Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2778003C>ACA379139698KCNQ1c.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
11g.2778003C=CA1948315103KCNQ1c.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=
11g.2778003C>GCA379139700KCNQ1c.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
11g.2778003C>TCA006328KCNQ1c.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
11g.2778004G>ACA032664KCNQ1c.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
11g.2778004G>CCA472465587KCNQ1c.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
11g.2778004G=CA1948315104KCNQ1c.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=
11g.2778004G>TCA472465589KCNQ1c.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
11g.2778005A=CA1948315105KCNQ1c.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=
11g.2778005A>CCA379139704KCNQ1c.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
11g.2778005A>GCA379139706KCNQ1c.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
11g.2778005A>TCA006336KCNQ1c.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
11g.2778006T>ACA379139709KCNQ1c.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
11g.2778006T>CCA006341KCNQ1c.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
11g.2778006T>GCA379139712KCNQ1c.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
11g.2778006T=CA1948315106KCNQ1c.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=
11g.2778007C>ACA472465594KCNQ1c.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
11g.2778007C=CA1948315107KCNQ1c.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=
11g.2778007C>GCA379139714KCNQ1c.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
11g.2778007C>TCA216321962KCNQ1c.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
11g.2778008G>ACA032686KCNQ1c.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
11g.2778008G>CCA379139720KCNQ1c.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
11g.2778008G=CA1948315108KCNQ1c.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=
11g.2778008G>TCA379139717KCNQ1c.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
11g.2778009G>ACA006347KCNQ1c.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
11g.2778009G>CCA379139725KCNQ1c.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
11g.2778009G=CA1948315109KCNQ1c.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=
11g.2778009G>TCA379139723KCNQ1c.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
11g.2778010C>ACA472465599KCNQ1c.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
11g.2778010C=CA1948315110KCNQ1c.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=
11g.2778010C>GCA472465600KCNQ1c.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
11g.2778010C>TCA032726KCNQ1c.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
11g.2778011G>ACA006354KCNQ1c.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
11g.2778011G>CCA379139729KCNQ1c.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
11g.2778011G=CA1948315111KCNQ1c.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=
11g.2778011G>TCA379139731KCNQ1c.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
11g.2778012C>ACA379139734KCNQ1c.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
11g.2778012C>GCA379139735KCNQ1c.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
11g.2778012C>TCA379139737KCNQ1c.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
11g.2778013C>ACA472465601KCNQ1c.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
11g.2778013C=CA1948315112KCNQ1c.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=
11g.2778013C>GCA472465605KCNQ1c.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
11g.2778013C>TCA472465608KCNQ1c.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
11g.2778014C>ACA379139740KCNQ1c.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
11g.2778014C=CA1948315113KCNQ1c.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=
11g.2778014C>GCA379139741KCNQ1c.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
11g.2778014C>TCA006360KCNQ1c.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
11g.2778015G>ACA006369KCNQ1c.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
11g.2778015G>CCA379139745KCNQ1c.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
11g.2778015G=CA1948315114KCNQ1c.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=

Number of alleles fetched