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.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.150947768G>ACA369853370KCNH2n.3636C>T
c.2803C>T (p.Pro935Ser)
c.1783C>T (p.Pro595Ser)
c.2503C>T (p.Pro835Ser)
c.2693-77C>T (n.2693-77C>T)
c.2653C>T (p.Pro885Ser)
c.2626C>T (p.Pro876Ser)
 ClinVar dbSNP gnomAD v4
7g.150947768G>CCA369853371KCNH2n.3636C>G
c.2803C>G (p.Pro935Ala)
c.1783C>G (p.Pro595Ala)
c.2503C>G (p.Pro835Ala)
c.2693-77C>G (n.2693-77C>G)
c.2653C>G (p.Pro885Ala)
c.2626C>G (p.Pro876Ala)
 ClinVar dbSNP
7g.150947768G=CA1752430189KCNH2n.3636C=
c.2803C= (p.Pro935=)
c.1783C= (p.Pro595=)
c.2503C= (p.Pro835=)
c.2693-77C= (n.2693-77C=)
c.2653C= (p.Pro885=)
c.2626C= (p.Pro876=)
7g.150947768G>TCA369853372KCNH2n.3636C>A
c.2803C>A (p.Pro935Thr)
c.1783C>A (p.Pro595Thr)
c.2503C>A (p.Pro835Thr)
c.2693-77C>A (n.2693-77C>A)
c.2653C>A (p.Pro885Thr)
c.2626C>A (p.Pro876Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.150947769G>ACA034882KCNH2n.3635C>T
c.2802C>T (p.Gly934=)
c.1782C>T (p.Gly594=)
c.2502C>T (p.Gly834=)
c.2693-78C>T (n.2693-78C>T)
c.2652C>T (p.Gly884=)
c.2625C>T (p.Gly875=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947769G>CCA458871105KCNH2n.3635C>G
c.2802C>G (p.Gly934=)
c.1782C>G (p.Gly594=)
c.2502C>G (p.Gly834=)
c.2693-78C>G (n.2693-78C>G)
c.2652C>G (p.Gly884=)
c.2625C>G (p.Gly875=)
 ClinVar dbSNP
7g.150947769G=CA1752430190KCNH2n.3635C=
c.2802C= (p.Gly934=)
c.1782C= (p.Gly594=)
c.2502C= (p.Gly834=)
c.2693-78C= (n.2693-78C=)
c.2652C= (p.Gly884=)
c.2625C= (p.Gly875=)
7g.150947769G>TCA458871104KCNH2n.3635C>A
c.2802C>A (p.Gly934=)
c.1782C>A (p.Gly594=)
c.2502C>A (p.Gly834=)
c.2693-78C>A (n.2693-78C>A)
c.2652C>A (p.Gly884=)
c.2625C>A (p.Gly875=)
 ClinVar gnomAD v4
7g.150947770C>ACA369853374KCNH2n.3634G>T
c.2801G>T (p.Gly934Val)
c.1781G>T (p.Gly594Val)
c.2501G>T (p.Gly834Val)
c.2693-79G>T (n.2693-79G>T)
c.2651G>T (p.Gly884Val)
c.2624G>T (p.Gly875Val)
 gnomAD v4
7g.150947770C>GCA369853375KCNH2n.3634G>C
c.2801G>C (p.Gly934Ala)
c.1781G>C (p.Gly594Ala)
c.2501G>C (p.Gly834Ala)
c.2693-79G>C (n.2693-79G>C)
c.2651G>C (p.Gly884Ala)
c.2624G>C (p.Gly875Ala)
7g.150947770C>TCA369853373KCNH2n.3634G>A
c.2801G>A (p.Gly934Asp)
c.1781G>A (p.Gly594Asp)
c.2501G>A (p.Gly834Asp)
c.2693-79G>A (n.2693-79G>A)
c.2651G>A (p.Gly884Asp)
c.2624G>A (p.Gly875Asp)
 gnomAD v4
7g.150947771C>ACA369853376KCNH2n.3633G>T
c.2800G>T (p.Gly934Cys)
c.1780G>T (p.Gly594Cys)
c.2500G>T (p.Gly834Cys)
c.2693-80G>T (n.2693-80G>T)
c.2650G>T (p.Gly884Cys)
c.2623G>T (p.Gly875Cys)
 ClinVar
7g.150947771C>GCA369853377KCNH2n.3633G>C
c.2800G>C (p.Gly934Arg)
c.1780G>C (p.Gly594Arg)
c.2500G>C (p.Gly834Arg)
c.2693-80G>C (n.2693-80G>C)
c.2650G>C (p.Gly884Arg)
c.2623G>C (p.Gly875Arg)
7g.150947771C>TCA369853378KCNH2n.3633G>A
c.2800G>A (p.Gly934Ser)
c.1780G>A (p.Gly594Ser)
c.2500G>A (p.Gly834Ser)
c.2693-80G>A (n.2693-80G>A)
c.2650G>A (p.Gly884Ser)
c.2623G>A (p.Gly875Ser)
7g.150947772A>CCA369853379KCNH2n.3632T>G
c.2799T>G (p.Ser933Arg)
c.1779T>G (p.Ser593Arg)
c.2499T>G (p.Ser833Arg)
c.2693-81T>G (n.2693-81T>G)
c.2649T>G (p.Ser883Arg)
c.2622T>G (p.Ser874Arg)
7g.150947772A>GCA458871112KCNH2n.3632T>C
c.2799T>C (p.Ser933=)
c.1779T>C (p.Ser593=)
c.2499T>C (p.Ser833=)
c.2693-81T>C (n.2693-81T>C)
c.2649T>C (p.Ser883=)
c.2622T>C (p.Ser874=)
 ClinVar gnomAD v4
7g.150947772A>TCA369853380KCNH2n.3632T>A
c.2799T>A (p.Ser933Arg)
c.1779T>A (p.Ser593Arg)
c.2499T>A (p.Ser833Arg)
c.2693-81T>A (n.2693-81T>A)
c.2649T>A (p.Ser883Arg)
c.2622T>A (p.Ser874Arg)
7g.150947773C>ACA369853381KCNH2n.3631G>T
c.2798G>T (p.Ser933Ile)
c.1778G>T (p.Ser593Ile)
c.2498G>T (p.Ser833Ile)
c.2693-82G>T (n.2693-82G>T)
c.2648G>T (p.Ser883Ile)
c.2621G>T (p.Ser874Ile)
 gnomAD v4
7g.150947773C=CA1752430191KCNH2n.3631G=
c.2798G= (p.Ser933=)
c.1778G= (p.Ser593=)
c.2498G= (p.Ser833=)
c.2693-82G= (n.2693-82G=)
c.2648G= (p.Ser883=)
c.2621G= (p.Ser874=)
7g.150947773C>GCA369853382KCNH2n.3631G>C
c.2798G>C (p.Ser933Thr)
c.1778G>C (p.Ser593Thr)
c.2498G>C (p.Ser833Thr)
c.2693-82G>C (n.2693-82G>C)
c.2648G>C (p.Ser883Thr)
c.2621G>C (p.Ser874Thr)
7g.150947773C>TCA369853383KCNH2n.3631G>A
c.2798G>A (p.Ser933Asn)
c.1778G>A (p.Ser593Asn)
c.2498G>A (p.Ser833Asn)
c.2693-82G>A (n.2693-82G>A)
c.2648G>A (p.Ser883Asn)
c.2621G>A (p.Ser874Asn)
 gnomAD v4
7g.150947774T>ACA369853384KCNH2n.3630A>T
c.2797A>T (p.Ser933Cys)
c.1777A>T (p.Ser593Cys)
c.2497A>T (p.Ser833Cys)
c.2693-83A>T (n.2693-83A>T)
c.2647A>T (p.Ser883Cys)
c.2620A>T (p.Ser874Cys)
7g.150947774T>CCA369853385KCNH2n.3630A>G
c.2797A>G (p.Ser933Gly)
c.1777A>G (p.Ser593Gly)
c.2497A>G (p.Ser833Gly)
c.2693-83A>G (n.2693-83A>G)
c.2647A>G (p.Ser883Gly)
c.2620A>G (p.Ser874Gly)
7g.150947774T>GCA369853386KCNH2n.3630A>C
c.2797A>C (p.Ser933Arg)
c.1777A>C (p.Ser593Arg)
c.2497A>C (p.Ser833Arg)
c.2693-83A>C (n.2693-83A>C)
c.2647A>C (p.Ser883Arg)
c.2620A>C (p.Ser874Arg)
7g.150947774dupCA305330KCNH2n.3630dup
c.2797dup (p.Ser933LysfsTer7)
c.1777dup (p.Ser593LysfsTer7)
c.2497dup (p.Ser833LysfsTer7)
c.2693-83dup (n.2693-83dup)
c.2647dup (p.Ser883LysfsTer7)
c.2620dup (p.Ser874LysfsTer7)
 ClinVar dbSNP
7g.150947775G>ACA458871124KCNH2n.3629C>T
c.2796C>T (p.Ser932=)
c.1776C>T (p.Ser592=)
c.2496C>T (p.Ser832=)
c.2693-84C>T (n.2693-84C>T)
c.2646C>T (p.Ser882=)
c.2619C>T (p.Ser873=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947775G>CCA458871126KCNH2n.3629C>G
c.2796C>G (p.Ser932=)
c.1776C>G (p.Ser592=)
c.2496C>G (p.Ser832=)
c.2693-84C>G (n.2693-84C>G)
c.2646C>G (p.Ser882=)
c.2619C>G (p.Ser873=)
7g.150947775G=CA1752430197KCNH2n.3629C=
c.2796C= (p.Ser932=)
c.1776C= (p.Ser592=)
c.2496C= (p.Ser832=)
c.2693-84C= (n.2693-84C=)
c.2646C= (p.Ser882=)
c.2619C= (p.Ser873=)
7g.150947775G>TCA458871129KCNH2n.3629C>A
c.2796C>A (p.Ser932=)
c.1776C>A (p.Ser592=)
c.2496C>A (p.Ser832=)
c.2693-84C>A (n.2693-84C>A)
c.2646C>A (p.Ser882=)
c.2619C>A (p.Ser873=)
 gnomAD v4
7g.150947776G>ACA369853388KCNH2n.3628C>T
c.2795C>T (p.Ser932Phe)
c.1775C>T (p.Ser592Phe)
c.2495C>T (p.Ser832Phe)
c.2693-85C>T (n.2693-85C>T)
c.2645C>T (p.Ser882Phe)
c.2618C>T (p.Ser873Phe)
 ClinVar dbSNP
7g.150947776G>CCA369853389KCNH2n.3628C>G
c.2795C>G (p.Ser932Cys)
c.1775C>G (p.Ser592Cys)
c.2495C>G (p.Ser832Cys)
c.2693-85C>G (n.2693-85C>G)
c.2645C>G (p.Ser882Cys)
c.2618C>G (p.Ser873Cys)
7g.150947776G=CA1752430198KCNH2n.3628C=
c.2795C= (p.Ser932=)
c.1775C= (p.Ser592=)
c.2495C= (p.Ser832=)
c.2693-85C= (n.2693-85C=)
c.2645C= (p.Ser882=)
c.2618C= (p.Ser873=)
7g.150947776G>TCA369853387KCNH2n.3628C>A
c.2795C>A (p.Ser932Tyr)
c.1775C>A (p.Ser592Tyr)
c.2495C>A (p.Ser832Tyr)
c.2693-85C>A (n.2693-85C>A)
c.2645C>A (p.Ser882Tyr)
c.2618C>A (p.Ser873Tyr)
 gnomAD v4
7g.150947777A=CA1752430199KCNH2n.3627T=
c.2794T= (p.Ser932=)
c.1774T= (p.Ser592=)
c.2494T= (p.Ser832=)
c.2693-86T= (n.2693-86T=)
c.2644T= (p.Ser882=)
c.2617T= (p.Ser873=)
7g.150947777A>CCA369853390KCNH2n.3627T>G
c.2794T>G (p.Ser932Ala)
c.1774T>G (p.Ser592Ala)
c.2494T>G (p.Ser832Ala)
c.2693-86T>G (n.2693-86T>G)
c.2644T>G (p.Ser882Ala)
c.2617T>G (p.Ser873Ala)
7g.150947777A>GCA369853391KCNH2n.3627T>C
c.2794T>C (p.Ser932Pro)
c.1774T>C (p.Ser592Pro)
c.2494T>C (p.Ser832Pro)
c.2693-86T>C (n.2693-86T>C)
c.2644T>C (p.Ser882Pro)
c.2617T>C (p.Ser873Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947777A>TCA369853392KCNH2n.3627T>A
c.2794T>A (p.Ser932Thr)
c.1774T>A (p.Ser592Thr)
c.2494T>A (p.Ser832Thr)
c.2693-86T>A (n.2693-86T>A)
c.2644T>A (p.Ser882Thr)
c.2617T>A (p.Ser873Thr)
7g.150947778C>ACA458871136KCNH2n.3626G>T
c.2793G>T (p.Pro931=)
c.1773G>T (p.Pro591=)
c.2493G>T (p.Pro831=)
c.2693-87G>T (n.2693-87G>T)
c.2643G>T (p.Pro881=)
c.2616G>T (p.Pro872=)
7g.150947778C=CA1752430202KCNH2n.3626G=
c.2793G= (p.Pro931=)
c.1773G= (p.Pro591=)
c.2493G= (p.Pro831=)
c.2693-87G= (n.2693-87G=)
c.2643G= (p.Pro881=)
c.2616G= (p.Pro872=)
7g.150947778C>GCA458871135KCNH2n.3626G>C
c.2793G>C (p.Pro931=)
c.1773G>C (p.Pro591=)
c.2493G>C (p.Pro831=)
c.2693-87G>C (n.2693-87G>C)
c.2643G>C (p.Pro881=)
c.2616G>C (p.Pro872=)
7g.150947778C>TCA169072570KCNH2n.3626G>A
c.2793G>A (p.Pro931=)
c.1773G>A (p.Pro591=)
c.2493G>A (p.Pro831=)
c.2693-87G>A (n.2693-87G>A)
c.2643G>A (p.Pro881=)
c.2616G>A (p.Pro872=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947778_150947779delinsCGCA1752430205KCNH2n.3625_3626delinsCG
c.2792_2793delinsCG (p.Pro931=)
c.1772_1773delinsCG (p.Pro591=)
c.2492_2493delinsCG (p.Pro831=)
c.2693-88_2693-87delinsCG (n.2693-88_2693-87delinsCG)
c.2642_2643delinsCG (p.Pro881=)
c.2615_2616delinsCG (p.Pro872=)
7g.150947779G>ACA034864KCNH2n.3625C>T
c.2792C>T (p.Pro931Leu)
c.1772C>T (p.Pro591Leu)
c.2492C>T (p.Pro831Leu)
c.2693-88C>T (n.2693-88C>T)
c.2642C>T (p.Pro881Leu)
c.2615C>T (p.Pro872Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947779G>CCA369853394KCNH2n.3625C>G
c.2792C>G (p.Pro931Arg)
c.1772C>G (p.Pro591Arg)
c.2492C>G (p.Pro831Arg)
c.2693-88C>G (n.2693-88C>G)
c.2642C>G (p.Pro881Arg)
c.2615C>G (p.Pro872Arg)
 ClinVar dbSNP
7g.150947779G=CA1752430206KCNH2n.3625C=
c.2792C= (p.Pro931=)
c.1772C= (p.Pro591=)
c.2492C= (p.Pro831=)
c.2693-88C= (n.2693-88C=)
c.2642C= (p.Pro881=)
c.2615C= (p.Pro872=)
7g.150947779G>TCA369853393KCNH2n.3625C>A
c.2792C>A (p.Pro931Gln)
c.1772C>A (p.Pro591Gln)
c.2492C>A (p.Pro831Gln)
c.2693-88C>A (n.2693-88C>A)
c.2642C>A (p.Pro881Gln)
c.2615C>A (p.Pro872Gln)
 ClinVar gnomAD v4
7g.150947781delCA007455KCNH2n.3625del
c.2792del (p.Pro931ArgfsTer?)
c.1772del (p.Pro591ArgfsTer?)
c.2492del (p.Pro831ArgfsTer?)
c.2693-88del (n.2693-88del)
c.2642del (p.Pro881ArgfsTer?)
c.2615del (p.Pro872ArgfsTer?)
 ClinVar dbSNP
7g.150947780G>ACA369853395KCNH2n.3624C>T
c.2791C>T (p.Pro931Ser)
c.1771C>T (p.Pro591Ser)
c.2491C>T (p.Pro831Ser)
c.2693-89C>T (n.2693-89C>T)
c.2641C>T (p.Pro881Ser)
c.2614C>T (p.Pro872Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.150947780G>CCA369853396KCNH2n.3624C>G
c.2791C>G (p.Pro931Ala)
c.1771C>G (p.Pro591Ala)
c.2491C>G (p.Pro831Ala)
c.2693-89C>G (n.2693-89C>G)
c.2641C>G (p.Pro881Ala)
c.2614C>G (p.Pro872Ala)
7g.150947780G=CA1752430214KCNH2n.3624C=
c.2791C= (p.Pro931=)
c.1771C= (p.Pro591=)
c.2491C= (p.Pro831=)
c.2693-89C= (n.2693-89C=)
c.2641C= (p.Pro881=)
c.2614C= (p.Pro872=)
7g.150947780G>TCA369853397KCNH2n.3624C>A
c.2791C>A (p.Pro931Thr)
c.1771C>A (p.Pro591Thr)
c.2491C>A (p.Pro831Thr)
c.2693-89C>A (n.2693-89C>A)
c.2641C>A (p.Pro881Thr)
c.2614C>A (p.Pro872Thr)
 gnomAD v4
7g.150947781G>ACA458871145KCNH2n.3623C>T
c.2790C>T (p.Ser930=)
c.1770C>T (p.Ser590=)
c.2490C>T (p.Ser830=)
c.2693-90C>T (n.2693-90C>T)
c.2640C>T (p.Ser880=)
c.2613C>T (p.Ser871=)
 gnomAD v4
7g.150947781G>CCA369853398KCNH2n.3623C>G
c.2790C>G (p.Ser930Arg)
c.1770C>G (p.Ser590Arg)
c.2490C>G (p.Ser830Arg)
c.2693-90C>G (n.2693-90C>G)
c.2640C>G (p.Ser880Arg)
c.2613C>G (p.Ser871Arg)
7g.150947781G>TCA369853399KCNH2n.3623C>A
c.2790C>A (p.Ser930Arg)
c.1770C>A (p.Ser590Arg)
c.2490C>A (p.Ser830Arg)
c.2693-90C>A (n.2693-90C>A)
c.2640C>A (p.Ser880Arg)
c.2613C>A (p.Ser871Arg)
 gnomAD v4 COSMIC COSMIC
7g.150947781_150947788delinsGCTCTCCCCA1752430215KCNH2n.3616_3623delinsGGGAGAGC
c.2783_2790delinsGGGAGAGC (p.Gly928=)
c.1763_1770delinsGGGAGAGC (p.Gly588=)
c.2483_2490delinsGGGAGAGC (p.Gly828=)
c.2693-97_2693-90delinsGGGAGAGC (n.2693-97_2693-90delinsGGGAGAGC)
c.2633_2640delinsGGGAGAGC (p.Gly878=)
c.2606_2613delinsGGGAGAGC (p.Gly869=)
7g.150947782C>ACA369853401KCNH2n.3622G>T
c.2789G>T (p.Ser930Ile)
c.1769G>T (p.Ser590Ile)
c.2489G>T (p.Ser830Ile)
c.2693-91G>T (n.2693-91G>T)
c.2639G>T (p.Ser880Ile)
c.2612G>T (p.Ser871Ile)
 ClinVar dbSNP gnomAD v4
7g.150947782C>GCA369853402KCNH2n.3622G>C
c.2789G>C (p.Ser930Thr)
c.1769G>C (p.Ser590Thr)
c.2489G>C (p.Ser830Thr)
c.2693-91G>C (n.2693-91G>C)
c.2639G>C (p.Ser880Thr)
c.2612G>C (p.Ser871Thr)
7g.150947782C>TCA369853400KCNH2n.3622G>A
c.2789G>A (p.Ser930Asn)
c.1769G>A (p.Ser590Asn)
c.2489G>A (p.Ser830Asn)
c.2693-91G>A (n.2693-91G>A)
c.2639G>A (p.Ser880Asn)
c.2612G>A (p.Ser871Asn)
7g.150947783_150947789delCA007437KCNH2n.3616_3622del
c.2783_2789del (p.Gly928AlafsTer?)
c.1763_1769del (p.Gly588AlafsTer?)
c.2483_2489del (p.Gly828AlafsTer?)
c.2693-97_2693-91del (n.2693-97_2693-91del)
c.2633_2639del (p.Gly878AlafsTer?)
c.2606_2612del (p.Gly869AlafsTer?)
