Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.150948492_150948502delinsTGAAGCCACCCCA1752431432KCNH2n.3467_3477delinsGGGTGGCTTCA
c.2634_2644delinsGGGTGGCTTCA (p.Glu878=)
c.1614_1624delinsGGGTGGCTTCA (p.Glu538=)
c.2334_2344delinsGGGTGGCTTCA (p.Glu778=)
c.2484_2494delinsGGGTGGCTTCA (p.Glu828=)
c.2457_2467delinsGGGTGGCTTCA (p.Glu819=)
7g.150948493_150948502delCA916080385KCNH2n.3467_3476del
c.2634_2643del (p.Gly879ValfsTer?)
c.1614_1623del (p.Gly539ValfsTer?)
c.2334_2343del (p.Gly779ValfsTer?)
c.2484_2493del (p.Gly829ValfsTer?)
c.2457_2466del (p.Gly820ValfsTer?)
ClinVar dbSNP
7g.150948501C>ACA369853792KCNH2n.3468G>T
c.2635G>T (p.Gly879Cys)
c.1615G>T (p.Gly539Cys)
c.2335G>T (p.Gly779Cys)
c.2485G>T (p.Gly829Cys)
c.2458G>T (p.Gly820Cys)
7g.150948501C=CA1752431453KCNH2n.3468G=
c.2635G= (p.Gly879=)
c.1615G= (p.Gly539=)
c.2335G= (p.Gly779=)
c.2485G= (p.Gly829=)
c.2458G= (p.Gly820=)
7g.150948501C>GCA007067KCNH2n.3468G>C
c.2635G>C (p.Gly879Arg)
c.1615G>C (p.Gly539Arg)
c.2335G>C (p.Gly779Arg)
c.2485G>C (p.Gly829Arg)
c.2458G>C (p.Gly820Arg)
ClinVar dbSNP
7g.150948501C>TCA369853790KCNH2n.3468G>A
c.2635G>A (p.Gly879Ser)
c.1615G>A (p.Gly539Ser)
c.2335G>A (p.Gly779Ser)
c.2485G>A (p.Gly829Ser)
c.2458G>A (p.Gly820Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948502C>ACA369853794KCNH2n.3467G>T
c.2634G>T (p.Glu878Asp)
c.1614G>T (p.Glu538Asp)
c.2334G>T (p.Glu778Asp)
c.2484G>T (p.Glu828Asp)
c.2457G>T (p.Glu819Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948502C=CA1752431455KCNH2n.3467G=
c.2634G= (p.Glu878=)
c.1614G= (p.Glu538=)
c.2334G= (p.Glu778=)
c.2484G= (p.Glu828=)
c.2457G= (p.Glu819=)
7g.150948502C>GCA369853795KCNH2n.3467G>C
c.2634G>C (p.Glu878Asp)
c.1614G>C (p.Glu538Asp)
c.2334G>C (p.Glu778Asp)
c.2484G>C (p.Glu828Asp)
c.2457G>C (p.Glu819Asp)
7g.150948502C>TCA458645010KCNH2n.3467G>A
c.2634G>A (p.Glu878=)
c.1614G>A (p.Glu538=)
c.2334G>A (p.Glu778=)
c.2484G>A (p.Glu828=)
c.2457G>A (p.Glu819=)
ClinVar dbSNP gnomAD v4
7g.150948503T>ACA369853797KCNH2n.3466A>T
c.2633A>T (p.Glu878Val)
c.1613A>T (p.Glu538Val)
c.2333A>T (p.Glu778Val)
c.2483A>T (p.Glu828Val)
c.2456A>T (p.Glu819Val)
7g.150948503T>CCA369853799KCNH2n.3466A>G
c.2633A>G (p.Glu878Gly)
c.1613A>G (p.Glu538Gly)
c.2333A>G (p.Glu778Gly)
c.2483A>G (p.Glu828Gly)
c.2456A>G (p.Glu819Gly)
7g.150948503T>GCA369853801KCNH2n.3466A>C
c.2633A>C (p.Glu878Ala)
c.1613A>C (p.Glu538Ala)
c.2333A>C (p.Glu778Ala)
c.2483A>C (p.Glu828Ala)
c.2456A>C (p.Glu819Ala)
7g.150948504C>ACA369853803KCNH2n.3465G>T
c.2632G>T (p.Glu878Ter)
c.1612G>T (p.Glu538Ter)
c.2332G>T (p.Glu778Ter)
c.2482G>T (p.Glu828Ter)
c.2455G>T (p.Glu819Ter)
7g.150948504C>GCA369853804KCNH2n.3465G>C
c.2632G>C (p.Glu878Gln)
c.1612G>C (p.Glu538Gln)
c.2332G>C (p.Glu778Gln)
c.2482G>C (p.Glu828Gln)
c.2455G>C (p.Glu819Gln)
7g.150948504C>TCA369853807KCNH2n.3465G>A
c.2632G>A (p.Glu878Lys)
c.1612G>A (p.Glu538Lys)
c.2332G>A (p.Glu778Lys)
c.2482G>A (p.Glu828Lys)
c.2455G>A (p.Glu819Lys)
7g.150948505T>ACA369853809KCNH2n.3464A>T
c.2631A>T (p.Leu877Phe)
c.1611A>T (p.Leu537Phe)
c.2331A>T (p.Leu777Phe)
c.2481A>T (p.Leu827Phe)
c.2454A>T (p.Leu818Phe)
7g.150948505T>CCA458645012KCNH2n.3464A>G
c.2631A>G (p.Leu877=)
c.1611A>G (p.Leu537=)
c.2331A>G (p.Leu777=)
c.2481A>G (p.Leu827=)
c.2454A>G (p.Leu818=)
ClinVar dbSNP gnomAD v2
7g.150948505T>GCA369853811KCNH2n.3464A>C
c.2631A>C (p.Leu877Phe)
c.1611A>C (p.Leu537Phe)
c.2331A>C (p.Leu777Phe)
c.2481A>C (p.Leu827Phe)
c.2454A>C (p.Leu818Phe)
7g.150948505T=CA1752431457KCNH2n.3464A=
c.2631A= (p.Leu877=)
c.1611A= (p.Leu537=)
c.2331A= (p.Leu777=)
c.2481A= (p.Leu827=)
c.2454A= (p.Leu818=)
7g.150948506A>CCA369853815KCNH2n.3463T>G
c.2630T>G (p.Leu877Ter)
c.1610T>G (p.Leu537Ter)
c.2330T>G (p.Leu777Ter)
c.2480T>G (p.Leu827Ter)
c.2453T>G (p.Leu818Ter)
7g.150948506A>GCA369853816KCNH2n.3463T>C
c.2630T>C (p.Leu877Ser)
c.1610T>C (p.Leu537Ser)
c.2330T>C (p.Leu777Ser)
c.2480T>C (p.Leu827Ser)
c.2453T>C (p.Leu818Ser)
7g.150948506A>TCA369853813KCNH2n.3463T>A
c.2630T>A (p.Leu877Ter)
c.1610T>A (p.Leu537Ter)
c.2330T>A (p.Leu777Ter)
c.2480T>A (p.Leu827Ter)
c.2453T>A (p.Leu818Ter)
7g.150948507A>CCA369853818KCNH2n.3462T>G
c.2629T>G (p.Leu877Val)
c.1609T>G (p.Leu537Val)
c.2329T>G (p.Leu777Val)
c.2479T>G (p.Leu827Val)
c.2452T>G (p.Leu818Val)
7g.150948507A>GCA458645013KCNH2n.3462T>C
c.2629T>C (p.Leu877=)
c.1609T>C (p.Leu537=)
c.2329T>C (p.Leu777=)
c.2479T>C (p.Leu827=)
c.2452T>C (p.Leu818=)
7g.150948507A>TCA369853819KCNH2n.3462T>A
c.2629T>A (p.Leu877Ile)
c.1609T>A (p.Leu537Ile)
c.2329T>A (p.Leu777Ile)
c.2479T>A (p.Leu827Ile)
c.2452T>A (p.Leu818Ile)
7g.150948508C>ACA369853821KCNH2n.3461G>T
c.2628G>T (p.Glu876Asp)
c.1608G>T (p.Glu536Asp)
c.2328G>T (p.Glu776Asp)
c.2478G>T (p.Glu826Asp)
c.2451G>T (p.Glu817Asp)
7g.150948508C>GCA369853822KCNH2n.3461G>C
c.2628G>C (p.Glu876Asp)
c.1608G>C (p.Glu536Asp)
c.2328G>C (p.Glu776Asp)
c.2478G>C (p.Glu826Asp)
c.2451G>C (p.Glu817Asp)
7g.150948508C>TCA458645014KCNH2n.3461G>A
c.2628G>A (p.Glu876=)
c.1608G>A (p.Glu536=)
c.2328G>A (p.Glu776=)
c.2478G>A (p.Glu826=)
c.2451G>A (p.Glu817=)
ClinVar
7g.150948509T>ACA369853828KCNH2n.3460A>T
c.2627A>T (p.Glu876Val)
c.1607A>T (p.Glu536Val)
c.2327A>T (p.Glu776Val)
c.2477A>T (p.Glu826Val)
c.2450A>T (p.Glu817Val)
7g.150948509T>CCA369853827KCNH2n.3460A>G
c.2627A>G (p.Glu876Gly)
c.1607A>G (p.Glu536Gly)
c.2327A>G (p.Glu776Gly)
c.2477A>G (p.Glu826Gly)
c.2450A>G (p.Glu817Gly)
7g.150948509T>GCA369853825KCNH2n.3460A>C
c.2627A>C (p.Glu876Ala)
c.1607A>C (p.Glu536Ala)
c.2327A>C (p.Glu776Ala)
c.2477A>C (p.Glu826Ala)
c.2450A>C (p.Glu817Ala)
7g.150948510C>ACA369853830KCNH2n.3459G>T
c.2626G>T (p.Glu876Ter)
c.1606G>T (p.Glu536Ter)
c.2326G>T (p.Glu776Ter)
c.2476G>T (p.Glu826Ter)
c.2449G>T (p.Glu817Ter)
ClinVar dbSNP
7g.150948510C=CA1752431464KCNH2n.3459G=
c.2626G= (p.Glu876=)
c.1606G= (p.Glu536=)
c.2326G= (p.Glu776=)
c.2476G= (p.Glu826=)
c.2449G= (p.Glu817=)
7g.150948510C>GCA369853832KCNH2n.3459G>C
c.2626G>C (p.Glu876Gln)
c.1606G>C (p.Glu536Gln)
c.2326G>C (p.Glu776Gln)
c.2476G>C (p.Glu826Gln)
c.2449G>C (p.Glu817Gln)
7g.150948510C>TCA369853833KCNH2n.3459G>A
c.2626G>A (p.Glu876Lys)
c.1606G>A (p.Glu536Lys)
c.2326G>A (p.Glu776Lys)
c.2476G>A (p.Glu826Lys)
c.2449G>A (p.Glu817Lys)
ClinVar dbSNP gnomAD v4
7g.150948513_150948520dupCA658761325KCNH2n.3452_3459dup
c.2619_2626dup (p.Glu876AlafsTer5)
c.1599_1606dup (p.Glu536AlafsTer5)
c.2319_2326dup (p.Glu776AlafsTer5)
c.2469_2476dup (p.Glu826AlafsTer5)
c.2442_2449dup (p.Glu817AlafsTer5)
7g.150948511C>ACA458645016KCNH2n.3458G>T
c.2625G>T (p.Thr875=)
c.1605G>T (p.Thr535=)
c.2325G>T (p.Thr775=)
c.2475G>T (p.Thr825=)
c.2448G>T (p.Thr816=)
7g.150948511C=CA1752431470KCNH2n.3458G=
