Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132174218T>ACA2688627198KCNQ3c.1044+21A>T (n.1044+21A>T)
c.684+21A>T (n.684+21A>T)
c.717+21A>T (n.717+21A>T)
c.694+21A>T
n.822+21A>T
c.681+21A>T (n.681+21A>T)
c.-113+21A>T (n.-113+21A>T)
c.336+21A>T (n.336+21A>T)
c.822+21A>T (n.822+21A>T)
gnomAD v4
8g.132174219C>GCA2688627199KCNQ3c.1044+20G>C (n.1044+20G>C)
c.684+20G>C (n.684+20G>C)
c.717+20G>C (n.717+20G>C)
c.694+20G>C
n.822+20G>C
c.681+20G>C (n.681+20G>C)
c.-113+20G>C (n.-113+20G>C)
c.336+20G>C (n.336+20G>C)
c.822+20G>C (n.822+20G>C)
gnomAD v4
8g.132174219C>TCA2579251671KCNQ3c.1044+20G>A (n.1044+20G>A)
c.684+20G>A (n.684+20G>A)
c.717+20G>A (n.717+20G>A)
c.694+20G>A
n.822+20G>A
c.681+20G>A (n.681+20G>A)
c.-113+20G>A (n.-113+20G>A)
c.336+20G>A (n.336+20G>A)
c.822+20G>A (n.822+20G>A)
gnomAD v4
8g.132174220A=CA1820664001KCNQ3c.1044+19T= (n.1044+19T=)
c.684+19T= (n.684+19T=)
c.717+19T= (n.717+19T=)
c.694+19T=
n.822+19T=
c.681+19T= (n.681+19T=)
c.-113+19T= (n.-113+19T=)
c.336+19T= (n.336+19T=)
c.822+19T= (n.822+19T=)
8g.132174220A>TCA847633816KCNQ3c.1044+19T>A (n.1044+19T>A)
c.684+19T>A (n.684+19T>A)
c.717+19T>A (n.717+19T>A)
c.694+19T>A
n.822+19T>A
c.681+19T>A (n.681+19T>A)
c.-113+19T>A (n.-113+19T>A)
c.336+19T>A (n.336+19T>A)
c.822+19T>A (n.822+19T>A)
dbSNP gnomAD v3 gnomAD v4
8g.132174220dupCA2782246783KCNQ3c.1044+19dup (n.1044+19dup)
c.684+19dup (n.684+19dup)
c.717+19dup (n.717+19dup)
c.694+19dup
n.822+19dup
c.681+19dup (n.681+19dup)
c.-113+19dup (n.-113+19dup)
c.336+19dup (n.336+19dup)
c.822+19dup (n.822+19dup)
8g.132174224_132174225delCA2579251672KCNQ3c.1044+18_1044+19del (n.1044+18_1044+19del)
c.684+18_684+19del (n.684+18_684+19del)
c.717+18_717+19del (n.717+18_717+19del)
c.694+18_694+19del
n.822+18_822+19del
c.681+18_681+19del (n.681+18_681+19del)
c.-113+18_-113+19del (n.-113+18_-113+19del)
c.336+18_336+19del (n.336+18_336+19del)
c.822+18_822+19del (n.822+18_822+19del)
8g.132174221T>CCA4880798KCNQ3c.1044+18A>G (n.1044+18A>G)
c.684+18A>G (n.684+18A>G)
c.717+18A>G (n.717+18A>G)
c.694+18A>G
n.822+18A>G
c.681+18A>G (n.681+18A>G)
c.-113+18A>G (n.-113+18A>G)
c.336+18A>G (n.336+18A>G)
c.822+18A>G (n.822+18A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132174221T>GCA2579251673KCNQ3c.1044+18A>C (n.1044+18A>C)
c.684+18A>C (n.684+18A>C)
c.717+18A>C (n.717+18A>C)
c.694+18A>C
n.822+18A>C
c.681+18A>C (n.681+18A>C)
c.-113+18A>C (n.-113+18A>C)
c.336+18A>C (n.336+18A>C)
c.822+18A>C (n.822+18A>C)
8g.132174221T=CA1820664002KCNQ3c.1044+18A= (n.1044+18A=)
c.684+18A= (n.684+18A=)
c.717+18A= (n.717+18A=)
c.694+18A=
n.822+18A=
c.681+18A= (n.681+18A=)
c.-113+18A= (n.-113+18A=)
c.336+18A= (n.336+18A=)
c.822+18A= (n.822+18A=)
8g.132174222A=CA1820664003KCNQ3c.1044+17T= (n.1044+17T=)
c.684+17T= (n.684+17T=)
c.717+17T= (n.717+17T=)
c.694+17T=
n.822+17T=
c.681+17T= (n.681+17T=)
c.-113+17T= (n.-113+17T=)
c.336+17T= (n.336+17T=)
c.822+17T= (n.822+17T=)
8g.132174222A>CCA2688627200KCNQ3c.1044+17T>G (n.1044+17T>G)
c.684+17T>G (n.684+17T>G)
c.717+17T>G (n.717+17T>G)
c.694+17T>G
n.822+17T>G
c.681+17T>G (n.681+17T>G)
c.-113+17T>G (n.-113+17T>G)
c.336+17T>G (n.336+17T>G)
c.822+17T>G (n.822+17T>G)
gnomAD v4
8g.132174222A>GCA2579251674KCNQ3c.1044+17T>C (n.1044+17T>C)
c.684+17T>C (n.684+17T>C)
c.717+17T>C (n.717+17T>C)
c.694+17T>C
n.822+17T>C
c.681+17T>C (n.681+17T>C)
c.-113+17T>C (n.-113+17T>C)
c.336+17T>C (n.336+17T>C)
c.822+17T>C (n.822+17T>C)
8g.132174222A>TCA186223370KCNQ3c.1044+17T>A (n.1044+17T>A)
c.684+17T>A (n.684+17T>A)
c.717+17T>A (n.717+17T>A)
c.694+17T>A
n.822+17T>A
c.681+17T>A (n.681+17T>A)
c.-113+17T>A (n.-113+17T>A)
c.336+17T>A (n.336+17T>A)
c.822+17T>A (n.822+17T>A)
dbSNP
8g.132174223T>CCA2688627201KCNQ3c.1044+16A>G (n.1044+16A>G)
c.684+16A>G (n.684+16A>G)
c.717+16A>G (n.717+16A>G)
c.694+16A>G
n.822+16A>G
c.681+16A>G (n.681+16A>G)
c.-113+16A>G (n.-113+16A>G)
c.336+16A>G (n.336+16A>G)
c.822+16A>G (n.822+16A>G)
gnomAD v4
8g.132174225T>ACA2688627202KCNQ3c.1044+14A>T (n.1044+14A>T)
c.684+14A>T (n.684+14A>T)
c.717+14A>T (n.717+14A>T)
c.694+14A>T
n.822+14A>T
c.681+14A>T (n.681+14A>T)
c.-113+14A>T (n.-113+14A>T)
c.336+14A>T (n.336+14A>T)
c.822+14A>T (n.822+14A>T)
gnomAD v4
8g.132174226C>ACA2688627203KCNQ3c.1044+13G>T (n.1044+13G>T)
c.684+13G>T (n.684+13G>T)
c.717+13G>T (n.717+13G>T)
c.694+13G>T
n.822+13G>T
c.681+13G>T (n.681+13G>T)
c.-113+13G>T (n.-113+13G>T)
c.336+13G>T (n.336+13G>T)
c.822+13G>T (n.822+13G>T)
gnomAD v4
8g.132174227A>GCA2697550167KCNQ3c.1044+12T>C (n.1044+12T>C)
c.684+12T>C (n.684+12T>C)
c.717+12T>C (n.717+12T>C)
c.694+12T>C
n.822+12T>C
c.681+12T>C (n.681+12T>C)
c.-113+12T>C (n.-113+12T>C)
c.336+12T>C (n.336+12T>C)
c.822+12T>C (n.822+12T>C)
ClinVar
8g.132174230G>ACA2579251675KCNQ3c.1044+9C>T (n.1044+9C>T)
c.684+9C>T (n.684+9C>T)
c.717+9C>T (n.717+9C>T)
c.694+9C>T
n.822+9C>T
c.681+9C>T (n.681+9C>T)
c.-113+9C>T (n.-113+9C>T)
c.336+9C>T (n.336+9C>T)
c.822+9C>T (n.822+9C>T)
ClinVar
8g.132174230G>TCA2688627204KCNQ3c.1044+9C>A (n.1044+9C>A)
c.684+9C>A (n.684+9C>A)
c.717+9C>A (n.717+9C>A)
c.694+9C>A
n.822+9C>A
c.681+9C>A (n.681+9C>A)
c.-113+9C>A (n.-113+9C>A)
c.336+9C>A (n.336+9C>A)
c.822+9C>A (n.822+9C>A)
gnomAD v4
8g.132174231G>ACA847633821KCNQ3c.1044+8C>T (n.1044+8C>T)
c.684+8C>T (n.684+8C>T)
c.717+8C>T (n.717+8C>T)
c.694+8C>T
n.822+8C>T
c.681+8C>T (n.681+8C>T)
c.-113+8C>T (n.-113+8C>T)
c.336+8C>T (n.336+8C>T)
c.822+8C>T (n.822+8C>T)
dbSNP gnomAD v4
8g.132174231G=CA1820664004KCNQ3c.1044+8C= (n.1044+8C=)
c.684+8C= (n.684+8C=)
c.717+8C= (n.717+8C=)
c.694+8C=
n.822+8C=
c.681+8C= (n.681+8C=)
c.-113+8C= (n.-113+8C=)
c.336+8C= (n.336+8C=)
c.822+8C= (n.822+8C=)
8g.132174231G>TCA2579251676KCNQ3c.1044+8C>A (n.1044+8C>A)
c.684+8C>A (n.684+8C>A)
c.717+8C>A (n.717+8C>A)
c.694+8C>A
n.822+8C>A
c.681+8C>A (n.681+8C>A)
c.-113+8C>A (n.-113+8C>A)
c.336+8C>A (n.336+8C>A)
c.822+8C>A (n.822+8C>A)
gnomAD v4
8g.132174232T>CCA585236096KCNQ3c.1044+7A>G (n.1044+7A>G)
c.684+7A>G (n.684+7A>G)
c.717+7A>G (n.717+7A>G)
c.694+7A>G
n.822+7A>G
c.681+7A>G (n.681+7A>G)
c.-113+7A>G (n.-113+7A>G)
c.336+7A>G (n.336+7A>G)
c.822+7A>G (n.822+7A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132174232T>GCA1820664006KCNQ3c.1044+7A>C (n.1044+7A>C)
c.684+7A>C (n.684+7A>C)
c.717+7A>C (n.717+7A>C)
c.694+7A>C
n.822+7A>C
c.681+7A>C (n.681+7A>C)
c.-113+7A>C (n.-113+7A>C)
c.336+7A>C (n.336+7A>C)
c.822+7A>C (n.822+7A>C)
dbSNP
8g.132174232T=CA1820664005KCNQ3c.1044+7A= (n.1044+7A=)
c.684+7A= (n.684+7A=)
c.717+7A= (n.717+7A=)
c.694+7A=
n.822+7A=
c.681+7A= (n.681+7A=)
c.-113+7A= (n.-113+7A=)
c.336+7A= (n.336+7A=)
c.822+7A= (n.822+7A=)
8g.132174233A=CA1820664007KCNQ3c.1044+6T= (n.1044+6T=)
c.684+6T= (n.684+6T=)
c.717+6T= (n.717+6T=)
c.694+6T=
n.822+6T=
c.681+6T= (n.681+6T=)
c.-113+6T= (n.-113+6T=)
c.336+6T= (n.336+6T=)
c.822+6T= (n.822+6T=)
8g.132174233A>GCA585236098KCNQ3c.1044+6T>C (n.1044+6T>C)
c.684+6T>C (n.684+6T>C)
c.717+6T>C (n.717+6T>C)
c.694+6T>C
n.822+6T>C
c.681+6T>C (n.681+6T>C)
c.-113+6T>C (n.-113+6T>C)
c.336+6T>C (n.336+6T>C)
c.822+6T>C (n.822+6T>C)
dbSNP gnomAD v2 gnomAD v4
8g.132174234C>ACA585236100KCNQ3c.1044+5G>T (n.1044+5G>T)
c.684+5G>T (n.684+5G>T)
c.717+5G>T (n.717+5G>T)
c.694+5G>T
n.822+5G>T
c.681+5G>T (n.681+5G>T)
c.-113+5G>T (n.-113+5G>T)
c.336+5G>T (n.336+5G>T)
c.822+5G>T (n.822+5G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132174234C=CA1820664008KCNQ3c.1044+5G= (n.1044+5G=)
c.684+5G= (n.684+5G=)
c.717+5G= (n.717+5G=)
c.694+5G=
n.822+5G=
c.681+5G= (n.681+5G=)
c.-113+5G= (n.-113+5G=)
c.336+5G= (n.336+5G=)
c.822+5G= (n.822+5G=)
8g.132174235T>ACA2688627206KCNQ3c.1044+4A>T (n.1044+4A>T)
c.684+4A>T (n.684+4A>T)
c.717+4A>T (n.717+4A>T)
c.694+4A>T
n.822+4A>T
c.681+4A>T (n.681+4A>T)
c.-113+4A>T (n.-113+4A>T)
c.336+4A>T (n.336+4A>T)
c.822+4A>T (n.822+4A>T)
gnomAD v4
8g.132174236delCA2688627205KCNQ3c.1044+4del (n.1044+4del)
c.684+4del (n.684+4del)
c.717+4del (n.717+4del)
c.694+4del
n.822+4del
c.681+4del (n.681+4del)
c.-113+4del (n.-113+4del)
c.336+4del (n.336+4del)
c.822+4del (n.822+4del)
gnomAD v4
8g.132174237A>CCA372290037KCNQ3c.1044+2T>G (n.1044+2T>G)
c.684+2T>G (n.684+2T>G)
c.717+2T>G (n.717+2T>G)
c.694+2T>G
n.822+2T>G
c.681+2T>G (n.681+2T>G)
c.-113+2T>G (n.-113+2T>G)
c.336+2T>G (n.336+2T>G)
c.822+2T>G (n.822+2T>G)
8g.132174237A>GCA372290035KCNQ3c.1044+2T>C (n.1044+2T>C)
c.684+2T>C (n.684+2T>C)
c.717+2T>C (n.717+2T>C)
c.694+2T>C
n.822+2T>C
c.681+2T>C (n.681+2T>C)
c.-113+2T>C (n.-113+2T>C)
c.336+2T>C (n.336+2T>C)
c.822+2T>C (n.822+2T>C)
8g.132174237A>TCA372290036KCNQ3c.1044+2T>A (n.1044+2T>A)
c.684+2T>A (n.684+2T>A)
c.717+2T>A (n.717+2T>A)
c.694+2T>A
n.822+2T>A
c.681+2T>A (n.681+2T>A)
c.-113+2T>A (n.-113+2T>A)
c.336+2T>A (n.336+2T>A)
c.822+2T>A (n.822+2T>A)
8g.132174238C>ACA372290038KCNQ3c.1044+1G>T (n.1044+1G>T)
c.684+1G>T (n.684+1G>T)
c.717+1G>T (n.717+1G>T)
c.694+1G>T
n.822+1G>T
c.681+1G>T (n.681+1G>T)
c.-113+1G>T (n.-113+1G>T)
c.336+1G>T (n.336+1G>T)
c.822+1G>T (n.822+1G>T)
8g.132174238C=CA1820664009KCNQ3c.1044+1G= (n.1044+1G=)
c.684+1G= (n.684+1G=)
c.717+1G= (n.717+1G=)
c.694+1G=
n.822+1G=
c.681+1G= (n.681+1G=)
c.-113+1G= (n.-113+1G=)
c.336+1G= (n.336+1G=)
c.822+1G= (n.822+1G=)
8g.132174238C>GCA372290039KCNQ3c.1044+1G>C (n.1044+1G>C)
c.684+1G>C (n.684+1G>C)
c.717+1G>C (n.717+1G>C)
c.694+1G>C
n.822+1G>C
c.681+1G>C (n.681+1G>C)
c.-113+1G>C (n.-113+1G>C)
c.336+1G>C (n.336+1G>C)
c.822+1G>C (n.822+1G>C)
8g.132174238C>TCA372290040KCNQ3c.1044+1G>A (n.1044+1G>A)
c.684+1G>A (n.684+1G>A)
c.717+1G>A (n.717+1G>A)
c.694+1G>A
n.822+1G>A
c.681+1G>A (n.681+1G>A)
c.-113+1G>A (n.-113+1G>A)
c.336+1G>A (n.336+1G>A)
c.822+1G>A (n.822+1G>A)
dbSNP
8g.132174239C>ACA463070251KCNQ3c.1044G>T (p.Ala348=)
