Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132175417A>GCA2688627386KCNQ3c.933+36T>C (n.933+36T>C)
c.573+36T>C (n.573+36T>C)
c.606+36T>C (n.606+36T>C)
c.583+36T>C
n.711+36T>C
c.570+36T>C (n.570+36T>C)
c.-224+36T>C (n.-224+36T>C)
c.225+36T>C (n.225+36T>C)
c.711+36T>C (n.711+36T>C)
 gnomAD v4
8g.132175418A>GCA2688627387KCNQ3c.933+35T>C (n.933+35T>C)
c.573+35T>C (n.573+35T>C)
c.606+35T>C (n.606+35T>C)
c.583+35T>C
n.711+35T>C
c.570+35T>C (n.570+35T>C)
c.-224+35T>C (n.-224+35T>C)
c.225+35T>C (n.225+35T>C)
c.711+35T>C (n.711+35T>C)
 gnomAD v4
8g.132175418A>TCA2507990164KCNQ3c.933+35T>A (n.933+35T>A)
c.573+35T>A (n.573+35T>A)
c.606+35T>A (n.606+35T>A)
c.583+35T>A
n.711+35T>A
c.570+35T>A (n.570+35T>A)
c.-224+35T>A (n.-224+35T>A)
c.225+35T>A (n.225+35T>A)
c.711+35T>A (n.711+35T>A)
8g.132175420C>ACA2782246929KCNQ3c.933+33G>T (n.933+33G>T)
c.573+33G>T (n.573+33G>T)
c.606+33G>T (n.606+33G>T)
c.583+33G>T
n.711+33G>T
c.570+33G>T (n.570+33G>T)
c.-224+33G>T (n.-224+33G>T)
c.225+33G>T (n.225+33G>T)
c.711+33G>T (n.711+33G>T)
8g.132175420C>TCA2688627388KCNQ3c.933+33G>A (n.933+33G>A)
c.573+33G>A (n.573+33G>A)
c.606+33G>A (n.606+33G>A)
c.583+33G>A
n.711+33G>A
c.570+33G>A (n.570+33G>A)
c.-224+33G>A (n.-224+33G>A)
c.225+33G>A (n.225+33G>A)
c.711+33G>A (n.711+33G>A)
 gnomAD v4
8g.132175421T>CCA4880813KCNQ3c.933+32A>G (n.933+32A>G)
c.573+32A>G (n.573+32A>G)
c.606+32A>G (n.606+32A>G)
c.583+32A>G
n.711+32A>G
c.570+32A>G (n.570+32A>G)
c.-224+32A>G (n.-224+32A>G)
c.225+32A>G (n.225+32A>G)
c.711+32A>G (n.711+32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132175421T=CA1820664498KCNQ3c.933+32A= (n.933+32A=)
c.573+32A= (n.573+32A=)
c.606+32A= (n.606+32A=)
c.583+32A=
n.711+32A=
c.570+32A= (n.570+32A=)
c.-224+32A= (n.-224+32A=)
c.225+32A= (n.225+32A=)
c.711+32A= (n.711+32A=)
8g.132175422C>ACA585279325KCNQ3c.933+31G>T (n.933+31G>T)
c.573+31G>T (n.573+31G>T)
c.606+31G>T (n.606+31G>T)
c.583+31G>T
n.711+31G>T
c.570+31G>T (n.570+31G>T)
c.-224+31G>T (n.-224+31G>T)
c.225+31G>T (n.225+31G>T)
c.711+31G>T (n.711+31G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132175422C=CA1820664499KCNQ3c.933+31G= (n.933+31G=)
c.573+31G= (n.573+31G=)
c.606+31G= (n.606+31G=)
c.583+31G=
n.711+31G=
c.570+31G= (n.570+31G=)
c.-224+31G= (n.-224+31G=)
c.225+31G= (n.225+31G=)
c.711+31G= (n.711+31G=)
8g.132175424C>ACA585279326KCNQ3c.933+29G>T (n.933+29G>T)
c.573+29G>T (n.573+29G>T)
c.606+29G>T (n.606+29G>T)
c.583+29G>T
n.711+29G>T
c.570+29G>T (n.570+29G>T)
c.-224+29G>T (n.-224+29G>T)
c.225+29G>T (n.225+29G>T)
c.711+29G>T (n.711+29G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.132175424C=CA1820664500KCNQ3c.933+29G= (n.933+29G=)
c.573+29G= (n.573+29G=)
c.606+29G= (n.606+29G=)
c.583+29G=
n.711+29G=
c.570+29G= (n.570+29G=)
c.-224+29G= (n.-224+29G=)
c.225+29G= (n.225+29G=)
c.711+29G= (n.711+29G=)
8g.132175424C>TCA2579251722KCNQ3c.933+29G>A (n.933+29G>A)
c.573+29G>A (n.573+29G>A)
c.606+29G>A (n.606+29G>A)
c.583+29G>A
n.711+29G>A
c.570+29G>A (n.570+29G>A)
c.-224+29G>A (n.-224+29G>A)
c.225+29G>A (n.225+29G>A)
c.711+29G>A (n.711+29G>A)
8g.132175427A>GCA2579251723KCNQ3c.933+26T>C (n.933+26T>C)
c.573+26T>C (n.573+26T>C)
c.606+26T>C (n.606+26T>C)
c.583+26T>C
n.711+26T>C
c.570+26T>C (n.570+26T>C)
c.-224+26T>C (n.-224+26T>C)
c.225+26T>C (n.225+26T>C)
c.711+26T>C (n.711+26T>C)
8g.132175427A>TCA2604844584KCNQ3c.933+26T>A (n.933+26T>A)
c.573+26T>A (n.573+26T>A)
c.606+26T>A (n.606+26T>A)
c.583+26T>A
n.711+26T>A
c.570+26T>A (n.570+26T>A)
c.-224+26T>A (n.-224+26T>A)
c.225+26T>A (n.225+26T>A)
c.711+26T>A (n.711+26T>A)
 dbSNP gnomAD v3 gnomAD v4
8g.132175428A=CA1630835218KCNQ3c.933+25T= (n.933+25T=)
c.573+25T= (n.573+25T=)
c.606+25T= (n.606+25T=)
c.583+25T=
n.711+25T=
c.570+25T= (n.570+25T=)
c.-224+25T= (n.-224+25T=)
c.225+25T= (n.225+25T=)
c.711+25T= (n.711+25T=)
8g.132175428A>CCA2580849543KCNQ3c.933+25T>G (n.933+25T>G)
c.573+25T>G (n.573+25T>G)
c.606+25T>G (n.606+25T>G)
c.583+25T>G
n.711+25T>G
c.570+25T>G (n.570+25T>G)
c.-224+25T>G (n.-224+25T>G)
c.225+25T>G (n.225+25T>G)
c.711+25T>G (n.711+25T>G)
8g.132175428A>GCA4880814KCNQ3c.933+25T>C (n.933+25T>C)
c.573+25T>C (n.573+25T>C)
c.606+25T>C (n.606+25T>C)
c.583+25T>C
n.711+25T>C
c.570+25T>C (n.570+25T>C)
c.-224+25T>C (n.-224+25T>C)
c.225+25T>C (n.225+25T>C)
c.711+25T>C (n.711+25T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132175428A>TCA2580849544KCNQ3c.933+25T>A (n.933+25T>A)
c.573+25T>A (n.573+25T>A)
c.606+25T>A (n.606+25T>A)
c.583+25T>A
n.711+25T>A
c.570+25T>A (n.570+25T>A)
c.-224+25T>A (n.-224+25T>A)
c.225+25T>A (n.225+25T>A)
c.711+25T>A (n.711+25T>A)
8g.132175429T>CCA2782246933KCNQ3c.933+24A>G (n.933+24A>G)
c.573+24A>G (n.573+24A>G)
c.606+24A>G (n.606+24A>G)
c.583+24A>G
n.711+24A>G
c.570+24A>G (n.570+24A>G)
c.-224+24A>G (n.-224+24A>G)
c.225+24A>G (n.225+24A>G)
c.711+24A>G (n.711+24A>G)
8g.132175431G=CA1820664501KCNQ3c.933+22C= (n.933+22C=)
c.573+22C= (n.573+22C=)
c.606+22C= (n.606+22C=)
c.583+22C=
n.711+22C=
c.570+22C= (n.570+22C=)
c.-224+22C= (n.-224+22C=)
c.225+22C= (n.225+22C=)
c.711+22C= (n.711+22C=)
8g.132175431G>TCA1820664502KCNQ3c.933+22C>A (n.933+22C>A)
c.573+22C>A (n.573+22C>A)
c.606+22C>A (n.606+22C>A)
c.583+22C>A
n.711+22C>A
c.570+22C>A (n.570+22C>A)
c.-224+22C>A (n.-224+22C>A)
c.225+22C>A (n.225+22C>A)
c.711+22C>A (n.711+22C>A)
 dbSNP gnomAD v4
8g.132175432G>ACA2688627389KCNQ3c.933+21C>T (n.933+21C>T)
c.573+21C>T (n.573+21C>T)
c.606+21C>T (n.606+21C>T)
c.583+21C>T
n.711+21C>T
c.570+21C>T (n.570+21C>T)
c.-224+21C>T (n.-224+21C>T)
c.225+21C>T (n.225+21C>T)
c.711+21C>T (n.711+21C>T)
 gnomAD v4
8g.132175433C>TCA2782246935KCNQ3c.933+20G>A (n.933+20G>A)
c.573+20G>A (n.573+20G>A)
c.606+20G>A (n.606+20G>A)
c.583+20G>A
n.711+20G>A
c.570+20G>A (n.570+20G>A)
c.-224+20G>A (n.-224+20G>A)
c.225+20G>A (n.225+20G>A)
c.711+20G>A (n.711+20G>A)
8g.132175434C=CA1820664503KCNQ3c.933+19G= (n.933+19G=)
c.573+19G= (n.573+19G=)
c.606+19G= (n.606+19G=)
c.583+19G=
n.711+19G=
c.570+19G= (n.570+19G=)
c.-224+19G= (n.-224+19G=)
c.225+19G= (n.225+19G=)
c.711+19G= (n.711+19G=)
8g.132175434C>TCA585279327KCNQ3c.933+19G>A (n.933+19G>A)
c.573+19G>A (n.573+19G>A)
c.606+19G>A (n.606+19G>A)
c.583+19G>A
n.711+19G>A
c.570+19G>A (n.570+19G>A)
c.-224+19G>A (n.-224+19G>A)
c.225+19G>A (n.225+19G>A)
c.711+19G>A (n.711+19G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.132175437C=CA1820664504KCNQ3c.933+16G= (n.933+16G=)
c.573+16G= (n.573+16G=)
c.606+16G= (n.606+16G=)
c.583+16G=
n.711+16G=
c.570+16G= (n.570+16G=)
c.-224+16G= (n.-224+16G=)
c.225+16G= (n.225+16G=)
c.711+16G= (n.711+16G=)
8g.132175437C>TCA1820664505KCNQ3c.933+16G>A (n.933+16G>A)
c.573+16G>A (n.573+16G>A)
c.606+16G>A (n.606+16G>A)
c.583+16G>A
n.711+16G>A
c.570+16G>A (n.570+16G>A)
c.-224+16G>A (n.-224+16G>A)
c.225+16G>A (n.225+16G>A)
c.711+16G>A (n.711+16G>A)
 dbSNP
8g.132175438A>GCA2688627390KCNQ3c.933+15T>C (n.933+15T>C)
c.573+15T>C (n.573+15T>C)
c.606+15T>C (n.606+15T>C)
c.583+15T>C
n.711+15T>C
c.570+15T>C (n.570+15T>C)
c.-224+15T>C (n.-224+15T>C)
c.225+15T>C (n.225+15T>C)
c.711+15T>C (n.711+15T>C)
 gnomAD v4
8g.132175441G>ACA4880815KCNQ3c.933+12C>T (n.933+12C>T)
c.573+12C>T (n.573+12C>T)
c.606+12C>T (n.606+12C>T)
c.583+12C>T
n.711+12C>T
c.570+12C>T (n.570+12C>T)
c.-224+12C>T (n.-224+12C>T)
c.225+12C>T (n.225+12C>T)
c.711+12C>T (n.711+12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132175441G=CA1820664506KCNQ3c.933+12C= (n.933+12C=)
c.573+12C= (n.573+12C=)