c.2625G= (p.Thr875=)
c.1605G= (p.Thr535=)
c.2325G= (p.Thr775=)
c.2475G= (p.Thr825=)
c.2448G= (p.Thr816=)
7g.150948511C>GCA458645017KCNH2n.3458G>C
c.2625G>C (p.Thr875=)
c.1605G>C (p.Thr535=)
c.2325G>C (p.Thr775=)
c.2475G>C (p.Thr825=)
c.2448G>C (p.Thr816=)
7g.150948511C>TCA033558KCNH2n.3458G>A
c.2625G>A (p.Thr875=)
c.1605G>A (p.Thr535=)
c.2325G>A (p.Thr775=)
c.2475G>A (p.Thr825=)
c.2448G>A (p.Thr816=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948512G>ACA007057KCNH2n.3457C>T
c.2624C>T (p.Thr875Met)
c.1604C>T (p.Thr535Met)
c.2324C>T (p.Thr775Met)
c.2474C>T (p.Thr825Met)
c.2447C>T (p.Thr816Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948512G>CCA369853837KCNH2n.3457C>G
c.2624C>G (p.Thr875Arg)
c.1604C>G (p.Thr535Arg)
c.2324C>G (p.Thr775Arg)
c.2474C>G (p.Thr825Arg)
c.2447C>G (p.Thr816Arg)
ClinVar dbSNP
7g.150948512G=CA1752431478KCNH2n.3457C=
c.2624C= (p.Thr875=)
c.1604C= (p.Thr535=)
c.2324C= (p.Thr775=)
c.2474C= (p.Thr825=)
c.2447C= (p.Thr816=)
7g.150948512G>TCA369853839KCNH2n.3457C>A
c.2624C>A (p.Thr875Lys)
c.1604C>A (p.Thr535Lys)
c.2324C>A (p.Thr775Lys)
c.2474C>A (p.Thr825Lys)
c.2447C>A (p.Thr816Lys)
7g.150948513_150948517dupCA2695208819KCNH2n.3453_3457dup
c.2620_2624dup (p.Glu876ValfsTer4)
c.1600_1604dup (p.Glu536ValfsTer4)
c.2320_2324dup (p.Glu776ValfsTer4)
c.2470_2474dup (p.Glu826ValfsTer4)
c.2443_2447dup (p.Glu817ValfsTer4)
7g.150948513T>ACA369853843KCNH2n.3456A>T
c.2623A>T (p.Thr875Ser)
c.1603A>T (p.Thr535Ser)
c.2323A>T (p.Thr775Ser)
c.2473A>T (p.Thr825Ser)
c.2446A>T (p.Thr816Ser)
gnomAD v4
7g.150948513T>CCA369853845KCNH2n.3456A>G
c.2623A>G (p.Thr875Ala)
c.1603A>G (p.Thr535Ala)
c.2323A>G (p.Thr775Ala)
c.2473A>G (p.Thr825Ala)
c.2446A>G (p.Thr816Ala)
7g.150948513T>GCA369853841KCNH2n.3456A>C
c.2623A>C (p.Thr875Pro)
c.1603A>C (p.Thr535Pro)
c.2323A>C (p.Thr775Pro)
c.2473A>C (p.Thr825Pro)
c.2446A>C (p.Thr816Pro)
gnomAD v4
7g.150948514A=CA1752431482KCNH2n.3455T=
c.2622T= (p.Ser874=)
c.1602T= (p.Ser534=)
c.2322T= (p.Ser774=)
c.2472T= (p.Ser824=)
c.2445T= (p.Ser815=)
7g.150948514A>CCA369853847KCNH2n.3455T>G
c.2622T>G (p.Ser874Arg)
c.1602T>G (p.Ser534Arg)
c.2322T>G (p.Ser774Arg)
c.2472T>G (p.Ser824Arg)
c.2445T>G (p.Ser815Arg)
7g.150948514A>GCA458645018KCNH2n.3455T>C
c.2622T>C (p.Ser874=)
c.1602T>C (p.Ser534=)
c.2322T>C (p.Ser774=)
c.2472T>C (p.Ser824=)
c.2445T>C (p.Ser815=)
dbSNP gnomAD v2 gnomAD v4
7g.150948514A>TCA369853849KCNH2n.3455T>A
c.2622T>A (p.Ser874Arg)
c.1602T>A (p.Ser534Arg)
c.2322T>A (p.Ser774Arg)
c.2472T>A (p.Ser824Arg)
c.2445T>A (p.Ser815Arg)
7g.150948514_150948519dupCA2685600520KCNH2n.3450_3455dup
c.2617_2622dup (p.Ser874_Thr875insGlySer)
c.1597_1602dup (p.Ser534_Thr535insGlySer)
c.2317_2322dup (p.Ser774_Thr775insGlySer)
c.2467_2472dup (p.Ser824_Thr825insGlySer)
c.2440_2445dup (p.Ser815_Thr816insGlySer)
gnomAD v4
7g.150948515C>ACA369853851KCNH2n.3454G>T
c.2621G>T (p.Ser874Ile)
c.1601G>T (p.Ser534Ile)
c.2321G>T (p.Ser774Ile)
c.2471G>T (p.Ser824Ile)
c.2444G>T (p.Ser815Ile)
gnomAD v4
7g.150948515C>GCA369853853KCNH2n.3454G>C
c.2621G>C (p.Ser874Thr)
c.1601G>C (p.Ser534Thr)
c.2321G>C (p.Ser774Thr)
c.2471G>C (p.Ser824Thr)
c.2444G>C (p.Ser815Thr)
7g.150948515C>TCA369853855KCNH2n.3454G>A
c.2621G>A (p.Ser874Asn)
c.1601G>A (p.Ser534Asn)
c.2321G>A (p.Ser774Asn)
c.2471G>A (p.Ser824Asn)
c.2444G>A (p.Ser815Asn)
7g.150948516T>ACA369853857KCNH2n.3453A>T
c.2620A>T (p.Ser874Cys)
c.1600A>T (p.Ser534Cys)
c.2320A>T (p.Ser774Cys)
c.2470A>T (p.Ser824Cys)
c.2443A>T (p.Ser815Cys)
7g.150948516T>CCA369853859KCNH2n.3453A>G
c.2620A>G (p.Ser874Gly)
c.1600A>G (p.Ser534Gly)
c.2320A>G (p.Ser774Gly)
c.2470A>G (p.Ser824Gly)
c.2443A>G (p.Ser815Gly)
7g.150948516T>GCA369853861KCNH2n.3453A>C
c.2620A>C (p.Ser874Arg)
c.1600A>C (p.Ser534Arg)
c.2320A>C (p.Ser774Arg)
c.2470A>C (p.Ser824Arg)
c.2443A>C (p.Ser815Arg)
ClinVar
7g.150948517G>ACA458645019KCNH2n.3452C>T
c.2619C>T (p.Gly873=)
c.1599C>T (p.Gly533=)
c.2319C>T (p.Gly773=)
c.2469C>T (p.Gly823=)
c.2442C>T (p.Gly814=)
7g.150948517G>CCA458645020KCNH2n.3452C>G
c.2619C>G (p.Gly873=)
c.1599C>G (p.Gly533=)
c.2319C>G (p.Gly773=)
c.2469C>G (p.Gly823=)
c.2442C>G (p.Gly814=)
7g.150948517G>TCA458645021KCNH2n.3452C>A
c.2619C>A (p.Gly873=)
c.1599C>A (p.Gly533=)
c.2319C>A (p.Gly773=)
c.2469C>A (p.Gly823=)
c.2442C>A (p.Gly814=)
7g.150948518C>ACA369853863KCNH2n.3451G>T
c.2618G>T (p.Gly873Val)
c.1598G>T (p.Gly533Val)
c.2318G>T (p.Gly773Val)
c.2468G>T (p.Gly823Val)
c.2441G>T (p.Gly814Val)
7g.150948518C>GCA369853867KCNH2n.3451G>C
c.2618G>C (p.Gly873Ala)
c.1598G>C (p.Gly533Ala)
c.2318G>C (p.Gly773Ala)
c.2468G>C (p.Gly823Ala)
c.2441G>C (p.Gly814Ala)
7g.150948518C>TCA369853865KCNH2n.3451G>A
c.2618G>A (p.Gly873Asp)
c.1598G>A (p.Gly533Asp)
c.2318G>A (p.Gly773Asp)
c.2468G>A (p.Gly823Asp)
c.2441G>A (p.Gly814Asp)
7g.150948519C>ACA033518KCNH2n.3450G>T
c.2617G>T (p.Gly873Cys)
c.1597G>T (p.Gly533Cys)
c.2317G>T (p.Gly773Cys)
c.2467G>T (p.Gly823Cys)
c.2440G>T (p.Gly814Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948519C=CA1752431487KCNH2n.3450G=
c.2617G= (p.Gly873=)
c.1597G= (p.Gly533=)
c.2317G= (p.Gly773=)
c.2467G= (p.Gly823=)
c.2440G= (p.Gly814=)
7g.150948519C>GCA369853870KCNH2n.3450G>C
c.2617G>C (p.Gly873Arg)
c.1597G>C (p.Gly533Arg)
c.2317G>C (p.Gly773Arg)
c.2467G>C (p.Gly823Arg)
c.2440G>C (p.Gly814Arg)
ClinVar dbSNP gnomAD v4
7g.150948519C>TCA007051KCNH2n.3450G>A
c.2617G>A (p.Gly873Ser)
c.1597G>A (p.Gly533Ser)
c.2317G>A (p.Gly773Ser)
c.2467G>A (p.Gly823Ser)
c.2440G>A (p.Gly814Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948519_150948523delCA2695208820KCNH2n.3446_3450del
c.2613_2617del (p.Pro872GlnfsTer?)
c.1593_1597del (p.Pro532GlnfsTer?)
c.2313_2317del (p.Pro772GlnfsTer?)
c.2463_2467del (p.Pro822GlnfsTer?)
c.2436_2440del (p.Pro813GlnfsTer?)
7g.150948520G>ACA033489KCNH2n.3449C>T
c.2616C>T (p.Pro872=)
c.1596C>T (p.Pro532=)
c.2316C>T (p.Pro772=)
c.2466C>T (p.Pro822=)
c.2439C>T (p.Pro813=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948520G>CCA458645022KCNH2n.3449C>G
c.2616C>G (p.Pro872=)
c.1596C>G (p.Pro532=)
c.2316C>G (p.Pro772=)
c.2466C>G (p.Pro822=)
c.2439C>G (p.Pro813=)
7g.150948520G=CA1752431494KCNH2n.3449C=
c.2616C= (p.Pro872=)
c.1596C= (p.Pro532=)
c.2316C= (p.Pro772=)
c.2466C= (p.Pro822=)
c.2439C= (p.Pro813=)
7g.150948520G>TCA458645023KCNH2n.3449C>A
c.2616C>A (p.Pro872=)
c.1596C>A (p.Pro532=)
c.2316C>A (p.Pro772=)
c.2466C>A (p.Pro822=)
c.2439C>A (p.Pro813=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948524dupCA915945572KCNH2n.3449dup
c.2616dup (p.Gly873ArgfsTer?)
c.1596dup (p.Gly533ArgfsTer?)
c.2316dup (p.Gly773ArgfsTer?)
c.2466dup (p.Gly823ArgfsTer?)
c.2439dup (p.Gly814ArgfsTer?)