 ClinVar dbSNP
7g.150947783T>ACA369853403KCNH2n.3621A>T
c.2788A>T (p.Ser930Cys)
c.1768A>T (p.Ser590Cys)
c.2488A>T (p.Ser830Cys)
c.2693-92A>T (n.2693-92A>T)
c.2638A>T (p.Ser880Cys)
c.2611A>T (p.Ser871Cys)
7g.150947783T>CCA369853404KCNH2n.3621A>G
c.2788A>G (p.Ser930Gly)
c.1768A>G (p.Ser590Gly)
c.2488A>G (p.Ser830Gly)
c.2693-92A>G (n.2693-92A>G)
c.2638A>G (p.Ser880Gly)
c.2611A>G (p.Ser871Gly)
 ClinVar dbSNP gnomAD v4
7g.150947783T>GCA007448KCNH2n.3621A>C
c.2788A>C (p.Ser930Arg)
c.1768A>C (p.Ser590Arg)
c.2488A>C (p.Ser830Arg)
c.2693-92A>C (n.2693-92A>C)
c.2638A>C (p.Ser880Arg)
c.2611A>C (p.Ser871Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947783T=CA1752430222KCNH2n.3621A=
c.2788A= (p.Ser930=)
c.1768A= (p.Ser590=)
c.2488A= (p.Ser830=)
c.2693-92A= (n.2693-92A=)
c.2638A= (p.Ser880=)
c.2611A= (p.Ser871=)
7g.150947784C>ACA369853405KCNH2n.3620G>T
c.2787G>T (p.Glu929Asp)
c.1767G>T (p.Glu589Asp)
c.2487G>T (p.Glu829Asp)
c.2693-93G>T (n.2693-93G>T)
c.2637G>T (p.Glu879Asp)
c.2610G>T (p.Glu870Asp)
7g.150947784C=CA1752430226KCNH2n.3620G=
c.2787G= (p.Glu929=)
c.1767G= (p.Glu589=)
c.2487G= (p.Glu829=)
c.2693-93G= (n.2693-93G=)
c.2637G= (p.Glu879=)
c.2610G= (p.Glu870=)
7g.150947784C>GCA369853406KCNH2n.3620G>C
c.2787G>C (p.Glu929Asp)
c.1767G>C (p.Glu589Asp)
c.2487G>C (p.Glu829Asp)
c.2693-93G>C (n.2693-93G>C)
c.2637G>C (p.Glu879Asp)
c.2610G>C (p.Glu870Asp)
7g.150947784C>TCA458871158KCNH2n.3620G>A
c.2787G>A (p.Glu929=)
c.1767G>A (p.Glu589=)
c.2487G>A (p.Glu829=)
c.2693-93G>A (n.2693-93G>A)
c.2637G>A (p.Glu879=)
c.2610G>A (p.Glu870=)
 gnomAD v4
7g.150947785T>ACA369853409KCNH2n.3619A>T
c.2786A>T (p.Glu929Val)
c.1766A>T (p.Glu589Val)
c.2486A>T (p.Glu829Val)
c.2693-94A>T (n.2693-94A>T)
c.2636A>T (p.Glu879Val)
c.2609A>T (p.Glu870Val)
 dbSNP
7g.150947785T>CCA369853408KCNH2n.3619A>G
c.2786A>G (p.Glu929Gly)
c.1766A>G (p.Glu589Gly)
c.2486A>G (p.Glu829Gly)
c.2693-94A>G (n.2693-94A>G)
c.2636A>G (p.Glu879Gly)
c.2609A>G (p.Glu870Gly)
 gnomAD v4
7g.150947785T>GCA369853407KCNH2n.3619A>C
c.2786A>C (p.Glu929Ala)
c.1766A>C (p.Glu589Ala)
c.2486A>C (p.Glu829Ala)
c.2693-94A>C (n.2693-94A>C)
c.2636A>C (p.Glu879Ala)
c.2609A>C (p.Glu870Ala)
7g.150947785T=CA1752430233KCNH2n.3619A=
c.2786A= (p.Glu929=)
c.1766A= (p.Glu589=)
c.2486A= (p.Glu829=)
c.2693-94A= (n.2693-94A=)
c.2636A= (p.Glu879=)
c.2609A= (p.Glu870=)
7g.150947785_150947786delinsTCCA1752430232KCNH2n.3618_3619delinsGA
c.2785_2786delinsGA (p.Glu929=)
c.1765_1766delinsGA (p.Glu589=)
c.2485_2486delinsGA (p.Glu829=)
c.2693-95_2693-94delinsGA (n.2693-95_2693-94delinsGA)
c.2635_2636delinsGA (p.Glu879=)
c.2608_2609delinsGA (p.Glu870=)
7g.150947785_150947792dupCA915945570KCNH2n.3612_3619dup
c.2779_2786dup (p.Glu929AspfsTer?)
c.1759_1766dup (p.Glu589AspfsTer?)
c.2479_2486dup (p.Glu829AspfsTer?)
c.2693-101_2693-94dup (n.2693-101_2693-94dup)
c.2629_2636dup (p.Glu879AspfsTer?)
c.2602_2609dup (p.Glu870AspfsTer?)
 ClinVar dbSNP
7g.150947786C>ACA369853410KCNH2n.3618G>T
c.2785G>T (p.Glu929Ter)
c.1765G>T (p.Glu589Ter)
c.2485G>T (p.Glu829Ter)
c.2693-95G>T (n.2693-95G>T)
c.2635G>T (p.Glu879Ter)
c.2608G>T (p.Glu870Ter)
 gnomAD v4
7g.150947786C=CA1752430239KCNH2n.3618G=
c.2785G= (p.Glu929=)
c.1765G= (p.Glu589=)
c.2485G= (p.Glu829=)
c.2693-95G= (n.2693-95G=)
c.2635G= (p.Glu879=)
c.2608G= (p.Glu870=)
7g.150947786C>GCA369853411KCNH2n.3618G>C
c.2785G>C (p.Glu929Gln)
c.1765G>C (p.Glu589Gln)
c.2485G>C (p.Glu829Gln)
c.2693-95G>C (n.2693-95G>C)
c.2635G>C (p.Glu879Gln)
c.2608G>C (p.Glu870Gln)
 ClinVar dbSNP
7g.150947786C>TCA369853412KCNH2n.3618G>A
c.2785G>A (p.Glu929Lys)
c.1765G>A (p.Glu589Lys)
c.2485G>A (p.Glu829Lys)
c.2693-95G>A (n.2693-95G>A)
c.2635G>A (p.Glu879Lys)
c.2608G>A (p.Glu870Lys)
7g.150947791dupCA305329KCNH2n.3618dup
c.2785dup (p.Glu929GlyfsTer11)
c.1765dup (p.Glu589GlyfsTer11)
c.2485dup (p.Glu829GlyfsTer11)
c.2693-95dup (n.2693-95dup)
c.2635dup (p.Glu879GlyfsTer11)
c.2608dup (p.Glu870GlyfsTer11)
 ClinVar dbSNP gnomAD v4
7g.150947791delCA1139660335KCNH2n.3618del
c.2785del (p.Glu929ArgfsTer?)
c.1765del (p.Glu589ArgfsTer?)
c.2485del (p.Glu829ArgfsTer?)
c.2693-95del (n.2693-95del)
c.2635del (p.Glu879ArgfsTer?)
c.2608del (p.Glu870ArgfsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947787C>ACA458871172KCNH2n.3617G>T
c.2784G>T (p.Gly928=)
c.1764G>T (p.Gly588=)
c.2484G>T (p.Gly828=)
c.2693-96G>T (n.2693-96G>T)
c.2634G>T (p.Gly878=)
c.2607G>T (p.Gly869=)
 gnomAD v4
7g.150947787C=CA1752430245KCNH2n.3617G=
c.2784G= (p.Gly928=)
c.1764G= (p.Gly588=)
c.2484G= (p.Gly828=)
c.2693-96G= (n.2693-96G=)
c.2634G= (p.Gly878=)
c.2607G= (p.Gly869=)
7g.150947787C>GCA458871171KCNH2n.3617G>C
c.2784G>C (p.Gly928=)
c.1764G>C (p.Gly588=)
c.2484G>C (p.Gly828=)
c.2693-96G>C (n.2693-96G>C)
c.2634G>C (p.Gly878=)
c.2607G>C (p.Gly869=)
7g.150947787C>TCA458871169KCNH2n.3617G>A
c.2784G>A (p.Gly928=)
c.1764G>A (p.Gly588=)
c.2484G>A (p.Gly828=)
c.2693-96G>A (n.2693-96G>A)
c.2634G>A (p.Gly878=)
c.2607G>A (p.Gly869=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947792_150947800dupCA835222386KCNH2n.3609_3617dup
c.2776_2784dup (p.Gly928_Glu929insProTrpGly)
c.1756_1764dup (p.Gly588_Glu589insProTrpGly)
c.2476_2484dup (p.Gly828_Glu829insProTrpGly)
c.2693-104_2693-96dup (n.2693-104_2693-96dup)
c.2626_2634dup (p.Gly878_Glu879insProTrpGly)
c.2599_2607dup (p.Gly869_Glu870insProTrpGly)
 ClinVar dbSNP gnomAD v4
7g.150947788C>ACA369853413KCNH2n.3616G>T
c.2783G>T (p.Gly928Val)
c.1763G>T (p.Gly588Val)
c.2483G>T (p.Gly828Val)
c.2693-97G>T (n.2693-97G>T)
c.2633G>T (p.Gly878Val)
c.2606G>T (p.Gly869Val)
 dbSNP
7g.150947788C=CA1752430246KCNH2n.3616G=
c.2783G= (p.Gly928=)
c.1763G= (p.Gly588=)
c.2483G= (p.Gly828=)
c.2693-97G= (n.2693-97G=)
c.2633G= (p.Gly878=)
c.2606G= (p.Gly869=)
7g.150947788C>GCA369853414KCNH2n.3616G>C
c.2783G>C (p.Gly928Ala)
c.1763G>C (p.Gly588Ala)
c.2483G>C (p.Gly828Ala)
c.2693-97G>C (n.2693-97G>C)
c.2633G>C (p.Gly878Ala)
c.2606G>C (p.Gly869Ala)
 gnomAD v4
7g.150947788C>TCA369853415KCNH2n.3616G>A
c.2783G>A (p.Gly928Glu)
c.1763G>A (p.Gly588Glu)
c.2483G>A (p.Gly828Glu)
c.2693-97G>A (n.2693-97G>A)
c.2633G>A (p.Gly878Glu)
c.2606G>A (p.Gly869Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947789C>ACA369853416KCNH2n.3615G>T
c.2782G>T (p.Gly928Trp)
c.1762G>T (p.Gly588Trp)
c.2482G>T (p.Gly828Trp)
c.2693-98G>T (n.2693-98G>T)
c.2632G>T (p.Gly878Trp)
c.2605G>T (p.Gly869Trp)
 ClinVar gnomAD v4
7g.150947789C=CA1752430247KCNH2n.3615G=
c.2782G= (p.Gly928=)
c.1762G= (p.Gly588=)
c.2482G= (p.Gly828=)
c.2693-98G= (n.2693-98G=)
c.2632G= (p.Gly878=)
c.2605G= (p.Gly869=)
7g.150947789C>GCA369853417KCNH2n.3615G>C
c.2782G>C (p.Gly928Arg)
c.1762G>C (p.Gly588Arg)
c.2482G>C (p.Gly828Arg)
c.2693-98G>C (n.2693-98G>C)
c.2632G>C (p.Gly878Arg)
c.2605G>C (p.Gly869Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947789C>TCA034828KCNH2n.3615G>A
c.2782G>A (p.Gly928Arg)
c.1762G>A (p.Gly588Arg)
c.2482G>A (p.Gly828Arg)
c.2693-98G>A (n.2693-98G>A)
c.2632G>A (p.Gly878Arg)
c.2605G>A (p.Gly869Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947790C>ACA169072589KCNH2n.3614G>T
c.2781G>T (p.Trp927Cys)
c.1761G>T (p.Trp587Cys)
c.2481G>T (p.Trp827Cys)
c.2693-99G>T (n.2693-99G>T)
c.2631G>T (p.Trp877Cys)
c.2604G>T (p.Trp868Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947790C=CA1752430250KCNH2n.3614G=
c.2781G= (p.Trp927=)
c.1761G= (p.Trp587=)
c.2481G= (p.Trp827=)
c.2693-99G= (n.2693-99G=)
c.2631G= (p.Trp877=)
c.2604G= (p.Trp868=)
7g.150947790C>GCA369853418KCNH2n.3614G>C
c.2781G>C (p.Trp927Cys)
c.1761G>C (p.Trp587Cys)
c.2481G>C (p.Trp827Cys)
c.2693-99G>C (n.2693-99G>C)
c.2631G>C (p.Trp877Cys)
c.2604G>C (p.Trp868Cys)
 dbSNP gnomAD v3 gnomAD v4
7g.150947790C>TCA369853419KCNH2n.3614G>A
c.2781G>A (p.Trp927Ter)
c.1761G>A (p.Trp587Ter)
c.2481G>A (p.Trp827Ter)
c.2693-99G>A (n.2693-99G>A)
c.2631G>A (p.Trp877Ter)
c.2604G>A (p.Trp868Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.150947791C>ACA007429KCNH2n.3613G>T
c.2780G>T (p.Trp927Leu)
c.1760G>T (p.Trp587Leu)
c.2480G>T (p.Trp827Leu)
c.2693-100G>T (n.2693-100G>T)
c.2630G>T (p.Trp877Leu)
c.2603G>T (p.Trp868Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947791C=CA1752430253KCNH2n.3613G=
c.2780G= (p.Trp927=)
c.1760G= (p.Trp587=)
c.2480G= (p.Trp827=)
c.2693-100G= (n.2693-100G=)
c.2630G= (p.Trp877=)
c.2603G= (p.Trp868=)
7g.150947791C>GCA369853420KCNH2n.3613G>C
c.2780G>C (p.Trp927Ser)
c.1760G>C (p.Trp587Ser)
c.2480G>C (p.Trp827Ser)
c.2693-100G>C (n.2693-100G>C)
c.2630G>C (p.Trp877Ser)
c.2603G>C (p.Trp868Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.150947791C>TCA007420KCNH2n.3613G>A
c.2780G>A (p.Trp927Ter)
c.1760G>A (p.Trp587Ter)
c.2480G>A (p.Trp827Ter)
c.2693-100G>A (n.2693-100G>A)
c.2630G>A (p.Trp877Ter)
c.2603G>A (p.Trp868Ter)
 ClinVar dbSNP gnomAD v4
7g.150947792A=CA1752430261KCNH2n.3612T=
c.2779T= (p.Trp927=)
c.1759T= (p.Trp587=)
c.2479T= (p.Trp827=)
c.2693-101T= (n.2693-101T=)
c.2629T= (p.Trp877=)
c.2602T= (p.Trp868=)
7g.150947792A>CCA369853421KCNH2n.3612T>G
c.2779T>G (p.Trp927Gly)
c.1759T>G (p.Trp587Gly)
c.2479T>G (p.Trp827Gly)
c.2693-101T>G (n.2693-101T>G)
c.2629T>G (p.Trp877Gly)
c.2602T>G (p.Trp868Gly)
7g.150947792A>GCA369853422KCNH2n.3612T>C
c.2779T>C (p.Trp927Arg)
c.1759T>C (p.Trp587Arg)
c.2479T>C (p.Trp827Arg)
c.2693-101T>C (n.2693-101T>C)
c.2629T>C (p.Trp877Arg)
c.2602T>C (p.Trp868Arg)
7g.150947792A>TCA369853423KCNH2n.3612T>A
c.2779T>A (p.Trp927Arg)
c.1759T>A (p.Trp587Arg)
c.2479T>A (p.Trp827Arg)
c.2693-101T>A (n.2693-101T>A)
c.2629T>A (p.Trp877Arg)
c.2602T>A (p.Trp868Arg)
7g.150947793C>ACA16612299KCNH2n.3611G>T
c.2778G>T (p.Pro926=)
c.1758G>T (p.Pro586=)
c.2478G>T (p.Pro826=)
c.2693-102G>T (n.2693-102G>T)
c.2628G>T (p.Pro876=)
c.2601G>T (p.Pro867=)
 ClinVar dbSNP gnomAD v4
7g.150947793C=CA1752430264KCNH2n.3611G=
c.2778G= (p.Pro926=)
c.1758G= (p.Pro586=)
c.2478G= (p.Pro826=)
c.2693-102G= (n.2693-102G=)
c.2628G= (p.Pro876=)
c.2601G= (p.Pro867=)
7g.150947793C>GCA458871185KCNH2n.3611G>C
c.2778G>C (p.Pro926=)
c.1758G>C (p.Pro586=)
c.2478G>C (p.Pro826=)
c.2693-102G>C (n.2693-102G>C)
c.2628G>C (p.Pro876=)
c.2601G>C (p.Pro867=)
 gnomAD v4
7g.150947793C>TCA169072598KCNH2n.3611G>A
c.2778G>A (p.Pro926=)
c.1758G>A (p.Pro586=)
c.2478G>A (p.Pro826=)
c.2693-102G>A (n.2693-102G>A)
c.2628G>A (p.Pro876=)
c.2601G>A (p.Pro867=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947793_150947794delinsCGCA1752430263KCNH2n.3610_3611delinsCG
c.2777_2778delinsCG (p.Pro926=)
c.1757_1758delinsCG (p.Pro586=)
c.2477_2478delinsCG (p.Pro826=)
c.2693-103_2693-102delinsCG (n.2693-103_2693-102delinsCG)
c.2627_2628delinsCG (p.Pro876=)
c.2600_2601delinsCG (p.Pro867=)
7g.150947798_150947806dupCA579075208KCNH2n.3603_3611dup
c.2770_2778dup (p.Pro926_Trp927insGlyGlyPro)
c.1750_1758dup (p.Pro586_Trp587insGlyGlyPro)
c.2470_2478dup (p.Pro826_Trp827insGlyGlyPro)
c.2693-110_2693-102dup (n.2693-110_2693-102dup)
c.2620_2628dup (p.Pro876_Trp877insGlyGlyPro)
c.2593_2601dup (p.Pro867_Trp868insGlyGlyPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947794G>ACA169072602KCNH2n.3610C>T
c.2777C>T (p.Pro926Leu)
c.1757C>T (p.Pro586Leu)
c.2477C>T (p.Pro826Leu)
c.2693-103C>T (n.2693-103C>T)
c.2627C>T (p.Pro876Leu)
c.2600C>T (p.Pro867Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150947794G>CCA369853424KCNH2n.3610C>G
c.2777C>G (p.Pro926Arg)
c.1757C>G (p.Pro586Arg)
c.2477C>G (p.Pro826Arg)
c.2693-103C>G (n.2693-103C>G)
c.2627C>G (p.Pro876Arg)
c.2600C>G (p.Pro867Arg)
7g.150947794G=CA1752430275KCNH2n.3610C=
c.2777C= (p.Pro926=)
c.1757C= (p.Pro586=)
c.2477C= (p.Pro826=)
c.2693-103C= (n.2693-103C=)
c.2627C= (p.Pro876=)
c.2600C= (p.Pro867=)
7g.150947794G>TCA369853425KCNH2n.3610C>A
c.2777C>A (p.Pro926Gln)
c.1757C>A (p.Pro586Gln)
c.2477C>A (p.Pro826Gln)
c.2693-103C>A (n.2693-103C>A)
c.2627C>A (p.Pro876Gln)
c.2600C>A (p.Pro867Gln)
 gnomAD v4
7g.150947795delCA007411KCNH2n.3610del
c.2777del (p.Pro926ArgfsTer?)
c.1757del (p.Pro586ArgfsTer?)
c.2477del (p.Pro826ArgfsTer?)
c.2693-103del (n.2693-103del)
c.2627del (p.Pro876ArgfsTer?)
c.2600del (p.Pro867ArgfsTer?)