c.684G>T (p.Ala228=)
c.717G>T (p.Ala239=)
c.694G>T
n.822G>T
c.681G>T (p.Ala227=)
c.-113G>T (n.-113G>T)
c.336G>T (p.Ala112=)
c.822G>T (p.Ala274=)
gnomAD v4
8g.132174239C=CA1820664010KCNQ3c.1044G= (p.Ala348=)
c.684G= (p.Ala228=)
c.717G= (p.Ala239=)
c.694G=
n.822G=
c.681G= (p.Ala227=)
c.-113G= (n.-113G=)
c.336G= (p.Ala112=)
c.822G= (p.Ala274=)
8g.132174239C>GCA463070252KCNQ3c.1044G>C (p.Ala348=)
c.684G>C (p.Ala228=)
c.717G>C (p.Ala239=)
c.694G>C
n.822G>C
c.681G>C (p.Ala227=)
c.-113G>C (n.-113G>C)
c.336G>C (p.Ala112=)
c.822G>C (p.Ala274=)
gnomAD v4
8g.132174239C>TCA4880799KCNQ3c.1044G>A (p.Ala348=)
c.684G>A (p.Ala228=)
c.717G>A (p.Ala239=)
c.694G>A
n.822G>A
c.681G>A (p.Ala227=)
c.-113G>A (n.-113G>A)
c.336G>A (p.Ala112=)
c.822G>A (p.Ala274=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132174240G>ACA315601KCNQ3c.1043C>T (p.Ala348Val)
c.683C>T (p.Ala228Val)
c.716C>T (p.Ala239Val)
c.693C>T
n.821C>T
c.680C>T (p.Ala227Val)
c.-114C>T (n.-114C>T)
c.335C>T (p.Ala112Val)
c.821C>T (p.Ala274Val)
ClinVar dbSNP gnomAD v4
8g.132174240G>CCA372290041KCNQ3c.1043C>G (p.Ala348Gly)
c.683C>G (p.Ala228Gly)
c.716C>G (p.Ala239Gly)
c.693C>G
n.821C>G
c.680C>G (p.Ala227Gly)
c.-114C>G (n.-114C>G)
c.335C>G (p.Ala112Gly)
c.821C>G (p.Ala274Gly)
8g.132174240G=CA1820664011KCNQ3c.1043C= (p.Ala348=)
c.683C= (p.Ala228=)
c.716C= (p.Ala239=)
c.693C=
n.821C=
c.680C= (p.Ala227=)
c.-114C= (n.-114C=)
c.335C= (p.Ala112=)
c.821C= (p.Ala274=)
8g.132174240G>TCA372290042KCNQ3c.1043C>A (p.Ala348Glu)
c.683C>A (p.Ala228Glu)
c.716C>A (p.Ala239Glu)
c.693C>A
n.821C>A
c.680C>A (p.Ala227Glu)
c.-114C>A (n.-114C>A)
c.335C>A (p.Ala112Glu)
c.821C>A (p.Ala274Glu)
gnomAD v4
8g.132174241C>ACA372290043KCNQ3c.1042G>T (p.Ala348Ser)
c.682G>T (p.Ala228Ser)
c.715G>T (p.Ala239Ser)
c.692G>T
n.820G>T
c.679G>T (p.Ala227Ser)
c.-115G>T (n.-115G>T)
c.334G>T (p.Ala112Ser)
c.820G>T (p.Ala274Ser)
gnomAD v4
8g.132174241C=CA1820664012KCNQ3c.1042G= (p.Ala348=)
c.682G= (p.Ala228=)
c.715G= (p.Ala239=)
c.692G=
n.820G=
c.679G= (p.Ala227=)
c.-115G= (n.-115G=)
c.334G= (p.Ala112=)
c.820G= (p.Ala274=)
8g.132174241C>GCA372290044KCNQ3c.1042G>C (p.Ala348Pro)
c.682G>C (p.Ala228Pro)
c.715G>C (p.Ala239Pro)
c.692G>C
n.820G>C
c.679G>C (p.Ala227Pro)
c.-115G>C (n.-115G>C)
c.334G>C (p.Ala112Pro)
c.820G>C (p.Ala274Pro)
8g.132174241C>TCA372290045KCNQ3c.1042G>A (p.Ala348Thr)
c.682G>A (p.Ala228Thr)
c.715G>A (p.Ala239Thr)
c.692G>A
n.820G>A
c.679G>A (p.Ala227Thr)
c.-115G>A (n.-115G>A)
c.334G>A (p.Ala112Thr)
c.820G>A (p.Ala274Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132174242T>ACA463070253KCNQ3c.1041A>T (p.Pro347=)
c.681A>T (p.Pro227=)
c.714A>T (p.Pro238=)
c.691A>T
n.819A>T
c.678A>T (p.Pro226=)
c.-116A>T (n.-116A>T)
c.333A>T (p.Pro111=)
c.819A>T (p.Pro273=)
8g.132174242T>CCA186223371KCNQ3c.1041A>G (p.Pro347=)
c.681A>G (p.Pro227=)
c.714A>G (p.Pro238=)
c.691A>G
n.819A>G
c.678A>G (p.Pro226=)
c.-116A>G (n.-116A>G)
c.333A>G (p.Pro111=)
c.819A>G (p.Pro273=)
dbSNP gnomAD v4
8g.132174242T>GCA463070254KCNQ3c.1041A>C (p.Pro347=)
c.681A>C (p.Pro227=)
c.714A>C (p.Pro238=)
c.691A>C
n.819A>C
c.678A>C (p.Pro226=)
c.-116A>C (n.-116A>C)
c.333A>C (p.Pro111=)
c.819A>C (p.Pro273=)
8g.132174242T=CA1820664013KCNQ3c.1041A= (p.Pro347=)
c.681A= (p.Pro227=)
c.714A= (p.Pro238=)
c.691A=
n.819A=
c.678A= (p.Pro226=)
c.-116A= (n.-116A=)
c.333A= (p.Pro111=)
c.819A= (p.Pro273=)
8g.132174243G>ACA372290048KCNQ3c.1040C>T (p.Pro347Leu)
c.680C>T (p.Pro227Leu)
c.713C>T (p.Pro238Leu)
c.690C>T
n.818C>T
c.677C>T (p.Pro226Leu)
c.-117C>T (n.-117C>T)
c.332C>T (p.Pro111Leu)
c.818C>T (p.Pro273Leu)
ClinVar dbSNP
8g.132174243G>CCA372290046KCNQ3c.1040C>G (p.Pro347Arg)
c.680C>G (p.Pro227Arg)
c.713C>G (p.Pro238Arg)
c.690C>G
n.818C>G
c.677C>G (p.Pro226Arg)
c.-117C>G (n.-117C>G)
c.332C>G (p.Pro111Arg)
c.818C>G (p.Pro273Arg)
8g.132174243G>TCA372290047KCNQ3c.1040C>A (p.Pro347Gln)
c.680C>A (p.Pro227Gln)
c.713C>A (p.Pro238Gln)
c.690C>A
n.818C>A
c.677C>A (p.Pro226Gln)
c.-117C>A (n.-117C>A)
c.332C>A (p.Pro111Gln)
c.818C>A (p.Pro273Gln)
gnomAD v4
8g.132174244G>ACA372290049KCNQ3c.1039C>T (p.Pro347Ser)
c.679C>T (p.Pro227Ser)
c.712C>T (p.Pro238Ser)
c.689C>T
n.817C>T
c.676C>T (p.Pro226Ser)
c.-118C>T (n.-118C>T)
c.331C>T (p.Pro111Ser)
c.817C>T (p.Pro273Ser)
COSMIC
8g.132174244G>CCA372290050KCNQ3c.1039C>G (p.Pro347Ala)
c.679C>G (p.Pro227Ala)
c.712C>G (p.Pro238Ala)
c.689C>G
n.817C>G
c.676C>G (p.Pro226Ala)
c.-118C>G (n.-118C>G)
c.331C>G (p.Pro111Ala)
c.817C>G (p.Pro273Ala)
8g.132174244G>TCA372290051KCNQ3c.1039C>A (p.Pro347Thr)
c.679C>A (p.Pro227Thr)
c.712C>A (p.Pro238Thr)
c.689C>A
n.817C>A
c.676C>A (p.Pro226Thr)
c.-118C>A (n.-118C>A)
c.331C>A (p.Pro111Thr)
c.817C>A (p.Pro273Thr)
8g.132174245A>CCA463070255KCNQ3c.1038T>G (p.Leu346=)
c.678T>G (p.Leu226=)
c.711T>G (p.Leu237=)
c.688T>G
n.816T>G
c.675T>G (p.Leu225=)
c.-119T>G (n.-119T>G)
c.330T>G (p.Leu110=)
c.816T>G (p.Leu272=)
8g.132174245A>GCA463070256KCNQ3c.1038T>C (p.Leu346=)
c.678T>C (p.Leu226=)
c.711T>C (p.Leu237=)
c.688T>C
n.816T>C
c.675T>C (p.Leu225=)
c.-119T>C (n.-119T>C)
c.330T>C (p.Leu110=)
c.816T>C (p.Leu272=)
8g.132174245A>TCA463070257KCNQ3c.1038T>A (p.Leu346=)
c.678T>A (p.Leu226=)
c.711T>A (p.Leu237=)
c.688T>A
n.816T>A
c.675T>A (p.Leu225=)
c.-119T>A (n.-119T>A)
c.330T>A (p.Leu110=)
c.816T>A (p.Leu272=)
8g.132174246A>CCA372290052KCNQ3c.1037T>G (p.Leu346Arg)
c.677T>G (p.Leu226Arg)
c.710T>G (p.Leu237Arg)
c.687T>G
n.815T>G
c.674T>G (p.Leu225Arg)
c.-120T>G (n.-120T>G)
c.329T>G (p.Leu110Arg)
c.815T>G (p.Leu272Arg)
8g.132174246A>GCA372290053KCNQ3c.1037T>C (p.Leu346Pro)
c.677T>C (p.Leu226Pro)
c.710T>C (p.Leu237Pro)
c.687T>C
n.815T>C
c.674T>C (p.Leu225Pro)
c.-120T>C (n.-120T>C)
c.329T>C (p.Leu110Pro)
c.815T>C (p.Leu272Pro)
8g.132174246A>TCA372290054KCNQ3c.1037T>A (p.Leu346His)
c.677T>A (p.Leu226His)
c.710T>A (p.Leu237His)
c.687T>A
n.815T>A
c.674T>A (p.Leu225His)
c.-120T>A (n.-120T>A)
c.329T>A (p.Leu110His)
c.815T>A (p.Leu272His)
gnomAD v4
8g.132174247G>ACA372290055KCNQ3c.1036C>T (p.Leu346Phe)
c.676C>T (p.Leu226Phe)
c.709C>T (p.Leu237Phe)
c.686C>T
n.814C>T
c.673C>T (p.Leu225Phe)
c.-121C>T (n.-121C>T)
c.328C>T (p.Leu110Phe)
c.814C>T (p.Leu272Phe)
dbSNP gnomAD v2 gnomAD v4
8g.132174247G>CCA372290056KCNQ3c.1036C>G (p.Leu346Val)
c.676C>G (p.Leu226Val)
c.709C>G (p.Leu237Val)
c.686C>G
n.814C>G
c.673C>G (p.Leu225Val)
c.-121C>G (n.-121C>G)
c.328C>G (p.Leu110Val)
c.814C>G (p.Leu272Val)
8g.132174247G=CA1820664014KCNQ3c.1036C= (p.Leu346=)
c.676C= (p.Leu226=)
c.709C= (p.Leu237=)
c.686C=
n.814C=
c.673C= (p.Leu225=)
c.-121C= (n.-121C=)
c.328C= (p.Leu110=)
c.814C= (p.Leu272=)
8g.132174247G>TCA372290057KCNQ3c.1036C>A (p.Leu346Ile)
c.676C>A (p.Leu226Ile)
c.709C>A (p.Leu237Ile)
c.686C>A
n.814C>A
c.673C>A (p.Leu225Ile)
c.-121C>A (n.-121C>A)
c.328C>A (p.Leu110Ile)
c.814C>A (p.Leu272Ile)
gnomAD v4
8g.132174248G>ACA463070258KCNQ3c.1035C>T (p.Ala345=)
c.675C>T (p.Ala225=)
c.708C>T (p.Ala236=)
c.685C>T
n.813C>T
c.672C>T (p.Ala224=)
c.-122C>T (n.-122C>T)
c.327C>T (p.Ala109=)
c.813C>T (p.Ala271=)
gnomAD v4
8g.132174248G>CCA463070259KCNQ3c.1035C>G (p.Ala345=)
c.675C>G (p.Ala225=)
c.708C>G (p.Ala236=)
c.685C>G
n.813C>G
c.672C>G (p.Ala224=)
c.-122C>G (n.-122C>G)
c.327C>G (p.Ala109=)
c.813C>G (p.Ala271=)
8g.132174248G>TCA463070260KCNQ3c.1035C>A (p.Ala345=)
c.675C>A (p.Ala225=)
c.708C>A (p.Ala236=)
c.685C>A
n.813C>A
c.672C>A (p.Ala224=)
c.-122C>A (n.-122C>A)
c.327C>A (p.Ala109=)
c.813C>A (p.Ala271=)
gnomAD v4
8g.132174249G>ACA372290058KCNQ3c.1034C>T (p.Ala345Val)
c.674C>T (p.Ala225Val)
c.707C>T (p.Ala236Val)
c.684C>T
n.812C>T
c.671C>T (p.Ala224Val)
c.-123C>T (n.-123C>T)
c.326C>T (p.Ala109Val)
c.812C>T (p.Ala271Val)
ClinVar dbSNP gnomAD v4
8g.132174249G>CCA372290059KCNQ3c.1034C>G (p.Ala345Gly)
c.674C>G (p.Ala225Gly)
c.707C>G (p.Ala236Gly)
c.684C>G
n.812C>G
c.671C>G (p.Ala224Gly)
c.-123C>G (n.-123C>G)
c.326C>G (p.Ala109Gly)
c.812C>G (p.Ala271Gly)
8g.132174249G>TCA372290060KCNQ3c.1034C>A (p.Ala345Asp)
c.674C>A (p.Ala225Asp)
c.707C>A (p.Ala236Asp)
c.684C>A
n.812C>A
c.671C>A (p.Ala224Asp)
c.-123C>A (n.-123C>A)
c.326C>A (p.Ala109Asp)
c.812C>A (p.Ala271Asp)
8g.132174250C>ACA372290062KCNQ3c.1033G>T (p.Ala345Ser)
c.673G>T (p.Ala225Ser)
c.706G>T (p.Ala236Ser)
c.683G>T
n.811G>T
c.670G>T (p.Ala224Ser)
c.-124G>T (n.-124G>T)
c.325G>T (p.Ala109Ser)
c.811G>T (p.Ala271Ser)
gnomAD v4
8g.132174250C>GCA372290063KCNQ3c.1033G>C (p.Ala345Pro)
c.673G>C (p.Ala225Pro)
c.706G>C (p.Ala236Pro)
c.683G>C
n.811G>C
c.670G>C (p.Ala224Pro)
c.-124G>C (n.-124G>C)
c.325G>C (p.Ala109Pro)
c.811G>C (p.Ala271Pro)
8g.132174250C>TCA372290061KCNQ3c.1033G>A (p.Ala345Thr)
c.673G>A (p.Ala225Thr)
c.706G>A (p.Ala236Thr)
c.683G>A
n.811G>A
c.670G>A (p.Ala224Thr)
c.-124G>A (n.-124G>A)
c.325G>A (p.Ala109Thr)
c.811G>A (p.Ala271Thr)
gnomAD v4
8g.132174251A=CA1820664015KCNQ3c.1032T= (p.Phe344=)
c.672T= (p.Phe224=)
c.705T= (p.Phe235=)
c.682T=
n.810T=
c.669T= (p.Phe223=)
c.-125T= (n.-125T=)
c.324T= (p.Phe108=)
c.810T= (p.Phe270=)
8g.132174251A>CCA372290065KCNQ3c.1032T>G (p.Phe344Leu)
c.672T>G (p.Phe224Leu)
c.705T>G (p.Phe235Leu)
c.682T>G
n.810T>G
c.669T>G (p.Phe223Leu)
c.-125T>G (n.-125T>G)
c.324T>G (p.Phe108Leu)
c.810T>G (p.Phe270Leu)
8g.132174251A>GCA463070261KCNQ3c.1032T>C (p.Phe344=)
c.672T>C (p.Phe224=)
c.705T>C (p.Phe235=)
c.682T>C
n.810T>C
c.669T>C (p.Phe223=)
c.-125T>C (n.-125T>C)
c.324T>C (p.Phe108=)
c.810T>C (p.Phe270=)
ClinVar dbSNP
8g.132174251A>TCA372290064KCNQ3c.1032T>A (p.Phe344Leu)
c.672T>A (p.Phe224Leu)
c.705T>A (p.Phe235Leu)
c.682T>A
n.810T>A
c.669T>A (p.Phe223Leu)
c.-125T>A (n.-125T>A)
c.324T>A (p.Phe108Leu)
c.810T>A (p.Phe270Leu)
8g.132174256delCA2688627207KCNQ3c.1032del (p.Phe344LeufsTer?)