c.606+12C= (n.606+12C=)
c.583+12C=
n.711+12C=
c.570+12C= (n.570+12C=)
c.-224+12C= (n.-224+12C=)
c.225+12C= (n.225+12C=)
c.711+12C= (n.711+12C=)
8g.132175442T>CCA1119348337KCNQ3c.933+11A>G (n.933+11A>G)
c.573+11A>G (n.573+11A>G)
c.606+11A>G (n.606+11A>G)
c.583+11A>G
n.711+11A>G
c.570+11A>G (n.570+11A>G)
c.-224+11A>G (n.-224+11A>G)
c.225+11A>G (n.225+11A>G)
c.711+11A>G (n.711+11A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.132175442T=CA1820664507KCNQ3c.933+11A= (n.933+11A=)
c.573+11A= (n.573+11A=)
c.606+11A= (n.606+11A=)
c.583+11A=
n.711+11A=
c.570+11A= (n.570+11A=)
c.-224+11A= (n.-224+11A=)
c.225+11A= (n.225+11A=)
c.711+11A= (n.711+11A=)
8g.132175445T>CCA585279328KCNQ3c.933+8A>G (n.933+8A>G)
c.573+8A>G (n.573+8A>G)
c.606+8A>G (n.606+8A>G)
c.583+8A>G
n.711+8A>G
c.570+8A>G (n.570+8A>G)
c.-224+8A>G (n.-224+8A>G)
c.225+8A>G (n.225+8A>G)
c.711+8A>G (n.711+8A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132175445T=CA1820664508KCNQ3c.933+8A= (n.933+8A=)
c.573+8A= (n.573+8A=)
c.606+8A= (n.606+8A=)
c.583+8A=
n.711+8A=
c.570+8A= (n.570+8A=)
c.-224+8A= (n.-224+8A=)
c.225+8A= (n.225+8A=)
c.711+8A= (n.711+8A=)
8g.132175446G>ACA2782246937KCNQ3c.933+7C>T (n.933+7C>T)
c.573+7C>T (n.573+7C>T)
c.606+7C>T (n.606+7C>T)
c.583+7C>T
n.711+7C>T
c.570+7C>T (n.570+7C>T)
c.-224+7C>T (n.-224+7C>T)
c.225+7C>T (n.225+7C>T)
c.711+7C>T (n.711+7C>T)
8g.132175446G>CCA1820664510KCNQ3c.933+7C>G (n.933+7C>G)
c.573+7C>G (n.573+7C>G)
c.606+7C>G (n.606+7C>G)
c.583+7C>G
n.711+7C>G
c.570+7C>G (n.570+7C>G)
c.-224+7C>G (n.-224+7C>G)
c.225+7C>G (n.225+7C>G)
c.711+7C>G (n.711+7C>G)
 dbSNP
8g.132175446G=CA1820664509KCNQ3c.933+7C= (n.933+7C=)
c.573+7C= (n.573+7C=)
c.606+7C= (n.606+7C=)
c.583+7C=
n.711+7C=
c.570+7C= (n.570+7C=)
c.-224+7C= (n.-224+7C=)
c.225+7C= (n.225+7C=)
c.711+7C= (n.711+7C=)
8g.132175446G>TCA2688627391KCNQ3c.933+7C>A (n.933+7C>A)
c.573+7C>A (n.573+7C>A)
c.606+7C>A (n.606+7C>A)
c.583+7C>A
n.711+7C>A
c.570+7C>A (n.570+7C>A)
c.-224+7C>A (n.-224+7C>A)
c.225+7C>A (n.225+7C>A)
c.711+7C>A (n.711+7C>A)
 gnomAD v4
8g.132175450C=CA1820664511KCNQ3c.933+3G= (n.933+3G=)
c.573+3G= (n.573+3G=)
c.606+3G= (n.606+3G=)
c.583+3G=
n.711+3G=
c.570+3G= (n.570+3G=)
c.-224+3G= (n.-224+3G=)
c.225+3G= (n.225+3G=)
c.711+3G= (n.711+3G=)
8g.132175450C>TCA186223482KCNQ3c.933+3G>A (n.933+3G>A)
c.573+3G>A (n.573+3G>A)
c.606+3G>A (n.606+3G>A)
c.583+3G>A
n.711+3G>A
c.570+3G>A (n.570+3G>A)
c.-224+3G>A (n.-224+3G>A)
c.225+3G>A (n.225+3G>A)
c.711+3G>A (n.711+3G>A)
 dbSNP
8g.132175451A>CCA372290286KCNQ3c.933+2T>G (n.933+2T>G)
c.573+2T>G (n.573+2T>G)
c.606+2T>G (n.606+2T>G)
c.583+2T>G
n.711+2T>G
c.570+2T>G (n.570+2T>G)
c.-224+2T>G (n.-224+2T>G)
c.225+2T>G (n.225+2T>G)
c.711+2T>G (n.711+2T>G)
8g.132175451A>GCA372290287KCNQ3c.933+2T>C (n.933+2T>C)
c.573+2T>C (n.573+2T>C)
c.606+2T>C (n.606+2T>C)
c.583+2T>C
n.711+2T>C
c.570+2T>C (n.570+2T>C)
c.-224+2T>C (n.-224+2T>C)
c.225+2T>C (n.225+2T>C)
c.711+2T>C (n.711+2T>C)
 COSMIC
8g.132175451A>TCA372290288KCNQ3c.933+2T>A (n.933+2T>A)
c.573+2T>A (n.573+2T>A)
c.606+2T>A (n.606+2T>A)
c.583+2T>A
n.711+2T>A
c.570+2T>A (n.570+2T>A)
c.-224+2T>A (n.-224+2T>A)
c.225+2T>A (n.225+2T>A)
c.711+2T>A (n.711+2T>A)
8g.132175452C>ACA372290289KCNQ3c.933+1G>T (n.933+1G>T)
c.573+1G>T (n.573+1G>T)
c.606+1G>T (n.606+1G>T)
c.583+1G>T
n.711+1G>T
c.570+1G>T (n.570+1G>T)
c.-224+1G>T (n.-224+1G>T)
c.225+1G>T (n.225+1G>T)
c.711+1G>T (n.711+1G>T)
 gnomAD v4
8g.132175452C>GCA372290290KCNQ3c.933+1G>C (n.933+1G>C)
c.573+1G>C (n.573+1G>C)
c.606+1G>C (n.606+1G>C)
c.583+1G>C
n.711+1G>C
c.570+1G>C (n.570+1G>C)
c.-224+1G>C (n.-224+1G>C)
c.225+1G>C (n.225+1G>C)
c.711+1G>C (n.711+1G>C)
8g.132175452C>TCA372290291KCNQ3c.933+1G>A (n.933+1G>A)
c.573+1G>A (n.573+1G>A)
c.606+1G>A (n.606+1G>A)
c.583+1G>A
n.711+1G>A
c.570+1G>A (n.570+1G>A)
c.-224+1G>A (n.-224+1G>A)
c.225+1G>A (n.225+1G>A)
c.711+1G>A (n.711+1G>A)
8g.132175453C>ACA463070343KCNQ3c.933G>T (p.Leu311=)
c.573G>T (p.Leu191=)
c.606G>T (p.Leu202=)
c.583G>T
n.711G>T
c.570G>T (p.Leu190=)
c.-224G>T (n.-224G>T)
c.225G>T (p.Leu75=)
c.711G>T (p.Leu237=)
8g.132175453C>GCA463070344KCNQ3c.933G>C (p.Leu311=)
c.573G>C (p.Leu191=)
c.606G>C (p.Leu202=)
c.583G>C
n.711G>C
c.570G>C (p.Leu190=)
c.-224G>C (n.-224G>C)
c.225G>C (p.Leu75=)
c.711G>C (p.Leu237=)
8g.132175453C>TCA463070345KCNQ3c.933G>A (p.Leu311=)
c.573G>A (p.Leu191=)
c.606G>A (p.Leu202=)
c.583G>A
n.711G>A
c.570G>A (p.Leu190=)
c.-224G>A (n.-224G>A)
c.225G>A (p.Leu75=)
c.711G>A (p.Leu237=)
 ClinVar dbSNP
8g.132175454A>CCA372290292KCNQ3c.932T>G (p.Leu311Arg)
c.572T>G (p.Leu191Arg)
c.605T>G (p.Leu202Arg)
c.582T>G
n.710T>G
c.569T>G (p.Leu190Arg)
c.-225T>G (n.-225T>G)
c.224T>G (p.Leu75Arg)
c.710T>G (p.Leu237Arg)
8g.132175454A>GCA372290294KCNQ3c.932T>C (p.Leu311Pro)
c.572T>C (p.Leu191Pro)
c.605T>C (p.Leu202Pro)
c.582T>C
n.710T>C
c.569T>C (p.Leu190Pro)
c.-225T>C (n.-225T>C)
c.224T>C (p.Leu75Pro)
c.710T>C (p.Leu237Pro)
8g.132175454A>TCA372290293KCNQ3c.932T>A (p.Leu311Gln)
c.572T>A (p.Leu191Gln)
c.605T>A (p.Leu202Gln)
c.582T>A
n.710T>A
c.569T>A (p.Leu190Gln)
c.-225T>A (n.-225T>A)
c.224T>A (p.Leu75Gln)
c.710T>A (p.Leu237Gln)
8g.132175455G>ACA463070346KCNQ3c.931C>T (p.Leu311=)
c.571C>T (p.Leu191=)
c.604C>T (p.Leu202=)
c.581C>T
n.709C>T
c.568C>T (p.Leu190=)
c.-226C>T (n.-226C>T)
c.223C>T (p.Leu75=)
c.709C>T (p.Leu237=)
8g.132175455G>CCA372290295KCNQ3c.931C>G (p.Leu311Val)
c.571C>G (p.Leu191Val)
c.604C>G (p.Leu202Val)
c.581C>G
n.709C>G
c.568C>G (p.Leu190Val)
c.-226C>G (n.-226C>G)
c.223C>G (p.Leu75Val)
c.709C>G (p.Leu237Val)
8g.132175455G>TCA372290296KCNQ3c.931C>A (p.Leu311Met)
c.571C>A (p.Leu191Met)
c.604C>A (p.Leu202Met)
c.581C>A
n.709C>A
c.568C>A (p.Leu190Met)
c.-226C>A (n.-226C>A)
c.223C>A (p.Leu75Met)
c.709C>A (p.Leu237Met)
8g.132175456G>ACA463070349KCNQ3c.930C>T (p.Gly310=)
c.570C>T (p.Gly190=)
c.603C>T (p.Gly201=)
c.580C>T
n.708C>T
c.567C>T (p.Gly189=)
c.-227C>T (n.-227C>T)
c.222C>T (p.Gly74=)
c.708C>T (p.Gly236=)
 gnomAD v4 COSMIC
8g.132175456G>CCA463070348KCNQ3c.930C>G (p.Gly310=)
c.570C>G (p.Gly190=)
c.603C>G (p.Gly201=)
c.580C>G
n.708C>G
c.567C>G (p.Gly189=)
c.-227C>G (n.-227C>G)
c.222C>G (p.Gly74=)
c.708C>G (p.Gly236=)
8g.132175456G>TCA463070347KCNQ3c.930C>A (p.Gly310=)
c.570C>A (p.Gly190=)
c.603C>A (p.Gly201=)
c.580C>A
n.708C>A
c.567C>A (p.Gly189=)
c.-227C>A (n.-227C>A)
c.222C>A (p.Gly74=)
c.708C>A (p.Gly236=)
8g.132175457C>ACA340677KCNQ3c.929G>T (p.Gly310Val)
c.569G>T (p.Gly190Val)
c.602G>T (p.Gly201Val)
c.579G>T
n.707G>T
c.566G>T (p.Gly189Val)
c.-228G>T (n.-228G>T)
c.221G>T (p.Gly74Val)
c.707G>T (p.Gly236Val)
 ClinVar dbSNP
8g.132175457C=CA1820664512KCNQ3c.929G= (p.Gly310=)
c.569G= (p.Gly190=)
c.602G= (p.Gly201=)
c.579G=
n.707G=
c.566G= (p.Gly189=)
c.-228G= (n.-228G=)
c.221G= (p.Gly74=)
c.707G= (p.Gly236=)
8g.132175457C>GCA372290297KCNQ3c.929G>C (p.Gly310Ala)
c.569G>C (p.Gly190Ala)
c.602G>C (p.Gly201Ala)
c.579G>C
n.707G>C
c.566G>C (p.Gly189Ala)
c.-228G>C (n.-228G>C)
c.221G>C (p.Gly74Ala)
c.707G>C (p.Gly236Ala)
8g.132175457C>TCA372290298KCNQ3c.929G>A (p.Gly310Asp)
c.569G>A (p.Gly190Asp)
c.602G>A (p.Gly201Asp)
c.579G>A
n.707G>A
c.566G>A (p.Gly189Asp)
c.-228G>A (n.-228G>A)
c.221G>A (p.Gly74Asp)
c.707G>A (p.Gly236Asp)
 ClinVar dbSNP
8g.132175458C>ACA372290299KCNQ3c.928G>T (p.Gly310Cys)
c.568G>T (p.Gly190Cys)
c.601G>T (p.Gly201Cys)
c.578G>T
n.706G>T
c.565G>T (p.Gly189Cys)
c.-229G>T (n.-229G>T)
c.220G>T (p.Gly74Cys)
c.706G>T (p.Gly236Cys)
8g.132175458C>GCA372290300KCNQ3c.928G>C (p.Gly310Arg)