 ClinVar dbSNP
7g.150947795G>ACA169072612KCNH2n.3609C>T
c.2776C>T (p.Pro926Ser)
c.1756C>T (p.Pro586Ser)
c.2476C>T (p.Pro826Ser)
c.2693-104C>T (n.2693-104C>T)
c.2626C>T (p.Pro876Ser)
c.2599C>T (p.Pro867Ser)
 ClinVar dbSNP gnomAD v4
7g.150947795G>CCA369853427KCNH2n.3609C>G
c.2776C>G (p.Pro926Ala)
c.1756C>G (p.Pro586Ala)
c.2476C>G (p.Pro826Ala)
c.2693-104C>G (n.2693-104C>G)
c.2626C>G (p.Pro876Ala)
c.2599C>G (p.Pro867Ala)
7g.150947795G=CA1752430278KCNH2n.3609C=
c.2776C= (p.Pro926=)
c.1756C= (p.Pro586=)
c.2476C= (p.Pro826=)
c.2693-104C= (n.2693-104C=)
c.2626C= (p.Pro876=)
c.2599C= (p.Pro867=)
7g.150947795G>TCA369853426KCNH2n.3609C>A
c.2776C>A (p.Pro926Thr)
c.1756C>A (p.Pro586Thr)
c.2476C>A (p.Pro826Thr)
c.2693-104C>A (n.2693-104C>A)
c.2626C>A (p.Pro876Thr)
c.2599C>A (p.Pro867Thr)
 gnomAD v4
7g.150947795_150947796delinsGCCA1752430277KCNH2n.3608_3609delinsGC
c.2775_2776delinsGC (p.Gly925=)
c.1755_1756delinsGC (p.Gly585=)
c.2475_2476delinsGC (p.Gly825=)
c.2693-105_2693-104delinsGC (n.2693-105_2693-104delinsGC)
c.2625_2626delinsGC (p.Gly875=)
c.2598_2599delinsGC (p.Gly866=)
7g.150947796C>ACA458871193KCNH2n.3608G>T
c.2775G>T (p.Gly925=)
c.1755G>T (p.Gly585=)
c.2475G>T (p.Gly825=)
c.2693-105G>T (n.2693-105G>T)
c.2625G>T (p.Gly875=)
c.2598G>T (p.Gly866=)
 gnomAD v4
7g.150947796C=CA1752430285KCNH2n.3608G=
c.2775G= (p.Gly925=)
c.1755G= (p.Gly585=)
c.2475G= (p.Gly825=)
c.2693-105G= (n.2693-105G=)
c.2625G= (p.Gly875=)
c.2598G= (p.Gly866=)
7g.150947796C>GCA458871196KCNH2n.3608G>C
c.2775G>C (p.Gly925=)
c.1755G>C (p.Gly585=)
c.2475G>C (p.Gly825=)
c.2693-105G>C (n.2693-105G>C)
c.2625G>C (p.Gly875=)
c.2598G>C (p.Gly866=)
 ClinVar dbSNP
7g.150947796C>TCA458871197KCNH2n.3608G>A
c.2775G>A (p.Gly925=)
c.1755G>A (p.Gly585=)
c.2475G>A (p.Gly825=)
c.2693-105G>A (n.2693-105G>A)
c.2625G>A (p.Gly875=)
c.2598G>A (p.Gly866=)
 ClinVar dbSNP gnomAD v4
7g.150947796_150947797delinsACA2499218790KCNH2n.3607_3608delinsT
c.2774_2775delinsT (p.Gly925ValfsTer?)
c.1754_1755delinsT (p.Gly585ValfsTer?)
c.2474_2475delinsT (p.Gly825ValfsTer?)
c.2693-106_2693-105delinsT (n.2693-106_2693-105delinsT)
c.2624_2625delinsT (p.Gly875ValfsTer?)
c.2597_2598delinsT (p.Gly866ValfsTer?)
 ClinVar dbSNP
7g.150947796_150947797delinsAACA2499218789KCNH2n.3607_3608delinsTT
c.2774_2775delinsTT (p.Gly925Val)
c.1754_1755delinsTT (p.Gly585Val)
c.2474_2475delinsTT (p.Gly825Val)
c.2693-106_2693-105delinsTT (n.2693-106_2693-105delinsTT)
c.2624_2625delinsTT (p.Gly875Val)
c.2597_2598delinsTT (p.Gly866Val)
 ClinVar dbSNP
7g.150947802dupCA305328KCNH2n.3608dup
c.2775dup (p.Pro926AlafsTer14)
c.1755dup (p.Pro586AlafsTer14)
c.2475dup (p.Pro826AlafsTer14)
c.2693-105dup (n.2693-105dup)
c.2625dup (p.Pro876AlafsTer14)
c.2598dup (p.Pro867AlafsTer14)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150947801_150947802dupCA2778424999KCNH2n.3607_3608dup
c.2774_2775dup (p.Pro926GlyfsTer?)
c.1754_1755dup (p.Pro586GlyfsTer?)
c.2474_2475dup (p.Pro826GlyfsTer?)
c.2693-106_2693-105dup (n.2693-106_2693-105dup)
c.2624_2625dup (p.Pro876GlyfsTer?)
c.2597_2598dup (p.Pro867GlyfsTer?)
7g.150947802delCA579075209KCNH2n.3608del
c.2775del (p.Pro926ArgfsTer?)
c.1755del (p.Pro586ArgfsTer?)
c.2475del (p.Pro826ArgfsTer?)
c.2693-105del (n.2693-105del)
c.2625del (p.Pro876ArgfsTer?)
c.2598del (p.Pro867ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947799_150947832delCA658761318KCNH2n.3575_3608del
c.2742_2775del (p.Ala915ArgfsTer?)
c.1722_1755del (p.Ala575ArgfsTer?)
c.2442_2475del (p.Ala815ArgfsTer?)
c.2693-138_2693-105del (n.2693-138_2693-105del)
c.2592_2625del (p.Ala865ArgfsTer?)
c.2565_2598del (p.Ala856ArgfsTer?)
 ClinVar
7g.150947797C>ACA007400KCNH2n.3607G>T
c.2774G>T (p.Gly925Val)
c.1754G>T (p.Gly585Val)
c.2474G>T (p.Gly825Val)
c.2693-106G>T (n.2693-106G>T)
c.2624G>T (p.Gly875Val)
c.2597G>T (p.Gly866Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947797C=CA1752430294KCNH2n.3607G=
c.2774G= (p.Gly925=)
c.1754G= (p.Gly585=)
c.2474G= (p.Gly825=)
c.2693-106G= (n.2693-106G=)
c.2624G= (p.Gly875=)
c.2597G= (p.Gly866=)
7g.150947797C>GCA007391KCNH2n.3607G>C
c.2774G>C (p.Gly925Ala)
c.1754G>C (p.Gly585Ala)
c.2474G>C (p.Gly825Ala)
c.2693-106G>C (n.2693-106G>C)
c.2624G>C (p.Gly875Ala)
c.2597G>C (p.Gly866Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947797C>TCA369853428KCNH2n.3607G>A
c.2774G>A (p.Gly925Glu)
c.1754G>A (p.Gly585Glu)
c.2474G>A (p.Gly825Glu)
c.2693-106G>A (n.2693-106G>A)
c.2624G>A (p.Gly875Glu)
c.2597G>A (p.Gly866Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947797_150947827delinsCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCA1752430292KCNH2n.3577_3607delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG
c.2744_2774delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG (p.Ala915=)
c.1724_1754delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG (p.Ala575=)
c.2444_2474delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG (p.Ala815=)
c.2693-136_2693-106delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG (n.2693-136_2693-106delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG)
c.2594_2624delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG (p.Ala865=)
c.2567_2597delinsCAGGGCCGAGTAGCCGGGGCCGGCCGGGGGG (p.Ala856=)
7g.150947798C>ACA369853429KCNH2n.3606G>T
c.2773G>T (p.Gly925Trp)
c.1753G>T (p.Gly585Trp)
c.2473G>T (p.Gly825Trp)
c.2693-107G>T (n.2693-107G>T)
c.2623G>T (p.Gly875Trp)
c.2596G>T (p.Gly866Trp)
 gnomAD v4
7g.150947798C=CA1752430298KCNH2n.3606G=
c.2773G= (p.Gly925=)
c.1753G= (p.Gly585=)
c.2473G= (p.Gly825=)
c.2693-107G= (n.2693-107G=)
c.2623G= (p.Gly875=)
c.2596G= (p.Gly866=)
7g.150947798C>GCA369853430KCNH2n.3606G>C
c.2773G>C (p.Gly925Arg)
c.1753G>C (p.Gly585Arg)
c.2473G>C (p.Gly825Arg)
c.2693-107G>C (n.2693-107G>C)
c.2623G>C (p.Gly875Arg)
c.2596G>C (p.Gly866Arg)
7g.150947798C>TCA007384KCNH2n.3606G>A
c.2773G>A (p.Gly925Arg)
c.1753G>A (p.Gly585Arg)
c.2473G>A (p.Gly825Arg)
c.2693-107G>A (n.2693-107G>A)
c.2623G>A (p.Gly875Arg)
c.2596G>A (p.Gly866Arg)
 ClinVar dbSNP ExAC gnomAD v4
7g.150947798_150947808delinsCCCCCGGCCGGCA1752430299KCNH2n.3596_3606delinsCCGGCCGGGGG
c.2763_2773delinsCCGGCCGGGGG (p.Gly921=)
c.1743_1753delinsCCGGCCGGGGG (p.Gly581=)
c.2463_2473delinsCCGGCCGGGGG (p.Gly821=)
c.2693-117_2693-107delinsCCGGCCGGGGG (n.2693-117_2693-107delinsCCGGCCGGGGG)
c.2613_2623delinsCCGGCCGGGGG (p.Gly871=)
c.2586_2596delinsCCGGCCGGGGG (p.Gly862=)
7g.150947804_150947833delCA1752430297KCNH2n.3577_3606del
c.2744_2773del (p.Ala915_Gly924del)
c.1724_1753del (p.Ala575_Gly584del)
c.2444_2473del (p.Ala815_Gly824del)
c.2693-136_2693-107del (n.2693-136_2693-107del)
c.2594_2623del (p.Ala865_Gly874del)
c.2567_2596del (p.Ala856_Gly865del)
 ClinVar dbSNP
7g.150947799C>ACA458871198KCNH2n.3605G>T
c.2772G>T (p.Gly924=)
c.1752G>T (p.Gly584=)
c.2472G>T (p.Gly824=)
c.2693-108G>T (n.2693-108G>T)
c.2622G>T (p.Gly874=)
c.2595G>T (p.Gly865=)
7g.150947799C=CA1752430303KCNH2n.3605G=
c.2772G= (p.Gly924=)
c.1752G= (p.Gly584=)
c.2472G= (p.Gly824=)
c.2693-108G= (n.2693-108G=)
c.2622G= (p.Gly874=)
c.2595G= (p.Gly865=)
7g.150947799C>GCA458871200KCNH2n.3605G>C
c.2772G>C (p.Gly924=)
c.1752G>C (p.Gly584=)
c.2472G>C (p.Gly824=)
c.2693-108G>C (n.2693-108G>C)
c.2622G>C (p.Gly874=)
c.2595G>C (p.Gly865=)
7g.150947799C>TCA034787KCNH2n.3605G>A
c.2772G>A (p.Gly924=)
c.1752G>A (p.Gly584=)
c.2472G>A (p.Gly824=)
c.2693-108G>A (n.2693-108G>A)
c.2622G>A (p.Gly874=)
c.2595G>A (p.Gly865=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947806_150947815delCA658797033KCNH2n.3596_3605del
c.2763_2772del (p.Arg922GlyfsTer?)
c.1743_1752del (p.Arg582GlyfsTer?)
c.2463_2472del (p.Arg822GlyfsTer?)
c.2693-117_2693-108del (n.2693-117_2693-108del)
c.2613_2622del (p.Arg872GlyfsTer?)
c.2586_2595del (p.Arg863GlyfsTer?)
 ClinVar dbSNP
7g.150947800C>ACA369853431KCNH2n.3604G>T
c.2771G>T (p.Gly924Val)
c.1751G>T (p.Gly584Val)
c.2471G>T (p.Gly824Val)
c.2693-109G>T (n.2693-109G>T)
c.2621G>T (p.Gly874Val)
c.2594G>T (p.Gly865Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947800C=CA1752430308KCNH2n.3604G=
c.2771G= (p.Gly924=)
c.1751G= (p.Gly584=)
c.2471G= (p.Gly824=)
c.2693-109G= (n.2693-109G=)
c.2621G= (p.Gly874=)
c.2594G= (p.Gly865=)
7g.150947800C>GCA007376KCNH2n.3604G>C
c.2771G>C (p.Gly924Ala)
c.1751G>C (p.Gly584Ala)
c.2471G>C (p.Gly824Ala)
c.2693-109G>C (n.2693-109G>C)
c.2621G>C (p.Gly874Ala)
c.2594G>C (p.Gly865Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947800C>TCA007369KCNH2n.3604G>A
c.2771G>A (p.Gly924Glu)
c.1751G>A (p.Gly584Glu)
c.2471G>A (p.Gly824Glu)
c.2693-109G>A (n.2693-109G>A)
c.2621G>A (p.Gly874Glu)
c.2594G>A (p.Gly865Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947800_150947802delinsCCCCA1752430309KCNH2n.3602_3604delinsGGG
c.2769_2771delinsGGG (p.Pro923=)
c.1749_1751delinsGGG (p.Pro583=)
c.2469_2471delinsGGG (p.Pro823=)
c.2693-111_2693-109delinsGGG (n.2693-111_2693-109delinsGGG)
c.2619_2621delinsGGG (p.Pro873=)
c.2592_2594delinsGGG (p.Pro864=)
7g.150947800_150947802delinsGCTCA913188241KCNH2n.3602_3604delinsAGC
c.2769_2771delinsAGC (p.Gly924Ala)
c.1749_1751delinsAGC (p.Gly584Ala)
c.2469_2471delinsAGC (p.Gly824Ala)
c.2693-111_2693-109delinsAGC (n.2693-111_2693-109delinsAGC)
c.2619_2621delinsAGC (p.Gly874Ala)
c.2592_2594delinsAGC (p.Gly865Ala)
 ClinVar dbSNP
7g.150947801C>ACA169072631KCNH2n.3603G>T
c.2770G>T (p.Gly924Trp)
c.1750G>T (p.Gly584Trp)
c.2470G>T (p.Gly824Trp)
c.2693-110G>T (n.2693-110G>T)
c.2620G>T (p.Gly874Trp)
c.2593G>T (p.Gly865Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947801C=CA1752430317KCNH2n.3603G=
c.2770G= (p.Gly924=)
c.1750G= (p.Gly584=)
c.2470G= (p.Gly824=)
c.2693-110G= (n.2693-110G=)
c.2620G= (p.Gly874=)
c.2593G= (p.Gly865=)
7g.150947801C>GCA369853432KCNH2n.3603G>C
c.2770G>C (p.Gly924Arg)
c.1750G>C (p.Gly584Arg)
c.2470G>C (p.Gly824Arg)
c.2693-110G>C (n.2693-110G>C)
c.2620G>C (p.Gly874Arg)
c.2593G>C (p.Gly865Arg)
 dbSNP gnomAD v4
7g.150947801C>TCA007362KCNH2n.3603G>A
c.2770G>A (p.Gly924Arg)
c.1750G>A (p.Gly584Arg)
c.2470G>A (p.Gly824Arg)
c.2693-110G>A (n.2693-110G>A)
c.2620G>A (p.Gly874Arg)
c.2593G>A (p.Gly865Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947807_150947810dupCA1752430316KCNH2n.3600_3603dup
c.2767_2770dup (p.Gly924AlafsTer17)
c.1747_1750dup (p.Gly584AlafsTer17)
c.2467_2470dup (p.Gly824AlafsTer17)
c.2693-113_2693-110dup (n.2693-113_2693-110dup)
c.2617_2620dup (p.Gly874AlafsTer17)
c.2590_2593dup (p.Gly865AlafsTer17)
 ClinVar dbSNP
7g.150947802C>ACA458871208KCNH2n.3602G>T
c.2769G>T (p.Pro923=)
c.1749G>T (p.Pro583=)
c.2469G>T (p.Pro823=)
c.2693-111G>T (n.2693-111G>T)
c.2619G>T (p.Pro873=)
c.2592G>T (p.Pro864=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947802C=CA1752430328KCNH2n.3602G=
c.2769G= (p.Pro923=)
c.1749G= (p.Pro583=)
c.2469G= (p.Pro823=)
c.2693-111G= (n.2693-111G=)
c.2619G= (p.Pro873=)
c.2592G= (p.Pro864=)
7g.150947802C>GCA16612113KCNH2n.3602G>C
c.2769G>C (p.Pro923=)
c.1749G>C (p.Pro583=)
c.2469G>C (p.Pro823=)
c.2693-111G>C (n.2693-111G>C)
c.2619G>C (p.Pro873=)
c.2592G>C (p.Pro864=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947802C>TCA169072642KCNH2n.3602G>A
c.2769G>A (p.Pro923=)
c.1749G>A (p.Pro583=)
c.2469G>A (p.Pro823=)
c.2693-111G>A (n.2693-111G>A)
c.2619G>A (p.Pro873=)
c.2592G>A (p.Pro864=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947802_150947803delinsCGCA1752430336KCNH2n.3601_3602delinsCG
c.2768_2769delinsCG (p.Pro923=)
c.1748_1749delinsCG (p.Pro583=)
c.2468_2469delinsCG (p.Pro823=)
c.2693-112_2693-111delinsCG (n.2693-112_2693-111delinsCG)
c.2618_2619delinsCG (p.Pro873=)
c.2591_2592delinsCG (p.Pro864=)
7g.150947803G>ACA034729KCNH2n.3601C>T
c.2768C>T (p.Pro923Leu)
c.1748C>T (p.Pro583Leu)
c.2468C>T (p.Pro823Leu)
c.2693-112C>T (n.2693-112C>T)
c.2618C>T (p.Pro873Leu)
c.2591C>T (p.Pro864Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947803G>CCA369853433KCNH2n.3601C>G
c.2768C>G (p.Pro923Arg)
c.1748C>G (p.Pro583Arg)
c.2468C>G (p.Pro823Arg)
c.2693-112C>G (n.2693-112C>G)
c.2618C>G (p.Pro873Arg)
c.2591C>G (p.Pro864Arg)
7g.150947803G=CA1752430341KCNH2n.3601C=
c.2768C= (p.Pro923=)
c.1748C= (p.Pro583=)
c.2468C= (p.Pro823=)
c.2693-112C= (n.2693-112C=)
c.2618C= (p.Pro873=)
c.2591C= (p.Pro864=)
7g.150947803G>TCA369853434KCNH2n.3601C>A
c.2768C>A (p.Pro923Gln)
c.1748C>A (p.Pro583Gln)
c.2468C>A (p.Pro823Gln)
c.2693-112C>A (n.2693-112C>A)
c.2618C>A (p.Pro873Gln)
c.2591C>A (p.Pro864Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947804delCA007354KCNH2n.3601del
c.2768del (p.Pro923ArgfsTer?)
c.1748del (p.Pro583ArgfsTer?)
c.2468del (p.Pro823ArgfsTer?)
c.2693-112del (n.2693-112del)
c.2618del (p.Pro873ArgfsTer?)
c.2591del (p.Pro864ArgfsTer?)