c.672del (p.Phe224LeufsTer?)
c.705del (p.Phe235LeufsTer?)
c.682del
n.810del
c.669del (p.Phe223LeufsTer?)
c.-125del (n.-125del)
c.324del (p.Phe108LeufsTer?)
c.810del (p.Phe270LeufsTer?)
gnomAD v4
8g.132174252A>CCA372290066KCNQ3c.1031T>G (p.Phe344Cys)
c.671T>G (p.Phe224Cys)
c.704T>G (p.Phe235Cys)
c.681T>G
n.809T>G
c.668T>G (p.Phe223Cys)
c.-126T>G (n.-126T>G)
c.323T>G (p.Phe108Cys)
c.809T>G (p.Phe270Cys)
8g.132174252A>GCA372290067KCNQ3c.1031T>C (p.Phe344Ser)
c.671T>C (p.Phe224Ser)
c.704T>C (p.Phe235Ser)
c.681T>C
n.809T>C
c.668T>C (p.Phe223Ser)
c.-126T>C (n.-126T>C)
c.323T>C (p.Phe108Ser)
c.809T>C (p.Phe270Ser)
8g.132174252A>TCA372290068KCNQ3c.1031T>A (p.Phe344Tyr)
c.671T>A (p.Phe224Tyr)
c.704T>A (p.Phe235Tyr)
c.681T>A
n.809T>A
c.668T>A (p.Phe223Tyr)
c.-126T>A (n.-126T>A)
c.323T>A (p.Phe108Tyr)
c.809T>A (p.Phe270Tyr)
gnomAD v4
8g.132174253A>CCA372290069KCNQ3c.1030T>G (p.Phe344Val)
c.670T>G (p.Phe224Val)
c.703T>G (p.Phe235Val)
c.680T>G
n.808T>G
c.667T>G (p.Phe223Val)
c.-127T>G (n.-127T>G)
c.322T>G (p.Phe108Val)
c.808T>G (p.Phe270Val)
8g.132174253A>GCA372290070KCNQ3c.1030T>C (p.Phe344Leu)
c.670T>C (p.Phe224Leu)
c.703T>C (p.Phe235Leu)
c.680T>C
n.808T>C
c.667T>C (p.Phe223Leu)
c.-127T>C (n.-127T>C)
c.322T>C (p.Phe108Leu)
c.808T>C (p.Phe270Leu)
8g.132174253A>TCA372290071KCNQ3c.1030T>A (p.Phe344Ile)
c.670T>A (p.Phe224Ile)
c.703T>A (p.Phe235Ile)
c.680T>A
n.808T>A
c.667T>A (p.Phe223Ile)
c.-127T>A (n.-127T>A)
c.322T>A (p.Phe108Ile)
c.808T>A (p.Phe270Ile)
8g.132174254A>CCA372290072KCNQ3c.1029T>G (p.Phe343Leu)
c.669T>G (p.Phe223Leu)
c.702T>G (p.Phe234Leu)
c.679T>G
n.807T>G
c.666T>G (p.Phe222Leu)
c.-128T>G (n.-128T>G)
c.321T>G (p.Phe107Leu)
c.807T>G (p.Phe269Leu)
8g.132174254A>GCA463070262KCNQ3c.1029T>C (p.Phe343=)
c.669T>C (p.Phe223=)
c.702T>C (p.Phe234=)
c.679T>C
n.807T>C
c.666T>C (p.Phe222=)
c.-128T>C (n.-128T>C)
c.321T>C (p.Phe107=)
c.807T>C (p.Phe269=)
8g.132174254A>TCA372290073KCNQ3c.1029T>A (p.Phe343Leu)
c.669T>A (p.Phe223Leu)
c.702T>A (p.Phe234Leu)
c.679T>A
n.807T>A
c.666T>A (p.Phe222Leu)
c.-128T>A (n.-128T>A)
c.321T>A (p.Phe107Leu)
c.807T>A (p.Phe269Leu)
8g.132174255A>CCA372290074KCNQ3c.1028T>G (p.Phe343Cys)
c.668T>G (p.Phe223Cys)
c.701T>G (p.Phe234Cys)
c.678T>G
n.806T>G
c.665T>G (p.Phe222Cys)
c.-129T>G (n.-129T>G)
c.320T>G (p.Phe107Cys)
c.806T>G (p.Phe269Cys)
gnomAD v4
8g.132174255A>GCA372290075KCNQ3c.1028T>C (p.Phe343Ser)
c.668T>C (p.Phe223Ser)
c.701T>C (p.Phe234Ser)
c.678T>C
n.806T>C
c.665T>C (p.Phe222Ser)
c.-129T>C (n.-129T>C)
c.320T>C (p.Phe107Ser)
c.806T>C (p.Phe269Ser)
ClinVar dbSNP
8g.132174255A>TCA372290076KCNQ3c.1028T>A (p.Phe343Tyr)
c.668T>A (p.Phe223Tyr)
c.701T>A (p.Phe234Tyr)
c.678T>A
n.806T>A
c.665T>A (p.Phe222Tyr)
c.-129T>A (n.-129T>A)
c.320T>A (p.Phe107Tyr)
c.806T>A (p.Phe269Tyr)
8g.132174256A>CCA372290079KCNQ3c.1027T>G (p.Phe343Val)
c.667T>G (p.Phe223Val)
c.700T>G (p.Phe234Val)
c.677T>G
n.805T>G
c.664T>G (p.Phe222Val)
c.-130T>G (n.-130T>G)
c.319T>G (p.Phe107Val)
c.805T>G (p.Phe269Val)
gnomAD v4
8g.132174256A>GCA372290077KCNQ3c.1027T>C (p.Phe343Leu)
c.667T>C (p.Phe223Leu)
c.700T>C (p.Phe234Leu)
c.677T>C
n.805T>C
c.664T>C (p.Phe222Leu)
c.-130T>C (n.-130T>C)
c.319T>C (p.Phe107Leu)
c.805T>C (p.Phe269Leu)
gnomAD v4
8g.132174256A>TCA372290078KCNQ3c.1027T>A (p.Phe343Ile)
c.667T>A (p.Phe223Ile)
c.700T>A (p.Phe234Ile)
c.677T>A
n.805T>A
c.664T>A (p.Phe222Ile)
c.-130T>A (n.-130T>A)
c.319T>A (p.Phe107Ile)
c.805T>A (p.Phe269Ile)
COSMIC
8g.132174257G>ACA16605180KCNQ3c.1026C>T (p.Ser342=)
c.666C>T (p.Ser222=)
c.699C>T (p.Ser233=)
c.676C>T
n.804C>T
c.663C>T (p.Ser221=)
c.-131C>T (n.-131C>T)
c.318C>T (p.Ser106=)
c.804C>T (p.Ser268=)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132174257G>CCA463070263KCNQ3c.1026C>G (p.Ser342=)
c.666C>G (p.Ser222=)
c.699C>G (p.Ser233=)
c.676C>G
n.804C>G
c.663C>G (p.Ser221=)
c.-131C>G (n.-131C>G)
c.318C>G (p.Ser106=)
c.804C>G (p.Ser268=)
gnomAD v4
8g.132174257G=CA1820664016KCNQ3c.1026C= (p.Ser342=)
c.666C= (p.Ser222=)
c.699C= (p.Ser233=)
c.676C=
n.804C=
c.663C= (p.Ser221=)
c.-131C= (n.-131C=)
c.318C= (p.Ser106=)
c.804C= (p.Ser268=)
8g.132174257G>TCA463070264KCNQ3c.1026C>A (p.Ser342=)
c.666C>A (p.Ser222=)
c.699C>A (p.Ser233=)
c.676C>A
n.804C>A
c.663C>A (p.Ser221=)
c.-131C>A (n.-131C>A)
c.318C>A (p.Ser106=)
c.804C>A (p.Ser268=)
8g.132174258G>ACA372290080KCNQ3c.1025C>T (p.Ser342Phe)
c.665C>T (p.Ser222Phe)
c.698C>T (p.Ser233Phe)
c.675C>T
n.803C>T
c.662C>T (p.Ser221Phe)
c.-132C>T (n.-132C>T)
c.317C>T (p.Ser106Phe)
c.803C>T (p.Ser268Phe)
8g.132174258G>CCA372290081KCNQ3c.1025C>G (p.Ser342Cys)
c.665C>G (p.Ser222Cys)
c.698C>G (p.Ser233Cys)
c.675C>G
n.803C>G
c.662C>G (p.Ser221Cys)
c.-132C>G (n.-132C>G)
c.317C>G (p.Ser106Cys)
c.803C>G (p.Ser268Cys)
8g.132174258G>TCA372290082KCNQ3c.1025C>A (p.Ser342Tyr)
c.665C>A (p.Ser222Tyr)
c.698C>A (p.Ser233Tyr)
c.675C>A
n.803C>A
c.662C>A (p.Ser221Tyr)
c.-132C>A (n.-132C>A)
c.317C>A (p.Ser106Tyr)
c.803C>A (p.Ser268Tyr)
gnomAD v4
8g.132174259A>CCA372290083KCNQ3c.1024T>G (p.Ser342Ala)
c.664T>G (p.Ser222Ala)
c.697T>G (p.Ser233Ala)
c.674T>G
n.802T>G
c.661T>G (p.Ser221Ala)
c.-133T>G (n.-133T>G)
c.316T>G (p.Ser106Ala)
c.802T>G (p.Ser268Ala)
8g.132174259A>GCA372290084KCNQ3c.1024T>C (p.Ser342Pro)
c.664T>C (p.Ser222Pro)
c.697T>C (p.Ser233Pro)
c.674T>C
n.802T>C
c.661T>C (p.Ser221Pro)
c.-133T>C (n.-133T>C)
c.316T>C (p.Ser106Pro)
c.802T>C (p.Ser268Pro)
gnomAD v4
8g.132174259A>TCA372290085KCNQ3c.1024T>A (p.Ser342Thr)
c.664T>A (p.Ser222Thr)
c.697T>A (p.Ser233Thr)
c.674T>A
n.802T>A
c.661T>A (p.Ser221Thr)
c.-133T>A (n.-133T>A)
c.316T>A (p.Ser106Thr)
c.802T>A (p.Ser268Thr)
8g.132174260G>ACA463070266KCNQ3c.1023C>T (p.Val341=)
c.663C>T (p.Val221=)
c.696C>T (p.Val232=)
c.673C>T
n.801C>T
c.660C>T (p.Val220=)
c.-134C>T (n.-134C>T)
c.315C>T (p.Val105=)
c.801C>T (p.Val267=)
8g.132174260G>CCA463070267KCNQ3c.1023C>G (p.Val341=)
c.663C>G (p.Val221=)
c.696C>G (p.Val232=)
c.673C>G
n.801C>G
c.660C>G (p.Val220=)
c.-134C>G (n.-134C>G)
c.315C>G (p.Val105=)
c.801C>G (p.Val267=)
8g.132174260G>TCA463070268KCNQ3c.1023C>A (p.Val341=)
c.663C>A (p.Val221=)
c.696C>A (p.Val232=)
c.673C>A
n.801C>A
c.660C>A (p.Val220=)
c.-134C>A (n.-134C>A)
c.315C>A (p.Val105=)
c.801C>A (p.Val267=)
8g.132174261A>CCA372290086KCNQ3c.1022T>G (p.Val341Gly)
c.662T>G (p.Val221Gly)
c.695T>G (p.Val232Gly)
c.672T>G
n.800T>G
c.659T>G (p.Val220Gly)
c.-135T>G (n.-135T>G)
c.314T>G (p.Val105Gly)
c.800T>G (p.Val267Gly)
8g.132174261A>GCA372290087KCNQ3c.1022T>C (p.Val341Ala)
c.662T>C (p.Val221Ala)
c.695T>C (p.Val232Ala)
c.672T>C
n.800T>C
c.659T>C (p.Val220Ala)
c.-135T>C (n.-135T>C)
c.314T>C (p.Val105Ala)
c.800T>C (p.Val267Ala)
8g.132174261A>TCA372290088KCNQ3c.1022T>A (p.Val341Asp)
c.662T>A (p.Val221Asp)
c.695T>A (p.Val232Asp)
c.672T>A
n.800T>A
c.659T>A (p.Val220Asp)
c.-135T>A (n.-135T>A)
c.314T>A (p.Val105Asp)
c.800T>A (p.Val267Asp)
8g.132174262C>ACA372290089KCNQ3c.1021G>T (p.Val341Phe)
c.661G>T (p.Val221Phe)
c.694G>T (p.Val232Phe)
c.671G>T
n.799G>T
c.658G>T (p.Val220Phe)
c.-136G>T (n.-136G>T)
c.313G>T (p.Val105Phe)
c.799G>T (p.Val267Phe)
8g.132174262C=CA1820664017KCNQ3c.1021G= (p.Val341=)
c.661G= (p.Val221=)
c.694G= (p.Val232=)
c.671G=
n.799G=
c.658G= (p.Val220=)
c.-136G= (n.-136G=)
c.313G= (p.Val105=)
c.799G= (p.Val267=)
8g.132174262C>GCA372290090KCNQ3c.1021G>C (p.Val341Leu)
c.661G>C (p.Val221Leu)
c.694G>C (p.Val232Leu)
c.671G>C
n.799G>C
c.658G>C (p.Val220Leu)
c.-136G>C (n.-136G>C)
c.313G>C (p.Val105Leu)
c.799G>C (p.Val267Leu)
8g.132174262C>TCA4880800KCNQ3c.1021G>A (p.Val341Ile)
c.661G>A (p.Val221Ile)
c.694G>A (p.Val232Ile)
c.671G>A
n.799G>A
c.658G>A (p.Val220Ile)
c.-136G>A (n.-136G>A)
c.313G>A (p.Val105Ile)
c.799G>A (p.Val267Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132174263G>ACA463070269KCNQ3c.1020C>T (p.Gly340=)
c.660C>T (p.Gly220=)
c.693C>T (p.Gly231=)
c.670C>T
n.798C>T
c.657C>T (p.Gly219=)
c.-137C>T (n.-137C>T)
c.312C>T (p.Gly104=)
c.798C>T (p.Gly266=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132174263G>CCA463070270KCNQ3c.1020C>G (p.Gly340=)
c.660C>G (p.Gly220=)
c.693C>G (p.Gly231=)
