T (p.Ala463Val) c.173C>T (p.Ala58Val) c.875C>T (p.Ala292Val) n.276C>T | gnomAD v4 |
| 11 | g.2778013C>A | CA472465601 | KCNQ1 | c.1413C>A (p.Ala471=) c.1230C>A (p.Ala410=) c.1770C>A (p.Ala590=) c.1389C>A (p.Ala463=) c.174C>A (p.Ala58=) c.876C>A (p.Ala292=) n.277C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2778013C= | CA1948315112 | KCNQ1 | c.1413C= (p.Ala471=) c.1230C= (p.Ala410=) c.1770C= (p.Ala590=) c.1389C= (p.Ala463=) c.174C= (p.Ala58=) c.876C= (p.Ala292=) n.277C= | |
| 11 | g.2778013C>G | CA472465605 | KCNQ1 | c.1413C>G (p.Ala471=) c.1230C>G (p.Ala410=) c.1770C>G (p.Ala590=) c.1389C>G (p.Ala463=) c.174C>G (p.Ala58=) c.876C>G (p.Ala292=) n.277C>G | |
| 11 | g.2778013C>T | CA472465608 | KCNQ1 | c.1413C>T (p.Ala471=) c.1230C>T (p.Ala410=) c.1770C>T (p.Ala590=) c.1389C>T (p.Ala463=) c.174C>T (p.Ala58=) c.876C>T (p.Ala292=) n.277C>T | |
| 11 | g.2778014C>A | CA379139740 | KCNQ1 | c.1414C>A (p.Arg472Ser) c.1231C>A (p.Arg411Ser) c.1771C>A (p.Arg591Ser) c.1390C>A (p.Arg464Ser) c.175C>A (p.Arg59Ser) c.877C>A (p.Arg293Ser) n.278C>A | |
| 11 | g.2778014C= | CA1948315113 | KCNQ1 | c.1414C= (p.Arg472=) c.1231C= (p.Arg411=) c.1771C= (p.Arg591=) c.1390C= (p.Arg464=) c.175C= (p.Arg59=) c.877C= (p.Arg293=) n.278C= | |
| 11 | g.2778014C>G | CA379139741 | KCNQ1 | c.1414C>G (p.Arg472Gly) c.1231C>G (p.Arg411Gly) c.1771C>G (p.Arg591Gly) c.1390C>G (p.Arg464Gly) c.175C>G (p.Arg59Gly) c.877C>G (p.Arg293Gly) n.278C>G | |
| 11 | g.2778014C>T | CA006360 | KCNQ1 | c.1414C>T (p.Arg472Cys) c.1231C>T (p.Arg411Cys) c.1771C>T (p.Arg591Cys) c.1390C>T (p.Arg464Cys) c.175C>T (p.Arg59Cys) c.877C>T (p.Arg293Cys) n.278C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2778015G>A | CA006369 | KCNQ1 | c.1415G>A (p.Arg472His) c.1232G>A (p.Arg411His) c.1772G>A (p.Arg591His) c.1391G>A (p.Arg464His) c.176G>A (p.Arg59His) c.878G>A (p.Arg293His) n.279G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.2778015G>C | CA379139745 | KCNQ1 | c.1415G>C (p.Arg472Pro) c.1232G>C (p.Arg411Pro) c.1772G>C (p.Arg591Pro) c.1391G>C (p.Arg464Pro) c.176G>C (p.Arg59Pro) c.878G>C (p.Arg293Pro) n.279G>C | ClinVar dbSNP |
| 11 | g.2778015G= | CA1948315114 | KCNQ1 | c.1415G= (p.Arg472=) c.1232G= (p.Arg411=) c.1772G= (p.Arg591=) c.1391G= (p.Arg464=) c.176G= (p.Arg59=) c.878G= (p.Arg293=) n.279G= | |