 ClinVar dbSNP
7g.150947804G>ACA369853435KCNH2n.3600C>T
c.2767C>T (p.Pro923Ser)
c.1747C>T (p.Pro583Ser)
c.2467C>T (p.Pro823Ser)
c.2693-113C>T (n.2693-113C>T)
c.2617C>T (p.Pro873Ser)
c.2590C>T (p.Pro864Ser)
 ClinVar dbSNP gnomAD v4
7g.150947804G>CCA369853436KCNH2n.3600C>G
c.2767C>G (p.Pro923Ala)
c.1747C>G (p.Pro583Ala)
c.2467C>G (p.Pro823Ala)
c.2693-113C>G (n.2693-113C>G)
c.2617C>G (p.Pro873Ala)
c.2590C>G (p.Pro864Ala)
7g.150947804G=CA1752430344KCNH2n.3600C=
c.2767C= (p.Pro923=)
c.1747C= (p.Pro583=)
c.2467C= (p.Pro823=)
c.2693-113C= (n.2693-113C=)
c.2617C= (p.Pro873=)
c.2590C= (p.Pro864=)
7g.150947804G>TCA369853437KCNH2n.3600C>A
c.2767C>A (p.Pro923Thr)
c.1747C>A (p.Pro583Thr)
c.2467C>A (p.Pro823Thr)
c.2693-113C>A (n.2693-113C>A)
c.2617C>A (p.Pro873Thr)
c.2590C>A (p.Pro864Thr)
 gnomAD v4
7g.150947804_150947805delinsGCCA1752430343KCNH2n.3599_3600delinsGC
c.2766_2767delinsGC (p.Arg922=)
c.1746_1747delinsGC (p.Arg582=)
c.2466_2467delinsGC (p.Arg822=)
c.2693-114_2693-113delinsGC (n.2693-114_2693-113delinsGC)
c.2616_2617delinsGC (p.Arg872=)
c.2589_2590delinsGC (p.Arg863=)
7g.150947805C>ACA458871217KCNH2n.3599G>T
c.2766G>T (p.Arg922=)
c.1746G>T (p.Arg582=)
c.2466G>T (p.Arg822=)
c.2693-114G>T (n.2693-114G>T)
c.2616G>T (p.Arg872=)
c.2589G>T (p.Arg863=)
 gnomAD v4
7g.150947805C=CA1752430349KCNH2n.3599G=
c.2766G= (p.Arg922=)
c.1746G= (p.Arg582=)
c.2466G= (p.Arg822=)
c.2693-114G= (n.2693-114G=)
c.2616G= (p.Arg872=)
c.2589G= (p.Arg863=)
7g.150947805C>GCA458871219KCNH2n.3599G>C
c.2766G>C (p.Arg922=)
c.1746G>C (p.Arg582=)
c.2466G>C (p.Arg822=)
c.2693-114G>C (n.2693-114G>C)
c.2616G>C (p.Arg872=)
c.2589G>C (p.Arg863=)
7g.150947805C>TCA458871220KCNH2n.3599G>A
c.2766G>A (p.Arg922=)
c.1746G>A (p.Arg582=)
c.2466G>A (p.Arg822=)
c.2693-114G>A (n.2693-114G>A)
c.2616G>A (p.Arg872=)
c.2589G>A (p.Arg863=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947806delCA658683501KCNH2n.3599del
c.2766del (p.Pro923ArgfsTer?)
c.1746del (p.Pro583ArgfsTer?)
c.2466del (p.Pro823ArgfsTer?)
c.2693-114del (n.2693-114del)
c.2616del (p.Pro873ArgfsTer?)
c.2589del (p.Pro864ArgfsTer?)
 ClinVar dbSNP
7g.150947807_150947825delCA2697557665KCNH2n.3581_3599del
c.2748_2766del (p.Pro917ArgfsTer?)
c.1728_1746del (p.Pro577ArgfsTer?)
c.2448_2466del (p.Pro817ArgfsTer?)
c.2693-132_2693-114del (n.2693-132_2693-114del)
c.2598_2616del (p.Pro867ArgfsTer?)
c.2571_2589del (p.Pro858ArgfsTer?)
 ClinVar
7g.150947813_150947847delCA658761319KCNH2n.3565_3599del
c.2732_2766del (p.Gly911AlafsTer17)
c.1712_1746del (p.Gly571AlafsTer17)
c.2432_2466del (p.Gly811AlafsTer17)
c.2693-148_2693-114del (n.2693-148_2693-114del)
c.2582_2616del (p.Gly861AlafsTer17)
c.2555_2589del (p.Gly852AlafsTer17)
7g.150947806C>ACA369853438KCNH2n.3598G>T
c.2765G>T (p.Arg922Leu)
c.1745G>T (p.Arg582Leu)
c.2465G>T (p.Arg822Leu)
c.2693-115G>T (n.2693-115G>T)
c.2615G>T (p.Arg872Leu)
c.2588G>T (p.Arg863Leu)
 ClinVar dbSNP gnomAD v4
7g.150947806C=CA1752430359KCNH2n.3598G=
c.2765G= (p.Arg922=)
c.1745G= (p.Arg582=)
c.2465G= (p.Arg822=)
c.2693-115G= (n.2693-115G=)
c.2615G= (p.Arg872=)
c.2588G= (p.Arg863=)
7g.150947806C>GCA369853439KCNH2n.3598G>C
c.2765G>C (p.Arg922Pro)
c.1745G>C (p.Arg582Pro)
c.2465G>C (p.Arg822Pro)
c.2693-115G>C (n.2693-115G>C)
c.2615G>C (p.Arg872Pro)
c.2588G>C (p.Arg863Pro)
 ClinVar dbSNP gnomAD v4
7g.150947806C>TCA007347KCNH2n.3598G>A
c.2765G>A (p.Arg922Gln)
c.1745G>A (p.Arg582Gln)
c.2465G>A (p.Arg822Gln)
c.2693-115G>A (n.2693-115G>A)
c.2615G>A (p.Arg872Gln)
c.2588G>A (p.Arg863Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947806_150947807delinsCGCA1752430356KCNH2n.3597_3598delinsCG
c.2764_2765delinsCG (p.Arg922=)
c.1744_1745delinsCG (p.Arg582=)
c.2464_2465delinsCG (p.Arg822=)
c.2693-116_2693-115delinsCG (n.2693-116_2693-115delinsCG)
c.2614_2615delinsCG (p.Arg872=)
c.2587_2588delinsCG (p.Arg863=)
7g.150947807G>ACA007332KCNH2n.3597C>T
c.2764C>T (p.Arg922Trp)
c.1744C>T (p.Arg582Trp)
c.2464C>T (p.Arg822Trp)
c.2693-116C>T (n.2693-116C>T)
c.2614C>T (p.Arg872Trp)
c.2587C>T (p.Arg863Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947807G>CCA369853440KCNH2n.3597C>G
c.2764C>G (p.Arg922Gly)
c.1744C>G (p.Arg582Gly)
c.2464C>G (p.Arg822Gly)
c.2693-116C>G (n.2693-116C>G)
c.2614C>G (p.Arg872Gly)
c.2587C>G (p.Arg863Gly)
 gnomAD v4
7g.150947807G=CA1752430367KCNH2n.3597C=
c.2764C= (p.Arg922=)
c.1744C= (p.Arg582=)
c.2464C= (p.Arg822=)
c.2693-116C= (n.2693-116C=)
c.2614C= (p.Arg872=)
c.2587C= (p.Arg863=)
7g.150947807G>TCA458871221KCNH2n.3597C>A
c.2764C>A (p.Arg922=)
c.1744C>A (p.Arg582=)
c.2464C>A (p.Arg822=)
c.2693-116C>A (n.2693-116C>A)
c.2614C>A (p.Arg872=)
c.2587C>A (p.Arg863=)
 gnomAD v4
7g.150947808delCA007339KCNH2n.3597del
c.2764del (p.Arg922GlyfsTer?)
c.1744del (p.Arg582GlyfsTer?)
c.2464del (p.Arg822GlyfsTer?)
c.2693-116del (n.2693-116del)
c.2614del (p.Arg872GlyfsTer?)
c.2587del (p.Arg863GlyfsTer?)
 ClinVar dbSNP
7g.150947808G>ACA458871225KCNH2n.3596C>T
c.2763C>T (p.Gly921=)
c.1743C>T (p.Gly581=)
c.2463C>T (p.Gly821=)
c.2693-117C>T (n.2693-117C>T)
c.2613C>T (p.Gly871=)
c.2586C>T (p.Gly862=)
 gnomAD v4
7g.150947808G>CCA458871223KCNH2n.3596C>G
c.2763C>G (p.Gly921=)
c.1743C>G (p.Gly581=)
c.2463C>G (p.Gly821=)
c.2693-117C>G (n.2693-117C>G)
c.2613C>G (p.Gly871=)
c.2586C>G (p.Gly862=)
7g.150947808G>TCA458871224KCNH2n.3596C>A
c.2763C>A (p.Gly921=)
c.1743C>A (p.Gly581=)
c.2463C>A (p.Gly821=)
c.2693-117C>A (n.2693-117C>A)
c.2613C>A (p.Gly871=)
c.2586C>A (p.Gly862=)
 ClinVar dbSNP gnomAD v4
7g.150947808_150947809delinsGCCA1752430369KCNH2n.3595_3596delinsGC
c.2762_2763delinsGC (p.Gly921=)
c.1742_1743delinsGC (p.Gly581=)
c.2462_2463delinsGC (p.Gly821=)
c.2693-118_2693-117delinsGC (n.2693-118_2693-117delinsGC)
c.2612_2613delinsGC (p.Gly871=)
c.2585_2586delinsGC (p.Gly862=)
7g.150947813_150947831delCA1139771294KCNH2n.3578_3596del
c.2745_2763del (p.Pro917ArgfsTer?)
c.1725_1743del (p.Pro577ArgfsTer?)
c.2445_2463del (p.Pro817ArgfsTer?)
c.2693-135_2693-117del (n.2693-135_2693-117del)
c.2595_2613del (p.Pro867ArgfsTer?)
c.2568_2586del (p.Pro858ArgfsTer?)
7g.150947809C>ACA369853441KCNH2n.3595G>T
c.2762G>T (p.Gly921Val)
c.1742G>T (p.Gly581Val)
c.2462G>T (p.Gly821Val)
c.2693-118G>T (n.2693-118G>T)
c.2612G>T (p.Gly871Val)
c.2585G>T (p.Gly862Val)
 gnomAD v4
7g.150947809C=CA1752430372KCNH2n.3595G=
c.2762G= (p.Gly921=)
c.1742G= (p.Gly581=)
c.2462G= (p.Gly821=)
c.2693-118G= (n.2693-118G=)
c.2612G= (p.Gly871=)
c.2585G= (p.Gly862=)
7g.150947809C>GCA369853443KCNH2n.3595G>C
c.2762G>C (p.Gly921Ala)
c.1742G>C (p.Gly581Ala)
c.2462G>C (p.Gly821Ala)
c.2693-118G>C (n.2693-118G>C)
c.2612G>C (p.Gly871Ala)
c.2585G>C (p.Gly862Ala)
7g.150947809C>TCA369853442KCNH2n.3595G>A
c.2762G>A (p.Gly921Asp)
c.1742G>A (p.Gly581Asp)
c.2462G>A (p.Gly821Asp)
c.2693-118G>A (n.2693-118G>A)
c.2612G>A (p.Gly871Asp)
c.2585G>A (p.Gly862Asp)
 dbSNP gnomAD v2 gnomAD v4
7g.150947812dupCA2580077746KCNH2n.3595dup
c.2762dup (p.Arg922ProfsTer18)
c.1742dup (p.Arg582ProfsTer18)
c.2462dup (p.Arg822ProfsTer18)
c.2693-118dup (n.2693-118dup)
c.2612dup (p.Arg872ProfsTer18)
c.2585dup (p.Arg863ProfsTer18)
 ClinVar
7g.150947812delCA658761320KCNH2n.3595del
c.2762del (p.Gly921AlafsTer?)
c.1742del (p.Gly581AlafsTer?)
c.2462del (p.Gly821AlafsTer?)
c.2693-118del (n.2693-118del)
c.2612del (p.Gly871AlafsTer?)
c.2585del (p.Gly862AlafsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947810C>ACA369853444KCNH2n.3594G>T
c.2761G>T (p.Gly921Cys)
c.1741G>T (p.Gly581Cys)
c.2461G>T (p.Gly821Cys)
c.2693-119G>T (n.2693-119G>T)
c.2611G>T (p.Gly871Cys)
c.2584G>T (p.Gly862Cys)
7g.150947810C>GCA369853445KCNH2n.3594G>C
c.2761G>C (p.Gly921Arg)
c.1741G>C (p.Gly581Arg)
c.2461G>C (p.Gly821Arg)
c.2693-119G>C (n.2693-119G>C)
c.2611G>C (p.Gly871Arg)
c.2584G>C (p.Gly862Arg)
7g.150947810C>TCA369853446KCNH2n.3594G>A
c.2761G>A (p.Gly921Ser)
c.1741G>A (p.Gly581Ser)
c.2461G>A (p.Gly821Ser)
c.2693-119G>A (n.2693-119G>A)
c.2611G>A (p.Gly871Ser)
c.2584G>A (p.Gly862Ser)
7g.150947811C>ACA458871230KCNH2n.3593G>T
c.2760G>T (p.Arg920=)
c.1740G>T (p.Arg580=)
c.2460G>T (p.Arg820=)
c.2693-120G>T (n.2693-120G>T)
c.2610G>T (p.Arg870=)
c.2583G>T (p.Arg861=)
7g.150947811C=CA1752430377KCNH2n.3593G=
c.2760G= (p.Arg920=)
c.1740G= (p.Arg580=)
c.2460G= (p.Arg820=)
c.2693-120G= (n.2693-120G=)
c.2610G= (p.Arg870=)
c.2583G= (p.Arg861=)
7g.150947811C>GCA458871231KCNH2n.3593G>C
c.2760G>C (p.Arg920=)
c.1740G>C (p.Arg580=)
c.2460G>C (p.Arg820=)
c.2693-120G>C (n.2693-120G>C)
c.2610G>C (p.Arg870=)
c.2583G>C (p.Arg861=)
 ClinVar dbSNP gnomAD v4
7g.150947811C>TCA458871232KCNH2n.3593G>A
c.2760G>A (p.Arg920=)
c.1740G>A (p.Arg580=)
c.2460G>A (p.Arg820=)
c.2693-120G>A (n.2693-120G>A)
c.2610G>A (p.Arg870=)
c.2583G>A (p.Arg861=)
7g.150947812C>ACA369853447KCNH2n.3592G>T
c.2759G>T (p.Arg920Leu)
c.1739G>T (p.Arg580Leu)
c.2459G>T (p.Arg820Leu)
c.2693-121G>T (n.2693-121G>T)
c.2609G>T (p.Arg870Leu)
c.2582G>T (p.Arg861Leu)
7g.150947812C=CA1752430385KCNH2n.3592G=
c.2759G= (p.Arg920=)
c.1739G= (p.Arg580=)
c.2459G= (p.Arg820=)
c.2693-121G= (n.2693-121G=)
c.2609G= (p.Arg870=)
c.2582G= (p.Arg861=)
7g.150947812C>GCA369853448KCNH2n.3592G>C
c.2759G>C (p.Arg920Pro)
c.1739G>C (p.Arg580Pro)
c.2459G>C (p.Arg820Pro)
c.2693-121G>C (n.2693-121G>C)
c.2609G>C (p.Arg870Pro)
c.2582G>C (p.Arg861Pro)
 gnomAD v4
7g.150947812C>TCA007319KCNH2n.3592G>A
c.2759G>A (p.Arg920Gln)
c.1739G>A (p.Arg580Gln)
c.2459G>A (p.Arg820Gln)
c.2693-121G>A (n.2693-121G>A)
c.2609G>A (p.Arg870Gln)
c.2582G>A (p.Arg861Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947813G>ACA007304KCNH2n.3591C>T
c.2758C>T (p.Arg920Trp)
c.1738C>T (p.Arg580Trp)
c.2458C>T (p.Arg820Trp)
c.2693-122C>T (n.2693-122C>T)
c.2608C>T (p.Arg870Trp)
c.2581C>T (p.Arg861Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947813G>CCA007296KCNH2n.3591C>G
c.2758C>G (p.Arg920Gly)
c.1738C>G (p.Arg580Gly)
c.2458C>G (p.Arg820Gly)
c.2693-122C>G (n.2693-122C>G)
c.2608C>G (p.Arg870Gly)
c.2581C>G (p.Arg861Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947813G=CA1752430393KCNH2n.3591C=
c.2758C= (p.Arg920=)
c.1738C= (p.Arg580=)
c.2458C= (p.Arg820=)
c.2693-122C= (n.2693-122C=)
c.2608C= (p.Arg870=)
c.2581C= (p.Arg861=)
7g.150947813G>TCA458871234KCNH2n.3591C>A
c.2758C>A (p.Arg920=)
c.1738C>A (p.Arg580=)
c.2458C>A (p.Arg820=)
c.2693-122C>A (n.2693-122C>A)
c.2608C>A (p.Arg870=)
c.2581C>A (p.Arg861=)
 gnomAD v4
7g.150947814G>ACA458871235KCNH2n.3590C>T
c.2757C>T (p.Ser919=)
c.1737C>T (p.Ser579=)
c.2457C>T (p.Ser819=)
c.2693-123C>T (n.2693-123C>T)
c.2607C>T (p.Ser869=)
c.2580C>T (p.Ser860=)
 ClinVar dbSNP gnomAD v4
7g.150947814G>CCA369853449KCNH2n.3590C>G
c.2757C>G (p.Ser919Arg)
c.1737C>G (p.Ser579Arg)
c.2457C>G (p.Ser819Arg)
c.2693-123C>G (n.2693-123C>G)
c.2607C>G (p.Ser869Arg)
c.2580C>G (p.Ser860Arg)
7g.150947814G>TCA369853450KCNH2n.3590C>A
c.2757C>A (p.Ser919Arg)
c.1737C>A (p.Ser579Arg)
c.2457C>A (p.Ser819Arg)
c.2693-123C>A (n.2693-123C>A)
c.2607C>A (p.Ser869Arg)
c.2580C>A (p.Ser860Arg)
 gnomAD v4
7g.150947815C>ACA369853451KCNH2n.3589G>T
c.2756G>T (p.Ser919Ile)
c.1736G>T (p.Ser579Ile)
c.2456G>T (p.Ser819Ile)
c.2693-124G>T (n.2693-124G>T)
c.2606G>T (p.Ser869Ile)
c.2579G>T (p.Ser860Ile)
 gnomAD v4
7g.150947815C>GCA369853452KCNH2n.3589G>C
c.2756G>C (p.Ser919Thr)
c.1736G>C (p.Ser579Thr)
c.2456G>C (p.Ser819Thr)
c.2693-124G>C (n.2693-124G>C)
c.2606G>C (p.Ser869Thr)
c.2579G>C (p.Ser860Thr)
7g.150947815C>TCA369853453KCNH2n.3589G>A
c.2756G>A (p.Ser919Asn)
c.1736G>A (p.Ser579Asn)
c.2456G>A (p.Ser819Asn)
c.2693-124G>A (n.2693-124G>A)
c.2606G>A (p.Ser869Asn)
c.2579G>A (p.Ser860Asn)
 gnomAD v4
7g.150947816_150947841dupCA2573141852KCNH2n.3564_3589dup
c.2731_2756dup (p.Ser919ArgfsTer?)
c.1711_1736dup (p.Ser579ArgfsTer?)
c.2431_2456dup (p.Ser819ArgfsTer?)
c.2693-149_2693-124dup (n.2693-149_2693-124dup)
c.2581_2606dup (p.Ser869ArgfsTer?)
c.2554_2579dup (p.Ser860ArgfsTer?)