ClinVar dbSNP
7g.150948524delCA2579062628KCNH2n.3449del
c.2616del (p.Gly873AlafsTer5)
c.1596del (p.Gly533AlafsTer5)
c.2316del (p.Gly773AlafsTer5)
c.2466del (p.Gly823AlafsTer5)
c.2439del (p.Gly814AlafsTer5)
gnomAD v4
7g.150948521G>ACA369853874KCNH2n.3448C>T
c.2615C>T (p.Pro872Leu)
c.1595C>T (p.Pro532Leu)
c.2315C>T (p.Pro772Leu)
c.2465C>T (p.Pro822Leu)
c.2438C>T (p.Pro813Leu)
7g.150948521G>CCA369853877KCNH2n.3448C>G
c.2615C>G (p.Pro872Arg)
c.1595C>G (p.Pro532Arg)
c.2315C>G (p.Pro772Arg)
c.2465C>G (p.Pro822Arg)
c.2438C>G (p.Pro813Arg)
7g.150948521G>TCA369853875KCNH2n.3448C>A
c.2615C>A (p.Pro872His)
c.1595C>A (p.Pro532His)
c.2315C>A (p.Pro772His)
c.2465C>A (p.Pro822His)
c.2438C>A (p.Pro813His)
gnomAD v4
7g.150948522G>ACA369853879KCNH2n.3447C>T
c.2614C>T (p.Pro872Ser)
c.1594C>T (p.Pro532Ser)
c.2314C>T (p.Pro772Ser)
c.2464C>T (p.Pro822Ser)
c.2437C>T (p.Pro813Ser)
7g.150948522G>CCA369853881KCNH2n.3447C>G
c.2614C>G (p.Pro872Ala)
c.1594C>G (p.Pro532Ala)
c.2314C>G (p.Pro772Ala)
c.2464C>G (p.Pro822Ala)
c.2437C>G (p.Pro813Ala)
gnomAD v4
7g.150948522G>TCA369853883KCNH2n.3447C>A
c.2614C>A (p.Pro872Thr)
c.1594C>A (p.Pro532Thr)
c.2314C>A (p.Pro772Thr)
c.2464C>A (p.Pro822Thr)
c.2437C>A (p.Pro813Thr)
ClinVar
7g.150948526_150948533dupCA2695208821KCNH2n.3440_3447dup
c.2607_2614dup (p.Pro872ArgfsTer9)
c.1587_1594dup (p.Pro532ArgfsTer9)
c.2307_2314dup (p.Pro772ArgfsTer9)
c.2457_2464dup (p.Pro822ArgfsTer9)
c.2430_2437dup (p.Pro813ArgfsTer9)
7g.150948523G>ACA458645027KCNH2n.3446C>T
c.2613C>T (p.Ser871=)
c.1593C>T (p.Ser531=)
c.2313C>T (p.Ser771=)
c.2463C>T (p.Ser821=)
c.2436C>T (p.Ser812=)
ClinVar dbSNP gnomAD v4
7g.150948523G>CCA458645028KCNH2n.3446C>G
c.2613C>G (p.Ser871=)
c.1593C>G (p.Ser531=)
c.2313C>G (p.Ser771=)
c.2463C>G (p.Ser821=)
c.2436C>G (p.Ser812=)
7g.150948523G=CA1752431505KCNH2n.3446C=
c.2613C= (p.Ser871=)
c.1593C= (p.Ser531=)
c.2313C= (p.Ser771=)
c.2463C= (p.Ser821=)
c.2436C= (p.Ser812=)
7g.150948523G>TCA458645029KCNH2n.3446C>A
c.2613C>A (p.Ser871=)
c.1593C>A (p.Ser531=)
c.2313C>A (p.Ser771=)
c.2463C>A (p.Ser821=)
c.2436C>A (p.Ser812=)
gnomAD v4
7g.150948524G>ACA369853885KCNH2n.3445C>T
c.2612C>T (p.Ser871Phe)
c.1592C>T (p.Ser531Phe)
c.2312C>T (p.Ser771Phe)
c.2462C>T (p.Ser821Phe)
c.2435C>T (p.Ser812Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948524G>CCA369853887KCNH2n.3445C>G
c.2612C>G (p.Ser871Cys)
c.1592C>G (p.Ser531Cys)
c.2312C>G (p.Ser771Cys)
c.2462C>G (p.Ser821Cys)
c.2435C>G (p.Ser812Cys)
ClinVar dbSNP gnomAD v4
7g.150948524G=CA1752431510KCNH2n.3445C=
c.2612C= (p.Ser871=)
c.1592C= (p.Ser531=)
c.2312C= (p.Ser771=)
c.2462C= (p.Ser821=)
c.2435C= (p.Ser812=)
7g.150948524G>TCA369853889KCNH2n.3445C>A
c.2612C>A (p.Ser871Tyr)
c.1592C>A (p.Ser531Tyr)
c.2312C>A (p.Ser771Tyr)
c.2462C>A (p.Ser821Tyr)
c.2435C>A (p.Ser812Tyr)
7g.150948525A=CA1752431516KCNH2n.3444T=
c.2611T= (p.Ser871=)
c.1591T= (p.Ser531=)
c.2311T= (p.Ser771=)
c.2461T= (p.Ser821=)
c.2434T= (p.Ser812=)
7g.150948525A>CCA169073230KCNH2n.3444T>G
c.2611T>G (p.Ser871Ala)
c.1591T>G (p.Ser531Ala)
c.2311T>G (p.Ser771Ala)
c.2461T>G (p.Ser821Ala)
c.2434T>G (p.Ser812Ala)
dbSNP gnomAD v3 gnomAD v4
7g.150948525A>GCA369853892KCNH2n.3444T>C
c.2611T>C (p.Ser871Pro)
c.1591T>C (p.Ser531Pro)
c.2311T>C (p.Ser771Pro)
c.2461T>C (p.Ser821Pro)
c.2434T>C (p.Ser812Pro)
7g.150948525A>TCA369853894KCNH2n.3444T>A
c.2611T>A (p.Ser871Thr)
c.1591T>A (p.Ser531Thr)
c.2311T>A (p.Ser771Thr)
c.2461T>A (p.Ser821Thr)
c.2434T>A (p.Ser812Thr)
gnomAD v4
7g.150948526G>ACA458645030KCNH2n.3443C>T
c.2610C>T (p.Gly870=)
c.1590C>T (p.Gly530=)
c.2310C>T (p.Gly770=)
c.2460C>T (p.Gly820=)
c.2433C>T (p.Gly811=)
7g.150948526G>CCA458645031KCNH2n.3443C>G
c.2610C>G (p.Gly870=)
c.1590C>G (p.Gly530=)
c.2310C>G (p.Gly770=)
c.2460C>G (p.Gly820=)
c.2433C>G (p.Gly811=)
ClinVar dbSNP
7g.150948526G>TCA458645032KCNH2n.3443C>A
c.2610C>A (p.Gly870=)
c.1590C>A (p.Gly530=)
c.2310C>A (p.Gly770=)
c.2460C>A (p.Gly820=)
c.2433C>A (p.Gly811=)
7g.150948527C>ACA369853897KCNH2n.3442G>T
c.2609G>T (p.Gly870Val)
c.1589G>T (p.Gly530Val)
c.2309G>T (p.Gly770Val)
c.2459G>T (p.Gly820Val)
c.2432G>T (p.Gly811Val)
gnomAD v4
7g.150948527C>GCA369853898KCNH2n.3442G>C
c.2609G>C (p.Gly870Ala)
c.1589G>C (p.Gly530Ala)
c.2309G>C (p.Gly770Ala)
c.2459G>C (p.Gly820Ala)
c.2432G>C (p.Gly811Ala)
7g.150948527C>TCA369853901KCNH2n.3442G>A
c.2609G>A (p.Gly870Asp)
c.1589G>A (p.Gly530Asp)
c.2309G>A (p.Gly770Asp)
c.2459G>A (p.Gly820Asp)
c.2432G>A (p.Gly811Asp)
gnomAD v4
7g.150948529delCA2685600524KCNH2n.3442del
c.2609del (p.Gly870AlafsTer8)
c.1589del (p.Gly530AlafsTer8)
c.2309del (p.Gly770AlafsTer8)
c.2459del (p.Gly820AlafsTer8)
c.2432del (p.Gly811AlafsTer8)
gnomAD v4
7g.150948528C>ACA369853903KCNH2n.3441G>T
c.2608G>T (p.Gly870Cys)
c.1588G>T (p.Gly530Cys)
c.2308G>T (p.Gly770Cys)
c.2458G>T (p.Gly820Cys)
c.2431G>T (p.Gly811Cys)
COSMIC
7g.150948528C>GCA369853907KCNH2n.3441G>C
c.2608G>C (p.Gly870Arg)
c.1588G>C (p.Gly530Arg)
c.2308G>C (p.Gly770Arg)
c.2458G>C (p.Gly820Arg)
c.2431G>C (p.Gly811Arg)
7g.150948528C>TCA369853905KCNH2n.3441G>A
c.2608G>A (p.Gly870Ser)
c.1588G>A (p.Gly530Ser)
c.2308G>A (p.Gly770Ser)
c.2458G>A (p.Gly820Ser)
c.2431G>A (p.Gly811Ser)
ClinVar
7g.150948529C>ACA458645033KCNH2n.3440G>T
c.2607G>T (p.Pro869=)
c.1587G>T (p.Pro529=)
c.2307G>T (p.Pro769=)
c.2457G>T (p.Pro819=)
c.2430G>T (p.Pro810=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948529C=CA1752431517KCNH2n.3440G=
c.2607G= (p.Pro869=)
c.1587G= (p.Pro529=)
c.2307G= (p.Pro769=)
c.2457G= (p.Pro819=)
c.2430G= (p.Pro810=)
7g.150948529C>GCA458645034KCNH2n.3440G>C
c.2607G>C (p.Pro869=)
c.1587G>C (p.Pro529=)
c.2307G>C (p.Pro769=)
c.2457G>C (p.Pro819=)
c.2430G>C (p.Pro810=)
7g.150948529C>TCA007033KCNH2n.3440G>A
c.2607G>A (p.Pro869=)
c.1587G>A (p.Pro529=)
c.2307G>A (p.Pro769=)
c.2457G>A (p.Pro819=)
c.2430G>A (p.Pro810=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948530G>ACA007025KCNH2n.3439C>T
c.2606C>T (p.Pro869Leu)
c.1586C>T (p.Pro529Leu)
c.2306C>T (p.Pro769Leu)
c.2456C>T (p.Pro819Leu)
c.2429C>T (p.Pro810Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948530G>CCA369853911KCNH2n.3439C>G
c.2606C>G (p.Pro869Arg)
c.1586C>G (p.Pro529Arg)
c.2306C>G (p.Pro769Arg)
c.2456C>G (p.Pro819Arg)
c.2429C>G (p.Pro810Arg)
7g.150948530G=CA1752431520KCNH2n.3439C=
c.2606C= (p.Pro869=)
c.1586C= (p.Pro529=)
c.2306C= (p.Pro769=)
c.2456C= (p.Pro819=)
c.2429C= (p.Pro810=)
7g.150948530G>TCA369853912KCNH2n.3439C>A
c.2606C>A (p.Pro869Gln)
c.1586C>A (p.Pro529Gln)
c.2306C>A (p.Pro769Gln)
c.2456C>A (p.Pro819Gln)
c.2429C>A (p.Pro810Gln)
