Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2661944C>ACA472236170KCNQ1,KCNQ1OT1c.1037-17C>A (n.1037-17C>A)
c.854-17C>A (n.854-17C>A)
c.1394-17C>A (n.1394-17C>A)
c.1013-17C>A (n.1013-17C>A)
c.500-17C>A (n.500-17C>A)
n.38055G>T
 gnomAD v4
11g.2661944C>GCA472236168KCNQ1,KCNQ1OT1c.1037-17C>G (n.1037-17C>G)
c.854-17C>G (n.854-17C>G)
c.1394-17C>G (n.1394-17C>G)
c.1013-17C>G (n.1013-17C>G)
c.500-17C>G (n.500-17C>G)
n.38055G>C
11g.2661944C>TCA472236169KCNQ1,KCNQ1OT1c.1037-17C>T (n.1037-17C>T)
c.854-17C>T (n.854-17C>T)
c.1394-17C>T (n.1394-17C>T)
c.1013-17C>T (n.1013-17C>T)
c.500-17C>T (n.500-17C>T)
n.38055G>A
 gnomAD v4
11g.2661944_2661946delinsCCACA1948247474KCNQ1,KCNQ1OT1c.1037-17_1037-15delinsCCA (n.1037-17_1037-15delinsCCA)
c.854-17_854-15delinsCCA (n.854-17_854-15delinsCCA)
c.1394-17_1394-15delinsCCA (n.1394-17_1394-15delinsCCA)
c.1013-17_1013-15delinsCCA (n.1013-17_1013-15delinsCCA)
c.500-17_500-15delinsCCA (n.500-17_500-15delinsCCA)
n.38053_38055delinsTGG
11g.2661945C>ACA472236172KCNQ1,KCNQ1OT1c.1037-16C>A (n.1037-16C>A)
c.854-16C>A (n.854-16C>A)
c.1394-16C>A (n.1394-16C>A)
c.1013-16C>A (n.1013-16C>A)
c.500-16C>A (n.500-16C>A)
n.38054G>T
11g.2661945C>GCA472236176KCNQ1,KCNQ1OT1c.1037-16C>G (n.1037-16C>G)
c.854-16C>G (n.854-16C>G)
c.1394-16C>G (n.1394-16C>G)
c.1013-16C>G (n.1013-16C>G)
c.500-16C>G (n.500-16C>G)
n.38054G>C
 dbSNP
11g.2661945C>TCA472236174KCNQ1,KCNQ1OT1c.1037-16C>T (n.1037-16C>T)
c.854-16C>T (n.854-16C>T)
c.1394-16C>T (n.1394-16C>T)
c.1013-16C>T (n.1013-16C>T)
c.500-16C>T (n.500-16C>T)
n.38054G>A
11g.2661948_2661949delCA029484KCNQ1,KCNQ1OT1c.1037-13_1037-12del (n.1037-13_1037-12del)
c.854-13_854-12del (n.854-13_854-12del)
c.1394-13_1394-12del (n.1394-13_1394-12del)
c.1013-13_1013-12del (n.1013-13_1013-12del)
c.500-13_500-12del (n.500-13_500-12del)
n.38053_38054del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661946A=CA1948247482KCNQ1,KCNQ1OT1c.1037-15A= (n.1037-15A=)
c.854-15A= (n.854-15A=)
c.1394-15A= (n.1394-15A=)
c.1013-15A= (n.1013-15A=)
c.500-15A= (n.500-15A=)
n.38053T=
11g.2661946A>CCA472236177KCNQ1,KCNQ1OT1c.1037-15A>C (n.1037-15A>C)
c.854-15A>C (n.854-15A>C)
c.1394-15A>C (n.1394-15A>C)
c.1013-15A>C (n.1013-15A>C)
c.500-15A>C (n.500-15A>C)
n.38053T>G
11g.2661946A>GCA029477KCNQ1,KCNQ1OT1c.1037-15A>G (n.1037-15A>G)
c.854-15A>G (n.854-15A>G)
c.1394-15A>G (n.1394-15A>G)
c.1013-15A>G (n.1013-15A>G)
c.500-15A>G (n.500-15A>G)
n.38053T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2661946A>TCA472236178KCNQ1,KCNQ1OT1c.1037-15A>T (n.1037-15A>T)
c.854-15A>T (n.854-15A>T)
c.1394-15A>T (n.1394-15A>T)
c.1013-15A>T (n.1013-15A>T)
c.500-15A>T (n.500-15A>T)
n.38053T>A
11g.2661947C>ACA472236179KCNQ1,KCNQ1OT1c.1037-14C>A (n.1037-14C>A)
c.854-14C>A (n.854-14C>A)
c.1394-14C>A (n.1394-14C>A)
c.1013-14C>A (n.1013-14C>A)
c.500-14C>A (n.500-14C>A)
n.38052G>T
11g.2661947C=CA1948247489KCNQ1,KCNQ1OT1c.1037-14C= (n.1037-14C=)
c.854-14C= (n.854-14C=)
c.1394-14C= (n.1394-14C=)
c.1013-14C= (n.1013-14C=)
c.500-14C= (n.500-14C=)
n.38052G=
11g.2661947C>GCA472236181KCNQ1,KCNQ1OT1c.1037-14C>G (n.1037-14C>G)
c.854-14C>G (n.854-14C>G)
c.1394-14C>G (n.1394-14C>G)
c.1013-14C>G (n.1013-14C>G)
c.500-14C>G (n.500-14C>G)
n.38052G>C
11g.2661947C>TCA005722KCNQ1,KCNQ1OT1c.1037-14C>T (n.1037-14C>T)
c.854-14C>T (n.854-14C>T)
c.1394-14C>T (n.1394-14C>T)
c.1013-14C>T (n.1013-14C>T)
c.500-14C>T (n.500-14C>T)
n.38052G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661948A=CA1948247495KCNQ1,KCNQ1OT1c.1037-13A= (n.1037-13A=)
c.854-13A= (n.854-13A=)
c.1394-13A= (n.1394-13A=)
c.1013-13A= (n.1013-13A=)
c.500-13A= (n.500-13A=)
n.38051T=
11g.2661948A>CCA029418KCNQ1,KCNQ1OT1c.1037-13A>C (n.1037-13A>C)
c.854-13A>C (n.854-13A>C)
c.1394-13A>C (n.1394-13A>C)
c.1013-13A>C (n.1013-13A>C)
c.500-13A>C (n.500-13A>C)
n.38051T>G
 dbSNP ExAC gnomAD v4
11g.2661948A>GCA029430KCNQ1,KCNQ1OT1c.1037-13A>G (n.1037-13A>G)
c.854-13A>G (n.854-13A>G)
c.1394-13A>G (n.1394-13A>G)
c.1013-13A>G (n.1013-13A>G)
c.500-13A>G (n.500-13A>G)
n.38051T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2661948A>TCA472236182KCNQ1,KCNQ1OT1c.1037-13A>T (n.1037-13A>T)
c.854-13A>T (n.854-13A>T)
c.1394-13A>T (n.1394-13A>T)
c.1013-13A>T (n.1013-13A>T)
c.500-13A>T (n.500-13A>T)
n.38051T>A
11g.2661949C>ACA472236185KCNQ1,KCNQ1OT1c.1037-12C>A (n.1037-12C>A)
c.854-12C>A (n.854-12C>A)
c.1394-12C>A (n.1394-12C>A)
c.1013-12C>A (n.1013-12C>A)
c.500-12C>A (n.500-12C>A)
n.38050G>T
11g.2661949C>GCA472236183KCNQ1,KCNQ1OT1c.1037-12C>G (n.1037-12C>G)
c.854-12C>G (n.854-12C>G)
c.1394-12C>G (n.1394-12C>G)
c.1013-12C>G (n.1013-12C>G)
c.500-12C>G (n.500-12C>G)
n.38050G>C
 gnomAD v4
11g.2661949C>TCA472236184KCNQ1,KCNQ1OT1c.1037-12C>T (n.1037-12C>T)
c.854-12C>T (n.854-12C>T)
c.1394-12C>T (n.1394-12C>T)
c.1013-12C>T (n.1013-12C>T)
c.500-12C>T (n.500-12C>T)
n.38050G>A
 ClinVar
11g.2661950T>ACA472236186KCNQ1,KCNQ1OT1c.1037-11T>A (n.1037-11T>A)
c.854-11T>A (n.854-11T>A)
c.1394-11T>A (n.1394-11T>A)
c.1013-11T>A (n.1013-11T>A)
c.500-11T>A (n.500-11T>A)
n.38049A>T
11g.2661950T>CCA472236188KCNQ1,KCNQ1OT1c.1037-11T>C (n.1037-11T>C)
c.854-11T>C (n.854-11T>C)
c.1394-11T>C (n.1394-11T>C)
c.1013-11T>C (n.1013-11T>C)
c.500-11T>C (n.500-11T>C)
n.38049A>G
 dbSNP gnomAD v4
11g.2661950T>GCA472236187KCNQ1,KCNQ1OT1c.1037-11T>G (n.1037-11T>G)
c.854-11T>G (n.854-11T>G)
c.1394-11T>G (n.1394-11T>G)
c.1013-11T>G (n.1013-11T>G)
c.500-11T>G (n.500-11T>G)
n.38049A>C
11g.2661950T=CA1948247497KCNQ1,KCNQ1OT1c.1037-11T= (n.1037-11T=)
c.854-11T= (n.854-11T=)
c.1394-11T= (n.1394-11T=)
c.1013-11T= (n.1013-11T=)
c.500-11T= (n.500-11T=)
n.38049A=
11g.2661951T>ACA472236190KCNQ1,KCNQ1OT1c.1037-10T>A (n.1037-10T>A)
c.854-10T>A (n.854-10T>A)
c.1394-10T>A (n.1394-10T>A)
c.1013-10T>A (n.1013-10T>A)
c.500-10T>A (n.500-10T>A)
n.38048A>T
11g.2661951T>CCA472236191KCNQ1,KCNQ1OT1c.1037-10T>C (n.1037-10T>C)
c.854-10T>C (n.854-10T>C)
c.1394-10T>C (n.1394-10T>C)
c.1013-10T>C (n.1013-10T>C)
c.500-10T>C (n.500-10T>C)
n.38048A>G
11g.2661951T>GCA472236193KCNQ1,KCNQ1OT1c.1037-10T>G (n.1037-10T>G)
c.854-10T>G (n.854-10T>G)
c.1394-10T>G (n.1394-10T>G)
c.1013-10T>G (n.1013-10T>G)
c.500-10T>G (n.500-10T>G)
n.38048A>C
11g.2661952T>ACA472236195KCNQ1,KCNQ1OT1c.1037-9T>A (n.1037-9T>A)
c.854-9T>A (n.854-9T>A)
c.1394-9T>A (n.1394-9T>A)
c.1013-9T>A (n.1013-9T>A)
c.500-9T>A (n.500-9T>A)
n.38047A>T
11g.2661952T>CCA472236196KCNQ1,KCNQ1OT1c.1037-9T>C (n.1037-9T>C)
c.854-9T>C (n.854-9T>C)
c.1394-9T>C (n.1394-9T>C)
c.1013-9T>C (n.1013-9T>C)
c.500-9T>C (n.500-9T>C)
n.38047A>G
 ClinVar gnomAD v4
11g.2661952T>GCA472236197KCNQ1,KCNQ1OT1c.1037-9T>G (n.1037-9T>G)
c.854-9T>G (n.854-9T>G)
c.1394-9T>G (n.1394-9T>G)
c.1013-9T>G (n.1013-9T>G)
c.500-9T>G (n.500-9T>G)
n.38047A>C
11g.2661953C>ACA005740KCNQ1,KCNQ1OT1c.1037-8C>A (n.1037-8C>A)
c.854-8C>A (n.854-8C>A)
c.1394-8C>A (n.1394-8C>A)
c.1013-8C>A (n.1013-8C>A)
c.500-8C>A (n.500-8C>A)
n.38046G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2661953C=CA1948247509KCNQ1,KCNQ1OT1c.1037-8C= (n.1037-8C=)
c.854-8C= (n.854-8C=)
c.1394-8C= (n.1394-8C=)
c.1013-8C= (n.1013-8C=)
c.500-8C= (n.500-8C=)
n.38046G=
11g.2661953C>GCA472236198KCNQ1,KCNQ1OT1c.1037-8C>G (n.1037-8C>G)