 ClinVar dbSNP
7g.150947816T>ACA369853456KCNH2n.3588A>T
c.2755A>T (p.Ser919Cys)
c.1735A>T (p.Ser579Cys)
c.2455A>T (p.Ser819Cys)
c.2693-125A>T (n.2693-125A>T)
c.2605A>T (p.Ser869Cys)
c.2578A>T (p.Ser860Cys)
7g.150947816T>CCA369853455KCNH2n.3588A>G
c.2755A>G (p.Ser919Gly)
c.1735A>G (p.Ser579Gly)
c.2455A>G (p.Ser819Gly)
c.2693-125A>G (n.2693-125A>G)
c.2605A>G (p.Ser869Gly)
c.2578A>G (p.Ser860Gly)
 gnomAD v4
7g.150947816T>GCA369853454KCNH2n.3588A>C
c.2755A>C (p.Ser919Arg)
c.1735A>C (p.Ser579Arg)
c.2455A>C (p.Ser819Arg)
c.2693-125A>C (n.2693-125A>C)
c.2605A>C (p.Ser869Arg)
c.2578A>C (p.Ser860Arg)
7g.150947817A>CCA369853457KCNH2n.3587T>G
c.2754T>G (p.Ser918Arg)
c.1734T>G (p.Ser578Arg)
c.2454T>G (p.Ser818Arg)
c.2693-126T>G (n.2693-126T>G)
c.2604T>G (p.Ser868Arg)
c.2577T>G (p.Ser859Arg)
7g.150947817A>GCA458871241KCNH2n.3587T>C
c.2754T>C (p.Ser918=)
c.1734T>C (p.Ser578=)
c.2454T>C (p.Ser818=)
c.2693-126T>C (n.2693-126T>C)
c.2604T>C (p.Ser868=)
c.2577T>C (p.Ser859=)
 gnomAD v4
7g.150947817A>TCA369853458KCNH2n.3587T>A
c.2754T>A (p.Ser918Arg)
c.1734T>A (p.Ser578Arg)
c.2454T>A (p.Ser818Arg)
c.2693-126T>A (n.2693-126T>A)
c.2604T>A (p.Ser868Arg)
c.2577T>A (p.Ser859Arg)
7g.150947817_150947818insATCGGCCCTGCCCCCGCCCACA2695208806KCNH2n.3587_3588insGGGCGGGGGCAGGGCCGATT
c.2754_2755insGGGCGGGGGCAGGGCCGATT (p.Ser919GlyfsTer?)
c.1734_1735insGGGCGGGGGCAGGGCCGATT (p.Ser579GlyfsTer?)
c.2454_2455insGGGCGGGGGCAGGGCCGATT (p.Ser819GlyfsTer?)
c.2693-126_2693-125insGGGCGGGGGCAGGGCCGATT (n.2693-126_2693-125insGGGCGGGGGCAGGGCCGATT)
c.2604_2605insGGGCGGGGGCAGGGCCGATT (p.Ser869GlyfsTer?)
c.2577_2578insGGGCGGGGGCAGGGCCGATT (p.Ser860GlyfsTer?)
7g.150947818C>ACA369853459KCNH2n.3586G>T
c.2753G>T (p.Ser918Ile)
c.1733G>T (p.Ser578Ile)
c.2453G>T (p.Ser818Ile)
c.2693-127G>T (n.2693-127G>T)
c.2603G>T (p.Ser868Ile)
c.2576G>T (p.Ser859Ile)
7g.150947818C=CA1752430399KCNH2n.3586G=
c.2753G= (p.Ser918=)
c.1733G= (p.Ser578=)
c.2453G= (p.Ser818=)
c.2693-127G= (n.2693-127G=)
c.2603G= (p.Ser868=)
c.2576G= (p.Ser859=)
7g.150947818C>GCA369853460KCNH2n.3586G>C
c.2753G>C (p.Ser918Thr)
c.1733G>C (p.Ser578Thr)
c.2453G>C (p.Ser818Thr)
c.2693-127G>C (n.2693-127G>C)
c.2603G>C (p.Ser868Thr)
c.2576G>C (p.Ser859Thr)
7g.150947818C>TCA369853461KCNH2n.3586G>A
c.2753G>A (p.Ser918Asn)
c.1733G>A (p.Ser578Asn)
c.2453G>A (p.Ser818Asn)
c.2693-127G>A (n.2693-127G>A)
c.2603G>A (p.Ser868Asn)
c.2576G>A (p.Ser859Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947819T>ACA369853462KCNH2n.3585A>T
c.2752A>T (p.Ser918Cys)
c.1732A>T (p.Ser578Cys)
c.2452A>T (p.Ser818Cys)
c.2693-128A>T (n.2693-128A>T)
c.2602A>T (p.Ser868Cys)
c.2575A>T (p.Ser859Cys)
7g.150947819T>CCA369853463KCNH2n.3585A>G
c.2752A>G (p.Ser918Gly)
c.1732A>G (p.Ser578Gly)
c.2452A>G (p.Ser818Gly)
c.2693-128A>G (n.2693-128A>G)
c.2602A>G (p.Ser868Gly)
c.2575A>G (p.Ser859Gly)
7g.150947819T>GCA369853464KCNH2n.3585A>C
c.2752A>C (p.Ser918Arg)
c.1732A>C (p.Ser578Arg)
c.2452A>C (p.Ser818Arg)
c.2693-128A>C (n.2693-128A>C)
c.2602A>C (p.Ser868Arg)
c.2575A>C (p.Ser859Arg)
7g.150947820C>ACA458871244KCNH2n.3584G>T
c.2751G>T (p.Pro917=)
c.1731G>T (p.Pro577=)
c.2451G>T (p.Pro817=)
c.2693-129G>T (n.2693-129G>T)
c.2601G>T (p.Pro867=)
c.2574G>T (p.Pro858=)
 gnomAD v4
7g.150947820C=CA1752430403KCNH2n.3584G=
c.2751G= (p.Pro917=)
c.1731G= (p.Pro577=)
c.2451G= (p.Pro817=)
c.2693-129G= (n.2693-129G=)
c.2601G= (p.Pro867=)
c.2574G= (p.Pro858=)
7g.150947820C>GCA458871245KCNH2n.3584G>C
c.2751G>C (p.Pro917=)
c.1731G>C (p.Pro577=)
c.2451G>C (p.Pro817=)
c.2693-129G>C (n.2693-129G>C)
c.2601G>C (p.Pro867=)
c.2574G>C (p.Pro858=)
7g.150947820C>TCA458871246KCNH2n.3584G>A
c.2751G>A (p.Pro917=)
c.1731G>A (p.Pro577=)
c.2451G>A (p.Pro817=)
c.2693-129G>A (n.2693-129G>A)
c.2601G>A (p.Pro867=)
c.2574G>A (p.Pro858=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947826_150947841delCA2580077747KCNH2n.3569_3584del
c.2736_2751del (p.Ala913ValfsTer?)
c.1716_1731del (p.Ala573ValfsTer?)
c.2436_2451del (p.Ala813ValfsTer?)
c.2693-144_2693-129del (n.2693-144_2693-129del)
c.2586_2601del (p.Ala863ValfsTer?)
c.2559_2574del (p.Ala854ValfsTer?)
 ClinVar
7g.150947821G>ACA007286KCNH2n.3583C>T
c.2750C>T (p.Pro917Leu)
c.1730C>T (p.Pro577Leu)
c.2450C>T (p.Pro817Leu)
c.2693-130C>T (n.2693-130C>T)
c.2600C>T (p.Pro867Leu)
c.2573C>T (p.Pro858Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947821G>CCA369853465KCNH2n.3583C>G
c.2750C>G (p.Pro917Arg)
c.1730C>G (p.Pro577Arg)
c.2450C>G (p.Pro817Arg)
c.2693-130C>G (n.2693-130C>G)
c.2600C>G (p.Pro867Arg)
c.2573C>G (p.Pro858Arg)
 dbSNP gnomAD v4
7g.150947821G=CA1752430408KCNH2n.3583C=
c.2750C= (p.Pro917=)
c.1730C= (p.Pro577=)
c.2450C= (p.Pro817=)
c.2693-130C= (n.2693-130C=)
c.2600C= (p.Pro867=)
c.2573C= (p.Pro858=)
7g.150947821G>TCA369853466KCNH2n.3583C>A
c.2750C>A (p.Pro917Gln)
c.1730C>A (p.Pro577Gln)
c.2450C>A (p.Pro817Gln)
c.2693-130C>A (n.2693-130C>A)
c.2600C>A (p.Pro867Gln)
c.2573C>A (p.Pro858Gln)
 gnomAD v4
7g.150947822G>ACA369853467KCNH2n.3582C>T
c.2749C>T (p.Pro917Ser)
c.1729C>T (p.Pro577Ser)
c.2449C>T (p.Pro817Ser)
c.2693-131C>T (n.2693-131C>T)
c.2599C>T (p.Pro867Ser)
c.2572C>T (p.Pro858Ser)
 gnomAD v4
7g.150947822G>CCA369853468KCNH2n.3582C>G
c.2749C>G (p.Pro917Ala)
c.1729C>G (p.Pro577Ala)
c.2449C>G (p.Pro817Ala)
c.2693-131C>G (n.2693-131C>G)
c.2599C>G (p.Pro867Ala)
c.2572C>G (p.Pro858Ala)
7g.150947822G=CA1752430409KCNH2n.3582C=
c.2749C= (p.Pro917=)
c.1729C= (p.Pro577=)
c.2449C= (p.Pro817=)
c.2693-131C= (n.2693-131C=)
c.2599C= (p.Pro867=)
c.2572C= (p.Pro858=)
7g.150947822G>TCA369853469KCNH2n.3582C>A
c.2749C>A (p.Pro917Thr)
c.1729C>A (p.Pro577Thr)
c.2449C>A (p.Pro817Thr)
c.2693-131C>A (n.2693-131C>A)
c.2599C>A (p.Pro867Thr)
c.2572C>A (p.Pro858Thr)
 gnomAD v4
7g.150947823C>ACA458871251KCNH2n.3581G>T
c.2748G>T (p.Gly916=)
c.1728G>T (p.Gly576=)
c.2448G>T (p.Gly816=)
c.2693-132G>T (n.2693-132G>T)
c.2598G>T (p.Gly866=)
c.2571G>T (p.Gly857=)
7g.150947823C>GCA458871253KCNH2n.3581G>C
c.2748G>C (p.Gly916=)
c.1728G>C (p.Gly576=)
c.2448G>C (p.Gly816=)
c.2693-132G>C (n.2693-132G>C)
c.2598G>C (p.Gly866=)
c.2571G>C (p.Gly857=)
7g.150947823C>TCA458871256KCNH2n.3581G>A
c.2748G>A (p.Gly916=)
c.1728G>A (p.Gly576=)
c.2448G>A (p.Gly816=)
c.2693-132G>A (n.2693-132G>A)
c.2598G>A (p.Gly866=)
c.2571G>A (p.Gly857=)
 ClinVar gnomAD v4
7g.150947824_150947874dupCA1752430410KCNH2n.3531_3581dup
c.2698_2748dup (p.Gly916_Pro917insGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGly)
c.1678_1728dup (p.Gly576_Pro577insGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGly)
c.2398_2448dup (p.Gly816_Pro817insGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGly)
c.2693-182_2693-132dup (n.2693-182_2693-132dup)
c.2548_2598dup (p.Gly866_Pro867insGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGly)
c.2521_2571dup (p.Gly857_Pro858insGluGlnProGlyGluValSerAlaLeuGlyProGlyArgAlaGlyAlaGly)
 ClinVar dbSNP
7g.150947824C>ACA369853471KCNH2n.3580G>T
c.2747G>T (p.Gly916Val)
c.1727G>T (p.Gly576Val)
c.2447G>T (p.Gly816Val)
c.2693-133G>T (n.2693-133G>T)
c.2597G>T (p.Gly866Val)
c.2570G>T (p.Gly857Val)
7g.150947824C>GCA369853472KCNH2n.3580G>C
c.2747G>C (p.Gly916Ala)
c.1727G>C (p.Gly576Ala)
c.2447G>C (p.Gly816Ala)
c.2693-133G>C (n.2693-133G>C)
c.2597G>C (p.Gly866Ala)
c.2570G>C (p.Gly857Ala)
7g.150947824C>TCA369853470KCNH2n.3580G>A
c.2747G>A (p.Gly916Glu)
c.1727G>A (p.Gly576Glu)
c.2447G>A (p.Gly816Glu)
c.2693-133G>A (n.2693-133G>A)
c.2597G>A (p.Gly866Glu)
c.2570G>A (p.Gly857Glu)
 gnomAD v4
7g.150947825C>ACA369853473KCNH2n.3579G>T
c.2746G>T (p.Gly916Trp)
c.1726G>T (p.Gly576Trp)
c.2446G>T (p.Gly816Trp)
c.2693-134G>T (n.2693-134G>T)
c.2596G>T (p.Gly866Trp)
c.2569G>T (p.Gly857Trp)
7g.150947825C=CA1752430413KCNH2n.3579G=
c.2746G= (p.Gly916=)
c.1726G= (p.Gly576=)
c.2446G= (p.Gly816=)
c.2693-134G= (n.2693-134G=)
c.2596G= (p.Gly866=)
c.2569G= (p.Gly857=)
7g.150947825C>GCA369853474KCNH2n.3579G>C
c.2746G>C (p.Gly916Arg)
c.1726G>C (p.Gly576Arg)
c.2446G>C (p.Gly816Arg)
c.2693-134G>C (n.2693-134G>C)
c.2596G>C (p.Gly866Arg)
c.2569G>C (p.Gly857Arg)
7g.150947825C>TCA369853475KCNH2n.3579G>A
c.2746G>A (p.Gly916Arg)
c.1726G>A (p.Gly576Arg)
c.2446G>A (p.Gly816Arg)
c.2693-134G>A (n.2693-134G>A)
c.2596G>A (p.Gly866Arg)
c.2569G>A (p.Gly857Arg)
 ClinVar dbSNP
7g.150947826T>ACA458870794KCNH2n.3578A>T
c.2745A>T (p.Ala915=)
c.1725A>T (p.Ala575=)
c.2445A>T (p.Ala815=)
c.2693-135A>T (n.2693-135A>T)
c.2595A>T (p.Ala865=)
c.2568A>T (p.Ala856=)
7g.150947826T>CCA458870795KCNH2n.3578A>G
c.2745A>G (p.Ala915=)
c.1725A>G (p.Ala575=)
c.2445A>G (p.Ala815=)
c.2693-135A>G (n.2693-135A>G)
c.2595A>G (p.Ala865=)
c.2568A>G (p.Ala856=)
7g.150947826T>GCA458870796KCNH2n.3578A>C
c.2745A>C (p.Ala915=)
c.1725A>C (p.Ala575=)
c.2445A>C (p.Ala815=)
c.2693-135A>C (n.2693-135A>C)
c.2595A>C (p.Ala865=)
c.2568A>C (p.Ala856=)
 gnomAD v4
7g.150947827G>ACA007271KCNH2n.3577C>T
c.2744C>T (p.Ala915Val)
c.1724C>T (p.Ala575Val)
c.2444C>T (p.Ala815Val)
c.2693-136C>T (n.2693-136C>T)
c.2594C>T (p.Ala865Val)
c.2567C>T (p.Ala856Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947827G>CCA369853476KCNH2n.3577C>G
c.2744C>G (p.Ala915Gly)
c.1724C>G (p.Ala575Gly)
c.2444C>G (p.Ala815Gly)
c.2693-136C>G (n.2693-136C>G)
c.2594C>G (p.Ala865Gly)
c.2567C>G (p.Ala856Gly)
7g.150947827G=CA1752430414KCNH2n.3577C=
c.2744C= (p.Ala915=)
c.1724C= (p.Ala575=)
c.2444C= (p.Ala815=)
c.2693-136C= (n.2693-136C=)
c.2594C= (p.Ala865=)
c.2567C= (p.Ala856=)
7g.150947827G>TCA369853477KCNH2n.3577C>A
c.2744C>A (p.Ala915Glu)
c.1724C>A (p.Ala575Glu)
c.2444C>A (p.Ala815Glu)
c.2693-136C>A (n.2693-136C>A)
c.2594C>A (p.Ala865Glu)
c.2567C>A (p.Ala856Glu)
 gnomAD v4
7g.150947832_150947847delCA2580077748KCNH2n.3562_3577del
c.2729_2744del (p.Pro910GlnfsTer?)
c.1709_1724del (p.Pro570GlnfsTer?)
c.2429_2444del (p.Pro810GlnfsTer?)
c.2693-151_2693-136del (n.2693-151_2693-136del)
c.2579_2594del (p.Pro860GlnfsTer?)
c.2552_2567del (p.Pro851GlnfsTer?)
 ClinVar
7g.150947828C>ACA369853478KCNH2n.3576G>T
c.2743G>T (p.Ala915Ser)
c.1723G>T (p.Ala575Ser)
c.2443G>T (p.Ala815Ser)
c.2693-137G>T (n.2693-137G>T)
c.2593G>T (p.Ala865Ser)
c.2566G>T (p.Ala856Ser)
7g.150947828C>GCA369853479KCNH2n.3576G>C
c.2743G>C (p.Ala915Pro)
c.1723G>C (p.Ala575Pro)
c.2443G>C (p.Ala815Pro)
c.2693-137G>C (n.2693-137G>C)
c.2593G>C (p.Ala865Pro)
c.2566G>C (p.Ala856Pro)
 gnomAD v4
7g.150947828C>TCA369853480KCNH2n.3576G>A
c.2743G>A (p.Ala915Thr)
c.1723G>A (p.Ala575Thr)
c.2443G>A (p.Ala815Thr)
c.2693-137G>A (n.2693-137G>A)
c.2593G>A (p.Ala865Thr)
c.2566G>A (p.Ala856Thr)
 ClinVar gnomAD v4
7g.150947832dupCA2778425052KCNH2n.3576dup
c.2743dup (p.Ala915GlyfsTer5)
c.1723dup (p.Ala575GlyfsTer5)
c.2443dup (p.Ala815GlyfsTer5)
c.2693-137dup (n.2693-137dup)
c.2593dup (p.Ala865GlyfsTer5)
c.2566dup (p.Ala856GlyfsTer5)
7g.150947832delCA2573141853KCNH2n.3576del
c.2743del (p.Ala915GlnfsTer?)
c.1723del (p.Ala575GlnfsTer?)
c.2443del (p.Ala815GlnfsTer?)
c.2693-137del (n.2693-137del)
c.2593del (p.Ala865GlnfsTer?)