c.568G>C (p.Gly190Arg)
c.601G>C (p.Gly201Arg)
c.578G>C
n.706G>C
c.565G>C (p.Gly189Arg)
c.-229G>C (n.-229G>C)
c.220G>C (p.Gly74Arg)
c.706G>C (p.Gly236Arg)
 COSMIC
8g.132175458C>TCA372290301KCNQ3c.928G>A (p.Gly310Ser)
c.568G>A (p.Gly190Ser)
c.601G>A (p.Gly201Ser)
c.578G>A
n.706G>A
c.565G>A (p.Gly189Ser)
c.-229G>A (n.-229G>A)
c.220G>A (p.Gly74Ser)
c.706G>A (p.Gly236Ser)
8g.132175459C>ACA372290302KCNQ3c.927G>T (p.Trp309Cys)
c.567G>T (p.Trp189Cys)
c.600G>T (p.Trp200Cys)
c.577G>T
n.705G>T
c.564G>T (p.Trp188Cys)
c.-230G>T (n.-230G>T)
c.219G>T (p.Trp73Cys)
c.705G>T (p.Trp235Cys)
8g.132175459C>GCA372290303KCNQ3c.927G>C (p.Trp309Cys)
c.567G>C (p.Trp189Cys)
c.600G>C (p.Trp200Cys)
c.577G>C
n.705G>C
c.564G>C (p.Trp188Cys)
c.-230G>C (n.-230G>C)
c.219G>C (p.Trp73Cys)
c.705G>C (p.Trp235Cys)
8g.132175459C>TCA372290304KCNQ3c.927G>A (p.Trp309Ter)
c.567G>A (p.Trp189Ter)
c.600G>A (p.Trp200Ter)
c.577G>A
n.705G>A
c.564G>A (p.Trp188Ter)
c.-230G>A (n.-230G>A)
c.219G>A (p.Trp73Ter)
c.705G>A (p.Trp235Ter)
8g.132175459_132175460delinsTTCA645546527KCNQ3c.926_927delinsAA (p.Trp309Ter)
c.566_567delinsAA (p.Trp189Ter)
c.599_600delinsAA (p.Trp200Ter)
c.576_577delinsAA
n.704_705delinsAA
c.563_564delinsAA (p.Trp188Ter)
c.-231_-230delinsAA (n.-231_-230delinsAA)
c.218_219delinsAA (p.Trp73Ter)
c.704_705delinsAA (p.Trp235Ter)
 COSMIC
8g.132175460C>ACA372290305KCNQ3c.926G>T (p.Trp309Leu)
c.566G>T (p.Trp189Leu)
c.599G>T (p.Trp200Leu)
c.576G>T
n.704G>T
c.563G>T (p.Trp188Leu)
c.-231G>T (n.-231G>T)
c.218G>T (p.Trp73Leu)
c.704G>T (p.Trp235Leu)
8g.132175460C>GCA372290307KCNQ3c.926G>C (p.Trp309Ser)
c.566G>C (p.Trp189Ser)
c.599G>C (p.Trp200Ser)
c.576G>C
n.704G>C
c.563G>C (p.Trp188Ser)
c.-231G>C (n.-231G>C)
c.218G>C (p.Trp73Ser)
c.704G>C (p.Trp235Ser)
8g.132175460C>TCA372290306KCNQ3c.926G>A (p.Trp309Ter)
c.566G>A (p.Trp189Ter)
c.599G>A (p.Trp200Ter)
c.576G>A
n.704G>A
c.563G>A (p.Trp188Ter)
c.-231G>A (n.-231G>A)
c.218G>A (p.Trp73Ter)
c.704G>A (p.Trp235Ter)
 gnomAD v4
8g.132175461A=CA1820664513KCNQ3c.925T= (p.Trp309=)
c.565T= (p.Trp189=)
c.598T= (p.Trp200=)
c.575T=
n.703T=
c.562T= (p.Trp188=)
c.-232T= (n.-232T=)
c.217T= (p.Trp73=)
c.703T= (p.Trp235=)
8g.132175461A>CCA372290308KCNQ3c.925T>G (p.Trp309Gly)
c.565T>G (p.Trp189Gly)
c.598T>G (p.Trp200Gly)
c.575T>G
n.703T>G
c.562T>G (p.Trp188Gly)
c.-232T>G (n.-232T>G)
c.217T>G (p.Trp73Gly)
c.703T>G (p.Trp235Gly)
8g.132175461A>GCA342042KCNQ3c.925T>C (p.Trp309Arg)
c.565T>C (p.Trp189Arg)
c.598T>C (p.Trp200Arg)
c.575T>C
n.703T>C
c.562T>C (p.Trp188Arg)
c.-232T>C (n.-232T>C)
c.217T>C (p.Trp73Arg)
c.703T>C (p.Trp235Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132175461A>TCA372290309KCNQ3c.925T>A (p.Trp309Arg)
c.565T>A (p.Trp189Arg)
c.598T>A (p.Trp200Arg)
c.575T>A
n.703T>A
c.562T>A (p.Trp188Arg)
c.-232T>A (n.-232T>A)
c.217T>A (p.Trp73Arg)
c.703T>A (p.Trp235Arg)
8g.132175462C>ACA372290310KCNQ3c.924G>T (p.Trp308Cys)
c.564G>T (p.Trp188Cys)
c.597G>T (p.Trp199Cys)
c.574G>T
n.702G>T
c.561G>T (p.Trp187Cys)
c.-233G>T (n.-233G>T)
c.216G>T (p.Trp72Cys)
c.702G>T (p.Trp234Cys)
 ClinVar
8g.132175462C=CA1820664514KCNQ3c.924G= (p.Trp308=)
c.564G= (p.Trp188=)
c.597G= (p.Trp199=)
c.574G=
n.702G=
c.561G= (p.Trp187=)
c.-233G= (n.-233G=)
c.216G= (p.Trp72=)
c.702G= (p.Trp234=)
8g.132175462C>GCA372290312KCNQ3c.924G>C (p.Trp308Cys)
c.564G>C (p.Trp188Cys)
c.597G>C (p.Trp199Cys)
c.574G>C
n.702G>C
c.561G>C (p.Trp187Cys)
c.-233G>C (n.-233G>C)
c.216G>C (p.Trp72Cys)
c.702G>C (p.Trp234Cys)
8g.132175462C>TCA372290311KCNQ3c.924G>A (p.Trp308Ter)
c.564G>A (p.Trp188Ter)
c.597G>A (p.Trp199Ter)
c.574G>A
n.702G>A
c.561G>A (p.Trp187Ter)
c.-233G>A (n.-233G>A)
c.216G>A (p.Trp72Ter)
c.702G>A (p.Trp234Ter)
 ClinVar dbSNP
8g.132175463C>ACA372290313KCNQ3c.923G>T (p.Trp308Leu)
c.563G>T (p.Trp188Leu)
c.596G>T (p.Trp199Leu)
c.573G>T
n.701G>T
c.560G>T (p.Trp187Leu)
c.-234G>T (n.-234G>T)
c.215G>T (p.Trp72Leu)
c.701G>T (p.Trp234Leu)
8g.132175463C=CA1820664515KCNQ3c.923G= (p.Trp308=)
c.563G= (p.Trp188=)
c.596G= (p.Trp199=)
c.573G=
n.701G=
c.560G= (p.Trp187=)
c.-234G= (n.-234G=)
c.215G= (p.Trp72=)
c.701G= (p.Trp234=)
8g.132175463C>GCA16618600KCNQ3c.923G>C (p.Trp308Ser)
c.563G>C (p.Trp188Ser)
c.596G>C (p.Trp199Ser)
c.573G>C
n.701G>C
c.560G>C (p.Trp187Ser)
c.-234G>C (n.-234G>C)
c.215G>C (p.Trp72Ser)
c.701G>C (p.Trp234Ser)
 ClinVar dbSNP
8g.132175463C>TCA372290314KCNQ3c.923G>A (p.Trp308Ter)
c.563G>A (p.Trp188Ter)
c.596G>A (p.Trp199Ter)
c.573G>A
n.701G>A
c.560G>A (p.Trp187Ter)
c.-234G>A (n.-234G>A)
c.215G>A (p.Trp72Ter)
c.701G>A (p.Trp234Ter)
8g.132175464A>CCA372290315KCNQ3c.922T>G (p.Trp308Gly)
c.562T>G (p.Trp188Gly)
c.595T>G (p.Trp199Gly)
c.572T>G
n.700T>G
c.559T>G (p.Trp187Gly)
c.-235T>G (n.-235T>G)
c.214T>G (p.Trp72Gly)
c.700T>G (p.Trp234Gly)
8g.132175464A>GCA372290316KCNQ3c.922T>C (p.Trp308Arg)
c.562T>C (p.Trp188Arg)
c.595T>C (p.Trp199Arg)
c.572T>C
n.700T>C
c.559T>C (p.Trp187Arg)
c.-235T>C (n.-235T>C)
c.214T>C (p.Trp72Arg)
c.700T>C (p.Trp234Arg)
8g.132175464A>TCA372290317KCNQ3c.922T>A (p.Trp308Arg)
c.562T>A (p.Trp188Arg)
c.595T>A (p.Trp199Arg)
c.572T>A
n.700T>A
c.559T>A (p.Trp187Arg)
c.-235T>A (n.-235T>A)
c.214T>A (p.Trp72Arg)
c.700T>A (p.Trp234Arg)
8g.132175465C>ACA463070350KCNQ3c.921G>T (p.Leu307=)
c.561G>T (p.Leu187=)
c.594G>T (p.Leu198=)
c.571G>T
n.699G>T
c.558G>T (p.Leu186=)
c.-236G>T (n.-236G>T)
c.213G>T (p.Leu71=)
c.699G>T (p.Leu233=)
8g.132175465C=CA1820664516KCNQ3c.921G= (p.Leu307=)
c.561G= (p.Leu187=)
c.594G= (p.Leu198=)
c.571G=
n.699G=
c.558G= (p.Leu186=)
c.-236G= (n.-236G=)
c.213G= (p.Leu71=)
c.699G= (p.Leu233=)
8g.132175465C>GCA463070351KCNQ3c.921G>C (p.Leu307=)
c.561G>C (p.Leu187=)
c.594G>C (p.Leu198=)
c.571G>C
n.699G>C
c.558G>C (p.Leu186=)
c.-236G>C (n.-236G>C)
c.213G>C (p.Leu71=)
c.699G>C (p.Leu233=)
 dbSNP
8g.132175465C>TCA186223483KCNQ3c.921G>A (p.Leu307=)
c.561G>A (p.Leu187=)
c.594G>A (p.Leu198=)
c.571G>A
n.699G>A
c.558G>A (p.Leu186=)
c.-236G>A (n.-236G>A)
c.213G>A (p.Leu71=)
c.699G>A (p.Leu233=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132175466A>CCA372290318KCNQ3c.920T>G (p.Leu307Arg)
c.560T>G (p.Leu187Arg)
c.593T>G (p.Leu198Arg)
c.570T>G
n.698T>G
c.557T>G (p.Leu186Arg)
c.-237T>G (n.-237T>G)
c.212T>G (p.Leu71Arg)
c.698T>G (p.Leu233Arg)
8g.132175466A>GCA372290319KCNQ3c.920T>C (p.Leu307Pro)
c.560T>C (p.Leu187Pro)
c.593T>C (p.Leu198Pro)
c.570T>C
n.698T>C
c.557T>C (p.Leu186Pro)
c.-237T>C (n.-237T>C)
c.212T>C (p.Leu71Pro)
c.698T>C (p.Leu233Pro)
8g.132175466A>TCA372290320KCNQ3c.920T>A (p.Leu307Gln)
c.560T>A (p.Leu187Gln)
c.593T>A (p.Leu198Gln)
c.570T>A
n.698T>A
c.557T>A (p.Leu186Gln)
c.-237T>A (n.-237T>A)
c.212T>A (p.Leu71Gln)
c.698T>A (p.Leu233Gln)
8g.132175467G>ACA463070353KCNQ3c.919C>T (p.Leu307=)
c.559C>T (p.Leu187=)
c.592C>T (p.Leu198=)
c.569C>T
n.697C>T
c.556C>T (p.Leu186=)
c.-238C>T (n.-238C>T)
c.211C>T (p.Leu71=)
c.697C>T (p.Leu233=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132175467G>CCA372290321KCNQ3c.919C>G (p.Leu307Val)
c.559C>G (p.Leu187Val)
c.592C>G (p.Leu198Val)
c.569C>G
n.697C>G
c.556C>G (p.Leu186Val)
c.-238C>G (n.-238C>G)
c.211C>G (p.Leu71Val)
c.697C>G (p.Leu233Val)
8g.132175467G=CA1820664517KCNQ3c.919C= (p.Leu307=)
c.559C= (p.Leu187=)
c.592C= (p.Leu198=)
c.569C=
n.697C=
c.556C= (p.Leu186=)
c.-238C= (n.-238C=)
c.211C= (p.Leu71=)
c.697C= (p.Leu233=)
8g.132175467G>TCA372290322KCNQ3c.919C>A (p.Leu307Met)
c.559C>A (p.Leu187Met)
c.592C>A (p.Leu198Met)
c.569C>A
n.697C>A
c.556C>A (p.Leu186Met)
