Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947163_150948277delCA1139660328KCNH2n.3525+167_3986-109del
c.2692+167_3153-109del
c.1672+167_2133-109del
c.2392+167_2853-109del
c.2542+167_3003-109del
c.2515+167_2976-109del
ClinVar
7g.150947279_150947284delCA2685601558KCNH2n.3985+49_3985+54del
c.3152+49_3152+54del (n.3152+49_3152+54del)
c.2132+49_2132+54del (n.2132+49_2132+54del)
c.2852+49_2852+54del (n.2852+49_2852+54del)
c.3002+49_3002+54del (n.3002+49_3002+54del)
c.2975+49_2975+54del (n.2975+49_2975+54del)
gnomAD v4
7g.150947281delCA2579062623KCNH2n.3985+48del
c.3152+48del (n.3152+48del)
c.2132+48del (n.2132+48del)
c.2852+48del (n.2852+48del)
c.3002+48del (n.3002+48del)
c.2975+48del (n.2975+48del)
gnomAD v4
7g.150947281G>ACA2685601589KCNH2n.3985+47C>T
c.3152+47C>T (n.3152+47C>T)
c.2132+47C>T (n.2132+47C>T)
c.2852+47C>T (n.2852+47C>T)
c.3002+47C>T (n.3002+47C>T)
c.2975+47C>T (n.2975+47C>T)
gnomAD v4
7g.150947281G>CCA2685601591KCNH2n.3985+47C>G
c.3152+47C>G (n.3152+47C>G)
c.2132+47C>G (n.2132+47C>G)
c.2852+47C>G (n.2852+47C>G)
c.3002+47C>G (n.3002+47C>G)
c.2975+47C>G (n.2975+47C>G)
gnomAD v4
7g.150947281G>TCA2685601594KCNH2n.3985+47C>A
c.3152+47C>A (n.3152+47C>A)
c.2132+47C>A (n.2132+47C>A)
c.2852+47C>A (n.2852+47C>A)
c.3002+47C>A (n.3002+47C>A)
c.2975+47C>A (n.2975+47C>A)
gnomAD v4
7g.150947282A=CA1752428255KCNH2n.3985+46T=
c.3152+46T= (n.3152+46T=)
c.2132+46T= (n.2132+46T=)
c.2852+46T= (n.2852+46T=)
c.3002+46T= (n.3002+46T=)
c.2975+46T= (n.2975+46T=)
7g.150947282A>CCA1752428256KCNH2n.3985+46T>G
c.3152+46T>G (n.3152+46T>G)
c.2132+46T>G (n.2132+46T>G)
c.2852+46T>G (n.2852+46T>G)
c.3002+46T>G (n.3002+46T>G)
c.2975+46T>G (n.2975+46T>G)
dbSNP
7g.150947282A>GCA2685601597KCNH2n.3985+46T>C
c.3152+46T>C (n.3152+46T>C)
c.2132+46T>C (n.2132+46T>C)
c.2852+46T>C (n.2852+46T>C)
c.3002+46T>C (n.3002+46T>C)
c.2975+46T>C (n.2975+46T>C)
gnomAD v4
7g.150947282A>TCA2579062624KCNH2n.3985+46T>A
c.3152+46T>A (n.3152+46T>A)
c.2132+46T>A (n.2132+46T>A)
c.2852+46T>A (n.2852+46T>A)
c.3002+46T>A (n.3002+46T>A)
c.2975+46T>A (n.2975+46T>A)
gnomAD v4
7g.150947283C>ACA2685601602KCNH2n.3985+45G>T
c.3152+45G>T (n.3152+45G>T)
c.2132+45G>T (n.2132+45G>T)
c.2852+45G>T (n.2852+45G>T)
c.3002+45G>T (n.3002+45G>T)
c.2975+45G>T (n.2975+45G>T)
gnomAD v4
7g.150947283C>TCA2685601601KCNH2n.3985+45G>A
c.3152+45G>A (n.3152+45G>A)
c.2132+45G>A (n.2132+45G>A)
c.2852+45G>A (n.2852+45G>A)
c.3002+45G>A (n.3002+45G>A)
c.2975+45G>A (n.2975+45G>A)
gnomAD v4
7g.150947284delCA2579062625KCNH2n.3985+45del
c.3152+45del (n.3152+45del)
c.2132+45del (n.2132+45del)
c.2852+45del (n.2852+45del)
c.3002+45del (n.3002+45del)
c.2975+45del (n.2975+45del)
gnomAD v4
7g.150947284C>ACA2685601604KCNH2n.3985+44G>T
c.3152+44G>T (n.3152+44G>T)
c.2132+44G>T (n.2132+44G>T)
c.2852+44G>T (n.2852+44G>T)
c.3002+44G>T (n.3002+44G>T)
c.2975+44G>T (n.2975+44G>T)
gnomAD v4
7g.150947284C>TCA2685601605KCNH2n.3985+44G>A
c.3152+44G>A (n.3152+44G>A)
c.2132+44G>A (n.2132+44G>A)
c.2852+44G>A (n.2852+44G>A)
c.3002+44G>A (n.3002+44G>A)
c.2975+44G>A (n.2975+44G>A)
gnomAD v4
7g.150947285A>TCA2685601607KCNH2n.3985+43T>A
c.3152+43T>A (n.3152+43T>A)
c.2132+43T>A (n.2132+43T>A)
c.2852+43T>A (n.2852+43T>A)
c.3002+43T>A (n.3002+43T>A)
c.2975+43T>A (n.2975+43T>A)
gnomAD v4
7g.150947286G>ACA2685601610KCNH2n.3985+42C>T
c.3152+42C>T (n.3152+42C>T)
c.2132+42C>T (n.2132+42C>T)
c.2852+42C>T (n.2852+42C>T)
c.3002+42C>T (n.3002+42C>T)
c.2975+42C>T (n.2975+42C>T)
gnomAD v4
7g.150947286G>CCA169071699KCNH2n.3985+42C>G
c.3152+42C>G (n.3152+42C>G)
c.2132+42C>G (n.2132+42C>G)
c.2852+42C>G (n.2852+42C>G)
c.3002+42C>G (n.3002+42C>G)
c.2975+42C>G (n.2975+42C>G)
dbSNP
7g.150947286G=CA1752428260KCNH2n.3985+42C=
c.3152+42C= (n.3152+42C=)
c.2132+42C= (n.2132+42C=)
c.2852+42C= (n.2852+42C=)
c.3002+42C= (n.3002+42C=)
c.2975+42C= (n.2975+42C=)
7g.150947286G>TCA2685601612KCNH2n.3985+42C>A
c.3152+42C>A (n.3152+42C>A)
c.2132+42C>A (n.2132+42C>A)
c.2852+42C>A (n.2852+42C>A)
c.3002+42C>A (n.3002+42C>A)
c.2975+42C>A (n.2975+42C>A)
gnomAD v4
7g.150947287A=CA1752428263KCNH2n.3985+41T=
c.3152+41T= (n.3152+41T=)
c.2132+41T= (n.2132+41T=)
c.2852+41T= (n.2852+41T=)
c.3002+41T= (n.3002+41T=)
c.2975+41T= (n.2975+41T=)
7g.150947287A>CCA1752428265KCNH2n.3985+41T>G
c.3152+41T>G (n.3152+41T>G)
c.2132+41T>G (n.2132+41T>G)
c.2852+41T>G (n.2852+41T>G)
c.3002+41T>G (n.3002+41T>G)
c.2975+41T>G (n.2975+41T>G)
dbSNP
7g.150947287A>GCA2685601617KCNH2n.3985+41T>C
c.3152+41T>C (n.3152+41T>C)
c.2132+41T>C (n.2132+41T>C)
c.2852+41T>C (n.2852+41T>C)
c.3002+41T>C (n.3002+41T>C)
c.2975+41T>C (n.2975+41T>C)
gnomAD v4
7g.150947288C>ACA2685601620KCNH2n.3985+40G>T
c.3152+40G>T (n.3152+40G>T)
c.2132+40G>T (n.2132+40G>T)
c.2852+40G>T (n.2852+40G>T)
c.3002+40G>T (n.3002+40G>T)
c.2975+40G>T (n.2975+40G>T)
gnomAD v4
7g.150947288C>TCA2685601622KCNH2n.3985+40G>A
c.3152+40G>A (n.3152+40G>A)
c.2132+40G>A (n.2132+40G>A)
c.2852+40G>A (n.2852+40G>A)
c.3002+40G>A (n.3002+40G>A)
c.2975+40G>A (n.2975+40G>A)
gnomAD v4
7g.150947289T>CCA2685601623KCNH2n.3985+39A>G
c.3152+39A>G (n.3152+39A>G)
c.2132+39A>G (n.2132+39A>G)
c.2852+39A>G (n.2852+39A>G)
c.3002+39A>G (n.3002+39A>G)
c.2975+39A>G (n.2975+39A>G)
dbSNP gnomAD v4
7g.150947289T>GCA2685601625KCNH2n.3985+39A>C
c.3152+39A>C (n.3152+39A>C)
c.2132+39A>C (n.2132+39A>C)
c.2852+39A>C (n.2852+39A>C)
c.3002+39A>C (n.3002+39A>C)
c.2975+39A>C (n.2975+39A>C)
gnomAD v4
7g.150947290C>ACA2685601633KCNH2n.3985+38G>T
c.3152+38G>T (n.3152+38G>T)
c.2132+38G>T (n.2132+38G>T)
c.2852+38G>T (n.2852+38G>T)
c.3002+38G>T (n.3002+38G>T)
c.2975+38G>T (n.2975+38G>T)
gnomAD v4
7g.150947290C>TCA2685601628KCNH2n.3985+38G>A
c.3152+38G>A (n.3152+38G>A)
c.2132+38G>A (n.2132+38G>A)
c.2852+38G>A (n.2852+38G>A)
c.3002+38G>A (n.3002+38G>A)
c.2975+38G>A (n.2975+38G>A)
gnomAD v4
7g.150947291delCA2685601631KCNH2n.3985+38del
c.3152+38del (n.3152+38del)
c.2132+38del (n.2132+38del)
c.2852+38del (n.2852+38del)
c.3002+38del (n.3002+38del)
c.2975+38del (n.2975+38del)
gnomAD v4
7g.150947291C>ACA2579062626KCNH2n.3985+37G>T
c.3152+37G>T (n.3152+37G>T)
c.2132+37G>T (n.2132+37G>T)
c.2852+37G>T (n.2852+37G>T)
c.3002+37G>T (n.3002+37G>T)
c.2975+37G>T (n.2975+37G>T)
gnomAD v4
7g.150947291C>GCA2579062627KCNH2n.3985+37G>C
c.3152+37G>C (n.3152+37G>C)
c.2132+37G>C (n.2132+37G>C)
c.2852+37G>C (n.2852+37G>C)
c.3002+37G>C (n.3002+37G>C)
c.2975+37G>C (n.2975+37G>C)
7g.150947291C>TCA2685601639KCNH2n.3985+37G>A
c.3152+37G>A (n.3152+37G>A)
c.2132+37G>A (n.2132+37G>A)
c.2852+37G>A (n.2852+37G>A)
c.3002+37G>A (n.3002+37G>A)
c.2975+37G>A (n.2975+37G>A)
gnomAD v4
7g.150947292A>GCA2685601644KCNH2n.3985+36T>C
c.3152+36T>C (n.3152+36T>C)
c.2132+36T>C (n.2132+36T>C)
c.2852+36T>C (n.2852+36T>C)
c.3002+36T>C (n.3002+36T>C)
c.2975+36T>C (n.2975+36T>C)
gnomAD v4
7g.150947292A>TCA2685601647KCNH2n.3985+36T>A
c.3152+36T>A (n.3152+36T>A)
c.2132+36T>A (n.2132+36T>A)
c.2852+36T>A (n.2852+36T>A)
c.3002+36T>A (n.3002+36T>A)
c.2975+36T>A (n.2975+36T>A)
gnomAD v4
7g.150947293G>ACA2685601651KCNH2n.3985+35C>T
c.3152+35C>T (n.3152+35C>T)
c.2132+35C>T (n.2132+35C>T)
c.2852+35C>T (n.2852+35C>T)
c.3002+35C>T (n.3002+35C>T)
c.2975+35C>T (n.2975+35C>T)
gnomAD v4
7g.150947293G>TCA2685601652KCNH2n.3985+35C>A
c.3152+35C>A (n.3152+35C>A)
c.2132+35C>A (n.2132+35C>A)
c.2852+35C>A (n.2852+35C>A)
c.3002+35C>A (n.3002+35C>A)
c.2975+35C>A (n.2975+35C>A)
gnomAD v4
7g.150947295delCA2685601649KCNH2n.3985+35del
c.3152+35del (n.3152+35del)
c.2132+35del (n.2132+35del)
c.2852+35del (n.2852+35del)
c.3002+35del (n.3002+35del)
c.2975+35del (n.2975+35del)
gnomAD v4
7g.150947294G>ACA579075330KCNH2n.3985+34C>T
c.3152+34C>T (n.3152+34C>T)
c.2132+34C>T (n.2132+34C>T)
c.2852+34C>T (n.2852+34C>T)
c.3002+34C>T (n.3002+34C>T)
c.2975+34C>T (n.2975+34C>T)
dbSNP gnomAD v2 gnomAD v4
7g.150947294G>CCA037357KCNH2n.3985+34C>G
c.3152+34C>G (n.3152+34C>G)
c.2132+34C>G (n.2132+34C>G)
c.2852+34C>G (n.2852+34C>G)
c.3002+34C>G (n.3002+34C>G)
c.2975+34C>G (n.2975+34C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947294G=CA1752428268KCNH2n.3985+34C=
c.3152+34C= (n.3152+34C=)
c.2132+34C= (n.2132+34C=)
c.2852+34C= (n.2852+34C=)
c.3002+34C= (n.3002+34C=)
c.2975+34C= (n.2975+34C=)
7g.150947294G>TCA835221030KCNH2n.3985+34C>A
c.3152+34C>A (n.3152+34C>A)
c.2132+34C>A (n.2132+34C>A)
c.2852+34C>A (n.2852+34C>A)
c.3002+34C>A (n.3002+34C>A)
c.2975+34C>A (n.2975+34C>A)
dbSNP gnomAD v3 gnomAD v4
7g.150947295G>ACA458644784KCNH2n.3985+33C>T
c.3152+33C>T (n.3152+33C>T)
c.2132+33C>T (n.2132+33C>T)
c.2852+33C>T (n.2852+33C>T)
c.3002+33C>T (n.3002+33C>T)
c.2975+33C>T (n.2975+33C>T)
dbSNP gnomAD v2 gnomAD v4
7g.150947295G=CA1752428271KCNH2n.3985+33C=
c.3152+33C= (n.3152+33C=)
c.2132+33C= (n.2132+33C=)
c.2852+33C= (n.2852+33C=)
c.3002+33C= (n.3002+33C=)
c.2975+33C= (n.2975+33C=)
7g.150947295G>TCA579075331KCNH2n.3985+33C>A
c.3152+33C>A (n.3152+33C>A)
c.2132+33C>A (n.2132+33C>A)
c.2852+33C>A (n.2852+33C>A)
c.3002+33C>A (n.3002+33C>A)
c.2975+33C>A (n.2975+33C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947296C>ACA2685601678KCNH2n.3985+32G>T
c.3152+32G>T (n.3152+32G>T)
c.2132+32G>T (n.2132+32G>T)
c.2852+32G>T (n.2852+32G>T)
c.3002+32G>T (n.3002+32G>T)
c.2975+32G>T (n.2975+32G>T)
gnomAD v4
7g.150947296C=CA1752428275KCNH2n.3985+32G=
c.3152+32G= (n.3152+32G=)
c.2132+32G= (n.2132+32G=)
c.2852+32G= (n.2852+32G=)
c.3002+32G= (n.3002+32G=)
c.2975+32G= (n.2975+32G=)
7g.150947296C>TCA037332KCNH2n.3985+32G>A
c.3152+32G>A (n.3152+32G>A)
c.2132+32G>A (n.2132+32G>A)
c.2852+32G>A (n.2852+32G>A)
c.3002+32G>A (n.3002+32G>A)
c.2975+32G>A (n.2975+32G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947297G>ACA037324KCNH2n.3985+31C>T
c.3152+31C>T (n.3152+31C>T)
c.2132+31C>T (n.2132+31C>T)
c.2852+31C>T (n.2852+31C>T)
c.3002+31C>T (n.3002+31C>T)
c.2975+31C>T (n.2975+31C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947297G>CCA2685601685KCNH2n.3985+31C>G
c.3152+31C>G (n.3152+31C>G)
c.2132+31C>G (n.2132+31C>G)
c.2852+31C>G (n.2852+31C>G)
c.3002+31C>G (n.3002+31C>G)
c.2975+31C>G (n.2975+31C>G)
gnomAD v4
7g.150947297G=CA1752428278KCNH2n.3985+31C=
c.3152+31C= (n.3152+31C=)
c.2132+31C= (n.2132+31C=)
c.2852+31C= (n.2852+31C=)
c.3002+31C= (n.3002+31C=)
c.2975+31C= (n.2975+31C=)
7g.150947297G>TCA2685601686KCNH2n.3985+31C>A
c.3152+31C>A (n.3152+31C>A)
c.2132+31C>A (n.2132+31C>A)
c.2852+31C>A (n.2852+31C>A)
c.3002+31C>A (n.3002+31C>A)
c.2975+31C>A (n.2975+31C>A)
gnomAD v4
7g.150947299G>ACA2685601691KCNH2n.3985+29C>T
c.3152+29C>T (n.3152+29C>T)
