Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2662010_2662028dupCA1139661785KCNQ1,KCNQ1OT1c.1086_1104dup (p.Asp369AsnfsTer34)
c.903_921dup (p.Asp308AsnfsTer34)
c.1443_1461dup (p.Asp488AsnfsTer34)
c.1062_1080dup (p.Asp361AsnfsTer34)
c.549_567dup (p.Asp190AsnfsTer34)
n.37974_37992dup
 ClinVar dbSNP
11g.2662027A=CA1948247789KCNQ1,KCNQ1OT1c.1103A= (p.Glu368=)
c.920A= (p.Glu307=)
c.1460A= (p.Glu487=)
c.1079A= (p.Glu360=)
c.566A= (p.Glu189=)
n.37972T=
11g.2662027A>CCA379479621KCNQ1,KCNQ1OT1c.1103A>C (p.Glu368Ala)
c.920A>C (p.Glu307Ala)
c.1460A>C (p.Glu487Ala)
c.1079A>C (p.Glu360Ala)
c.566A>C (p.Glu189Ala)
n.37972T>G
11g.2662027A>GCA379479624KCNQ1,KCNQ1OT1c.1103A>G (p.Glu368Gly)
c.920A>G (p.Glu307Gly)
c.1460A>G (p.Glu487Gly)
c.1079A>G (p.Glu360Gly)
c.566A>G (p.Glu189Gly)
n.37972T>C
11g.2662027A>TCA379479625KCNQ1,KCNQ1OT1c.1103A>T (p.Glu368Val)
c.920A>T (p.Glu307Val)
c.1460A>T (p.Glu487Val)
c.1079A>T (p.Glu360Val)
c.566A>T (p.Glu189Val)
n.37972T>A
11g.2662027_2662032dupCA2612007045KCNQ1,KCNQ1OT1c.1103_1108dup (p.Asp369_Leu370insGlnAsp)
c.920_925dup (p.Asp308_Leu309insGlnAsp)
c.1460_1465dup (p.Asp488_Leu489insGlnAsp)
c.1079_1084dup (p.Asp361_Leu362insGlnAsp)
c.566_571dup (p.Asp190_Leu191insGlnAsp)
n.37967_37972dup
 gnomAD v4
11g.2662028G>ACA472236297KCNQ1,KCNQ1OT1c.1104G>A (p.Glu368=)
c.921G>A (p.Glu307=)
c.1461G>A (p.Glu487=)
c.1080G>A (p.Glu360=)
c.567G>A (p.Glu189=)
n.37971C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2662028G>CCA379479626KCNQ1,KCNQ1OT1c.1104G>C (p.Glu368Asp)
c.921G>C (p.Glu307Asp)
c.1461G>C (p.Glu487Asp)
c.1080G>C (p.Glu360Asp)
c.567G>C (p.Glu189Asp)
n.37971C>G
11g.2662028G=CA1948247793KCNQ1,KCNQ1OT1c.1104G= (p.Glu368=)
c.921G= (p.Glu307=)
c.1461G= (p.Glu487=)
c.1080G= (p.Glu360=)
c.567G= (p.Glu189=)
n.37971C=
11g.2662028G>TCA379479627KCNQ1,KCNQ1OT1c.1104G>T (p.Glu368Asp)
c.921G>T (p.Glu307Asp)
c.1461G>T (p.Glu487Asp)
c.1080G>T (p.Glu360Asp)
c.567G>T (p.Glu189Asp)
n.37971C>A
11g.2662029delCA658761332KCNQ1,KCNQ1OT1c.1105del (p.Asp369ThrfsTer10)
c.922del (p.Asp308ThrfsTer10)
c.1462del (p.Asp488ThrfsTer10)
c.1081del (p.Asp361ThrfsTer10)
c.568del (p.Asp190ThrfsTer10)
n.37971del
11g.2662037_2662042dupCA597443115KCNQ1,KCNQ1OT1c.1113_1118dup (p.Leu372_Glu373insAspLeu)
c.930_935dup (p.Leu311_Glu312insAspLeu)