7g.150948531G>ACA369853914KCNH2n.3438C>T
c.2605C>T (p.Pro869Ser)
c.1585C>T (p.Pro529Ser)
c.2305C>T (p.Pro769Ser)
c.2455C>T (p.Pro819Ser)
c.2428C>T (p.Pro810Ser)
COSMIC COSMIC
7g.150948531G>CCA369853916KCNH2n.3438C>G
c.2605C>G (p.Pro869Ala)
c.1585C>G (p.Pro529Ala)
c.2305C>G (p.Pro769Ala)
c.2455C>G (p.Pro819Ala)
c.2428C>G (p.Pro810Ala)
7g.150948531G>TCA369853918KCNH2n.3438C>A
c.2605C>A (p.Pro869Thr)
c.1585C>A (p.Pro529Thr)
c.2305C>A (p.Pro769Thr)
c.2455C>A (p.Pro819Thr)
c.2428C>A (p.Pro810Thr)
7g.150948533_150948542delCA2695208822KCNH2n.3429_3438del
c.2596_2605del (p.Asn866ArgfsTer9)
c.1576_1585del (p.Asn526ArgfsTer9)
c.2296_2305del (p.Asn766ArgfsTer9)
c.2446_2455del (p.Asn816ArgfsTer9)
c.2419_2428del (p.Asn807ArgfsTer9)
7g.150948532G>ACA033422KCNH2n.3437C>T
c.2604C>T (p.Ile868=)
c.1584C>T (p.Ile528=)
c.2304C>T (p.Ile768=)
c.2454C>T (p.Ile818=)
c.2427C>T (p.Ile809=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948532G>CCA369853921KCNH2n.3437C>G
c.2604C>G (p.Ile868Met)
c.1584C>G (p.Ile528Met)
c.2304C>G (p.Ile768Met)
c.2454C>G (p.Ile818Met)
c.2427C>G (p.Ile809Met)
7g.150948532G=CA1752431523KCNH2n.3437C=
c.2604C= (p.Ile868=)
c.1584C= (p.Ile528=)
c.2304C= (p.Ile768=)
c.2454C= (p.Ile818=)
c.2427C= (p.Ile809=)
7g.150948532G>TCA458645038KCNH2n.3437C>A
c.2604C>A (p.Ile868=)
c.1584C>A (p.Ile528=)
c.2304C>A (p.Ile768=)
c.2454C>A (p.Ile818=)
c.2427C>A (p.Ile809=)
7g.150948533A>CCA369853923KCNH2n.3436T>G
c.2603T>G (p.Ile868Ser)
c.1583T>G (p.Ile528Ser)
c.2303T>G (p.Ile768Ser)
c.2453T>G (p.Ile818Ser)
c.2426T>G (p.Ile809Ser)
7g.150948533A>GCA369853925KCNH2n.3436T>C
c.2603T>C (p.Ile868Thr)
c.1583T>C (p.Ile528Thr)
c.2303T>C (p.Ile768Thr)
c.2453T>C (p.Ile818Thr)
c.2426T>C (p.Ile809Thr)
7g.150948533A>TCA369853927KCNH2n.3436T>A
c.2603T>A (p.Ile868Asn)
c.1583T>A (p.Ile528Asn)
c.2303T>A (p.Ile768Asn)
c.2453T>A (p.Ile818Asn)
c.2426T>A (p.Ile809Asn)
7g.150948534T>ACA369853933KCNH2n.3435A>T
c.2602A>T (p.Ile868Phe)
c.1582A>T (p.Ile528Phe)
c.2302A>T (p.Ile768Phe)
c.2452A>T (p.Ile818Phe)
c.2425A>T (p.Ile809Phe)
7g.150948534T>CCA369853929KCNH2n.3435A>G
c.2602A>G (p.Ile868Val)
c.1582A>G (p.Ile528Val)
c.2302A>G (p.Ile768Val)
c.2452A>G (p.Ile818Val)
c.2425A>G (p.Ile809Val)
7g.150948534T>GCA369853931KCNH2n.3435A>C
c.2602A>C (p.Ile868Leu)
c.1582A>C (p.Ile528Leu)
c.2302A>C (p.Ile768Leu)
c.2452A>C (p.Ile818Leu)
c.2425A>C (p.Ile809Leu)
7g.150948535C>ACA369853934KCNH2n.3434G>T
c.2601G>T (p.Met867Ile)
c.1581G>T (p.Met527Ile)
c.2301G>T (p.Met767Ile)
c.2451G>T (p.Met817Ile)
c.2424G>T (p.Met808Ile)
7g.150948535C>GCA369853936KCNH2n.3434G>C
c.2601G>C (p.Met867Ile)
c.1581G>C (p.Met527Ile)
c.2301G>C (p.Met767Ile)
c.2451G>C (p.Met817Ile)
c.2424G>C (p.Met808Ile)
7g.150948535C>TCA369853938KCNH2n.3434G>A
c.2601G>A (p.Met867Ile)
c.1581G>A (p.Met527Ile)
c.2301G>A (p.Met767Ile)
c.2451G>A (p.Met817Ile)
c.2424G>A (p.Met808Ile)
7g.150948536A=CA1752431529KCNH2n.3433T=
c.2600T= (p.Met867=)
c.1580T= (p.Met527=)
c.2300T= (p.Met767=)
c.2450T= (p.Met817=)
c.2423T= (p.Met808=)
7g.150948536A>CCA369853940KCNH2n.3433T>G
c.2600T>G (p.Met867Arg)
c.1580T>G (p.Met527Arg)
c.2300T>G (p.Met767Arg)
c.2450T>G (p.Met817Arg)
c.2423T>G (p.Met808Arg)
7g.150948536A>GCA033403KCNH2n.3433T>C
c.2600T>C (p.Met867Thr)
c.1580T>C (p.Met527Thr)
c.2300T>C (p.Met767Thr)
c.2450T>C (p.Met817Thr)
c.2423T>C (p.Met808Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948536A>TCA369853943KCNH2n.3433T>A
c.2600T>A (p.Met867Lys)
c.1580T>A (p.Met527Lys)
c.2300T>A (p.Met767Lys)
c.2450T>A (p.Met817Lys)
c.2423T>A (p.Met808Lys)
7g.150948537T>ACA369853945KCNH2n.3432A>T
c.2599A>T (p.Met867Leu)
c.1579A>T (p.Met527Leu)
c.2299A>T (p.Met767Leu)
c.2449A>T (p.Met817Leu)
c.2422A>T (p.Met808Leu)
7g.150948537T>CCA369853947KCNH2n.3432A>G
c.2599A>G (p.Met867Val)
c.1579A>G (p.Met527Val)
c.2299A>G (p.Met767Val)
c.2449A>G (p.Met817Val)
c.2422A>G (p.Met808Val)
7g.150948537T>GCA369853949KCNH2n.3432A>C
c.2599A>C (p.Met867Leu)
c.1579A>C (p.Met527Leu)
c.2299A>C (p.Met767Leu)
c.2449A>C (p.Met817Leu)
c.2422A>C (p.Met808Leu)
7g.150948539_150948541delCA2778425547KCNH2n.3430_3432del
c.2597_2599del (p.Asn866del)
c.1577_1579del (p.Asn526del)
c.2297_2299del (p.Asn766del)
c.2447_2449del (p.Asn816del)
c.2420_2422del (p.Asn807del)
7g.150948537_150948543delCA2695208823KCNH2n.3426_3432del
c.2593_2599del (p.Thr865Ter)
c.1573_1579del (p.Thr525Ter)
c.2293_2299del (p.Thr765Ter)
c.2443_2449del (p.Thr815Ter)
c.2416_2422del (p.Thr806Ter)
7g.150948538G>ACA169073238KCNH2n.3431C>T
c.2598C>T (p.Asn866=)
c.1578C>T (p.Asn526=)
c.2298C>T (p.Asn766=)
c.2448C>T (p.Asn816=)
c.2421C>T (p.Asn807=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948538G>CCA369853951KCNH2n.3431C>G
c.2598C>G (p.Asn866Lys)
c.1578C>G (p.Asn526Lys)
c.2298C>G (p.Asn766Lys)
c.2448C>G (p.Asn816Lys)
c.2421C>G (p.Asn807Lys)
7g.150948538G=CA1752431532KCNH2n.3431C=
c.2598C= (p.Asn866=)
c.1578C= (p.Asn526=)
c.2298C= (p.Asn766=)
c.2448C= (p.Asn816=)
c.2421C= (p.Asn807=)
7g.150948538G>TCA369853952KCNH2n.3431C>A
c.2598C>A (p.Asn866Lys)
c.1578C>A (p.Asn526Lys)
c.2298C>A (p.Asn766Lys)
c.2448C>A (p.Asn816Lys)
c.2421C>A (p.Asn807Lys)
7g.150948539T>ACA369853958KCNH2n.3430A>T
c.2597A>T (p.Asn866Ile)
c.1577A>T (p.Asn526Ile)
c.2297A>T (p.Asn766Ile)
c.2447A>T (p.Asn816Ile)
c.2420A>T (p.Asn807Ile)
dbSNP
7g.150948539T>CCA369853955KCNH2n.3430A>G
c.2597A>G (p.Asn866Ser)
c.1577A>G (p.Asn526Ser)
c.2297A>G (p.Asn766Ser)
c.2447A>G (p.Asn816Ser)
c.2420A>G (p.Asn807Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948539T>GCA369853957KCNH2n.3430A>C
c.2597A>C (p.Asn866Thr)
c.1577A>C (p.Asn526Thr)
c.2297A>C (p.Asn766Thr)
c.2447A>C (p.Asn816Thr)
c.2420A>C (p.Asn807Thr)
7g.150948539T=CA1752431537KCNH2n.3430A=
c.2597A= (p.Asn866=)
c.1577A= (p.Asn526=)
c.2297A= (p.Asn766=)
c.2447A= (p.Asn816=)
c.2420A= (p.Asn807=)
7g.150948540T>ACA369853961KCNH2n.3429A>T
c.2596A>T (p.Asn866Tyr)
c.1576A>T (p.Asn526Tyr)
c.2296A>T (p.Asn766Tyr)
c.2446A>T (p.Asn816Tyr)
c.2419A>T (p.Asn807Tyr)
7g.150948540T>CCA369853963KCNH2n.3429A>G
c.2596A>G (p.Asn866Asp)
c.1576A>G (p.Asn526Asp)
c.2296A>G (p.Asn766Asp)
c.2446A>G (p.Asn816Asp)
c.2419A>G (p.Asn807Asp)
7g.150948540T>GCA369853962KCNH2n.3429A>C
c.2596A>C (p.Asn866His)
c.1576A>C (p.Asn526His)
c.2296A>C (p.Asn766His)
c.2446A>C (p.Asn816His)
c.2419A>C (p.Asn807His)
7g.150948541G>ACA033385KCNH2n.3428C>T
c.2595C>T (p.Thr865=)
c.1575C>T (p.Thr525=)
c.2295C>T (p.Thr765=)
c.2445C>T (p.Thr815=)
c.2418C>T (p.Thr806=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948541G>CCA458645043KCNH2n.3428C>G
c.2595C>G (p.Thr865=)
c.1575C>G (p.Thr525=)
c.2295C>G (p.Thr765=)