c.2566del (p.Ala856GlnfsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947829C>ACA458870801KCNH2n.3575G>T
c.2742G>T (p.Gly914=)
c.1722G>T (p.Gly574=)
c.2442G>T (p.Gly814=)
c.2693-138G>T (n.2693-138G>T)
c.2592G>T (p.Gly864=)
c.2565G>T (p.Gly855=)
7g.150947829C=CA1752430419KCNH2n.3575G=
c.2742G= (p.Gly914=)
c.1722G= (p.Gly574=)
c.2442G= (p.Gly814=)
c.2693-138G= (n.2693-138G=)
c.2592G= (p.Gly864=)
c.2565G= (p.Gly855=)
7g.150947829C>GCA458870800KCNH2n.3575G>C
c.2742G>C (p.Gly914=)
c.1722G>C (p.Gly574=)
c.2442G>C (p.Gly814=)
c.2693-138G>C (n.2693-138G>C)
c.2592G>C (p.Gly864=)
c.2565G>C (p.Gly855=)
 gnomAD v4
7g.150947829C>TCA458870802KCNH2n.3575G>A
c.2742G>A (p.Gly914=)
c.1722G>A (p.Gly574=)
c.2442G>A (p.Gly814=)
c.2693-138G>A (n.2693-138G>A)
c.2592G>A (p.Gly864=)
c.2565G>A (p.Gly855=)
 dbSNP gnomAD v2
7g.150947830C>ACA369853481KCNH2n.3574G>T
c.2741G>T (p.Gly914Val)
c.1721G>T (p.Gly574Val)
c.2441G>T (p.Gly814Val)
c.2693-139G>T (n.2693-139G>T)
c.2591G>T (p.Gly864Val)
c.2564G>T (p.Gly855Val)
 gnomAD v4
7g.150947830C>GCA369853482KCNH2n.3574G>C
c.2741G>C (p.Gly914Ala)
c.1721G>C (p.Gly574Ala)
c.2441G>C (p.Gly814Ala)
c.2693-139G>C (n.2693-139G>C)
c.2591G>C (p.Gly864Ala)
c.2564G>C (p.Gly855Ala)
 gnomAD v4
7g.150947830C>TCA369853483KCNH2n.3574G>A
c.2741G>A (p.Gly914Glu)
c.1721G>A (p.Gly574Glu)
c.2441G>A (p.Gly814Glu)
c.2693-139G>A (n.2693-139G>A)
c.2591G>A (p.Gly864Glu)
c.2564G>A (p.Gly855Glu)
 gnomAD v4
7g.150947831C>ACA369853486KCNH2n.3573G>T
c.2740G>T (p.Gly914Trp)
c.1720G>T (p.Gly574Trp)
c.2440G>T (p.Gly814Trp)
c.2693-140G>T (n.2693-140G>T)
c.2590G>T (p.Gly864Trp)
c.2563G>T (p.Gly855Trp)
7g.150947831C=CA1752430421KCNH2n.3573G=
c.2740G= (p.Gly914=)
c.1720G= (p.Gly574=)
c.2440G= (p.Gly814=)
c.2693-140G= (n.2693-140G=)
c.2590G= (p.Gly864=)
c.2563G= (p.Gly855=)
7g.150947831C>GCA369853484KCNH2n.3573G>C
c.2740G>C (p.Gly914Arg)
c.1720G>C (p.Gly574Arg)
c.2440G>C (p.Gly814Arg)
c.2693-140G>C (n.2693-140G>C)
c.2590G>C (p.Gly864Arg)
c.2563G>C (p.Gly855Arg)
 dbSNP gnomAD v4
7g.150947831C>TCA369853485KCNH2n.3573G>A
c.2740G>A (p.Gly914Arg)
c.1720G>A (p.Gly574Arg)
c.2440G>A (p.Gly814Arg)
c.2693-140G>A (n.2693-140G>A)
c.2590G>A (p.Gly864Arg)
c.2563G>A (p.Gly855Arg)
 gnomAD v4
7g.150947832C>ACA458870807KCNH2n.3572G>T
c.2739G>T (p.Ala913=)
c.1719G>T (p.Ala573=)
c.2439G>T (p.Ala813=)
c.2693-141G>T (n.2693-141G>T)
c.2589G>T (p.Ala863=)
c.2562G>T (p.Ala854=)
 gnomAD v4
7g.150947832C=CA1752430426KCNH2n.3572G=
c.2739G= (p.Ala913=)
c.1719G= (p.Ala573=)
c.2439G= (p.Ala813=)
c.2693-141G= (n.2693-141G=)
c.2589G= (p.Ala863=)
c.2562G= (p.Ala854=)
7g.150947832C>GCA458870806KCNH2n.3572G>C
c.2739G>C (p.Ala913=)
c.1719G>C (p.Ala573=)
c.2439G>C (p.Ala813=)
c.2693-141G>C (n.2693-141G>C)
c.2589G>C (p.Ala863=)
c.2562G>C (p.Ala854=)
 dbSNP gnomAD v3 gnomAD v4
7g.150947832C>TCA034686KCNH2n.3572G>A
c.2739G>A (p.Ala913=)
c.1719G>A (p.Ala573=)
c.2439G>A (p.Ala813=)
c.2693-141G>A (n.2693-141G>A)
c.2589G>A (p.Ala863=)
c.2562G>A (p.Ala854=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947832_150947837delinsCGCCCGCA1752430430KCNH2n.3567_3572delinsCGGGCG
c.2734_2739delinsCGGGCG (p.Arg912=)
c.1714_1719delinsCGGGCG (p.Arg572=)
c.2434_2439delinsCGGGCG (p.Arg812=)
c.2693-146_2693-141delinsCGGGCG (n.2693-146_2693-141delinsCGGGCG)
c.2584_2589delinsCGGGCG (p.Arg862=)
c.2557_2562delinsCGGGCG (p.Arg853=)
7g.150947833G>ACA007260KCNH2n.3571C>T
c.2738C>T (p.Ala913Val)
c.1718C>T (p.Ala573Val)
c.2438C>T (p.Ala813Val)
c.2693-142C>T (n.2693-142C>T)
c.2588C>T (p.Ala863Val)
c.2561C>T (p.Ala854Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947833G>CCA369853487KCNH2n.3571C>G
c.2738C>G (p.Ala913Gly)
c.1718C>G (p.Ala573Gly)
c.2438C>G (p.Ala813Gly)
c.2693-142C>G (n.2693-142C>G)
c.2588C>G (p.Ala863Gly)
c.2561C>G (p.Ala854Gly)
 dbSNP
7g.150947833G=CA1752430441KCNH2n.3571C=
c.2738C= (p.Ala913=)
c.1718C= (p.Ala573=)
c.2438C= (p.Ala813=)
c.2693-142C= (n.2693-142C=)
c.2588C= (p.Ala863=)
c.2561C= (p.Ala854=)
7g.150947833G>TCA369853488KCNH2n.3571C>A
c.2738C>A (p.Ala913Glu)
c.1718C>A (p.Ala573Glu)
c.2438C>A (p.Ala813Glu)
c.2693-142C>A (n.2693-142C>A)
c.2588C>A (p.Ala863Glu)
c.2561C>A (p.Ala854Glu)
 ClinVar gnomAD v4
7g.150947835_150947836insGGCCCA658761321KCNH2n.3571_3572insCGGC
c.2738_2739insCGGC (p.Ala915GlyfsTer6)
c.1718_1719insCGGC (p.Ala575GlyfsTer6)
c.2438_2439insCGGC (p.Ala815GlyfsTer6)
c.2693-142_2693-141insCGGC (n.2693-142_2693-141insCGGC)
c.2588_2589insCGGC (p.Ala865GlyfsTer6)
c.2561_2562insCGGC (p.Ala856GlyfsTer6)
7g.150947842_150947846dupCA305505KCNH2n.3567_3571dup
c.2734_2738dup (p.Ala915ArgfsTer?)
c.1714_1718dup (p.Ala575ArgfsTer?)
c.2434_2438dup (p.Ala815ArgfsTer?)
c.2693-146_2693-142dup (n.2693-146_2693-142dup)
c.2584_2588dup (p.Ala865ArgfsTer?)
c.2557_2561dup (p.Ala856ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947842_150947846delCA658797034KCNH2n.3567_3571del
c.2734_2738del (p.Arg912GlyfsTer6)
c.1714_1718del (p.Arg572GlyfsTer6)
c.2434_2438del (p.Arg812GlyfsTer6)
c.2693-146_2693-142del (n.2693-146_2693-142del)
c.2584_2588del (p.Arg862GlyfsTer6)
c.2557_2561del (p.Arg853GlyfsTer6)
 ClinVar dbSNP
7g.150947834C>ACA369853489KCNH2n.3570G>T
c.2737G>T (p.Ala913Ser)
c.1717G>T (p.Ala573Ser)
c.2437G>T (p.Ala813Ser)
c.2693-143G>T (n.2693-143G>T)
c.2587G>T (p.Ala863Ser)
c.2560G>T (p.Ala854Ser)
 gnomAD v4 COSMIC COSMIC
7g.150947834C>GCA369853490KCNH2n.3570G>C
c.2737G>C (p.Ala913Pro)
c.1717G>C (p.Ala573Pro)
c.2437G>C (p.Ala813Pro)
c.2693-143G>C (n.2693-143G>C)
c.2587G>C (p.Ala863Pro)
c.2560G>C (p.Ala854Pro)
7g.150947834C>TCA369853491KCNH2n.3570G>A
c.2737G>A (p.Ala913Thr)
c.1717G>A (p.Ala573Thr)
c.2437G>A (p.Ala813Thr)
c.2693-143G>A (n.2693-143G>A)
c.2587G>A (p.Ala863Thr)
c.2560G>A (p.Ala854Thr)
 ClinVar dbSNP gnomAD v4
7g.150947835C>ACA458870812KCNH2n.3569G>T
c.2736G>T (p.Arg912=)
c.1716G>T (p.Arg572=)
c.2436G>T (p.Arg812=)
c.2693-144G>T (n.2693-144G>T)
c.2586G>T (p.Arg862=)
c.2559G>T (p.Arg853=)
 gnomAD v4
7g.150947835C>GCA458870814KCNH2n.3569G>C
c.2736G>C (p.Arg912=)
c.1716G>C (p.Arg572=)
c.2436G>C (p.Arg812=)
c.2693-144G>C (n.2693-144G>C)
c.2586G>C (p.Arg862=)
c.2559G>C (p.Arg853=)
7g.150947835C>TCA458870815KCNH2n.3569G>A
c.2736G>A (p.Arg912=)
c.1716G>A (p.Arg572=)
c.2436G>A (p.Arg812=)
c.2693-144G>A (n.2693-144G>A)
c.2586G>A (p.Arg862=)
c.2559G>A (p.Arg853=)
 gnomAD v4
7g.150947836C>ACA369853492KCNH2n.3568G>T
c.2735G>T (p.Arg912Leu)
c.1715G>T (p.Arg572Leu)
c.2435G>T (p.Arg812Leu)
c.2693-145G>T (n.2693-145G>T)
c.2585G>T (p.Arg862Leu)
c.2558G>T (p.Arg853Leu)
 gnomAD v4
7g.150947836C=CA1752430448KCNH2n.3568G=
c.2735G= (p.Arg912=)
c.1715G= (p.Arg572=)
c.2435G= (p.Arg812=)
c.2693-145G= (n.2693-145G=)
c.2585G= (p.Arg862=)
c.2558G= (p.Arg853=)
7g.150947836C>GCA369853493KCNH2n.3568G>C
c.2735G>C (p.Arg912Pro)
c.1715G>C (p.Arg572Pro)
c.2435G>C (p.Arg812Pro)
c.2693-145G>C (n.2693-145G>C)
c.2585G>C (p.Arg862Pro)
c.2558G>C (p.Arg853Pro)
7g.150947836C>TCA169072692KCNH2n.3568G>A
c.2735G>A (p.Arg912Gln)
c.1715G>A (p.Arg572Gln)
c.2435G>A (p.Arg812Gln)
c.2693-145G>A (n.2693-145G>A)
c.2585G>A (p.Arg862Gln)
c.2558G>A (p.Arg853Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947837G>ACA007249KCNH2n.3567C>T
c.2734C>T (p.Arg912Trp)
c.1714C>T (p.Arg572Trp)
c.2434C>T (p.Arg812Trp)
c.2693-146C>T (n.2693-146C>T)
c.2584C>T (p.Arg862Trp)
c.2557C>T (p.Arg853Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947837G>CCA369853494KCNH2n.3567C>G
c.2734C>G (p.Arg912Gly)
c.1714C>G (p.Arg572Gly)
c.2434C>G (p.Arg812Gly)
c.2693-146C>G (n.2693-146C>G)
c.2584C>G (p.Arg862Gly)
c.2557C>G (p.Arg853Gly)
 ClinVar
7g.150947837G=CA1752430449KCNH2n.3567C=
c.2734C= (p.Arg912=)
c.1714C= (p.Arg572=)
c.2434C= (p.Arg812=)
c.2693-146C= (n.2693-146C=)
c.2584C= (p.Arg862=)
c.2557C= (p.Arg853=)
7g.150947837G>TCA458870819KCNH2n.3567C>A
c.2734C>A (p.Arg912=)
c.1714C>A (p.Arg572=)
c.2434C>A (p.Arg812=)
c.2693-146C>A (n.2693-146C>A)
c.2584C>A (p.Arg862=)
c.2557C>A (p.Arg853=)
 gnomAD v4
7g.150947838dupCA2580077749KCNH2n.3567dup
c.2734dup (p.Arg912ProfsTer8)
c.1714dup (p.Arg572ProfsTer8)
c.2434dup (p.Arg812ProfsTer8)
c.2693-146dup (n.2693-146dup)
c.2584dup (p.Arg862ProfsTer8)
c.2557dup (p.Arg853ProfsTer8)
 ClinVar
7g.150947841_150947853delCA2695208807KCNH2n.3555_3567del
c.2722_2734del (p.Leu908GlyfsTer?)
c.1702_1714del (p.Leu568GlyfsTer?)
c.2422_2434del (p.Leu808GlyfsTer?)
c.2693-158_2693-146del (n.2693-158_2693-146del)
c.2572_2584del (p.Leu858GlyfsTer?)
c.2545_2557del (p.Leu849GlyfsTer?)
7g.150947838G>ACA458870821KCNH2n.3566C>T
c.2733C>T (p.Gly911=)
c.1713C>T (p.Gly571=)
c.2433C>T (p.Gly811=)
c.2693-147C>T (n.2693-147C>T)
c.2583C>T (p.Gly861=)
c.2556C>T (p.Gly852=)
 gnomAD v4
7g.150947838G>CCA458870823KCNH2n.3566C>G
c.2733C>G (p.Gly911=)
c.1713C>G (p.Gly571=)
c.2433C>G (p.Gly811=)
c.2693-147C>G (n.2693-147C>G)
c.2583C>G (p.Gly861=)
c.2556C>G (p.Gly852=)
7g.150947838G>TCA458870824KCNH2n.3566C>A
c.2733C>A (p.Gly911=)
c.1713C>A (p.Gly571=)
c.2433C>A (p.Gly811=)
c.2693-147C>A (n.2693-147C>A)
c.2583C>A (p.Gly861=)
c.2556C>A (p.Gly852=)
 gnomAD v4
7g.150947838_150947839delinsGCCA1752430452KCNH2n.3565_3566delinsGC
c.2732_2733delinsGC (p.Gly911=)
c.1712_1713delinsGC (p.Gly571=)
c.2432_2433delinsGC (p.Gly811=)
c.2693-148_2693-147delinsGC (n.2693-148_2693-147delinsGC)
c.2582_2583delinsGC (p.Gly861=)
c.2555_2556delinsGC (p.Gly852=)
7g.150947839C>ACA369853497KCNH2n.3565G>T
c.2732G>T (p.Gly911Val)
c.1712G>T (p.Gly571Val)
c.2432G>T (p.Gly811Val)
c.2693-148G>T (n.2693-148G>T)
c.2582G>T (p.Gly861Val)
c.2555G>T (p.Gly852Val)
 gnomAD v4
7g.150947839C>GCA369853495KCNH2n.3565G>C
c.2732G>C (p.Gly911Ala)
c.1712G>C (p.Gly571Ala)
c.2432G>C (p.Gly811Ala)
c.2693-148G>C (n.2693-148G>C)
c.2582G>C (p.Gly861Ala)
c.2555G>C (p.Gly852Ala)
7g.150947839C>TCA369853496KCNH2n.3565G>A
c.2732G>A (p.Gly911Asp)
c.1712G>A (p.Gly571Asp)
c.2432G>A (p.Gly811Asp)
c.2693-148G>A (n.2693-148G>A)
c.2582G>A (p.Gly861Asp)
c.2555G>A (p.Gly852Asp)
 gnomAD v4
7g.150947840_150947841dupCA305327KCNH2n.3564_3565dup
c.2731_2732dup (p.Arg912AlafsTer?)
c.1711_1712dup (p.Arg572AlafsTer?)
c.2431_2432dup (p.Arg812AlafsTer?)
c.2693-149_2693-148dup (n.2693-149_2693-148dup)
c.2581_2582dup (p.Arg862AlafsTer?)
c.2554_2555dup (p.Arg853AlafsTer?)
 dbSNP
7g.150947841delCA007240KCNH2n.3565del
c.2732del (p.Gly911AlafsTer?)
c.1712del (p.Gly571AlafsTer?)
c.2432del (p.Gly811AlafsTer?)
c.2693-148del (n.2693-148del)
c.2582del (p.Gly861AlafsTer?)
c.2555del (p.Gly852AlafsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947842_150947864delCA2695208808KCNH2n.3543_3565del
c.2710_2732del (p.Glu904ProfsTer8)
c.1690_1712del (p.Glu564ProfsTer8)
c.2410_2432del (p.Glu804ProfsTer8)
c.2693-170_2693-148del (n.2693-170_2693-148del)
c.2560_2582del (p.Glu854ProfsTer8)
c.2533_2555del (p.Glu845ProfsTer8)
7g.150947840C>ACA369853498KCNH2n.3564G>T
c.2731G>T (p.Gly911Cys)
c.1711G>T (p.Gly571Cys)
c.2431G>T (p.Gly811Cys)
c.2693-149G>T (n.2693-149G>T)
c.2581G>T (p.Gly861Cys)
c.2554G>T (p.Gly852Cys)
7g.150947840C=CA1752430456KCNH2n.3564G=
c.2731G= (p.Gly911=)
c.1711G= (p.Gly571=)
c.2431G= (p.Gly811=)
c.2693-149G= (n.2693-149G=)
c.2581G= (p.Gly861=)
c.2554G= (p.Gly852=)
7g.150947840C>GCA369853499KCNH2n.3564G>C
c.2731G>C (p.Gly911Arg)
c.1711G>C (p.Gly571Arg)
c.2431G>C (p.Gly811Arg)
c.2693-149G>C (n.2693-149G>C)
c.2581G>C (p.Gly861Arg)
c.2554G>C (p.Gly852Arg)
 ClinVar dbSNP
7g.150947840C>TCA369853500KCNH2n.3564G>A
c.2731G>A (p.Gly911Ser)
c.1711G>A (p.Gly571Ser)
c.2431G>A (p.Gly811Ser)
c.2693-149G>A (n.2693-149G>A)
c.2581G>A (p.Gly861Ser)
c.2554G>A (p.Gly852Ser)
 gnomAD v4
7g.150947841C>ACA458870829KCNH2n.3563G>T
c.2730G>T (p.Pro910=)
c.1710G>T (p.Pro570=)
c.2430G>T (p.Pro810=)
c.2693-150G>T (n.2693-150G>T)
c.2580G>T (p.Pro860=)
c.2553G>T (p.Pro851=)
 gnomAD v4
7g.150947841C=CA1752430457KCNH2n.3563G=
c.2730G= (p.Pro910=)
c.1710G= (p.Pro570=)
c.2430G= (p.Pro810=)
c.2693-150G= (n.2693-150G=)
c.2580G= (p.Pro860=)
c.2553G= (p.Pro851=)
7g.150947841C>GCA458870831KCNH2n.3563G>C
c.2730G>C (p.Pro910=)
c.1710G>C (p.Pro570=)
c.2430G>C (p.Pro810=)
c.2693-150G>C (n.2693-150G>C)
c.2580G>C (p.Pro860=)
c.2553G>C (p.Pro851=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947841C>TCA16605724KCNH2n.3563G>A
c.2730G>A (p.Pro910=)
c.1710G>A (p.Pro570=)
c.2430G>A (p.Pro810=)
c.2693-150G>A (n.2693-150G>A)
c.2580G>A (p.Pro860=)
c.2553G>A (p.Pro851=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947842G>ACA007231KCNH2n.3562C>T
c.2729C>T (p.Pro910Leu)
c.1709C>T (p.Pro570Leu)
c.2429C>T (p.Pro810Leu)
c.2693-151C>T (n.2693-151C>T)
c.2579C>T (p.Pro860Leu)
c.2552C>T (p.Pro851Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947842G>CCA369853501KCNH2n.3562C>G
c.2729C>G (p.Pro910Arg)
c.1709C>G (p.Pro570Arg)
c.2429C>G (p.Pro810Arg)
c.2693-151C>G (n.2693-151C>G)
c.2579C>G (p.Pro860Arg)
c.2552C>G (p.Pro851Arg)
 gnomAD v4
7g.150947842G=CA1752430462KCNH2n.3562C=
c.2729C= (p.Pro910=)
c.1709C= (p.Pro570=)
c.2429C= (p.Pro810=)
c.2693-151C= (n.2693-151C=)
c.2579C= (p.Pro860=)
c.2552C= (p.Pro851=)
7g.150947842G>TCA369853502KCNH2n.3562C>A
c.2729C>A (p.Pro910Gln)
c.1709C>A (p.Pro570Gln)
c.2429C>A (p.Pro810Gln)
c.2693-151C>A (n.2693-151C>A)
c.2579C>A (p.Pro860Gln)
c.2552C>A (p.Pro851Gln)
 gnomAD v4
7g.150947845_150947868delCA2685602129KCNH2n.3539_3562del
c.2706_2729del (p.Gly903_Pro910del)
c.1686_1709del (p.Gly563_Pro570del)
c.2406_2429del (p.Gly803_Pro810del)
c.2693-174_2693-151del (n.2693-174_2693-151del)
c.2556_2579del (p.Gly853_Pro860del)
c.2529_2552del (p.Gly844_Pro851del)
 gnomAD v4
7g.150947843G>ACA369853505KCNH2n.3561C>T
c.2728C>T (p.Pro910Ser)
c.1708C>T (p.Pro570Ser)
c.2428C>T (p.Pro810Ser)
c.2693-152C>T (n.2693-152C>T)
c.2578C>T (p.Pro860Ser)
c.2551C>T (p.Pro851Ser)
 gnomAD v4 COSMIC COSMIC
7g.150947843G>CCA369853503KCNH2n.3561C>G
c.2728C>G (p.Pro910Ala)
c.1708C>G (p.Pro570Ala)
c.2428C>G (p.Pro810Ala)
c.2693-152C>G (n.2693-152C>G)
c.2578C>G (p.Pro860Ala)
c.2551C>G (p.Pro851Ala)
7g.150947843G>TCA369853504KCNH2n.3561C>A
c.2728C>A (p.Pro910Thr)
c.1708C>A (p.Pro570Thr)
c.2428C>A (p.Pro810Thr)
c.2693-152C>A (n.2693-152C>A)
c.2578C>A (p.Pro860Thr)
c.2551C>A (p.Pro851Thr)
 gnomAD v4
7g.150947843_150947844delinsGCCA1752430470KCNH2n.3560_3561delinsGC
c.2727_2728delinsGC (p.Gly909=)
c.1707_1708delinsGC (p.Gly569=)
c.2427_2428delinsGC (p.Gly809=)
c.2693-153_2693-152delinsGC (n.2693-153_2693-152delinsGC)
c.2577_2578delinsGC (p.Gly859=)
c.2550_2551delinsGC (p.Gly850=)
7g.150947843_150947847dupCA305326KCNH2n.3557_3561dup
c.2724_2728dup (p.Pro910ArgfsTer?)