c.2132+29C>T (n.2132+29C>T)
c.2852+29C>T (n.2852+29C>T)
c.3002+29C>T (n.3002+29C>T)
c.2975+29C>T (n.2975+29C>T)
gnomAD v4
7g.150947299G=CA1752428280KCNH2n.3985+29C=
c.3152+29C= (n.3152+29C=)
c.2132+29C= (n.2132+29C=)
c.2852+29C= (n.2852+29C=)
c.3002+29C= (n.3002+29C=)
c.2975+29C= (n.2975+29C=)
7g.150947299G>TCA2685601692KCNH2n.3985+29C>A
c.3152+29C>A (n.3152+29C>A)
c.2132+29C>A (n.2132+29C>A)
c.2852+29C>A (n.2852+29C>A)
c.3002+29C>A (n.3002+29C>A)
c.2975+29C>A (n.2975+29C>A)
gnomAD v4
7g.150947299_150947300delCA2778425727KCNH2n.3985+28_3985+29del
c.3152+28_3152+29del (n.3152+28_3152+29del)
c.2132+28_2132+29del (n.2132+28_2132+29del)
c.2852+28_2852+29del (n.2852+28_2852+29del)
c.3002+28_3002+29del (n.3002+28_3002+29del)
c.2975+28_2975+29del (n.2975+28_2975+29del)
7g.150947299_150947300delinsGCCA1752428281KCNH2n.3985+28_3985+29delinsGC
c.3152+28_3152+29delinsGC (n.3152+28_3152+29delinsGC)
c.2132+28_2132+29delinsGC (n.2132+28_2132+29delinsGC)
c.2852+28_2852+29delinsGC (n.2852+28_2852+29delinsGC)
c.3002+28_3002+29delinsGC (n.3002+28_3002+29delinsGC)
c.2975+28_2975+29delinsGC (n.2975+28_2975+29delinsGC)
7g.150947300C>ACA2685601701KCNH2n.3985+28G>T
c.3152+28G>T (n.3152+28G>T)
c.2132+28G>T (n.2132+28G>T)
c.2852+28G>T (n.2852+28G>T)
c.3002+28G>T (n.3002+28G>T)
c.2975+28G>T (n.2975+28G>T)
gnomAD v4
7g.150947300C=CA1752428291KCNH2n.3985+28G=
c.3152+28G= (n.3152+28G=)
c.2132+28G= (n.2132+28G=)
c.2852+28G= (n.2852+28G=)
c.3002+28G= (n.3002+28G=)
c.2975+28G= (n.2975+28G=)
7g.150947300C>GCA037314KCNH2n.3985+28G>C
c.3152+28G>C (n.3152+28G>C)
c.2132+28G>C (n.2132+28G>C)
c.2852+28G>C (n.2852+28G>C)
c.3002+28G>C (n.3002+28G>C)
c.2975+28G>C (n.2975+28G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947300C>TCA579075333KCNH2n.3985+28G>A
c.3152+28G>A (n.3152+28G>A)
c.2132+28G>A (n.2132+28G>A)
c.2852+28G>A (n.2852+28G>A)
c.3002+28G>A (n.3002+28G>A)
c.2975+28G>A (n.2975+28G>A)
dbSNP gnomAD v2 gnomAD v4
7g.150947306dupCA4566416KCNH2n.3985+28dup
c.3152+28dup (n.3152+28dup)
c.2132+28dup (n.2132+28dup)
c.2852+28dup (n.2852+28dup)
c.3002+28dup (n.3002+28dup)
c.2975+28dup (n.2975+28dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947306delCA037286KCNH2n.3985+28del
c.3152+28del (n.3152+28del)
c.2132+28del (n.2132+28del)
c.2852+28del (n.2852+28del)
c.3002+28del (n.3002+28del)
c.2975+28del (n.2975+28del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947304_150947311dupCA579075332KCNH2n.3985+21_3985+28dup
c.3152+21_3152+28dup (n.3152+21_3152+28dup)
c.2132+21_2132+28dup (n.2132+21_2132+28dup)
c.2852+21_2852+28dup (n.2852+21_2852+28dup)
c.3002+21_3002+28dup (n.3002+21_3002+28dup)
c.2975+21_2975+28dup (n.2975+21_2975+28dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947301C>ACA2685601710KCNH2n.3985+27G>T
c.3152+27G>T (n.3152+27G>T)
c.2132+27G>T (n.2132+27G>T)
c.2852+27G>T (n.2852+27G>T)
c.3002+27G>T (n.3002+27G>T)
c.2975+27G>T (n.2975+27G>T)
gnomAD v4
7g.150947301C=CA1752428294KCNH2n.3985+27G=
c.3152+27G= (n.3152+27G=)
c.2132+27G= (n.2132+27G=)
c.2852+27G= (n.2852+27G=)
c.3002+27G= (n.3002+27G=)
c.2975+27G= (n.2975+27G=)
7g.150947301C>GCA2579062629KCNH2n.3985+27G>C
c.3152+27G>C (n.3152+27G>C)
c.2132+27G>C (n.2132+27G>C)
c.2852+27G>C (n.2852+27G>C)
c.3002+27G>C (n.3002+27G>C)
c.2975+27G>C (n.2975+27G>C)
7g.150947301C>TCA037258KCNH2n.3985+27G>A
c.3152+27G>A (n.3152+27G>A)
c.2132+27G>A (n.2132+27G>A)
c.2852+27G>A (n.2852+27G>A)
c.3002+27G>A (n.3002+27G>A)
c.2975+27G>A (n.2975+27G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947302C>ACA2685601715KCNH2n.3985+26G>T
c.3152+26G>T (n.3152+26G>T)
c.2132+26G>T (n.2132+26G>T)
c.2852+26G>T (n.2852+26G>T)
c.3002+26G>T (n.3002+26G>T)
c.2975+26G>T (n.2975+26G>T)
gnomAD v4
7g.150947302C=CA1752428300KCNH2n.3985+26G=
c.3152+26G= (n.3152+26G=)
c.2132+26G= (n.2132+26G=)
c.2852+26G= (n.2852+26G=)
c.3002+26G= (n.3002+26G=)
c.2975+26G= (n.2975+26G=)
7g.150947302C>TCA037246KCNH2n.3985+26G>A
c.3152+26G>A (n.3152+26G>A)
c.2132+26G>A (n.2132+26G>A)
c.2852+26G>A (n.2852+26G>A)
c.3002+26G>A (n.3002+26G>A)
c.2975+26G>A (n.2975+26G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.150947303C>ACA2685601718KCNH2n.3985+25G>T
c.3152+25G>T (n.3152+25G>T)
c.2132+25G>T (n.2132+25G>T)
c.2852+25G>T (n.2852+25G>T)
c.3002+25G>T (n.3002+25G>T)
c.2975+25G>T (n.2975+25G>T)
gnomAD v4
7g.150947303C=CA1752428303KCNH2n.3985+25G=
c.3152+25G= (n.3152+25G=)
c.2132+25G= (n.2132+25G=)
c.2852+25G= (n.2852+25G=)
c.3002+25G= (n.3002+25G=)
c.2975+25G= (n.2975+25G=)
7g.150947303C>TCA579075334KCNH2n.3985+25G>A
c.3152+25G>A (n.3152+25G>A)
c.2132+25G>A (n.2132+25G>A)
c.2852+25G>A (n.2852+25G>A)
c.3002+25G>A (n.3002+25G>A)
c.2975+25G>A (n.2975+25G>A)
dbSNP gnomAD v2 gnomAD v4
7g.150947304C>ACA2685601719KCNH2n.3985+24G>T
c.3152+24G>T (n.3152+24G>T)
c.2132+24G>T (n.2132+24G>T)
c.2852+24G>T (n.2852+24G>T)
c.3002+24G>T (n.3002+24G>T)
c.2975+24G>T (n.2975+24G>T)
gnomAD v4
7g.150947304C>TCA2579062630KCNH2n.3985+24G>A
c.3152+24G>A (n.3152+24G>A)
c.2132+24G>A (n.2132+24G>A)
c.2852+24G>A (n.2852+24G>A)
c.3002+24G>A (n.3002+24G>A)
c.2975+24G>A (n.2975+24G>A)
dbSNP gnomAD v4
7g.150947305C>ACA1752428307KCNH2n.3985+23G>T
c.3152+23G>T (n.3152+23G>T)
c.2132+23G>T (n.2132+23G>T)
c.2852+23G>T (n.2852+23G>T)
c.3002+23G>T (n.3002+23G>T)
c.2975+23G>T (n.2975+23G>T)
dbSNP gnomAD v4
7g.150947305C=CA1752428305KCNH2n.3985+23G=
c.3152+23G= (n.3152+23G=)
c.2132+23G= (n.2132+23G=)
c.2852+23G= (n.2852+23G=)
c.3002+23G= (n.3002+23G=)
c.2975+23G= (n.2975+23G=)
7g.150947305C>GCA579075335KCNH2n.3985+23G>C
c.3152+23G>C (n.3152+23G>C)
c.2132+23G>C (n.2132+23G>C)
c.2852+23G>C (n.2852+23G>C)
c.3002+23G>C (n.3002+23G>C)
c.2975+23G>C (n.2975+23G>C)
dbSNP gnomAD v2 gnomAD v4
7g.150947305C>TCA2685601720KCNH2n.3985+23G>A
c.3152+23G>A (n.3152+23G>A)
c.2132+23G>A (n.2132+23G>A)
c.2852+23G>A (n.2852+23G>A)
c.3002+23G>A (n.3002+23G>A)
c.2975+23G>A (n.2975+23G>A)
gnomAD v4
7g.150947306C>ACA579075336KCNH2n.3985+22G>T
c.3152+22G>T (n.3152+22G>T)
c.2132+22G>T (n.2132+22G>T)
c.2852+22G>T (n.2852+22G>T)
c.3002+22G>T (n.3002+22G>T)
c.2975+22G>T (n.2975+22G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947306C=CA1752428310KCNH2n.3985+22G=
c.3152+22G= (n.3152+22G=)
c.2132+22G= (n.2132+22G=)
c.2852+22G= (n.2852+22G=)
c.3002+22G= (n.3002+22G=)
c.2975+22G= (n.2975+22G=)
7g.150947306C>GCA037238KCNH2n.3985+22G>C
c.3152+22G>C (n.3152+22G>C)
c.2132+22G>C (n.2132+22G>C)
c.2852+22G>C (n.2852+22G>C)
c.3002+22G>C (n.3002+22G>C)
c.2975+22G>C (n.2975+22G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947306C>TCA037229KCNH2n.3985+22G>A
c.3152+22G>A (n.3152+22G>A)
c.2132+22G>A (n.2132+22G>A)
c.2852+22G>A (n.2852+22G>A)
c.3002+22G>A (n.3002+22G>A)
c.2975+22G>A (n.2975+22G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947306_150947307insTCA2685601726KCNH2n.3985+21_3985+22insA
c.3152+21_3152+22insA (n.3152+21_3152+22insA)
c.2132+21_2132+22insA (n.2132+21_2132+22insA)
c.2852+21_2852+22insA (n.2852+21_2852+22insA)
c.3002+21_3002+22insA (n.3002+21_3002+22insA)
c.2975+21_2975+22insA (n.2975+21_2975+22insA)
gnomAD v4
7g.150947307A>GCA2685601727KCNH2n.3985+21T>C
c.3152+21T>C (n.3152+21T>C)
c.2132+21T>C (n.2132+21T>C)
c.2852+21T>C (n.2852+21T>C)
c.3002+21T>C (n.3002+21T>C)
c.2975+21T>C (n.2975+21T>C)
gnomAD v4
7g.150947308C>ACA2573141843KCNH2n.3985+20G>T
c.3152+20G>T (n.3152+20G>T)
c.2132+20G>T (n.2132+20G>T)
c.2852+20G>T (n.2852+20G>T)
c.3002+20G>T (n.3002+20G>T)
c.2975+20G>T (n.2975+20G>T)
ClinVar dbSNP gnomAD v4
7g.150947308C>TCA2685601732KCNH2n.3985+20G>A
c.3152+20G>A (n.3152+20G>A)
c.2132+20G>A (n.2132+20G>A)
c.2852+20G>A (n.2852+20G>A)
c.3002+20G>A (n.3002+20G>A)
c.2975+20G>A (n.2975+20G>A)
gnomAD v4
7g.150947311delCA2685601730KCNH2n.3985+20del
c.3152+20del (n.3152+20del)
c.2132+20del (n.2132+20del)
c.2852+20del (n.2852+20del)
c.3002+20del (n.3002+20del)
c.2975+20del (n.2975+20del)
gnomAD v4
7g.150947309C>ACA2685601737KCNH2n.3985+19G>T
c.3152+19G>T (n.3152+19G>T)
c.2132+19G>T (n.2132+19G>T)
c.2852+19G>T (n.2852+19G>T)
c.3002+19G>T (n.3002+19G>T)
c.2975+19G>T (n.2975+19G>T)
gnomAD v4
7g.150947309C=CA1752428313KCNH2n.3985+19G=
c.3152+19G= (n.3152+19G=)
c.2132+19G= (n.2132+19G=)
c.2852+19G= (n.2852+19G=)
c.3002+19G= (n.3002+19G=)
c.2975+19G= (n.2975+19G=)
7g.150947309C>TCA579075337KCNH2n.3985+19G>A
c.3152+19G>A (n.3152+19G>A)
c.2132+19G>A (n.2132+19G>A)
c.2852+19G>A (n.2852+19G>A)
c.3002+19G>A (n.3002+19G>A)
c.2975+19G>A (n.2975+19G>A)
dbSNP gnomAD v2 gnomAD v4
7g.150947310C>ACA579075338KCNH2n.3985+18G>T
c.3152+18G>T (n.3152+18G>T)
c.2132+18G>T (n.2132+18G>T)
c.2852+18G>T (n.2852+18G>T)
c.3002+18G>T (n.3002+18G>T)
c.2975+18G>T (n.2975+18G>T)
dbSNP gnomAD v2 gnomAD v4
7g.150947310C=CA1752428316KCNH2n.3985+18G=
c.3152+18G= (n.3152+18G=)
c.2132+18G= (n.2132+18G=)
c.2852+18G= (n.2852+18G=)
c.3002+18G= (n.3002+18G=)
c.2975+18G= (n.2975+18G=)
7g.150947311C>ACA579075339KCNH2n.3985+17G>T
c.3152+17G>T (n.3152+17G>T)
c.2132+17G>T (n.2132+17G>T)
c.2852+17G>T (n.2852+17G>T)
c.3002+17G>T (n.3002+17G>T)
c.2975+17G>T (n.2975+17G>T)
dbSNP gnomAD v2 gnomAD v4
7g.150947311C=CA1752428318KCNH2n.3985+17G=
c.3152+17G= (n.3152+17G=)
c.2132+17G= (n.2132+17G=)
c.2852+17G= (n.2852+17G=)
c.3002+17G= (n.3002+17G=)
c.2975+17G= (n.2975+17G=)
7g.150947311C>TCA2685601747KCNH2n.3985+17G>A
c.3152+17G>A (n.3152+17G>A)
c.2132+17G>A (n.2132+17G>A)
c.2852+17G>A (n.2852+17G>A)
c.3002+17G>A (n.3002+17G>A)
c.2975+17G>A (n.2975+17G>A)
gnomAD v4
7g.150947312A=CA1752428320KCNH2n.3985+16T=
c.3152+16T= (n.3152+16T=)
c.2132+16T= (n.2132+16T=)
c.2852+16T= (n.2852+16T=)
c.3002+16T= (n.3002+16T=)
c.2975+16T= (n.2975+16T=)
7g.150947312A>CCA2716042275KCNH2n.3985+16T>G
c.3152+16T>G (n.3152+16T>G)
c.2132+16T>G (n.2132+16T>G)
c.2852+16T>G (n.2852+16T>G)
c.3002+16T>G (n.3002+16T>G)
c.2975+16T>G (n.2975+16T>G)
dbSNP
7g.150947312A>GCA2685601749KCNH2n.3985+16T>C
c.3152+16T>C (n.3152+16T>C)
c.2132+16T>C (n.2132+16T>C)
c.2852+16T>C (n.2852+16T>C)
c.3002+16T>C (n.3002+16T>C)
c.2975+16T>C (n.2975+16T>C)
gnomAD v4
7g.150947312A>TCA579075340KCNH2n.3985+16T>A
c.3152+16T>A (n.3152+16T>A)
c.2132+16T>A (n.2132+16T>A)
c.2852+16T>A (n.2852+16T>A)
c.3002+16T>A (n.3002+16T>A)
c.2975+16T>A (n.2975+16T>A)
dbSNP gnomAD v2 gnomAD v4
7g.150947313C>ACA2685601754KCNH2n.3985+15G>T
c.3152+15G>T (n.3152+15G>T)
c.2132+15G>T (n.2132+15G>T)
c.2852+15G>T (n.2852+15G>T)
c.3002+15G>T (n.3002+15G>T)
c.2975+15G>T (n.2975+15G>T)
gnomAD v4
7g.150947313C=CA1752428322KCNH2n.3985+15G=