c.1470_1475dup (p.Leu491_Glu492insAspLeu)
c.1089_1094dup (p.Leu364_Glu365insAspLeu)
c.576_581dup (p.Leu193_Glu194insAspLeu)
n.37966_37971dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2662029G>ACA379479630KCNQ1,KCNQ1OT1c.1105G>A (p.Asp369Asn)
c.922G>A (p.Asp308Asn)
c.1462G>A (p.Asp488Asn)
c.1081G>A (p.Asp361Asn)
c.568G>A (p.Asp190Asn)
n.37970C>T
 ClinVar dbSNP gnomAD v4
11g.2662029G>CCA379479632KCNQ1,KCNQ1OT1c.1105G>C (p.Asp369His)
c.922G>C (p.Asp308His)
c.1462G>C (p.Asp488His)
c.1081G>C (p.Asp361His)
c.568G>C (p.Asp190His)
n.37970C>G
 ClinVar dbSNP
11g.2662029G>TCA379479628KCNQ1,KCNQ1OT1c.1105G>T (p.Asp369Tyr)
c.922G>T (p.Asp308Tyr)
c.1462G>T (p.Asp488Tyr)
c.1081G>T (p.Asp361Tyr)
c.568G>T (p.Asp190Tyr)
n.37970C>A
11g.2662030A>CCA379479637KCNQ1,KCNQ1OT1c.1106A>C (p.Asp369Ala)
c.923A>C (p.Asp308Ala)
c.1463A>C (p.Asp488Ala)
c.1082A>C (p.Asp361Ala)
c.569A>C (p.Asp190Ala)
n.37969T>G
11g.2662030A>GCA379479634KCNQ1,KCNQ1OT1c.1106A>G (p.Asp369Gly)
c.923A>G (p.Asp308Gly)
c.1463A>G (p.Asp488Gly)
c.1082A>G (p.Asp361Gly)
c.569A>G (p.Asp190Gly)
n.37969T>C
11g.2662030A>TCA379479639KCNQ1,KCNQ1OT1c.1106A>T (p.Asp369Val)
c.923A>T (p.Asp308Val)
c.1463A>T (p.Asp488Val)
c.1082A>T (p.Asp361Val)
c.569A>T (p.Asp190Val)
n.37969T>A
11g.2662031C>ACA005784KCNQ1,KCNQ1OT1c.1107C>A (p.Asp369Glu)
c.924C>A (p.Asp308Glu)
c.1464C>A (p.Asp488Glu)
c.1083C>A (p.Asp361Glu)
c.570C>A (p.Asp190Glu)
n.37968G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2662031C=CA1948247800KCNQ1,KCNQ1OT1c.1107C= (p.Asp369=)
c.924C= (p.Asp308=)
c.1464C= (p.Asp488=)
c.1083C= (p.Asp361=)
c.570C= (p.Asp190=)
n.37968G=
11g.2662031C>GCA379479642KCNQ1,KCNQ1OT1c.1107C>G (p.Asp369Glu)
c.924C>G (p.Asp308Glu)
c.1464C>G (p.Asp488Glu)
c.1083C>G (p.Asp361Glu)
c.570C>G (p.Asp190Glu)
n.37968G>C
11g.2662031C>TCA472236298KCNQ1,KCNQ1OT1c.1107C>T (p.Asp369=)
c.924C>T (p.Asp308=)
c.1464C>T (p.Asp488=)
c.1083C>T (p.Asp361=)
c.570C>T (p.Asp190=)
n.37968G>A
 gnomAD v4
11g.2662032C>ACA379479644KCNQ1,KCNQ1OT1c.1108C>A (p.Leu370Met)
c.925C>A (p.Leu309Met)
c.1465C>A (p.Leu489Met)
c.1084C>A (p.Leu362Met)
c.571C>A (p.Leu191Met)
n.37967G>T
11g.2662032C>GCA379479647KCNQ1,KCNQ1OT1c.1108C>G (p.Leu370Val)
c.925C>G (p.Leu309Val)
c.1465C>G (p.Leu489Val)
c.1084C>G (p.Leu362Val)