c.2445C>G (p.Thr815=)
c.2418C>G (p.Thr806=)
ClinVar dbSNP
7g.150948541G=CA1752431540KCNH2n.3428C=
c.2595C= (p.Thr865=)
c.1575C= (p.Thr525=)
c.2295C= (p.Thr765=)
c.2445C= (p.Thr815=)
c.2418C= (p.Thr806=)
7g.150948541G>TCA458645041KCNH2n.3428C>A
c.2595C>A (p.Thr865=)
c.1575C>A (p.Thr525=)
c.2295C>A (p.Thr765=)
c.2445C>A (p.Thr815=)
c.2418C>A (p.Thr806=)
7g.150948542G>ACA369853966KCNH2n.3427C>T
c.2594C>T (p.Thr865Ile)
c.1574C>T (p.Thr525Ile)
c.2294C>T (p.Thr765Ile)
c.2444C>T (p.Thr815Ile)
c.2417C>T (p.Thr806Ile)
ClinVar dbSNP gnomAD v4
7g.150948542G>CCA033375KCNH2n.3427C>G
c.2594C>G (p.Thr865Ser)
c.1574C>G (p.Thr525Ser)
c.2294C>G (p.Thr765Ser)
c.2444C>G (p.Thr815Ser)
c.2417C>G (p.Thr806Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948542G=CA1752431546KCNH2n.3427C=
c.2594C= (p.Thr865=)
c.1574C= (p.Thr525=)
c.2294C= (p.Thr765=)
c.2444C= (p.Thr815=)
c.2417C= (p.Thr806=)
7g.150948542G>TCA369853968KCNH2n.3427C>A
c.2594C>A (p.Thr865Asn)
c.1574C>A (p.Thr525Asn)
c.2294C>A (p.Thr765Asn)
c.2444C>A (p.Thr815Asn)
c.2417C>A (p.Thr806Asn)
7g.150948543T>ACA369853970KCNH2n.3426A>T
c.2593A>T (p.Thr865Ser)
c.1573A>T (p.Thr525Ser)
c.2293A>T (p.Thr765Ser)
c.2443A>T (p.Thr815Ser)
c.2416A>T (p.Thr806Ser)
7g.150948543T>CCA369853972KCNH2n.3426A>G
c.2593A>G (p.Thr865Ala)
c.1573A>G (p.Thr525Ala)
c.2293A>G (p.Thr765Ala)
c.2443A>G (p.Thr815Ala)
c.2416A>G (p.Thr806Ala)
7g.150948543T>GCA369853974KCNH2n.3426A>C
c.2593A>C (p.Thr865Pro)
c.1573A>C (p.Thr525Pro)
c.2293A>C (p.Thr765Pro)
c.2443A>C (p.Thr815Pro)
c.2416A>C (p.Thr806Pro)
7g.150948544C>ACA369853976KCNH2n.3426-1G>T
c.2593-1G>T (n.2593-1G>T)
c.1573-1G>T (n.1573-1G>T)
c.2293-1G>T (n.2293-1G>T)
c.2443-1G>T (n.2443-1G>T)
c.2416-1G>T (n.2416-1G>T)
7g.150948544C>GCA369853977KCNH2n.3426-1G>C
c.2593-1G>C (n.2593-1G>C)
c.1573-1G>C (n.1573-1G>C)
c.2293-1G>C (n.2293-1G>C)
c.2443-1G>C (n.2443-1G>C)
c.2416-1G>C (n.2416-1G>C)
ClinVar
7g.150948544C>TCA369853979KCNH2n.3426-1G>A
c.2593-1G>A (n.2593-1G>A)
c.1573-1G>A (n.1573-1G>A)
c.2293-1G>A (n.2293-1G>A)
c.2443-1G>A (n.2443-1G>A)
c.2416-1G>A (n.2416-1G>A)
7g.150948545T>ACA369853981KCNH2n.3426-2A>T
c.2593-2A>T (n.2593-2A>T)
c.1573-2A>T (n.1573-2A>T)
c.2293-2A>T (n.2293-2A>T)
c.2443-2A>T (n.2443-2A>T)
c.2416-2A>T (n.2416-2A>T)
7g.150948545T>CCA369853983KCNH2n.3426-2A>G
c.2593-2A>G (n.2593-2A>G)
c.1573-2A>G (n.1573-2A>G)
c.2293-2A>G (n.2293-2A>G)
c.2443-2A>G (n.2443-2A>G)
c.2416-2A>G (n.2416-2A>G)
7g.150948545T>GCA369853985KCNH2n.3426-2A>C
c.2593-2A>C (n.2593-2A>C)
c.1573-2A>C (n.1573-2A>C)
c.2293-2A>C (n.2293-2A>C)
c.2443-2A>C (n.2443-2A>C)
c.2416-2A>C (n.2416-2A>C)
7g.150948547G>ACA1108705099KCNH2n.3426-4C>T
c.2593-4C>T (n.2593-4C>T)
c.1573-4C>T (n.1573-4C>T)
c.2293-4C>T (n.2293-4C>T)
c.2443-4C>T (n.2443-4C>T)
c.2416-4C>T (n.2416-4C>T)
dbSNP gnomAD v3 gnomAD v4
7g.150948547G=CA1752431549KCNH2n.3426-4C=
c.2593-4C= (n.2593-4C=)
c.1573-4C= (n.1573-4C=)
c.2293-4C= (n.2293-4C=)
c.2443-4C= (n.2443-4C=)
c.2416-4C= (n.2416-4C=)
7g.150948548_150948558delCA2580077782KCNH2n.3426-15_3426-5del
c.2593-15_2593-5del (n.2593-15_2593-5del)
c.1573-15_1573-5del (n.1573-15_1573-5del)
c.2293-15_2293-5del (n.2293-15_2293-5del)
c.2443-15_2443-5del (n.2443-15_2443-5del)
c.2416-15_2416-5del (n.2416-15_2416-5del)
ClinVar
7g.150948550C=CA1752431551KCNH2n.3426-7G=
c.2593-7G= (n.2593-7G=)
c.1573-7G= (n.1573-7G=)
c.2293-7G= (n.2293-7G=)
c.2443-7G= (n.2443-7G=)
c.2416-7G= (n.2416-7G=)
7g.150948550C>GCA2685600526KCNH2n.3426-7G>C
c.2593-7G>C (n.2593-7G>C)
c.1573-7G>C (n.1573-7G>C)
c.2293-7G>C (n.2293-7G>C)
c.2443-7G>C (n.2443-7G>C)
c.2416-7G>C (n.2416-7G>C)
gnomAD v4
7g.150948550C>TCA578701935KCNH2n.3426-7G>A
c.2593-7G>A (n.2593-7G>A)
c.1573-7G>A (n.1573-7G>A)
c.2293-7G>A (n.2293-7G>A)
c.2443-7G>A (n.2443-7G>A)
c.2416-7G>A (n.2416-7G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948551_150948552delinsCACA1752431553KCNH2n.3426-9_3426-8delinsTG
c.2593-9_2593-8delinsTG (n.2593-9_2593-8delinsTG)
c.1573-9_1573-8delinsTG (n.1573-9_1573-8delinsTG)
c.2293-9_2293-8delinsTG (n.2293-9_2293-8delinsTG)
c.2443-9_2443-8delinsTG (n.2443-9_2443-8delinsTG)
c.2416-9_2416-8delinsTG (n.2416-9_2416-8delinsTG)
7g.150948555delCA578701936KCNH2n.3426-9del
c.2593-9del (n.2593-9del)
c.1573-9del (n.1573-9del)
c.2293-9del (n.2293-9del)
c.2443-9del (n.2443-9del)
c.2416-9del (n.2416-9del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948555A=CA1752431557KCNH2n.3426-12T=
c.2593-12T= (n.2593-12T=)
c.1573-12T= (n.1573-12T=)
c.2293-12T= (n.2293-12T=)
c.2443-12T= (n.2443-12T=)
c.2416-12T= (n.2416-12T=)
7g.150948555A>TCA835223640KCNH2n.3426-12T>A
c.2593-12T>A (n.2593-12T>A)
c.1573-12T>A (n.1573-12T>A)
c.2293-12T>A (n.2293-12T>A)
c.2443-12T>A (n.2443-12T>A)
c.2416-12T>A (n.2416-12T>A)
dbSNP
7g.150948555_150948559delinsATCAGCA1752431556KCNH2n.3426-16_3426-12delinsCTGAT
c.2593-16_2593-12delinsCTGAT (n.2593-16_2593-12delinsCTGAT)
c.1573-16_1573-12delinsCTGAT (n.1573-16_1573-12delinsCTGAT)
c.2293-16_2293-12delinsCTGAT (n.2293-16_2293-12delinsCTGAT)
c.2443-16_2443-12delinsCTGAT (n.2443-16_2443-12delinsCTGAT)
c.2416-16_2416-12delinsCTGAT (n.2416-16_2416-12delinsCTGAT)
7g.150948557_150948560delCA033213KCNH2n.3426-16_3426-13del
c.2593-16_2593-13del (n.2593-16_2593-13del)
c.1573-16_1573-13del (n.1573-16_1573-13del)
c.2293-16_2293-13del (n.2293-16_2293-13del)
c.2443-16_2443-13del (n.2443-16_2443-13del)
c.2416-16_2416-13del (n.2416-16_2416-13del)
dbSNP ExAC gnomAD v2
7g.150948558A=CA1752431561KCNH2n.3426-15T=
c.2593-15T= (n.2593-15T=)
c.1573-15T= (n.1573-15T=)
c.2293-15T= (n.2293-15T=)
c.2443-15T= (n.2443-15T=)
c.2416-15T= (n.2416-15T=)
7g.150948558A>GCA1108705103KCNH2n.3426-15T>C
c.2593-15T>C (n.2593-15T>C)
c.1573-15T>C (n.1573-15T>C)
c.2293-15T>C (n.2293-15T>C)
c.2443-15T>C (n.2443-15T>C)
c.2416-15T>C (n.2416-15T>C)
dbSNP gnomAD v3 gnomAD v4
7g.150948559G>ACA2499218793KCNH2n.3426-16C>T
c.2593-16C>T (n.2593-16C>T)
c.1573-16C>T (n.1573-16C>T)
c.2293-16C>T (n.2293-16C>T)
c.2443-16C>T (n.2443-16C>T)
c.2416-16C>T (n.2416-16C>T)
ClinVar dbSNP
7g.150948559G>CCA2685600527KCNH2n.3426-16C>G
c.2593-16C>G (n.2593-16C>G)
c.1573-16C>G (n.1573-16C>G)
c.2293-16C>G (n.2293-16C>G)
c.2443-16C>G (n.2443-16C>G)
c.2416-16C>G (n.2416-16C>G)
gnomAD v4
7g.150948559G=CA1752431562KCNH2n.3426-16C=
c.2593-16C= (n.2593-16C=)
c.1573-16C= (n.1573-16C=)
c.2293-16C= (n.2293-16C=)
c.2443-16C= (n.2443-16C=)
c.2416-16C= (n.2416-16C=)
7g.150948559G>TCA033225KCNH2n.3426-16C>A
c.2593-16C>A (n.2593-16C>A)
c.1573-16C>A (n.1573-16C>A)
c.2293-16C>A (n.2293-16C>A)
c.2443-16C>A (n.2443-16C>A)