c.854-8C>G (n.854-8C>G)
c.1394-8C>G (n.1394-8C>G)
c.1013-8C>G (n.1013-8C>G)
c.500-8C>G (n.500-8C>G)
n.38046G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2661953C>TCA005747KCNQ1,KCNQ1OT1c.1037-8C>T (n.1037-8C>T)
c.854-8C>T (n.854-8C>T)
c.1394-8C>T (n.1394-8C>T)
c.1013-8C>T (n.1013-8C>T)
c.500-8C>T (n.500-8C>T)
n.38046G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661954T>ACA472236199KCNQ1,KCNQ1OT1c.1037-7T>A (n.1037-7T>A)
c.854-7T>A (n.854-7T>A)
c.1394-7T>A (n.1394-7T>A)
c.1013-7T>A (n.1013-7T>A)
c.500-7T>A (n.500-7T>A)
n.38045A>T
11g.2661954T>CCA472236203KCNQ1,KCNQ1OT1c.1037-7T>C (n.1037-7T>C)
c.854-7T>C (n.854-7T>C)
c.1394-7T>C (n.1394-7T>C)
c.1013-7T>C (n.1013-7T>C)
c.500-7T>C (n.500-7T>C)
n.38045A>G
11g.2661954T>GCA472236201KCNQ1,KCNQ1OT1c.1037-7T>G (n.1037-7T>G)
c.854-7T>G (n.854-7T>G)
c.1394-7T>G (n.1394-7T>G)
c.1013-7T>G (n.1013-7T>G)
c.500-7T>G (n.500-7T>G)
n.38045A>C
11g.2661955C>ACA029792KCNQ1,KCNQ1OT1c.1037-6C>A (n.1037-6C>A)
c.854-6C>A (n.854-6C>A)
c.1394-6C>A (n.1394-6C>A)
c.1013-6C>A (n.1013-6C>A)
c.500-6C>A (n.500-6C>A)
n.38044G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661955C=CA1948247517KCNQ1,KCNQ1OT1c.1037-6C= (n.1037-6C=)
c.854-6C= (n.854-6C=)
c.1394-6C= (n.1394-6C=)
c.1013-6C= (n.1013-6C=)
c.500-6C= (n.500-6C=)
n.38044G=
11g.2661955C>GCA472236208KCNQ1,KCNQ1OT1c.1037-6C>G (n.1037-6C>G)
c.854-6C>G (n.854-6C>G)
c.1394-6C>G (n.1394-6C>G)
c.1013-6C>G (n.1013-6C>G)
c.500-6C>G (n.500-6C>G)
n.38044G>C
 gnomAD v4
11g.2661955C>TCA005733KCNQ1,KCNQ1OT1c.1037-6C>T (n.1037-6C>T)
c.854-6C>T (n.854-6C>T)
c.1394-6C>T (n.1394-6C>T)
c.1013-6C>T (n.1013-6C>T)
c.500-6C>T (n.500-6C>T)
n.38044G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661956C>ACA472236209KCNQ1,KCNQ1OT1c.1037-5C>A (n.1037-5C>A)
c.854-5C>A (n.854-5C>A)
c.1394-5C>A (n.1394-5C>A)
c.1013-5C>A (n.1013-5C>A)
c.500-5C>A (n.500-5C>A)
n.38043G>T
11g.2661956C>GCA472236211KCNQ1,KCNQ1OT1c.1037-5C>G (n.1037-5C>G)
c.854-5C>G (n.854-5C>G)
c.1394-5C>G (n.1394-5C>G)
c.1013-5C>G (n.1013-5C>G)
c.500-5C>G (n.500-5C>G)
n.38043G>C
11g.2661956C>TCA472236212KCNQ1,KCNQ1OT1c.1037-5C>T (n.1037-5C>T)
c.854-5C>T (n.854-5C>T)
c.1394-5C>T (n.1394-5C>T)
c.1013-5C>T (n.1013-5C>T)
c.500-5C>T (n.500-5C>T)
n.38043G>A
11g.2661957T>ACA472236213KCNQ1,KCNQ1OT1c.1037-4T>A (n.1037-4T>A)
c.854-4T>A (n.854-4T>A)
c.1394-4T>A (n.1394-4T>A)
c.1013-4T>A (n.1013-4T>A)
c.500-4T>A (n.500-4T>A)
n.38042A>T
11g.2661957T>CCA472236214KCNQ1,KCNQ1OT1c.1037-4T>C (n.1037-4T>C)
c.854-4T>C (n.854-4T>C)
c.1394-4T>C (n.1394-4T>C)
c.1013-4T>C (n.1013-4T>C)
c.500-4T>C (n.500-4T>C)
n.38042A>G
 gnomAD v4
11g.2661957T>GCA472236215KCNQ1,KCNQ1OT1c.1037-4T>G (n.1037-4T>G)
c.854-4T>G (n.854-4T>G)
c.1394-4T>G (n.1394-4T>G)
c.1013-4T>G (n.1013-4T>G)
c.500-4T>G (n.500-4T>G)
n.38042A>C
11g.2661958C>ACA472236217KCNQ1,KCNQ1OT1c.1037-3C>A (n.1037-3C>A)
c.854-3C>A (n.854-3C>A)
c.1394-3C>A (n.1394-3C>A)
c.1013-3C>A (n.1013-3C>A)
c.500-3C>A (n.500-3C>A)
n.38041G>T
11g.2661958C>GCA472236219KCNQ1,KCNQ1OT1c.1037-3C>G (n.1037-3C>G)
c.854-3C>G (n.854-3C>G)
c.1394-3C>G (n.1394-3C>G)
c.1013-3C>G (n.1013-3C>G)
c.500-3C>G (n.500-3C>G)
n.38041G>C
11g.2661958C>TCA472236221KCNQ1,KCNQ1OT1c.1037-3C>T (n.1037-3C>T)
c.854-3C>T (n.854-3C>T)
c.1394-3C>T (n.1394-3C>T)
c.1013-3C>T (n.1013-3C>T)
c.500-3C>T (n.500-3C>T)
n.38041G>A
 ClinVar dbSNP
11g.2661959A>CCA379479296KCNQ1,KCNQ1OT1c.1037-2A>C (n.1037-2A>C)
c.854-2A>C (n.854-2A>C)
c.1394-2A>C (n.1394-2A>C)
c.1013-2A>C (n.1013-2A>C)
c.500-2A>C (n.500-2A>C)
n.38040T>G
11g.2661959A>GCA379479298KCNQ1,KCNQ1OT1c.1037-2A>G (n.1037-2A>G)
c.854-2A>G (n.854-2A>G)
c.1394-2A>G (n.1394-2A>G)
c.1013-2A>G (n.1013-2A>G)
c.500-2A>G (n.500-2A>G)
n.38040T>C
 ClinVar dbSNP
11g.2661959A>TCA379479301KCNQ1,KCNQ1OT1c.1037-2A>T (n.1037-2A>T)
c.854-2A>T (n.854-2A>T)
c.1394-2A>T (n.1394-2A>T)
c.1013-2A>T (n.1013-2A>T)
c.500-2A>T (n.500-2A>T)
n.38040T>A
11g.2661960G>ACA379479306KCNQ1,KCNQ1OT1c.1037-1G>A (n.1037-1G>A)
c.854-1G>A (n.854-1G>A)
c.1394-1G>A (n.1394-1G>A)
c.1013-1G>A (n.1013-1G>A)
c.500-1G>A (n.500-1G>A)
n.38039C>T
11g.2661960G>CCA379479305KCNQ1,KCNQ1OT1c.1037-1G>C (n.1037-1G>C)
c.854-1G>C (n.854-1G>C)
c.1394-1G>C (n.1394-1G>C)
c.1013-1G>C (n.1013-1G>C)
c.500-1G>C (n.500-1G>C)
n.38039C>G
 ClinVar dbSNP
11g.2661960G=CA1948247532KCNQ1,KCNQ1OT1c.1037-1G= (n.1037-1G=)
c.854-1G= (n.854-1G=)
c.1394-1G= (n.1394-1G=)
c.1013-1G= (n.1013-1G=)
c.500-1G= (n.500-1G=)
n.38039C=
11g.2661960G>TCA005727KCNQ1,KCNQ1OT1c.1037-1G>T (n.1037-1G>T)
c.854-1G>T (n.854-1G>T)
c.1394-1G>T (n.1394-1G>T)
c.1013-1G>T (n.1013-1G>T)
c.500-1G>T (n.500-1G>T)
n.38039C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2661961T>ACA379479309KCNQ1,KCNQ1OT1c.1037T>A (p.Val346Glu)
c.854T>A (p.Val285Glu)
c.1394T>A (p.Val465Glu)
c.1013T>A (p.Val338Glu)
c.500T>A (p.Val167Glu)
n.38038A>T
11g.2661961T>CCA379479311KCNQ1,KCNQ1OT1c.1037T>C (p.Val346Ala)
c.854T>C (p.Val285Ala)
c.1394T>C (p.Val465Ala)
c.1013T>C (p.Val338Ala)
c.500T>C (p.Val167Ala)
n.38038A>G
11g.2661961T>GCA379479314KCNQ1,KCNQ1OT1c.1037T>G (p.Val346Gly)
c.854T>G (p.Val285Gly)
c.1394T>G (p.Val465Gly)
c.1013T>G (p.Val338Gly)
c.500T>G (p.Val167Gly)
n.38038A>C
11g.2661962A>CCA472236227KCNQ1,KCNQ1OT1c.1038A>C (p.Val346=)
c.855A>C (p.Val285=)
c.1395A>C (p.Val465=)
c.1014A>C (p.Val338=)
c.501A>C (p.Val167=)
n.38037T>G
11g.2661962A>GCA472236229KCNQ1,KCNQ1OT1c.1038A>G (p.Val346=)
c.855A>G (p.Val285=)
c.1395A>G (p.Val465=)
c.1014A>G (p.Val338=)
c.501A>G (p.Val167=)
n.38037T>C
 gnomAD v4
11g.2661962A>TCA472236228KCNQ1,KCNQ1OT1c.1038A>T (p.Val346=)
c.855A>T (p.Val285=)
c.1395A>T (p.Val465=)
c.1014A>T (p.Val338=)
c.501A>T (p.Val167=)
n.38037T>A
11g.2661963A>CCA472236230KCNQ1,KCNQ1OT1c.1039A>C (p.Arg347=)
c.856A>C (p.Arg286=)
c.1396A>C (p.Arg466=)
c.1015A>C (p.Arg339=)
c.502A>C (p.Arg168=)
n.38036T>G
11g.2661963A>GCA379479316KCNQ1,KCNQ1OT1c.1039A>G (p.Arg347Gly)
c.856A>G (p.Arg286Gly)
c.1396A>G (p.Arg466Gly)
c.1015A>G (p.Arg339Gly)
c.502A>G (p.Arg168Gly)
n.38036T>C
11g.2661963A>TCA379479319KCNQ1,KCNQ1OT1c.1039A>T (p.Arg347Trp)
c.856A>T (p.Arg286Trp)
c.1396A>T (p.Arg466Trp)
c.1015A>T (p.Arg339Trp)
c.502A>T (p.Arg168Trp)
n.38036T>A
11g.2661964G>ACA379479327KCNQ1,KCNQ1OT1c.1040G>A (p.Arg347Lys)
c.857G>A (p.Arg286Lys)
c.1397G>A (p.Arg466Lys)
c.1016G>A (p.Arg339Lys)
c.503G>A (p.Arg168Lys)
n.38035C>T
11g.2661964G>CCA379479325KCNQ1,KCNQ1OT1c.1040G>C (p.Arg347Thr)
c.857G>C (p.Arg286Thr)
c.1397G>C (p.Arg466Thr)
c.1016G>C (p.Arg339Thr)
c.503G>C (p.Arg168Thr)
n.38035C>G
11g.2661964G>TCA379479322KCNQ1,KCNQ1OT1c.1040G>T (p.Arg347Met)
c.857G>T (p.Arg286Met)
c.1397G>T (p.Arg466Met)
c.1016G>T (p.Arg339Met)
c.503G>T (p.Arg168Met)
n.38035C>A
11g.2661965G>ACA029822KCNQ1,KCNQ1OT1c.1041G>A (p.Arg347=)
c.858G>A (p.Arg286=)
c.1398G>A (p.Arg466=)
c.1017G>A (p.Arg339=)
c.504G>A (p.Arg168=)
n.38034C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2661965G>CCA379479334KCNQ1,KCNQ1OT1c.1041G>C (p.Arg347Ser)
c.858G>C (p.Arg286Ser)
c.1398G>C (p.Arg466Ser)
c.1017G>C (p.Arg339Ser)
c.504G>C (p.Arg168Ser)
n.38034C>G
11g.2661965G=CA1948247538KCNQ1,KCNQ1OT1c.1041G= (p.Arg347=)
c.858G= (p.Arg286=)