c.670C>G
n.798C>G
c.657C>G (p.Gly219=)
c.-137C>G (n.-137C>G)
c.312C>G (p.Gly104=)
c.798C>G (p.Gly266=)
8g.132174263G=CA1820664018KCNQ3c.1020C= (p.Gly340=)
c.660C= (p.Gly220=)
c.693C= (p.Gly231=)
c.670C=
n.798C=
c.657C= (p.Gly219=)
c.-137C= (n.-137C=)
c.312C= (p.Gly104=)
c.798C= (p.Gly266=)
8g.132174263G>TCA463070271KCNQ3c.1020C>A (p.Gly340=)
c.660C>A (p.Gly220=)
c.693C>A (p.Gly231=)
c.670C>A
n.798C>A
c.657C>A (p.Gly219=)
c.-137C>A (n.-137C>A)
c.312C>A (p.Gly104=)
c.798C>A (p.Gly266=)
gnomAD v4
8g.132174264C>ACA372290092KCNQ3c.1019G>T (p.Gly340Val)
c.659G>T (p.Gly220Val)
c.692G>T (p.Gly231Val)
c.669G>T
n.797G>T
c.656G>T (p.Gly219Val)
c.-138G>T (n.-138G>T)
c.311G>T (p.Gly104Val)
c.797G>T (p.Gly266Val)
ClinVar dbSNP gnomAD v4
8g.132174264C>GCA372290093KCNQ3c.1019G>C (p.Gly340Ala)
c.659G>C (p.Gly220Ala)
c.692G>C (p.Gly231Ala)
c.669G>C
n.797G>C
c.656G>C (p.Gly219Ala)
c.-138G>C (n.-138G>C)
c.311G>C (p.Gly104Ala)
c.797G>C (p.Gly266Ala)
8g.132174264C>TCA372290091KCNQ3c.1019G>A (p.Gly340Asp)
c.659G>A (p.Gly220Asp)
c.692G>A (p.Gly231Asp)
c.669G>A
n.797G>A
c.656G>A (p.Gly219Asp)
c.-138G>A (n.-138G>A)
c.311G>A (p.Gly104Asp)
c.797G>A (p.Gly266Asp)
8g.132174265C>ACA372290094KCNQ3c.1018G>T (p.Gly340Cys)
c.658G>T (p.Gly220Cys)
c.691G>T (p.Gly231Cys)
c.668G>T
n.796G>T
c.655G>T (p.Gly219Cys)
c.-139G>T (n.-139G>T)
c.310G>T (p.Gly104Cys)
c.796G>T (p.Gly266Cys)
8g.132174265C>GCA372290095KCNQ3c.1018G>C (p.Gly340Arg)
c.658G>C (p.Gly220Arg)
c.691G>C (p.Gly231Arg)
c.668G>C
n.796G>C
c.655G>C (p.Gly219Arg)
c.-139G>C (n.-139G>C)
c.310G>C (p.Gly104Arg)
c.796G>C (p.Gly266Arg)
8g.132174265C>TCA372290096KCNQ3c.1018G>A (p.Gly340Ser)
c.658G>A (p.Gly220Ser)
c.691G>A (p.Gly231Ser)
c.668G>A
n.796G>A
c.655G>A (p.Gly219Ser)
c.-139G>A (n.-139G>A)
c.310G>A (p.Gly104Ser)
c.796G>A (p.Gly266Ser)
ClinVar
8g.132174266A>CCA372290097KCNQ3c.1017T>G (p.Ile339Met)
c.657T>G (p.Ile219Met)
c.690T>G (p.Ile230Met)
c.667T>G
n.795T>G
c.654T>G (p.Ile218Met)
c.-140T>G (n.-140T>G)
c.309T>G (p.Ile103Met)
c.795T>G (p.Ile265Met)
8g.132174266A>GCA463070272KCNQ3c.1017T>C (p.Ile339=)
c.657T>C (p.Ile219=)
c.690T>C (p.Ile230=)
c.667T>C
n.795T>C
c.654T>C (p.Ile218=)
c.-140T>C (n.-140T>C)
c.309T>C (p.Ile103=)
c.795T>C (p.Ile265=)
gnomAD v4
8g.132174266A>TCA463070273KCNQ3c.1017T>A (p.Ile339=)
c.657T>A (p.Ile219=)
c.690T>A (p.Ile230=)
c.667T>A
n.795T>A
c.654T>A (p.Ile218=)
c.-140T>A (n.-140T>A)
c.309T>A (p.Ile103=)
c.795T>A (p.Ile265=)
8g.132174267delCA2782246804KCNQ3c.1017del (p.Ile339MetfsTer?)
c.657del (p.Ile219MetfsTer?)
c.690del (p.Ile230MetfsTer?)
c.667del
n.795del
c.654del (p.Ile218MetfsTer?)
c.-140del (n.-140del)
c.309del (p.Ile103MetfsTer?)
c.795del (p.Ile265MetfsTer?)
8g.132174267A=CA1820664019KCNQ3c.1016T= (p.Ile339=)
c.656T= (p.Ile219=)
c.689T= (p.Ile230=)
c.666T=
n.794T=
c.653T= (p.Ile218=)
c.-141T= (n.-141T=)
c.308T= (p.Ile103=)
c.794T= (p.Ile265=)
8g.132174267A>CCA372290098KCNQ3c.1016T>G (p.Ile339Ser)
c.656T>G (p.Ile219Ser)
c.689T>G (p.Ile230Ser)
c.666T>G
n.794T>G
c.653T>G (p.Ile218Ser)
c.-141T>G (n.-141T>G)
c.308T>G (p.Ile103Ser)
c.794T>G (p.Ile265Ser)
8g.132174267A>GCA372290099KCNQ3c.1016T>C (p.Ile339Thr)
c.656T>C (p.Ile219Thr)
c.689T>C (p.Ile230Thr)
c.666T>C
n.794T>C
c.653T>C (p.Ile218Thr)
c.-141T>C (n.-141T>C)
c.308T>C (p.Ile103Thr)
c.794T>C (p.Ile265Thr)
ClinVar dbSNP
8g.132174267A>TCA372290100KCNQ3c.1016T>A (p.Ile339Asn)
c.656T>A (p.Ile219Asn)
c.689T>A (p.Ile230Asn)
c.666T>A
n.794T>A
c.653T>A (p.Ile218Asn)
c.-141T>A (n.-141T>A)
c.308T>A (p.Ile103Asn)
c.794T>A (p.Ile265Asn)
8g.132174268T>ACA372290101KCNQ3c.1015A>T (p.Ile339Phe)
c.655A>T (p.Ile219Phe)
c.688A>T (p.Ile230Phe)
c.665A>T
n.793A>T
c.652A>T (p.Ile218Phe)
c.-142A>T (n.-142A>T)
c.307A>T (p.Ile103Phe)
c.793A>T (p.Ile265Phe)
8g.132174268T>CCA372290102KCNQ3c.1015A>G (p.Ile339Val)
c.655A>G (p.Ile219Val)
c.688A>G (p.Ile230Val)
c.665A>G
n.793A>G
c.652A>G (p.Ile218Val)
c.-142A>G (n.-142A>G)
c.307A>G (p.Ile103Val)
c.793A>G (p.Ile265Val)
8g.132174268T>GCA372290103KCNQ3c.1015A>C (p.Ile339Leu)
c.655A>C (p.Ile219Leu)
c.688A>C (p.Ile230Leu)
c.665A>C
n.793A>C
c.652A>C (p.Ile218Leu)
c.-142A>C (n.-142A>C)
c.307A>C (p.Ile103Leu)
c.793A>C (p.Ile265Leu)
gnomAD v4
8g.132174269T>ACA372290104KCNQ3c.1014A>T (p.Leu338Phe)
c.654A>T (p.Leu218Phe)
c.687A>T (p.Leu229Phe)
c.664A>T
n.792A>T
c.651A>T (p.Leu217Phe)
c.-143A>T (n.-143A>T)
c.306A>T (p.Leu102Phe)
c.792A>T (p.Leu264Phe)
8g.132174269T>CCA463070274KCNQ3c.1014A>G (p.Leu338=)
c.654A>G (p.Leu218=)
c.687A>G (p.Leu229=)
c.664A>G
n.792A>G
c.651A>G (p.Leu217=)
c.-143A>G (n.-143A>G)
c.306A>G (p.Leu102=)
c.792A>G (p.Leu264=)
8g.132174269T>GCA372290105KCNQ3c.1014A>C (p.Leu338Phe)
c.654A>C (p.Leu218Phe)
c.687A>C (p.Leu229Phe)
c.664A>C
n.792A>C
c.651A>C (p.Leu217Phe)
c.-143A>C (n.-143A>C)
c.306A>C (p.Leu102Phe)
c.792A>C (p.Leu264Phe)
8g.132174270A=CA1820664020KCNQ3c.1013T= (p.Leu338=)
c.653T= (p.Leu218=)
c.686T= (p.Leu229=)
c.663T=
n.791T=
c.650T= (p.Leu217=)
c.-144T= (n.-144T=)
c.305T= (p.Leu102=)
c.791T= (p.Leu264=)
8g.132174270A>CCA372290107KCNQ3c.1013T>G (p.Leu338Ter)
c.653T>G (p.Leu218Ter)
c.686T>G (p.Leu229Ter)
c.663T>G
n.791T>G
c.650T>G (p.Leu217Ter)
c.-144T>G (n.-144T>G)
c.305T>G (p.Leu102Ter)
c.791T>G (p.Leu264Ter)
8g.132174270A>GCA4880801KCNQ3c.1013T>C (p.Leu338Ser)
c.653T>C (p.Leu218Ser)
c.686T>C (p.Leu229Ser)
c.663T>C
n.791T>C
c.650T>C (p.Leu217Ser)
c.-144T>C (n.-144T>C)
c.305T>C (p.Leu102Ser)
c.791T>C (p.Leu264Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132174270A>TCA372290106KCNQ3c.1013T>A (p.Leu338Ter)
c.653T>A (p.Leu218Ter)
c.686T>A (p.Leu229Ter)
c.663T>A
n.791T>A
c.650T>A (p.Leu217Ter)
c.-144T>A (n.-144T>A)
c.305T>A (p.Leu102Ter)
c.791T>A (p.Leu264Ter)
8g.132174271A>CCA372290108KCNQ3c.1012T>G (p.Leu338Val)
c.652T>G (p.Leu218Val)
c.685T>G (p.Leu229Val)
c.662T>G
n.790T>G
c.649T>G (p.Leu217Val)
c.-145T>G (n.-145T>G)
c.304T>G (p.Leu102Val)
c.790T>G (p.Leu264Val)
8g.132174271A>GCA463070275KCNQ3c.1012T>C (p.Leu338=)
c.652T>C (p.Leu218=)
c.685T>C (p.Leu229=)
c.662T>C
n.790T>C
c.649T>C (p.Leu217=)
c.-145T>C (n.-145T>C)
c.304T>C (p.Leu102=)
c.790T>C (p.Leu264=)
8g.132174271A>TCA372290109KCNQ3c.1012T>A (p.Leu338Ile)
c.652T>A (p.Leu218Ile)
c.685T>A (p.Leu229Ile)
c.662T>A
n.790T>A
c.649T>A (p.Leu217Ile)
c.-145T>A (n.-145T>A)
c.304T>A (p.Leu102Ile)
c.790T>A (p.Leu264Ile)
8g.132174272G>ACA463070277KCNQ3c.1011C>T (p.Ser337=)
c.651C>T (p.Ser217=)
c.684C>T (p.Ser228=)
c.661C>T
n.789C>T
c.648C>T (p.Ser216=)
c.-146C>T (n.-146C>T)
c.303C>T (p.Ser101=)
c.789C>T (p.Ser263=)
gnomAD v4
8g.132174272G>CCA463070278KCNQ3c.1011C>G (p.Ser337=)
c.651C>G (p.Ser217=)
c.684C>G (p.Ser228=)
c.661C>G
n.789C>G
c.648C>G (p.Ser216=)
c.-146C>G (n.-146C>G)
c.303C>G (p.Ser101=)
c.789C>G (p.Ser263=)
8g.132174272G>TCA463070276KCNQ3c.1011C>A (p.Ser337=)
c.651C>A (p.Ser217=)
c.684C>A (p.Ser228=)
c.661C>A
n.789C>A
c.648C>A (p.Ser216=)
c.-146C>A (n.-146C>A)
c.303C>A (p.Ser101=)
c.789C>A (p.Ser263=)
gnomAD v4
8g.132174273G>ACA372290110KCNQ3c.1010C>T (p.Ser337Phe)
c.650C>T (p.Ser217Phe)
c.683C>T (p.Ser228Phe)
c.660C>T
n.788C>T
c.647C>T (p.Ser216Phe)
c.-147C>T (n.-147C>T)
c.302C>T (p.Ser101Phe)
c.788C>T (p.Ser263Phe)
COSMIC
8g.132174273G>CCA372290111KCNQ3c.1010C>G (p.Ser337Cys)
c.650C>G (p.Ser217Cys)
c.683C>G (p.Ser228Cys)
c.660C>G
n.788C>G
c.647C>G (p.Ser216Cys)
c.-147C>G (n.-147C>G)
c.302C>G (p.Ser101Cys)
c.788C>G (p.Ser263Cys)
8g.132174273G>TCA372290112KCNQ3c.1010C>A (p.Ser337Tyr)
c.650C>A (p.Ser217Tyr)
c.683C>A (p.Ser228Tyr)
c.660C>A
n.788C>A
c.647C>A (p.Ser216Tyr)
c.-147C>A (n.-147C>A)
c.302C>A (p.Ser101Tyr)
c.788C>A (p.Ser263Tyr)
8g.132174273_132174274delinsGACA1820664021KCNQ3c.1009_1010delinsTC (p.Ser337=)
c.649_650delinsTC (p.Ser217=)
c.682_683delinsTC (p.Ser228=)
c.659_660delinsTC
n.787_788delinsTC
c.646_647delinsTC (p.Ser216=)
c.-148_-147delinsTC (n.-148_-147delinsTC)
c.301_302delinsTC (p.Ser101=)
c.787_788delinsTC (p.Ser263=)
8g.132174274A>CCA372290115KCNQ3c.1009T>G (p.Ser337Ala)
c.649T>G (p.Ser217Ala)
c.682T>G (p.Ser228Ala)
c.659T>G
n.787T>G
c.646T>G (p.Ser216Ala)
c.-148T>G (n.-148T>G)