c.571C>G (p.Leu191Val)
n.37967G>C
11g.2662032C>TCA472236299KCNQ1,KCNQ1OT1c.1108C>T (p.Leu370=)
c.925C>T (p.Leu309=)
c.1465C>T (p.Leu489=)
c.1084C>T (p.Leu362=)
c.571C>T (p.Leu191=)
n.37967G>A
 gnomAD v4
11g.2662033T>ACA379479650KCNQ1,KCNQ1OT1c.1109T>A (p.Leu370Gln)
c.926T>A (p.Leu309Gln)
c.1466T>A (p.Leu489Gln)
c.1085T>A (p.Leu362Gln)
c.572T>A (p.Leu191Gln)
n.37966A>T
11g.2662033T>CCA379479652KCNQ1,KCNQ1OT1c.1109T>C (p.Leu370Pro)
c.926T>C (p.Leu309Pro)
c.1466T>C (p.Leu489Pro)
c.1085T>C (p.Leu362Pro)
c.572T>C (p.Leu191Pro)
n.37966A>G
 gnomAD v4
11g.2662033T>GCA379479655KCNQ1,KCNQ1OT1c.1109T>G (p.Leu370Arg)
c.926T>G (p.Leu309Arg)
c.1466T>G (p.Leu489Arg)
c.1085T>G (p.Leu362Arg)
c.572T>G (p.Leu191Arg)
n.37966A>C
 dbSNP
11g.2662033T=CA1948247804KCNQ1,KCNQ1OT1c.1109T= (p.Leu370=)
c.926T= (p.Leu309=)
c.1466T= (p.Leu489=)
c.1085T= (p.Leu362=)
c.572T= (p.Leu191=)
n.37966A=
11g.2662034G>ACA472236302KCNQ1,KCNQ1OT1c.1110G>A (p.Leu370=)
c.927G>A (p.Leu309=)
c.1467G>A (p.Leu489=)
c.1086G>A (p.Leu362=)
c.573G>A (p.Leu191=)
n.37965C>T
11g.2662034G>CCA472236300KCNQ1,KCNQ1OT1c.1110G>C (p.Leu370=)
c.927G>C (p.Leu309=)
c.1467G>C (p.Leu489=)
c.1086G>C (p.Leu362=)
c.573G>C (p.Leu191=)
n.37965C>G
 ClinVar dbSNP
11g.2662034G=CA1948247809KCNQ1,KCNQ1OT1c.1110G= (p.Leu370=)
c.927G= (p.Leu309=)
c.1467G= (p.Leu489=)
c.1086G= (p.Leu362=)
c.573G= (p.Leu191=)
n.37965C=
11g.2662034G>TCA472236301KCNQ1,KCNQ1OT1c.1110G>T (p.Leu370=)
c.927G>T (p.Leu309=)
c.1467G>T (p.Leu489=)
c.1086G>T (p.Leu362=)
c.573G>T (p.Leu191=)
n.37965C>A
11g.2662035G>ACA379479658KCNQ1,KCNQ1OT1c.1111G>A (p.Asp371Asn)
c.928G>A (p.Asp310Asn)
c.1468G>A (p.Asp490Asn)
c.1087G>A (p.Asp363Asn)
c.574G>A (p.Asp192Asn)
n.37964C>T
11g.2662035G>CCA379479660KCNQ1,KCNQ1OT1c.1111G>C (p.Asp371His)
c.928G>C (p.Asp310His)
c.1468G>C (p.Asp490His)
c.1087G>C (p.Asp363His)
c.574G>C (p.Asp192His)
n.37964C>G
11g.2662035G>TCA379479663KCNQ1,KCNQ1OT1c.1111G>T (p.Asp371Tyr)
c.928G>T (p.Asp310Tyr)
c.1468G>T (p.Asp490Tyr)
c.1087G>T (p.Asp363Tyr)
c.574G>T (p.Asp192Tyr)
n.37964C>A
11g.2662036A=CA1948247818KCNQ1,KCNQ1OT1c.1112A= (p.Asp371=)
c.929A= (p.Asp310=)
c.1469A= (p.Asp490=)
c.1088A= (p.Asp363=)
c.575A= (p.Asp192=)
n.37963T=
11g.2662036A>CCA379479665KCNQ1,KCNQ1OT1c.1112A>C (p.Asp371Ala)