c.-238C>A (n.-238C>A)
c.211C>A (p.Leu71Met)
c.697C>A (p.Leu233Met)
8g.132175468G>ACA186223484KCNQ3c.918C>T (p.Ala306=)
c.558C>T (p.Ala186=)
c.591C>T (p.Ala197=)
c.568C>T
n.696C>T
c.555C>T (p.Ala185=)
c.-239C>T (n.-239C>T)
c.210C>T (p.Ala70=)
c.696C>T (p.Ala232=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132175468G>CCA463070354KCNQ3c.918C>G (p.Ala306=)
c.558C>G (p.Ala186=)
c.591C>G (p.Ala197=)
c.568C>G
n.696C>G
c.555C>G (p.Ala185=)
c.-239C>G (n.-239C>G)
c.210C>G (p.Ala70=)
c.696C>G (p.Ala232=)
8g.132175468G=CA1820664518KCNQ3c.918C= (p.Ala306=)
c.558C= (p.Ala186=)
c.591C= (p.Ala197=)
c.568C=
n.696C=
c.555C= (p.Ala185=)
c.-239C= (n.-239C=)
c.210C= (p.Ala70=)
c.696C= (p.Ala232=)
8g.132175468G>TCA463070355KCNQ3c.918C>A (p.Ala306=)
c.558C>A (p.Ala186=)
c.591C>A (p.Ala197=)
c.568C>A
n.696C>A
c.555C>A (p.Ala185=)
c.-239C>A (n.-239C>A)
c.210C>A (p.Ala70=)
c.696C>A (p.Ala232=)
8g.132175469G>ACA315599KCNQ3c.917C>T (p.Ala306Val)
c.557C>T (p.Ala186Val)
c.590C>T (p.Ala197Val)
c.567C>T
n.695C>T
c.554C>T (p.Ala185Val)
c.-240C>T (n.-240C>T)
c.209C>T (p.Ala70Val)
c.695C>T (p.Ala232Val)
 ClinVar dbSNP
8g.132175469G>CCA372290323KCNQ3c.917C>G (p.Ala306Gly)
c.557C>G (p.Ala186Gly)
c.590C>G (p.Ala197Gly)
c.567C>G
n.695C>G
c.554C>G (p.Ala185Gly)
c.-240C>G (n.-240C>G)
c.209C>G (p.Ala70Gly)
c.695C>G (p.Ala232Gly)
8g.132175469G=CA1820664519KCNQ3c.917C= (p.Ala306=)
c.557C= (p.Ala186=)
c.590C= (p.Ala197=)
c.567C=
n.695C=
c.554C= (p.Ala185=)
c.-240C= (n.-240C=)
c.209C= (p.Ala70=)
c.695C= (p.Ala232=)
8g.132175469G>TCA372290324KCNQ3c.917C>A (p.Ala306Asp)
c.557C>A (p.Ala186Asp)
c.590C>A (p.Ala197Asp)
c.567C>A
n.695C>A
c.554C>A (p.Ala185Asp)
c.-240C>A (n.-240C>A)
c.209C>A (p.Ala70Asp)
c.695C>A (p.Ala232Asp)
8g.132175470C>ACA372290325KCNQ3c.916G>T (p.Ala306Ser)
c.556G>T (p.Ala186Ser)
c.589G>T (p.Ala197Ser)
c.566G>T
n.694G>T
c.553G>T (p.Ala185Ser)
c.-241G>T (n.-241G>T)
c.208G>T (p.Ala70Ser)
c.694G>T (p.Ala232Ser)
8g.132175470C=CA1820664520KCNQ3c.916G= (p.Ala306=)
c.556G= (p.Ala186=)
c.589G= (p.Ala197=)
c.566G=
n.694G=
c.553G= (p.Ala185=)
c.-241G= (n.-241G=)
c.208G= (p.Ala70=)
c.694G= (p.Ala232=)
8g.132175470C>GCA372290326KCNQ3c.916G>C (p.Ala306Pro)
c.556G>C (p.Ala186Pro)
c.589G>C (p.Ala197Pro)
c.566G>C
n.694G>C
c.553G>C (p.Ala185Pro)
c.-241G>C (n.-241G>C)
c.208G>C (p.Ala70Pro)
c.694G>C (p.Ala232Pro)
8g.132175470C>TCA372290327KCNQ3c.916G>A (p.Ala306Thr)
c.556G>A (p.Ala186Thr)
c.589G>A (p.Ala197Thr)
c.566G>A
n.694G>A
c.553G>A (p.Ala185Thr)
c.-241G>A (n.-241G>A)
c.208G>A (p.Ala70Thr)
c.694G>A (p.Ala232Thr)
 ClinVar dbSNP
8g.132175471A>CCA372290328KCNQ3c.915T>G (p.Asp305Glu)
c.555T>G (p.Asp185Glu)
c.588T>G (p.Asp196Glu)
c.565T>G
n.693T>G
c.552T>G (p.Asp184Glu)
c.-242T>G (n.-242T>G)
c.207T>G (p.Asp69Glu)
c.693T>G (p.Asp231Glu)
8g.132175471A>GCA463070356KCNQ3c.915T>C (p.Asp305=)
c.555T>C (p.Asp185=)
c.588T>C (p.Asp196=)
c.565T>C
n.693T>C
c.552T>C (p.Asp184=)
c.-242T>C (n.-242T>C)
c.207T>C (p.Asp69=)
c.693T>C (p.Asp231=)
8g.132175471A>TCA372290329KCNQ3c.915T>A (p.Asp305Glu)
c.555T>A (p.Asp185Glu)
c.588T>A (p.Asp196Glu)
c.565T>A
n.693T>A
c.552T>A (p.Asp184Glu)
c.-242T>A (n.-242T>A)
c.207T>A (p.Asp69Glu)
c.693T>A (p.Asp231Glu)
8g.132175472T>ACA372290330KCNQ3c.914A>T (p.Asp305Val)
c.554A>T (p.Asp185Val)
c.587A>T (p.Asp196Val)
c.564A>T
n.692A>T
c.551A>T (p.Asp184Val)
c.-243A>T (n.-243A>T)
c.206A>T (p.Asp69Val)
c.692A>T (p.Asp231Val)
 ClinVar dbSNP
8g.132175472T>CCA342041KCNQ3c.914A>G (p.Asp305Gly)
c.554A>G (p.Asp185Gly)
c.587A>G (p.Asp196Gly)
c.564A>G
n.692A>G
c.551A>G (p.Asp184Gly)
c.-243A>G (n.-243A>G)
c.206A>G (p.Asp69Gly)
c.692A>G (p.Asp231Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132175472T>GCA372290331KCNQ3c.914A>C (p.Asp305Ala)
c.554A>C (p.Asp185Ala)
c.587A>C (p.Asp196Ala)
c.564A>C
n.692A>C
c.551A>C (p.Asp184Ala)
c.-243A>C (n.-243A>C)
c.206A>C (p.Asp69Ala)
c.692A>C (p.Asp231Ala)
8g.132175472T=CA1820664521KCNQ3c.914A= (p.Asp305=)
c.554A= (p.Asp185=)
c.587A= (p.Asp196=)
c.564A=
n.692A=
c.551A= (p.Asp184=)
c.-243A= (n.-243A=)
c.206A= (p.Asp69=)
c.692A= (p.Asp231=)
8g.132175473C>ACA372290332KCNQ3c.913G>T (p.Asp305Tyr)
c.553G>T (p.Asp185Tyr)
c.586G>T (p.Asp196Tyr)
c.563G>T
n.691G>T
c.550G>T (p.Asp184Tyr)
c.-244G>T (n.-244G>T)
c.205G>T (p.Asp69Tyr)
c.691G>T (p.Asp231Tyr)
 ClinVar dbSNP
8g.132175473C=CA1820664522KCNQ3c.913G= (p.Asp305=)
c.553G= (p.Asp185=)
c.586G= (p.Asp196=)
c.563G=
n.691G=
c.550G= (p.Asp184=)
c.-244G= (n.-244G=)
c.205G= (p.Asp69=)
c.691G= (p.Asp231=)
8g.132175473C>GCA372290333KCNQ3c.913G>C (p.Asp305His)
c.553G>C (p.Asp185His)
c.586G>C (p.Asp196His)
c.563G>C
n.691G>C
c.550G>C (p.Asp184His)
c.-244G>C (n.-244G>C)
c.205G>C (p.Asp69His)
c.691G>C (p.Asp231His)
8g.132175473C>TCA372290334KCNQ3c.913G>A (p.Asp305Asn)
c.553G>A (p.Asp185Asn)
c.586G>A (p.Asp196Asn)
c.563G>A
n.691G>A
c.550G>A (p.Asp184Asn)
c.-244G>A (n.-244G>A)
c.205G>A (p.Asp69Asn)
c.691G>A (p.Asp231Asn)
8g.132175474T>ACA463070357KCNQ3c.912A>T (p.Ala304=)
c.552A>T (p.Ala184=)
c.585A>T (p.Ala195=)
c.562A>T
n.690A>T
c.549A>T (p.Ala183=)
c.-245A>T (n.-245A>T)
c.204A>T (p.Ala68=)
c.690A>T (p.Ala230=)
8g.132175474T>CCA4880816KCNQ3c.912A>G (p.Ala304=)
c.552A>G (p.Ala184=)
c.585A>G (p.Ala195=)
c.562A>G
n.690A>G
c.549A>G (p.Ala183=)
c.-245A>G (n.-245A>G)
c.204A>G (p.Ala68=)
c.690A>G (p.Ala230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132175474T>GCA463070358KCNQ3c.912A>C (p.Ala304=)
c.552A>C (p.Ala184=)
c.585A>C (p.Ala195=)
c.562A>C
n.690A>C
c.549A>C (p.Ala183=)
c.-245A>C (n.-245A>C)
c.204A>C (p.Ala68=)
c.690A>C (p.Ala230=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132175474T=CA1820664523KCNQ3c.912A= (p.Ala304=)
c.552A= (p.Ala184=)
c.585A= (p.Ala195=)
c.562A=
n.690A=
c.549A= (p.Ala183=)
c.-245A= (n.-245A=)
c.204A= (p.Ala68=)
c.690A= (p.Ala230=)
8g.132175475G>ACA372290337KCNQ3c.911C>T (p.Ala304Val)
c.551C>T (p.Ala184Val)
c.584C>T (p.Ala195Val)
c.561C>T
n.689C>T
c.548C>T (p.Ala183Val)
c.-246C>T (n.-246C>T)
c.203C>T (p.Ala68Val)
c.689C>T (p.Ala230Val)
8g.132175475G>CCA372290335KCNQ3c.911C>G (p.Ala304Gly)
c.551C>G (p.Ala184Gly)
c.584C>G (p.Ala195Gly)
c.561C>G
n.689C>G
c.548C>G (p.Ala183Gly)
c.-246C>G (n.-246C>G)
c.203C>G (p.Ala68Gly)
c.689C>G (p.Ala230Gly)
 gnomAD v4
8g.132175475G>TCA372290336KCNQ3c.911C>A (p.Ala304Glu)
c.551C>A (p.Ala184Glu)
c.584C>A (p.Ala195Glu)
c.561C>A
n.689C>A
c.548C>A (p.Ala183Glu)
c.-246C>A (n.-246C>A)
c.203C>A (p.Ala68Glu)
c.689C>A (p.Ala230Glu)
 gnomAD v4
8g.132175476C>ACA372290338KCNQ3c.910G>T (p.Ala304Ser)
c.550G>T (p.Ala184Ser)
c.583G>T (p.Ala195Ser)
c.560G>T
n.688G>T
c.547G>T (p.Ala183Ser)
c.-247G>T (n.-247G>T)
c.202G>T (p.Ala68Ser)
c.688G>T (p.Ala230Ser)
8g.132175476C>GCA372290339KCNQ3c.910G>C (p.Ala304Pro)
c.550G>C (p.Ala184Pro)
c.583G>C (p.Ala195Pro)
c.560G>C
n.688G>C
c.547G>C (p.Ala183Pro)
c.-247G>C (n.-247G>C)
c.202G>C (p.Ala68Pro)
c.688G>C (p.Ala230Pro)
8g.132175476C>TCA372290340KCNQ3c.910G>A (p.Ala304Thr)
c.550G>A (p.Ala184Thr)
c.583G>A (p.Ala195Thr)
c.560G>A
n.688G>A
c.547G>A (p.Ala183Thr)
c.-247G>A (n.-247G>A)
c.202G>A (p.Ala68Thr)
c.688G>A (p.Ala230Thr)
8g.132175477A>CCA372290341KCNQ3c.909T>G (p.Tyr303Ter)
c.549T>G (p.Tyr183Ter)
c.582T>G (p.Tyr194Ter)
c.559T>G
n.687T>G
c.546T>G (p.Tyr182Ter)
c.-248T>G (n.-248T>G)
c.201T>G (p.Tyr67Ter)
c.687T>G (p.Tyr229Ter)
8g.132175477A>GCA463070359KCNQ3c.909T>C (p.Tyr303=)
c.549T>C (p.Tyr183=)
c.582T>C (p.Tyr194=)
c.559T>C
n.687T>C
c.546T>C (p.Tyr182=)
c.-248T>C (n.-248T>C)