| 11 | g.2778015G>T | CA006375 | KCNQ1 | c.1415G>T (p.Arg472Leu) c.1232G>T (p.Arg411Leu) c.1772G>T (p.Arg591Leu) c.1391G>T (p.Arg464Leu) c.176G>T (p.Arg59Leu) c.878G>T (p.Arg293Leu) n.279G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.2778015_2778016delinsGC | CA1948315115 | KCNQ1 | c.1415_1416delinsGC (p.Arg472=) c.1232_1233delinsGC (p.Arg411=) c.1772_1773delinsGC (p.Arg591=) c.1391_1392delinsGC (p.Arg464=) c.176_177delinsGC (p.Arg59=) c.878_879delinsGC (p.Arg293=) n.279_280delinsGC | |
| 11 | g.2778016C>A | CA472465616 | KCNQ1 | c.1416C>A (p.Arg472=) c.1233C>A (p.Arg411=) c.1773C>A (p.Arg591=) c.1392C>A (p.Arg464=) c.177C>A (p.Arg59=) c.879C>A (p.Arg293=) n.280C>A | |
| 11 | g.2778016C>G | CA472465615 | KCNQ1 | c.1416C>G (p.Arg472=) c.1233C>G (p.Arg411=) c.1773C>G (p.Arg591=) c.1392C>G (p.Arg464=) c.177C>G (p.Arg59=) c.879C>G (p.Arg293=) n.280C>G | |
| 11 | g.2778016C>T | CA472465613 | KCNQ1 | c.1416C>T (p.Arg472=) c.1233C>T (p.Arg411=) c.1773C>T (p.Arg591=) c.1392C>T (p.Arg464=) c.177C>T (p.Arg59=) c.879C>T (p.Arg293=) n.280C>T | |
| 11 | g.2778017del | CA1948315116 | KCNQ1 | c.1417del (p.Leu473Ter) c.1234del (p.Leu412Ter) c.1774del (p.Leu592Ter) c.1393del (p.Leu465Ter) c.178del (p.Leu60Ter) c.880del (p.Leu294Ter) n.281del | dbSNP |
| 11 | g.2778017C>A | CA379139748 | KCNQ1 | c.1417C>A (p.Leu473Met) c.1234C>A (p.Leu412Met) c.1774C>A (p.Leu592Met) c.1393C>A (p.Leu465Met) c.178C>A (p.Leu60Met) c.880C>A (p.Leu294Met) n.281C>A | |
| 11 | g.2778017C>G | CA379139750 | KCNQ1 | c.1417C>G (p.Leu473Val) c.1234C>G (p.Leu412Val) c.1774C>G (p.Leu592Val) c.1393C>G (p.Leu465Val) c.178C>G (p.Leu60Val) c.880C>G (p.Leu294Val) n.281C>G | |
| 11 | g.2778017C>T | CA472465620 | KCNQ1 | c.1417C>T (p.Leu473=) c.1234C>T (p.Leu412=) c.1774C>T (p.Leu592=) c.1393C>T (p.Leu465=) c.178C>T (p.Leu60=) c.880C>T (p.Leu294=) n.281C>T | |
| 11 | g.2778018T>A | CA379139752 | KCNQ1 | c.1418T>A (p.Leu473Gln) c.1235T>A (p.Leu412Gln) c.1775T>A (p.Leu592Gln) c.1394T>A (p.Leu465Gln) c.179T>A (p.Leu60Gln) c.881T>A (p.Leu294Gln) n.282T>A | |
| 11 | g.2778018T>C | CA379139754 | KCNQ1 | c.1418T>C (p.Leu473Pro) c.1235T>C (p.Leu412Pro) c.1775T>C (p.Leu592Pro) c.1394T>C (p.Leu465Pro) c.179T>C (p.Leu60Pro) c.881T>C (p.Leu294Pro) n.282T>C | dbSNP |
| 11 | g.2778018T>G | CA379139756 | KCNQ1 | c.1418T>G (p.Leu473Arg) c.1235T>G (p.Leu412Arg) c.1775T>G (p.Leu592Arg) c.1394T>G (p.Leu465Arg) c.179T>G (p.Leu60Arg) c.881T>G (p.Leu294Arg) n.282T>G | |