c.3152+15G= (n.3152+15G=)
c.2132+15G= (n.2132+15G=)
c.2852+15G= (n.2852+15G=)
c.3002+15G= (n.3002+15G=)
c.2975+15G= (n.2975+15G=)
7g.150947313C>GCA579075345KCNH2n.3985+15G>C
c.3152+15G>C (n.3152+15G>C)
c.2132+15G>C (n.2132+15G>C)
c.2852+15G>C (n.2852+15G>C)
c.3002+15G>C (n.3002+15G>C)
c.2975+15G>C (n.2975+15G>C)
dbSNP gnomAD v2 gnomAD v4
7g.150947313C>TCA2685601755KCNH2n.3985+15G>A
c.3152+15G>A (n.3152+15G>A)
c.2132+15G>A (n.2132+15G>A)
c.2852+15G>A (n.2852+15G>A)
c.3002+15G>A (n.3002+15G>A)
c.2975+15G>A (n.2975+15G>A)
gnomAD v4
7g.150947314C>ACA579075346KCNH2n.3985+14G>T
c.3152+14G>T (n.3152+14G>T)
c.2132+14G>T (n.2132+14G>T)
c.2852+14G>T (n.2852+14G>T)
c.3002+14G>T (n.3002+14G>T)
c.2975+14G>T (n.2975+14G>T)
dbSNP gnomAD v2 gnomAD v4
7g.150947314C=CA1752428323KCNH2n.3985+14G=
c.3152+14G= (n.3152+14G=)
c.2132+14G= (n.2132+14G=)
c.2852+14G= (n.2852+14G=)
c.3002+14G= (n.3002+14G=)
c.2975+14G= (n.2975+14G=)
7g.150947314C>TCA2685601756KCNH2n.3985+14G>A
c.3152+14G>A (n.3152+14G>A)
c.2132+14G>A (n.2132+14G>A)
c.2852+14G>A (n.2852+14G>A)
c.3002+14G>A (n.3002+14G>A)
c.2975+14G>A (n.2975+14G>A)
gnomAD v4
7g.150947315T>ACA2685601758KCNH2n.3985+13A>T
c.3152+13A>T (n.3152+13A>T)
c.2132+13A>T (n.2132+13A>T)
c.2852+13A>T (n.2852+13A>T)
c.3002+13A>T (n.3002+13A>T)
c.2975+13A>T (n.2975+13A>T)
gnomAD v4
7g.150947315T>CCA579075347KCNH2n.3985+13A>G
c.3152+13A>G (n.3152+13A>G)
c.2132+13A>G (n.2132+13A>G)
c.2852+13A>G (n.2852+13A>G)
c.3002+13A>G (n.3002+13A>G)
c.2975+13A>G (n.2975+13A>G)
dbSNP gnomAD v2 gnomAD v4
7g.150947315T=CA1752428325KCNH2n.3985+13A=
c.3152+13A= (n.3152+13A=)
c.2132+13A= (n.2132+13A=)
c.2852+13A= (n.2852+13A=)
c.3002+13A= (n.3002+13A=)
c.2975+13A= (n.2975+13A=)
7g.150947316G>ACA2685601761KCNH2n.3985+12C>T
c.3152+12C>T (n.3152+12C>T)
c.2132+12C>T (n.2132+12C>T)
c.2852+12C>T (n.2852+12C>T)
c.3002+12C>T (n.3002+12C>T)
c.2975+12C>T (n.2975+12C>T)
gnomAD v4
7g.150947316G=CA1752428328KCNH2n.3985+12C=
c.3152+12C= (n.3152+12C=)
c.2132+12C= (n.2132+12C=)
c.2852+12C= (n.2852+12C=)
c.3002+12C= (n.3002+12C=)
c.2975+12C= (n.2975+12C=)
7g.150947316G>TCA037216KCNH2n.3985+12C>A
c.3152+12C>A (n.3152+12C>A)
c.2132+12C>A (n.2132+12C>A)
c.2852+12C>A (n.2852+12C>A)
c.3002+12C>A (n.3002+12C>A)
c.2975+12C>A (n.2975+12C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947317C>ACA2685601763KCNH2n.3985+11G>T
c.3152+11G>T (n.3152+11G>T)
c.2132+11G>T (n.2132+11G>T)
c.2852+11G>T (n.2852+11G>T)
c.3002+11G>T (n.3002+11G>T)
c.2975+11G>T (n.2975+11G>T)
gnomAD v4
7g.150947317C=CA1752428333KCNH2n.3985+11G=
c.3152+11G= (n.3152+11G=)
c.2132+11G= (n.2132+11G=)
c.2852+11G= (n.2852+11G=)
c.3002+11G= (n.3002+11G=)
c.2975+11G= (n.2975+11G=)
7g.150947317C>GCA579075348KCNH2n.3985+11G>C
c.3152+11G>C (n.3152+11G>C)
c.2132+11G>C (n.2132+11G>C)
c.2852+11G>C (n.2852+11G>C)
c.3002+11G>C (n.3002+11G>C)
c.2975+11G>C (n.2975+11G>C)
dbSNP gnomAD v2 gnomAD v4
7g.150947317C>TCA579075349KCNH2n.3985+11G>A
c.3152+11G>A (n.3152+11G>A)
c.2132+11G>A (n.2132+11G>A)
c.2852+11G>A (n.2852+11G>A)
c.3002+11G>A (n.3002+11G>A)
c.2975+11G>A (n.2975+11G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947318A=CA1752428337KCNH2n.3985+10T=
c.3152+10T= (n.3152+10T=)
c.2132+10T= (n.2132+10T=)
c.2852+10T= (n.2852+10T=)
c.3002+10T= (n.3002+10T=)
c.2975+10T= (n.2975+10T=)
7g.150947318A>GCA835221106KCNH2n.3985+10T>C
c.3152+10T>C (n.3152+10T>C)
c.2132+10T>C (n.2132+10T>C)
c.2852+10T>C (n.2852+10T>C)
c.3002+10T>C (n.3002+10T>C)
c.2975+10T>C (n.2975+10T>C)
ClinVar dbSNP gnomAD v4
7g.150947319C=CA1752428339KCNH2n.3985+9G=
c.3152+9G= (n.3152+9G=)
c.2132+9G= (n.2132+9G=)
c.2852+9G= (n.2852+9G=)
c.3002+9G= (n.3002+9G=)
c.2975+9G= (n.2975+9G=)
7g.150947319C>TCA1108704580KCNH2n.3985+9G>A
c.3152+9G>A (n.3152+9G>A)
c.2132+9G>A (n.2132+9G>A)
c.2852+9G>A (n.2852+9G>A)
c.3002+9G>A (n.3002+9G>A)
c.2975+9G>A (n.2975+9G>A)
dbSNP gnomAD v3 gnomAD v4
7g.150947320T>CCA2685601765KCNH2n.3985+8A>G
c.3152+8A>G (n.3152+8A>G)
c.2132+8A>G (n.2132+8A>G)
c.2852+8A>G (n.2852+8A>G)
c.3002+8A>G (n.3002+8A>G)
c.2975+8A>G (n.2975+8A>G)
dbSNP gnomAD v4
7g.150947321C>ACA2685601766KCNH2n.3985+7G>T
c.3152+7G>T (n.3152+7G>T)
c.2132+7G>T (n.2132+7G>T)
c.2852+7G>T (n.2852+7G>T)
c.3002+7G>T (n.3002+7G>T)
c.2975+7G>T (n.2975+7G>T)
gnomAD v4
7g.150947321C>TCA2685601768KCNH2n.3985+7G>A
c.3152+7G>A (n.3152+7G>A)
c.2132+7G>A (n.2132+7G>A)
c.2852+7G>A (n.2852+7G>A)
c.3002+7G>A (n.3002+7G>A)
c.2975+7G>A (n.2975+7G>A)
gnomAD v4
7g.150947322C>ACA2685601770KCNH2n.3985+6G>T
c.3152+6G>T (n.3152+6G>T)
c.2132+6G>T (n.2132+6G>T)
c.2852+6G>T (n.2852+6G>T)
c.3002+6G>T (n.3002+6G>T)
c.2975+6G>T (n.2975+6G>T)
gnomAD v4
7g.150947322C=CA1752428342KCNH2n.3985+6G=
c.3152+6G= (n.3152+6G=)
c.2132+6G= (n.2132+6G=)
c.2852+6G= (n.2852+6G=)
c.3002+6G= (n.3002+6G=)
c.2975+6G= (n.2975+6G=)
7g.150947322C>TCA579075350KCNH2n.3985+6G>A
c.3152+6G>A (n.3152+6G>A)
c.2132+6G>A (n.2132+6G>A)
c.2852+6G>A (n.2852+6G>A)
c.3002+6G>A (n.3002+6G>A)
c.2975+6G>A (n.2975+6G>A)
dbSNP gnomAD v2 gnomAD v4
7g.150947323C>ACA2685601771KCNH2n.3985+5G>T
c.3152+5G>T (n.3152+5G>T)
c.2132+5G>T (n.2132+5G>T)
c.2852+5G>T (n.2852+5G>T)
c.3002+5G>T (n.3002+5G>T)
c.2975+5G>T (n.2975+5G>T)
gnomAD v4
7g.150947323C>GCA2685601772KCNH2n.3985+5G>C
c.3152+5G>C (n.3152+5G>C)
c.2132+5G>C (n.2132+5G>C)
c.2852+5G>C (n.2852+5G>C)
c.3002+5G>C (n.3002+5G>C)
c.2975+5G>C (n.2975+5G>C)
gnomAD v4
7g.150947324T>ACA2685601773KCNH2n.3985+4A>T
c.3152+4A>T (n.3152+4A>T)
c.2132+4A>T (n.2132+4A>T)
c.2852+4A>T (n.2852+4A>T)
c.3002+4A>T (n.3002+4A>T)
c.2975+4A>T (n.2975+4A>T)
gnomAD v4
7g.150947324T>CCA2685601774KCNH2n.3985+4A>G
c.3152+4A>G (n.3152+4A>G)
c.2132+4A>G (n.2132+4A>G)
c.2852+4A>G (n.2852+4A>G)
c.3002+4A>G (n.3002+4A>G)
c.2975+4A>G (n.2975+4A>G)
gnomAD v4
7g.150947324T>GCA2499218781KCNH2n.3985+4A>C
c.3152+4A>C (n.3152+4A>C)
c.2132+4A>C (n.2132+4A>C)
c.2852+4A>C (n.2852+4A>C)
c.3002+4A>C (n.3002+4A>C)
c.2975+4A>C (n.2975+4A>C)
ClinVar dbSNP
7g.150947325C>ACA2685601775KCNH2n.3985+3G>T
c.3152+3G>T (n.3152+3G>T)
c.2132+3G>T (n.2132+3G>T)
c.2852+3G>T (n.2852+3G>T)
c.3002+3G>T (n.3002+3G>T)
c.2975+3G>T (n.2975+3G>T)
gnomAD v4
7g.150947325C=CA1752428345KCNH2n.3985+3G=
c.3152+3G= (n.3152+3G=)
c.2132+3G= (n.2132+3G=)
c.2852+3G= (n.2852+3G=)
c.3002+3G= (n.3002+3G=)
c.2975+3G= (n.2975+3G=)
7g.150947325C>TCA835221112KCNH2n.3985+3G>A
c.3152+3G>A (n.3152+3G>A)
c.2132+3G>A (n.2132+3G>A)
c.2852+3G>A (n.2852+3G>A)
c.3002+3G>A (n.3002+3G>A)
c.2975+3G>A (n.2975+3G>A)
dbSNP gnomAD v4
7g.150947326A=CA1752428350KCNH2n.3985+2T=
c.3152+2T= (n.3152+2T=)
c.2132+2T= (n.2132+2T=)
c.2852+2T= (n.2852+2T=)
c.3002+2T= (n.3002+2T=)
c.2975+2T= (n.2975+2T=)
7g.150947326A>CCA369852458KCNH2n.3985+2T>G
c.3152+2T>G (n.3152+2T>G)
c.2132+2T>G (n.2132+2T>G)
c.2852+2T>G (n.2852+2T>G)
c.3002+2T>G (n.3002+2T>G)
c.2975+2T>G (n.2975+2T>G)
7g.150947326A>GCA16042589KCNH2n.3985+2T>C
c.3152+2T>C (n.3152+2T>C)
c.2132+2T>C (n.2132+2T>C)
c.2852+2T>C (n.2852+2T>C)
c.3002+2T>C (n.3002+2T>C)
c.2975+2T>C (n.2975+2T>C)
ClinVar dbSNP gnomAD v4
7g.150947326A>TCA369852459KCNH2n.3985+2T>A
c.3152+2T>A (n.3152+2T>A)
c.2132+2T>A (n.2132+2T>A)
c.2852+2T>A (n.2852+2T>A)
c.3002+2T>A (n.3002+2T>A)
c.2975+2T>A (n.2975+2T>A)
gnomAD v4
7g.150947327C>ACA16042568KCNH2n.3985+1G>T
c.3152+1G>T (n.3152+1G>T)
c.2132+1G>T (n.2132+1G>T)
c.2852+1G>T (n.2852+1G>T)
c.3002+1G>T (n.3002+1G>T)
c.2975+1G>T (n.2975+1G>T)
ClinVar dbSNP gnomAD v4
7g.150947327C=CA1752428360KCNH2n.3985+1G=
c.3152+1G= (n.3152+1G=)
c.2132+1G= (n.2132+1G=)
c.2852+1G= (n.2852+1G=)
c.3002+1G= (n.3002+1G=)
c.2975+1G= (n.2975+1G=)
7g.150947327C>GCA369852462KCNH2n.3985+1G>C
c.3152+1G>C (n.3152+1G>C)
c.2132+1G>C (n.2132+1G>C)
c.2852+1G>C (n.2852+1G>C)
c.3002+1G>C (n.3002+1G>C)
c.2975+1G>C (n.2975+1G>C)
7g.150947327C>TCA369852464KCNH2n.3985+1G>A
c.3152+1G>A (n.3152+1G>A)
c.2132+1G>A (n.2132+1G>A)
c.2852+1G>A (n.2852+1G>A)
c.3002+1G>A (n.3002+1G>A)
c.2975+1G>A (n.2975+1G>A)
gnomAD v4
7g.150947328C>ACA369852466KCNH2n.3985G>T
c.3152G>T (p.Arg1051Met)
c.2132G>T (p.Arg711Met)
c.2852G>T (p.Arg951Met)
c.3002G>T (p.Arg1001Met)
c.2975G>T (p.Arg992Met)
gnomAD v4
7g.150947328C>GCA369852469KCNH2n.3985G>C
c.3152G>C (p.Arg1051Thr)
c.2132G>C (p.Arg711Thr)
c.2852G>C (p.Arg951Thr)
c.3002G>C (p.Arg1001Thr)
c.2975G>C (p.Arg992Thr)
7g.150947328C>TCA369852468KCNH2n.3985G>A
c.3152G>A (p.Arg1051Lys)
c.2132G>A (p.Arg711Lys)
c.2852G>A (p.Arg951Lys)
c.3002G>A (p.Arg1001Lys)
c.2975G>A (p.Arg992Lys)
7g.150947329T>ACA369852471KCNH2n.3984A>T
c.3151A>T (p.Arg1051Trp)
c.2131A>T (p.Arg711Trp)
c.2851A>T (p.Arg951Trp)
c.3001A>T (p.Arg1001Trp)
c.2974A>T (p.Arg992Trp)
gnomAD v4
7g.150947329T>CCA369852472KCNH2n.3984A>G
c.3151A>G (p.Arg1051Gly)
c.2131A>G (p.Arg711Gly)
c.2851A>G (p.Arg951Gly)
c.3001A>G (p.Arg1001Gly)
c.2974A>G (p.Arg992Gly)
gnomAD v4
7g.150947329T>GCA458644785KCNH2n.3984A>C
c.3151A>C (p.Arg1051=)
c.2131A>C (p.Arg711=)
c.2851A>C (p.Arg951=)
c.3001A>C (p.Arg1001=)
c.2974A>C (p.Arg992=)
7g.150947330G>ACA458644786KCNH2n.3983C>T
c.3150C>T (p.Asn1050=)
c.2130C>T (p.Asn710=)
c.2850C>T (p.Asn950=)
c.3000C>T (p.Asn1000=)
c.2973C>T (p.Asn991=)
dbSNP gnomAD v2 gnomAD v4
7g.150947330G>CCA369852474KCNH2n.3983C>G
c.3150C>G (p.Asn1050Lys)
c.2130C>G (p.Asn710Lys)
c.2850C>G (p.Asn950Lys)
c.3000C>G (p.Asn1000Lys)
c.2973C>G (p.Asn991Lys)
7g.150947330G=CA1752428366KCNH2n.3983C=
c.3150C= (p.Asn1050=)
c.2130C= (p.Asn710=)
c.2850C= (p.Asn950=)
c.3000C= (p.Asn1000=)
c.2973C= (p.Asn991=)
7g.150947330G>TCA369852476KCNH2n.3983C>A
c.3150C>A (p.Asn1050Lys)
c.2130C>A (p.Asn710Lys)
c.2850C>A (p.Asn950Lys)
c.3000C>A (p.Asn1000Lys)
c.2973C>A (p.Asn991Lys)
gnomAD v4
7g.150947331T>ACA369852477KCNH2n.3982A>T
c.3149A>T (p.Asn1050Ile)
c.2129A>T (p.Asn710Ile)
c.2849A>T (p.Asn950Ile)
c.2999A>T (p.Asn1000Ile)
c.2972A>T (p.Asn991Ile)
7g.150947331T>CCA369852480KCNH2n.3982A>G
c.3149A>G (p.Asn1050Ser)
c.2129A>G (p.Asn710Ser)
c.2849A>G (p.Asn950Ser)
c.2999A>G (p.Asn1000Ser)
c.2972A>G (p.Asn991Ser)
gnomAD v4
7g.150947331T>GCA369852478KCNH2n.3982A>C
c.3149A>C (p.Asn1050Thr)
c.2129A>C (p.Asn710Thr)
c.2849A>C (p.Asn950Thr)
c.2999A>C (p.Asn1000Thr)
c.2972A>C (p.Asn991Thr)
7g.150947332T>ACA369852482KCNH2n.3981A>T
c.3148A>T (p.Asn1050Tyr)
c.2128A>T (p.Asn710Tyr)
c.2848A>T (p.Asn950Tyr)
c.2998A>T (p.Asn1000Tyr)
c.2971A>T (p.Asn991Tyr)
gnomAD v4
7g.150947332T>CCA369852483KCNH2n.3981A>G
c.3148A>G (p.Asn1050Asp)
c.2128A>G (p.Asn710Asp)
c.2848A>G (p.Asn950Asp)
c.2998A>G (p.Asn1000Asp)
c.2971A>G (p.Asn991Asp)