c.301T>G (p.Ser101Ala)
c.787T>G (p.Ser263Ala)
8g.132174274A>GCA372290114KCNQ3c.1009T>C (p.Ser337Pro)
c.649T>C (p.Ser217Pro)
c.682T>C (p.Ser228Pro)
c.659T>C
n.787T>C
c.646T>C (p.Ser216Pro)
c.-148T>C (n.-148T>C)
c.301T>C (p.Ser101Pro)
c.787T>C (p.Ser263Pro)
8g.132174274A>TCA372290113KCNQ3c.1009T>A (p.Ser337Thr)
c.649T>A (p.Ser217Thr)
c.682T>A (p.Ser228Thr)
c.659T>A
n.787T>A
c.646T>A (p.Ser216Thr)
c.-148T>A (n.-148T>A)
c.301T>A (p.Ser101Thr)
c.787T>A (p.Ser263Thr)
8g.132174277delCA186223372KCNQ3c.1009del (p.Ser337ProfsTer2)
c.649del (p.Ser217ProfsTer2)
c.682del (p.Ser228ProfsTer2)
c.659del
n.787del
c.646del (p.Ser216ProfsTer2)
c.-148del (n.-148del)
c.301del (p.Ser101ProfsTer2)
c.787del (p.Ser263ProfsTer2)
dbSNP gnomAD v2 gnomAD v4
8g.132174275A>CCA372290116KCNQ3c.1008T>G (p.Phe336Leu)
c.648T>G (p.Phe216Leu)
c.681T>G (p.Phe227Leu)
c.658T>G
n.786T>G
c.645T>G (p.Phe215Leu)
c.-149T>G (n.-149T>G)
c.300T>G (p.Phe100Leu)
c.786T>G (p.Phe262Leu)
8g.132174275A>GCA463070279KCNQ3c.1008T>C (p.Phe336=)
c.648T>C (p.Phe216=)
c.681T>C (p.Phe227=)
c.658T>C
n.786T>C
c.645T>C (p.Phe215=)
c.-149T>C (n.-149T>C)
c.300T>C (p.Phe100=)
c.786T>C (p.Phe262=)
8g.132174275A>TCA372290117KCNQ3c.1008T>A (p.Phe336Leu)
c.648T>A (p.Phe216Leu)
c.681T>A (p.Phe227Leu)
c.658T>A
n.786T>A
c.645T>A (p.Phe215Leu)
c.-149T>A (n.-149T>A)
c.300T>A (p.Phe100Leu)
c.786T>A (p.Phe262Leu)
8g.132174276A>CCA372290118KCNQ3c.1007T>G (p.Phe336Cys)
c.647T>G (p.Phe216Cys)
c.680T>G (p.Phe227Cys)
c.657T>G
n.785T>G
c.644T>G (p.Phe215Cys)
c.-150T>G (n.-150T>G)
c.299T>G (p.Phe100Cys)
c.785T>G (p.Phe262Cys)
8g.132174276A>GCA372290119KCNQ3c.1007T>C (p.Phe336Ser)
c.647T>C (p.Phe216Ser)
c.680T>C (p.Phe227Ser)
c.657T>C
n.785T>C
c.644T>C (p.Phe215Ser)
c.-150T>C (n.-150T>C)
c.299T>C (p.Phe100Ser)
c.785T>C (p.Phe262Ser)
gnomAD v4
8g.132174276A>TCA372290120KCNQ3c.1007T>A (p.Phe336Tyr)
c.647T>A (p.Phe216Tyr)
c.680T>A (p.Phe227Tyr)
c.657T>A
n.785T>A
c.644T>A (p.Phe215Tyr)
c.-150T>A (n.-150T>A)
c.299T>A (p.Phe100Tyr)
c.785T>A (p.Phe262Tyr)
8g.132174277A>CCA372290123KCNQ3c.1006T>G (p.Phe336Val)
c.646T>G (p.Phe216Val)
c.679T>G (p.Phe227Val)
c.656T>G
n.784T>G
c.643T>G (p.Phe215Val)
c.-151T>G (n.-151T>G)
c.298T>G (p.Phe100Val)
c.784T>G (p.Phe262Val)
gnomAD v4
8g.132174277A>GCA372290122KCNQ3c.1006T>C (p.Phe336Leu)
c.646T>C (p.Phe216Leu)
c.679T>C (p.Phe227Leu)
c.656T>C
n.784T>C
c.643T>C (p.Phe215Leu)
c.-151T>C (n.-151T>C)
c.298T>C (p.Phe100Leu)
c.784T>C (p.Phe262Leu)
gnomAD v4
8g.132174277A>TCA372290121KCNQ3c.1006T>A (p.Phe336Ile)
c.646T>A (p.Phe216Ile)
c.679T>A (p.Phe227Ile)
c.656T>A
n.784T>A
c.643T>A (p.Phe215Ile)
c.-151T>A (n.-151T>A)
c.298T>A (p.Phe100Ile)
c.784T>A (p.Phe262Ile)
8g.132174278G>ACA463070280KCNQ3c.1005C>T (p.Thr335=)
c.645C>T (p.Thr215=)
c.678C>T (p.Thr226=)
c.655C>T
n.783C>T
c.642C>T (p.Thr214=)
c.-152C>T (n.-152C>T)
c.297C>T (p.Thr99=)
c.783C>T (p.Thr261=)
ClinVar gnomAD v4
8g.132174278G>CCA463070281KCNQ3c.1005C>G (p.Thr335=)
c.645C>G (p.Thr215=)
c.678C>G (p.Thr226=)
c.655C>G
n.783C>G
c.642C>G (p.Thr214=)
c.-152C>G (n.-152C>G)
c.297C>G (p.Thr99=)
c.783C>G (p.Thr261=)
dbSNP
8g.132174278G=CA1820664022KCNQ3c.1005C= (p.Thr335=)
c.645C= (p.Thr215=)
c.678C= (p.Thr226=)
c.655C=
n.783C=
c.642C= (p.Thr214=)
c.-152C= (n.-152C=)
c.297C= (p.Thr99=)
c.783C= (p.Thr261=)
8g.132174278G>TCA4880802KCNQ3c.1005C>A (p.Thr335=)
c.645C>A (p.Thr215=)
c.678C>A (p.Thr226=)
c.655C>A
n.783C>A
c.642C>A (p.Thr214=)
c.-152C>A (n.-152C>A)
c.297C>A (p.Thr99=)
c.783C>A (p.Thr261=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132174279G>ACA372290124KCNQ3c.1004C>T (p.Thr335Ile)
c.644C>T (p.Thr215Ile)
c.677C>T (p.Thr226Ile)
c.654C>T
n.782C>T
c.641C>T (p.Thr214Ile)
c.-153C>T (n.-153C>T)
c.296C>T (p.Thr99Ile)
c.782C>T (p.Thr261Ile)
COSMIC
8g.132174279G>CCA372290126KCNQ3c.1004C>G (p.Thr335Ser)
c.644C>G (p.Thr215Ser)
c.677C>G (p.Thr226Ser)
c.654C>G
n.782C>G
c.641C>G (p.Thr214Ser)
c.-153C>G (n.-153C>G)
c.296C>G (p.Thr99Ser)
c.782C>G (p.Thr261Ser)
gnomAD v4
8g.132174279G>TCA372290125KCNQ3c.1004C>A (p.Thr335Asn)
c.644C>A (p.Thr215Asn)
c.677C>A (p.Thr226Asn)
c.654C>A
n.782C>A
c.641C>A (p.Thr214Asn)
c.-153C>A (n.-153C>A)
c.296C>A (p.Thr99Asn)
c.782C>A (p.Thr261Asn)
gnomAD v4
8g.132174280T>ACA372290127KCNQ3c.1003A>T (p.Thr335Ser)
c.643A>T (p.Thr215Ser)
c.676A>T (p.Thr226Ser)
c.653A>T
n.781A>T
c.640A>T (p.Thr214Ser)
c.-154A>T (n.-154A>T)
c.295A>T (p.Thr99Ser)
c.781A>T (p.Thr261Ser)
8g.132174280T>CCA372290129KCNQ3c.1003A>G (p.Thr335Ala)
c.643A>G (p.Thr215Ala)
c.676A>G (p.Thr226Ala)
c.653A>G
n.781A>G
c.640A>G (p.Thr214Ala)
c.-154A>G (n.-154A>G)
c.295A>G (p.Thr99Ala)
c.781A>G (p.Thr261Ala)
8g.132174280T>GCA372290128KCNQ3c.1003A>C (p.Thr335Pro)
c.643A>C (p.Thr215Pro)
c.676A>C (p.Thr226Pro)
c.653A>C
n.781A>C
c.640A>C (p.Thr214Pro)
c.-154A>C (n.-154A>C)
c.295A>C (p.Thr99Pro)
c.781A>C (p.Thr261Pro)
gnomAD v4
8g.132174281G>ACA463070284KCNQ3c.1002C>T (p.Ala334=)
c.642C>T (p.Ala214=)
c.675C>T (p.Ala225=)
c.652C>T
n.780C>T
c.639C>T (p.Ala213=)
c.-155C>T (n.-155C>T)
c.294C>T (p.Ala98=)
c.780C>T (p.Ala260=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132174281G>CCA463070283KCNQ3c.1002C>G (p.Ala334=)
c.642C>G (p.Ala214=)
c.675C>G (p.Ala225=)
c.652C>G
n.780C>G
c.639C>G (p.Ala213=)
c.-155C>G (n.-155C>G)
c.294C>G (p.Ala98=)
c.780C>G (p.Ala260=)
8g.132174281G=CA1820664023KCNQ3c.1002C= (p.Ala334=)
c.642C= (p.Ala214=)
c.675C= (p.Ala225=)
c.652C=
n.780C=
c.639C= (p.Ala213=)
c.-155C= (n.-155C=)
c.294C= (p.Ala98=)
c.780C= (p.Ala260=)
8g.132174281G>TCA463070282KCNQ3c.1002C>A (p.Ala334=)
c.642C>A (p.Ala214=)
c.675C>A (p.Ala225=)
c.652C>A
n.780C>A
c.639C>A (p.Ala213=)
c.-155C>A (n.-155C>A)
c.294C>A (p.Ala98=)
c.780C>A (p.Ala260=)
gnomAD v4
8g.132174282G>ACA372290130KCNQ3c.1001C>T (p.Ala334Val)
c.641C>T (p.Ala214Val)
c.674C>T (p.Ala225Val)
c.651C>T
n.779C>T
c.638C>T (p.Ala213Val)
c.-156C>T (n.-156C>T)
c.293C>T (p.Ala98Val)
c.779C>T (p.Ala260Val)
8g.132174282G>CCA372290131KCNQ3c.1001C>G (p.Ala334Gly)
c.641C>G (p.Ala214Gly)
c.674C>G (p.Ala225Gly)
c.651C>G
n.779C>G
c.638C>G (p.Ala213Gly)
c.-156C>G (n.-156C>G)
c.293C>G (p.Ala98Gly)
c.779C>G (p.Ala260Gly)
8g.132174282G>TCA372290132KCNQ3c.1001C>A (p.Ala334Asp)
c.641C>A (p.Ala214Asp)
c.674C>A (p.Ala225Asp)
c.651C>A
n.779C>A
c.638C>A (p.Ala213Asp)
c.-156C>A (n.-156C>A)
c.293C>A (p.Ala98Asp)
c.779C>A (p.Ala260Asp)
8g.132174283C>ACA372290133KCNQ3c.1000G>T (p.Ala334Ser)
c.640G>T (p.Ala214Ser)
c.673G>T (p.Ala225Ser)
c.650G>T
n.778G>T
c.637G>T (p.Ala213Ser)
c.-157G>T (n.-157G>T)
c.292G>T (p.Ala98Ser)
c.778G>T (p.Ala260Ser)
gnomAD v4
8g.132174283C=CA1820664024KCNQ3c.1000G= (p.Ala334=)
c.640G= (p.Ala214=)
c.673G= (p.Ala225=)
c.650G=
n.778G=
c.637G= (p.Ala213=)
c.-157G= (n.-157G=)
c.292G= (p.Ala98=)
c.778G= (p.Ala260=)
8g.132174283C>GCA372290134KCNQ3c.1000G>C (p.Ala334Pro)
c.640G>C (p.Ala214Pro)
c.673G>C (p.Ala225Pro)
c.650G>C
n.778G>C
c.637G>C (p.Ala213Pro)
c.-157G>C (n.-157G>C)
c.292G>C (p.Ala98Pro)
c.778G>C (p.Ala260Pro)
8g.132174283C>TCA372290135KCNQ3c.1000G>A (p.Ala334Thr)
c.640G>A (p.Ala214Thr)
c.673G>A (p.Ala225Thr)
c.650G>A
n.778G>A
c.637G>A (p.Ala213Thr)
c.-157G>A (n.-157G>A)
c.292G>A (p.Ala98Thr)
c.778G>A (p.Ala260Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.132174284G>ACA4880803KCNQ3c.999C>T (p.Ala333=)
c.639C>T (p.Ala213=)
c.672C>T (p.Ala224=)
c.649C>T
n.777C>T
c.636C>T (p.Ala212=)
c.-158C>T (n.-158C>T)
c.291C>T (p.Ala97=)
c.777C>T (p.Ala259=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132174284G>CCA463070286KCNQ3c.999C>G (p.Ala333=)
c.639C>G (p.Ala213=)
c.672C>G (p.Ala224=)
c.649C>G
n.777C>G
c.636C>G (p.Ala212=)
c.-158C>G (n.-158C>G)
c.291C>G (p.Ala97=)
c.777C>G (p.Ala259=)
8g.132174284G=CA1820664025KCNQ3c.999C= (p.Ala333=)
c.639C= (p.Ala213=)
c.672C= (p.Ala224=)
c.649C=
n.777C=
c.636C= (p.Ala212=)
c.-158C= (n.-158C=)
c.291C= (p.Ala97=)
c.777C= (p.Ala259=)
8g.132174284G>TCA463070285KCNQ3c.999C>A (p.Ala333=)
c.639C>A (p.Ala213=)
c.672C>A (p.Ala224=)
c.649C>A
n.777C>A
c.636C>A (p.Ala212=)
c.-158C>A (n.-158C>A)
c.291C>A (p.Ala97=)
c.777C>A (p.Ala259=)
gnomAD v4
