Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=
11g.2778015G>TCA006375KCNQ1c.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
11g.2778015_2778016delinsGCCA1948315115KCNQ1c.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
11g.2778016C>ACA472465616KCNQ1c.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
11g.2778016C>GCA472465615KCNQ1c.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
11g.2778016C>TCA472465613KCNQ1c.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
11g.2778017delCA1948315116KCNQ1c.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
11g.2778017C>ACA379139748KCNQ1c.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
11g.2778017C>GCA379139750KCNQ1c.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
11g.2778017C>TCA472465620KCNQ1c.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
11g.2778018T>ACA379139752KCNQ1c.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
11g.2778018T>CCA379139754KCNQ1c.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
11g.2778018T>GCA379139756KCNQ1c.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
11g.2778018T=CA1948315117KCNQ1c.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=
11g.2778019G>ACA472465625KCNQ1c.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
11g.2778019G>CCA472465626KCNQ1c.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
11g.2778019G>TCA472465627KCNQ1c.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
11g.2778020A>CCA379139758KCNQ1c.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
11g.2778020A>GCA379139760KCNQ1c.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
11g.2778020A>TCA379139761KCNQ1c.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
11g.2778021A=CA1948315118KCNQ1c.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=
11g.2778021A>CCA379139764KCNQ1c.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
11g.2778021A>GCA379139765KCNQ1c.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
11g.2778021A>TCA379139767KCNQ1c.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
11g.2778022C>ACA379139769KCNQ1c.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
11g.2778022C=CA1948315119KCNQ1c.1422C= (p.Asn474=)
c.1239C= (p.Asn413=)
c.1779C= (p.Asn593=)
c.1398C= (p.Asn466=)
c.183C= (p.Asn61=)
c.885C= (p.Asn295=)
n.286C=
11g.2778022C>GCA379139771KCNQ1c.1422C>G (p.Asn474Lys)
c.1239C>G (p.Asn413Lys)
c.1779C>G (p.Asn593Lys)
c.1398C>G (p.Asn466Lys)
c.183C>G (p.Asn61Lys)
c.885C>G (p.Asn295Lys)
n.286C>G
 ClinVar dbSNP gnomAD v4
11g.2778022C>TCA472465630KCNQ1c.1422C>T (p.Asn474=)
c.1239C>T (p.Asn413=)
c.1779C>T (p.Asn593=)
c.1398C>T (p.Asn466=)
c.183C>T (p.Asn61=)
c.885C>T (p.Asn295=)
n.286C>T
11g.2778023C>ACA472465634KCNQ1c.1423C>A (p.Arg475=)
c.1240C>A (p.Arg414=)
c.1780C>A (p.Arg594=)
c.1399C>A (p.Arg467=)
c.184C>A (p.Arg62=)
c.886C>A (p.Arg296=)
n.287C>A
 ClinVar dbSNP gnomAD v4
11g.2778023C=CA1948315120KCNQ1c.1423C= (p.Arg475=)
c.1240C= (p.Arg414=)
c.1780C= (p.Arg594=)
c.1399C= (p.Arg467=)
c.184C= (p.Arg62=)
c.886C= (p.Arg296=)
n.287C=
11g.2778023C>GCA379139772KCNQ1c.1423C>G (p.Arg475Gly)
c.1240C>G (p.Arg414Gly)
c.1780C>G (p.Arg594Gly)
c.1399C>G (p.Arg467Gly)
c.184C>G (p.Arg62Gly)
c.886C>G (p.Arg296Gly)
n.287C>G
11g.2778023C>TCA006380KCNQ1c.1423C>T (p.Arg475Ter)