7g.150947332T>GCA369852485KCNH2n.3981A>C
c.3148A>C (p.Asn1050His)
c.2128A>C (p.Asn710His)
c.2848A>C (p.Asn950His)
c.2998A>C (p.Asn1000His)
c.2971A>C (p.Asn991His)
7g.150947333G>ACA169071756KCNH2n.3980C>T
c.3147C>T (p.Leu1049=)
c.2127C>T (p.Leu709=)
c.2847C>T (p.Leu949=)
c.2997C>T (p.Leu999=)
c.2970C>T (p.Leu990=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947333G>CCA458644787KCNH2n.3980C>G
c.3147C>G (p.Leu1049=)
c.2127C>G (p.Leu709=)
c.2847C>G (p.Leu949=)
c.2997C>G (p.Leu999=)
c.2970C>G (p.Leu990=)
7g.150947333G=CA1752428368KCNH2n.3980C=
c.3147C= (p.Leu1049=)
c.2127C= (p.Leu709=)
c.2847C= (p.Leu949=)
c.2997C= (p.Leu999=)
c.2970C= (p.Leu990=)
7g.150947333G>TCA458644788KCNH2n.3980C>A
c.3147C>A (p.Leu1049=)
c.2127C>A (p.Leu709=)
c.2847C>A (p.Leu949=)
c.2997C>A (p.Leu999=)
c.2970C>A (p.Leu990=)
gnomAD v4
7g.150947334A=CA1752428375KCNH2n.3979T=
c.3146T= (p.Leu1049=)
c.2126T= (p.Leu709=)
c.2846T= (p.Leu949=)
c.2996T= (p.Leu999=)
c.2969T= (p.Leu990=)
7g.150947334A>CCA369852487KCNH2n.3979T>G
c.3146T>G (p.Leu1049Arg)
c.2126T>G (p.Leu709Arg)
c.2846T>G (p.Leu949Arg)
c.2996T>G (p.Leu999Arg)
c.2969T>G (p.Leu990Arg)
7g.150947334A>GCA008049KCNH2n.3979T>C
c.3146T>C (p.Leu1049Pro)
c.2126T>C (p.Leu709Pro)
c.2846T>C (p.Leu949Pro)
c.2996T>C (p.Leu999Pro)
c.2969T>C (p.Leu990Pro)
ClinVar dbSNP gnomAD v4
7g.150947334A>TCA369852489KCNH2n.3979T>A
c.3146T>A (p.Leu1049His)
c.2126T>A (p.Leu709His)
c.2846T>A (p.Leu949His)
c.2996T>A (p.Leu999His)
c.2969T>A (p.Leu990His)
7g.150947335G>ACA369852494KCNH2n.3978C>T
c.3145C>T (p.Leu1049Phe)
c.2125C>T (p.Leu709Phe)
c.2845C>T (p.Leu949Phe)
c.2995C>T (p.Leu999Phe)
c.2968C>T (p.Leu990Phe)
gnomAD v4
7g.150947335G>CCA369852491KCNH2n.3978C>G
c.3145C>G (p.Leu1049Val)
c.2125C>G (p.Leu709Val)
c.2845C>G (p.Leu949Val)
c.2995C>G (p.Leu999Val)
c.2968C>G (p.Leu990Val)
7g.150947335G>TCA369852493KCNH2n.3978C>A
c.3145C>A (p.Leu1049Ile)
c.2125C>A (p.Leu709Ile)
c.2845C>A (p.Leu949Ile)
c.2995C>A (p.Leu999Ile)
c.2968C>A (p.Leu990Ile)
gnomAD v4
7g.150947336C>ACA369852496KCNH2n.3977G>T
c.3144G>T (p.Gln1048His)
c.2124G>T (p.Gln708His)
c.2844G>T (p.Gln948His)
c.2994G>T (p.Gln998His)
c.2967G>T (p.Gln989His)
gnomAD v4
7g.150947336C=CA1752428381KCNH2n.3977G=
c.3144G= (p.Gln1048=)
c.2124G= (p.Gln708=)
c.2844G= (p.Gln948=)
c.2994G= (p.Gln998=)
c.2967G= (p.Gln989=)
7g.150947336C>GCA369852498KCNH2n.3977G>C
c.3144G>C (p.Gln1048His)
c.2124G>C (p.Gln708His)
c.2844G>C (p.Gln948His)
c.2994G>C (p.Gln998His)
c.2967G>C (p.Gln989His)
7g.150947336C>TCA458644792KCNH2n.3977G>A
c.3144G>A (p.Gln1048=)
c.2124G>A (p.Gln708=)
c.2844G>A (p.Gln948=)
c.2994G>A (p.Gln998=)
c.2967G>A (p.Gln989=)
dbSNP gnomAD v2
7g.150947337T>ACA369852500KCNH2n.3976A>T
c.3143A>T (p.Gln1048Leu)
c.2123A>T (p.Gln708Leu)
c.2843A>T (p.Gln948Leu)
c.2993A>T (p.Gln998Leu)
c.2966A>T (p.Gln989Leu)
7g.150947337T>CCA369852501KCNH2n.3976A>G
c.3143A>G (p.Gln1048Arg)
c.2123A>G (p.Gln708Arg)
c.2843A>G (p.Gln948Arg)
c.2993A>G (p.Gln998Arg)
c.2966A>G (p.Gln989Arg)
gnomAD v4
7g.150947337T>GCA369852503KCNH2n.3976A>C
c.3143A>C (p.Gln1048Pro)
c.2123A>C (p.Gln708Pro)
c.2843A>C (p.Gln948Pro)
c.2993A>C (p.Gln998Pro)
c.2966A>C (p.Gln989Pro)
gnomAD v4
7g.150947338G>ACA369852505KCNH2n.3975C>T
c.3142C>T (p.Gln1048Ter)
c.2122C>T (p.Gln708Ter)
c.2842C>T (p.Gln948Ter)
c.2992C>T (p.Gln998Ter)
c.2965C>T (p.Gln989Ter)
gnomAD v4
7g.150947338G>CCA369852508KCNH2n.3975C>G
c.3142C>G (p.Gln1048Glu)
c.2122C>G (p.Gln708Glu)
c.2842C>G (p.Gln948Glu)
c.2992C>G (p.Gln998Glu)
c.2965C>G (p.Gln989Glu)
gnomAD v4
7g.150947338G>TCA369852506KCNH2n.3975C>A
c.3142C>A (p.Gln1048Lys)
c.2122C>A (p.Gln708Lys)
c.2842C>A (p.Gln948Lys)
c.2992C>A (p.Gln998Lys)
c.2965C>A (p.Gln989Lys)
gnomAD v4
7g.150947339G>ACA458644794KCNH2n.3974C>T
c.3141C>T (p.Arg1047=)
c.2121C>T (p.Arg707=)
c.2841C>T (p.Arg947=)
c.2991C>T (p.Arg997=)
c.2964C>T (p.Arg988=)
dbSNP
7g.150947339G>CCA458644795KCNH2n.3974C>G
c.3141C>G (p.Arg1047=)
c.2121C>G (p.Arg707=)
c.2841C>G (p.Arg947=)
c.2991C>G (p.Arg997=)
c.2964C>G (p.Arg988=)
7g.150947339G=CA1752428383KCNH2n.3974C=
c.3141C= (p.Arg1047=)
c.2121C= (p.Arg707=)
c.2841C= (p.Arg947=)
c.2991C= (p.Arg997=)
c.2964C= (p.Arg988=)
7g.150947339G>TCA458644796KCNH2n.3974C>A
c.3141C>A (p.Arg1047=)
c.2121C>A (p.Arg707=)
c.2841C>A (p.Arg947=)
c.2991C>A (p.Arg997=)
c.2964C>A (p.Arg988=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947340delCA2778425741KCNH2n.3973del
c.3140del (p.Arg1047ProfsTer10)
c.2120del (p.Arg707ProfsTer10)
c.2840del (p.Arg947ProfsTer10)
c.2990del (p.Arg997ProfsTer10)
c.2963del (p.Arg988ProfsTer10)
7g.150947340C>ACA008041KCNH2n.3973G>T
c.3140G>T (p.Arg1047Leu)
c.2120G>T (p.Arg707Leu)
c.2840G>T (p.Arg947Leu)
c.2990G>T (p.Arg997Leu)
c.2963G>T (p.Arg988Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947340C=CA1752428387KCNH2n.3973G=
c.3140G= (p.Arg1047=)
c.2120G= (p.Arg707=)
c.2840G= (p.Arg947=)
c.2990G= (p.Arg997=)
c.2963G= (p.Arg988=)
7g.150947340C>GCA369852510KCNH2n.3973G>C
c.3140G>C (p.Arg1047Pro)
c.2120G>C (p.Arg707Pro)
c.2840G>C (p.Arg947Pro)
c.2990G>C (p.Arg997Pro)
c.2963G>C (p.Arg988Pro)
7g.150947340C>TCA369852511KCNH2n.3973G>A
c.3140G>A (p.Arg1047His)
c.2120G>A (p.Arg707His)
c.2840G>A (p.Arg947His)
c.2990G>A (p.Arg997His)
c.2963G>A (p.Arg988His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947341G>ACA008033KCNH2n.3972C>T
c.3139C>T (p.Arg1047Cys)
c.2119C>T (p.Arg707Cys)
c.2839C>T (p.Arg947Cys)
c.2989C>T (p.Arg997Cys)
c.2962C>T (p.Arg988Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947341G>CCA369852513KCNH2n.3972C>G
c.3139C>G (p.Arg1047Gly)
c.2119C>G (p.Arg707Gly)
c.2839C>G (p.Arg947Gly)
c.2989C>G (p.Arg997Gly)
c.2962C>G (p.Arg988Gly)
7g.150947341G=CA1752428404KCNH2n.3972C=
c.3139C= (p.Arg1047=)
c.2119C= (p.Arg707=)
c.2839C= (p.Arg947=)
c.2989C= (p.Arg997=)
c.2962C= (p.Arg988=)
7g.150947341G>TCA369852514KCNH2n.3972C>A
c.3139C>A (p.Arg1047Ser)
c.2119C>A (p.Arg707Ser)
c.2839C>A (p.Arg947Ser)
c.2989C>A (p.Arg997Ser)
c.2962C>A (p.Arg988Ser)
gnomAD v4
7g.150947342C>ACA369852516KCNH2n.3971G>T
c.3138G>T (p.Gln1046His)
c.2118G>T (p.Gln706His)
c.2838G>T (p.Gln946His)
c.2988G>T (p.Gln996His)
c.2961G>T (p.Gln987His)
ClinVar dbSNP gnomAD v4
7g.150947342C=CA1752428407KCNH2n.3971G=
c.3138G= (p.Gln1046=)
c.2118G= (p.Gln706=)
c.2838G= (p.Gln946=)
c.2988G= (p.Gln996=)
c.2961G= (p.Gln987=)
7g.150947342C>GCA369852517KCNH2n.3971G>C
c.3138G>C (p.Gln1046His)
c.2118G>C (p.Gln706His)
c.2838G>C (p.Gln946His)
c.2988G>C (p.Gln996His)
c.2961G>C (p.Gln987His)
7g.150947342C>TCA458644797KCNH2n.3971G>A
c.3138G>A (p.Gln1046=)
c.2118G>A (p.Gln706=)
c.2838G>A (p.Gln946=)
c.2988G>A (p.Gln996=)
c.2961G>A (p.Gln987=)
dbSNP gnomAD v2 gnomAD v4
7g.150947343T>ACA369852519KCNH2n.3970A>T
c.3137A>T (p.Gln1046Leu)
c.2117A>T (p.Gln706Leu)
c.2837A>T (p.Gln946Leu)
c.2987A>T (p.Gln996Leu)
c.2960A>T (p.Gln987Leu)
gnomAD v4
7g.150947343T>CCA369852521KCNH2n.3970A>G
c.3137A>G (p.Gln1046Arg)
c.2117A>G (p.Gln706Arg)
c.2837A>G (p.Gln946Arg)
c.2987A>G (p.Gln996Arg)
c.2960A>G (p.Gln987Arg)
ClinVar dbSNP
7g.150947343T>GCA369852522KCNH2n.3970A>C
c.3137A>C (p.Gln1046Pro)
c.2117A>C (p.Gln706Pro)
c.2837A>C (p.Gln946Pro)
c.2987A>C (p.Gln996Pro)
c.2960A>C (p.Gln987Pro)
7g.150947343T=CA1752428420KCNH2n.3970A=
c.3137A= (p.Gln1046=)
c.2117A= (p.Gln706=)
c.2837A= (p.Gln946=)
c.2987A= (p.Gln996=)
c.2960A= (p.Gln987=)
7g.150947343_150947344delinsTGCA1752428417KCNH2n.3969_3970delinsCA
c.3136_3137delinsCA (p.Gln1046=)
c.2116_2117delinsCA (p.Gln706=)
c.2836_2837delinsCA (p.Gln946=)
c.2986_2987delinsCA (p.Gln996=)
c.2959_2960delinsCA (p.Gln987=)
7g.150947343_150947347delinsTGGAGCA1752428418KCNH2n.3966_3970delinsCTCCA
c.3133_3137delinsCTCCA (p.Leu1045=)
c.2113_2117delinsCTCCA (p.Leu705=)
c.2833_2837delinsCTCCA (p.Leu945=)
c.2983_2987delinsCTCCA (p.Leu995=)
c.2956_2960delinsCTCCA (p.Leu986=)
7g.150947344G>ACA369852526KCNH2n.3969C>T
c.3136C>T (p.Gln1046Ter)
c.2116C>T (p.Gln706Ter)
c.2836C>T (p.Gln946Ter)
c.2986C>T (p.Gln996Ter)
c.2959C>T (p.Gln987Ter)
ClinVar gnomAD v4
7g.150947344G>CCA369852523KCNH2n.3969C>G
c.3136C>G (p.Gln1046Glu)
c.2116C>G (p.Gln706Glu)
c.2836C>G (p.Gln946Glu)
c.2986C>G (p.Gln996Glu)
c.2959C>G (p.Gln987Glu)
gnomAD v4
7g.150947344G>TCA369852524KCNH2n.3969C>A
c.3136C>A (p.Gln1046Lys)
c.2116C>A (p.Gln706Lys)
c.2836C>A (p.Gln946Lys)
c.2986C>A (p.Gln996Lys)
c.2959C>A (p.Gln987Lys)
gnomAD v4
7g.150947345delCA008026KCNH2n.3969del
c.3136del (p.Gln1046SerfsTer11)
c.2116del (p.Gln706SerfsTer11)
c.2836del (p.Gln946SerfsTer11)
c.2986del (p.Gln996SerfsTer11)
c.2959del (p.Gln987SerfsTer11)
ClinVar dbSNP
7g.150947346_150947349delCA915945566KCNH2n.3966_3969del
c.3133_3136del (p.Leu1045SerfsTer11)
c.2113_2116del (p.Leu705SerfsTer11)
c.2833_2836del (p.Leu945SerfsTer11)
c.2983_2986del (p.Leu995SerfsTer11)
c.2956_2959del (p.Leu986SerfsTer11)
ClinVar dbSNP
7g.150947345G>ACA458644801KCNH2n.3968C>T
c.3135C>T (p.Leu1045=)
c.2115C>T (p.Leu705=)
c.2835C>T (p.Leu945=)
c.2985C>T (p.Leu995=)
c.2958C>T (p.Leu986=)
7g.150947345G>CCA458644802KCNH2n.3968C>G
c.3135C>G (p.Leu1045=)
c.2115C>G (p.Leu705=)
c.2835C>G (p.Leu945=)
c.2985C>G (p.Leu995=)
c.2958C>G (p.Leu986=)
gnomAD v4
7g.150947345G>TCA458644803KCNH2n.3968C>A
c.3135C>A (p.Leu1045=)
c.2115C>A (p.Leu705=)
c.2835C>A (p.Leu945=)
c.2985C>A (p.Leu995=)
c.2958C>A (p.Leu986=)
gnomAD v4
7g.150947346A=CA1752428433KCNH2n.3967T=
c.3134T= (p.Leu1045=)
c.2114T= (p.Leu705=)
c.2834T= (p.Leu945=)
c.2984T= (p.Leu995=)
c.2957T= (p.Leu986=)
7g.150947346A>CCA369852529KCNH2n.3967T>G
c.3134T>G (p.Leu1045Arg)
c.2114T>G (p.Leu705Arg)
c.2834T>G (p.Leu945Arg)
c.2984T>G (p.Leu995Arg)
c.2957T>G (p.Leu986Arg)
ClinVar dbSNP
7g.150947346A>GCA369852528KCNH2n.3967T>C
c.3134T>C (p.Leu1045Pro)
c.2114T>C (p.Leu705Pro)
c.2834T>C (p.Leu945Pro)
c.2984T>C (p.Leu995Pro)
c.2957T>C (p.Leu986Pro)
gnomAD v4
7g.150947346A>TCA369852531KCNH2n.3967T>A
c.3134T>A (p.Leu1045His)
c.2114T>A (p.Leu705His)
c.2834T>A (p.Leu945His)
c.2984T>A (p.Leu995His)
c.2957T>A (p.Leu986His)
gnomAD v4
7g.150947347G>ACA008015KCNH2n.3966C>T
c.3133C>T (p.Leu1045Phe)
c.2113C>T (p.Leu705Phe)
c.2833C>T (p.Leu945Phe)
c.2983C>T (p.Leu995Phe)
c.2956C>T (p.Leu986Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947347G>CCA369852535KCNH2n.3966C>G
c.3133C>G (p.Leu1045Val)
c.2113C>G (p.Leu705Val)
c.2833C>G (p.Leu945Val)
c.2983C>G (p.Leu995Val)
c.2956C>G (p.Leu986Val)
7g.150947347G=CA1752428439KCNH2n.3966C=
c.3133C= (p.Leu1045=)
c.2113C= (p.Leu705=)
c.2833C= (p.Leu945=)
c.2983C= (p.Leu995=)
c.2956C= (p.Leu986=)