8g.132174285G>ACA372290136KCNQ3c.998C>T (p.Ala333Val)
c.638C>T (p.Ala213Val)
c.671C>T (p.Ala224Val)
c.648C>T
n.776C>T
c.635C>T (p.Ala212Val)
c.-159C>T (n.-159C>T)
c.290C>T (p.Ala97Val)
c.776C>T (p.Ala259Val)
gnomAD v4
8g.132174285G>CCA372290137KCNQ3c.998C>G (p.Ala333Gly)
c.638C>G (p.Ala213Gly)
c.671C>G (p.Ala224Gly)
c.648C>G
n.776C>G
c.635C>G (p.Ala212Gly)
c.-159C>G (n.-159C>G)
c.290C>G (p.Ala97Gly)
c.776C>G (p.Ala259Gly)
8g.132174285G>TCA372290138KCNQ3c.998C>A (p.Ala333Asp)
c.638C>A (p.Ala213Asp)
c.671C>A (p.Ala224Asp)
c.648C>A
n.776C>A
c.635C>A (p.Ala212Asp)
c.-159C>A (n.-159C>A)
c.290C>A (p.Ala97Asp)
c.776C>A (p.Ala259Asp)
gnomAD v4
8g.132174286C>ACA372290139KCNQ3c.997G>T (p.Ala333Ser)
c.637G>T (p.Ala213Ser)
c.670G>T (p.Ala224Ser)
c.647G>T
n.775G>T
c.634G>T (p.Ala212Ser)
c.-160G>T (n.-160G>T)
c.289G>T (p.Ala97Ser)
c.775G>T (p.Ala259Ser)
gnomAD v4
8g.132174286C=CA1820664026KCNQ3c.997G= (p.Ala333=)
c.637G= (p.Ala213=)
c.670G= (p.Ala224=)
c.647G=
n.775G=
c.634G= (p.Ala212=)
c.-160G= (n.-160G=)
c.289G= (p.Ala97=)
c.775G= (p.Ala259=)
8g.132174286C>GCA16621869KCNQ3c.997G>C (p.Ala333Pro)
c.637G>C (p.Ala213Pro)
c.670G>C (p.Ala224Pro)
c.647G>C
n.775G>C
c.634G>C (p.Ala212Pro)
c.-160G>C (n.-160G>C)
c.289G>C (p.Ala97Pro)
c.775G>C (p.Ala259Pro)
ClinVar dbSNP gnomAD v4
8g.132174286C>TCA372290140KCNQ3c.997G>A (p.Ala333Thr)
c.637G>A (p.Ala213Thr)
c.670G>A (p.Ala224Thr)
c.647G>A
n.775G>A
c.634G>A (p.Ala212Thr)
c.-160G>A (n.-160G>A)
c.289G>A (p.Ala97Thr)
c.775G>A (p.Ala259Thr)
8g.132174287A>CCA372290141KCNQ3c.996T>G (p.Ile332Met)
c.636T>G (p.Ile212Met)
c.669T>G (p.Ile223Met)
c.646T>G
n.774T>G
c.633T>G (p.Ile211Met)
c.-161T>G (n.-161T>G)
c.288T>G (p.Ile96Met)
c.774T>G (p.Ile258Met)
8g.132174287A>GCA463070287KCNQ3c.996T>C (p.Ile332=)
c.636T>C (p.Ile212=)
c.669T>C (p.Ile223=)
c.646T>C
n.774T>C
c.633T>C (p.Ile211=)
c.-161T>C (n.-161T>C)
c.288T>C (p.Ile96=)
c.774T>C (p.Ile258=)
gnomAD v4
8g.132174287A>TCA463070288KCNQ3c.996T>A (p.Ile332=)
c.636T>A (p.Ile212=)
c.669T>A (p.Ile223=)
c.646T>A
n.774T>A
c.633T>A (p.Ile211=)
c.-161T>A (n.-161T>A)
c.288T>A (p.Ile96=)
c.774T>A (p.Ile258=)
8g.132174288A>CCA372290142KCNQ3c.995T>G (p.Ile332Ser)
c.635T>G (p.Ile212Ser)
c.668T>G (p.Ile223Ser)
c.645T>G
n.773T>G
c.632T>G (p.Ile211Ser)
c.-162T>G (n.-162T>G)
c.287T>G (p.Ile96Ser)
c.773T>G (p.Ile258Ser)
8g.132174288A>GCA372290143KCNQ3c.995T>C (p.Ile332Thr)
c.635T>C (p.Ile212Thr)
c.668T>C (p.Ile223Thr)
c.645T>C
n.773T>C
c.632T>C (p.Ile211Thr)
c.-162T>C (n.-162T>C)
c.287T>C (p.Ile96Thr)
c.773T>C (p.Ile258Thr)
gnomAD v4
8g.132174288A>TCA372290144KCNQ3c.995T>A (p.Ile332Asn)
c.635T>A (p.Ile212Asn)
c.668T>A (p.Ile223Asn)
c.645T>A
n.773T>A
c.632T>A (p.Ile211Asn)
c.-162T>A (n.-162T>A)
c.287T>A (p.Ile96Asn)
c.773T>A (p.Ile258Asn)
8g.132174289T>ACA372290145KCNQ3c.994A>T (p.Ile332Phe)
c.634A>T (p.Ile212Phe)
c.667A>T (p.Ile223Phe)
c.644A>T
n.772A>T
c.631A>T (p.Ile211Phe)
c.-163A>T (n.-163A>T)
c.286A>T (p.Ile96Phe)
c.772A>T (p.Ile258Phe)
ClinVar dbSNP
8g.132174289T>CCA372290146KCNQ3c.994A>G (p.Ile332Val)
c.634A>G (p.Ile212Val)
c.667A>G (p.Ile223Val)
c.644A>G
n.772A>G
c.631A>G (p.Ile211Val)
c.-163A>G (n.-163A>G)
c.286A>G (p.Ile96Val)
c.772A>G (p.Ile258Val)
8g.132174289T>GCA372290147KCNQ3c.994A>C (p.Ile332Leu)
c.634A>C (p.Ile212Leu)
c.667A>C (p.Ile223Leu)
c.644A>C
n.772A>C
c.631A>C (p.Ile211Leu)
c.-163A>C (n.-163A>C)
c.286A>C (p.Ile96Leu)
c.772A>C (p.Ile258Leu)
8g.132174289T=CA1820664027KCNQ3c.994A= (p.Ile332=)
c.634A= (p.Ile212=)
c.667A= (p.Ile223=)
c.644A=
n.772A=
c.631A= (p.Ile211=)
c.-163A= (n.-163A=)
c.286A= (p.Ile96=)
c.772A= (p.Ile258=)
8g.132174290C>ACA463070289KCNQ3c.993G>T (p.Leu331=)
c.633G>T (p.Leu211=)
c.666G>T (p.Leu222=)
c.643G>T
n.771G>T
c.630G>T (p.Leu210=)
c.-164G>T (n.-164G>T)
c.285G>T (p.Leu95=)
c.771G>T (p.Leu257=)
gnomAD v4
8g.132174290C>GCA463070290KCNQ3c.993G>C (p.Leu331=)
c.633G>C (p.Leu211=)
c.666G>C (p.Leu222=)
c.643G>C
n.771G>C
c.630G>C (p.Leu210=)
c.-164G>C (n.-164G>C)
c.285G>C (p.Leu95=)
c.771G>C (p.Leu257=)
gnomAD v4
8g.132174290C>TCA463070291KCNQ3c.993G>A (p.Leu331=)
c.633G>A (p.Leu211=)
c.666G>A (p.Leu222=)
c.643G>A
n.771G>A
c.630G>A (p.Leu210=)
c.-164G>A (n.-164G>A)
c.285G>A (p.Leu95=)
c.771G>A (p.Leu257=)
gnomAD v4
8g.132174291A=CA1820664028KCNQ3c.992T= (p.Leu331=)
c.632T= (p.Leu211=)
c.665T= (p.Leu222=)
c.642T=
n.770T=
c.629T= (p.Leu210=)
c.-165T= (n.-165T=)
c.284T= (p.Leu95=)
c.770T= (p.Leu257=)
8g.132174291A>CCA372290148KCNQ3c.992T>G (p.Leu331Arg)
c.632T>G (p.Leu211Arg)
c.665T>G (p.Leu222Arg)
c.642T>G
n.770T>G
c.629T>G (p.Leu210Arg)
c.-165T>G (n.-165T>G)
c.284T>G (p.Leu95Arg)
c.770T>G (p.Leu257Arg)
8g.132174291A>GCA372290149KCNQ3c.992T>C (p.Leu331Pro)
c.632T>C (p.Leu211Pro)
c.665T>C (p.Leu222Pro)
c.642T>C
n.770T>C
c.629T>C (p.Leu210Pro)
c.-165T>C (n.-165T>C)
c.284T>C (p.Leu95Pro)
c.770T>C (p.Leu257Pro)
dbSNP gnomAD v3 gnomAD v4
8g.132174291A>TCA372290150KCNQ3c.992T>A (p.Leu331Gln)
c.632T>A (p.Leu211Gln)
c.665T>A (p.Leu222Gln)
c.642T>A
n.770T>A
c.629T>A (p.Leu210Gln)
c.-165T>A (n.-165T>A)
c.284T>A (p.Leu95Gln)
c.770T>A (p.Leu257Gln)
8g.132174292G>ACA463070292KCNQ3c.991C>T (p.Leu331=)
c.631C>T (p.Leu211=)
c.664C>T (p.Leu222=)
c.641C>T
n.769C>T
c.628C>T (p.Leu210=)
c.-166C>T (n.-166C>T)
c.283C>T (p.Leu95=)
c.769C>T (p.Leu257=)
8g.132174292G>CCA372290151KCNQ3c.991C>G (p.Leu331Val)
c.631C>G (p.Leu211Val)
c.664C>G (p.Leu222Val)
c.641C>G
n.769C>G
c.628C>G (p.Leu210Val)
c.-166C>G (n.-166C>G)
c.283C>G (p.Leu95Val)
c.769C>G (p.Leu257Val)
8g.132174292G>TCA372290152KCNQ3c.991C>A (p.Leu331Met)
c.631C>A (p.Leu211Met)
c.664C>A (p.Leu222Met)
c.641C>A
n.769C>A
c.628C>A (p.Leu210Met)
c.-166C>A (n.-166C>A)
c.283C>A (p.Leu95Met)
c.769C>A (p.Leu257Met)
gnomAD v4
8g.132174293A>CCA463070293KCNQ3c.990T>G (p.Arg330=)
c.630T>G (p.Arg210=)
c.663T>G (p.Arg221=)
c.640T>G
n.768T>G
c.627T>G (p.Arg209=)
c.-167T>G (n.-167T>G)
c.282T>G (p.Arg94=)
c.768T>G (p.Arg256=)
8g.132174293A>GCA463070294KCNQ3c.990T>C (p.Arg330=)
c.630T>C (p.Arg210=)
c.663T>C (p.Arg221=)
c.640T>C
n.768T>C
c.627T>C (p.Arg209=)
c.-167T>C (n.-167T>C)
c.282T>C (p.Arg94=)
c.768T>C (p.Arg256=)
8g.132174293A>TCA463070295KCNQ3c.990T>A (p.Arg330=)
c.630T>A (p.Arg210=)
c.663T>A (p.Arg221=)
c.640T>A
n.768T>A
c.627T>A (p.Arg209=)
c.-167T>A (n.-167T>A)
c.282T>A (p.Arg94=)
c.768T>A (p.Arg256=)
8g.132174294C>ACA372290155KCNQ3c.989G>T (p.Arg330Leu)
c.629G>T (p.Arg210Leu)
c.662G>T (p.Arg221Leu)
c.639G>T
n.767G>T
c.626G>T (p.Arg209Leu)
c.-168G>T (n.-168G>T)
c.281G>T (p.Arg94Leu)
c.767G>T (p.Arg256Leu)
ClinVar dbSNP
8g.132174294C=CA1820664029KCNQ3c.989G= (p.Arg330=)
c.629G= (p.Arg210=)
c.662G= (p.Arg221=)
c.639G=
n.767G=
c.626G= (p.Arg209=)
c.-168G= (n.-168G=)
c.281G= (p.Arg94=)
c.767G= (p.Arg256=)
8g.132174294C>GCA372290154KCNQ3c.989G>C (p.Arg330Pro)
c.629G>C (p.Arg210Pro)
c.662G>C (p.Arg221Pro)
c.639G>C
n.767G>C
c.626G>C (p.Arg209Pro)
c.-168G>C (n.-168G>C)
c.281G>C (p.Arg94Pro)
c.767G>C (p.Arg256Pro)
gnomAD v4
8g.132174294C>TCA372290153KCNQ3c.989G>A (p.Arg330His)
c.629G>A (p.Arg210His)
c.662G>A (p.Arg221His)
c.639G>A
n.767G>A
c.626G>A (p.Arg209His)
c.-168G>A (n.-168G>A)
c.281G>A (p.Arg94His)
c.767G>A (p.Arg256His)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.132174295G>ACA342043KCNQ3c.988C>T (p.Arg330Cys)
c.628C>T (p.Arg210Cys)
c.661C>T (p.Arg221Cys)
c.638C>T
n.766C>T
c.625C>T (p.Arg209Cys)
c.-169C>T (n.-169C>T)
c.280C>T (p.Arg94Cys)
c.766C>T (p.Arg256Cys)
ClinVar dbSNP gnomAD v4
8g.132174295G>CCA372290156KCNQ3c.988C>G (p.Arg330Gly)
c.628C>G (p.Arg210Gly)
c.661C>G (p.Arg221Gly)
c.638C>G
n.766C>G
c.625C>G (p.Arg209Gly)
c.-169C>G (n.-169C>G)
c.280C>G (p.Arg94Gly)
c.766C>G (p.Arg256Gly)
8g.132174295G=CA1820664030KCNQ3c.988C= (p.Arg330=)
c.628C= (p.Arg210=)
c.661C= (p.Arg221=)
c.638C=
n.766C=
c.625C= (p.Arg209=)
c.-169C= (n.-169C=)
c.280C= (p.Arg94=)
c.766C= (p.Arg256=)
8g.132174295G>TCA372290157KCNQ3c.988C>A (p.Arg330Ser)
c.628C>A (p.Arg210Ser)
c.661C>A (p.Arg221Ser)
c.638C>A
n.766C>A
c.625C>A (p.Arg209Ser)
c.-169C>A (n.-169C>A)
c.280C>A (p.Arg94Ser)
c.766C>A (p.Arg256Ser)
gnomAD v4