c.201T>C (p.Tyr67=)
c.687T>C (p.Tyr229=)
8g.132175477A>TCA372290342KCNQ3c.909T>A (p.Tyr303Ter)
c.549T>A (p.Tyr183Ter)
c.582T>A (p.Tyr194Ter)
c.559T>A
n.687T>A
c.546T>A (p.Tyr182Ter)
c.-248T>A (n.-248T>A)
c.201T>A (p.Tyr67Ter)
c.687T>A (p.Tyr229Ter)
8g.132175478T>ACA372290343KCNQ3c.908A>T (p.Tyr303Phe)
c.548A>T (p.Tyr183Phe)
c.581A>T (p.Tyr194Phe)
c.558A>T
n.686A>T
c.545A>T (p.Tyr182Phe)
c.-249A>T (n.-249A>T)
c.200A>T (p.Tyr67Phe)
c.686A>T (p.Tyr229Phe)
8g.132175478T>CCA372290344KCNQ3c.908A>G (p.Tyr303Cys)
c.548A>G (p.Tyr183Cys)
c.581A>G (p.Tyr194Cys)
c.558A>G
n.686A>G
c.545A>G (p.Tyr182Cys)
c.-249A>G (n.-249A>G)
c.200A>G (p.Tyr67Cys)
c.686A>G (p.Tyr229Cys)
8g.132175478T>GCA372290345KCNQ3c.908A>C (p.Tyr303Ser)
c.548A>C (p.Tyr183Ser)
c.581A>C (p.Tyr194Ser)
c.558A>C
n.686A>C
c.545A>C (p.Tyr182Ser)
c.-249A>C (n.-249A>C)
c.200A>C (p.Tyr67Ser)
c.686A>C (p.Tyr229Ser)
8g.132175479A>CCA372290346KCNQ3c.907T>G (p.Tyr303Asp)
c.547T>G (p.Tyr183Asp)
c.580T>G (p.Tyr194Asp)
c.557T>G
n.685T>G
c.544T>G (p.Tyr182Asp)
c.-250T>G (n.-250T>G)
c.199T>G (p.Tyr67Asp)
c.685T>G (p.Tyr229Asp)
8g.132175479A>GCA372290347KCNQ3c.907T>C (p.Tyr303His)
c.547T>C (p.Tyr183His)
c.580T>C (p.Tyr194His)
c.557T>C
n.685T>C
c.544T>C (p.Tyr182His)
c.-250T>C (n.-250T>C)
c.199T>C (p.Tyr67His)
c.685T>C (p.Tyr229His)
8g.132175479A>TCA372290348KCNQ3c.907T>A (p.Tyr303Asn)
c.547T>A (p.Tyr183Asn)
c.580T>A (p.Tyr194Asn)
c.557T>A
n.685T>A
c.544T>A (p.Tyr182Asn)
c.-250T>A (n.-250T>A)
c.199T>A (p.Tyr67Asn)
c.685T>A (p.Tyr229Asn)
8g.132175480G>ACA463070360KCNQ3c.906C>T (p.Thr302=)
c.546C>T (p.Thr182=)
c.579C>T (p.Thr193=)
c.556C>T
n.684C>T
c.543C>T (p.Thr181=)
c.-251C>T (n.-251C>T)
c.198C>T (p.Thr66=)
c.684C>T (p.Thr228=)
8g.132175480G>CCA463070361KCNQ3c.906C>G (p.Thr302=)
c.546C>G (p.Thr182=)
c.579C>G (p.Thr193=)
c.556C>G
n.684C>G
c.543C>G (p.Thr181=)
c.-251C>G (n.-251C>G)
c.198C>G (p.Thr66=)
c.684C>G (p.Thr228=)
8g.132175480G>TCA463070362KCNQ3c.906C>A (p.Thr302=)
c.546C>A (p.Thr182=)
c.579C>A (p.Thr193=)
c.556C>A
n.684C>A
c.543C>A (p.Thr181=)
c.-251C>A (n.-251C>A)
c.198C>A (p.Thr66=)
c.684C>A (p.Thr228=)
8g.132175481G>ACA372290349KCNQ3c.905C>T (p.Thr302Ile)
c.545C>T (p.Thr182Ile)
c.578C>T (p.Thr193Ile)
c.555C>T
n.683C>T
c.542C>T (p.Thr181Ile)
c.-252C>T (n.-252C>T)
c.197C>T (p.Thr66Ile)
c.683C>T (p.Thr228Ile)
8g.132175481G>CCA372290350KCNQ3c.905C>G (p.Thr302Ser)
c.545C>G (p.Thr182Ser)
c.578C>G (p.Thr193Ser)
c.555C>G
n.683C>G
c.542C>G (p.Thr181Ser)
c.-252C>G (n.-252C>G)
c.197C>G (p.Thr66Ser)
c.683C>G (p.Thr228Ser)
8g.132175481G=CA1820664524KCNQ3c.905C= (p.Thr302=)
c.545C= (p.Thr182=)
c.578C= (p.Thr193=)
c.555C=
n.683C=
c.542C= (p.Thr181=)
c.-252C= (n.-252C=)
c.197C= (p.Thr66=)
c.683C= (p.Thr228=)
8g.132175481G>TCA186223485KCNQ3c.905C>A (p.Thr302Asn)
c.545C>A (p.Thr182Asn)
c.578C>A (p.Thr193Asn)
c.555C>A
n.683C>A
c.542C>A (p.Thr181Asn)
c.-252C>A (n.-252C>A)
c.197C>A (p.Thr66Asn)
c.683C>A (p.Thr228Asn)
 dbSNP
8g.132175482T>ACA372290351KCNQ3c.904A>T (p.Thr302Ser)
c.544A>T (p.Thr182Ser)
c.577A>T (p.Thr193Ser)
c.554A>T
n.682A>T
c.541A>T (p.Thr181Ser)
c.-253A>T (n.-253A>T)
c.196A>T (p.Thr66Ser)
c.682A>T (p.Thr228Ser)
8g.132175482T>CCA372290352KCNQ3c.904A>G (p.Thr302Ala)
c.544A>G (p.Thr182Ala)
c.577A>G (p.Thr193Ala)
c.554A>G
n.682A>G
c.541A>G (p.Thr181Ala)
c.-253A>G (n.-253A>G)
c.196A>G (p.Thr66Ala)
c.682A>G (p.Thr228Ala)
8g.132175482T>GCA372290353KCNQ3c.904A>C (p.Thr302Pro)
c.544A>C (p.Thr182Pro)
c.577A>C (p.Thr193Pro)
c.554A>C
n.682A>C
c.541A>C (p.Thr181Pro)
c.-253A>C (n.-253A>C)
c.196A>C (p.Thr66Pro)
c.682A>C (p.Thr228Pro)
8g.132175483C>ACA4880817KCNQ3c.903G>T (p.Glu301Asp)
c.543G>T (p.Glu181Asp)
c.576G>T (p.Glu192Asp)
c.553G>T
n.681G>T
c.540G>T (p.Glu180Asp)
c.-254G>T (n.-254G>T)
c.195G>T (p.Glu65Asp)
c.681G>T (p.Glu227Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132175483C=CA1820664525KCNQ3c.903G= (p.Glu301=)
c.543G= (p.Glu181=)
c.576G= (p.Glu192=)
c.553G=
n.681G=
c.540G= (p.Glu180=)
c.-254G= (n.-254G=)
c.195G= (p.Glu65=)
c.681G= (p.Glu227=)
8g.132175483C>GCA372290354KCNQ3c.903G>C (p.Glu301Asp)
c.543G>C (p.Glu181Asp)
c.576G>C (p.Glu192Asp)
c.553G>C
n.681G>C
c.540G>C (p.Glu180Asp)
c.-254G>C (n.-254G>C)
c.195G>C (p.Glu65Asp)
c.681G>C (p.Glu227Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.132175483C>TCA463070363KCNQ3c.903G>A (p.Glu301=)
c.543G>A (p.Glu181=)
c.576G>A (p.Glu192=)
c.553G>A
n.681G>A
c.540G>A (p.Glu180=)
c.-254G>A (n.-254G>A)
c.195G>A (p.Glu65=)
c.681G>A (p.Glu227=)
 ClinVar dbSNP
8g.132175484T>ACA372290355KCNQ3c.902A>T (p.Glu301Val)
c.542A>T (p.Glu181Val)
c.575A>T (p.Glu192Val)
c.552A>T
n.680A>T
c.539A>T (p.Glu180Val)
c.-255A>T (n.-255A>T)
c.194A>T (p.Glu65Val)
c.680A>T (p.Glu227Val)
8g.132175484T>CCA372290356KCNQ3c.902A>G (p.Glu301Gly)
c.542A>G (p.Glu181Gly)
c.575A>G (p.Glu192Gly)
c.552A>G
n.680A>G
c.539A>G (p.Glu180Gly)
c.-255A>G (n.-255A>G)
c.194A>G (p.Glu65Gly)
c.680A>G (p.Glu227Gly)
8g.132175484T>GCA372290357KCNQ3c.902A>C (p.Glu301Ala)
c.542A>C (p.Glu181Ala)
c.575A>C (p.Glu192Ala)
c.552A>C
n.680A>C
c.539A>C (p.Glu180Ala)
c.-255A>C (n.-255A>C)
c.194A>C (p.Glu65Ala)
c.680A>C (p.Glu227Ala)
8g.132175485C>ACA372290358KCNQ3c.901G>T (p.Glu301Ter)
c.541G>T (p.Glu181Ter)
c.574G>T (p.Glu192Ter)
c.551G>T
n.679G>T
c.538G>T (p.Glu180Ter)
c.-256G>T (n.-256G>T)
c.193G>T (p.Glu65Ter)
c.679G>T (p.Glu227Ter)
8g.132175485C>GCA372290359KCNQ3c.901G>C (p.Glu301Gln)
c.541G>C (p.Glu181Gln)
c.574G>C (p.Glu192Gln)
c.551G>C
n.679G>C
c.538G>C (p.Glu180Gln)
c.-256G>C (n.-256G>C)
c.193G>C (p.Glu65Gln)
c.679G>C (p.Glu227Gln)
8g.132175485C>TCA372290360KCNQ3c.901G>A (p.Glu301Lys)
c.541G>A (p.Glu181Lys)
c.574G>A (p.Glu192Lys)
c.551G>A
n.679G>A
c.538G>A (p.Glu180Lys)
c.-256G>A (n.-256G>A)
c.193G>A (p.Glu65Lys)
c.679G>A (p.Glu227Lys)
8g.132175486A>CCA372290362KCNQ3c.900T>G (p.Phe300Leu)
c.540T>G (p.Phe180Leu)
c.573T>G (p.Phe191Leu)
c.550T>G
n.678T>G
c.537T>G (p.Phe179Leu)
c.-257T>G (n.-257T>G)
c.192T>G (p.Phe64Leu)
c.678T>G (p.Phe226Leu)
 COSMIC
8g.132175486A>GCA463070364KCNQ3c.900T>C (p.Phe300=)
c.540T>C (p.Phe180=)
c.573T>C (p.Phe191=)
c.550T>C
n.678T>C
c.537T>C (p.Phe179=)
c.-257T>C (n.-257T>C)
c.192T>C (p.Phe64=)
c.678T>C (p.Phe226=)
 gnomAD v4
8g.132175486A>TCA372290361KCNQ3c.900T>A (p.Phe300Leu)
c.540T>A (p.Phe180Leu)
c.573T>A (p.Phe191Leu)
c.550T>A
n.678T>A
c.537T>A (p.Phe179Leu)
c.-257T>A (n.-257T>A)
c.192T>A (p.Phe64Leu)
c.678T>A (p.Phe226Leu)
8g.132175487A=CA1820664526KCNQ3c.899T= (p.Phe300=)
c.539T= (p.Phe180=)
c.572T= (p.Phe191=)
c.549T=
n.677T=
c.536T= (p.Phe179=)
c.-258T= (n.-258T=)
c.191T= (p.Phe64=)
c.677T= (p.Phe226=)
8g.132175487A>CCA372290363KCNQ3c.899T>G (p.Phe300Cys)
c.539T>G (p.Phe180Cys)
c.572T>G (p.Phe191Cys)
c.549T>G
n.677T>G
c.536T>G (p.Phe179Cys)
c.-258T>G (n.-258T>G)
c.191T>G (p.Phe64Cys)
c.677T>G (p.Phe226Cys)
 ClinVar dbSNP
8g.132175487A>GCA372290365KCNQ3c.899T>C (p.Phe300Ser)
c.539T>C (p.Phe180Ser)
c.572T>C (p.Phe191Ser)
c.549T>C
n.677T>C
c.536T>C (p.Phe179Ser)
c.-258T>C (n.-258T>C)
c.191T>C (p.Phe64Ser)
c.677T>C (p.Phe226Ser)
 ClinVar dbSNP
8g.132175487A>TCA372290364KCNQ3c.899T>A (p.Phe300Tyr)
c.539T>A (p.Phe180Tyr)
c.572T>A (p.Phe191Tyr)
c.549T>A
n.677T>A
c.536T>A (p.Phe179Tyr)
c.-258T>A (n.-258T>A)
c.191T>A (p.Phe64Tyr)
c.677T>A (p.Phe226Tyr)
8g.132175488A>CCA372290366KCNQ3c.898T>G (p.Phe300Val)
c.538T>G (p.Phe180Val)
c.571T>G (p.Phe191Val)
c.548T>G
n.676T>G
c.535T>G (p.Phe179Val)
c.-259T>G (n.-259T>G)
c.190T>G (p.Phe64Val)