c.2416-16C>A (n.2416-16C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948560T>CCA2685600528KCNH2n.3426-17A>G
c.2593-17A>G (n.2593-17A>G)
c.1573-17A>G (n.1573-17A>G)
c.2293-17A>G (n.2293-17A>G)
c.2443-17A>G (n.2443-17A>G)
c.2416-17A>G (n.2416-17A>G)
ClinVar gnomAD v4
7g.150948560_150948561insTTCA2580077783KCNH2n.3426-17_3426-16insAA
c.2593-17_2593-16insAA (n.2593-17_2593-16insAA)
c.1573-17_1573-16insAA (n.1573-17_1573-16insAA)
c.2293-17_2293-16insAA (n.2293-17_2293-16insAA)
c.2443-17_2443-16insAA (n.2443-17_2443-16insAA)
c.2416-17_2416-16insAA (n.2416-17_2416-16insAA)
ClinVar
7g.150948563C>TCA2740901104KCNH2n.3426-20G>A
c.2593-20G>A (n.2593-20G>A)
c.1573-20G>A (n.1573-20G>A)
c.2293-20G>A (n.2293-20G>A)
c.2443-20G>A (n.2443-20G>A)
c.2416-20G>A (n.2416-20G>A)
7g.150948564A=CA1752431564KCNH2n.3426-21T=
c.2593-21T= (n.2593-21T=)
c.1573-21T= (n.1573-21T=)
c.2293-21T= (n.2293-21T=)
c.2443-21T= (n.2443-21T=)
c.2416-21T= (n.2416-21T=)
7g.150948564A>CCA2685600529KCNH2n.3426-21T>G
c.2593-21T>G (n.2593-21T>G)
c.1573-21T>G (n.1573-21T>G)
c.2293-21T>G (n.2293-21T>G)
c.2443-21T>G (n.2443-21T>G)
c.2416-21T>G (n.2416-21T>G)
gnomAD v4
7g.150948564A>GCA033235KCNH2n.3426-21T>C
c.2593-21T>C (n.2593-21T>C)
c.1573-21T>C (n.1573-21T>C)
c.2293-21T>C (n.2293-21T>C)
c.2443-21T>C (n.2443-21T>C)
c.2416-21T>C (n.2416-21T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948565G>ACA1752431566KCNH2n.3426-22C>T
c.2593-22C>T (n.2593-22C>T)
c.1573-22C>T (n.1573-22C>T)
c.2293-22C>T (n.2293-22C>T)
c.2443-22C>T (n.2443-22C>T)
c.2416-22C>T (n.2416-22C>T)
dbSNP gnomAD v4
7g.150948565G=CA1752431567KCNH2n.3426-22C=
c.2593-22C= (n.2593-22C=)
c.1573-22C= (n.1573-22C=)
c.2293-22C= (n.2293-22C=)
c.2443-22C= (n.2443-22C=)
c.2416-22C= (n.2416-22C=)
7g.150948565G>TCA2685600530KCNH2n.3426-22C>A
c.2593-22C>A (n.2593-22C>A)
c.1573-22C>A (n.1573-22C>A)
c.2293-22C>A (n.2293-22C>A)
c.2443-22C>A (n.2443-22C>A)
c.2416-22C>A (n.2416-22C>A)
gnomAD v4
7g.150948566G>ACA2685600531KCNH2n.3426-23C>T
c.2593-23C>T (n.2593-23C>T)
c.1573-23C>T (n.1573-23C>T)
c.2293-23C>T (n.2293-23C>T)
c.2443-23C>T (n.2443-23C>T)
c.2416-23C>T (n.2416-23C>T)
gnomAD v4
7g.150948566G>CCA2685600533KCNH2n.3426-23C>G
c.2593-23C>G (n.2593-23C>G)
c.1573-23C>G (n.1573-23C>G)
c.2293-23C>G (n.2293-23C>G)
c.2443-23C>G (n.2443-23C>G)
c.2416-23C>G (n.2416-23C>G)
gnomAD v4
7g.150948566G>TCA2685600532KCNH2n.3426-23C>A
c.2593-23C>A (n.2593-23C>A)
c.1573-23C>A (n.1573-23C>A)
c.2293-23C>A (n.2293-23C>A)
c.2443-23C>A (n.2443-23C>A)
c.2416-23C>A (n.2416-23C>A)
gnomAD v4
7g.150948567G>ACA2579062632KCNH2n.3426-24C>T
c.2593-24C>T (n.2593-24C>T)
c.1573-24C>T (n.1573-24C>T)
c.2293-24C>T (n.2293-24C>T)
c.2443-24C>T (n.2443-24C>T)
c.2416-24C>T (n.2416-24C>T)
gnomAD v4
7g.150948567G>TCA2685600534KCNH2n.3426-24C>A
c.2593-24C>A (n.2593-24C>A)
c.1573-24C>A (n.1573-24C>A)
c.2293-24C>A (n.2293-24C>A)
c.2443-24C>A (n.2443-24C>A)
c.2416-24C>A (n.2416-24C>A)
gnomAD v4
7g.150948568C>ACA033245KCNH2n.3426-25G>T
c.2593-25G>T (n.2593-25G>T)
c.1573-25G>T (n.1573-25G>T)
c.2293-25G>T (n.2293-25G>T)
c.2443-25G>T (n.2443-25G>T)
c.2416-25G>T (n.2416-25G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948568C=CA1752431568KCNH2n.3426-25G=
c.2593-25G= (n.2593-25G=)
c.1573-25G= (n.1573-25G=)
c.2293-25G= (n.2293-25G=)
c.2443-25G= (n.2443-25G=)
c.2416-25G= (n.2416-25G=)
7g.150948568C>TCA2685600535KCNH2n.3426-25G>A
c.2593-25G>A (n.2593-25G>A)
c.1573-25G>A (n.1573-25G>A)
c.2293-25G>A (n.2293-25G>A)
c.2443-25G>A (n.2443-25G>A)
c.2416-25G>A (n.2416-25G>A)
gnomAD v4
7g.150948569C>ACA2579062633KCNH2n.3426-26G>T
c.2593-26G>T (n.2593-26G>T)
c.1573-26G>T (n.1573-26G>T)
c.2293-26G>T (n.2293-26G>T)
c.2443-26G>T (n.2443-26G>T)
c.2416-26G>T (n.2416-26G>T)
7g.150948570C=CA1752431570KCNH2n.3426-27G=
c.2593-27G= (n.2593-27G=)
c.1573-27G= (n.1573-27G=)
c.2293-27G= (n.2293-27G=)
c.2443-27G= (n.2443-27G=)
c.2416-27G= (n.2416-27G=)
7g.150948570C>TCA169073260KCNH2n.3426-27G>A
c.2593-27G>A (n.2593-27G>A)
c.1573-27G>A (n.1573-27G>A)
c.2293-27G>A (n.2293-27G>A)
c.2443-27G>A (n.2443-27G>A)
c.2416-27G>A (n.2416-27G>A)
dbSNP
7g.150948571T>CCA2685600537KCNH2n.3426-28A>G
c.2593-28A>G (n.2593-28A>G)
c.1573-28A>G (n.1573-28A>G)
c.2293-28A>G (n.2293-28A>G)
c.2443-28A>G (n.2443-28A>G)
c.2416-28A>G (n.2416-28A>G)
gnomAD v4
7g.150948571T>GCA2685600538KCNH2n.3426-28A>C
c.2593-28A>C (n.2593-28A>C)
c.1573-28A>C (n.1573-28A>C)
c.2293-28A>C (n.2293-28A>C)
c.2443-28A>C (n.2443-28A>C)
c.2416-28A>C (n.2416-28A>C)
gnomAD v4
7g.150948573delCA2685600536KCNH2n.3426-28del
c.2593-28del (n.2593-28del)
c.1573-28del (n.1573-28del)
c.2293-28del (n.2293-28del)
c.2443-28del (n.2443-28del)
c.2416-28del (n.2416-28del)
gnomAD v4
7g.150948572T>CCA2685600539KCNH2n.3426-29A>G
c.2593-29A>G (n.2593-29A>G)
c.1573-29A>G (n.1573-29A>G)
c.2293-29A>G (n.2293-29A>G)
c.2443-29A>G (n.2443-29A>G)
c.2416-29A>G (n.2416-29A>G)
gnomAD v4
7g.150948572T>GCA2579062634KCNH2n.3426-29A>C
c.2593-29A>C (n.2593-29A>C)
c.1573-29A>C (n.1573-29A>C)
c.2293-29A>C (n.2293-29A>C)
c.2443-29A>C (n.2443-29A>C)
c.2416-29A>C (n.2416-29A>C)
gnomAD v4
7g.150948573T>GCA2685600540KCNH2n.3426-30A>C
c.2593-30A>C (n.2593-30A>C)
c.1573-30A>C (n.1573-30A>C)
c.2293-30A>C (n.2293-30A>C)
c.2443-30A>C (n.2443-30A>C)
c.2416-30A>C (n.2416-30A>C)
gnomAD v4
7g.150948574C>ACA2512805282KCNH2n.3426-31G>T
c.2593-31G>T (n.2593-31G>T)
c.1573-31G>T (n.1573-31G>T)
c.2293-31G>T (n.2293-31G>T)
c.2443-31G>T (n.2443-31G>T)
c.2416-31G>T (n.2416-31G>T)
7g.150948574C>TCA2685600541KCNH2n.3426-31G>A
c.2593-31G>A (n.2593-31G>A)
c.1573-31G>A (n.1573-31G>A)
c.2293-31G>A (n.2293-31G>A)
c.2443-31G>A (n.2443-31G>A)
c.2416-31G>A (n.2416-31G>A)
gnomAD v4
7g.150948575A=CA1752431572KCNH2n.3426-32T=
c.2593-32T= (n.2593-32T=)
c.1573-32T= (n.1573-32T=)
c.2293-32T= (n.2293-32T=)
c.2443-32T= (n.2443-32T=)
c.2416-32T= (n.2416-32T=)
7g.150948575A>GCA2716102282KCNH2n.3426-32T>C
c.2593-32T>C (n.2593-32T>C)
c.1573-32T>C (n.1573-32T>C)
c.2293-32T>C (n.2293-32T>C)
c.2443-32T>C (n.2443-32T>C)
c.2416-32T>C (n.2416-32T>C)
dbSNP
7g.150948575A>TCA1752431573KCNH2n.3426-32T>A
c.2593-32T>A (n.2593-32T>A)
c.1573-32T>A (n.1573-32T>A)
c.2293-32T>A (n.2293-32T>A)
c.2443-32T>A (n.2443-32T>A)
c.2416-32T>A (n.2416-32T>A)
dbSNP
7g.150948576G>CCA033271KCNH2n.3426-33C>G
c.2593-33C>G (n.2593-33C>G)
c.1573-33C>G (n.1573-33C>G)
c.2293-33C>G (n.2293-33C>G)
c.2443-33C>G (n.2443-33C>G)
c.2416-33C>G (n.2416-33C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948576G=CA1752431574KCNH2n.3426-33C=
c.2593-33C= (n.2593-33C=)
c.1573-33C= (n.1573-33C=)