c.1704_1708dup (p.Pro570ArgfsTer?)
c.2424_2428dup (p.Pro810ArgfsTer?)
c.2693-156_2693-152dup (n.2693-156_2693-152dup)
c.2574_2578dup (p.Pro860ArgfsTer?)
c.2547_2551dup (p.Pro851ArgfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947844C>ACA169072700KCNH2n.3560G>T
c.2727G>T (p.Gly909=)
c.1707G>T (p.Gly569=)
c.2427G>T (p.Gly809=)
c.2693-153G>T (n.2693-153G>T)
c.2577G>T (p.Gly859=)
c.2550G>T (p.Gly850=)
 dbSNP
7g.150947844C=CA1752430477KCNH2n.3560G=
c.2727G= (p.Gly909=)
c.1707G= (p.Gly569=)
c.2427G= (p.Gly809=)
c.2693-153G= (n.2693-153G=)
c.2577G= (p.Gly859=)
c.2550G= (p.Gly850=)
7g.150947844C>GCA458870839KCNH2n.3560G>C
c.2727G>C (p.Gly909=)
c.1707G>C (p.Gly569=)
c.2427G>C (p.Gly809=)
c.2693-153G>C (n.2693-153G>C)
c.2577G>C (p.Gly859=)
c.2550G>C (p.Gly850=)
7g.150947844C>TCA458870840KCNH2n.3560G>A
c.2727G>A (p.Gly909=)
c.1707G>A (p.Gly569=)
c.2427G>A (p.Gly809=)
c.2693-153G>A (n.2693-153G>A)
c.2577G>A (p.Gly859=)
c.2550G>A (p.Gly850=)
 gnomAD v4
7g.150947847delCA007221KCNH2n.3560del
c.2727del (p.Pro910ArgfsTer?)
c.1707del (p.Pro570ArgfsTer?)
c.2427del (p.Pro810ArgfsTer?)
c.2693-153del (n.2693-153del)
c.2577del (p.Pro860ArgfsTer?)
c.2550del (p.Pro851ArgfsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947844_150947858delinsCCCCAAGGCCGACACCA1752430479KCNH2n.3546_3560delinsGTGTCGGCCTTGGGG
c.2713_2727delinsGTGTCGGCCTTGGGG (p.Val905=)
c.1693_1707delinsGTGTCGGCCTTGGGG (p.Val565=)
c.2413_2427delinsGTGTCGGCCTTGGGG (p.Val805=)
c.2693-167_2693-153delinsGTGTCGGCCTTGGGG (n.2693-167_2693-153delinsGTGTCGGCCTTGGGG)
c.2563_2577delinsGTGTCGGCCTTGGGG (p.Val855=)
c.2536_2550delinsGTGTCGGCCTTGGGG (p.Val846=)
7g.150947845C>ACA369853506KCNH2n.3559G>T
c.2726G>T (p.Gly909Val)
c.1706G>T (p.Gly569Val)
c.2426G>T (p.Gly809Val)
c.2693-154G>T (n.2693-154G>T)
c.2576G>T (p.Gly859Val)
c.2549G>T (p.Gly850Val)
7g.150947845C=CA1752430485KCNH2n.3559G=
c.2726G= (p.Gly909=)
c.1706G= (p.Gly569=)
c.2426G= (p.Gly809=)
c.2693-154G= (n.2693-154G=)
c.2576G= (p.Gly859=)
c.2549G= (p.Gly850=)
7g.150947845C>GCA369853507KCNH2n.3559G>C
c.2726G>C (p.Gly909Ala)
c.1706G>C (p.Gly569Ala)
c.2426G>C (p.Gly809Ala)
c.2693-154G>C (n.2693-154G>C)
c.2576G>C (p.Gly859Ala)
c.2549G>C (p.Gly850Ala)
7g.150947845C>TCA369853508KCNH2n.3559G>A
c.2726G>A (p.Gly909Glu)
c.1706G>A (p.Gly569Glu)
c.2426G>A (p.Gly809Glu)
c.2693-154G>A (n.2693-154G>A)
c.2576G>A (p.Gly859Glu)
c.2549G>A (p.Gly850Glu)
 dbSNP
7g.150947845_150947849delinsCCCAACA1752430483KCNH2n.3555_3559delinsTTGGG
c.2722_2726delinsTTGGG (p.Leu908=)
c.1702_1706delinsTTGGG (p.Leu568=)
c.2422_2426delinsTTGGG (p.Leu808=)
c.2693-158_2693-154delinsTTGGG (n.2693-158_2693-154delinsTTGGG)
c.2572_2576delinsTTGGG (p.Leu858=)
c.2545_2549delinsTTGGG (p.Leu849=)
7g.150947845_150947858delinsTGCA1139660336KCNH2n.3546_3559delinsCA
c.2713_2726delinsCA (p.Val905_Gly909delinsGln)
c.1693_1706delinsCA (p.Val565_Gly569delinsGln)
c.2413_2426delinsCA (p.Val805_Gly809delinsGln)
c.2693-167_2693-154delinsCA (n.2693-167_2693-154delinsCA)
c.2563_2576delinsCA (p.Val855_Gly859delinsGln)
c.2536_2549delinsCA (p.Val846_Gly850delinsGln)
 ClinVar dbSNP
7g.150947846C>ACA369853509KCNH2n.3558G>T
c.2725G>T (p.Gly909Trp)
c.1705G>T (p.Gly569Trp)
c.2425G>T (p.Gly809Trp)
c.2693-155G>T (n.2693-155G>T)
c.2575G>T (p.Gly859Trp)
c.2548G>T (p.Gly850Trp)
 gnomAD v4
7g.150947846C=CA1752430486KCNH2n.3558G=
c.2725G= (p.Gly909=)
c.1705G= (p.Gly569=)
c.2425G= (p.Gly809=)
c.2693-155G= (n.2693-155G=)
c.2575G= (p.Gly859=)
c.2548G= (p.Gly850=)
7g.150947846C>GCA369853511KCNH2n.3558G>C
c.2725G>C (p.Gly909Arg)
c.1705G>C (p.Gly569Arg)
c.2425G>C (p.Gly809Arg)
c.2693-155G>C (n.2693-155G>C)
c.2575G>C (p.Gly859Arg)
c.2548G>C (p.Gly850Arg)
7g.150947846C>TCA369853510KCNH2n.3558G>A
c.2725G>A (p.Gly909Arg)
c.1705G>A (p.Gly569Arg)
c.2425G>A (p.Gly809Arg)
c.2693-155G>A (n.2693-155G>A)
c.2575G>A (p.Gly859Arg)
c.2548G>A (p.Gly850Arg)
 dbSNP gnomAD v2
7g.150947846_150947849delCA579075199KCNH2n.3555_3558del
c.2722_2725del (p.Leu908GlyfsTer?)
c.1702_1705del (p.Leu568GlyfsTer?)
c.2422_2425del (p.Leu808GlyfsTer?)
c.2693-158_2693-155del (n.2693-158_2693-155del)
c.2572_2575del (p.Leu858GlyfsTer?)
c.2545_2548del (p.Leu849GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
7g.150947846_150947849delinsTTGCA2695208809KCNH2n.3555_3558delinsCAA
c.2722_2725delinsCAA (p.Leu908GlnfsTer?)
c.1702_1705delinsCAA (p.Leu568GlnfsTer?)
c.2422_2425delinsCAA (p.Leu808GlnfsTer?)
c.2693-158_2693-155delinsCAA (n.2693-158_2693-155delinsCAA)
c.2572_2575delinsCAA (p.Leu858GlnfsTer?)
c.2545_2548delinsCAA (p.Leu849GlnfsTer?)
7g.150947847C>ACA369853512KCNH2n.3557G>T
c.2724G>T (p.Leu908Phe)
c.1704G>T (p.Leu568Phe)
c.2424G>T (p.Leu808Phe)
c.2693-156G>T (n.2693-156G>T)
c.2574G>T (p.Leu858Phe)
c.2547G>T (p.Leu849Phe)
7g.150947847C>GCA369853513KCNH2n.3557G>C
c.2724G>C (p.Leu908Phe)
c.1704G>C (p.Leu568Phe)
c.2424G>C (p.Leu808Phe)
c.2693-156G>C (n.2693-156G>C)
c.2574G>C (p.Leu858Phe)
c.2547G>C (p.Leu849Phe)
 gnomAD v4
7g.150947847C>TCA458870851KCNH2n.3557G>A
c.2724G>A (p.Leu908=)
c.1704G>A (p.Leu568=)
c.2424G>A (p.Leu808=)
c.2693-156G>A (n.2693-156G>A)
c.2574G>A (p.Leu858=)
c.2547G>A (p.Leu849=)
7g.150947848A>CCA369853514KCNH2n.3556T>G
c.2723T>G (p.Leu908Trp)
c.1703T>G (p.Leu568Trp)
c.2423T>G (p.Leu808Trp)
c.2693-157T>G (n.2693-157T>G)
c.2573T>G (p.Leu858Trp)
c.2546T>G (p.Leu849Trp)
7g.150947848A>GCA369853515KCNH2n.3556T>C
c.2723T>C (p.Leu908Ser)
c.1703T>C (p.Leu568Ser)
c.2423T>C (p.Leu808Ser)
c.2693-157T>C (n.2693-157T>C)
c.2573T>C (p.Leu858Ser)
c.2546T>C (p.Leu849Ser)
 gnomAD v4
7g.150947848A>TCA369853516KCNH2n.3556T>A
c.2723T>A (p.Leu908Ter)
c.1703T>A (p.Leu568Ter)
c.2423T>A (p.Leu808Ter)
c.2693-157T>A (n.2693-157T>A)
c.2573T>A (p.Leu858Ter)
c.2546T>A (p.Leu849Ter)
7g.150947849A=CA1752430490KCNH2n.3555T=
c.2722T= (p.Leu908=)
c.1702T= (p.Leu568=)
c.2422T= (p.Leu808=)
c.2693-158T= (n.2693-158T=)
c.2572T= (p.Leu858=)
c.2545T= (p.Leu849=)
7g.150947849A>CCA369853517KCNH2n.3555T>G
c.2722T>G (p.Leu908Val)
c.1702T>G (p.Leu568Val)
c.2422T>G (p.Leu808Val)
c.2693-158T>G (n.2693-158T>G)
c.2572T>G (p.Leu858Val)
c.2545T>G (p.Leu849Val)
7g.150947849A>GCA034643KCNH2n.3555T>C
c.2722T>C (p.Leu908=)
c.1702T>C (p.Leu568=)
c.2422T>C (p.Leu808=)
c.2693-158T>C (n.2693-158T>C)
c.2572T>C (p.Leu858=)
c.2545T>C (p.Leu849=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947849A>TCA369853518KCNH2n.3555T>A
c.2722T>A (p.Leu908Met)
c.1702T>A (p.Leu568Met)
c.2422T>A (p.Leu808Met)
c.2693-158T>A (n.2693-158T>A)
c.2572T>A (p.Leu858Met)
c.2545T>A (p.Leu849Met)
 gnomAD v4
7g.150947849_150947850insTTGGCA579075200KCNH2n.3554_3555insCCAA
c.2721_2722insCCAA (p.Leu908ProfsTer13)
c.1701_1702insCCAA (p.Leu568ProfsTer13)
c.2421_2422insCCAA (p.Leu808ProfsTer13)
c.2693-159_2693-158insCCAA (n.2693-159_2693-158insCCAA)
c.2571_2572insCCAA (p.Leu858ProfsTer13)
c.2544_2545insCCAA (p.Leu849ProfsTer13)
 dbSNP gnomAD v2
7g.150947850G>ACA458870853KCNH2n.3554C>T
c.2721C>T (p.Ala907=)
c.1701C>T (p.Ala567=)
c.2421C>T (p.Ala807=)
c.2693-159C>T (n.2693-159C>T)
c.2571C>T (p.Ala857=)
c.2544C>T (p.Ala848=)
 ClinVar dbSNP gnomAD v4
7g.150947850G>CCA458870854KCNH2n.3554C>G
c.2721C>G (p.Ala907=)
c.1701C>G (p.Ala567=)
c.2421C>G (p.Ala807=)
c.2693-159C>G (n.2693-159C>G)
c.2571C>G (p.Ala857=)
c.2544C>G (p.Ala848=)
7g.150947850G=CA1752430491KCNH2n.3554C=
c.2721C= (p.Ala907=)
c.1701C= (p.Ala567=)
c.2421C= (p.Ala807=)
c.2693-159C= (n.2693-159C=)
c.2571C= (p.Ala857=)
c.2544C= (p.Ala848=)
7g.150947850G>TCA458870856KCNH2n.3554C>A
c.2721C>A (p.Ala907=)
c.1701C>A (p.Ala567=)
c.2421C>A (p.Ala807=)
c.2693-159C>A (n.2693-159C>A)
c.2571C>A (p.Ala857=)
c.2544C>A (p.Ala848=)
 gnomAD v4
7g.150947851_150947854dupCA2695208810KCNH2n.3551_3554dup
c.2718_2721dup (p.Leu908GlyfsTer13)
c.1698_1701dup (p.Leu568GlyfsTer13)
c.2418_2421dup (p.Leu808GlyfsTer13)
c.2693-162_2693-159dup (n.2693-162_2693-159dup)
c.2568_2571dup (p.Leu858GlyfsTer13)
c.2541_2544dup (p.Leu849GlyfsTer13)
7g.150947851G>ACA369853519KCNH2n.3553C>T
c.2720C>T (p.Ala907Val)
c.1700C>T (p.Ala567Val)
c.2420C>T (p.Ala807Val)
c.2693-160C>T (n.2693-160C>T)
c.2570C>T (p.Ala857Val)
c.2543C>T (p.Ala848Val)
7g.150947851G>CCA369853520KCNH2n.3553C>G
c.2720C>G (p.Ala907Gly)
c.1700C>G (p.Ala567Gly)
c.2420C>G (p.Ala807Gly)
c.2693-160C>G (n.2693-160C>G)
c.2570C>G (p.Ala857Gly)
c.2543C>G (p.Ala848Gly)
7g.150947851G>TCA369853521KCNH2n.3553C>A
c.2720C>A (p.Ala907Asp)
c.1700C>A (p.Ala567Asp)
c.2420C>A (p.Ala807Asp)
c.2693-160C>A (n.2693-160C>A)
c.2570C>A (p.Ala857Asp)
c.2543C>A (p.Ala848Asp)
 gnomAD v4
7g.150947852C>ACA034631KCNH2n.3552G>T
c.2719G>T (p.Ala907Ser)
c.1699G>T (p.Ala567Ser)
c.2419G>T (p.Ala807Ser)
c.2693-161G>T (n.2693-161G>T)
c.2569G>T (p.Ala857Ser)
c.2542G>T (p.Ala848Ser)
 ClinVar dbSNP ExAC gnomAD v4
7g.150947852C=CA1752430495KCNH2n.3552G=
c.2719G= (p.Ala907=)
c.1699G= (p.Ala567=)
c.2419G= (p.Ala807=)
c.2693-161G= (n.2693-161G=)
c.2569G= (p.Ala857=)
c.2542G= (p.Ala848=)
7g.150947852C>GCA369853522KCNH2n.3552G>C
c.2719G>C (p.Ala907Pro)
c.1699G>C (p.Ala567Pro)
c.2419G>C (p.Ala807Pro)
c.2693-161G>C (n.2693-161G>C)
c.2569G>C (p.Ala857Pro)
c.2542G>C (p.Ala848Pro)
7g.150947852C>TCA007213KCNH2n.3552G>A
c.2719G>A (p.Ala907Thr)
c.1699G>A (p.Ala567Thr)
c.2419G>A (p.Ala807Thr)
c.2693-161G>A (n.2693-161G>A)
c.2569G>A (p.Ala857Thr)
c.2542G>A (p.Ala848Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947853delCA2685602130KCNH2n.3552del
c.2719del (p.Ala907ProfsTer?)
c.1699del (p.Ala567ProfsTer?)
c.2419del (p.Ala807ProfsTer?)
c.2693-161del (n.2693-161del)
c.2569del (p.Ala857ProfsTer?)
c.2542del (p.Ala848ProfsTer?)