8g.132174296G>ACA463070296KCNQ3c.987C>T (p.Gly329=)
c.627C>T (p.Gly209=)
c.660C>T (p.Gly220=)
c.637C>T
n.765C>T
c.624C>T (p.Gly208=)
c.-170C>T (n.-170C>T)
c.279C>T (p.Gly93=)
c.765C>T (p.Gly255=)
gnomAD v4
8g.132174296G>CCA463070297KCNQ3c.987C>G (p.Gly329=)
c.627C>G (p.Gly209=)
c.660C>G (p.Gly220=)
c.637C>G
n.765C>G
c.624C>G (p.Gly208=)
c.-170C>G (n.-170C>G)
c.279C>G (p.Gly93=)
c.765C>G (p.Gly255=)
8g.132174296G>TCA463070298KCNQ3c.987C>A (p.Gly329=)
c.627C>A (p.Gly209=)
c.660C>A (p.Gly220=)
c.637C>A
n.765C>A
c.624C>A (p.Gly208=)
c.-170C>A (n.-170C>A)
c.279C>A (p.Gly93=)
c.765C>A (p.Gly255=)
gnomAD v4
8g.132174297C>ACA372290158KCNQ3c.986G>T (p.Gly329Val)
c.626G>T (p.Gly209Val)
c.659G>T (p.Gly220Val)
c.636G>T
n.764G>T
c.623G>T (p.Gly208Val)
c.-171G>T (n.-171G>T)
c.278G>T (p.Gly93Val)
c.764G>T (p.Gly255Val)
gnomAD v4
8g.132174297C>GCA372290159KCNQ3c.986G>C (p.Gly329Ala)
c.626G>C (p.Gly209Ala)
c.659G>C (p.Gly220Ala)
c.636G>C
n.764G>C
c.623G>C (p.Gly208Ala)
c.-171G>C (n.-171G>C)
c.278G>C (p.Gly93Ala)
c.764G>C (p.Gly255Ala)
8g.132174297C>TCA372290160KCNQ3c.986G>A (p.Gly329Asp)
c.626G>A (p.Gly209Asp)
c.659G>A (p.Gly220Asp)
c.636G>A
n.764G>A
c.623G>A (p.Gly208Asp)
c.-171G>A (n.-171G>A)
c.278G>A (p.Gly93Asp)
c.764G>A (p.Gly255Asp)
gnomAD v4
8g.132174298C>ACA372290163KCNQ3c.985G>T (p.Gly329Cys)
c.625G>T (p.Gly209Cys)
c.658G>T (p.Gly220Cys)
c.635G>T
n.763G>T
c.622G>T (p.Gly208Cys)
c.-172G>T (n.-172G>T)
c.277G>T (p.Gly93Cys)
c.763G>T (p.Gly255Cys)
gnomAD v4
8g.132174298C=CA1820664031KCNQ3c.985G= (p.Gly329=)
c.625G= (p.Gly209=)
c.658G= (p.Gly220=)
c.635G=
n.763G=
c.622G= (p.Gly208=)
c.-172G= (n.-172G=)
c.277G= (p.Gly93=)
c.763G= (p.Gly255=)
8g.132174298C>GCA372290161KCNQ3c.985G>C (p.Gly329Arg)
c.625G>C (p.Gly209Arg)
c.658G>C (p.Gly220Arg)
c.635G>C
n.763G>C
c.622G>C (p.Gly208Arg)
c.-172G>C (n.-172G>C)
c.277G>C (p.Gly93Arg)
c.763G>C (p.Gly255Arg)
8g.132174298C>TCA372290162KCNQ3c.985G>A (p.Gly329Ser)
c.625G>A (p.Gly209Ser)
c.658G>A (p.Gly220Ser)
c.635G>A
n.763G>A
c.622G>A (p.Gly208Ser)
c.-172G>A (n.-172G>A)
c.277G>A (p.Gly93Ser)
c.763G>A (p.Gly255Ser)
dbSNP gnomAD v2 gnomAD v4
8g.132174299T>ACA372290164KCNQ3c.984A>T (p.Glu328Asp)
c.624A>T (p.Glu208Asp)
c.657A>T (p.Glu219Asp)
c.634A>T
n.762A>T
c.621A>T (p.Glu207Asp)
c.-173A>T (n.-173A>T)
c.276A>T (p.Glu92Asp)
c.762A>T (p.Glu254Asp)
8g.132174299T>CCA463070299KCNQ3c.984A>G (p.Glu328=)
c.624A>G (p.Glu208=)
c.657A>G (p.Glu219=)
c.634A>G
n.762A>G
c.621A>G (p.Glu207=)
c.-173A>G (n.-173A>G)
c.276A>G (p.Glu92=)
c.762A>G (p.Glu254=)
8g.132174299T>GCA372290165KCNQ3c.984A>C (p.Glu328Asp)
c.624A>C (p.Glu208Asp)
c.657A>C (p.Glu219Asp)
c.634A>C
n.762A>C
c.621A>C (p.Glu207Asp)
c.-173A>C (n.-173A>C)
c.276A>C (p.Glu92Asp)
c.762A>C (p.Glu254Asp)
8g.132174300T>ACA372290166KCNQ3c.983A>T (p.Glu328Val)
c.623A>T (p.Glu208Val)
c.656A>T (p.Glu219Val)
c.633A>T
n.761A>T
c.620A>T (p.Glu207Val)
c.-174A>T (n.-174A>T)
c.275A>T (p.Glu92Val)
c.761A>T (p.Glu254Val)
8g.132174300T>CCA372290167KCNQ3c.983A>G (p.Glu328Gly)
c.623A>G (p.Glu208Gly)
c.656A>G (p.Glu219Gly)
c.633A>G
n.761A>G
c.620A>G (p.Glu207Gly)
c.-174A>G (n.-174A>G)
c.275A>G (p.Glu92Gly)
c.761A>G (p.Glu254Gly)
gnomAD v4
8g.132174300T>GCA372290168KCNQ3c.983A>C (p.Glu328Ala)
c.623A>C (p.Glu208Ala)
c.656A>C (p.Glu219Ala)
c.633A>C
n.761A>C
c.620A>C (p.Glu207Ala)
c.-174A>C (n.-174A>C)
c.275A>C (p.Glu92Ala)
c.761A>C (p.Glu254Ala)
8g.132174301C>ACA372290169KCNQ3c.982G>T (p.Glu328Ter)
c.622G>T (p.Glu208Ter)
c.655G>T (p.Glu219Ter)
c.632G>T
n.760G>T
c.619G>T (p.Glu207Ter)
c.-175G>T (n.-175G>T)
c.274G>T (p.Glu92Ter)
c.760G>T (p.Glu254Ter)
gnomAD v4
8g.132174301C>GCA372290171KCNQ3c.982G>C (p.Glu328Gln)
c.622G>C (p.Glu208Gln)
c.655G>C (p.Glu219Gln)
c.632G>C
n.760G>C
c.619G>C (p.Glu207Gln)
c.-175G>C (n.-175G>C)
c.274G>C (p.Glu92Gln)
c.760G>C (p.Glu254Gln)
8g.132174301C>TCA372290170KCNQ3c.982G>A (p.Glu328Lys)
c.622G>A (p.Glu208Lys)
c.655G>A (p.Glu219Lys)
c.632G>A
n.760G>A
c.619G>A (p.Glu207Lys)
c.-175G>A (n.-175G>A)
c.274G>A (p.Glu92Lys)
c.760G>A (p.Glu254Lys)
gnomAD v4
8g.132174303delCA2688627208KCNQ3c.982del (p.Glu328LysfsTer4)
c.622del (p.Glu208LysfsTer4)
c.655del (p.Glu219LysfsTer4)
c.632del
n.760del
c.619del (p.Glu207LysfsTer4)
c.-175del (n.-175del)
c.274del (p.Glu92LysfsTer4)
c.760del (p.Glu254LysfsTer4)
gnomAD v4
8g.132174302_132174303delCA2688627209KCNQ3c.981_982del (p.Trp327Ter)
c.621_622del (p.Trp207Ter)
c.654_655del (p.Trp218Ter)
c.631_632del
n.759_760del
c.618_619del (p.Trp206Ter)
c.-176_-175del (n.-176_-175del)
c.273_274del (p.Trp91Ter)
c.759_760del (p.Trp253Ter)
gnomAD v4
8g.132174302C>ACA372290172KCNQ3c.981G>T (p.Trp327Cys)
c.621G>T (p.Trp207Cys)
c.654G>T (p.Trp218Cys)
c.631G>T
n.759G>T
c.618G>T (p.Trp206Cys)
c.-176G>T (n.-176G>T)
c.273G>T (p.Trp91Cys)
c.759G>T (p.Trp253Cys)
gnomAD v4
8g.132174302C>GCA372290173KCNQ3c.981G>C (p.Trp327Cys)
c.621G>C (p.Trp207Cys)
c.654G>C (p.Trp218Cys)
c.631G>C
n.759G>C
c.618G>C (p.Trp206Cys)
c.-176G>C (n.-176G>C)
c.273G>C (p.Trp91Cys)
c.759G>C (p.Trp253Cys)
8g.132174302C>TCA372290174KCNQ3c.981G>A (p.Trp327Ter)
c.621G>A (p.Trp207Ter)
c.654G>A (p.Trp218Ter)
c.631G>A
n.759G>A
c.618G>A (p.Trp206Ter)
c.-176G>A (n.-176G>A)
c.273G>A (p.Trp91Ter)
c.759G>A (p.Trp253Ter)
gnomAD v4 COSMIC
8g.132174303C>ACA372290175KCNQ3c.980G>T (p.Trp327Leu)
c.620G>T (p.Trp207Leu)
c.653G>T (p.Trp218Leu)
c.630G>T
n.758G>T
c.617G>T (p.Trp206Leu)
c.-177G>T (n.-177G>T)
c.272G>T (p.Trp91Leu)
c.758G>T (p.Trp253Leu)
gnomAD v4
8g.132174303C>GCA372290176KCNQ3c.980G>C (p.Trp327Ser)
c.620G>C (p.Trp207Ser)
c.653G>C (p.Trp218Ser)
c.630G>C
n.758G>C
c.617G>C (p.Trp206Ser)
c.-177G>C (n.-177G>C)
c.272G>C (p.Trp91Ser)
c.758G>C (p.Trp253Ser)
8g.132174303C>TCA372290177KCNQ3c.980G>A (p.Trp327Ter)
c.620G>A (p.Trp207Ter)
c.653G>A (p.Trp218Ter)
c.630G>A
n.758G>A
c.617G>A (p.Trp206Ter)
c.-177G>A (n.-177G>A)
c.272G>A (p.Trp91Ter)
c.758G>A (p.Trp253Ter)
8g.132174304A>CCA372290178KCNQ3c.979T>G (p.Trp327Gly)
c.619T>G (p.Trp207Gly)
c.652T>G (p.Trp218Gly)
c.629T>G
n.757T>G
c.616T>G (p.Trp206Gly)
c.-178T>G (n.-178T>G)
c.271T>G (p.Trp91Gly)
c.757T>G (p.Trp253Gly)
8g.132174304A>GCA372290179KCNQ3c.979T>C (p.Trp327Arg)
c.619T>C (p.Trp207Arg)
c.652T>C (p.Trp218Arg)
c.629T>C
n.757T>C
c.616T>C (p.Trp206Arg)
c.-178T>C (n.-178T>C)
c.271T>C (p.Trp91Arg)
c.757T>C (p.Trp253Arg)
8g.132174304A>TCA372290180KCNQ3c.979T>A (p.Trp327Arg)
c.619T>A (p.Trp207Arg)
c.652T>A (p.Trp218Arg)
c.629T>A
n.757T>A
c.616T>A (p.Trp206Arg)
c.-178T>A (n.-178T>A)
c.271T>A (p.Trp91Arg)
c.757T>A (p.Trp253Arg)
8g.132174305C>ACA463070300KCNQ3c.978G>T (p.Thr326=)
c.618G>T (p.Thr206=)
c.651G>T (p.Thr217=)
c.628G>T
n.756G>T
c.615G>T (p.Thr205=)
c.-179G>T (n.-179G>T)
c.270G>T (p.Thr90=)
c.756G>T (p.Thr252=)
gnomAD v4 COSMIC
8g.132174305C=CA1820664032KCNQ3c.978G= (p.Thr326=)
c.618G= (p.Thr206=)
c.651G= (p.Thr217=)
c.628G=
n.756G=
c.615G= (p.Thr205=)
c.-179G= (n.-179G=)
c.270G= (p.Thr90=)
c.756G= (p.Thr252=)
8g.132174305C>GCA463070301KCNQ3c.978G>C (p.Thr326=)
c.618G>C (p.Thr206=)
c.651G>C (p.Thr217=)
c.628G>C
n.756G>C
c.615G>C (p.Thr205=)
c.-179G>C (n.-179G>C)
c.270G>C (p.Thr90=)
c.756G>C (p.Thr252=)
8g.132174305C>TCA4880804KCNQ3c.978G>A (p.Thr326=)
c.618G>A (p.Thr206=)
c.651G>A (p.Thr217=)
c.628G>A
n.756G>A
c.615G>A (p.Thr205=)
c.-179G>A (n.-179G>A)
c.270G>A (p.Thr90=)
c.756G>A (p.Thr252=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132174306G>ACA372290183KCNQ3c.977C>T (p.Thr326Met)
c.617C>T (p.Thr206Met)
c.650C>T (p.Thr217Met)
c.627C>T
n.755C>T
c.614C>T (p.Thr205Met)
c.-180C>T (n.-180C>T)
c.269C>T (p.Thr90Met)
c.755C>T (p.Thr252Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132174306G>CCA372290182KCNQ3c.977C>G (p.Thr326Arg)
c.617C>G (p.Thr206Arg)
c.650C>G (p.Thr217Arg)
c.627C>G
n.755C>G
c.614C>G (p.Thr205Arg)
c.-180C>G (n.-180C>G)
c.269C>G (p.Thr90Arg)
c.755C>G (p.Thr252Arg)
8g.132174306G=CA1820664033KCNQ3c.977C= (p.Thr326=)
c.617C= (p.Thr206=)
c.650C= (p.Thr217=)
c.627C=
n.755C=
c.614C= (p.Thr205=)
c.-180C= (n.-180C=)
c.269C= (p.Thr90=)
c.755C= (p.Thr252=)
8g.132174306G>TCA372290181KCNQ3c.977C>A (p.Thr326Lys)