c.676T>G (p.Phe226Val)
8g.132175488A>GCA372290367KCNQ3c.898T>C (p.Phe300Leu)
c.538T>C (p.Phe180Leu)
c.571T>C (p.Phe191Leu)
c.548T>C
n.676T>C
c.535T>C (p.Phe179Leu)
c.-259T>C (n.-259T>C)
c.190T>C (p.Phe64Leu)
c.676T>C (p.Phe226Leu)
8g.132175488A>TCA372290368KCNQ3c.898T>A (p.Phe300Ile)
c.538T>A (p.Phe180Ile)
c.571T>A (p.Phe191Ile)
c.548T>A
n.676T>A
c.535T>A (p.Phe179Ile)
c.-259T>A (n.-259T>A)
c.190T>A (p.Phe64Ile)
c.676T>A (p.Phe226Ile)
8g.132175489C>ACA372290369KCNQ3c.897G>T (p.Glu299Asp)
c.537G>T (p.Glu179Asp)
c.570G>T (p.Glu190Asp)
c.547G>T
n.675G>T
c.534G>T (p.Glu178Asp)
c.-260G>T (n.-260G>T)
c.189G>T (p.Glu63Asp)
c.675G>T (p.Glu225Asp)
8g.132175489C=CA1820664527KCNQ3c.897G= (p.Glu299=)
c.537G= (p.Glu179=)
c.570G= (p.Glu190=)
c.547G=
n.675G=
c.534G= (p.Glu178=)
c.-260G= (n.-260G=)
c.189G= (p.Glu63=)
c.675G= (p.Glu225=)
8g.132175489C>GCA372290370KCNQ3c.897G>C (p.Glu299Asp)
c.537G>C (p.Glu179Asp)
c.570G>C (p.Glu190Asp)
c.547G>C
n.675G>C
c.534G>C (p.Glu178Asp)
c.-260G>C (n.-260G>C)
c.189G>C (p.Glu63Asp)
c.675G>C (p.Glu225Asp)
8g.132175489C>TCA4880818KCNQ3c.897G>A (p.Glu299=)
c.537G>A (p.Glu179=)
c.570G>A (p.Glu190=)
c.547G>A
n.675G>A
c.534G>A (p.Glu178=)
c.-260G>A (n.-260G>A)
c.189G>A (p.Glu63=)
c.675G>A (p.Glu225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132175490T>ACA372290371KCNQ3c.896A>T (p.Glu299Val)
c.536A>T (p.Glu179Val)
c.569A>T (p.Glu190Val)
c.546A>T
n.674A>T
c.533A>T (p.Glu178Val)
c.-261A>T (n.-261A>T)
c.188A>T (p.Glu63Val)
c.674A>T (p.Glu225Val)
 ClinVar
8g.132175490T>CCA372290372KCNQ3c.896A>G (p.Glu299Gly)
c.536A>G (p.Glu179Gly)
c.569A>G (p.Glu190Gly)
c.546A>G
n.674A>G
c.533A>G (p.Glu178Gly)
c.-261A>G (n.-261A>G)
c.188A>G (p.Glu63Gly)
c.674A>G (p.Glu225Gly)
8g.132175490T>GCA372290373KCNQ3c.896A>C (p.Glu299Ala)
c.536A>C (p.Glu179Ala)
c.569A>C (p.Glu190Ala)
c.546A>C
n.674A>C
c.533A>C (p.Glu178Ala)
c.-261A>C (n.-261A>C)
c.188A>C (p.Glu63Ala)
c.674A>C (p.Glu225Ala)
8g.132175491C>ACA372290374KCNQ3c.895G>T (p.Glu299Ter)
c.535G>T (p.Glu179Ter)
c.568G>T (p.Glu190Ter)
c.545G>T
n.673G>T
c.532G>T (p.Glu178Ter)
c.-262G>T (n.-262G>T)
c.187G>T (p.Glu63Ter)
c.673G>T (p.Glu225Ter)
8g.132175491C=CA1820664528KCNQ3c.895G= (p.Glu299=)
c.535G= (p.Glu179=)
c.568G= (p.Glu190=)
c.545G=
n.673G=
c.532G= (p.Glu178=)
c.-262G= (n.-262G=)
c.187G= (p.Glu63=)
c.673G= (p.Glu225=)
8g.132175491C>GCA372290375KCNQ3c.895G>C (p.Glu299Gln)
c.535G>C (p.Glu179Gln)
c.568G>C (p.Glu190Gln)
c.545G>C
n.673G>C
c.532G>C (p.Glu178Gln)
c.-262G>C (n.-262G>C)
c.187G>C (p.Glu63Gln)
c.673G>C (p.Glu225Gln)
8g.132175491C>TCA342039KCNQ3c.895G>A (p.Glu299Lys)
c.535G>A (p.Glu179Lys)
c.568G>A (p.Glu190Lys)
c.545G>A
n.673G>A
c.532G>A (p.Glu178Lys)
c.-262G>A (n.-262G>A)
c.187G>A (p.Glu63Lys)
c.673G>A (p.Glu225Lys)
 ClinVar dbSNP
8g.132175492C>ACA372290377KCNQ3c.894G>T (p.Glu298Asp)
c.534G>T (p.Glu178Asp)
c.567G>T (p.Glu189Asp)
c.544G>T
n.672G>T
c.531G>T (p.Glu177Asp)
c.-263G>T (n.-263G>T)
c.186G>T (p.Glu62Asp)
c.672G>T (p.Glu224Asp)
8g.132175492C=CA1820664529KCNQ3c.894G= (p.Glu298=)
c.534G= (p.Glu178=)
c.567G= (p.Glu189=)
c.544G=
n.672G=
c.531G= (p.Glu177=)
c.-263G= (n.-263G=)
c.186G= (p.Glu62=)
c.672G= (p.Glu224=)
8g.132175492C>GCA372290376KCNQ3c.894G>C (p.Glu298Asp)
c.534G>C (p.Glu178Asp)
c.567G>C (p.Glu189Asp)
c.544G>C
n.672G>C
c.531G>C (p.Glu177Asp)
c.-263G>C (n.-263G>C)
c.186G>C (p.Glu62Asp)
c.672G>C (p.Glu224Asp)
 gnomAD v4
8g.132175492C>TCA463070365KCNQ3c.894G>A (p.Glu298=)
c.534G>A (p.Glu178=)
c.567G>A (p.Glu189=)
c.544G>A
n.672G>A
c.531G>A (p.Glu177=)
c.-263G>A (n.-263G>A)
c.186G>A (p.Glu62=)
c.672G>A (p.Glu224=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132175493delCA2580078584KCNQ3c.893del (p.Glu298GlyfsTer14)
c.533del (p.Glu178GlyfsTer14)
c.566del (p.Glu189GlyfsTer14)
c.543del
n.671del
c.530del (p.Glu177GlyfsTer14)
c.-264del (n.-264del)
c.185del (p.Glu62GlyfsTer14)
c.671del (p.Glu224GlyfsTer14)
 ClinVar
8g.132175493T>ACA372290378KCNQ3c.893A>T (p.Glu298Val)
c.533A>T (p.Glu178Val)
c.566A>T (p.Glu189Val)
c.543A>T
n.671A>T
c.530A>T (p.Glu177Val)
c.-264A>T (n.-264A>T)
c.185A>T (p.Glu62Val)
c.671A>T (p.Glu224Val)
8g.132175493T>CCA372290379KCNQ3c.893A>G (p.Glu298Gly)
c.533A>G (p.Glu178Gly)
c.566A>G (p.Glu189Gly)
c.543A>G
n.671A>G
c.530A>G (p.Glu177Gly)
c.-264A>G (n.-264A>G)
c.185A>G (p.Glu62Gly)
c.671A>G (p.Glu224Gly)
 dbSNP
8g.132175493T>GCA372290380KCNQ3c.893A>C (p.Glu298Ala)
c.533A>C (p.Glu178Ala)
c.566A>C (p.Glu189Ala)
c.543A>C
n.671A>C
c.530A>C (p.Glu177Ala)
c.-264A>C (n.-264A>C)
c.185A>C (p.Glu62Ala)
c.671A>C (p.Glu224Ala)
8g.132175493T=CA1820664530KCNQ3c.893A= (p.Glu298=)
c.533A= (p.Glu178=)
c.566A= (p.Glu189=)
c.543A=
n.671A=
c.530A= (p.Glu177=)
c.-264A= (n.-264A=)
c.185A= (p.Glu62=)
c.671A= (p.Glu224=)
8g.132175494C>ACA372290381KCNQ3c.892G>T (p.Glu298Ter)
c.532G>T (p.Glu178Ter)
c.565G>T (p.Glu189Ter)
c.542G>T
n.670G>T
c.529G>T (p.Glu177Ter)
c.-265G>T (n.-265G>T)
c.184G>T (p.Glu62Ter)
c.670G>T (p.Glu224Ter)
8g.132175494C>GCA372290382KCNQ3c.892G>C (p.Glu298Gln)
c.532G>C (p.Glu178Gln)
c.565G>C (p.Glu189Gln)
c.542G>C
n.670G>C
c.529G>C (p.Glu177Gln)
c.-265G>C (n.-265G>C)
c.184G>C (p.Glu62Gln)
c.670G>C (p.Glu224Gln)
8g.132175494C>TCA372290383KCNQ3c.892G>A (p.Glu298Lys)
c.532G>A (p.Glu178Lys)
c.565G>A (p.Glu189Lys)
c.542G>A
n.670G>A
c.529G>A (p.Glu177Lys)
c.-265G>A (n.-265G>A)
c.184G>A (p.Glu62Lys)
c.670G>A (p.Glu224Lys)
8g.132175495T>ACA372290384KCNQ3c.891A>T (p.Lys297Asn)
c.531A>T (p.Lys177Asn)
c.564A>T (p.Lys188Asn)
c.541A>T
n.669A>T
c.528A>T (p.Lys176Asn)
c.-266A>T (n.-266A>T)
c.183A>T (p.Lys61Asn)
c.669A>T (p.Lys223Asn)
8g.132175495T>CCA4880819KCNQ3c.891A>G (p.Lys297=)
c.531A>G (p.Lys177=)
c.564A>G (p.Lys188=)
c.541A>G
n.669A>G
c.528A>G (p.Lys176=)
c.-266A>G (n.-266A>G)
c.183A>G (p.Lys61=)
c.669A>G (p.Lys223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132175495T>GCA372290385KCNQ3c.891A>C (p.Lys297Asn)
c.531A>C (p.Lys177Asn)
c.564A>C (p.Lys188Asn)
c.541A>C
n.669A>C
c.528A>C (p.Lys176Asn)
c.-266A>C (n.-266A>C)
c.183A>C (p.Lys61Asn)
c.669A>C (p.Lys223Asn)
8g.132175495T=CA1820664531KCNQ3c.891A= (p.Lys297=)
c.531A= (p.Lys177=)
c.564A= (p.Lys188=)
c.541A=
n.669A=
c.528A= (p.Lys176=)
c.-266A= (n.-266A=)
c.183A= (p.Lys61=)
c.669A= (p.Lys223=)
8g.132175496T>ACA372290386KCNQ3c.890A>T (p.Lys297Ile)
c.530A>T (p.Lys177Ile)
c.563A>T (p.Lys188Ile)
c.540A>T
n.668A>T
c.527A>T (p.Lys176Ile)
c.-267A>T (n.-267A>T)
c.182A>T (p.Lys61Ile)
c.668A>T (p.Lys223Ile)
8g.132175496T>CCA372290387KCNQ3c.890A>G (p.Lys297Arg)
c.530A>G (p.Lys177Arg)
c.563A>G (p.Lys188Arg)
c.540A>G
n.668A>G
c.527A>G (p.Lys176Arg)
c.-267A>G (n.-267A>G)
c.182A>G (p.Lys61Arg)
c.668A>G (p.Lys223Arg)
8g.132175496T>GCA372290388KCNQ3c.890A>C (p.Lys297Thr)
c.530A>C (p.Lys177Thr)
c.563A>C (p.Lys188Thr)
c.540A>C
n.668A>C
c.527A>C (p.Lys176Thr)
c.-267A>C (n.-267A>C)
c.182A>C (p.Lys61Thr)
c.668A>C (p.Lys223Thr)
8g.132175497T>ACA372290391KCNQ3c.889A>T (p.Lys297Ter)
c.529A>T (p.Lys177Ter)
c.562A>T (p.Lys188Ter)
c.539A>T
n.667A>T
c.526A>T (p.Lys176Ter)
c.-268A>T (n.-268A>T)
c.181A>T (p.Lys61Ter)
c.667A>T (p.Lys223Ter)
8g.132175497T>CCA372290390KCNQ3c.889A>G (p.Lys297Glu)
c.529A>G (p.Lys177Glu)
c.562A>G (p.Lys188Glu)
c.539A>G
n.667A>G
c.526A>G (p.Lys176Glu)
c.-268A>G (n.-268A>G)
c.181A>G (p.Lys61Glu)
c.667A>G (p.Lys223Glu)
 ClinVar dbSNP gnomAD v4
8g.132175497T>GCA372290389KCNQ3c.889A>C (p.Lys297Gln)
c.529A>C (p.Lys177Gln)
c.562A>C (p.Lys188Gln)
c.539A>C
n.667A>C
c.526A>C (p.Lys176Gln)