| 11 | g.2778018T= | CA1948315117 | KCNQ1 | c.1418T= (p.Leu473=) c.1235T= (p.Leu412=) c.1775T= (p.Leu592=) c.1394T= (p.Leu465=) c.179T= (p.Leu60=) c.881T= (p.Leu294=) n.282T= | |
| 11 | g.2778019G>A | CA472465625 | KCNQ1 | c.1419G>A (p.Leu473=) c.1236G>A (p.Leu412=) c.1776G>A (p.Leu592=) c.1395G>A (p.Leu465=) c.180G>A (p.Leu60=) c.882G>A (p.Leu294=) n.283G>A | ClinVar dbSNP |
| 11 | g.2778019G>C | CA472465626 | KCNQ1 | c.1419G>C (p.Leu473=) c.1236G>C (p.Leu412=) c.1776G>C (p.Leu592=) c.1395G>C (p.Leu465=) c.180G>C (p.Leu60=) c.882G>C (p.Leu294=) n.283G>C | |
| 11 | g.2778019G>T | CA472465627 | KCNQ1 | c.1419G>T (p.Leu473=) c.1236G>T (p.Leu412=) c.1776G>T (p.Leu592=) c.1395G>T (p.Leu465=) c.180G>T (p.Leu60=) c.882G>T (p.Leu294=) n.283G>T | gnomAD v4 |
| 11 | g.2778020A>C | CA379139758 | KCNQ1 | c.1420A>C (p.Asn474His) c.1237A>C (p.Asn413His) c.1777A>C (p.Asn593His) c.1396A>C (p.Asn466His) c.181A>C (p.Asn61His) c.883A>C (p.Asn295His) n.284A>C | |
| 11 | g.2778020A>G | CA379139760 | KCNQ1 | c.1420A>G (p.Asn474Asp) c.1237A>G (p.Asn413Asp) c.1777A>G (p.Asn593Asp) c.1396A>G (p.Asn466Asp) c.181A>G (p.Asn61Asp) c.883A>G (p.Asn295Asp) n.284A>G | |
| 11 | g.2778020A>T | CA379139761 | KCNQ1 | c.1420A>T (p.Asn474Tyr) c.1237A>T (p.Asn413Tyr) c.1777A>T (p.Asn593Tyr) c.1396A>T (p.Asn466Tyr) c.181A>T (p.Asn61Tyr) c.883A>T (p.Asn295Tyr) n.284A>T | |
| 11 | g.2778021A= | CA1948315118 | KCNQ1 | c.1421A= (p.Asn474=) c.1238A= (p.Asn413=) c.1778A= (p.Asn593=) c.1397A= (p.Asn466=) c.182A= (p.Asn61=) c.884A= (p.Asn295=) n.285A= | |
| 11 | g.2778021A>C | CA379139764 | KCNQ1 | c.1421A>C (p.Asn474Thr) c.1238A>C (p.Asn413Thr) c.1778A>C (p.Asn593Thr) c.1397A>C (p.Asn466Thr) c.182A>C (p.Asn61Thr) c.884A>C (p.Asn295Thr) n.285A>C | |
| 11 | g.2778021A>G | CA379139765 | KCNQ1 | c.1421A>G (p.Asn474Ser) c.1238A>G (p.Asn413Ser) c.1778A>G (p.Asn593Ser) c.1397A>G (p.Asn466Ser) c.182A>G (p.Asn61Ser) c.884A>G (p.Asn295Ser) n.285A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2778021A>T | CA379139767 | KCNQ1 | c.1421A>T (p.Asn474Ile) c.1238A>T (p.Asn413Ile) c.1778A>T (p.Asn593Ile) c.1397A>T (p.Asn466Ile) c.182A>T (p.Asn61Ile) c.884A>T (p.Asn295Ile) n.285A>T | |
| 11 | g.2778022C>A | CA379139769 | KCNQ1 | c.1422C>A (p.Asn474Lys) c.1239C>A (p.Asn413Lys) c.1779C>A (p.Asn593Lys) c.1398C>A (p.Asn466Lys) c.183C>A (p.Asn61Lys) c.885C>A (p.Asn295Lys) n.286C>A |