c.929A>C (p.Asp310Ala)
c.1469A>C (p.Asp490Ala)
c.1088A>C (p.Asp363Ala)
c.575A>C (p.Asp192Ala)
n.37963T>G
11g.2662036A>GCA379479666KCNQ1,KCNQ1OT1c.1112A>G (p.Asp371Gly)
c.929A>G (p.Asp310Gly)
c.1469A>G (p.Asp490Gly)
c.1088A>G (p.Asp363Gly)
c.575A>G (p.Asp192Gly)
n.37963T>C
 ClinVar dbSNP gnomAD v4
11g.2662036A>TCA379479668KCNQ1,KCNQ1OT1c.1112A>T (p.Asp371Val)
c.929A>T (p.Asp310Val)
c.1469A>T (p.Asp490Val)
c.1088A>T (p.Asp363Val)
c.575A>T (p.Asp192Val)
n.37963T>A
11g.2662037C>ACA379479678KCNQ1,KCNQ1OT1c.1113C>A (p.Asp371Glu)
c.930C>A (p.Asp310Glu)
c.1470C>A (p.Asp490Glu)
c.1089C>A (p.Asp363Glu)
c.576C>A (p.Asp192Glu)
n.37962G>T
11g.2662037C>GCA379479680KCNQ1,KCNQ1OT1c.1113C>G (p.Asp371Glu)
c.930C>G (p.Asp310Glu)
c.1470C>G (p.Asp490Glu)
c.1089C>G (p.Asp363Glu)
c.576C>G (p.Asp192Glu)
n.37962G>C
11g.2662037C>TCA472236303KCNQ1,KCNQ1OT1c.1113C>T (p.Asp371=)
c.930C>T (p.Asp310=)
c.1470C>T (p.Asp490=)
c.1089C>T (p.Asp363=)
c.576C>T (p.Asp192=)
n.37962G>A
11g.2662038C>ACA379479683KCNQ1,KCNQ1OT1c.1114C>A (p.Leu372Met)
c.931C>A (p.Leu311Met)
c.1471C>A (p.Leu491Met)
c.1090C>A (p.Leu364Met)
c.577C>A (p.Leu193Met)
n.37961G>T
11g.2662038C>GCA379479685KCNQ1,KCNQ1OT1c.1114C>G (p.Leu372Val)
c.931C>G (p.Leu311Val)
c.1471C>G (p.Leu491Val)
c.1090C>G (p.Leu364Val)
c.577C>G (p.Leu193Val)
n.37961G>C
11g.2662038C>TCA472236304KCNQ1,KCNQ1OT1c.1114C>T (p.Leu372=)
c.931C>T (p.Leu311=)
c.1471C>T (p.Leu491=)
c.1090C>T (p.Leu364=)
c.577C>T (p.Leu193=)
n.37961G>A
 gnomAD v4
11g.2662038_2662058delCA645569427KCNQ1,KCNQ1OT1c.1114_1134del (p.Leu372_Leu378del)
c.931_951del (p.Leu311_Leu317del)
c.1471_1491del (p.Leu491_Leu497del)
c.1090_1110del (p.Leu364_Leu370del)
c.577_597del (p.Leu193_Leu199del)
n.37941_37961del
 COSMIC COSMIC
11g.2662039T>ACA379479686KCNQ1,KCNQ1OT1c.1115T>A (p.Leu372Gln)
c.932T>A (p.Leu311Gln)
c.1472T>A (p.Leu491Gln)
c.1091T>A (p.Leu364Gln)
c.578T>A (p.Leu193Gln)
n.37960A>T
11g.2662039T>CCA379479687KCNQ1,KCNQ1OT1c.1115T>C (p.Leu372Pro)
c.932T>C (p.Leu311Pro)
c.1472T>C (p.Leu491Pro)
c.1091T>C (p.Leu364Pro)
c.578T>C (p.Leu193Pro)
n.37960A>G
 gnomAD v4
11g.2662039T>GCA379479688KCNQ1,KCNQ1OT1c.1115T>G (p.Leu372Arg)
c.932T>G (p.Leu311Arg)
c.1472T>G (p.Leu491Arg)
c.1091T>G (p.Leu364Arg)
c.578T>G (p.Leu193Arg)
n.37960A>C

Number of alleles fetched