c.-268A>C (n.-268A>C)
c.181A>C (p.Lys61Gln)
c.667A>C (p.Lys223Gln)
8g.132175497T=CA1820664532KCNQ3c.889A= (p.Lys297=)
c.529A= (p.Lys177=)
c.562A= (p.Lys188=)
c.539A=
n.667A=
c.526A= (p.Lys176=)
c.-268A= (n.-268A=)
c.181A= (p.Lys61=)
c.667A= (p.Lys223=)
8g.132175498C>ACA372290392KCNQ3c.888G>T (p.Met296Ile)
c.528G>T (p.Met176Ile)
c.561G>T (p.Met187Ile)
c.538G>T
n.666G>T
c.525G>T (p.Met175Ile)
c.-269G>T (n.-269G>T)
c.180G>T (p.Met60Ile)
c.666G>T (p.Met222Ile)
8g.132175498C=CA1820664533KCNQ3c.888G= (p.Met296=)
c.528G= (p.Met176=)
c.561G= (p.Met187=)
c.538G=
n.666G=
c.525G= (p.Met175=)
c.-269G= (n.-269G=)
c.180G= (p.Met60=)
c.666G= (p.Met222=)
8g.132175498C>GCA372290393KCNQ3c.888G>C (p.Met296Ile)
c.528G>C (p.Met176Ile)
c.561G>C (p.Met187Ile)
c.538G>C
n.666G>C
c.525G>C (p.Met175Ile)
c.-269G>C (n.-269G>C)
c.180G>C (p.Met60Ile)
c.666G>C (p.Met222Ile)
8g.132175498C>TCA372290394KCNQ3c.888G>A (p.Met296Ile)
c.528G>A (p.Met176Ile)
c.561G>A (p.Met187Ile)
c.538G>A
n.666G>A
c.525G>A (p.Met175Ile)
c.-269G>A (n.-269G>A)
c.180G>A (p.Met60Ile)
c.666G>A (p.Met222Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132175499A>CCA372290395KCNQ3c.887T>G (p.Met296Arg)
c.527T>G (p.Met176Arg)
c.560T>G (p.Met187Arg)
c.537T>G
n.665T>G
c.524T>G (p.Met175Arg)
c.-270T>G (n.-270T>G)
c.179T>G (p.Met60Arg)
c.665T>G (p.Met222Arg)
 gnomAD v4
8g.132175499A>GCA372290396KCNQ3c.887T>C (p.Met296Thr)
c.527T>C (p.Met176Thr)
c.560T>C (p.Met187Thr)
c.537T>C
n.665T>C
c.524T>C (p.Met175Thr)
c.-270T>C (n.-270T>C)
c.179T>C (p.Met60Thr)
c.665T>C (p.Met222Thr)
8g.132175499A>TCA372290397KCNQ3c.887T>A (p.Met296Lys)
c.527T>A (p.Met176Lys)
c.560T>A (p.Met187Lys)
c.537T>A
n.665T>A
c.524T>A (p.Met175Lys)
c.-270T>A (n.-270T>A)
c.179T>A (p.Met60Lys)
c.665T>A (p.Met222Lys)
8g.132175500T>ACA372290400KCNQ3c.886A>T (p.Met296Leu)
c.526A>T (p.Met176Leu)
c.559A>T (p.Met187Leu)
c.536A>T
n.664A>T
c.523A>T (p.Met175Leu)
c.-271A>T (n.-271A>T)
c.178A>T (p.Met60Leu)
c.664A>T (p.Met222Leu)
 gnomAD v4
8g.132175500T>CCA372290398KCNQ3c.886A>G (p.Met296Val)
c.526A>G (p.Met176Val)
c.559A>G (p.Met187Val)
c.536A>G
n.664A>G
c.523A>G (p.Met175Val)
c.-271A>G (n.-271A>G)
c.178A>G (p.Met60Val)
c.664A>G (p.Met222Val)
 gnomAD v4
8g.132175500T>GCA372290399KCNQ3c.886A>C (p.Met296Leu)
c.526A>C (p.Met176Leu)
c.559A>C (p.Met187Leu)
c.536A>C
n.664A>C
c.523A>C (p.Met175Leu)
c.-271A>C (n.-271A>C)
c.178A>C (p.Met60Leu)
c.664A>C (p.Met222Leu)
8g.132175501C>ACA4880820KCNQ3c.885G>T (p.Glu295Asp)
c.525G>T (p.Glu175Asp)
c.558G>T (p.Glu186Asp)
c.535G>T
n.663G>T
c.522G>T (p.Glu174Asp)
c.-272G>T (n.-272G>T)
c.177G>T (p.Glu59Asp)
c.663G>T (p.Glu221Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132175501C=CA1820664534KCNQ3c.885G= (p.Glu295=)
c.525G= (p.Glu175=)
c.558G= (p.Glu186=)
c.535G=
n.663G=
c.522G= (p.Glu174=)
c.-272G= (n.-272G=)
c.177G= (p.Glu59=)
c.663G= (p.Glu221=)
8g.132175501C>GCA372290401KCNQ3c.885G>C (p.Glu295Asp)
c.525G>C (p.Glu175Asp)
c.558G>C (p.Glu186Asp)
c.535G>C
n.663G>C
c.522G>C (p.Glu174Asp)
c.-272G>C (n.-272G>C)
c.177G>C (p.Glu59Asp)
c.663G>C (p.Glu221Asp)
8g.132175501C>TCA463070366KCNQ3c.885G>A (p.Glu295=)
c.525G>A (p.Glu175=)
c.558G>A (p.Glu186=)
c.535G>A
n.663G>A
c.522G>A (p.Glu174=)
c.-272G>A (n.-272G>A)
c.177G>A (p.Glu59=)
c.663G>A (p.Glu221=)
8g.132175502T>ACA372290402KCNQ3c.884A>T (p.Glu295Val)
c.524A>T (p.Glu175Val)
c.557A>T (p.Glu186Val)
c.534A>T
n.662A>T
c.521A>T (p.Glu174Val)
c.-273A>T (n.-273A>T)
c.176A>T (p.Glu59Val)
c.662A>T (p.Glu221Val)
 gnomAD v4
8g.132175502T>CCA372290403KCNQ3c.884A>G (p.Glu295Gly)
c.524A>G (p.Glu175Gly)
c.557A>G (p.Glu186Gly)
c.534A>G
n.662A>G
c.521A>G (p.Glu174Gly)
c.-273A>G (n.-273A>G)
c.176A>G (p.Glu59Gly)
c.662A>G (p.Glu221Gly)
8g.132175502T>GCA372290404KCNQ3c.884A>C (p.Glu295Ala)
c.524A>C (p.Glu175Ala)
c.557A>C (p.Glu186Ala)
c.534A>C
n.662A>C
c.521A>C (p.Glu174Ala)
c.-273A>C (n.-273A>C)
c.176A>C (p.Glu59Ala)
c.662A>C (p.Glu221Ala)
8g.132175503C>ACA372290405KCNQ3c.883G>T (p.Glu295Ter)
c.523G>T (p.Glu175Ter)
c.556G>T (p.Glu186Ter)
c.533G>T
n.661G>T
c.520G>T (p.Glu174Ter)
c.-274G>T (n.-274G>T)
c.175G>T (p.Glu59Ter)
c.661G>T (p.Glu221Ter)
8g.132175503C=CA1820664535KCNQ3c.883G= (p.Glu295=)
c.523G= (p.Glu175=)
c.556G= (p.Glu186=)
c.533G=
n.661G=
c.520G= (p.Glu174=)
c.-274G= (n.-274G=)
c.175G= (p.Glu59=)
c.661G= (p.Glu221=)
8g.132175503C>GCA4880821KCNQ3c.883G>C (p.Glu295Gln)
c.523G>C (p.Glu175Gln)
c.556G>C (p.Glu186Gln)
c.533G>C
n.661G>C
c.520G>C (p.Glu174Gln)
c.-274G>C (n.-274G>C)
c.175G>C (p.Glu59Gln)
c.661G>C (p.Glu221Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132175503C>TCA372290406KCNQ3c.883G>A (p.Glu295Lys)
c.523G>A (p.Glu175Lys)
c.556G>A (p.Glu186Lys)
c.533G>A
n.661G>A
c.520G>A (p.Glu174Lys)
c.-274G>A (n.-274G>A)
c.175G>A (p.Glu59Lys)
c.661G>A (p.Glu221Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.132175504delCA2688627392KCNQ3c.883del (p.Glu295ArgfsTer2)
c.523del (p.Glu175ArgfsTer2)
c.556del (p.Glu186ArgfsTer2)
c.533del
n.661del
c.520del (p.Glu174ArgfsTer2)
c.-274del (n.-274del)
c.175del (p.Glu59ArgfsTer2)
c.661del (p.Glu221ArgfsTer2)
 gnomAD v4
8g.132175504C>ACA372290407KCNQ3c.882G>T (p.Glu294Asp)
c.522G>T (p.Glu174Asp)
c.555G>T (p.Glu185Asp)
c.532G>T
n.660G>T
c.519G>T (p.Glu173Asp)
c.-275G>T (n.-275G>T)
c.174G>T (p.Glu58Asp)
c.660G>T (p.Glu220Asp)
8g.132175504C>GCA372290408KCNQ3c.882G>C (p.Glu294Asp)
c.522G>C (p.Glu174Asp)
c.555G>C (p.Glu185Asp)
c.532G>C
n.660G>C
c.519G>C (p.Glu173Asp)
c.-275G>C (n.-275G>C)
c.174G>C (p.Glu58Asp)
c.660G>C (p.Glu220Asp)
8g.132175504C>TCA463070367KCNQ3c.882G>A (p.Glu294=)
c.522G>A (p.Glu174=)
c.555G>A (p.Glu185=)
c.532G>A
n.660G>A
c.519G>A (p.Glu173=)
c.-275G>A (n.-275G>A)
c.174G>A (p.Glu58=)
c.660G>A (p.Glu220=)
 gnomAD v4
8g.132175505T>ACA372290409KCNQ3c.881A>T (p.Glu294Val)
c.521A>T (p.Glu174Val)
c.554A>T (p.Glu185Val)
c.531A>T
n.659A>T
c.518A>T (p.Glu173Val)
c.-276A>T (n.-276A>T)
c.173A>T (p.Glu58Val)
c.659A>T (p.Glu220Val)
8g.132175505T>CCA372290410KCNQ3c.881A>G (p.Glu294Gly)
c.521A>G (p.Glu174Gly)
c.554A>G (p.Glu185Gly)
c.531A>G
n.659A>G
c.518A>G (p.Glu173Gly)
c.-276A>G (n.-276A>G)
c.173A>G (p.Glu58Gly)
c.659A>G (p.Glu220Gly)
8g.132175505T>GCA372290411KCNQ3c.881A>C (p.Glu294Ala)
c.521A>C (p.Glu174Ala)
c.554A>C (p.Glu185Ala)
c.531A>C
n.659A>C
c.518A>C (p.Glu173Ala)
c.-276A>C (n.-276A>C)
c.173A>C (p.Glu58Ala)
c.659A>C (p.Glu220Ala)
8g.132175506C>ACA372290412KCNQ3c.880G>T (p.Glu294Ter)
c.520G>T (p.Glu174Ter)
c.553G>T (p.Glu185Ter)
c.530G>T
n.658G>T
c.517G>T (p.Glu173Ter)
c.-277G>T (n.-277G>T)
c.172G>T (p.Glu58Ter)
c.658G>T (p.Glu220Ter)
8g.132175506C>GCA372290413KCNQ3c.880G>C (p.Glu294Gln)
c.520G>C (p.Glu174Gln)
c.553G>C (p.Glu185Gln)
c.530G>C
n.658G>C
c.517G>C (p.Glu173Gln)
c.-277G>C (n.-277G>C)
c.172G>C (p.Glu58Gln)
c.658G>C (p.Glu220Gln)
8g.132175506C>TCA372290414KCNQ3c.880G>A (p.Glu294Lys)
c.520G>A (p.Glu174Lys)
c.553G>A (p.Glu185Lys)
c.530G>A
n.658G>A
c.517G>A (p.Glu173Lys)
c.-277G>A (n.-277G>A)
c.172G>A (p.Glu58Lys)
c.658G>A (p.Glu220Lys)
 gnomAD v4
8g.132175507T>ACA463070370KCNQ3c.879A>T (p.Gly293=)
c.519A>T (p.Gly173=)
c.552A>T (p.Gly184=)
c.529A>T
n.657A>T
c.516A>T (p.Gly172=)
c.-278A>T (n.-278A>T)
c.171A>T (p.Gly57=)
c.657A>T (p.Gly219=)
8g.132175507T>CCA463070369KCNQ3c.879A>G (p.Gly293=)
c.519A>G (p.Gly173=)
c.552A>G (p.Gly184=)
c.529A>G
n.657A>G
c.516A>G (p.Gly172=)
c.-278A>G (n.-278A>G)
c.171A>G (p.Gly57=)
c.657A>G (p.Gly219=)
 COSMIC
8g.132175507T>GCA463070368KCNQ3c.879A>C (p.Gly293=)