c.617C>A (p.Thr206Lys)
c.650C>A (p.Thr217Lys)
c.627C>A
n.755C>A
c.614C>A (p.Thr205Lys)
c.-180C>A (n.-180C>A)
c.269C>A (p.Thr90Lys)
c.755C>A (p.Thr252Lys)
ClinVar dbSNP gnomAD v4
8g.132174307T>ACA372290184KCNQ3c.976A>T (p.Thr326Ser)
c.616A>T (p.Thr206Ser)
c.649A>T (p.Thr217Ser)
c.626A>T
n.754A>T
c.613A>T (p.Thr205Ser)
c.-181A>T (n.-181A>T)
c.268A>T (p.Thr90Ser)
c.754A>T (p.Thr252Ser)
8g.132174307T>CCA372290186KCNQ3c.976A>G (p.Thr326Ala)
c.616A>G (p.Thr206Ala)
c.649A>G (p.Thr217Ala)
c.626A>G
n.754A>G
c.613A>G (p.Thr205Ala)
c.-181A>G (n.-181A>G)
c.268A>G (p.Thr90Ala)
c.754A>G (p.Thr252Ala)
gnomAD v4
8g.132174307T>GCA372290185KCNQ3c.976A>C (p.Thr326Pro)
c.616A>C (p.Thr206Pro)
c.649A>C (p.Thr217Pro)
c.626A>C
n.754A>C
c.613A>C (p.Thr205Pro)
c.-181A>C (n.-181A>C)
c.268A>C (p.Thr90Pro)
c.754A>C (p.Thr252Pro)
8g.132174308T>ACA372290187KCNQ3c.975A>T (p.Lys325Asn)
c.615A>T (p.Lys205Asn)
c.648A>T (p.Lys216Asn)
c.625A>T
n.753A>T
c.612A>T (p.Lys204Asn)
c.-182A>T (n.-182A>T)
c.267A>T (p.Lys89Asn)
c.753A>T (p.Lys251Asn)
8g.132174308T>CCA463070302KCNQ3c.975A>G (p.Lys325=)
c.615A>G (p.Lys205=)
c.648A>G (p.Lys216=)
c.625A>G
n.753A>G
c.612A>G (p.Lys204=)
c.-182A>G (n.-182A>G)
c.267A>G (p.Lys89=)
c.753A>G (p.Lys251=)
8g.132174308T>GCA372290188KCNQ3c.975A>C (p.Lys325Asn)
c.615A>C (p.Lys205Asn)
c.648A>C (p.Lys216Asn)
c.625A>C
n.753A>C
c.612A>C (p.Lys204Asn)
c.-182A>C (n.-182A>C)
c.267A>C (p.Lys89Asn)
c.753A>C (p.Lys251Asn)
8g.132174309T>ACA372290189KCNQ3c.974A>T (p.Lys325Ile)
c.614A>T (p.Lys205Ile)
c.647A>T (p.Lys216Ile)
c.624A>T
n.752A>T
c.611A>T (p.Lys204Ile)
c.-183A>T (n.-183A>T)
c.266A>T (p.Lys89Ile)
c.752A>T (p.Lys251Ile)
8g.132174309T>CCA372290190KCNQ3c.974A>G (p.Lys325Arg)
c.614A>G (p.Lys205Arg)
c.647A>G (p.Lys216Arg)
c.624A>G
n.752A>G
c.611A>G (p.Lys204Arg)
c.-183A>G (n.-183A>G)
c.266A>G (p.Lys89Arg)
c.752A>G (p.Lys251Arg)
8g.132174309T>GCA372290191KCNQ3c.974A>C (p.Lys325Thr)
c.614A>C (p.Lys205Thr)
c.647A>C (p.Lys216Thr)
c.624A>C
n.752A>C
c.611A>C (p.Lys204Thr)
c.-183A>C (n.-183A>C)
c.266A>C (p.Lys89Thr)
c.752A>C (p.Lys251Thr)
8g.132174310T>ACA372290192KCNQ3c.973A>T (p.Lys325Ter)
c.613A>T (p.Lys205Ter)
c.646A>T (p.Lys216Ter)
c.623A>T
n.751A>T
c.610A>T (p.Lys204Ter)
c.-184A>T (n.-184A>T)
c.265A>T (p.Lys89Ter)
c.751A>T (p.Lys251Ter)
8g.132174310T>CCA372290193KCNQ3c.973A>G (p.Lys325Glu)
c.613A>G (p.Lys205Glu)
c.646A>G (p.Lys216Glu)
c.623A>G
n.751A>G
c.610A>G (p.Lys204Glu)
c.-184A>G (n.-184A>G)
c.265A>G (p.Lys89Glu)
c.751A>G (p.Lys251Glu)
8g.132174310T>GCA372290194KCNQ3c.973A>C (p.Lys325Gln)
c.613A>C (p.Lys205Gln)
c.646A>C (p.Lys216Gln)
c.623A>C
n.751A>C
c.610A>C (p.Lys204Gln)
c.-184A>C (n.-184A>C)
c.265A>C (p.Lys89Gln)
c.751A>C (p.Lys251Gln)
8g.132174311G>ACA463070303KCNQ3c.972C>T (p.Pro324=)
c.612C>T (p.Pro204=)
c.645C>T (p.Pro215=)
c.622C>T
n.750C>T
c.609C>T (p.Pro203=)
c.-185C>T (n.-185C>T)
c.264C>T (p.Pro88=)
c.750C>T (p.Pro250=)
gnomAD v4
8g.132174311G>CCA463070304KCNQ3c.972C>G (p.Pro324=)
c.612C>G (p.Pro204=)
c.645C>G (p.Pro215=)
c.622C>G
n.750C>G
c.609C>G (p.Pro203=)
c.-185C>G (n.-185C>G)
c.264C>G (p.Pro88=)
c.750C>G (p.Pro250=)
8g.132174311G>TCA463070305KCNQ3c.972C>A (p.Pro324=)
c.612C>A (p.Pro204=)
c.645C>A (p.Pro215=)
c.622C>A
n.750C>A
c.609C>A (p.Pro203=)
c.-185C>A (n.-185C>A)
c.264C>A (p.Pro88=)
c.750C>A (p.Pro250=)
gnomAD v4
8g.132174312G>ACA372290195KCNQ3c.971C>T (p.Pro324Leu)
c.611C>T (p.Pro204Leu)
c.644C>T (p.Pro215Leu)
c.621C>T
n.749C>T
c.608C>T (p.Pro203Leu)
c.-186C>T (n.-186C>T)
c.263C>T (p.Pro88Leu)
c.749C>T (p.Pro250Leu)
ClinVar gnomAD v4
8g.132174312G>CCA372290196KCNQ3c.971C>G (p.Pro324Arg)
c.611C>G (p.Pro204Arg)
c.644C>G (p.Pro215Arg)
c.621C>G
n.749C>G
c.608C>G (p.Pro203Arg)
c.-186C>G (n.-186C>G)
c.263C>G (p.Pro88Arg)
c.749C>G (p.Pro250Arg)
8g.132174312G>TCA372290197KCNQ3c.971C>A (p.Pro324His)
c.611C>A (p.Pro204His)
c.644C>A (p.Pro215His)
c.621C>A
n.749C>A
c.608C>A (p.Pro203His)
c.-186C>A (n.-186C>A)
c.263C>A (p.Pro88His)
c.749C>A (p.Pro250His)
gnomAD v4
8g.132174313G>ACA372290200KCNQ3c.970C>T (p.Pro324Ser)
c.610C>T (p.Pro204Ser)
c.643C>T (p.Pro215Ser)
c.620C>T
n.748C>T
c.607C>T (p.Pro203Ser)
c.-187C>T (n.-187C>T)
c.262C>T (p.Pro88Ser)
c.748C>T (p.Pro250Ser)
gnomAD v4
8g.132174313G>CCA372290198KCNQ3c.970C>G (p.Pro324Ala)
c.610C>G (p.Pro204Ala)
c.643C>G (p.Pro215Ala)
c.620C>G
n.748C>G
c.607C>G (p.Pro203Ala)
c.-187C>G (n.-187C>G)
c.262C>G (p.Pro88Ala)
c.748C>G (p.Pro250Ala)
ClinVar dbSNP
8g.132174313G=CA1820664034KCNQ3c.970C= (p.Pro324=)
c.610C= (p.Pro204=)
c.643C= (p.Pro215=)
c.620C=
n.748C=
c.607C= (p.Pro203=)
c.-187C= (n.-187C=)
c.262C= (p.Pro88=)
c.748C= (p.Pro250=)
8g.132174313G>TCA372290199KCNQ3c.970C>A (p.Pro324Thr)
c.610C>A (p.Pro204Thr)
c.643C>A (p.Pro215Thr)
c.620C>A
n.748C>A
c.607C>A (p.Pro203Thr)
c.-187C>A (n.-187C>A)
c.262C>A (p.Pro88Thr)
c.748C>A (p.Pro250Thr)
8g.132174314T>ACA463070308KCNQ3c.969A>T (p.Thr323=)
c.609A>T (p.Thr203=)
c.642A>T (p.Thr214=)
c.619A>T
n.747A>T
c.606A>T (p.Thr202=)
c.-188A>T (n.-188A>T)
c.261A>T (p.Thr87=)
c.747A>T (p.Thr249=)
8g.132174314T>CCA463070306KCNQ3c.969A>G (p.Thr323=)
c.609A>G (p.Thr203=)
c.642A>G (p.Thr214=)
c.619A>G
n.747A>G
c.606A>G (p.Thr202=)
c.-188A>G (n.-188A>G)
c.261A>G (p.Thr87=)
c.747A>G (p.Thr249=)
gnomAD v4
8g.132174314T>GCA463070307KCNQ3c.969A>C (p.Thr323=)
c.609A>C (p.Thr203=)
c.642A>C (p.Thr214=)
c.619A>C
n.747A>C
c.606A>C (p.Thr202=)
c.-188A>C (n.-188A>C)
c.261A>C (p.Thr87=)
c.747A>C (p.Thr249=)
8g.132174315G>ACA372290201KCNQ3c.968C>T (p.Thr323Ile)
c.608C>T (p.Thr203Ile)
c.641C>T (p.Thr214Ile)
c.618C>T
n.746C>T
c.605C>T (p.Thr202Ile)
c.-189C>T (n.-189C>T)
c.260C>T (p.Thr87Ile)
c.746C>T (p.Thr249Ile)
gnomAD v4
8g.132174315G>CCA372290202KCNQ3c.968C>G (p.Thr323Arg)
c.608C>G (p.Thr203Arg)
c.641C>G (p.Thr214Arg)
c.618C>G
n.746C>G
c.605C>G (p.Thr202Arg)
c.-189C>G (n.-189C>G)
c.260C>G (p.Thr87Arg)
c.746C>G (p.Thr249Arg)
gnomAD v4
8g.132174315G>TCA372290203KCNQ3c.968C>A (p.Thr323Lys)
c.608C>A (p.Thr203Lys)
c.641C>A (p.Thr214Lys)
c.618C>A
n.746C>A
c.605C>A (p.Thr202Lys)
c.-189C>A (n.-189C>A)
c.260C>A (p.Thr87Lys)
c.746C>A (p.Thr249Lys)
gnomAD v4
8g.132174316T>ACA372290204KCNQ3c.967A>T (p.Thr323Ser)
c.607A>T (p.Thr203Ser)
c.640A>T (p.Thr214Ser)
c.617A>T
n.745A>T
c.604A>T (p.Thr202Ser)
c.-190A>T (n.-190A>T)
c.259A>T (p.Thr87Ser)
c.745A>T (p.Thr249Ser)
8g.132174316T>CCA372290205KCNQ3c.967A>G (p.Thr323Ala)
c.607A>G (p.Thr203Ala)
c.640A>G (p.Thr214Ala)
c.617A>G
n.745A>G
c.604A>G (p.Thr202Ala)
c.-190A>G (n.-190A>G)
c.259A>G (p.Thr87Ala)
c.745A>G (p.Thr249Ala)
8g.132174316T>GCA372290206KCNQ3c.967A>C (p.Thr323Pro)
c.607A>C (p.Thr203Pro)
c.640A>C (p.Thr214Pro)
c.617A>C
n.745A>C
c.604A>C (p.Thr202Pro)
c.-190A>C (n.-190A>C)
c.259A>C (p.Thr87Pro)
c.745A>C (p.Thr249Pro)
8g.132174317C>ACA372290207KCNQ3c.966G>T (p.Lys322Asn)
c.606G>T (p.Lys202Asn)
c.639G>T (p.Lys213Asn)
c.616G>T
n.744G>T
c.603G>T (p.Lys201Asn)
c.-191G>T (n.-191G>T)
c.258G>T (p.Lys86Asn)
c.744G>T (p.Lys248Asn)
gnomAD v4
8g.132174317C>GCA372290208KCNQ3c.966G>C (p.Lys322Asn)
c.606G>C (p.Lys202Asn)
c.639G>C (p.Lys213Asn)
c.616G>C
n.744G>C
c.603G>C (p.Lys201Asn)
c.-191G>C (n.-191G>C)
c.258G>C (p.Lys86Asn)
c.744G>C (p.Lys248Asn)
8g.132174317C>TCA463070309KCNQ3c.966G>A (p.Lys322=)
c.606G>A (p.Lys202=)
c.639G>A (p.Lys213=)
c.616G>A
n.744G>A
c.603G>A (p.Lys201=)
c.-191G>A (n.-191G>A)
c.258G>A (p.Lys86=)
c.744G>A (p.Lys248=)
gnomAD v4
8g.132174318T>ACA372290209KCNQ3c.965A>T (p.Lys322Met)
c.605A>T (p.Lys202Met)
c.638A>T (p.Lys213Met)
c.615A>T
n.743A>T
c.602A>T (p.Lys201Met)
c.-192A>T (n.-192A>T)
c.257A>T (p.Lys86Met)
c.743A>T (p.Lys248Met)
8g.132174318T>CCA372290210KCNQ3c.965A>G (p.Lys322Arg)
c.605A>G (p.Lys202Arg)
c.638A>G (p.Lys213Arg)
c.615A>G
n.743A>G
c.602A>G (p.Lys201Arg)
c.-192A>G (n.-192A>G)
c.257A>G (p.Lys86Arg)
c.743A>G (p.Lys248Arg)
8g.132174318T>GCA372290211KCNQ3c.965A>C (p.Lys322Thr)
c.605A>C (p.Lys202Thr)
c.638A>C (p.Lys213Thr)
c.615A>C
n.743A>C
c.602A>C (p.Lys201Thr)
c.-192A>C (n.-192A>C)
c.257A>C (p.Lys86Thr)
c.743A>C (p.Lys248Thr)

Number of alleles fetched