c.2293-33C= (n.2293-33C=)
c.2443-33C= (n.2443-33C=)
c.2416-33C= (n.2416-33C=)
7g.150948576G>TCA2685600542KCNH2n.3426-33C>A
c.2593-33C>A (n.2593-33C>A)
c.1573-33C>A (n.1573-33C>A)
c.2293-33C>A (n.2293-33C>A)
c.2443-33C>A (n.2443-33C>A)
c.2416-33C>A (n.2416-33C>A)
gnomAD v4
7g.150948577T>CCA2685600543KCNH2n.3426-34A>G
c.2593-34A>G (n.2593-34A>G)
c.1573-34A>G (n.1573-34A>G)
c.2293-34A>G (n.2293-34A>G)
c.2443-34A>G (n.2443-34A>G)
c.2416-34A>G (n.2416-34A>G)
gnomAD v4
7g.150948578G>ACA2685600544KCNH2n.3426-35C>T
c.2593-35C>T (n.2593-35C>T)
c.1573-35C>T (n.1573-35C>T)
c.2293-35C>T (n.2293-35C>T)
c.2443-35C>T (n.2443-35C>T)
c.2416-35C>T (n.2416-35C>T)
gnomAD v4
7g.150948578G>TCA2685600545KCNH2n.3426-35C>A
c.2593-35C>A (n.2593-35C>A)
c.1573-35C>A (n.1573-35C>A)
c.2293-35C>A (n.2293-35C>A)
c.2443-35C>A (n.2443-35C>A)
c.2416-35C>A (n.2416-35C>A)
gnomAD v4
7g.150948579C>TCA2685600546KCNH2n.3426-36G>A
c.2593-36G>A (n.2593-36G>A)
c.1573-36G>A (n.1573-36G>A)
c.2293-36G>A (n.2293-36G>A)
c.2443-36G>A (n.2443-36G>A)
c.2416-36G>A (n.2416-36G>A)
gnomAD v4
7g.150948581C>ACA458645046KCNH2n.3426-38G>T
c.2593-38G>T (n.2593-38G>T)
c.1573-38G>T (n.1573-38G>T)
c.2293-38G>T (n.2293-38G>T)
c.2443-38G>T (n.2443-38G>T)
c.2416-38G>T (n.2416-38G>T)
7g.150948581C>GCA2579062635KCNH2n.3426-38G>C
c.2593-38G>C (n.2593-38G>C)
c.1573-38G>C (n.1573-38G>C)
c.2293-38G>C (n.2293-38G>C)
c.2443-38G>C (n.2443-38G>C)
c.2416-38G>C (n.2416-38G>C)
7g.150948581C>TCA2685600547KCNH2n.3426-38G>A
c.2593-38G>A (n.2593-38G>A)
c.1573-38G>A (n.1573-38G>A)
c.2293-38G>A (n.2293-38G>A)
c.2443-38G>A (n.2443-38G>A)
c.2416-38G>A (n.2416-38G>A)
gnomAD v4
7g.150948584C>ACA2685600548KCNH2n.3426-41G>T
c.2593-41G>T (n.2593-41G>T)
c.1573-41G>T (n.1573-41G>T)
c.2293-41G>T (n.2293-41G>T)
c.2443-41G>T (n.2443-41G>T)
c.2416-41G>T (n.2416-41G>T)
gnomAD v4
7g.150948584C=CA1752431575KCNH2n.3426-41G=
c.2593-41G= (n.2593-41G=)
c.1573-41G= (n.1573-41G=)
c.2293-41G= (n.2293-41G=)
c.2443-41G= (n.2443-41G=)
c.2416-41G= (n.2416-41G=)
7g.150948584C>TCA578701938KCNH2n.3426-41G>A
c.2593-41G>A (n.2593-41G>A)
c.1573-41G>A (n.1573-41G>A)
c.2293-41G>A (n.2293-41G>A)
c.2443-41G>A (n.2443-41G>A)
c.2416-41G>A (n.2416-41G>A)
dbSNP gnomAD v2 gnomAD v4
7g.150948585T>CCA2685600549KCNH2n.3426-42A>G
c.2593-42A>G (n.2593-42A>G)
c.1573-42A>G (n.1573-42A>G)
c.2293-42A>G (n.2293-42A>G)
c.2443-42A>G (n.2443-42A>G)
c.2416-42A>G (n.2416-42A>G)
gnomAD v4
7g.150948585T>GCA578701939KCNH2n.3426-42A>C
c.2593-42A>C (n.2593-42A>C)
c.1573-42A>C (n.1573-42A>C)
c.2293-42A>C (n.2293-42A>C)
c.2443-42A>C (n.2443-42A>C)
c.2416-42A>C (n.2416-42A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948585T=CA1752431576KCNH2n.3426-42A=
c.2593-42A= (n.2593-42A=)
c.1573-42A= (n.1573-42A=)
c.2293-42A= (n.2293-42A=)
c.2443-42A= (n.2443-42A=)
c.2416-42A= (n.2416-42A=)
7g.150948586G>ACA2685600550KCNH2n.3426-43C>T
c.2593-43C>T (n.2593-43C>T)
c.1573-43C>T (n.1573-43C>T)
c.2293-43C>T (n.2293-43C>T)
c.2443-43C>T (n.2443-43C>T)
c.2416-43C>T (n.2416-43C>T)
gnomAD v4
7g.150948586G>TCA2685600551KCNH2n.3426-43C>A
c.2593-43C>A (n.2593-43C>A)
c.1573-43C>A (n.1573-43C>A)
c.2293-43C>A (n.2293-43C>A)
c.2443-43C>A (n.2443-43C>A)
c.2416-43C>A (n.2416-43C>A)
gnomAD v4
7g.150948586_150948587insACA2685600555KCNH2n.3426-44_3426-43insT
c.2593-44_2593-43insT (n.2593-44_2593-43insT)
c.1573-44_1573-43insT (n.1573-44_1573-43insT)
c.2293-44_2293-43insT (n.2293-44_2293-43insT)
c.2443-44_2443-43insT (n.2443-44_2443-43insT)
c.2416-44_2416-43insT (n.2416-44_2416-43insT)
gnomAD v4
7g.150948587C>ACA2685600552KCNH2n.3426-44G>T
c.2593-44G>T (n.2593-44G>T)
c.1573-44G>T (n.1573-44G>T)
c.2293-44G>T (n.2293-44G>T)
c.2443-44G>T (n.2443-44G>T)
c.2416-44G>T (n.2416-44G>T)
gnomAD v4
7g.150948587C>TCA2579062636KCNH2n.3426-44G>A
c.2593-44G>A (n.2593-44G>A)
c.1573-44G>A (n.1573-44G>A)
c.2293-44G>A (n.2293-44G>A)
c.2443-44G>A (n.2443-44G>A)
c.2416-44G>A (n.2416-44G>A)
gnomAD v4
7g.150948587_150948590delCA2685600556KCNH2n.3426-47_3426-44del
c.2593-47_2593-44del (n.2593-47_2593-44del)
c.1573-47_1573-44del (n.1573-47_1573-44del)
c.2293-47_2293-44del (n.2293-47_2293-44del)
c.2443-47_2443-44del (n.2443-47_2443-44del)
c.2416-47_2416-44del (n.2416-47_2416-44del)
gnomAD v4
7g.150948590delCA2685600554KCNH2n.3426-44del
c.2593-44del (n.2593-44del)
c.1573-44del (n.1573-44del)
c.2293-44del (n.2293-44del)
c.2443-44del (n.2443-44del)
c.2416-44del (n.2416-44del)
gnomAD v4
7g.150948588C>ACA033308KCNH2n.3426-45G>T
c.2593-45G>T (n.2593-45G>T)
c.1573-45G>T (n.1573-45G>T)
c.2293-45G>T (n.2293-45G>T)
c.2443-45G>T (n.2443-45G>T)
c.2416-45G>T (n.2416-45G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948588C=CA1752431580KCNH2n.3426-45G=
c.2593-45G= (n.2593-45G=)
c.1573-45G= (n.1573-45G=)
c.2293-45G= (n.2293-45G=)
c.2443-45G= (n.2443-45G=)
c.2416-45G= (n.2416-45G=)
7g.150948588C>TCA033286KCNH2n.3426-45G>A
c.2593-45G>A (n.2593-45G>A)
c.1573-45G>A (n.1573-45G>A)
c.2293-45G>A (n.2293-45G>A)
c.2443-45G>A (n.2443-45G>A)
c.2416-45G>A (n.2416-45G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948589C>ACA2685600557KCNH2n.3426-46G>T
c.2593-46G>T (n.2593-46G>T)
c.1573-46G>T (n.1573-46G>T)
c.2293-46G>T (n.2293-46G>T)
c.2443-46G>T (n.2443-46G>T)
c.2416-46G>T (n.2416-46G>T)
gnomAD v4
7g.150948589C>TCA2685600558KCNH2n.3426-46G>A
c.2593-46G>A (n.2593-46G>A)
c.1573-46G>A (n.1573-46G>A)
c.2293-46G>A (n.2293-46G>A)
c.2443-46G>A (n.2443-46G>A)
c.2416-46G>A (n.2416-46G>A)
gnomAD v4
7g.150948590C>ACA2507622955KCNH2n.3426-47G>T
c.2593-47G>T (n.2593-47G>T)
c.1573-47G>T (n.1573-47G>T)
c.2293-47G>T (n.2293-47G>T)
c.2443-47G>T (n.2443-47G>T)
c.2416-47G>T (n.2416-47G>T)
gnomAD v4
7g.150948590C>TCA2716180744KCNH2n.3426-47G>A
c.2593-47G>A (n.2593-47G>A)
c.1573-47G>A (n.1573-47G>A)
c.2293-47G>A (n.2293-47G>A)
c.2443-47G>A (n.2443-47G>A)
c.2416-47G>A (n.2416-47G>A)
dbSNP
7g.150948590_150948591insGGTGGGGCAGGAGCA2685600559KCNH2n.3426-48_3426-47insCTCCTGCCCCACC
c.2593-48_2593-47insCTCCTGCCCCACC (n.2593-48_2593-47insCTCCTGCCCCACC)
c.1573-48_1573-47insCTCCTGCCCCACC (n.1573-48_1573-47insCTCCTGCCCCACC)
c.2293-48_2293-47insCTCCTGCCCCACC (n.2293-48_2293-47insCTCCTGCCCCACC)
c.2443-48_2443-47insCTCCTGCCCCACC (n.2443-48_2443-47insCTCCTGCCCCACC)
c.2416-48_2416-47insCTCCTGCCCCACC (n.2416-48_2416-47insCTCCTGCCCCACC)
gnomAD v4
7g.150948590_150948591insTGGTGGGGCAGGAGCA2685600560KCNH2n.3426-48_3426-47insCTCCTGCCCCACCA
c.2593-48_2593-47insCTCCTGCCCCACCA (n.2593-48_2593-47insCTCCTGCCCCACCA)
c.1573-48_1573-47insCTCCTGCCCCACCA (n.1573-48_1573-47insCTCCTGCCCCACCA)
