Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2778003C>A | CA379139698 | KCNQ1 | c.1403C>A (p.Thr468Lys) c.1220C>A (p.Thr407Lys) c.1760C>A (p.Thr587Lys) c.1379C>A (p.Thr460Lys) c.164C>A (p.Thr55Lys) c.866C>A (p.Thr289Lys) n.267C>A | |
11 | g.2778003C= | CA1948315103 | KCNQ1 | c.1403C= (p.Thr468=) c.1220C= (p.Thr407=) c.1760C= (p.Thr587=) c.1379C= (p.Thr460=) c.164C= (p.Thr55=) c.866C= (p.Thr289=) n.267C= | |
11 | g.2778003C>G | CA379139700 | KCNQ1 | c.1403C>G (p.Thr468Arg) c.1220C>G (p.Thr407Arg) c.1760C>G (p.Thr587Arg) c.1379C>G (p.Thr460Arg) c.164C>G (p.Thr55Arg) c.866C>G (p.Thr289Arg) n.267C>G | ClinVar dbSNP |
11 | g.2778003C>T | CA006328 | KCNQ1 | c.1403C>T (p.Thr468Met) c.1220C>T (p.Thr407Met) c.1760C>T (p.Thr587Met) c.1379C>T (p.Thr460Met) c.164C>T (p.Thr55Met) c.866C>T (p.Thr289Met) n.267C>T | ClinVar dbSNP gnomAD v4 |
11 | g.2778004G>A | CA032664 | KCNQ1 | c.1404G>A (p.Thr468=) c.1221G>A (p.Thr407=) c.1761G>A (p.Thr587=) c.1380G>A (p.Thr460=) c.165G>A (p.Thr55=) c.867G>A (p.Thr289=) n.268G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778004G>C | CA472465587 | KCNQ1 | c.1404G>C (p.Thr468=) c.1221G>C (p.Thr407=) c.1761G>C (p.Thr587=) c.1380G>C (p.Thr460=) c.165G>C (p.Thr55=) c.867G>C (p.Thr289=) n.268G>C | |
11 | g.2778004G= | CA1948315104 | KCNQ1 | c.1404G= (p.Thr468=) c.1221G= (p.Thr407=) c.1761G= (p.Thr587=) c.1380G= (p.Thr460=) c.165G= (p.Thr55=) c.867G= (p.Thr289=) n.268G= | |
11 | g.2778004G>T | CA472465589 | KCNQ1 | c.1404G>T (p.Thr468=) c.1221G>T (p.Thr407=) c.1761G>T (p.Thr587=) c.1380G>T (p.Thr460=) c.165G>T (p.Thr55=) c.867G>T (p.Thr289=) n.268G>T | |
11 | g.2778005A= | CA1948315105 | KCNQ1 | c.1405A= (p.Ile469=) c.1222A= (p.Ile408=) c.1762A= (p.Ile588=) c.1381A= (p.Ile461=) c.166A= (p.Ile56=) c.868A= (p.Ile290=) n.269A= | |
11 | g.2778005A>C | CA379139704 | KCNQ1 | c.1405A>C (p.Ile469Leu) c.1222A>C (p.Ile408Leu) c.1762A>C (p.Ile588Leu) c.1381A>C (p.Ile461Leu) c.166A>C (p.Ile56Leu) c.868A>C (p.Ile290Leu) n.269A>C | |
11 | g.2778005A>G | CA379139706 | KCNQ1 | c.1405A>G (p.Ile469Val) c.1222A>G (p.Ile408Val) c.1762A>G (p.Ile588Val) c.1381A>G (p.Ile461Val) c.166A>G (p.Ile56Val) c.868A>G (p.Ile290Val) n.269A>G | ClinVar dbSNP |
11 | g.2778005A>T | CA006336 | KCNQ1 | c.1405A>T (p.Ile469Phe) c.1222A>T (p.Ile408Phe) c.1762A>T (p.Ile588Phe) c.1381A>T (p.Ile461Phe) c.166A>T (p.Ile56Phe) c.868A>T (p.Ile290Phe) n.269A>T | ClinVar dbSNP |