c.1398G= (p.Arg466=)
c.1017G= (p.Arg339=)
c.504G= (p.Arg168=)
n.38034C=
11g.2661965G>TCA379479336KCNQ1,KCNQ1OT1c.1041G>T (p.Arg347Ser)
c.858G>T (p.Arg286Ser)
c.1398G>T (p.Arg466Ser)
c.1017G>T (p.Arg339Ser)
c.504G>T (p.Arg168Ser)
n.38034C>A
11g.2661966A>CCA379479339KCNQ1,KCNQ1OT1c.1042A>C (p.Lys348Gln)
c.859A>C (p.Lys287Gln)
c.1399A>C (p.Lys467Gln)
c.1018A>C (p.Lys340Gln)
c.505A>C (p.Lys169Gln)
n.38033T>G
11g.2661966A>GCA379479340KCNQ1,KCNQ1OT1c.1042A>G (p.Lys348Glu)
c.859A>G (p.Lys287Glu)
c.1399A>G (p.Lys467Glu)
c.1018A>G (p.Lys340Glu)
c.505A>G (p.Lys169Glu)
n.38033T>C
11g.2661966A>TCA379479341KCNQ1,KCNQ1OT1c.1042A>T (p.Lys348Ter)
c.859A>T (p.Lys287Ter)
c.1399A>T (p.Lys467Ter)
c.1018A>T (p.Lys340Ter)
c.505A>T (p.Lys169Ter)
n.38033T>A
11g.2661967delCA2612007029KCNQ1,KCNQ1OT1c.1043del (p.Lys348ArgfsTer8)
c.860del (p.Lys287ArgfsTer8)
c.1400del (p.Lys467ArgfsTer8)
c.1019del (p.Lys340ArgfsTer8)
c.506del (p.Lys169ArgfsTer8)
n.38033del
 gnomAD v4
11g.2661967A=CA1948247546KCNQ1,KCNQ1OT1c.1043A= (p.Lys348=)
c.860A= (p.Lys287=)
c.1400A= (p.Lys467=)
c.1019A= (p.Lys340=)
c.506A= (p.Lys169=)
n.38032T=
11g.2661967A>CCA379479342KCNQ1,KCNQ1OT1c.1043A>C (p.Lys348Thr)
c.860A>C (p.Lys287Thr)
c.1400A>C (p.Lys467Thr)
c.1019A>C (p.Lys340Thr)
c.506A>C (p.Lys169Thr)
n.38032T>G
 gnomAD v4
11g.2661967A>GCA379479346KCNQ1,KCNQ1OT1c.1043A>G (p.Lys348Arg)
c.860A>G (p.Lys287Arg)
c.1400A>G (p.Lys467Arg)
c.1019A>G (p.Lys340Arg)
c.506A>G (p.Lys169Arg)
n.38032T>C
 dbSNP gnomAD v2 gnomAD v4
11g.2661967A>TCA379479344KCNQ1,KCNQ1OT1c.1043A>T (p.Lys348Met)
c.860A>T (p.Lys287Met)
c.1400A>T (p.Lys467Met)
c.1019A>T (p.Lys340Met)
c.506A>T (p.Lys169Met)
n.38032T>A
11g.2661968G>ACA472236244KCNQ1,KCNQ1OT1c.1044G>A (p.Lys348=)
c.861G>A (p.Lys287=)
c.1401G>A (p.Lys467=)
c.1020G>A (p.Lys340=)
c.507G>A (p.Lys169=)
n.38031C>T
11g.2661968G>CCA379479350KCNQ1,KCNQ1OT1c.1044G>C (p.Lys348Asn)
c.861G>C (p.Lys287Asn)
c.1401G>C (p.Lys467Asn)
c.1020G>C (p.Lys340Asn)
c.507G>C (p.Lys169Asn)
n.38031C>G
11g.2661968G>TCA379479351KCNQ1,KCNQ1OT1c.1044G>T (p.Lys348Asn)
c.861G>T (p.Lys287Asn)
c.1401G>T (p.Lys467Asn)
c.1020G>T (p.Lys340Asn)
c.507G>T (p.Lys169Asn)
n.38031C>A
11g.2661969A=CA1948247550KCNQ1,KCNQ1OT1c.1045A= (p.Ser349=)
c.862A= (p.Ser288=)
c.1402A= (p.Ser468=)
c.1021A= (p.Ser341=)
c.508A= (p.Ser170=)
n.38030T=
11g.2661969A>CCA379479355KCNQ1,KCNQ1OT1c.1045A>C (p.Ser349Arg)
c.862A>C (p.Ser288Arg)
c.1402A>C (p.Ser468Arg)
c.1021A>C (p.Ser341Arg)
c.508A>C (p.Ser170Arg)
n.38030T>G
11g.2661969A>GCA029853KCNQ1,KCNQ1OT1c.1045A>G (p.Ser349Gly)
c.862A>G (p.Ser288Gly)
c.1402A>G (p.Ser468Gly)
c.1021A>G (p.Ser341Gly)
c.508A>G (p.Ser170Gly)
n.38030T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2661969A>TCA379479358KCNQ1,KCNQ1OT1c.1045A>T (p.Ser349Cys)
c.862A>T (p.Ser288Cys)
c.1402A>T (p.Ser468Cys)
c.1021A>T (p.Ser341Cys)
c.508A>T (p.Ser170Cys)
n.38030T>A
11g.2661970G>ACA379479360KCNQ1,KCNQ1OT1c.1046G>A (p.Ser349Asn)
c.863G>A (p.Ser288Asn)
c.1403G>A (p.Ser468Asn)
c.1022G>A (p.Ser341Asn)
c.509G>A (p.Ser170Asn)
n.38029C>T
 dbSNP gnomAD v2 gnomAD v4
11g.2661970G>CCA379479370KCNQ1,KCNQ1OT1c.1046G>C (p.Ser349Thr)
c.863G>C (p.Ser288Thr)
c.1403G>C (p.Ser468Thr)
c.1022G>C (p.Ser341Thr)
c.509G>C (p.Ser170Thr)
n.38029C>G
11g.2661970G=CA1948247552KCNQ1,KCNQ1OT1c.1046G= (p.Ser349=)
c.863G= (p.Ser288=)
c.1403G= (p.Ser468=)
c.1022G= (p.Ser341=)
c.509G= (p.Ser170=)
n.38029C=
11g.2661970G>TCA379479371KCNQ1,KCNQ1OT1c.1046G>T (p.Ser349Ile)
c.863G>T (p.Ser288Ile)
c.1403G>T (p.Ser468Ile)
c.1022G>T (p.Ser341Ile)
c.509G>T (p.Ser170Ile)
n.38029C>A
11g.2661971C>ACA379479372KCNQ1,KCNQ1OT1c.1047C>A (p.Ser349Arg)
c.864C>A (p.Ser288Arg)
c.1404C>A (p.Ser468Arg)
c.1023C>A (p.Ser341Arg)
c.510C>A (p.Ser170Arg)
n.38028G>T
11g.2661971C=CA1948247556KCNQ1,KCNQ1OT1c.1047C= (p.Ser349=)
c.864C= (p.Ser288=)
c.1404C= (p.Ser468=)
c.1023C= (p.Ser341=)
c.510C= (p.Ser170=)
n.38028G=
11g.2661971C>GCA379479373KCNQ1,KCNQ1OT1c.1047C>G (p.Ser349Arg)
c.864C>G (p.Ser288Arg)
c.1404C>G (p.Ser468Arg)
c.1023C>G (p.Ser341Arg)
c.510C>G (p.Ser170Arg)
n.38028G>C
11g.2661971C>TCA472236247KCNQ1,KCNQ1OT1c.1047C>T (p.Ser349=)
c.864C>T (p.Ser288=)
c.1404C>T (p.Ser468=)
c.1023C>T (p.Ser341=)
c.510C>T (p.Ser170=)
n.38028G>A
 dbSNP gnomAD v3 gnomAD v4
11g.2661972C>ACA379479376KCNQ1,KCNQ1OT1c.1048C>A (p.Pro350Thr)
c.865C>A (p.Pro289Thr)
c.1405C>A (p.Pro469Thr)
c.1024C>A (p.Pro342Thr)
c.511C>A (p.Pro171Thr)
n.38027G>T
11g.2661972C>GCA379479380KCNQ1,KCNQ1OT1c.1048C>G (p.Pro350Ala)
c.865C>G (p.Pro289Ala)
c.1405C>G (p.Pro469Ala)
c.1024C>G (p.Pro342Ala)
c.511C>G (p.Pro171Ala)
n.38027G>C
11g.2661972C>TCA379479378KCNQ1,KCNQ1OT1c.1048C>T (p.Pro350Ser)
c.865C>T (p.Pro289Ser)
c.1405C>T (p.Pro469Ser)
c.1024C>T (p.Pro342Ser)
c.511C>T (p.Pro171Ser)
n.38027G>A
 ClinVar
11g.2661973C>ACA379479382KCNQ1,KCNQ1OT1c.1049C>A (p.Pro350Gln)
c.866C>A (p.Pro289Gln)
c.1406C>A (p.Pro469Gln)
c.1025C>A (p.Pro342Gln)
c.512C>A (p.Pro171Gln)
n.38026G>T
11g.2661973C>GCA379479387KCNQ1,KCNQ1OT1c.1049C>G (p.Pro350Arg)
c.866C>G (p.Pro289Arg)
c.1406C>G (p.Pro469Arg)
c.1025C>G (p.Pro342Arg)
c.512C>G (p.Pro171Arg)
n.38026G>C
 gnomAD v4
11g.2661973C>TCA379479383KCNQ1,KCNQ1OT1c.1049C>T (p.Pro350Leu)
c.866C>T (p.Pro289Leu)
c.1406C>T (p.Pro469Leu)
c.1025C>T (p.Pro342Leu)
c.512C>T (p.Pro171Leu)
n.38026G>A
 ClinVar
11g.2661974A>CCA472236249KCNQ1,KCNQ1OT1c.1050A>C (p.Pro350=)
c.867A>C (p.Pro289=)
c.1407A>C (p.Pro469=)
c.1026A>C (p.Pro342=)
c.513A>C (p.Pro171=)
n.38025T>G
11g.2661974A>GCA472236250KCNQ1,KCNQ1OT1c.1050A>G (p.Pro350=)
c.867A>G (p.Pro289=)
c.1407A>G (p.Pro469=)
c.1026A>G (p.Pro342=)
c.513A>G (p.Pro171=)
n.38025T>C
11g.2661974A>TCA472236251KCNQ1,KCNQ1OT1c.1050A>T (p.Pro350=)
c.867A>T (p.Pro289=)
c.1407A>T (p.Pro469=)
c.1026A>T (p.Pro342=)
c.513A>T (p.Pro171=)
n.38025T>A
11g.2661975A>CCA379479389KCNQ1,KCNQ1OT1c.1051A>C (p.Thr351Pro)
c.868A>C (p.Thr290Pro)
c.1408A>C (p.Thr470Pro)
c.1027A>C (p.Thr343Pro)
c.514A>C (p.Thr172Pro)
n.38024T>G
11g.2661975A>GCA379479393KCNQ1,KCNQ1OT1c.1051A>G (p.Thr351Ala)
c.868A>G (p.Thr290Ala)
c.1408A>G (p.Thr470Ala)
c.1027A>G (p.Thr343Ala)
c.514A>G (p.Thr172Ala)
n.38024T>C
 ClinVar dbSNP gnomAD v4
11g.2661975A>TCA379479391KCNQ1,KCNQ1OT1c.1051A>T (p.Thr351Ser)
c.868A>T (p.Thr290Ser)
c.1408A>T (p.Thr470Ser)
c.1027A>T (p.Thr343Ser)
c.514A>T (p.Thr172Ser)
n.38024T>A
11g.2661976C>ACA379479394KCNQ1,KCNQ1OT1c.1052C>A (p.Thr351Lys)
c.869C>A (p.Thr290Lys)
c.1409C>A (p.Thr470Lys)
c.1028C>A (p.Thr343Lys)
c.515C>A (p.Thr172Lys)
n.38023G>T
11g.2661976C=CA1948247563KCNQ1,KCNQ1OT1c.1052C= (p.Thr351=)
c.869C= (p.Thr290=)
c.1409C= (p.Thr470=)
c.1028C= (p.Thr343=)
c.515C= (p.Thr172=)
n.38023G=
11g.2661976C>GCA379479397KCNQ1,KCNQ1OT1c.1052C>G (p.Thr351Arg)
c.869C>G (p.Thr290Arg)
c.1409C>G (p.Thr470Arg)
c.1028C>G (p.Thr343Arg)
c.515C>G (p.Thr172Arg)
n.38023G>C
11g.2661976C>TCA379479396KCNQ1,KCNQ1OT1c.1052C>T (p.Thr351Ile)
c.869C>T (p.Thr290Ile)
c.1409C>T (p.Thr470Ile)
c.1028C>T (p.Thr343Ile)
c.515C>T (p.Thr172Ile)
n.38023G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2661977A>CCA472236256KCNQ1,KCNQ1OT1c.1053A>C (p.Thr351=)
c.870A>C (p.Thr290=)
c.1410A>C (p.Thr470=)
c.1029A>C (p.Thr343=)