c.519A>C (p.Gly173=)
c.552A>C (p.Gly184=)
c.529A>C
n.657A>C
c.516A>C (p.Gly172=)
c.-278A>C (n.-278A>C)
c.171A>C (p.Gly57=)
c.657A>C (p.Gly219=)
8g.132175508C>ACA372290415KCNQ3c.878G>T (p.Gly293Val)
c.518G>T (p.Gly173Val)
c.551G>T (p.Gly184Val)
c.528G>T
n.656G>T
c.515G>T (p.Gly172Val)
c.-279G>T (n.-279G>T)
c.170G>T (p.Gly57Val)
c.656G>T (p.Gly219Val)
 ClinVar dbSNP gnomAD v4
8g.132175508C=CA1820664536KCNQ3c.878G= (p.Gly293=)
c.518G= (p.Gly173=)
c.551G= (p.Gly184=)
c.528G=
n.656G=
c.515G= (p.Gly172=)
c.-279G= (n.-279G=)
c.170G= (p.Gly57=)
c.656G= (p.Gly219=)
8g.132175508C>GCA372290416KCNQ3c.878G>C (p.Gly293Ala)
c.518G>C (p.Gly173Ala)
c.551G>C (p.Gly184Ala)
c.528G>C
n.656G>C
c.515G>C (p.Gly172Ala)
c.-279G>C (n.-279G>C)
c.170G>C (p.Gly57Ala)
c.656G>C (p.Gly219Ala)
8g.132175508C>TCA16618601KCNQ3c.878G>A (p.Gly293Glu)
c.518G>A (p.Gly173Glu)
c.551G>A (p.Gly184Glu)
c.528G>A
n.656G>A
c.515G>A (p.Gly172Glu)
c.-279G>A (n.-279G>A)
c.170G>A (p.Gly57Glu)
c.656G>A (p.Gly219Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132175509C>ACA372290419KCNQ3c.877G>T (p.Gly293Ter)
c.517G>T (p.Gly173Ter)
c.550G>T (p.Gly184Ter)
c.527G>T
n.655G>T
c.514G>T (p.Gly172Ter)
c.-280G>T (n.-280G>T)
c.169G>T (p.Gly57Ter)
c.655G>T (p.Gly219Ter)
8g.132175509C>GCA372290418KCNQ3c.877G>C (p.Gly293Arg)
c.517G>C (p.Gly173Arg)
c.550G>C (p.Gly184Arg)
c.527G>C
n.655G>C
c.514G>C (p.Gly172Arg)
c.-280G>C (n.-280G>C)
c.169G>C (p.Gly57Arg)
c.655G>C (p.Gly219Arg)
8g.132175509C>TCA372290417KCNQ3c.877G>A (p.Gly293Arg)
c.517G>A (p.Gly173Arg)
c.550G>A (p.Gly184Arg)
c.527G>A
n.655G>A
c.514G>A (p.Gly172Arg)
c.-280G>A (n.-280G>A)
c.169G>A (p.Gly57Arg)
c.655G>A (p.Gly219Arg)
 gnomAD v4 COSMIC
8g.132175510T>ACA372290420KCNQ3c.876A>T (p.Gln292His)
c.516A>T (p.Gln172His)
c.549A>T (p.Gln183His)
c.526A>T
n.654A>T
c.513A>T (p.Gln171His)
c.-281A>T (n.-281A>T)
c.168A>T (p.Gln56His)
c.654A>T (p.Gln218His)
8g.132175510T>CCA463070371KCNQ3c.876A>G (p.Gln292=)
c.516A>G (p.Gln172=)
c.549A>G (p.Gln183=)
c.526A>G
n.654A>G
c.513A>G (p.Gln171=)
c.-281A>G (n.-281A>G)
c.168A>G (p.Gln56=)
c.654A>G (p.Gln218=)
8g.132175510T>GCA372290421KCNQ3c.876A>C (p.Gln292His)
c.516A>C (p.Gln172His)
c.549A>C (p.Gln183His)
c.526A>C
n.654A>C
c.513A>C (p.Gln171His)
c.-281A>C (n.-281A>C)
c.168A>C (p.Gln56His)
c.654A>C (p.Gln218His)
8g.132175511T>ACA372290422KCNQ3c.875A>T (p.Gln292Leu)
c.515A>T (p.Gln172Leu)
c.548A>T (p.Gln183Leu)
c.525A>T
n.653A>T
c.512A>T (p.Gln171Leu)
c.-282A>T (n.-282A>T)
c.167A>T (p.Gln56Leu)
c.653A>T (p.Gln218Leu)
8g.132175511T>CCA372290424KCNQ3c.875A>G (p.Gln292Arg)
c.515A>G (p.Gln172Arg)
c.548A>G (p.Gln183Arg)
c.525A>G
n.653A>G
c.512A>G (p.Gln171Arg)
c.-282A>G (n.-282A>G)
c.167A>G (p.Gln56Arg)
c.653A>G (p.Gln218Arg)
8g.132175511T>GCA372290423KCNQ3c.875A>C (p.Gln292Pro)
c.515A>C (p.Gln172Pro)
c.548A>C (p.Gln183Pro)
c.525A>C
n.653A>C
c.512A>C (p.Gln171Pro)
c.-282A>C (n.-282A>C)
c.167A>C (p.Gln56Pro)
c.653A>C (p.Gln218Pro)
8g.132175512G>ACA372290425KCNQ3c.874C>T (p.Gln292Ter)
c.514C>T (p.Gln172Ter)
c.547C>T (p.Gln183Ter)
c.524C>T
n.652C>T
c.511C>T (p.Gln171Ter)
c.-283C>T (n.-283C>T)
c.166C>T (p.Gln56Ter)
c.652C>T (p.Gln218Ter)
8g.132175512G>CCA372290427KCNQ3c.874C>G (p.Gln292Glu)
c.514C>G (p.Gln172Glu)
c.547C>G (p.Gln183Glu)
c.524C>G
n.652C>G
c.511C>G (p.Gln171Glu)
c.-283C>G (n.-283C>G)
c.166C>G (p.Gln56Glu)
c.652C>G (p.Gln218Glu)
8g.132175512G>TCA372290426KCNQ3c.874C>A (p.Gln292Lys)
c.514C>A (p.Gln172Lys)
c.547C>A (p.Gln183Lys)
c.524C>A
n.652C>A
c.511C>A (p.Gln171Lys)
c.-283C>A (n.-283C>A)
c.166C>A (p.Gln56Lys)
c.652C>A (p.Gln218Lys)
 gnomAD v4
8g.132175513T>ACA463070372KCNQ3c.873A>T (p.Ala291=)
c.513A>T (p.Ala171=)
c.546A>T (p.Ala182=)
c.523A>T
n.651A>T
c.510A>T (p.Ala170=)
c.-284A>T (n.-284A>T)
c.165A>T (p.Ala55=)
c.651A>T (p.Ala217=)
8g.132175513T>CCA463070373KCNQ3c.873A>G (p.Ala291=)
c.513A>G (p.Ala171=)
c.546A>G (p.Ala182=)
c.523A>G
n.651A>G
c.510A>G (p.Ala170=)
c.-284A>G (n.-284A>G)
c.165A>G (p.Ala55=)
c.651A>G (p.Ala217=)
8g.132175513T>GCA463070374KCNQ3c.873A>C (p.Ala291=)
c.513A>C (p.Ala171=)
c.546A>C (p.Ala182=)
c.523A>C
n.651A>C
c.510A>C (p.Ala170=)
c.-284A>C (n.-284A>C)
c.165A>C (p.Ala55=)
c.651A>C (p.Ala217=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132175513T=CA1820664537KCNQ3c.873A= (p.Ala291=)
c.513A= (p.Ala171=)
c.546A= (p.Ala182=)
c.523A=
n.651A=
c.510A= (p.Ala170=)
c.-284A= (n.-284A=)
c.165A= (p.Ala55=)
c.651A= (p.Ala217=)
8g.132175514G>ACA372290428KCNQ3c.872C>T (p.Ala291Val)
c.512C>T (p.Ala171Val)
c.545C>T (p.Ala182Val)
c.522C>T
n.650C>T
c.509C>T (p.Ala170Val)
c.-285C>T (n.-285C>T)
c.164C>T (p.Ala55Val)
c.650C>T (p.Ala217Val)
8g.132175514G>CCA372290430KCNQ3c.872C>G (p.Ala291Gly)
c.512C>G (p.Ala171Gly)
c.545C>G (p.Ala182Gly)
c.522C>G
n.650C>G
c.509C>G (p.Ala170Gly)
c.-285C>G (n.-285C>G)
c.164C>G (p.Ala55Gly)
c.650C>G (p.Ala217Gly)
8g.132175514G>TCA372290429KCNQ3c.872C>A (p.Ala291Glu)
c.512C>A (p.Ala171Glu)
c.545C>A (p.Ala182Glu)
c.522C>A
n.650C>A
c.509C>A (p.Ala170Glu)
c.-285C>A (n.-285C>A)
c.164C>A (p.Ala55Glu)
c.650C>A (p.Ala217Glu)
8g.132175515C>ACA372290431KCNQ3c.871G>T (p.Ala291Ser)
c.511G>T (p.Ala171Ser)
c.544G>T (p.Ala182Ser)
c.521G>T
n.649G>T
c.508G>T (p.Ala170Ser)
c.-286G>T (n.-286G>T)
c.163G>T (p.Ala55Ser)
c.649G>T (p.Ala217Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.132175515C=CA1820664538KCNQ3c.871G= (p.Ala291=)
c.511G= (p.Ala171=)
c.544G= (p.Ala182=)
c.521G=
n.649G=
c.508G= (p.Ala170=)
c.-286G= (n.-286G=)
c.163G= (p.Ala55=)
c.649G= (p.Ala217=)
8g.132175515C>GCA372290432KCNQ3c.871G>C (p.Ala291Pro)
c.511G>C (p.Ala171Pro)
c.544G>C (p.Ala182Pro)
c.521G>C
n.649G>C
c.508G>C (p.Ala170Pro)
c.-286G>C (n.-286G>C)
c.163G>C (p.Ala55Pro)
c.649G>C (p.Ala217Pro)
8g.132175515C>TCA372290433KCNQ3c.871G>A (p.Ala291Thr)
c.511G>A (p.Ala171Thr)
c.544G>A (p.Ala182Thr)
c.521G>A
n.649G>A
c.508G>A (p.Ala170Thr)
c.-286G>A (n.-286G>A)
c.163G>A (p.Ala55Thr)
c.649G>A (p.Ala217Thr)
 gnomAD v4
8g.132175516A=CA1820664539KCNQ3c.870T= (p.Asp290=)
c.510T= (p.Asp170=)
c.543T= (p.Asp181=)
c.520T=
n.648T=
c.507T= (p.Asp169=)
c.-287T= (n.-287T=)
c.162T= (p.Asp54=)
c.648T= (p.Asp216=)
8g.132175516A>CCA4880822KCNQ3c.870T>G (p.Asp290Glu)
c.510T>G (p.Asp170Glu)
c.543T>G (p.Asp181Glu)
c.520T>G
n.648T>G
c.507T>G (p.Asp169Glu)
c.-287T>G (n.-287T>G)
c.162T>G (p.Asp54Glu)
c.648T>G (p.Asp216Glu)
 dbSNP ExAC gnomAD v4
8g.132175516A>GCA463070375KCNQ3c.870T>C (p.Asp290=)
c.510T>C (p.Asp170=)
c.543T>C (p.Asp181=)
c.520T>C
n.648T>C
c.507T>C (p.Asp169=)
c.-287T>C (n.-287T>C)
c.162T>C (p.Asp54=)
c.648T>C (p.Asp216=)
 gnomAD v4
8g.132175516A>TCA372290434KCNQ3c.870T>A (p.Asp290Glu)
c.510T>A (p.Asp170Glu)
c.543T>A (p.Asp181Glu)
c.520T>A
n.648T>A
c.507T>A (p.Asp169Glu)
c.-287T>A (n.-287T>A)
c.162T>A (p.Asp54Glu)
c.648T>A (p.Asp216Glu)
8g.132175517T>ACA372290435KCNQ3c.869A>T (p.Asp290Val)
c.509A>T (p.Asp170Val)
c.542A>T (p.Asp181Val)
c.519A>T
n.647A>T
c.506A>T (p.Asp169Val)
c.-288A>T (n.-288A>T)
c.161A>T (p.Asp54Val)
c.647A>T (p.Asp216Val)
8g.132175517T>CCA372290436KCNQ3c.869A>G (p.Asp290Gly)
c.509A>G (p.Asp170Gly)
c.542A>G (p.Asp181Gly)
c.519A>G
n.647A>G
c.506A>G (p.Asp169Gly)
c.-288A>G (n.-288A>G)
c.161A>G (p.Asp54Gly)
c.647A>G (p.Asp216Gly)
8g.132175517T>GCA372290437KCNQ3c.869A>C (p.Asp290Ala)
c.509A>C (p.Asp170Ala)
c.542A>C (p.Asp181Ala)
c.519A>C
n.647A>C
c.506A>C (p.Asp169Ala)
c.-288A>C (n.-288A>C)
c.161A>C (p.Asp54Ala)
c.647A>C (p.Asp216Ala)

Number of alleles fetched