7g.150947347G>TCA369852534KCNH2n.3966C>A
c.3133C>A (p.Leu1045Ile)
c.2113C>A (p.Leu705Ile)
c.2833C>A (p.Leu945Ile)
c.2983C>A (p.Leu995Ile)
c.2956C>A (p.Leu986Ile)
ClinVar dbSNP gnomAD v4
7g.150947349delCA2685601787KCNH2n.3966del
c.3133del (p.Leu1045SerfsTer12)
c.2113del (p.Leu705SerfsTer12)
c.2833del (p.Leu945SerfsTer12)
c.2983del (p.Leu995SerfsTer12)
c.2956del (p.Leu986SerfsTer12)
gnomAD v4
7g.150947348G>ACA169071780KCNH2n.3965C>T
c.3132C>T (p.Ala1044=)
c.2112C>T (p.Ala704=)
c.2832C>T (p.Ala944=)
c.2982C>T (p.Ala994=)
c.2955C>T (p.Ala985=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947348G>CCA458644805KCNH2n.3965C>G
c.3132C>G (p.Ala1044=)
c.2112C>G (p.Ala704=)
c.2832C>G (p.Ala944=)
c.2982C>G (p.Ala994=)
c.2955C>G (p.Ala985=)
7g.150947348G=CA1752428445KCNH2n.3965C=
c.3132C= (p.Ala1044=)
c.2112C= (p.Ala704=)
c.2832C= (p.Ala944=)
c.2982C= (p.Ala994=)
c.2955C= (p.Ala985=)
7g.150947348G>TCA458644806KCNH2n.3965C>A
c.3132C>A (p.Ala1044=)
c.2112C>A (p.Ala704=)
c.2832C>A (p.Ala944=)
c.2982C>A (p.Ala994=)
c.2955C>A (p.Ala985=)
gnomAD v4
7g.150947349G>ACA369852538KCNH2n.3964C>T
c.3131C>T (p.Ala1044Val)
c.2111C>T (p.Ala704Val)
c.2831C>T (p.Ala944Val)
c.2981C>T (p.Ala994Val)
c.2954C>T (p.Ala985Val)
ClinVar gnomAD v4 COSMIC COSMIC
7g.150947349G>CCA369852540KCNH2n.3964C>G
c.3131C>G (p.Ala1044Gly)
c.2111C>G (p.Ala704Gly)
c.2831C>G (p.Ala944Gly)
c.2981C>G (p.Ala994Gly)
c.2954C>G (p.Ala985Gly)
7g.150947349G>TCA369852541KCNH2n.3964C>A
c.3131C>A (p.Ala1044Asp)
c.2111C>A (p.Ala704Asp)
c.2831C>A (p.Ala944Asp)
c.2981C>A (p.Ala994Asp)
c.2954C>A (p.Ala985Asp)
gnomAD v4
7g.150947350C>ACA369852543KCNH2n.3963G>T
c.3130G>T (p.Ala1044Ser)
c.2110G>T (p.Ala704Ser)
c.2830G>T (p.Ala944Ser)
c.2980G>T (p.Ala994Ser)
c.2953G>T (p.Ala985Ser)
7g.150947350C>GCA369852544KCNH2n.3963G>C
c.3130G>C (p.Ala1044Pro)
c.2110G>C (p.Ala704Pro)
c.2830G>C (p.Ala944Pro)
c.2980G>C (p.Ala994Pro)
c.2953G>C (p.Ala985Pro)
7g.150947350C>TCA369852546KCNH2n.3963G>A
c.3130G>A (p.Ala1044Thr)
c.2110G>A (p.Ala704Thr)
c.2830G>A (p.Ala944Thr)
c.2980G>A (p.Ala994Thr)
c.2953G>A (p.Ala985Thr)
gnomAD v4
7g.150947350_150947368delinsCATCCAGCCTGCTCTCCACCA1752428447KCNH2n.3945_3963delinsGTGGAGAGCAGGCTGGATG
c.3112_3130delinsGTGGAGAGCAGGCTGGATG (p.Val1038=)
c.2092_2110delinsGTGGAGAGCAGGCTGGATG (p.Val698=)
c.2812_2830delinsGTGGAGAGCAGGCTGGATG (p.Val938=)
c.2962_2980delinsGTGGAGAGCAGGCTGGATG (p.Val988=)
c.2935_2953delinsGTGGAGAGCAGGCTGGATG (p.Val979=)
7g.150947351A>CCA369852548KCNH2n.3962T>G
c.3129T>G (p.Asp1043Glu)
c.2109T>G (p.Asp703Glu)
c.2829T>G (p.Asp943Glu)
c.2979T>G (p.Asp993Glu)
c.2952T>G (p.Asp984Glu)
7g.150947351A>GCA458644807KCNH2n.3962T>C
c.3129T>C (p.Asp1043=)
c.2109T>C (p.Asp703=)
c.2829T>C (p.Asp943=)
c.2979T>C (p.Asp993=)
c.2952T>C (p.Asp984=)
ClinVar dbSNP gnomAD v4
7g.150947351A>TCA369852550KCNH2n.3962T>A
c.3129T>A (p.Asp1043Glu)
c.2109T>A (p.Asp703Glu)
c.2829T>A (p.Asp943Glu)
c.2979T>A (p.Asp993Glu)
c.2952T>A (p.Asp984Glu)
7g.150947351_150947368delinsTGCA007983KCNH2n.3945_3962delinsCA
c.3112_3129delinsCA (p.Val1038GlnfsTer14)
c.2092_2109delinsCA (p.Val698GlnfsTer14)
c.2812_2829delinsCA (p.Val938GlnfsTer14)
c.2962_2979delinsCA (p.Val988GlnfsTer14)
c.2935_2952delinsCA (p.Val979GlnfsTer14)
ClinVar dbSNP
7g.150947352T>ACA169071795KCNH2n.3961A>T
c.3128A>T (p.Asp1043Val)
c.2108A>T (p.Asp703Val)
c.2828A>T (p.Asp943Val)
c.2978A>T (p.Asp993Val)
c.2951A>T (p.Asp984Val)
dbSNP gnomAD v4
7g.150947352T>CCA369852553KCNH2n.3961A>G
c.3128A>G (p.Asp1043Gly)
c.2108A>G (p.Asp703Gly)
c.2828A>G (p.Asp943Gly)
c.2978A>G (p.Asp993Gly)
c.2951A>G (p.Asp984Gly)
dbSNP gnomAD v2 gnomAD v4
7g.150947352T>GCA369852555KCNH2n.3961A>C
c.3128A>C (p.Asp1043Ala)
c.2108A>C (p.Asp703Ala)
c.2828A>C (p.Asp943Ala)
c.2978A>C (p.Asp993Ala)
c.2951A>C (p.Asp984Ala)
gnomAD v4
7g.150947352T=CA1752428456KCNH2n.3961A=
c.3128A= (p.Asp1043=)
c.2108A= (p.Asp703=)
c.2828A= (p.Asp943=)
c.2978A= (p.Asp993=)
c.2951A= (p.Asp984=)
7g.150947352_150947373delinsTCCAGCCTGCTCTCCACGTCGCCA1752428458KCNH2n.3940_3961delinsGCGACGTGGAGAGCAGGCTGGA
c.3107_3128delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly1036=)
c.2087_2108delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly696=)
c.2807_2828delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly936=)
c.2957_2978delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly986=)
c.2930_2951delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly977=)
7g.150947353C>ACA369852560KCNH2n.3960G>T
c.3127G>T (p.Asp1043Tyr)
c.2107G>T (p.Asp703Tyr)
c.2827G>T (p.Asp943Tyr)
c.2977G>T (p.Asp993Tyr)
c.2950G>T (p.Asp984Tyr)
gnomAD v4
7g.150947353C>GCA369852556KCNH2n.3960G>C
c.3127G>C (p.Asp1043His)
c.2107G>C (p.Asp703His)
c.2827G>C (p.Asp943His)
c.2977G>C (p.Asp993His)
c.2950G>C (p.Asp984His)
7g.150947353C>TCA369852558KCNH2n.3960G>A
c.3127G>A (p.Asp1043Asn)
c.2107G>A (p.Asp703Asn)
c.2827G>A (p.Asp943Asn)
c.2977G>A (p.Asp993Asn)
c.2950G>A (p.Asp984Asn)
gnomAD v4 COSMIC COSMIC
7g.150947355_150947375delCA16612102KCNH2n.3940_3960del
c.3107_3127del (p.Gly1036_Leu1042del)
c.2087_2107del (p.Gly696_Leu702del)
c.2807_2827del (p.Gly936_Leu942del)
c.2957_2977del (p.Gly986_Leu992del)
c.2930_2950del (p.Gly977_Leu983del)
ClinVar dbSNP
7g.150947354C>ACA458644808KCNH2n.3959G>T
c.3126G>T (p.Leu1042=)
c.2106G>T (p.Leu702=)
c.2826G>T (p.Leu942=)
c.2976G>T (p.Leu992=)
c.2949G>T (p.Leu983=)
gnomAD v4
7g.150947354C>GCA458644809KCNH2n.3959G>C
c.3126G>C (p.Leu1042=)
c.2106G>C (p.Leu702=)
c.2826G>C (p.Leu942=)
c.2976G>C (p.Leu992=)
c.2949G>C (p.Leu983=)
7g.150947354C>TCA458644811KCNH2n.3959G>A
c.3126G>A (p.Leu1042=)
c.2106G>A (p.Leu702=)
c.2826G>A (p.Leu942=)
c.2976G>A (p.Leu992=)
c.2949G>A (p.Leu983=)
ClinVar gnomAD v4
7g.150947355A=CA1752428469KCNH2n.3958T=
c.3125T= (p.Leu1042=)
c.2105T= (p.Leu702=)
c.2825T= (p.Leu942=)
c.2975T= (p.Leu992=)
c.2948T= (p.Leu983=)
7g.150947355A>CCA369852561KCNH2n.3958T>G
c.3125T>G (p.Leu1042Arg)
c.2105T>G (p.Leu702Arg)
c.2825T>G (p.Leu942Arg)
c.2975T>G (p.Leu992Arg)
c.2948T>G (p.Leu983Arg)
7g.150947355A>GCA10587639KCNH2n.3958T>C
c.3125T>C (p.Leu1042Pro)
c.2105T>C (p.Leu702Pro)
c.2825T>C (p.Leu942Pro)
c.2975T>C (p.Leu992Pro)
c.2948T>C (p.Leu983Pro)
ClinVar dbSNP
7g.150947355A>TCA369852563KCNH2n.3958T>A
c.3125T>A (p.Leu1042Gln)
c.2105T>A (p.Leu702Gln)
c.2825T>A (p.Leu942Gln)
c.2975T>A (p.Leu992Gln)
c.2948T>A (p.Leu983Gln)
7g.150947355_150947377delCA2695208777KCNH2n.3936_3958del
c.3103_3125del (p.Arg1035GlyfsTer?)
c.2083_2105del (p.Arg695GlyfsTer?)
c.2803_2825del (p.Arg935GlyfsTer?)
c.2953_2975del (p.Arg985GlyfsTer?)
c.2926_2948del (p.Arg976GlyfsTer?)
7g.150947356G>ACA458644812KCNH2n.3957C>T
c.3124C>T (p.Leu1042=)
c.2104C>T (p.Leu702=)
c.2824C>T (p.Leu942=)
c.2974C>T (p.Leu992=)
c.2947C>T (p.Leu983=)
dbSNP gnomAD v2 gnomAD v4
7g.150947356G>CCA369852565KCNH2n.3957C>G
c.3124C>G (p.Leu1042Val)
c.2104C>G (p.Leu702Val)
c.2824C>G (p.Leu942Val)
c.2974C>G (p.Leu992Val)
c.2947C>G (p.Leu983Val)
ClinVar dbSNP
7g.150947356G=CA1752428475KCNH2n.3957C=
c.3124C= (p.Leu1042=)
c.2104C= (p.Leu702=)
c.2824C= (p.Leu942=)
c.2974C= (p.Leu992=)
c.2947C= (p.Leu983=)
7g.150947356G>TCA369852567KCNH2n.3957C>A
c.3124C>A (p.Leu1042Met)
c.2104C>A (p.Leu702Met)
c.2824C>A (p.Leu942Met)
c.2974C>A (p.Leu992Met)
c.2947C>A (p.Leu983Met)
gnomAD v4
7g.150947357_150947402delCA2695208778KCNH2n.3912_3957del
c.3079_3124del (p.Leu1027TrpfsTer15)
c.2059_2104del (p.Leu687TrpfsTer15)
c.2779_2824del (p.Leu927TrpfsTer15)
c.2929_2974del (p.Leu977TrpfsTer15)
c.2902_2947del (p.Leu968TrpfsTer15)
7g.150947357C>ACA369852569KCNH2n.3956G>T
c.3123G>T (p.Arg1041Ser)
c.2103G>T (p.Arg701Ser)
c.2823G>T (p.Arg941Ser)
c.2973G>T (p.Arg991Ser)
c.2946G>T (p.Arg982Ser)
gnomAD v4
7g.150947357C=CA1752428480KCNH2n.3956G=
c.3123G= (p.Arg1041=)
c.2103G= (p.Arg701=)
c.2823G= (p.Arg941=)
c.2973G= (p.Arg991=)
c.2946G= (p.Arg982=)
7g.150947357C>GCA369852570KCNH2n.3956G>C
c.3123G>C (p.Arg1041Ser)
c.2103G>C (p.Arg701Ser)
c.2823G>C (p.Arg941Ser)
c.2973G>C (p.Arg991Ser)
c.2946G>C (p.Arg982Ser)
dbSNP
7g.150947357C>TCA458644814KCNH2n.3956G>A
c.3123G>A (p.Arg1041=)
c.2103G>A (p.Arg701=)
c.2823G>A (p.Arg941=)
c.2973G>A (p.Arg991=)
c.2946G>A (p.Arg982=)
gnomAD v4
7g.150947358C>ACA369852571KCNH2n.3955G>T
c.3122G>T (p.Arg1041Met)
c.2102G>T (p.Arg701Met)
c.2822G>T (p.Arg941Met)
c.2972G>T (p.Arg991Met)
c.2945G>T (p.Arg982Met)
7g.150947358C>GCA369852573KCNH2n.3955G>C
c.3122G>C (p.Arg1041Thr)
c.2102G>C (p.Arg701Thr)
c.2822G>C (p.Arg941Thr)
c.2972G>C (p.Arg991Thr)
c.2945G>C (p.Arg982Thr)
gnomAD v4
7g.150947358C>TCA369852575KCNH2n.3955G>A
c.3122G>A (p.Arg1041Lys)
c.2102G>A (p.Arg701Lys)
c.2822G>A (p.Arg941Lys)
c.2972G>A (p.Arg991Lys)
c.2945G>A (p.Arg982Lys)
ClinVar dbSNP
7g.150947358_150947377delinsTGGACA2695208779KCNH2n.3936_3955delinsTCCA
c.3103_3122delinsTCCA (p.Arg1035SerfsTer17)
c.2083_2102delinsTCCA (p.Arg695SerfsTer17)
c.2803_2822delinsTCCA (p.Arg935SerfsTer17)
c.2953_2972delinsTCCA (p.Arg985SerfsTer17)
c.2926_2945delinsTCCA (p.Arg976SerfsTer17)
7g.150947359T>ACA369852577KCNH2n.3954A>T
c.3121A>T (p.Arg1041Trp)
c.2101A>T (p.Arg701Trp)
c.2821A>T (p.Arg941Trp)
c.2971A>T (p.Arg991Trp)
c.2944A>T (p.Arg982Trp)
7g.150947359T>CCA369852578KCNH2n.3954A>G
c.3121A>G (p.Arg1041Gly)
c.2101A>G (p.Arg701Gly)
c.2821A>G (p.Arg941Gly)
c.2971A>G (p.Arg991Gly)
c.2944A>G (p.Arg982Gly)
7g.150947359T>GCA458644815KCNH2n.3954A>C
c.3121A>C (p.Arg1041=)
c.2101A>C (p.Arg701=)
c.2821A>C (p.Arg941=)
c.2971A>C (p.Arg991=)
c.2944A>C (p.Arg982=)
gnomAD v4
7g.150947360G>ACA037147KCNH2n.3953C>T
c.3120C>T (p.Ser1040=)
c.2100C>T (p.Ser700=)
c.2820C>T (p.Ser940=)
c.2970C>T (p.Ser990=)
c.2943C>T (p.Ser981=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947360G>CCA369852581KCNH2n.3953C>G
c.3120C>G (p.Ser1040Arg)
c.2100C>G (p.Ser700Arg)
c.2820C>G (p.Ser940Arg)
c.2970C>G (p.Ser990Arg)
c.2943C>G (p.Ser981Arg)
7g.150947360G=CA1752428484KCNH2n.3953C=
c.3120C= (p.Ser1040=)
c.2100C= (p.Ser700=)
c.2820C= (p.Ser940=)
c.2970C= (p.Ser990=)
c.2943C= (p.Ser981=)
7g.150947360G>TCA369852579KCNH2n.3953C>A
c.3120C>A (p.Ser1040Arg)
c.2100C>A (p.Ser700Arg)
c.2820C>A (p.Ser940Arg)
c.2970C>A (p.Ser990Arg)
c.2943C>A (p.Ser981Arg)
gnomAD v4
7g.150947360_150947377delinsCCGCCGACCCCA2580614279KCNH2n.3936_3953delinsGGGTCGGCGG
c.3103_3120delinsGGGTCGGCGG (p.Arg1035GlyfsTer?)
c.2083_2100delinsGGGTCGGCGG (p.Arg695GlyfsTer?)
c.2803_2820delinsGGGTCGGCGG (p.Arg935GlyfsTer?)
c.2953_2970delinsGGGTCGGCGG (p.Arg985GlyfsTer?)
c.2926_2943delinsGGGTCGGCGG (p.Arg976GlyfsTer?)