c.516A>C (p.Thr172=)
n.38022T>G
11g.2661977A>GCA472236253KCNQ1,KCNQ1OT1c.1053A>G (p.Thr351=)
c.870A>G (p.Thr290=)
c.1410A>G (p.Thr470=)
c.1029A>G (p.Thr343=)
c.516A>G (p.Thr172=)
n.38022T>C
11g.2661977A>TCA472236254KCNQ1,KCNQ1OT1c.1053A>T (p.Thr351=)
c.870A>T (p.Thr290=)
c.1410A>T (p.Thr470=)
c.1029A>T (p.Thr343=)
c.516A>T (p.Thr172=)
n.38022T>A
11g.2661978C>ACA379479400KCNQ1,KCNQ1OT1c.1054C>A (p.Leu352Met)
c.871C>A (p.Leu291Met)
c.1411C>A (p.Leu471Met)
c.1030C>A (p.Leu344Met)
c.517C>A (p.Leu173Met)
n.38021G>T
 ClinVar dbSNP
11g.2661978C=CA1948247570KCNQ1,KCNQ1OT1c.1054C= (p.Leu352=)
c.871C= (p.Leu291=)
c.1411C= (p.Leu471=)
c.1030C= (p.Leu344=)
c.517C= (p.Leu173=)
n.38021G=
11g.2661978C>GCA379479402KCNQ1,KCNQ1OT1c.1054C>G (p.Leu352Val)
c.871C>G (p.Leu291Val)
c.1411C>G (p.Leu471Val)
c.1030C>G (p.Leu344Val)
c.517C>G (p.Leu173Val)
n.38021G>C
11g.2661978C>TCA472236260KCNQ1,KCNQ1OT1c.1054C>T (p.Leu352=)
c.871C>T (p.Leu291=)
c.1411C>T (p.Leu471=)
c.1030C>T (p.Leu344=)
c.517C>T (p.Leu173=)
n.38021G>A
11g.2661979T>ACA379479403KCNQ1,KCNQ1OT1c.1055T>A (p.Leu352Gln)
c.872T>A (p.Leu291Gln)
c.1412T>A (p.Leu471Gln)
c.1031T>A (p.Leu344Gln)
c.518T>A (p.Leu173Gln)
n.38020A>T
11g.2661979T>CCA379479408KCNQ1,KCNQ1OT1c.1055T>C (p.Leu352Pro)
c.872T>C (p.Leu291Pro)
c.1412T>C (p.Leu471Pro)
c.1031T>C (p.Leu344Pro)
c.518T>C (p.Leu173Pro)
n.38020A>G
 dbSNP gnomAD v2
11g.2661979T>GCA379479406KCNQ1,KCNQ1OT1c.1055T>G (p.Leu352Arg)
c.872T>G (p.Leu291Arg)
c.1412T>G (p.Leu471Arg)
c.1031T>G (p.Leu344Arg)
c.518T>G (p.Leu173Arg)
n.38020A>C
 gnomAD v4
11g.2661979T=CA1948247578KCNQ1,KCNQ1OT1c.1055T= (p.Leu352=)
c.872T= (p.Leu291=)
c.1412T= (p.Leu471=)
c.1031T= (p.Leu344=)
c.518T= (p.Leu173=)
n.38020A=
11g.2661980G>ACA472236263KCNQ1,KCNQ1OT1c.1056G>A (p.Leu352=)
c.873G>A (p.Leu291=)
c.1413G>A (p.Leu471=)
c.1032G>A (p.Leu344=)
c.519G>A (p.Leu173=)
n.38019C>T
 dbSNP
11g.2661980G>CCA472236264KCNQ1,KCNQ1OT1c.1056G>C (p.Leu352=)
c.873G>C (p.Leu291=)
c.1413G>C (p.Leu471=)
c.1032G>C (p.Leu344=)
c.519G>C (p.Leu173=)
n.38019C>G
11g.2661980G=CA1948247582KCNQ1,KCNQ1OT1c.1056G= (p.Leu352=)
c.873G= (p.Leu291=)
c.1413G= (p.Leu471=)
c.1032G= (p.Leu344=)
c.519G= (p.Leu173=)
n.38019C=
11g.2661980G>TCA472236265KCNQ1,KCNQ1OT1c.1056G>T (p.Leu352=)
c.873G>T (p.Leu291=)
c.1413G>T (p.Leu471=)
c.1032G>T (p.Leu344=)
c.519G>T (p.Leu173=)
n.38019C>A
11g.2661981C>ACA379479409KCNQ1,KCNQ1OT1c.1057C>A (p.Leu353Met)
c.874C>A (p.Leu292Met)
c.1414C>A (p.Leu472Met)
c.1033C>A (p.Leu345Met)
c.520C>A (p.Leu174Met)
n.38018G>T
11g.2661981C>GCA379479410KCNQ1,KCNQ1OT1c.1057C>G (p.Leu353Val)
c.874C>G (p.Leu292Val)
c.1414C>G (p.Leu472Val)
c.1033C>G (p.Leu345Val)
c.520C>G (p.Leu174Val)
n.38018G>C
11g.2661981C>TCA472236267KCNQ1,KCNQ1OT1c.1057C>T (p.Leu353=)
c.874C>T (p.Leu292=)
c.1414C>T (p.Leu472=)
c.1033C>T (p.Leu345=)
c.520C>T (p.Leu174=)
n.38018G>A
11g.2661982T>ACA379479411KCNQ1,KCNQ1OT1c.1058T>A (p.Leu353Gln)
c.875T>A (p.Leu292Gln)
c.1415T>A (p.Leu472Gln)
c.1034T>A (p.Leu345Gln)
c.521T>A (p.Leu174Gln)
n.38017A>T
11g.2661982T>CCA216170727KCNQ1,KCNQ1OT1c.1058T>C (p.Leu353Pro)
c.875T>C (p.Leu292Pro)
c.1415T>C (p.Leu472Pro)
c.1034T>C (p.Leu345Pro)
c.521T>C (p.Leu174Pro)
n.38017A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2661982T>GCA379479412KCNQ1,KCNQ1OT1c.1058T>G (p.Leu353Arg)
c.875T>G (p.Leu292Arg)
c.1415T>G (p.Leu472Arg)
c.1034T>G (p.Leu345Arg)
c.521T>G (p.Leu174Arg)
n.38017A>C
11g.2661982T=CA1948247587KCNQ1,KCNQ1OT1c.1058T= (p.Leu353=)
c.875T= (p.Leu292=)
c.1415T= (p.Leu472=)
c.1034T= (p.Leu345=)
c.521T= (p.Leu174=)
n.38017A=
11g.2661983G>ACA472236268KCNQ1,KCNQ1OT1c.1059G>A (p.Leu353=)
c.876G>A (p.Leu292=)
c.1416G>A (p.Leu472=)
c.1035G>A (p.Leu345=)
c.522G>A (p.Leu174=)
n.38016C>T
 dbSNP
11g.2661983G>CCA472236269KCNQ1,KCNQ1OT1c.1059G>C (p.Leu353=)
c.876G>C (p.Leu292=)
c.1416G>C (p.Leu472=)
c.1035G>C (p.Leu345=)
c.522G>C (p.Leu174=)
n.38016C>G
11g.2661983G=CA1948247594KCNQ1,KCNQ1OT1c.1059G= (p.Leu353=)
c.876G= (p.Leu292=)
c.1416G= (p.Leu472=)
c.1035G= (p.Leu345=)
c.522G= (p.Leu174=)
n.38016C=
11g.2661983G>TCA472236270KCNQ1,KCNQ1OT1c.1059G>T (p.Leu353=)
c.876G>T (p.Leu292=)
c.1416G>T (p.Leu472=)
c.1035G>T (p.Leu345=)
c.522G>T (p.Leu174=)
n.38016C>A
11g.2661984G>ACA379479414KCNQ1,KCNQ1OT1c.1060G>A (p.Glu354Lys)
c.877G>A (p.Glu293Lys)
c.1417G>A (p.Glu473Lys)
c.1036G>A (p.Glu346Lys)
c.523G>A (p.Glu175Lys)
n.38015C>T
 COSMIC
11g.2661984G>CCA029873KCNQ1,KCNQ1OT1c.1060G>C (p.Glu354Gln)
c.877G>C (p.Glu293Gln)
c.1417G>C (p.Glu473Gln)
c.1036G>C (p.Glu346Gln)
c.523G>C (p.Glu175Gln)
n.38015C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2661984G=CA1948247612KCNQ1,KCNQ1OT1c.1060G= (p.Glu354=)
c.877G= (p.Glu293=)
c.1417G= (p.Glu473=)
c.1036G= (p.Glu346=)
c.523G= (p.Glu175=)
n.38015C=
11g.2661984G>TCA379479417KCNQ1,KCNQ1OT1c.1060G>T (p.Glu354Ter)
c.877G>T (p.Glu293Ter)
c.1417G>T (p.Glu473Ter)
c.1036G>T (p.Glu346Ter)
c.523G>T (p.Glu175Ter)
n.38015C>A
11g.2661985A>CCA379479419KCNQ1,KCNQ1OT1c.1061A>C (p.Glu354Ala)
c.878A>C (p.Glu293Ala)
c.1418A>C (p.Glu473Ala)
c.1037A>C (p.Glu346Ala)
c.524A>C (p.Glu175Ala)
n.38014T>G
11g.2661985A>GCA379479422KCNQ1,KCNQ1OT1c.1061A>G (p.Glu354Gly)
c.878A>G (p.Glu293Gly)
c.1418A>G (p.Glu473Gly)
c.1037A>G (p.Glu346Gly)
c.524A>G (p.Glu175Gly)
n.38014T>C
11g.2661985A>TCA379479423KCNQ1,KCNQ1OT1c.1061A>T (p.Glu354Val)
c.878A>T (p.Glu293Val)
c.1418A>T (p.Glu473Val)
c.1037A>T (p.Glu346Val)
c.524A>T (p.Glu175Val)
n.38014T>A
11g.2661986A>CCA379479427KCNQ1,KCNQ1OT1c.1062A>C (p.Glu354Asp)
c.879A>C (p.Glu293Asp)
c.1419A>C (p.Glu473Asp)
c.1038A>C (p.Glu346Asp)
c.525A>C (p.Glu175Asp)
n.38013T>G
11g.2661986A>GCA472236277KCNQ1,KCNQ1OT1c.1062A>G (p.Glu354=)
c.879A>G (p.Glu293=)
c.1419A>G (p.Glu473=)
c.1038A>G (p.Glu346=)
c.525A>G (p.Glu175=)
n.38013T>C
 gnomAD v4
11g.2661986A>TCA379479428KCNQ1,KCNQ1OT1c.1062A>T (p.Glu354Asp)
c.879A>T (p.Glu293Asp)
c.1419A>T (p.Glu473Asp)
c.1038A>T (p.Glu346Asp)
c.525A>T (p.Glu175Asp)
n.38013T>A
11g.2661987G>ACA379479430KCNQ1,KCNQ1OT1c.1063G>A (p.Val355Met)
c.880G>A (p.Val294Met)
c.1420G>A (p.Val474Met)
c.1039G>A (p.Val347Met)
c.526G>A (p.Val176Met)
n.38012C>T
 COSMIC COSMIC
11g.2661987G>CCA379479431KCNQ1,KCNQ1OT1c.1063G>C (p.Val355Leu)
c.880G>C (p.Val294Leu)
c.1420G>C (p.Val474Leu)
c.1039G>C (p.Val347Leu)
c.526G>C (p.Val176Leu)
n.38012C>G
11g.2661987G>TCA379479432KCNQ1,KCNQ1OT1c.1063G>T (p.Val355Leu)
c.880G>T (p.Val294Leu)
c.1420G>T (p.Val474Leu)
c.1039G>T (p.Val347Leu)
c.526G>T (p.Val176Leu)
n.38012C>A
 ClinVar
11g.2661988T>ACA379479435KCNQ1,KCNQ1OT1c.1064T>A (p.Val355Glu)
c.881T>A (p.Val294Glu)
c.1421T>A (p.Val474Glu)
c.1040T>A (p.Val347Glu)
c.527T>A (p.Val176Glu)
n.38011A>T
11g.2661988T>CCA379479436KCNQ1,KCNQ1OT1c.1064T>C (p.Val355Ala)
c.881T>C (p.Val294Ala)
c.1421T>C (p.Val474Ala)
c.1040T>C (p.Val347Ala)
c.527T>C (p.Val176Ala)
n.38011A>G
11g.2661988T>GCA379479438KCNQ1,KCNQ1OT1c.1064T>G (p.Val355Gly)
c.881T>G (p.Val294Gly)
c.1421T>G (p.Val474Gly)
c.1040T>G (p.Val347Gly)
c.527T>G (p.Val176Gly)
n.38011A>C
11g.2661989G>ACA472236280KCNQ1,KCNQ1OT1c.1065G>A (p.Val355=)
c.882G>A (p.Val294=)
c.1422G>A (p.Val474=)
c.1041G>A (p.Val347=)
c.528G>A (p.Val176=)