c.2293-48_2293-47insCTCCTGCCCCACCA (n.2293-48_2293-47insCTCCTGCCCCACCA)
c.2443-48_2443-47insCTCCTGCCCCACCA (n.2443-48_2443-47insCTCCTGCCCCACCA)
c.2416-48_2416-47insCTCCTGCCCCACCA (n.2416-48_2416-47insCTCCTGCCCCACCA)
gnomAD v4
7g.150948592C>ACA1752431584KCNH2n.3426-49G>T
c.2593-49G>T (n.2593-49G>T)
c.1573-49G>T (n.1573-49G>T)
c.2293-49G>T (n.2293-49G>T)
c.2443-49G>T (n.2443-49G>T)
c.2416-49G>T (n.2416-49G>T)
dbSNP
7g.150948592C=CA1752431583KCNH2n.3426-49G=
c.2593-49G= (n.2593-49G=)
c.1573-49G= (n.1573-49G=)
c.2293-49G= (n.2293-49G=)
c.2443-49G= (n.2443-49G=)
c.2416-49G= (n.2416-49G=)
7g.150948593C=CA1752431585KCNH2n.3426-50G=
c.2593-50G= (n.2593-50G=)
c.1573-50G= (n.1573-50G=)
c.2293-50G= (n.2293-50G=)
c.2443-50G= (n.2443-50G=)
c.2416-50G= (n.2416-50G=)
7g.150948593C>GCA033339KCNH2n.3426-50G>C
c.2593-50G>C (n.2593-50G>C)
c.1573-50G>C (n.1573-50G>C)
c.2293-50G>C (n.2293-50G>C)
c.2443-50G>C (n.2443-50G>C)
c.2416-50G>C (n.2416-50G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948593C>TCA2685600561KCNH2n.3426-50G>A
c.2593-50G>A (n.2593-50G>A)
c.1573-50G>A (n.1573-50G>A)
c.2293-50G>A (n.2293-50G>A)
c.2443-50G>A (n.2443-50G>A)
c.2416-50G>A (n.2416-50G>A)
gnomAD v4
7g.150948593_150948594insCTGGTCA2685600562KCNH2n.3426-51_3426-50insACCAG
c.2593-51_2593-50insACCAG (n.2593-51_2593-50insACCAG)
c.1573-51_1573-50insACCAG (n.1573-51_1573-50insACCAG)
c.2293-51_2293-50insACCAG (n.2293-51_2293-50insACCAG)
c.2443-51_2443-50insACCAG (n.2443-51_2443-50insACCAG)
c.2416-51_2416-50insACCAG (n.2416-51_2416-50insACCAG)
gnomAD v4
7g.150948594G>ACA033350KCNH2n.3426-51C>T
c.2593-51C>T (n.2593-51C>T)
c.1573-51C>T (n.1573-51C>T)
c.2293-51C>T (n.2293-51C>T)
c.2443-51C>T (n.2443-51C>T)
c.2416-51C>T (n.2416-51C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948594G>CCA2580753238KCNH2n.3426-51C>G
c.2593-51C>G (n.2593-51C>G)
c.1573-51C>G (n.1573-51C>G)
c.2293-51C>G (n.2293-51C>G)
c.2443-51C>G (n.2443-51C>G)
c.2416-51C>G (n.2416-51C>G)
gnomAD v4
7g.150948594G=CA1752431586KCNH2n.3426-51C=
c.2593-51C= (n.2593-51C=)
c.1573-51C= (n.1573-51C=)
c.2293-51C= (n.2293-51C=)
c.2443-51C= (n.2443-51C=)
c.2416-51C= (n.2416-51C=)
7g.150948594G>TCA2580753237KCNH2n.3426-51C>A
c.2593-51C>A (n.2593-51C>A)
c.1573-51C>A (n.1573-51C>A)
c.2293-51C>A (n.2293-51C>A)
c.2443-51C>A (n.2443-51C>A)
c.2416-51C>A (n.2416-51C>A)
7g.150948595G>ACA579075358KCNH2n.3426-52C>T
c.2593-52C>T (n.2593-52C>T)
c.1573-52C>T (n.1573-52C>T)
c.2293-52C>T (n.2293-52C>T)
c.2443-52C>T (n.2443-52C>T)
c.2416-52C>T (n.2416-52C>T)
dbSNP gnomAD v2 gnomAD v4
7g.150948595G>CCA033362KCNH2n.3426-52C>G
c.2593-52C>G (n.2593-52C>G)
c.1573-52C>G (n.1573-52C>G)
c.2293-52C>G (n.2293-52C>G)
c.2443-52C>G (n.2443-52C>G)
c.2416-52C>G (n.2416-52C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948595G=CA1752431588KCNH2n.3426-52C=
c.2593-52C= (n.2593-52C=)
c.1573-52C= (n.1573-52C=)
c.2293-52C= (n.2293-52C=)
c.2443-52C= (n.2443-52C=)
c.2416-52C= (n.2416-52C=)
7g.150948595G>TCA2579062637KCNH2n.3426-52C>A
c.2593-52C>A (n.2593-52C>A)
c.1573-52C>A (n.1573-52C>A)
c.2293-52C>A (n.2293-52C>A)
c.2443-52C>A (n.2443-52C>A)
c.2416-52C>A (n.2416-52C>A)
gnomAD v4
7g.150948595_150948596insTGCA2685600563KCNH2n.3426-52_3426-51insAC
c.2593-52_2593-51insAC (n.2593-52_2593-51insAC)
c.1573-52_1573-51insAC (n.1573-52_1573-51insAC)
c.2293-52_2293-51insAC (n.2293-52_2293-51insAC)
c.2443-52_2443-51insAC (n.2443-52_2443-51insAC)
c.2416-52_2416-51insAC (n.2416-52_2416-51insAC)
gnomAD v4
7g.150948596G>ACA2685600564KCNH2n.3426-53C>T
c.2593-53C>T (n.2593-53C>T)
c.1573-53C>T (n.1573-53C>T)
c.2293-53C>T (n.2293-53C>T)
c.2443-53C>T (n.2443-53C>T)
c.2416-53C>T (n.2416-53C>T)
gnomAD v4
7g.150948596G>CCA1752431589KCNH2n.3426-53C>G
c.2593-53C>G (n.2593-53C>G)
c.1573-53C>G (n.1573-53C>G)
c.2293-53C>G (n.2293-53C>G)
c.2443-53C>G (n.2443-53C>G)
c.2416-53C>G (n.2416-53C>G)
dbSNP gnomAD v4
7g.150948596G=CA1752431590KCNH2n.3426-53C=
c.2593-53C= (n.2593-53C=)
c.1573-53C= (n.1573-53C=)
c.2293-53C= (n.2293-53C=)
c.2443-53C= (n.2443-53C=)
c.2416-53C= (n.2416-53C=)
7g.150948596G>TCA2685600565KCNH2n.3426-53C>A
c.2593-53C>A (n.2593-53C>A)
c.1573-53C>A (n.1573-53C>A)
c.2293-53C>A (n.2293-53C>A)
c.2443-53C>A (n.2443-53C>A)
c.2416-53C>A (n.2416-53C>A)
gnomAD v4
7g.150948597G>TCA2685600566KCNH2n.3426-54C>A
c.2593-54C>A (n.2593-54C>A)
c.1573-54C>A (n.1573-54C>A)
c.2293-54C>A (n.2293-54C>A)
c.2443-54C>A (n.2443-54C>A)
c.2416-54C>A (n.2416-54C>A)
gnomAD v4
7g.150948597_150948598delinsGTCA1752431591KCNH2n.3426-55_3426-54delinsAC
c.2593-55_2593-54delinsAC (n.2593-55_2593-54delinsAC)
c.1573-55_1573-54delinsAC (n.1573-55_1573-54delinsAC)
c.2293-55_2293-54delinsAC (n.2293-55_2293-54delinsAC)
c.2443-55_2443-54delinsAC (n.2443-55_2443-54delinsAC)
c.2416-55_2416-54delinsAC (n.2416-55_2416-54delinsAC)
7g.150948598delCA1752431594KCNH2n.3426-55del
c.2593-55del (n.2593-55del)
c.1573-55del (n.1573-55del)
c.2293-55del (n.2293-55del)
c.2443-55del (n.2443-55del)
c.2416-55del (n.2416-55del)
dbSNP gnomAD v4
7g.150948598T>ACA835223669KCNH2n.3426-55A>T
c.2593-55A>T (n.2593-55A>T)
c.1573-55A>T (n.1573-55A>T)
c.2293-55A>T (n.2293-55A>T)
c.2443-55A>T (n.2443-55A>T)
c.2416-55A>T (n.2416-55A>T)
dbSNP gnomAD v3 gnomAD v4
7g.150948598T>CCA835223671KCNH2n.3426-55A>G
c.2593-55A>G (n.2593-55A>G)
c.1573-55A>G (n.1573-55A>G)
c.2293-55A>G (n.2293-55A>G)
c.2443-55A>G (n.2443-55A>G)
c.2416-55A>G (n.2416-55A>G)
dbSNP
7g.150948598T=CA1752431593KCNH2n.3426-55A=
c.2593-55A= (n.2593-55A=)
c.1573-55A= (n.1573-55A=)
c.2293-55A= (n.2293-55A=)
c.2443-55A= (n.2443-55A=)
c.2416-55A= (n.2416-55A=)
7g.150948599C>ACA2685600567KCNH2n.3426-56G>T
c.2593-56G>T (n.2593-56G>T)
c.1573-56G>T (n.1573-56G>T)
c.2293-56G>T (n.2293-56G>T)
c.2443-56G>T (n.2443-56G>T)
c.2416-56G>T (n.2416-56G>T)
gnomAD v4
7g.150948599C>GCA2685600569KCNH2n.3426-56G>C
c.2593-56G>C (n.2593-56G>C)
c.1573-56G>C (n.1573-56G>C)
c.2293-56G>C (n.2293-56G>C)
c.2443-56G>C (n.2443-56G>C)
c.2416-56G>C (n.2416-56G>C)
gnomAD v4
7g.150948599C>TCA2685600568KCNH2n.3426-56G>A
c.2593-56G>A (n.2593-56G>A)
c.1573-56G>A (n.1573-56G>A)
c.2293-56G>A (n.2293-56G>A)
c.2443-56G>A (n.2443-56G>A)
c.2416-56G>A (n.2416-56G>A)
gnomAD v4
7g.150948600A>GCA2685600570KCNH2n.3426-57T>C
c.2593-57T>C (n.2593-57T>C)
c.1573-57T>C (n.1573-57T>C)
c.2293-57T>C (n.2293-57T>C)
c.2443-57T>C (n.2443-57T>C)
c.2416-57T>C (n.2416-57T>C)
gnomAD v4
7g.150948601G>TCA2685600571KCNH2n.3426-58C>A
c.2593-58C>A (n.2593-58C>A)
c.1573-58C>A (n.1573-58C>A)
c.2293-58C>A (n.2293-58C>A)
c.2443-58C>A (n.2443-58C>A)
c.2416-58C>A (n.2416-58C>A)
gnomAD v4

Number of alleles fetched