ClinVar
7g.150947361C>ACA369852582KCNH2n.3952G>T
c.3119G>T (p.Ser1040Ile)
c.2099G>T (p.Ser700Ile)
c.2819G>T (p.Ser940Ile)
c.2969G>T (p.Ser990Ile)
c.2942G>T (p.Ser981Ile)
gnomAD v4
7g.150947361C=CA1752428488KCNH2n.3952G=
c.3119G= (p.Ser1040=)
c.2099G= (p.Ser700=)
c.2819G= (p.Ser940=)
c.2969G= (p.Ser990=)
c.2942G= (p.Ser981=)
7g.150947361C>GCA369852583KCNH2n.3952G>C
c.3119G>C (p.Ser1040Thr)
c.2099G>C (p.Ser700Thr)
c.2819G>C (p.Ser940Thr)
c.2969G>C (p.Ser990Thr)
c.2942G>C (p.Ser981Thr)
7g.150947361C>TCA008007KCNH2n.3952G>A
c.3119G>A (p.Ser1040Asn)
c.2099G>A (p.Ser700Asn)
c.2819G>A (p.Ser940Asn)
c.2969G>A (p.Ser990Asn)
c.2942G>A (p.Ser981Asn)
ClinVar dbSNP
7g.150947362T>ACA369852585KCNH2n.3951A>T
c.3118A>T (p.Ser1040Cys)
c.2098A>T (p.Ser700Cys)
c.2818A>T (p.Ser940Cys)
c.2968A>T (p.Ser990Cys)
c.2941A>T (p.Ser981Cys)
7g.150947362T>CCA008000KCNH2n.3951A>G
c.3118A>G (p.Ser1040Gly)
c.2098A>G (p.Ser700Gly)
c.2818A>G (p.Ser940Gly)
c.2968A>G (p.Ser990Gly)
c.2941A>G (p.Ser981Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947362T>GCA369852586KCNH2n.3951A>C
c.3118A>C (p.Ser1040Arg)
c.2098A>C (p.Ser700Arg)
c.2818A>C (p.Ser940Arg)
c.2968A>C (p.Ser990Arg)
c.2941A>C (p.Ser981Arg)
7g.150947362T=CA1752428493KCNH2n.3951A=
c.3118A= (p.Ser1040=)
c.2098A= (p.Ser700=)
c.2818A= (p.Ser940=)
c.2968A= (p.Ser990=)
c.2941A= (p.Ser981=)
7g.150947363C>ACA369852588KCNH2n.3950G>T
c.3117G>T (p.Glu1039Asp)
c.2097G>T (p.Glu699Asp)
c.2817G>T (p.Glu939Asp)
c.2967G>T (p.Glu989Asp)
c.2940G>T (p.Glu980Asp)
gnomAD v4
7g.150947363C>GCA369852590KCNH2n.3950G>C
c.3117G>C (p.Glu1039Asp)
c.2097G>C (p.Glu699Asp)
c.2817G>C (p.Glu939Asp)
c.2967G>C (p.Glu989Asp)
c.2940G>C (p.Glu980Asp)
7g.150947363C>TCA458644819KCNH2n.3950G>A
c.3117G>A (p.Glu1039=)
c.2097G>A (p.Glu699=)
c.2817G>A (p.Glu939=)
c.2967G>A (p.Glu989=)
c.2940G>A (p.Glu980=)
gnomAD v4
7g.150947364T>ACA369852592KCNH2n.3949A>T
c.3116A>T (p.Glu1039Val)
c.2096A>T (p.Glu699Val)
c.2816A>T (p.Glu939Val)
c.2966A>T (p.Glu989Val)
c.2939A>T (p.Glu980Val)
7g.150947364T>CCA369852593KCNH2n.3949A>G
c.3116A>G (p.Glu1039Gly)
c.2096A>G (p.Glu699Gly)
c.2816A>G (p.Glu939Gly)
c.2966A>G (p.Glu989Gly)
c.2939A>G (p.Glu980Gly)
gnomAD v4
7g.150947364T>GCA369852594KCNH2n.3949A>C
c.3116A>C (p.Glu1039Ala)
c.2096A>C (p.Glu699Ala)
c.2816A>C (p.Glu939Ala)
c.2966A>C (p.Glu989Ala)
c.2939A>C (p.Glu980Ala)
7g.150947365C>ACA369852599KCNH2n.3948G>T
c.3115G>T (p.Glu1039Ter)
c.2095G>T (p.Glu699Ter)
c.2815G>T (p.Glu939Ter)
c.2965G>T (p.Glu989Ter)
c.2938G>T (p.Glu980Ter)
gnomAD v4
7g.150947365C=CA1752428497KCNH2n.3948G=
c.3115G= (p.Glu1039=)
c.2095G= (p.Glu699=)
c.2815G= (p.Glu939=)
c.2965G= (p.Glu989=)
c.2938G= (p.Glu980=)
7g.150947365C>GCA369852595KCNH2n.3948G>C
c.3115G>C (p.Glu1039Gln)
c.2095G>C (p.Glu699Gln)
c.2815G>C (p.Glu939Gln)
c.2965G>C (p.Glu989Gln)
c.2938G>C (p.Glu980Gln)
gnomAD v4
7g.150947365C>TCA369852597KCNH2n.3948G>A
c.3115G>A (p.Glu1039Lys)
c.2095G>A (p.Glu699Lys)
c.2815G>A (p.Glu939Lys)
c.2965G>A (p.Glu989Lys)
c.2938G>A (p.Glu980Lys)
dbSNP gnomAD v2 gnomAD v4
7g.150947366C>ACA458644820KCNH2n.3947G>T
c.3114G>T (p.Val1038=)
c.2094G>T (p.Val698=)
c.2814G>T (p.Val938=)
c.2964G>T (p.Val988=)
c.2937G>T (p.Val979=)
gnomAD v4
7g.150947366C>GCA458644821KCNH2n.3947G>C
c.3114G>C (p.Val1038=)
c.2094G>C (p.Val698=)
c.2814G>C (p.Val938=)
c.2964G>C (p.Val988=)
c.2937G>C (p.Val979=)
7g.150947366C>TCA458644822KCNH2n.3947G>A
c.3114G>A (p.Val1038=)
c.2094G>A (p.Val698=)
c.2814G>A (p.Val938=)
c.2964G>A (p.Val988=)
c.2937G>A (p.Val979=)
ClinVar
7g.150947367A=CA1752428506KCNH2n.3946T=
c.3113T= (p.Val1038=)
c.2093T= (p.Val698=)
c.2813T= (p.Val938=)
c.2963T= (p.Val988=)
c.2936T= (p.Val979=)
7g.150947367A>CCA369852600KCNH2n.3946T>G
c.3113T>G (p.Val1038Gly)
c.2093T>G (p.Val698Gly)
c.2813T>G (p.Val938Gly)
c.2963T>G (p.Val988Gly)
c.2936T>G (p.Val979Gly)
7g.150947367A>GCA369852601KCNH2n.3946T>C
c.3113T>C (p.Val1038Ala)
c.2093T>C (p.Val698Ala)
c.2813T>C (p.Val938Ala)
c.2963T>C (p.Val988Ala)
c.2936T>C (p.Val979Ala)
gnomAD v4
7g.150947367A>TCA369852603KCNH2n.3946T>A
c.3113T>A (p.Val1038Glu)
c.2093T>A (p.Val698Glu)
c.2813T>A (p.Val938Glu)
c.2963T>A (p.Val988Glu)
c.2936T>A (p.Val979Glu)
gnomAD v4
7g.150947367delinsCCGGGGCCGCCGACCCA2695208781KCNH2n.3946delinsGGTCGGCGGCCCCGG
c.3113delinsGGTCGGCGGCCCCGG (p.Val1038GlyfsTer24)
c.2093delinsGGTCGGCGGCCCCGG (p.Val698GlyfsTer24)
c.2813delinsGGTCGGCGGCCCCGG (p.Val938GlyfsTer24)
c.2963delinsGGTCGGCGGCCCCGG (p.Val988GlyfsTer24)
c.2936delinsGGTCGGCGGCCCCGG (p.Val979GlyfsTer24)
7g.150947367_150947381delinsACGTCGCCCCGGGGCCA1752428508KCNH2n.3932_3946delinsGCCCCGGGGCGACGT
c.3099_3113delinsGCCCCGGGGCGACGT (p.Arg1033=)
c.2079_2093delinsGCCCCGGGGCGACGT (p.Arg693=)
c.2799_2813delinsGCCCCGGGGCGACGT (p.Arg933=)
c.2949_2963delinsGCCCCGGGGCGACGT (p.Arg983=)
c.2922_2936delinsGCCCCGGGGCGACGT (p.Arg974=)
7g.150947369_150947388delCA2695208780KCNH2n.3927_3946del
c.3094_3113del (p.Arg1032GlyfsTer?)
c.2074_2093del (p.Arg692GlyfsTer?)
c.2794_2813del (p.Arg932GlyfsTer?)
c.2944_2963del (p.Arg982GlyfsTer?)
c.2917_2936del (p.Arg973GlyfsTer?)
7g.150947368C>ACA037127KCNH2n.3945G>T
c.3112G>T (p.Val1038Leu)
c.2092G>T (p.Val698Leu)
c.2812G>T (p.Val938Leu)
c.2962G>T (p.Val988Leu)
c.2935G>T (p.Val979Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947368C=CA1752428537KCNH2n.3945G=
c.3112G= (p.Val1038=)
c.2092G= (p.Val698=)
c.2812G= (p.Val938=)
c.2962G= (p.Val988=)
c.2935G= (p.Val979=)
7g.150947368C>GCA369852608KCNH2n.3945G>C
c.3112G>C (p.Val1038Leu)
c.2092G>C (p.Val698Leu)
c.2812G>C (p.Val938Leu)
c.2962G>C (p.Val988Leu)
c.2935G>C (p.Val979Leu)
7g.150947368C>TCA007991KCNH2n.3945G>A
c.3112G>A (p.Val1038Met)
c.2092G>A (p.Val698Met)
c.2812G>A (p.Val938Met)
c.2962G>A (p.Val988Met)
c.2935G>A (p.Val979Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947368_150947369insCGTCGCCCCGGGGCCA918162868KCNH2n.3945_3946insCCCCGGGGCGACGG
c.3112_3113insCCCCGGGGCGACGG (p.Val1038AlafsTer24)
c.2092_2093insCCCCGGGGCGACGG (p.Val698AlafsTer24)
c.2812_2813insCCCCGGGGCGACGG (p.Val938AlafsTer24)
c.2962_2963insCCCCGGGGCGACGG (p.Val988AlafsTer24)
c.2935_2936insCCCCGGGGCGACGG (p.Val979AlafsTer24)
dbSNP
7g.150947370_150947372dupCA2685601815KCNH2n.3943_3945dup
c.3110_3112dup (p.Asp1037_Val1038insAsp)
c.2090_2092dup (p.Asp697_Val698insAsp)
c.2810_2812dup (p.Asp937_Val938insAsp)
c.2960_2962dup (p.Asp987_Val988insAsp)
c.2933_2935dup (p.Asp978_Val979insAsp)
gnomAD v4
7g.150947369_150947373dupCA1139660329KCNH2n.3941_3945dup
c.3108_3112dup (p.Val1038AlafsTer21)
c.2088_2092dup (p.Val698AlafsTer21)
c.2808_2812dup (p.Val938AlafsTer21)
c.2958_2962dup (p.Val988AlafsTer21)
c.2931_2935dup (p.Val979AlafsTer21)
ClinVar dbSNP
7g.150947369_150947374dupCA579075354KCNH2n.3940_3945dup
c.3107_3112dup (p.Asp1037_Val1038insGlyAsp)
c.2087_2092dup (p.Asp697_Val698insGlyAsp)
c.2807_2812dup (p.Asp937_Val938insGlyAsp)
c.2957_2962dup (p.Asp987_Val988insGlyAsp)
c.2930_2935dup (p.Asp978_Val979insGlyAsp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947368_150947375delinsGTCA2580077701KCNH2n.3938_3945delinsAC
c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu)
c.2085_2092delinsAC (p.Gly696_Val698delinsLeu)
c.2805_2812delinsAC (p.Gly936_Val938delinsLeu)
c.2955_2962delinsAC (p.Gly986_Val988delinsLeu)
c.2928_2935delinsAC (p.Gly977_Val979delinsLeu)
ClinVar
7g.150947369_150947375dupCA658797027KCNH2n.3939_3945dup
c.3106_3112dup (p.Val1038GlyfsTer?)
c.2086_2092dup (p.Val698GlyfsTer?)
c.2806_2812dup (p.Val938GlyfsTer?)
c.2956_2962dup (p.Val988GlyfsTer?)
c.2929_2935dup (p.Val979GlyfsTer?)
ClinVar dbSNP
7g.150947370_150947377dupCA305338KCNH2n.3938_3945dup
c.3105_3112dup (p.Val1038GlyfsTer22)
c.2085_2092dup (p.Val698GlyfsTer22)
c.2805_2812dup (p.Val938GlyfsTer22)
c.2955_2962dup (p.Val988GlyfsTer22)
c.2928_2935dup (p.Val979GlyfsTer22)
ClinVar dbSNP
7g.150947370_150947383dupCA2685601816KCNH2n.3932_3945dup
c.3099_3112dup (p.Val1038GlyfsTer24)
c.2079_2092dup (p.Val698GlyfsTer24)
c.2799_2812dup (p.Val938GlyfsTer24)
c.2949_2962dup (p.Val988GlyfsTer24)
c.2922_2935dup (p.Val979GlyfsTer24)
gnomAD v4
7g.150947370_150947383delCA16618397KCNH2n.3932_3945del
c.3099_3112del (p.Pro1034GlyfsTer?)
c.2079_2092del (p.Pro694GlyfsTer?)
c.2799_2812del (p.Pro934GlyfsTer?)
c.2949_2962del (p.Pro984GlyfsTer?)
c.2922_2935del (p.Pro975GlyfsTer?)
ClinVar dbSNP
7g.150947370_150947386delCA658761307KCNH2n.3929_3945del
c.3096_3112del (p.Arg1033GlyfsTer?)
c.2076_2092del (p.Arg693GlyfsTer?)
c.2796_2812del (p.Arg933GlyfsTer?)
c.2946_2962del (p.Arg983GlyfsTer?)
c.2919_2935del (p.Arg974GlyfsTer?)