n.38010C>T
 dbSNP
11g.2661989G>CCA472236278KCNQ1,KCNQ1OT1c.1065G>C (p.Val355=)
c.882G>C (p.Val294=)
c.1422G>C (p.Val474=)
c.1041G>C (p.Val347=)
c.528G>C (p.Val176=)
n.38010C>G
11g.2661989G=CA1948247618KCNQ1,KCNQ1OT1c.1065G= (p.Val355=)
c.882G= (p.Val294=)
c.1422G= (p.Val474=)
c.1041G= (p.Val347=)
c.528G= (p.Val176=)
n.38010C=
11g.2661989G>TCA472236279KCNQ1,KCNQ1OT1c.1065G>T (p.Val355=)
c.882G>T (p.Val294=)
c.1422G>T (p.Val474=)
c.1041G>T (p.Val347=)
c.528G>T (p.Val176=)
n.38010C>A
11g.2661990A=CA1948247621KCNQ1,KCNQ1OT1c.1066A= (p.Ser356=)
c.883A= (p.Ser295=)
c.1423A= (p.Ser475=)
c.1042A= (p.Ser348=)
c.529A= (p.Ser177=)
n.38009T=
11g.2661990A>CCA379479448KCNQ1,KCNQ1OT1c.1066A>C (p.Ser356Arg)
c.883A>C (p.Ser295Arg)
c.1423A>C (p.Ser475Arg)
c.1042A>C (p.Ser348Arg)
c.529A>C (p.Ser177Arg)
n.38009T>G
 dbSNP
11g.2661990A>GCA379479440KCNQ1,KCNQ1OT1c.1066A>G (p.Ser356Gly)
c.883A>G (p.Ser295Gly)
c.1423A>G (p.Ser475Gly)
c.1042A>G (p.Ser348Gly)
c.529A>G (p.Ser177Gly)
n.38009T>C
 gnomAD v4
11g.2661990A>TCA379479445KCNQ1,KCNQ1OT1c.1066A>T (p.Ser356Cys)
c.883A>T (p.Ser295Cys)
c.1423A>T (p.Ser475Cys)
c.1042A>T (p.Ser348Cys)
c.529A>T (p.Ser177Cys)
n.38009T>A
11g.2661990_2661994delinsAGCATCA1948247620KCNQ1,KCNQ1OT1c.1066_1070delinsAGCAT (p.Ser356=)
c.883_887delinsAGCAT (p.Ser295=)
c.1423_1427delinsAGCAT (p.Ser475=)
c.1042_1046delinsAGCAT (p.Ser348=)
c.529_533delinsAGCAT (p.Ser177=)
n.38005_38009delinsATGCT
11g.2661991G>ACA379479450KCNQ1,KCNQ1OT1c.1067G>A (p.Ser356Asn)
c.884G>A (p.Ser295Asn)
c.1424G>A (p.Ser475Asn)
c.1043G>A (p.Ser348Asn)
c.530G>A (p.Ser177Asn)
n.38008C>T
 gnomAD v4
11g.2661991G>CCA379479452KCNQ1,KCNQ1OT1c.1067G>C (p.Ser356Thr)
c.884G>C (p.Ser295Thr)
c.1424G>C (p.Ser475Thr)
c.1043G>C (p.Ser348Thr)
c.530G>C (p.Ser177Thr)
n.38008C>G
11g.2661991G>TCA379479454KCNQ1,KCNQ1OT1c.1067G>T (p.Ser356Ile)
c.884G>T (p.Ser295Ile)
c.1424G>T (p.Ser475Ile)
c.1043G>T (p.Ser348Ile)
c.530G>T (p.Ser177Ile)
n.38008C>A
11g.2661993_2661996delCA658683666KCNQ1,KCNQ1OT1c.1069_1072del (p.Met357ProfsTer4)
c.886_889del (p.Met296ProfsTer4)
c.1426_1429del (p.Met476ProfsTer4)
c.1045_1048del (p.Met349ProfsTer4)
c.532_535del (p.Met178ProfsTer4)
n.38005_38008del
 ClinVar dbSNP
11g.2661992C>ACA379479456KCNQ1,KCNQ1OT1c.1068C>A (p.Ser356Arg)
c.885C>A (p.Ser295Arg)
c.1425C>A (p.Ser475Arg)
c.1044C>A (p.Ser348Arg)
c.531C>A (p.Ser177Arg)
n.38007G>T
11g.2661992C=CA1948247632KCNQ1,KCNQ1OT1c.1068C= (p.Ser356=)
c.885C= (p.Ser295=)
c.1425C= (p.Ser475=)
c.1044C= (p.Ser348=)
c.531C= (p.Ser177=)
n.38007G=
11g.2661992C>GCA379479458KCNQ1,KCNQ1OT1c.1068C>G (p.Ser356Arg)
c.885C>G (p.Ser295Arg)
c.1425C>G (p.Ser475Arg)
c.1044C>G (p.Ser348Arg)
c.531C>G (p.Ser177Arg)
n.38007G>C
11g.2661992C>TCA029890KCNQ1,KCNQ1OT1c.1068C>T (p.Ser356=)
c.885C>T (p.Ser295=)
c.1425C>T (p.Ser475=)
c.1044C>T (p.Ser348=)
c.531C>T (p.Ser177=)
n.38007G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661993A=CA1948247638KCNQ1,KCNQ1OT1c.1069A= (p.Met357=)
c.886A= (p.Met296=)
c.1426A= (p.Met476=)
c.1045A= (p.Met349=)
c.532A= (p.Met178=)
n.38006T=
11g.2661993A>CCA379479461KCNQ1,KCNQ1OT1c.1069A>C (p.Met357Leu)
c.886A>C (p.Met296Leu)
c.1426A>C (p.Met476Leu)
c.1045A>C (p.Met349Leu)
c.532A>C (p.Met178Leu)
n.38006T>G
11g.2661993A>GCA005752KCNQ1,KCNQ1OT1c.1069A>G (p.Met357Val)
c.886A>G (p.Met296Val)
c.1426A>G (p.Met476Val)
c.1045A>G (p.Met349Val)
c.532A>G (p.Met178Val)
n.38006T>C
 ClinVar dbSNP gnomAD v2
11g.2661993A>TCA379479469KCNQ1,KCNQ1OT1c.1069A>T (p.Met357Leu)
c.886A>T (p.Met296Leu)
c.1426A>T (p.Met476Leu)
c.1045A>T (p.Met349Leu)
c.532A>T (p.Met178Leu)
n.38006T>A
11g.2661994T>ACA379479475KCNQ1,KCNQ1OT1c.1070T>A (p.Met357Lys)
c.887T>A (p.Met296Lys)
c.1427T>A (p.Met476Lys)
c.1046T>A (p.Met349Lys)
c.533T>A (p.Met178Lys)
n.38005A>T
11g.2661994T>CCA029908KCNQ1,KCNQ1OT1c.1070T>C (p.Met357Thr)
c.887T>C (p.Met296Thr)
c.1427T>C (p.Met476Thr)
c.1046T>C (p.Met349Thr)
c.533T>C (p.Met178Thr)
n.38005A>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.2661994T>GCA379479472KCNQ1,KCNQ1OT1c.1070T>G (p.Met357Arg)
c.887T>G (p.Met296Arg)
c.1427T>G (p.Met476Arg)
c.1046T>G (p.Met349Arg)
c.533T>G (p.Met178Arg)
n.38005A>C
11g.2661994T=CA1948247644KCNQ1,KCNQ1OT1c.1070T= (p.Met357=)
c.887T= (p.Met296=)
c.1427T= (p.Met476=)
c.1046T= (p.Met349=)
c.533T= (p.Met178=)
n.38005A=
11g.2661995G>ACA379479476KCNQ1,KCNQ1OT1c.1071G>A (p.Met357Ile)
c.888G>A (p.Met296Ile)
c.1428G>A (p.Met476Ile)
c.1047G>A (p.Met349Ile)
c.534G>A (p.Met178Ile)
n.38004C>T
 dbSNP
11g.2661995G>CCA379479477KCNQ1,KCNQ1OT1c.1071G>C (p.Met357Ile)
c.888G>C (p.Met296Ile)
c.1428G>C (p.Met476Ile)
c.1047G>C (p.Met349Ile)
c.534G>C (p.Met178Ile)
n.38004C>G
11g.2661995G=CA1948247647KCNQ1,KCNQ1OT1c.1071G= (p.Met357=)
c.888G= (p.Met296=)
c.1428G= (p.Met476=)
c.1047G= (p.Met349=)
c.534G= (p.Met178=)
n.38004C=
11g.2661995G>TCA379479478KCNQ1,KCNQ1OT1c.1071G>T (p.Met357Ile)
c.888G>T (p.Met296Ile)
c.1428G>T (p.Met476Ile)
c.1047G>T (p.Met349Ile)
c.534G>T (p.Met178Ile)
n.38004C>A
 COSMIC
11g.2661996C>ACA379479480KCNQ1,KCNQ1OT1c.1072C>A (p.Pro358Thr)
c.889C>A (p.Pro297Thr)
c.1429C>A (p.Pro477Thr)
c.1048C>A (p.Pro350Thr)
c.535C>A (p.Pro179Thr)
n.38003G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2661996C=CA1948247650KCNQ1,KCNQ1OT1c.1072C= (p.Pro358=)
c.889C= (p.Pro297=)
c.1429C= (p.Pro477=)
c.1048C= (p.Pro350=)
c.535C= (p.Pro179=)
n.38003G=
11g.2661996C>GCA379479482KCNQ1,KCNQ1OT1c.1072C>G (p.Pro358Ala)
c.889C>G (p.Pro297Ala)
c.1429C>G (p.Pro477Ala)
c.1048C>G (p.Pro350Ala)
c.535C>G (p.Pro179Ala)
n.38003G>C
11g.2661996C>TCA379479483KCNQ1,KCNQ1OT1c.1072C>T (p.Pro358Ser)
c.889C>T (p.Pro297Ser)
c.1429C>T (p.Pro477Ser)
c.1048C>T (p.Pro350Ser)
c.535C>T (p.Pro179Ser)
n.38003G>A
 ClinVar dbSNP gnomAD v4
11g.2661997C>ACA379479487KCNQ1,KCNQ1OT1c.1073C>A (p.Pro358His)
c.890C>A (p.Pro297His)
c.1430C>A (p.Pro477His)
c.1049C>A (p.Pro350His)
c.536C>A (p.Pro179His)
n.38002G>T
11g.2661997C=CA1948247658KCNQ1,KCNQ1OT1c.1073C= (p.Pro358=)
c.890C= (p.Pro297=)
c.1430C= (p.Pro477=)
c.1049C= (p.Pro350=)
c.536C= (p.Pro179=)
n.38002G=
11g.2661997C>GCA379479488KCNQ1,KCNQ1OT1c.1073C>G (p.Pro358Arg)
c.890C>G (p.Pro297Arg)
c.1430C>G (p.Pro477Arg)
c.1049C>G (p.Pro350Arg)
c.536C>G (p.Pro179Arg)
n.38002G>C
11g.2661997C>TCA005760KCNQ1,KCNQ1OT1c.1073C>T (p.Pro358Leu)
c.890C>T (p.Pro297Leu)
c.1430C>T (p.Pro477Leu)
c.1049C>T (p.Pro350Leu)
c.536C>T (p.Pro179Leu)
n.38002G>A
 ClinVar dbSNP
11g.2661998C>ACA472236283KCNQ1,KCNQ1OT1c.1074C>A (p.Pro358=)
c.891C>A (p.Pro297=)
c.1431C>A (p.Pro477=)
c.1050C>A (p.Pro350=)
c.537C>A (p.Pro179=)
n.38001G>T
11g.2661998C=CA1948247666KCNQ1,KCNQ1OT1c.1074C= (p.Pro358=)
c.891C= (p.Pro297=)
c.1431C= (p.Pro477=)
c.1050C= (p.Pro350=)
c.537C= (p.Pro179=)
n.38001G=
11g.2661998C>GCA472236284KCNQ1,KCNQ1OT1c.1074C>G (p.Pro358=)
c.891C>G (p.Pro297=)
c.1431C>G (p.Pro477=)
c.1050C>G (p.Pro350=)
c.537C>G (p.Pro179=)
n.38001G>C
 ClinVar
11g.2661998C>TCA029920KCNQ1,KCNQ1OT1c.1074C>T (p.Pro358=)
c.891C>T (p.Pro297=)
c.1431C>T (p.Pro477=)
c.1050C>T (p.Pro350=)
c.537C>T (p.Pro179=)
n.38001G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2661999C>ACA379479493KCNQ1,KCNQ1OT1c.1075C>A (p.His359Asn)