11 | g.2778006T>A | CA379139709 | KCNQ1 | c.1406T>A (p.Ile469Asn) c.1223T>A (p.Ile408Asn) c.1763T>A (p.Ile588Asn) c.1382T>A (p.Ile461Asn) c.167T>A (p.Ile56Asn) c.869T>A (p.Ile290Asn) n.270T>A | |
11 | g.2778006T>C | CA006341 | KCNQ1 | c.1406T>C (p.Ile469Thr) c.1223T>C (p.Ile408Thr) c.1763T>C (p.Ile588Thr) c.1382T>C (p.Ile461Thr) c.167T>C (p.Ile56Thr) c.869T>C (p.Ile290Thr) n.270T>C | ClinVar dbSNP |
11 | g.2778006T>G | CA379139712 | KCNQ1 | c.1406T>G (p.Ile469Ser) c.1223T>G (p.Ile408Ser) c.1763T>G (p.Ile588Ser) c.1382T>G (p.Ile461Ser) c.167T>G (p.Ile56Ser) c.869T>G (p.Ile290Ser) n.270T>G | |
11 | g.2778006T= | CA1948315106 | KCNQ1 | c.1406T= (p.Ile469=) c.1223T= (p.Ile408=) c.1763T= (p.Ile588=) c.1382T= (p.Ile461=) c.167T= (p.Ile56=) c.869T= (p.Ile290=) n.270T= | |
11 | g.2778007C>A | CA472465594 | KCNQ1 | c.1407C>A (p.Ile469=) c.1224C>A (p.Ile408=) c.1764C>A (p.Ile588=) c.1383C>A (p.Ile461=) c.168C>A (p.Ile56=) c.870C>A (p.Ile290=) n.271C>A | |
11 | g.2778007C= | CA1948315107 | KCNQ1 | c.1407C= (p.Ile469=) c.1224C= (p.Ile408=) c.1764C= (p.Ile588=) c.1383C= (p.Ile461=) c.168C= (p.Ile56=) c.870C= (p.Ile290=) n.271C= | |
11 | g.2778007C>G | CA379139714 | KCNQ1 | c.1407C>G (p.Ile469Met) c.1224C>G (p.Ile408Met) c.1764C>G (p.Ile588Met) c.1383C>G (p.Ile461Met) c.168C>G (p.Ile56Met) c.870C>G (p.Ile290Met) n.271C>G | |
11 | g.2778007C>T | CA216321962 | KCNQ1 | c.1407C>T (p.Ile469=) c.1224C>T (p.Ile408=) c.1764C>T (p.Ile588=) c.1383C>T (p.Ile461=) c.168C>T (p.Ile56=) c.870C>T (p.Ile290=) n.271C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2778008G>A | CA032686 | KCNQ1 | c.1408G>A (p.Gly470Ser) c.1225G>A (p.Gly409Ser) c.1765G>A (p.Gly589Ser) c.1384G>A (p.Gly462Ser) c.169G>A (p.Gly57Ser) c.871G>A (p.Gly291Ser) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2778008G>C | CA379139720 | KCNQ1 | c.1408G>C (p.Gly470Arg) c.1225G>C (p.Gly409Arg) c.1765G>C (p.Gly589Arg) c.1384G>C (p.Gly462Arg) c.169G>C (p.Gly57Arg) c.871G>C (p.Gly291Arg) n.272G>C | |
11 | g.2778008G= | CA1948315108 | KCNQ1 | c.1408G= (p.Gly470=) c.1225G= (p.Gly409=) c.1765G= (p.Gly589=) c.1384G= (p.Gly462=) c.169G= (p.Gly57=) c.871G= (p.Gly291=) n.272G= | |
11 | g.2778008G>T | CA379139717 | KCNQ1 | c.1408G>T (p.Gly470Cys) c.1225G>T (p.Gly409Cys) c.1765G>T (p.Gly589Cys) c.1384G>T (p.Gly462Cys) c.169G>T (p.Gly57Cys) c.871G>T (p.Gly291Cys) n.272G>T | COSMIC |
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= |