7g.150947368_150947403delCA2685601817KCNH2n.3910_3945del
c.3077_3112del (p.Pro1026_Val1038delinsLeu)
c.2057_2092del (p.Pro686_Val698delinsLeu)
c.2777_2812del (p.Pro926_Val938delinsLeu)
c.2927_2962del (p.Pro976_Val988delinsLeu)
c.2900_2935del (p.Pro967_Val979delinsLeu)
dbSNP gnomAD v4
7g.150947369G>ACA007976KCNH2n.3944C>T
c.3111C>T (p.Asp1037=)
c.2091C>T (p.Asp697=)
c.2811C>T (p.Asp937=)
c.2961C>T (p.Asp987=)
c.2934C>T (p.Asp978=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947369G>CCA369852611KCNH2n.3944C>G
c.3111C>G (p.Asp1037Glu)
c.2091C>G (p.Asp697Glu)
c.2811C>G (p.Asp937Glu)
c.2961C>G (p.Asp987Glu)
c.2934C>G (p.Asp978Glu)
7g.150947369G=CA1752428552KCNH2n.3944C=
c.3111C= (p.Asp1037=)
c.2091C= (p.Asp697=)
c.2811C= (p.Asp937=)
c.2961C= (p.Asp987=)
c.2934C= (p.Asp978=)
7g.150947369G>TCA369852613KCNH2n.3944C>A
c.3111C>A (p.Asp1037Glu)
c.2091C>A (p.Asp697Glu)
c.2811C>A (p.Asp937Glu)
c.2961C>A (p.Asp987Glu)
c.2934C>A (p.Asp978Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947370_150947379delCA2695208782KCNH2n.3935_3944del
c.3102_3111del (p.Arg1035TrpfsTer19)
c.2082_2091del (p.Arg695TrpfsTer19)
c.2802_2811del (p.Arg935TrpfsTer19)
c.2952_2961del (p.Arg985TrpfsTer19)
c.2925_2934del (p.Arg976TrpfsTer19)
7g.150947370T>ACA369852616KCNH2n.3943A>T
c.3110A>T (p.Asp1037Val)
c.2090A>T (p.Asp697Val)
c.2810A>T (p.Asp937Val)
c.2960A>T (p.Asp987Val)
c.2933A>T (p.Asp978Val)
7g.150947370T>CCA369852618KCNH2n.3943A>G
c.3110A>G (p.Asp1037Gly)
c.2090A>G (p.Asp697Gly)
c.2810A>G (p.Asp937Gly)
c.2960A>G (p.Asp987Gly)
c.2933A>G (p.Asp978Gly)
7g.150947370T>GCA369852615KCNH2n.3943A>C
c.3110A>C (p.Asp1037Ala)
c.2090A>C (p.Asp697Ala)
c.2810A>C (p.Asp937Ala)
c.2960A>C (p.Asp987Ala)
c.2933A>C (p.Asp978Ala)
7g.150947370_150947381delinsTCGCCCCGGGGCCA1752428556KCNH2n.3932_3943delinsGCCCCGGGGCGA
c.3099_3110delinsGCCCCGGGGCGA (p.Arg1033=)
c.2079_2090delinsGCCCCGGGGCGA (p.Arg693=)
c.2799_2810delinsGCCCCGGGGCGA (p.Arg933=)
c.2949_2960delinsGCCCCGGGGCGA (p.Arg983=)
c.2922_2933delinsGCCCCGGGGCGA (p.Arg974=)
7g.150947371C>ACA369852620KCNH2n.3942G>T
c.3109G>T (p.Asp1037Tyr)
c.2089G>T (p.Asp697Tyr)
c.2809G>T (p.Asp937Tyr)
c.2959G>T (p.Asp987Tyr)
c.2932G>T (p.Asp978Tyr)
dbSNP gnomAD v4
7g.150947371C=CA1752428565KCNH2n.3942G=
c.3109G= (p.Asp1037=)
c.2089G= (p.Asp697=)
c.2809G= (p.Asp937=)
c.2959G= (p.Asp987=)
c.2932G= (p.Asp978=)
7g.150947371C>GCA369852621KCNH2n.3942G>C
c.3109G>C (p.Asp1037His)
c.2089G>C (p.Asp697His)
c.2809G>C (p.Asp937His)
c.2959G>C (p.Asp987His)
c.2932G>C (p.Asp978His)
7g.150947371C>TCA007968KCNH2n.3942G>A
c.3109G>A (p.Asp1037Asn)
c.2089G>A (p.Asp697Asn)
c.2809G>A (p.Asp937Asn)
c.2959G>A (p.Asp987Asn)
c.2932G>A (p.Asp978Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947372_150947375dupCA658761308KCNH2n.3939_3942dup
c.3106_3109dup (p.Asp1037GlyfsTer?)
c.2086_2089dup (p.Asp697GlyfsTer?)
c.2806_2809dup (p.Asp937GlyfsTer?)
c.2956_2959dup (p.Asp987GlyfsTer?)
c.2929_2932dup (p.Asp978GlyfsTer?)
7g.150947373_150947377dupCA2573141844KCNH2n.3938_3942dup
c.3105_3109dup (p.Asp1037GlyfsTer22)
c.2085_2089dup (p.Asp697GlyfsTer22)
c.2805_2809dup (p.Asp937GlyfsTer22)
c.2955_2959dup (p.Asp987GlyfsTer22)
c.2928_2932dup (p.Asp978GlyfsTer22)
ClinVar dbSNP
7g.150947375_150947385dupCA16612298KCNH2n.3932_3942dup
c.3099_3109dup (p.Asp1037GlyfsTer24)
c.2079_2089dup (p.Asp697GlyfsTer24)
c.2799_2809dup (p.Asp937GlyfsTer24)
c.2949_2959dup (p.Asp987GlyfsTer24)
c.2922_2932dup (p.Asp978GlyfsTer24)
ClinVar dbSNP
7g.150947375_150947385delCA007922KCNH2n.3932_3942del
c.3099_3109del (p.Pro1034ArgfsTer?)
c.2079_2089del (p.Pro694ArgfsTer?)
c.2799_2809del (p.Pro934ArgfsTer?)
c.2949_2959del (p.Pro984ArgfsTer?)
c.2922_2932del (p.Pro975ArgfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947373_150947386delCA2579062673KCNH2n.3929_3942del
c.3096_3109del (p.Pro1034GlyfsTer?)
c.2076_2089del (p.Pro694GlyfsTer?)
c.2796_2809del (p.Pro934GlyfsTer?)
c.2946_2959del (p.Pro984GlyfsTer?)
c.2919_2932del (p.Pro975GlyfsTer?)
7g.150947372_150953685dupCA2580614280KCNH2n.1962-831_3942dup
c.1129-831_3109dup
c.109-831_2089dup
c.829-831_2809dup
c.979-831_2959dup
c.952-831_2932dup
7g.150947372G>ACA037083KCNH2n.3941C>T
c.3108C>T (p.Gly1036=)
c.2088C>T (p.Gly696=)
c.2808C>T (p.Gly936=)
c.2958C>T (p.Gly986=)
c.2931C>T (p.Gly977=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947372G>CCA458644829KCNH2n.3941C>G
c.3108C>G (p.Gly1036=)
c.2088C>G (p.Gly696=)
c.2808C>G (p.Gly936=)
c.2958C>G (p.Gly986=)
c.2931C>G (p.Gly977=)
7g.150947372G=CA1752428580KCNH2n.3941C=
c.3108C= (p.Gly1036=)
c.2088C= (p.Gly696=)
c.2808C= (p.Gly936=)
c.2958C= (p.Gly986=)
c.2931C= (p.Gly977=)
7g.150947372G>TCA458644830KCNH2n.3941C>A
c.3108C>A (p.Gly1036=)
c.2088C>A (p.Gly696=)
c.2808C>A (p.Gly936=)
c.2958C>A (p.Gly986=)
c.2931C>A (p.Gly977=)
gnomAD v4
7g.150947372dupCA915945567KCNH2n.3941dup
c.3108dup (p.Asp1037ArgfsTer?)
c.2088dup (p.Asp697ArgfsTer?)
c.2808dup (p.Asp937ArgfsTer?)
c.2958dup (p.Asp987ArgfsTer?)
c.2931dup (p.Asp978ArgfsTer?)
ClinVar dbSNP
7g.150947372_150947373delinsGCCA1752428582KCNH2n.3940_3941delinsGC
c.3107_3108delinsGC (p.Gly1036=)
c.2087_2088delinsGC (p.Gly696=)
c.2807_2808delinsGC (p.Gly936=)
c.2957_2958delinsGC (p.Gly986=)
c.2930_2931delinsGC (p.Gly977=)
7g.150947372_150947380delinsGCCCCGGGGCA1752428579KCNH2n.3933_3941delinsCCCCGGGGC
c.3100_3108delinsCCCCGGGGC (p.Pro1034=)
c.2080_2088delinsCCCCGGGGC (p.Pro694=)
c.2800_2808delinsCCCCGGGGC (p.Pro934=)
c.2950_2958delinsCCCCGGGGC (p.Pro984=)
c.2923_2931delinsCCCCGGGGC (p.Pro975=)
7g.150947375_150947382delCA2499218782KCNH2n.3934_3941del
c.3101_3108del (p.Pro1034ArgfsTer?)
c.2081_2088del (p.Pro694ArgfsTer?)
c.2801_2808del (p.Pro934ArgfsTer?)
c.2951_2958del (p.Pro984ArgfsTer?)
c.2924_2931del (p.Pro975ArgfsTer?)
ClinVar dbSNP
7g.150947373C>ACA369852628KCNH2n.3940G>T
c.3107G>T (p.Gly1036Val)
c.2087G>T (p.Gly696Val)
c.2807G>T (p.Gly936Val)
c.2957G>T (p.Gly986Val)
c.2930G>T (p.Gly977Val)
dbSNP gnomAD v3 gnomAD v4
7g.150947373C=CA1752428604KCNH2n.3940G=
c.3107G= (p.Gly1036=)
c.2087G= (p.Gly696=)
c.2807G= (p.Gly936=)
c.2957G= (p.Gly986=)
c.2930G= (p.Gly977=)
7g.150947373C>GCA369852630KCNH2n.3940G>C
c.3107G>C (p.Gly1036Ala)
c.2087G>C (p.Gly696Ala)
c.2807G>C (p.Gly936Ala)
c.2957G>C (p.Gly986Ala)
c.2930G>C (p.Gly977Ala)
7g.150947373C>TCA007960KCNH2n.3940G>A
c.3107G>A (p.Gly1036Asp)
c.2087G>A (p.Gly696Asp)
c.2807G>A (p.Gly936Asp)
c.2957G>A (p.Gly986Asp)
c.2930G>A (p.Gly977Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947373_150947376delCA2695208783KCNH2n.3937_3940del
c.3104_3107del (p.Arg1035ProfsTer21)
c.2084_2087del (p.Arg695ProfsTer21)
c.2804_2807del (p.Arg935ProfsTer21)
c.2954_2957del (p.Arg985ProfsTer21)
c.2927_2930del (p.Arg976ProfsTer21)
7g.150947376dupCA305506KCNH2n.3940dup
c.3107dup (p.Asp1037ArgfsTer?)
c.2087dup (p.Asp697ArgfsTer?)
c.2807dup (p.Asp937ArgfsTer?)
c.2957dup (p.Asp987ArgfsTer?)
c.2930dup (p.Asp978ArgfsTer?)
ClinVar dbSNP gnomAD v4
7g.150947375_150947376dupCA16042570KCNH2n.3939_3940dup
c.3106_3107dup (p.Asp1037AlafsTer21)
c.2086_2087dup (p.Asp697AlafsTer21)
c.2806_2807dup (p.Asp937AlafsTer21)
c.2956_2957dup (p.Asp987AlafsTer21)
c.2929_2930dup (p.Asp978AlafsTer21)
ClinVar dbSNP
7g.150947374_150947376dupCA579075355KCNH2n.3938_3940dup
c.3105_3107dup (p.Gly1036_Asp1037insGly)
c.2085_2087dup (p.Gly696_Asp697insGly)
c.2805_2807dup (p.Gly936_Asp937insGly)
c.2955_2957dup (p.Gly986_Asp987insGly)
c.2928_2930dup (p.Gly977_Asp978insGly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947373_150947376dupCA305337KCNH2n.3937_3940dup
c.3104_3107dup (p.Asp1037GlyfsTer?)
c.2084_2087dup (p.Asp697GlyfsTer?)
c.2804_2807dup (p.Asp937GlyfsTer?)
c.2954_2957dup (p.Asp987GlyfsTer?)
c.2927_2930dup (p.Asp978GlyfsTer?)
ClinVar dbSNP
7g.150947376delCA007951KCNH2n.3940del
c.3107del (p.Gly1036AlafsTer21)
c.2087del (p.Gly696AlafsTer21)
c.2807del (p.Gly936AlafsTer21)
c.2957del (p.Gly986AlafsTer21)
c.2930del (p.Gly977AlafsTer21)
ClinVar dbSNP gnomAD v4
7g.150947373_150947380delinsGCCCA1139660330KCNH2n.3933_3940delinsGGC
c.3100_3107delinsGGC (p.Pro1034GlyfsTer?)
c.2080_2087delinsGGC (p.Pro694GlyfsTer?)
c.2800_2807delinsGGC (p.Pro934GlyfsTer?)
c.2950_2957delinsGGC (p.Pro984GlyfsTer?)
c.2923_2930delinsGGC (p.Pro975GlyfsTer?)
ClinVar dbSNP
7g.150947373_150947385dupCA658797028KCNH2n.3928_3940dup
c.3095_3107dup (p.Asp1037AlafsTer?)
c.2075_2087dup (p.Asp697AlafsTer?)
c.2795_2807dup (p.Asp937AlafsTer?)
c.2945_2957dup (p.Asp987AlafsTer?)
c.2918_2930dup (p.Asp978AlafsTer?)
ClinVar dbSNP
7g.150947373_150947387delinsCCCCGGGGCCGCCGACA1752428603KCNH2n.3926_3940delinsTCGGCGGCCCCGGGG
c.3093_3107delinsTCGGCGGCCCCGGGG (p.Gly1031=)
c.2073_2087delinsTCGGCGGCCCCGGGG (p.Gly691=)
c.2793_2807delinsTCGGCGGCCCCGGGG (p.Gly931=)
c.2943_2957delinsTCGGCGGCCCCGGGG (p.Gly981=)
c.2916_2930delinsTCGGCGGCCCCGGGG (p.Gly972=)
7g.150947374C>ACA369852638KCNH2n.3939G>T
c.3106G>T (p.Gly1036Cys)
c.2086G>T (p.Gly696Cys)
c.2806G>T (p.Gly936Cys)
c.2956G>T (p.Gly986Cys)
c.2929G>T (p.Gly977Cys)
gnomAD v4
7g.150947374C=CA1752428638KCNH2n.3939G=
c.3106G= (p.Gly1036=)
c.2086G= (p.Gly696=)
c.2806G= (p.Gly936=)
c.2956G= (p.Gly986=)
c.2929G= (p.Gly977=)
7g.150947374C>GCA369852636KCNH2n.3939G>C
c.3106G>C (p.Gly1036Arg)
c.2086G>C (p.Gly696Arg)
c.2806G>C (p.Gly936Arg)
c.2956G>C (p.Gly986Arg)
c.2929G>C (p.Gly977Arg)
7g.150947374C>TCA369852634KCNH2n.3939G>A
c.3106G>A (p.Gly1036Ser)
c.2086G>A (p.Gly696Ser)
c.2806G>A (p.Gly936Ser)
c.2956G>A (p.Gly986Ser)
c.2929G>A (p.Gly977Ser)
ClinVar dbSNP gnomAD v4
7g.150947376_150947382dupCA658656011KCNH2n.3933_3939dup
c.3100_3106dup (p.Gly1036AlafsTer?)
c.2080_2086dup (p.Gly696AlafsTer?)
c.2800_2806dup (p.Gly936AlafsTer?)
c.2950_2956dup (p.Gly986AlafsTer?)
c.2923_2929dup (p.Gly977AlafsTer?)
ClinVar dbSNP
7g.150947376_150947385dupCA2499218783KCNH2n.3930_3939dup
c.3097_3106dup (p.Gly1036AlafsTer?)
c.2077_2086dup (p.Gly696AlafsTer?)
c.2797_2806dup (p.Gly936AlafsTer?)
c.2947_2956dup (p.Gly986AlafsTer?)
c.2920_2929dup (p.Gly977AlafsTer?)
ClinVar dbSNP
7g.150947380_150947393delCA658761310KCNH2n.3926_3939del
c.3093_3106del (p.Pro1034GlyfsTer?)
c.2073_2086del (p.Pro694GlyfsTer?)
c.2793_2806del (p.Pro934GlyfsTer?)
c.2943_2956del (p.Pro984GlyfsTer?)
c.2916_2929del (p.Pro975GlyfsTer?)