c.892C>A (p.His298Asn)
c.1432C>A (p.His478Asn)
c.1051C>A (p.His351Asn)
c.538C>A (p.His180Asn)
n.38000G>T
 ClinVar
11g.2661999C=CA1948247672KCNQ1,KCNQ1OT1c.1075C= (p.His359=)
c.892C= (p.His298=)
c.1432C= (p.His478=)
c.1051C= (p.His351=)
c.538C= (p.His180=)
n.38000G=
11g.2661999C>GCA379479494KCNQ1,KCNQ1OT1c.1075C>G (p.His359Asp)
c.892C>G (p.His298Asp)
c.1432C>G (p.His478Asp)
c.1051C>G (p.His351Asp)
c.538C>G (p.His180Asp)
n.38000G>C
11g.2661999C>TCA379479495KCNQ1,KCNQ1OT1c.1075C>T (p.His359Tyr)
c.892C>T (p.His298Tyr)
c.1432C>T (p.His478Tyr)
c.1051C>T (p.His351Tyr)
c.538C>T (p.His180Tyr)
n.38000G>A
 dbSNP gnomAD v2 COSMIC
11g.2662000A>CCA379479498KCNQ1,KCNQ1OT1c.1076A>C (p.His359Pro)
c.893A>C (p.His298Pro)
c.1433A>C (p.His478Pro)
c.1052A>C (p.His351Pro)
c.539A>C (p.His180Pro)
n.37999T>G
11g.2662000A>GCA379479503KCNQ1,KCNQ1OT1c.1076A>G (p.His359Arg)
c.893A>G (p.His298Arg)
c.1433A>G (p.His478Arg)
c.1052A>G (p.His351Arg)
c.539A>G (p.His180Arg)
n.37999T>C
11g.2662000A>TCA379479502KCNQ1,KCNQ1OT1c.1076A>T (p.His359Leu)
c.893A>T (p.His298Leu)
c.1433A>T (p.His478Leu)
c.1052A>T (p.His351Leu)
c.539A>T (p.His180Leu)
n.37999T>A
11g.2662001T>ACA379479505KCNQ1,KCNQ1OT1c.1077T>A (p.His359Gln)
c.894T>A (p.His298Gln)
c.1434T>A (p.His478Gln)
c.1053T>A (p.His351Gln)
c.540T>A (p.His180Gln)
n.37998A>T
11g.2662001T>CCA472236286KCNQ1,KCNQ1OT1c.1077T>C (p.His359=)
c.894T>C (p.His298=)
c.1434T>C (p.His478=)
c.1053T>C (p.His351=)
c.540T>C (p.His180=)
n.37998A>G
 gnomAD v4
11g.2662001T>GCA379479507KCNQ1,KCNQ1OT1c.1077T>G (p.His359Gln)
c.894T>G (p.His298Gln)
c.1434T>G (p.His478Gln)
c.1053T>G (p.His351Gln)
c.540T>G (p.His180Gln)
n.37998A>C
11g.2662002T>ACA379479509KCNQ1,KCNQ1OT1c.1078T>A (p.Phe360Ile)
c.895T>A (p.Phe299Ile)
c.1435T>A (p.Phe479Ile)
c.1054T>A (p.Phe352Ile)
c.541T>A (p.Phe181Ile)
n.37997A>T
11g.2662002T>CCA379479510KCNQ1,KCNQ1OT1c.1078T>C (p.Phe360Leu)
c.895T>C (p.Phe299Leu)
c.1435T>C (p.Phe479Leu)
c.1054T>C (p.Phe352Leu)
c.541T>C (p.Phe181Leu)
n.37997A>G
 gnomAD v4
11g.2662002T>GCA379479511KCNQ1,KCNQ1OT1c.1078T>G (p.Phe360Val)
c.895T>G (p.Phe299Val)
c.1435T>G (p.Phe479Val)
c.1054T>G (p.Phe352Val)
c.541T>G (p.Phe181Val)
n.37997A>C
11g.2662003T>ACA379479513KCNQ1,KCNQ1OT1c.1079T>A (p.Phe360Tyr)
c.896T>A (p.Phe299Tyr)
c.1436T>A (p.Phe479Tyr)
c.1055T>A (p.Phe352Tyr)
c.542T>A (p.Phe181Tyr)
n.37996A>T
 ClinVar dbSNP
11g.2662003T>CCA379479515KCNQ1,KCNQ1OT1c.1079T>C (p.Phe360Ser)
c.896T>C (p.Phe299Ser)
c.1436T>C (p.Phe479Ser)
c.1055T>C (p.Phe352Ser)
c.542T>C (p.Phe181Ser)
n.37996A>G
11g.2662003T>GCA379479517KCNQ1,KCNQ1OT1c.1079T>G (p.Phe360Cys)
c.896T>G (p.Phe299Cys)
c.1436T>G (p.Phe479Cys)
c.1055T>G (p.Phe352Cys)
c.542T>G (p.Phe181Cys)
n.37996A>C
11g.2662003T=CA1948247677KCNQ1,KCNQ1OT1c.1079T= (p.Phe360=)
c.896T= (p.Phe299=)
c.1436T= (p.Phe479=)
c.1055T= (p.Phe352=)
c.542T= (p.Phe181=)
n.37996A=
11g.2662004C>ACA379479520KCNQ1,KCNQ1OT1c.1080C>A (p.Phe360Leu)
c.897C>A (p.Phe299Leu)
c.1437C>A (p.Phe479Leu)
c.1056C>A (p.Phe352Leu)
c.543C>A (p.Phe181Leu)
n.37995G>T
 ClinVar dbSNP gnomAD v4
11g.2662004C=CA1948247683KCNQ1,KCNQ1OT1c.1080C= (p.Phe360=)
c.897C= (p.Phe299=)
c.1437C= (p.Phe479=)
c.1056C= (p.Phe352=)
c.543C= (p.Phe181=)
n.37995G=
11g.2662004C>GCA379479521KCNQ1,KCNQ1OT1c.1080C>G (p.Phe360Leu)
c.897C>G (p.Phe299Leu)
c.1437C>G (p.Phe479Leu)
c.1056C>G (p.Phe352Leu)
c.543C>G (p.Phe181Leu)
n.37995G>C
 ClinVar
11g.2662004C>TCA472236288KCNQ1,KCNQ1OT1c.1080C>T (p.Phe360=)
c.897C>T (p.Phe299=)
c.1437C>T (p.Phe479=)
c.1056C>T (p.Phe352=)
c.543C>T (p.Phe181=)
n.37995G>A
 gnomAD v4
11g.2662005A>CCA379479526KCNQ1,KCNQ1OT1c.1081A>C (p.Met361Leu)
c.898A>C (p.Met300Leu)
c.1438A>C (p.Met480Leu)
c.1057A>C (p.Met353Leu)
c.544A>C (p.Met182Leu)
n.37994T>G
11g.2662005A>GCA379479528KCNQ1,KCNQ1OT1c.1081A>G (p.Met361Val)
c.898A>G (p.Met300Val)
c.1438A>G (p.Met480Val)
c.1057A>G (p.Met353Val)
c.544A>G (p.Met182Val)
n.37994T>C
 gnomAD v4
11g.2662005A>TCA379479524KCNQ1,KCNQ1OT1c.1081A>T (p.Met361Leu)
c.898A>T (p.Met300Leu)
c.1438A>T (p.Met480Leu)
c.1057A>T (p.Met353Leu)
c.544A>T (p.Met182Leu)
n.37994T>A
11g.2662006T>ACA379479536KCNQ1,KCNQ1OT1c.1082T>A (p.Met361Lys)
c.899T>A (p.Met300Lys)
c.1439T>A (p.Met480Lys)
c.1058T>A (p.Met353Lys)
c.545T>A (p.Met182Lys)
n.37993A>T
11g.2662006T>CCA216170771KCNQ1,KCNQ1OT1c.1082T>C (p.Met361Thr)
c.899T>C (p.Met300Thr)
c.1439T>C (p.Met480Thr)
c.1058T>C (p.Met353Thr)
c.545T>C (p.Met182Thr)
n.37993A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2662006T>GCA379479534KCNQ1,KCNQ1OT1c.1082T>G (p.Met361Arg)
c.899T>G (p.Met300Arg)
c.1439T>G (p.Met480Arg)
c.1058T>G (p.Met353Arg)
c.545T>G (p.Met182Arg)
n.37993A>C
 dbSNP gnomAD v4
11g.2662006T=CA1948247689KCNQ1,KCNQ1OT1c.1082T= (p.Met361=)
c.899T= (p.Met300=)
c.1439T= (p.Met480=)
c.1058T= (p.Met353=)
c.545T= (p.Met182=)
n.37993A=
11g.2662007G>ACA379479539KCNQ1,KCNQ1OT1c.1083G>A (p.Met361Ile)
c.900G>A (p.Met300Ile)
c.1440G>A (p.Met480Ile)
c.1059G>A (p.Met353Ile)
c.546G>A (p.Met182Ile)
n.37992C>T
 dbSNP gnomAD v4 COSMIC COSMIC
11g.2662007G>CCA379479540KCNQ1,KCNQ1OT1c.1083G>C (p.Met361Ile)
c.900G>C (p.Met300Ile)
c.1440G>C (p.Met480Ile)
c.1059G>C (p.Met353Ile)
c.546G>C (p.Met182Ile)
n.37992C>G
11g.2662007G=CA1948247698KCNQ1,KCNQ1OT1c.1083G= (p.Met361=)
c.900G= (p.Met300=)
c.1440G= (p.Met480=)
c.1059G= (p.Met353=)
c.546G= (p.Met182=)
n.37992C=
11g.2662007G>TCA379479542KCNQ1,KCNQ1OT1c.1083G>T (p.Met361Ile)
c.900G>T (p.Met300Ile)
c.1440G>T (p.Met480Ile)
c.1059G>T (p.Met353Ile)
c.546G>T (p.Met182Ile)
n.37992C>A
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.2662008A>CCA472236289KCNQ1,KCNQ1OT1c.1084A>C (p.Arg362=)
c.901A>C (p.Arg301=)
c.1441A>C (p.Arg481=)
c.1060A>C (p.Arg354=)
c.547A>C (p.Arg183=)
n.37991T>G
11g.2662008A>GCA379479543KCNQ1,KCNQ1OT1c.1084A>G (p.Arg362Gly)
c.901A>G (p.Arg301Gly)
c.1441A>G (p.Arg481Gly)
c.1060A>G (p.Arg354Gly)
c.547A>G (p.Arg183Gly)
n.37991T>C
11g.2662008A>TCA379479545KCNQ1,KCNQ1OT1c.1084A>T (p.Arg362Ter)
c.901A>T (p.Arg301Ter)
c.1441A>T (p.Arg481Ter)
c.1060A>T (p.Arg354Ter)
c.547A>T (p.Arg183Ter)
n.37991T>A
11g.2662009G>ACA379479546KCNQ1,KCNQ1OT1c.1085G>A (p.Arg362Lys)
c.902G>A (p.Arg301Lys)
c.1442G>A (p.Arg481Lys)
c.1061G>A (p.Arg354Lys)
c.548G>A (p.Arg183Lys)
n.37990C>T
 ClinVar dbSNP
11g.2662009G>CCA379479548KCNQ1,KCNQ1OT1c.1085G>C (p.Arg362Thr)
c.902G>C (p.Arg301Thr)
c.1442G>C (p.Arg481Thr)
c.1061G>C (p.Arg354Thr)
c.548G>C (p.Arg183Thr)
n.37990C>G
 dbSNP
11g.2662009G=CA1948247704KCNQ1,KCNQ1OT1c.1085G= (p.Arg362=)
c.902G= (p.Arg301=)
c.1442G= (p.Arg481=)
c.1061G= (p.Arg354=)
c.548G= (p.Arg183=)
n.37990C=
11g.2662009G>TCA379479550KCNQ1,KCNQ1OT1c.1085G>T (p.Arg362Ile)
c.902G>T (p.Arg301Ile)
c.1442G>T (p.Arg481Ile)
c.1061G>T (p.Arg354Ile)
c.548G>T (p.Arg183Ile)
n.37990C>A
11g.2662010A=CA1948247710KCNQ1,KCNQ1OT1c.1086A= (p.Arg362=)
c.903A= (p.Arg301=)
c.1443A= (p.Arg481=)
c.1062A= (p.Arg354=)
c.549A= (p.Arg183=)
n.37989T=
11g.2662010A>CCA379479552KCNQ1,KCNQ1OT1c.1086A>C (p.Arg362Ser)
c.903A>C (p.Arg301Ser)
c.1443A>C (p.Arg481Ser)
c.1062A>C (p.Arg354Ser)
c.549A>C (p.Arg183Ser)
n.37989T>G
11g.2662010A>GCA472236290KCNQ1,KCNQ1OT1c.1086A>G (p.Arg362=)
c.903A>G (p.Arg301=)
c.1443A>G (p.Arg481=)