c.1240C>T (p.Arg414Ter)
c.1780C>T (p.Arg594Ter)
c.1399C>T (p.Arg467Ter)
c.184C>T (p.Arg62Ter)
c.886C>T (p.Arg296Ter)
n.287C>T
 ClinVar dbSNP gnomAD v4
11g.2778024G>ACA006388KCNQ1c.1424G>A (p.Arg475Gln)
c.1241G>A (p.Arg414Gln)
c.1781G>A (p.Arg594Gln)
c.1400G>A (p.Arg467Gln)
c.185G>A (p.Arg62Gln)
c.887G>A (p.Arg296Gln)
n.288G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2778024G>CCA006395KCNQ1c.1424G>C (p.Arg475Pro)
c.1241G>C (p.Arg414Pro)
c.1781G>C (p.Arg594Pro)
c.1400G>C (p.Arg467Pro)
c.185G>C (p.Arg62Pro)
c.887G>C (p.Arg296Pro)
n.288G>C
 ClinVar dbSNP gnomAD v4
11g.2778024G=CA1948315121KCNQ1c.1424G= (p.Arg475=)
c.1241G= (p.Arg414=)
c.1781G= (p.Arg594=)
c.1400G= (p.Arg467=)
c.185G= (p.Arg62=)
c.887G= (p.Arg296=)
n.288G=
11g.2778024G>TCA379139775KCNQ1c.1424G>T (p.Arg475Leu)
c.1241G>T (p.Arg414Leu)
c.1781G>T (p.Arg594Leu)
c.1400G>T (p.Arg467Leu)
c.185G>T (p.Arg62Leu)
c.887G>T (p.Arg296Leu)
n.288G>T
 ClinVar
11g.2778025A>CCA472465637KCNQ1c.1425A>C (p.Arg475=)
c.1242A>C (p.Arg414=)
c.1782A>C (p.Arg594=)
c.1401A>C (p.Arg467=)
c.186A>C (p.Arg62=)
c.888A>C (p.Arg296=)
n.289A>C
11g.2778025A>GCA472465639KCNQ1c.1425A>G (p.Arg475=)
c.1242A>G (p.Arg414=)
c.1782A>G (p.Arg594=)
c.1401A>G (p.Arg467=)
c.186A>G (p.Arg62=)
c.888A>G (p.Arg296=)
n.289A>G
11g.2778025A>TCA472465641KCNQ1c.1425A>T (p.Arg475=)
c.1242A>T (p.Arg414=)
c.1782A>T (p.Arg594=)
c.1401A>T (p.Arg467=)
c.186A>T (p.Arg62=)
c.888A>T (p.Arg296=)
n.289A>T
11g.2778025_2778026delinsAGCA1948315122KCNQ1c.1425_1426delinsAG (p.Arg475=)
c.1242_1243delinsAG (p.Arg414=)
c.1782_1783delinsAG (p.Arg594=)
c.1401_1402delinsAG (p.Arg467=)
c.186_187delinsAG (p.Arg62=)
c.888_889delinsAG (p.Arg296=)
n.289_290delinsAG
11g.2778027_2778029delCA2695213090KCNQ1c.1427_1429del (p.Val476del)
c.1244_1246del (p.Val415del)
c.1784_1786del (p.Val595del)
c.1403_1405del (p.Val468del)
c.188_190del (p.Val63del)
c.890_892del (p.Val297del)
n.291_293del
11g.2778026delCA032751KCNQ1c.1426del (p.Val476Ter)
c.1243del (p.Val415Ter)
c.1783del (p.Val595Ter)
c.1402del (p.Val468Ter)
c.187del (p.Val63Ter)
c.889del (p.Val297Ter)
n.290del
 ClinVar dbSNP ExAC gnomAD v2
11g.2778026G>ACA379139779KCNQ1c.1426G>A (p.Val476Ile)
c.1243G>A (p.Val415Ile)
c.1783G>A (p.Val595Ile)
c.1402G>A (p.Val468Ile)
c.187G>A (p.Val63Ile)
c.889G>A (p.Val297Ile)
n.290G>A
 ClinVar gnomAD v4
11g.2778026G>CCA379139780KCNQ1c.1426G>C (p.Val476Leu)
c.1243G>C (p.Val415Leu)
c.1783G>C (p.Val595Leu)
c.1402G>C (p.Val468Leu)
c.187G>C (p.Val63Leu)
c.889G>C (p.Val297Leu)
n.290G>C
11g.2778026G=CA1948315123KCNQ1c.1426G= (p.Val476=)
c.1243G= (p.Val415=)
c.1783G= (p.Val595=)
c.1402G= (p.Val468=)
c.187G= (p.Val63=)
c.889G= (p.Val297=)
n.290G=
11g.2778026G>TCA032779KCNQ1c.1426G>T (p.Val476Leu)
c.1243G>T (p.Val415Leu)
c.1783G>T (p.Val595Leu)
c.1402G>T (p.Val468Leu)
c.187G>T (p.Val63Leu)
c.889G>T (p.Val297Leu)
n.290G>T
 ClinVar dbSNP ExAC gnomAD v2
11g.2778027T>ACA379139781KCNQ1c.1427T>A (p.Val476Glu)
c.1244T>A (p.Val415Glu)
c.1784T>A (p.Val595Glu)
c.1403T>A (p.Val468Glu)
c.188T>A (p.Val63Glu)
c.890T>A (p.Val297Glu)
n.291T>A
11g.2778027T>CCA379139783KCNQ1c.1427T>C (p.Val476Ala)
c.1244T>C (p.Val415Ala)
c.1784T>C (p.Val595Ala)
c.1403T>C (p.Val468Ala)
c.188T>C (p.Val63Ala)
c.890T>C (p.Val297Ala)
n.291T>C

Number of alleles fetched