ClinVar dbSNP
7g.150947375C>ACA458644834KCNH2n.3938G>T
c.3105G>T (p.Arg1035=)
c.2085G>T (p.Arg695=)
c.2805G>T (p.Arg935=)
c.2955G>T (p.Arg985=)
c.2928G>T (p.Arg976=)
dbSNP gnomAD v2 gnomAD v4
7g.150947375C=CA1752428641KCNH2n.3938G=
c.3105G= (p.Arg1035=)
c.2085G= (p.Arg695=)
c.2805G= (p.Arg935=)
c.2955G= (p.Arg985=)
c.2928G= (p.Arg976=)
7g.150947375C>GCA458644833KCNH2n.3938G>C
c.3105G>C (p.Arg1035=)
c.2085G>C (p.Arg695=)
c.2805G>C (p.Arg935=)
c.2955G>C (p.Arg985=)
c.2928G>C (p.Arg976=)
7g.150947375C>TCA458644832KCNH2n.3938G>A
c.3105G>A (p.Arg1035=)
c.2085G>A (p.Arg695=)
c.2805G>A (p.Arg935=)
c.2955G>A (p.Arg985=)
c.2928G>A (p.Arg976=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947378_150947386dupCA2685601852KCNH2n.3930_3938dup
c.3097_3105dup (p.Arg1035_Gly1036insArgProArg)
c.2077_2085dup (p.Arg695_Gly696insArgProArg)
c.2797_2805dup (p.Arg935_Gly936insArgProArg)
c.2947_2955dup (p.Arg985_Gly986insArgProArg)
c.2920_2928dup (p.Arg976_Gly977insArgProArg)
gnomAD v4
7g.150947375_150947388delinsGACA2580077706KCNH2n.3925_3938delinsTC
c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal)
c.2072_2085delinsTC (p.Gly691_Arg695delinsVal)
c.2792_2805delinsTC (p.Gly931_Arg935delinsVal)
c.2942_2955delinsTC (p.Gly981_Arg985delinsVal)
c.2915_2928delinsTC (p.Gly972_Arg976delinsVal)
ClinVar
7g.150947375_150947376insGGCA2695208784KCNH2n.3937_3938insCC
c.3104_3105insCC (p.Gly1036ArgfsTer22)
c.2084_2085insCC (p.Gly696ArgfsTer22)
c.2804_2805insCC (p.Gly936ArgfsTer22)
c.2954_2955insCC (p.Gly986ArgfsTer22)
c.2927_2928insCC (p.Gly977ArgfsTer22)
7g.150947376C>ACA369852640KCNH2n.3937G>T
c.3104G>T (p.Arg1035Leu)
c.2084G>T (p.Arg695Leu)
c.2804G>T (p.Arg935Leu)
c.2954G>T (p.Arg985Leu)
c.2927G>T (p.Arg976Leu)
dbSNP gnomAD v4
7g.150947376C=CA1752428646KCNH2n.3937G=
c.3104G= (p.Arg1035=)
c.2084G= (p.Arg695=)
c.2804G= (p.Arg935=)
c.2954G= (p.Arg985=)
c.2927G= (p.Arg976=)
7g.150947376C>GCA369852641KCNH2n.3937G>C
c.3104G>C (p.Arg1035Pro)
c.2084G>C (p.Arg695Pro)
c.2804G>C (p.Arg935Pro)
c.2954G>C (p.Arg985Pro)
c.2927G>C (p.Arg976Pro)
gnomAD v4
7g.150947376C>TCA037044KCNH2n.3937G>A
c.3104G>A (p.Arg1035Gln)
c.2084G>A (p.Arg695Gln)
c.2804G>A (p.Arg935Gln)
c.2954G>A (p.Arg985Gln)
c.2927G>A (p.Arg976Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947376_150947377delinsCGCA1752428649KCNH2n.3936_3937delinsCG
c.3103_3104delinsCG (p.Arg1035=)
c.2083_2084delinsCG (p.Arg695=)
c.2803_2804delinsCG (p.Arg935=)
c.2953_2954delinsCG (p.Arg985=)
c.2926_2927delinsCG (p.Arg976=)
7g.150947377G>ACA007929KCNH2n.3936C>T
c.3103C>T (p.Arg1035Trp)
c.2083C>T (p.Arg695Trp)
c.2803C>T (p.Arg935Trp)
c.2953C>T (p.Arg985Trp)
c.2926C>T (p.Arg976Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150947377G>CCA369852644KCNH2n.3936C>G
c.3103C>G (p.Arg1035Gly)
c.2083C>G (p.Arg695Gly)
c.2803C>G (p.Arg935Gly)
c.2953C>G (p.Arg985Gly)
c.2926C>G (p.Arg976Gly)
gnomAD v4
7g.150947377G=CA1752428660KCNH2n.3936C=
c.3103C= (p.Arg1035=)
c.2083C= (p.Arg695=)
c.2803C= (p.Arg935=)
c.2953C= (p.Arg985=)
c.2926C= (p.Arg976=)
7g.150947377G>TCA037022KCNH2n.3936C>A
c.3103C>A (p.Arg1035=)
c.2083C>A (p.Arg695=)
c.2803C>A (p.Arg935=)
c.2953C>A (p.Arg985=)
c.2926C>A (p.Arg976=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947380dupCA916080374KCNH2n.3936dup
c.3103dup (p.Arg1035ProfsTer?)
c.2083dup (p.Arg695ProfsTer?)
c.2803dup (p.Arg935ProfsTer?)
c.2953dup (p.Arg985ProfsTer?)
c.2926dup (p.Arg976ProfsTer?)
ClinVar dbSNP gnomAD v4
7g.150947379_150947380dupCA2573332602KCNH2n.3935_3936dup
c.3102_3103dup (p.Arg1035ProfsTer23)
c.2082_2083dup (p.Arg695ProfsTer23)
c.2802_2803dup (p.Arg935ProfsTer23)
c.2952_2953dup (p.Arg985ProfsTer23)
c.2925_2926dup (p.Arg976ProfsTer23)
7g.150947377_150947380dupCA2580077707KCNH2n.3933_3936dup
c.3100_3103dup (p.Arg1035ProfsTer?)
c.2080_2083dup (p.Arg695ProfsTer?)
c.2800_2803dup (p.Arg935ProfsTer?)
c.2950_2953dup (p.Arg985ProfsTer?)
c.2923_2926dup (p.Arg976ProfsTer?)
ClinVar
7g.150947380delCA007936KCNH2n.3936del
c.3103del (p.Arg1035GlyfsTer22)
c.2083del (p.Arg695GlyfsTer22)
c.2803del (p.Arg935GlyfsTer22)
c.2953del (p.Arg985GlyfsTer22)
c.2926del (p.Arg976GlyfsTer22)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947379_150947380delCA2695208785KCNH2n.3935_3936del
c.3102_3103del (p.Arg1035GlyfsTer?)
c.2082_2083del (p.Arg695GlyfsTer?)
c.2802_2803del (p.Arg935GlyfsTer?)
c.2952_2953del (p.Arg985GlyfsTer?)
c.2925_2926del (p.Arg976GlyfsTer?)
7g.150947377_150947382delinsGGGGCCCA1752428662KCNH2n.3931_3936delinsGGCCCC
c.3098_3103delinsGGCCCC (p.Arg1033=)
c.2078_2083delinsGGCCCC (p.Arg693=)
c.2798_2803delinsGGCCCC (p.Arg933=)
c.2948_2953delinsGGCCCC (p.Arg983=)
c.2921_2926delinsGGCCCC (p.Arg974=)
7g.150947377_150947390delinsGGGGCCGCCGACCCCA1752428663KCNH2n.3923_3936delinsGGGTCGGCGGCCCC
c.3090_3103delinsGGGTCGGCGGCCCC (p.Pro1030=)
c.2070_2083delinsGGGTCGGCGGCCCC (p.Pro690=)
c.2790_2803delinsGGGTCGGCGGCCCC (p.Pro930=)
c.2940_2953delinsGGGTCGGCGGCCCC (p.Pro980=)
c.2913_2926delinsGGGTCGGCGGCCCC (p.Pro971=)
7g.150947377_150947378insCCA2695208786KCNH2n.3935_3936insG
c.3102_3103insG (p.Arg1035AlafsTer?)
c.2082_2083insG (p.Arg695AlafsTer?)
c.2802_2803insG (p.Arg935AlafsTer?)
c.2952_2953insG (p.Arg985AlafsTer?)
c.2925_2926insG (p.Arg976AlafsTer?)
7g.150947378G>ACA458644838KCNH2n.3935C>T
c.3102C>T (p.Pro1034=)
c.2082C>T (p.Pro694=)
c.2802C>T (p.Pro934=)
c.2952C>T (p.Pro984=)
c.2925C>T (p.Pro975=)
gnomAD v4
7g.150947378G>CCA458644839KCNH2n.3935C>G
c.3102C>G (p.Pro1034=)
c.2082C>G (p.Pro694=)
c.2802C>G (p.Pro934=)
c.2952C>G (p.Pro984=)
c.2925C>G (p.Pro975=)
7g.150947378G>TCA458644840KCNH2n.3935C>A
c.3102C>A (p.Pro1034=)
c.2082C>A (p.Pro694=)
c.2802C>A (p.Pro934=)
c.2952C>A (p.Pro984=)
c.2925C>A (p.Pro975=)
gnomAD v4
7g.150947378_150947381dupCA915945568KCNH2n.3932_3935dup
c.3099_3102dup (p.Arg1035AlafsTer?)
c.2079_2082dup (p.Arg695AlafsTer?)
c.2799_2802dup (p.Arg935AlafsTer?)
c.2949_2952dup (p.Arg985AlafsTer?)
c.2922_2925dup (p.Arg976AlafsTer?)
ClinVar dbSNP
7g.150947379_150947383delCA579075356KCNH2n.3931_3935del
c.3098_3102del (p.Arg1033ProfsTer?)
c.2078_2082del (p.Arg693ProfsTer?)
c.2798_2802del (p.Arg933ProfsTer?)
c.2948_2952del (p.Arg983ProfsTer?)
c.2921_2925del (p.Arg974ProfsTer?)
dbSNP gnomAD v2 gnomAD v4
7g.150947382_150947394delCA658760375KCNH2n.3923_3935del
c.3090_3102del (p.Arg1032AlafsTer21)
c.2070_2082del (p.Arg692AlafsTer21)
c.2790_2802del (p.Arg932AlafsTer21)
c.2940_2952del (p.Arg982AlafsTer21)
c.2913_2925del (p.Arg973AlafsTer21)
ClinVar dbSNP
7g.150947379G>ACA369852647KCNH2n.3934C>T
c.3101C>T (p.Pro1034Leu)
c.2081C>T (p.Pro694Leu)
c.2801C>T (p.Pro934Leu)
c.2951C>T (p.Pro984Leu)
c.2924C>T (p.Pro975Leu)
gnomAD v4
7g.150947379G>CCA369852649KCNH2n.3934C>G
c.3101C>G (p.Pro1034Arg)
c.2081C>G (p.Pro694Arg)
c.2801C>G (p.Pro934Arg)
c.2951C>G (p.Pro984Arg)
c.2924C>G (p.Pro975Arg)
gnomAD v4
7g.150947379G=CA1752428683KCNH2n.3934C=
c.3101C= (p.Pro1034=)
c.2081C= (p.Pro694=)
c.2801C= (p.Pro934=)
c.2951C= (p.Pro984=)
c.2924C= (p.Pro975=)
7g.150947379G>TCA369852650KCNH2n.3934C>A
c.3101C>A (p.Pro1034His)
c.2081C>A (p.Pro694His)
c.2801C>A (p.Pro934His)
c.2951C>A (p.Pro984His)
c.2924C>A (p.Pro975His)
7g.150947380_150947383dupCA2697557663KCNH2n.3931_3934dup
c.3098_3101dup (p.Arg1035AlafsTer?)
c.2078_2081dup (p.Arg695AlafsTer?)
c.2798_2801dup (p.Arg935AlafsTer?)
c.2948_2951dup (p.Arg985AlafsTer?)
c.2921_2924dup (p.Arg976AlafsTer?)
ClinVar
7g.150947384_150947385insGACGGCCGCCA2573052837KCNH2n.3934_3935insGTCGCGGCC
c.3101_3102insGTCGCGGCC (p.Pro1034_Arg1035insSerArgPro)
c.2081_2082insGTCGCGGCC (p.Pro694_Arg695insSerArgPro)
c.2801_2802insGTCGCGGCC (p.Pro934_Arg935insSerArgPro)
c.2951_2952insGTCGCGGCC (p.Pro984_Arg985insSerArgPro)
c.2924_2925insGTCGCGGCC (p.Pro975_Arg976insSerArgPro)
ClinVar dbSNP gnomAD v4
7g.150947379_150947389delCA2695208787KCNH2n.3924_3934del
c.3091_3101del (p.Gly1031ProfsTer?)
c.2071_2081del (p.Gly691ProfsTer?)
c.2791_2801del (p.Gly931ProfsTer?)
c.2941_2951del (p.Gly981ProfsTer?)
c.2914_2924del (p.Gly972ProfsTer?)
7g.150947380G>ACA369852652KCNH2n.3933C>T
c.3100C>T (p.Pro1034Ser)
c.2080C>T (p.Pro694Ser)
c.2800C>T (p.Pro934Ser)
c.2950C>T (p.Pro984Ser)
c.2923C>T (p.Pro975Ser)
gnomAD v4
7g.150947380G>CCA369852653KCNH2n.3933C>G
c.3100C>G (p.Pro1034Ala)
c.2080C>G (p.Pro694Ala)
c.2800C>G (p.Pro934Ala)
c.2950C>G (p.Pro984Ala)
c.2923C>G (p.Pro975Ala)
7g.150947380G=CA1752428691KCNH2n.3933C=
c.3100C= (p.Pro1034=)
c.2080C= (p.Pro694=)
c.2800C= (p.Pro934=)
c.2950C= (p.Pro984=)
c.2923C= (p.Pro975=)
7g.150947380G>TCA369852655KCNH2n.3933C>A
c.3100C>A (p.Pro1034Thr)
c.2080C>A (p.Pro694Thr)
c.2800C>A (p.Pro934Thr)
c.2950C>A (p.Pro984Thr)
c.2923C>A (p.Pro975Thr)
gnomAD v4
7g.150947380_150947381delinsGCCA1752428689KCNH2n.3932_3933delinsGC
c.3099_3100delinsGC (p.Arg1033=)
c.2079_2080delinsGC (p.Arg693=)
c.2799_2800delinsGC (p.Arg933=)
c.2949_2950delinsGC (p.Arg983=)
c.2922_2923delinsGC (p.Arg974=)
7g.150947384_150947386dupCA16609793KCNH2n.3931_3933dup
c.3098_3100dup (p.Arg1033_Pro1034insArg)
c.2078_2080dup (p.Arg693_Pro694insArg)
c.2798_2800dup (p.Arg933_Pro934insArg)
c.2948_2950dup (p.Arg983_Pro984insArg)
c.2921_2923dup (p.Arg974_Pro975insArg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947381C>ACA169071881KCNH2n.3932G>T
c.3099G>T (p.Arg1033=)
c.2079G>T (p.Arg693=)
c.2799G>T (p.Arg933=)
c.2949G>T (p.Arg983=)
c.2922G>T (p.Arg974=)
dbSNP gnomAD v2 gnomAD v4
7g.150947381C=CA1752428710KCNH2n.3932G=
c.3099G= (p.Arg1033=)
c.2079G= (p.Arg693=)
c.2799G= (p.Arg933=)
c.2949G= (p.Arg983=)
c.2922G= (p.Arg974=)
7g.150947381C>GCA458644844KCNH2n.3932G>C
c.3099G>C (p.Arg1033=)
c.2079G>C (p.Arg693=)
c.2799G>C (p.Arg933=)
c.2949G>C (p.Arg983=)
c.2922G>C (p.Arg974=)
ClinVar dbSNP
7g.150947381C>TCA458644845KCNH2n.3932G>A
c.3099G>A (p.Arg1033=)
c.2079G>A (p.Arg693=)
c.2799G>A (p.Arg933=)
c.2949G>A (p.Arg983=)
c.2922G>A (p.Arg974=)
gnomAD v4
7g.150947382dupCA1139771242KCNH2n.3932dup
c.3099dup (p.Pro1034AlafsTer?)
c.2079dup (p.Pro694AlafsTer?)
c.2799dup (p.Pro934AlafsTer?)
c.2949dup (p.Pro984AlafsTer?)
c.2922dup (p.Pro975AlafsTer?)
ClinVar
7g.150947382delCA16042677KCNH2n.3932del
c.3099del (p.Arg1035GlyfsTer22)
c.2079del (p.Arg695GlyfsTer22)
c.2799del (p.Arg935GlyfsTer22)
c.2949del (p.Arg985GlyfsTer22)
c.2922del (p.Arg976GlyfsTer22)
ClinVar dbSNP
7g.150947382_150947385dupCA305336KCNH2n.3929_3932dup
c.3096_3099dup (p.Pro1034AlafsTer?)
c.2076_2079dup (p.Pro694AlafsTer?)
c.2796_2799dup (p.Pro934AlafsTer?)
c.2946_2949dup (p.Pro984AlafsTer?)
c.2919_2922dup (p.Pro975AlafsTer?)
ClinVar dbSNP gnomAD v4
7g.150947381_150947385dupCA10581150KCNH2n.3928_3932dup
c.3095_3099dup (p.Pro1034GlyfsTer25)
c.2075_2079dup (p.Pro694GlyfsTer25)
c.2795_2799dup (p.Pro934GlyfsTer25)
c.2945_2949dup (p.Pro984GlyfsTer25)
c.2918_2922dup (p.Pro975GlyfsTer25)
ClinVar dbSNP
7g.150947382_150947385delCA2573141845KCNH2n.3929_3932del
c.3096_3099del (p.Arg1033ProfsTer23)
c.2076_2079del (p.Arg693ProfsTer23)
c.2796_2799del (p.Arg933ProfsTer23)
c.2946_2949del (p.Arg983ProfsTer23)
c.2919_2922del (p.Arg974ProfsTer23)
ClinVar dbSNP gnomAD v4
7g.150947381_150947386delinsGCGACA2695208788KCNH2n.3927_3932delinsTCGC
c.3094_3099delinsTCGC (p.Arg1032SerfsTer?)
c.2074_2079delinsTCGC (p.Arg692SerfsTer?)
c.2794_2799delinsTCGC (p.Arg932SerfsTer?)
c.2944_2949delinsTCGC (p.Arg982SerfsTer?)
c.2917_2922delinsTCGC (p.Arg973SerfsTer?)
7g.150947381_150947394delCA2499218784KCNH2n.3919_3932del
c.3086_3099del (p.Ser1029ThrfsTer?)
c.2066_2079del (p.Ser689ThrfsTer?)
c.2786_2799del (p.Ser929ThrfsTer?)
c.2936_2949del (p.Ser979ThrfsTer?)
c.2909_2922del (p.Ser970ThrfsTer?)
ClinVar dbSNP

Number of alleles fetched