c.1062A>G (p.Arg354=)
c.549A>G (p.Arg183=)
n.37989T>C
 ClinVar dbSNP
11g.2662010A>TCA379479553KCNQ1,KCNQ1OT1c.1086A>T (p.Arg362Ser)
c.903A>T (p.Arg301Ser)
c.1443A>T (p.Arg481Ser)
c.1062A>T (p.Arg354Ser)
c.549A>T (p.Arg183Ser)
n.37989T>A
 gnomAD v4
11g.2662011A=CA1948247725KCNQ1,KCNQ1OT1c.1087A= (p.Thr363=)
c.904A= (p.Thr302=)
c.1444A= (p.Thr482=)
c.1063A= (p.Thr355=)
c.550A= (p.Thr184=)
n.37988T=
11g.2662011A>CCA379479556KCNQ1,KCNQ1OT1c.1087A>C (p.Thr363Pro)
c.904A>C (p.Thr302Pro)
c.1444A>C (p.Thr482Pro)
c.1063A>C (p.Thr355Pro)
c.550A>C (p.Thr184Pro)
n.37988T>G
11g.2662011A>GCA379479555KCNQ1,KCNQ1OT1c.1087A>G (p.Thr363Ala)
c.904A>G (p.Thr302Ala)
c.1444A>G (p.Thr482Ala)
c.1063A>G (p.Thr355Ala)
c.550A>G (p.Thr184Ala)
n.37988T>C
 dbSNP gnomAD v2 gnomAD v4
11g.2662011A>TCA379479554KCNQ1,KCNQ1OT1c.1087A>T (p.Thr363Ser)
c.904A>T (p.Thr302Ser)
c.1444A>T (p.Thr482Ser)
c.1063A>T (p.Thr355Ser)
c.550A>T (p.Thr184Ser)
n.37988T>A
11g.2662011_2662012delinsACCA1948247724KCNQ1,KCNQ1OT1c.1087_1088delinsAC (p.Thr363=)
c.904_905delinsAC (p.Thr302=)
c.1444_1445delinsAC (p.Thr482=)
c.1063_1064delinsAC (p.Thr355=)
c.550_551delinsAC (p.Thr184=)
n.37987_37988delinsGT
11g.2662012C>ACA029931KCNQ1,KCNQ1OT1c.1088C>A (p.Thr363Asn)
c.905C>A (p.Thr302Asn)
c.1445C>A (p.Thr482Asn)
c.1064C>A (p.Thr355Asn)
c.551C>A (p.Thr184Asn)
n.37987G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2662012C=CA1948247730KCNQ1,KCNQ1OT1c.1088C= (p.Thr363=)
c.905C= (p.Thr302=)
c.1445C= (p.Thr482=)
c.1064C= (p.Thr355=)
c.551C= (p.Thr184=)
n.37987G=
11g.2662012C>GCA379479558KCNQ1,KCNQ1OT1c.1088C>G (p.Thr363Ser)
c.905C>G (p.Thr302Ser)
c.1445C>G (p.Thr482Ser)
c.1064C>G (p.Thr355Ser)
c.551C>G (p.Thr184Ser)
n.37987G>C
 dbSNP gnomAD v2
11g.2662012C>TCA379479561KCNQ1,KCNQ1OT1c.1088C>T (p.Thr363Ile)
c.905C>T (p.Thr302Ile)
c.1445C>T (p.Thr482Ile)
c.1064C>T (p.Thr355Ile)
c.551C>T (p.Thr184Ile)
n.37987G>A
 dbSNP
11g.2662013delCA005767KCNQ1,KCNQ1OT1c.1089del (p.Asn364ThrfsTer15)
c.906del (p.Asn303ThrfsTer15)
c.1446del (p.Asn483ThrfsTer15)
c.1065del (p.Asn356ThrfsTer15)
c.552del (p.Asn185ThrfsTer15)
n.37987del
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2662013C>ACA472236292KCNQ1,KCNQ1OT1c.1089C>A (p.Thr363=)
c.906C>A (p.Thr302=)
c.1446C>A (p.Thr482=)
c.1065C>A (p.Thr355=)
c.552C>A (p.Thr184=)
n.37986G>T
 dbSNP gnomAD v4
11g.2662013C=CA1948247734KCNQ1,KCNQ1OT1c.1089C= (p.Thr363=)
c.906C= (p.Thr302=)
c.1446C= (p.Thr482=)
c.1065C= (p.Thr355=)
c.552C= (p.Thr184=)
n.37986G=
11g.2662013C>GCA472236291KCNQ1,KCNQ1OT1c.1089C>G (p.Thr363=)
c.906C>G (p.Thr302=)
c.1446C>G (p.Thr482=)
c.1065C>G (p.Thr355=)
c.552C>G (p.Thr184=)
n.37986G>C
11g.2662013C>TCA16613532KCNQ1,KCNQ1OT1c.1089C>T (p.Thr363=)
c.906C>T (p.Thr302=)
c.1446C>T (p.Thr482=)
c.1065C>T (p.Thr355=)
c.552C>T (p.Thr184=)
n.37986G>A
 ClinVar dbSNP gnomAD v4
11g.2662014A>CCA379479562KCNQ1,KCNQ1OT1c.1090A>C (p.Asn364His)
c.907A>C (p.Asn303His)
c.1447A>C (p.Asn483His)
c.1066A>C (p.Asn356His)
c.553A>C (p.Asn185His)
n.37985T>G
11g.2662014A>GCA379479563KCNQ1,KCNQ1OT1c.1090A>G (p.Asn364Asp)
c.907A>G (p.Asn303Asp)
c.1447A>G (p.Asn483Asp)
c.1066A>G (p.Asn356Asp)
c.553A>G (p.Asn185Asp)
n.37985T>C
11g.2662014A>TCA379479564KCNQ1,KCNQ1OT1c.1090A>T (p.Asn364Tyr)
c.907A>T (p.Asn303Tyr)
c.1447A>T (p.Asn483Tyr)
c.1066A>T (p.Asn356Tyr)
c.553A>T (p.Asn185Tyr)
n.37985T>A
11g.2662015A=CA1948247736KCNQ1,KCNQ1OT1c.1091A= (p.Asn364=)
c.908A= (p.Asn303=)
c.1448A= (p.Asn483=)
c.1067A= (p.Asn356=)
c.554A= (p.Asn185=)
n.37984T=
11g.2662015A>CCA379479565KCNQ1,KCNQ1OT1c.1091A>C (p.Asn364Thr)
c.908A>C (p.Asn303Thr)
c.1448A>C (p.Asn483Thr)
c.1067A>C (p.Asn356Thr)
c.554A>C (p.Asn185Thr)
n.37984T>G
11g.2662015A>GCA216170778KCNQ1,KCNQ1OT1c.1091A>G (p.Asn364Ser)
c.908A>G (p.Asn303Ser)
c.1448A>G (p.Asn483Ser)
c.1067A>G (p.Asn356Ser)
c.554A>G (p.Asn185Ser)
n.37984T>C
 ClinVar dbSNP gnomAD v4
11g.2662015A>TCA379479569KCNQ1,KCNQ1OT1c.1091A>T (p.Asn364Ile)
c.908A>T (p.Asn303Ile)
c.1448A>T (p.Asn483Ile)
c.1067A>T (p.Asn356Ile)
c.554A>T (p.Asn185Ile)
n.37984T>A
11g.2662016C>ACA379479571KCNQ1,KCNQ1OT1c.1092C>A (p.Asn364Lys)
c.909C>A (p.Asn303Lys)
c.1449C>A (p.Asn483Lys)
c.1068C>A (p.Asn356Lys)
c.555C>A (p.Asn185Lys)
n.37983G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2662016C=CA1948247740KCNQ1,KCNQ1OT1c.1092C= (p.Asn364=)
c.909C= (p.Asn303=)
c.1449C= (p.Asn483=)
c.1068C= (p.Asn356=)
c.555C= (p.Asn185=)
n.37983G=
11g.2662016C>GCA379479573KCNQ1,KCNQ1OT1c.1092C>G (p.Asn364Lys)
c.909C>G (p.Asn303Lys)
c.1449C>G (p.Asn483Lys)
c.1068C>G (p.Asn356Lys)
c.555C>G (p.Asn185Lys)
n.37983G>C
11g.2662016C>TCA472236293KCNQ1,KCNQ1OT1c.1092C>T (p.Asn364=)
c.909C>T (p.Asn303=)
c.1449C>T (p.Asn483=)
c.1068C>T (p.Asn356=)
c.555C>T (p.Asn185=)
n.37983G>A
 ClinVar dbSNP gnomAD v4
11g.2662017A>CCA379479578KCNQ1,KCNQ1OT1c.1093A>C (p.Ser365Arg)
c.910A>C (p.Ser304Arg)
c.1450A>C (p.Ser484Arg)
c.1069A>C (p.Ser357Arg)
c.556A>C (p.Ser186Arg)
n.37982T>G
11g.2662017A>GCA379479576KCNQ1,KCNQ1OT1c.1093A>G (p.Ser365Gly)
c.910A>G (p.Ser304Gly)
c.1450A>G (p.Ser484Gly)
c.1069A>G (p.Ser357Gly)
c.556A>G (p.Ser186Gly)
n.37982T>C
11g.2662017A>TCA379479575KCNQ1,KCNQ1OT1c.1093A>T (p.Ser365Cys)
c.910A>T (p.Ser304Cys)
c.1450A>T (p.Ser484Cys)
c.1069A>T (p.Ser357Cys)
c.556A>T (p.Ser186Cys)
n.37982T>A
11g.2662018G>ACA379479580KCNQ1,KCNQ1OT1c.1094G>A (p.Ser365Asn)
c.911G>A (p.Ser304Asn)
c.1451G>A (p.Ser484Asn)
c.1070G>A (p.Ser357Asn)
c.557G>A (p.Ser186Asn)
n.37981C>T
 COSMIC COSMIC
11g.2662018G>CCA005774KCNQ1,KCNQ1OT1c.1094G>C (p.Ser365Thr)
c.911G>C (p.Ser304Thr)
c.1451G>C (p.Ser484Thr)
c.1070G>C (p.Ser357Thr)
c.557G>C (p.Ser186Thr)
n.37981C>G
 ClinVar dbSNP gnomAD v4
11g.2662018G=CA1948247744KCNQ1,KCNQ1OT1c.1094G= (p.Ser365=)
c.911G= (p.Ser304=)
c.1451G= (p.Ser484=)
c.1070G= (p.Ser357=)
c.557G= (p.Ser186=)
n.37981C=
11g.2662018G>TCA379479584KCNQ1,KCNQ1OT1c.1094G>T (p.Ser365Ile)
c.911G>T (p.Ser304Ile)
c.1451G>T (p.Ser484Ile)
c.1070G>T (p.Ser357Ile)
c.557G>T (p.Ser186Ile)
n.37981C>A
11g.2662019C>ACA379479585KCNQ1,KCNQ1OT1c.1095C>A (p.Ser365Arg)
c.912C>A (p.Ser304Arg)
c.1452C>A (p.Ser484Arg)
c.1071C>A (p.Ser357Arg)
c.558C>A (p.Ser186Arg)
n.37980G>T
11g.2662019C>GCA379479586KCNQ1,KCNQ1OT1c.1095C>G (p.Ser365Arg)
c.912C>G (p.Ser304Arg)
c.1452C>G (p.Ser484Arg)
c.1071C>G (p.Ser357Arg)
c.558C>G (p.Ser186Arg)
n.37980G>C
11g.2662019C>TCA472236294KCNQ1,KCNQ1OT1c.1095C>T (p.Ser365=)
c.912C>T (p.Ser304=)
c.1452C>T (p.Ser484=)
c.1071C>T (p.Ser357=)
c.558C>T (p.Ser186=)
n.37980G>A
 gnomAD v4
11g.2662020T>ACA379479590KCNQ1,KCNQ1OT1c.1096T>A (p.Phe366Ile)
c.913T>A (p.Phe305Ile)
c.1453T>A (p.Phe485Ile)
c.1072T>A (p.Phe358Ile)
c.559T>A (p.Phe187Ile)
n.37979A>T
11g.2662020T>CCA379479588KCNQ1,KCNQ1OT1c.1096T>C (p.Phe366Leu)
c.913T>C (p.Phe305Leu)
c.1453T>C (p.Phe485Leu)
c.1072T>C (p.Phe358Leu)
c.559T>C (p.Phe187Leu)
n.37979A>G
11g.2662020T>GCA379479587KCNQ1,KCNQ1OT1c.1096T>G (p.Phe366Val)
c.913T>G (p.Phe305Val)
c.1453T>G (p.Phe485Val)
c.1072T>G (p.Phe358Val)
c.559T>G (p.Phe187Val)
n.37979A>C
11g.2662021T>ACA379479592KCNQ1,KCNQ1OT1c.1097T>A (p.Phe366Tyr)
c.914T>A (p.Phe305Tyr)
c.1454T>A (p.Phe485Tyr)
c.1073T>A (p.Phe358Tyr)