 gnomAD v4
7g.150947853C>ACA458870862KCNH2n.3551G>T
c.2718G>T (p.Ser906=)
c.1698G>T (p.Ser566=)
c.2418G>T (p.Ser806=)
c.2693-162G>T (n.2693-162G>T)
c.2568G>T (p.Ser856=)
c.2541G>T (p.Ser847=)
 gnomAD v4
7g.150947853C=CA1752430498KCNH2n.3551G=
c.2718G= (p.Ser906=)
c.1698G= (p.Ser566=)
c.2418G= (p.Ser806=)
c.2693-162G= (n.2693-162G=)
c.2568G= (p.Ser856=)
c.2541G= (p.Ser847=)
7g.150947853C>GCA458870863KCNH2n.3551G>C
c.2718G>C (p.Ser906=)
c.1698G>C (p.Ser566=)
c.2418G>C (p.Ser806=)
c.2693-162G>C (n.2693-162G>C)
c.2568G>C (p.Ser856=)
c.2541G>C (p.Ser847=)
7g.150947853C>TCA458870864KCNH2n.3551G>A
c.2718G>A (p.Ser906=)
c.1698G>A (p.Ser566=)
c.2418G>A (p.Ser806=)
c.2693-162G>A (n.2693-162G>A)
c.2568G>A (p.Ser856=)
c.2541G>A (p.Ser847=)
 ClinVar dbSNP gnomAD v4
7g.150947854G>ACA007206KCNH2n.3550C>T
c.2717C>T (p.Ser906Leu)
c.1697C>T (p.Ser566Leu)
c.2417C>T (p.Ser806Leu)
c.2693-163C>T (n.2693-163C>T)
c.2567C>T (p.Ser856Leu)
c.2540C>T (p.Ser847Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947854G>CCA369853523KCNH2n.3550C>G
c.2717C>G (p.Ser906Trp)
c.1697C>G (p.Ser566Trp)
c.2417C>G (p.Ser806Trp)
c.2693-163C>G (n.2693-163C>G)
c.2567C>G (p.Ser856Trp)
c.2540C>G (p.Ser847Trp)
7g.150947854G=CA1752430499KCNH2n.3550C=
c.2717C= (p.Ser906=)
c.1697C= (p.Ser566=)
c.2417C= (p.Ser806=)
c.2693-163C= (n.2693-163C=)
c.2567C= (p.Ser856=)
c.2540C= (p.Ser847=)
7g.150947854G>TCA369853524KCNH2n.3550C>A
c.2717C>A (p.Ser906Ter)
c.1697C>A (p.Ser566Ter)
c.2417C>A (p.Ser806Ter)
c.2693-163C>A (n.2693-163C>A)
c.2567C>A (p.Ser856Ter)
c.2540C>A (p.Ser847Ter)
 gnomAD v4
7g.150947855_150947867dupCA2685602131KCNH2n.3538_3550dup
c.2705_2717dup (p.Ala907ArgfsTer17)
c.1685_1697dup (p.Ala567ArgfsTer17)
c.2405_2417dup (p.Ala807ArgfsTer17)
c.2693-175_2693-163dup (n.2693-175_2693-163dup)
c.2555_2567dup (p.Ala857ArgfsTer17)
c.2528_2540dup (p.Ala848ArgfsTer17)
 gnomAD v4
7g.150947855A>CCA369853525KCNH2n.3549T>G
c.2716T>G (p.Ser906Ala)
c.1696T>G (p.Ser566Ala)
c.2416T>G (p.Ser806Ala)
c.2693-164T>G (n.2693-164T>G)
c.2566T>G (p.Ser856Ala)
c.2539T>G (p.Ser847Ala)
7g.150947855A>GCA369853526KCNH2n.3549T>C
c.2716T>C (p.Ser906Pro)
c.1696T>C (p.Ser566Pro)
c.2416T>C (p.Ser806Pro)
c.2693-164T>C (n.2693-164T>C)
c.2566T>C (p.Ser856Pro)
c.2539T>C (p.Ser847Pro)
7g.150947855A>TCA369853527KCNH2n.3549T>A
c.2716T>A (p.Ser906Thr)
c.1696T>A (p.Ser566Thr)
c.2416T>A (p.Ser806Thr)
c.2693-164T>A (n.2693-164T>A)
c.2566T>A (p.Ser856Thr)
c.2539T>A (p.Ser847Thr)
7g.150947856C>ACA458870870KCNH2n.3548G>T
c.2715G>T (p.Val905=)
c.1695G>T (p.Val565=)
c.2415G>T (p.Val805=)
c.2693-165G>T (n.2693-165G>T)
c.2565G>T (p.Val855=)
c.2538G>T (p.Val846=)
 gnomAD v4
7g.150947856C>GCA458870871KCNH2n.3548G>C
c.2715G>C (p.Val905=)
c.1695G>C (p.Val565=)
c.2415G>C (p.Val805=)
c.2693-165G>C (n.2693-165G>C)
c.2565G>C (p.Val855=)
c.2538G>C (p.Val846=)
7g.150947856C>TCA458870872KCNH2n.3548G>A
c.2715G>A (p.Val905=)
c.1695G>A (p.Val565=)
c.2415G>A (p.Val805=)
c.2693-165G>A (n.2693-165G>A)
c.2565G>A (p.Val855=)
c.2538G>A (p.Val846=)
 gnomAD v4
7g.150947857A>CCA369853528KCNH2n.3547T>G
c.2714T>G (p.Val905Gly)
c.1694T>G (p.Val565Gly)
c.2414T>G (p.Val805Gly)
c.2693-166T>G (n.2693-166T>G)
c.2564T>G (p.Val855Gly)
c.2537T>G (p.Val846Gly)
7g.150947857A>GCA369853529KCNH2n.3547T>C
c.2714T>C (p.Val905Ala)
c.1694T>C (p.Val565Ala)
c.2414T>C (p.Val805Ala)
c.2693-166T>C (n.2693-166T>C)
c.2564T>C (p.Val855Ala)
c.2537T>C (p.Val846Ala)
7g.150947857A>TCA369853530KCNH2n.3547T>A
c.2714T>A (p.Val905Glu)
c.1694T>A (p.Val565Glu)
c.2414T>A (p.Val805Glu)
c.2693-166T>A (n.2693-166T>A)
c.2564T>A (p.Val855Glu)
c.2537T>A (p.Val846Glu)
7g.150947858C>ACA369853531KCNH2n.3546G>T
c.2713G>T (p.Val905Leu)
c.1693G>T (p.Val565Leu)
c.2413G>T (p.Val805Leu)
c.2693-167G>T (n.2693-167G>T)
c.2563G>T (p.Val855Leu)
c.2536G>T (p.Val846Leu)
7g.150947858C=CA1752430503KCNH2n.3546G=
c.2713G= (p.Val905=)
c.1693G= (p.Val565=)
c.2413G= (p.Val805=)
c.2693-167G= (n.2693-167G=)
c.2563G= (p.Val855=)
c.2536G= (p.Val846=)
7g.150947858C>GCA369853532KCNH2n.3546G>C
c.2713G>C (p.Val905Leu)
c.1693G>C (p.Val565Leu)
c.2413G>C (p.Val805Leu)
c.2693-167G>C (n.2693-167G>C)
c.2563G>C (p.Val855Leu)
c.2536G>C (p.Val846Leu)
7g.150947858C>TCA369853533KCNH2n.3546G>A
c.2713G>A (p.Val905Met)
c.1693G>A (p.Val565Met)
c.2413G>A (p.Val805Met)
c.2693-167G>A (n.2693-167G>A)
c.2563G>A (p.Val855Met)
c.2536G>A (p.Val846Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947860_150947863dupCA2825001554KCNH2n.3543_3546dup
c.2710_2713dup (p.Val905GlyfsTer16)
c.1690_1693dup (p.Val565GlyfsTer16)
c.2410_2413dup (p.Val805GlyfsTer16)
c.2693-170_2693-167dup (n.2693-170_2693-167dup)
c.2560_2563dup (p.Val855GlyfsTer16)
c.2533_2536dup (p.Val846GlyfsTer16)
 ClinVar
7g.150947859C>ACA369853535KCNH2n.3545G>T
c.2712G>T (p.Glu904Asp)
c.1692G>T (p.Glu564Asp)
c.2412G>T (p.Glu804Asp)
c.2693-168G>T (n.2693-168G>T)
c.2562G>T (p.Glu854Asp)
c.2535G>T (p.Glu845Asp)
 gnomAD v4
7g.150947859C>GCA369853534KCNH2n.3545G>C
c.2712G>C (p.Glu904Asp)
c.1692G>C (p.Glu564Asp)
c.2412G>C (p.Glu804Asp)
c.2693-168G>C (n.2693-168G>C)
c.2562G>C (p.Glu854Asp)
c.2535G>C (p.Glu845Asp)
7g.150947859C>TCA458870877KCNH2n.3545G>A
c.2712G>A (p.Glu904=)
c.1692G>A (p.Glu564=)
c.2412G>A (p.Glu804=)
c.2693-168G>A (n.2693-168G>A)
c.2562G>A (p.Glu854=)
c.2535G>A (p.Glu845=)
 gnomAD v4
7g.150947860T>ACA007198KCNH2n.3544A>T
c.2711A>T (p.Glu904Val)
c.1691A>T (p.Glu564Val)
c.2411A>T (p.Glu804Val)
c.2693-169A>T (n.2693-169A>T)
c.2561A>T (p.Glu854Val)
c.2534A>T (p.Glu845Val)
 ClinVar dbSNP
7g.150947860T>CCA369853536KCNH2n.3544A>G
c.2711A>G (p.Glu904Gly)
c.1691A>G (p.Glu564Gly)
c.2411A>G (p.Glu804Gly)
c.2693-169A>G (n.2693-169A>G)
c.2561A>G (p.Glu854Gly)
c.2534A>G (p.Glu845Gly)
 ClinVar dbSNP gnomAD v4
7g.150947860T>GCA369853537KCNH2n.3544A>C
c.2711A>C (p.Glu904Ala)
c.1691A>C (p.Glu564Ala)
c.2411A>C (p.Glu804Ala)
c.2693-169A>C (n.2693-169A>C)
c.2561A>C (p.Glu854Ala)
c.2534A>C (p.Glu845Ala)
7g.150947860T=CA1752430506KCNH2n.3544A=
c.2711A= (p.Glu904=)
c.1691A= (p.Glu564=)
c.2411A= (p.Glu804=)
c.2693-169A= (n.2693-169A=)
c.2561A= (p.Glu854=)
c.2534A= (p.Glu845=)
7g.150947861C>ACA369853538KCNH2n.3543G>T
c.2710G>T (p.Glu904Ter)
c.1690G>T (p.Glu564Ter)
c.2410G>T (p.Glu804Ter)
c.2693-170G>T (n.2693-170G>T)
c.2560G>T (p.Glu854Ter)
c.2533G>T (p.Glu845Ter)
7g.150947861C=CA1752430513KCNH2n.3543G=
c.2710G= (p.Glu904=)
c.1690G= (p.Glu564=)
c.2410G= (p.Glu804=)
c.2693-170G= (n.2693-170G=)
c.2560G= (p.Glu854=)
c.2533G= (p.Glu845=)
7g.150947861C>GCA369853539KCNH2n.3543G>C
c.2710G>C (p.Glu904Gln)
c.1690G>C (p.Glu564Gln)
c.2410G>C (p.Glu804Gln)
c.2693-170G>C (n.2693-170G>C)
c.2560G>C (p.Glu854Gln)
c.2533G>C (p.Glu845Gln)
7g.150947861C>TCA369853540KCNH2n.3543G>A
c.2710G>A (p.Glu904Lys)
c.1690G>A (p.Glu564Lys)
c.2410G>A (p.Glu804Lys)
c.2693-170G>A (n.2693-170G>A)
c.2560G>A (p.Glu854Lys)
c.2533G>A (p.Glu845Lys)
 ClinVar dbSNP
7g.150947862C>ACA458870881KCNH2n.3542G>T
c.2709G>T (p.Gly903=)
c.1689G>T (p.Gly563=)
c.2409G>T (p.Gly803=)
c.2693-171G>T (n.2693-171G>T)
c.2559G>T (p.Gly853=)
c.2532G>T (p.Gly844=)
 gnomAD v4
7g.150947862C>GCA458870883KCNH2n.3542G>C
c.2709G>C (p.Gly903=)
c.1689G>C (p.Gly563=)
c.2409G>C (p.Gly803=)
c.2693-171G>C (n.2693-171G>C)
c.2559G>C (p.Gly853=)
c.2532G>C (p.Gly844=)
 gnomAD v4
7g.150947862C>TCA458870885KCNH2n.3542G>A
c.2709G>A (p.Gly903=)
c.1689G>A (p.Gly563=)
c.2409G>A (p.Gly803=)
c.2693-171G>A (n.2693-171G>A)
c.2559G>A (p.Gly853=)
c.2532G>A (p.Gly844=)
7g.150947863C>ACA369853541KCNH2n.3541G>T
c.2708G>T (p.Gly903Val)
c.1688G>T (p.Gly563Val)
c.2408G>T (p.Gly803Val)
c.2693-172G>T (n.2693-172G>T)
c.2558G>T (p.Gly853Val)
c.2531G>T (p.Gly844Val)
 gnomAD v4
7g.150947863C>GCA369853542KCNH2n.3541G>C
c.2708G>C (p.Gly903Ala)
c.1688G>C (p.Gly563Ala)
c.2408G>C (p.Gly803Ala)
c.2693-172G>C (n.2693-172G>C)
c.2558G>C (p.Gly853Ala)
c.2531G>C (p.Gly844Ala)
7g.150947863C>TCA369853543KCNH2n.3541G>A
c.2708G>A (p.Gly903Glu)
c.1688G>A (p.Gly563Glu)
c.2408G>A (p.Gly803Glu)
c.2693-172G>A (n.2693-172G>A)
c.2558G>A (p.Gly853Glu)
c.2531G>A (p.Gly844Glu)
 gnomAD v4
7g.150947864C>ACA369853544KCNH2n.3540G>T
c.2707G>T (p.Gly903Trp)
c.1687G>T (p.Gly563Trp)
c.2407G>T (p.Gly803Trp)
c.2693-173G>T (n.2693-173G>T)
c.2557G>T (p.Gly853Trp)
c.2530G>T (p.Gly844Trp)
 gnomAD v4
7g.150947864C=CA1752430515KCNH2n.3540G=
c.2707G= (p.Gly903=)
c.1687G= (p.Gly563=)
c.2407G= (p.Gly803=)
c.2693-173G= (n.2693-173G=)
c.2557G= (p.Gly853=)
c.2530G= (p.Gly844=)
7g.150947864C>GCA369853545KCNH2n.3540G>C
c.2707G>C (p.Gly903Arg)
c.1687G>C (p.Gly563Arg)
c.2407G>C (p.Gly803Arg)
c.2693-173G>C (n.2693-173G>C)
c.2557G>C (p.Gly853Arg)
c.2530G>C (p.Gly844Arg)
 ClinVar dbSNP
7g.150947864C>TCA007192KCNH2n.3540G>A
c.2707G>A (p.Gly903Arg)
c.1687G>A (p.Gly563Arg)
c.2407G>A (p.Gly803Arg)
c.2693-173G>A (n.2693-173G>A)
c.2557G>A (p.Gly853Arg)
c.2530G>A (p.Gly844Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947865T>ACA458870892KCNH2n.3539A>T
c.2706A>T (p.Pro902=)
c.1686A>T (p.Pro562=)
c.2406A>T (p.Pro802=)
c.2693-174A>T (n.2693-174A>T)
c.2556A>T (p.Pro852=)
c.2529A>T (p.Pro843=)
7g.150947865T>CCA458870894KCNH2n.3539A>G
c.2706A>G (p.Pro902=)
c.1686A>G (p.Pro562=)
c.2406A>G (p.Pro802=)
c.2693-174A>G (n.2693-174A>G)
c.2556A>G (p.Pro852=)
c.2529A>G (p.Pro843=)
 dbSNP gnomAD v3 gnomAD v4
7g.150947865T>GCA458870895KCNH2n.3539A>C
c.2706A>C (p.Pro902=)
c.1686A>C (p.Pro562=)
c.2406A>C (p.Pro802=)
c.2693-174A>C (n.2693-174A>C)
c.2556A>C (p.Pro852=)
c.2529A>C (p.Pro843=)
7g.150947865T=CA1752430520KCNH2n.3539A=
c.2706A= (p.Pro902=)
c.1686A= (p.Pro562=)
c.2406A= (p.Pro802=)
c.2693-174A= (n.2693-174A=)
c.2556A= (p.Pro852=)
c.2529A= (p.Pro843=)
7g.150947865dupCA2695208811KCNH2n.3539dup
c.2706dup (p.Gly903ArgfsTer17)
c.1686dup (p.Gly563ArgfsTer17)
c.2406dup (p.Gly803ArgfsTer17)
c.2693-174dup (n.2693-174dup)
c.2556dup (p.Gly853ArgfsTer17)
c.2529dup (p.Gly844ArgfsTer17)
7g.150947865_150947866delinsTGCA1752430518KCNH2n.3538_3539delinsCA
c.2705_2706delinsCA (p.Pro902=)
c.1685_1686delinsCA (p.Pro562=)
c.2405_2406delinsCA (p.Pro802=)
c.2693-175_2693-174delinsCA (n.2693-175_2693-174delinsCA)
c.2555_2556delinsCA (p.Pro852=)
c.2528_2529delinsCA (p.Pro843=)
7g.150947866G>ACA369853548KCNH2n.3538C>T
c.2705C>T (p.Pro902Leu)
c.1685C>T (p.Pro562Leu)
c.2405C>T (p.Pro802Leu)
c.2693-175C>T (n.2693-175C>T)
c.2555C>T (p.Pro852Leu)
c.2528C>T (p.Pro843Leu)
 ClinVar gnomAD v4
7g.150947866G>CCA369853547KCNH2n.3538C>G
c.2705C>G (p.Pro902Arg)
c.1685C>G (p.Pro562Arg)
c.2405C>G (p.Pro802Arg)
c.2693-175C>G (n.2693-175C>G)
c.2555C>G (p.Pro852Arg)
c.2528C>G (p.Pro843Arg)
7g.150947866G>TCA369853546KCNH2n.3538C>A
c.2705C>A (p.Pro902Gln)
c.1685C>A (p.Pro562Gln)
c.2405C>A (p.Pro802Gln)
c.2693-175C>A (n.2693-175C>A)
c.2555C>A (p.Pro852Gln)
c.2528C>A (p.Pro843Gln)
 gnomAD v4
7g.150947867delCA658761322KCNH2n.3538del
c.2705del (p.Pro902GlnfsTer?)
c.1685del (p.Pro562GlnfsTer?)
c.2405del (p.Pro802GlnfsTer?)
c.2693-175del (n.2693-175del)
c.2555del (p.Pro852GlnfsTer?)
c.2528del (p.Pro843GlnfsTer?)
 ClinVar dbSNP
7g.150947867G>ACA369853549KCNH2n.3537C>T
c.2704C>T (p.Pro902Ser)
c.1684C>T (p.Pro562Ser)
c.2404C>T (p.Pro802Ser)
c.2693-176C>T (n.2693-176C>T)
c.2554C>T (p.Pro852Ser)
c.2527C>T (p.Pro843Ser)
 ClinVar gnomAD v4
7g.150947867G>CCA369853551KCNH2n.3537C>G
c.2704C>G (p.Pro902Ala)
c.1684C>G (p.Pro562Ala)
c.2404C>G (p.Pro802Ala)
c.2693-176C>G (n.2693-176C>G)
c.2554C>G (p.Pro852Ala)
c.2527C>G (p.Pro843Ala)
 gnomAD v4
7g.150947867G>TCA369853550KCNH2n.3537C>A
c.2704C>A (p.Pro902Thr)
c.1684C>A (p.Pro562Thr)
c.2404C>A (p.Pro802Thr)
c.2693-176C>A (n.2693-176C>A)
c.2554C>A (p.Pro852Thr)
c.2527C>A (p.Pro843Thr)
 gnomAD v4
7g.150947868delCA2579062482KCNH2n.3536del
c.2703del (p.Gln901HisfsTer?)
c.1683del (p.Gln561HisfsTer?)
c.2403del (p.Gln801HisfsTer?)
c.2693-177del (n.2693-177del)
c.2553del (p.Gln851HisfsTer?)
c.2526del (p.Gln842HisfsTer?)
7g.150947868C>ACA369853552KCNH2n.3536G>T
c.2703G>T (p.Gln901His)
c.1683G>T (p.Gln561His)
c.2403G>T (p.Gln801His)
c.2693-177G>T (n.2693-177G>T)
c.2553G>T (p.Gln851His)
c.2526G>T (p.Gln842His)
 gnomAD v4
7g.150947868C>GCA369853553KCNH2n.3536G>C
c.2703G>C (p.Gln901His)
c.1683G>C (p.Gln561His)
c.2403G>C (p.Gln801His)
c.2693-177G>C (n.2693-177G>C)
c.2553G>C (p.Gln851His)
c.2526G>C (p.Gln842His)
7g.150947868C>TCA458870899KCNH2n.3536G>A
c.2703G>A (p.Gln901=)
c.1683G>A (p.Gln561=)
c.2403G>A (p.Gln801=)
c.2693-177G>A (n.2693-177G>A)
c.2553G>A (p.Gln851=)
c.2526G>A (p.Gln842=)

Number of alleles fetched