c.560T>A (p.Phe187Tyr)
n.37978A>T
11g.2662021T>CCA379479594KCNQ1,KCNQ1OT1c.1097T>C (p.Phe366Ser)
c.914T>C (p.Phe305Ser)
c.1454T>C (p.Phe485Ser)
c.1073T>C (p.Phe358Ser)
c.560T>C (p.Phe187Ser)
n.37978A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2662021T>GCA379479595KCNQ1,KCNQ1OT1c.1097T>G (p.Phe366Cys)
c.914T>G (p.Phe305Cys)
c.1454T>G (p.Phe485Cys)
c.1073T>G (p.Phe358Cys)
c.560T>G (p.Phe187Cys)
n.37978A>C
11g.2662021T=CA1948247750KCNQ1,KCNQ1OT1c.1097T= (p.Phe366=)
c.914T= (p.Phe305=)
c.1454T= (p.Phe485=)
c.1073T= (p.Phe358=)
c.560T= (p.Phe187=)
n.37978A=
11g.2662022C>ACA379479597KCNQ1,KCNQ1OT1c.1098C>A (p.Phe366Leu)
c.915C>A (p.Phe305Leu)
c.1455C>A (p.Phe485Leu)
c.1074C>A (p.Phe358Leu)
c.561C>A (p.Phe187Leu)
n.37977G>T
11g.2662022C=CA1948247760KCNQ1,KCNQ1OT1c.1098C= (p.Phe366=)
c.915C= (p.Phe305=)
c.1455C= (p.Phe485=)
c.1074C= (p.Phe358=)
c.561C= (p.Phe187=)
n.37977G=
11g.2662022C>GCA379479599KCNQ1,KCNQ1OT1c.1098C>G (p.Phe366Leu)
c.915C>G (p.Phe305Leu)
c.1455C>G (p.Phe485Leu)
c.1074C>G (p.Phe358Leu)
c.561C>G (p.Phe187Leu)
n.37977G>C
11g.2662022C>TCA005779KCNQ1,KCNQ1OT1c.1098C>T (p.Phe366=)
c.915C>T (p.Phe305=)
c.1455C>T (p.Phe485=)
c.1074C>T (p.Phe358=)
c.561C>T (p.Phe187=)
n.37977G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2662023G>ACA029975KCNQ1,KCNQ1OT1c.1099G>A (p.Ala367Thr)
c.916G>A (p.Ala306Thr)
c.1456G>A (p.Ala486Thr)
c.1075G>A (p.Ala359Thr)
c.562G>A (p.Ala188Thr)
n.37976C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2662023G>CCA349428KCNQ1,KCNQ1OT1c.1099G>C (p.Ala367Pro)
c.916G>C (p.Ala306Pro)
c.1456G>C (p.Ala486Pro)
c.1075G>C (p.Ala359Pro)
c.562G>C (p.Ala188Pro)
n.37976C>G
 ClinVar dbSNP
11g.2662023G=CA1948247774KCNQ1,KCNQ1OT1c.1099G= (p.Ala367=)
c.916G= (p.Ala306=)
c.1456G= (p.Ala486=)
c.1075G= (p.Ala359=)
c.562G= (p.Ala188=)
n.37976C=
11g.2662023G>TCA379479603KCNQ1,KCNQ1OT1c.1099G>T (p.Ala367Ser)
c.916G>T (p.Ala306Ser)
c.1456G>T (p.Ala486Ser)
c.1075G>T (p.Ala359Ser)
c.562G>T (p.Ala188Ser)
n.37976C>A
11g.2662024C>ACA379479606KCNQ1,KCNQ1OT1c.1100C>A (p.Ala367Asp)
c.917C>A (p.Ala306Asp)
c.1457C>A (p.Ala486Asp)
c.1076C>A (p.Ala359Asp)
c.563C>A (p.Ala188Asp)
n.37975G>T
11g.2662024C>GCA379479609KCNQ1,KCNQ1OT1c.1100C>G (p.Ala367Gly)
c.917C>G (p.Ala306Gly)
c.1457C>G (p.Ala486Gly)
c.1076C>G (p.Ala359Gly)
c.563C>G (p.Ala188Gly)
n.37975G>C
11g.2662024C>TCA379479611KCNQ1,KCNQ1OT1c.1100C>T (p.Ala367Val)
c.917C>T (p.Ala306Val)
c.1457C>T (p.Ala486Val)
c.1076C>T (p.Ala359Val)
c.563C>T (p.Ala188Val)
n.37975G>A
 ClinVar gnomAD v4
11g.2662025C>ACA472236295KCNQ1,KCNQ1OT1c.1101C>A (p.Ala367=)
c.918C>A (p.Ala306=)
c.1458C>A (p.Ala486=)
c.1077C>A (p.Ala359=)
c.564C>A (p.Ala188=)
n.37974G>T
11g.2662025C=CA1948247778KCNQ1,KCNQ1OT1c.1101C= (p.Ala367=)
c.918C= (p.Ala306=)
c.1458C= (p.Ala486=)
c.1077C= (p.Ala359=)
c.564C= (p.Ala188=)
n.37974G=
11g.2662025C>GCA472236296KCNQ1,KCNQ1OT1c.1101C>G (p.Ala367=)
c.918C>G (p.Ala306=)
c.1458C>G (p.Ala486=)
c.1077C>G (p.Ala359=)
c.564C>G (p.Ala188=)
n.37974G>C
11g.2662025C>TCA029993KCNQ1,KCNQ1OT1c.1101C>T (p.Ala367=)
c.918C>T (p.Ala306=)
c.1458C>T (p.Ala486=)
c.1077C>T (p.Ala359=)
c.564C>T (p.Ala188=)
n.37974G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2662026G>ACA379479615KCNQ1,KCNQ1OT1c.1102G>A (p.Glu368Lys)
c.919G>A (p.Glu307Lys)
c.1459G>A (p.Glu487Lys)
c.1078G>A (p.Glu360Lys)
c.565G>A (p.Glu189Lys)
n.37973C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2662026G>CCA379479617KCNQ1,KCNQ1OT1c.1102G>C (p.Glu368Gln)
c.919G>C (p.Glu307Gln)
c.1459G>C (p.Glu487Gln)
c.1078G>C (p.Glu360Gln)
c.565G>C (p.Glu189Gln)
n.37973C>G
11g.2662026G=CA1948247783KCNQ1,KCNQ1OT1c.1102G= (p.Glu368=)
c.919G= (p.Glu307=)
c.1459G= (p.Glu487=)
c.1078G= (p.Glu360=)
c.565G= (p.Glu189=)
n.37973C=
11g.2662026G>TCA379479619KCNQ1,KCNQ1OT1c.1102G>T (p.Glu368Ter)
c.919G>T (p.Glu307Ter)
c.1459G>T (p.Glu487Ter)
c.1078G>T (p.Glu360Ter)
c.565G>T (p.Glu189Ter)
n.37973C>A
 ClinVar
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
11g.2662040G>ACA472236305KCNQ1,KCNQ1OT1c.1116G>A (p.Leu372=)
c.933G>A (p.Leu311=)
c.1473G>A (p.Leu491=)
c.1092G>A (p.Leu364=)
c.579G>A (p.Leu193=)
n.37959C>T
11g.2662040G>CCA472236306KCNQ1,KCNQ1OT1c.1116G>C (p.Leu372=)
c.933G>C (p.Leu311=)
c.1473G>C (p.Leu491=)
c.1092G>C (p.Leu364=)
c.579G>C (p.Leu193=)
n.37959C>G
 COSMIC COSMIC
11g.2662040G>TCA472236307KCNQ1,KCNQ1OT1c.1116G>T (p.Leu372=)
c.933G>T (p.Leu311=)
c.1473G>T (p.Leu491=)
c.1092G>T (p.Leu364=)
c.579G>T (p.Leu193=)
n.37959C>A
11g.2662041G>ACA379479689KCNQ1,KCNQ1OT1c.1117G>A (p.Glu373Lys)
c.934G>A (p.Glu312Lys)
c.1474G>A (p.Glu492Lys)
c.1093G>A (p.Glu365Lys)
c.580G>A (p.Glu194Lys)
n.37958C>T
11g.2662041G>CCA379479690KCNQ1,KCNQ1OT1c.1117G>C (p.Glu373Gln)
c.934G>C (p.Glu312Gln)
c.1474G>C (p.Glu492Gln)
c.1093G>C (p.Glu365Gln)
c.580G>C (p.Glu194Gln)
n.37958C>G
11g.2662041G>TCA379479692KCNQ1,KCNQ1OT1c.1117G>T (p.Glu373Ter)
c.934G>T (p.Glu312Ter)
c.1474G>T (p.Glu492Ter)
c.1093G>T (p.Glu365Ter)
c.580G>T (p.Glu194Ter)
n.37958C>A
11g.2662042A>CCA379479694KCNQ1,KCNQ1OT1c.1118A>C (p.Glu373Ala)
c.935A>C (p.Glu312Ala)
c.1475A>C (p.Glu492Ala)
c.1094A>C (p.Glu365Ala)
c.581A>C (p.Glu194Ala)
n.37957T>G
11g.2662042A>GCA379479697KCNQ1,KCNQ1OT1c.1118A>G (p.Glu373Gly)
c.935A>G (p.Glu312Gly)
c.1475A>G (p.Glu492Gly)
c.1094A>G (p.Glu365Gly)
c.581A>G (p.Glu194Gly)
n.37957T>C
11g.2662042A>TCA379479698KCNQ1,KCNQ1OT1c.1118A>T (p.Glu373Val)
c.935A>T (p.Glu312Val)
c.1475A>T (p.Glu492Val)
c.1094A>T (p.Glu365Val)
c.581A>T (p.Glu194Val)
n.37957T>A
11g.2662043delCA2697558903KCNQ1,KCNQ1OT1c.1119del (p.Glu375ArgfsTer4)
c.936del (p.Glu314ArgfsTer4)
c.1476del (p.Glu494ArgfsTer4)
c.1095del (p.Glu367ArgfsTer4)
c.582del (p.Glu196ArgfsTer4)
n.37957del
 ClinVar
11g.2662043A=CA1948247823KCNQ1,KCNQ1OT1c.1119A= (p.Glu373=)
c.936A= (p.Glu312=)
c.1476A= (p.Glu492=)
c.1095A= (p.Glu365=)
c.582A= (p.Glu194=)
n.37956T=
11g.2662043A>CCA379479703KCNQ1,KCNQ1OT1c.1119A>C (p.Glu373Asp)
c.936A>C (p.Glu312Asp)
c.1476A>C (p.Glu492Asp)
c.1095A>C (p.Glu365Asp)
c.582A>C (p.Glu194Asp)
n.37956T>G
11g.2662043A>GCA005791KCNQ1,KCNQ1OT1c.1119A>G (p.Glu373=)
c.936A>G (p.Glu312=)
c.1476A>G (p.Glu492=)
c.1095A>G (p.Glu365=)
c.582A>G (p.Glu194=)
n.37956T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2662043A>TCA379479700KCNQ1,KCNQ1OT1c.1119A>T (p.Glu373Asp)
c.936A>T (p.Glu312Asp)
c.1476A>T (p.Glu492Asp)
c.1095A>T (p.Glu365Asp)
c.582A>T (p.Glu194Asp)
n.37956T>A
11g.2662044G>ACA379479708KCNQ1,KCNQ1OT1c.1120G>A (p.Gly374Arg)
c.937G>A (p.Gly313Arg)
c.1477G>A (p.Gly493Arg)
c.1096G>A (p.Gly366Arg)
c.583G>A (p.Gly195Arg)
n.37955C>T
11g.2662044G>CCA379479709KCNQ1,KCNQ1OT1c.1120G>C (p.Gly374Arg)
c.937G>C (p.Gly313Arg)
c.1477G>C (p.Gly493Arg)
c.1096G>C (p.Gly366Arg)
c.583G>C (p.Gly195Arg)
n.37955C>G
11g.2662044G>TCA379479711KCNQ1,KCNQ1OT1c.1120G>T (p.Gly374Trp)
c.937G>T (p.Gly313Trp)
c.1477G>T (p.Gly493Trp)
c.1096G>T (p.Gly366Trp)
c.583G>T (p.Gly195Trp)
n.37955C>A
11g.2662047dupCA10575753KCNQ1,KCNQ1OT1c.1123dup (p.Glu375GlyfsTer22)
c.940dup (p.Glu314GlyfsTer22)
c.1480dup (p.Glu494GlyfsTer22)
c.1099dup (p.Glu367GlyfsTer22)
c.586dup (p.Glu196GlyfsTer22)
n.37955dup
 ClinVar dbSNP

Number of alleles fetched