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.150947723_150947735delCA2580077744KCNH2n.3673_3685del
c.2840_2852del (p.Gly947AlafsTer23)
c.1820_1832del (p.Gly607AlafsTer23)
c.2540_2552del (p.Gly847AlafsTer23)
c.2693-40_2693-28del (n.2693-40_2693-28del)
c.2690_2702del (p.Gly897AlafsTer23)
c.2663_2675del (p.Gly888AlafsTer23)
 ClinVar
7g.150947729_150947752delCA2579062904KCNH2n.3656_3679del
c.2823_2846del (p.Glu942_Ser949del)
c.1803_1826del (p.Glu602_Ser609del)
c.2523_2546del (p.Glu842_Ser849del)
c.2693-57_2693-34del (n.2693-57_2693-34del)
c.2673_2696del (p.Glu892_Ser899del)
c.2646_2669del (p.Glu883_Ser890del)
 ClinVar gnomAD v4
7g.150947734G>ACA369853291KCNH2n.3670C>T
c.2837C>T (p.Pro946Leu)
c.1817C>T (p.Pro606Leu)
c.2537C>T (p.Pro846Leu)
c.2693-43C>T (n.2693-43C>T)
c.2687C>T (p.Pro896Leu)
c.2660C>T (p.Pro887Leu)
 ClinVar dbSNP gnomAD v4
7g.150947734G>CCA369853292KCNH2n.3670C>G
c.2837C>G (p.Pro946Arg)
c.1817C>G (p.Pro606Arg)
c.2537C>G (p.Pro846Arg)
c.2693-43C>G (n.2693-43C>G)
c.2687C>G (p.Pro896Arg)
c.2660C>G (p.Pro887Arg)
7g.150947734G=CA1752430139KCNH2n.3670C=
c.2837C= (p.Pro946=)
c.1817C= (p.Pro606=)
c.2537C= (p.Pro846=)
c.2693-43C= (n.2693-43C=)
c.2687C= (p.Pro896=)
c.2660C= (p.Pro887=)
7g.150947734G>TCA369853293KCNH2n.3670C>A
c.2837C>A (p.Pro946Gln)
c.1817C>A (p.Pro606Gln)
c.2537C>A (p.Pro846Gln)
c.2693-43C>A (n.2693-43C>A)
c.2687C>A (p.Pro896Gln)
c.2660C>A (p.Pro887Gln)
 gnomAD v4
7g.150947735G>ACA369853294KCNH2n.3669C>T
c.2836C>T (p.Pro946Ser)
c.1816C>T (p.Pro606Ser)
c.2536C>T (p.Pro846Ser)
c.2693-44C>T (n.2693-44C>T)
c.2686C>T (p.Pro896Ser)
c.2659C>T (p.Pro887Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.150947735G>CCA369853295KCNH2n.3669C>G
c.2836C>G (p.Pro946Ala)
c.1816C>G (p.Pro606Ala)
c.2536C>G (p.Pro846Ala)
c.2693-44C>G (n.2693-44C>G)
c.2686C>G (p.Pro896Ala)
c.2659C>G (p.Pro887Ala)
7g.150947735G=CA1752430140KCNH2n.3669C=
c.2836C= (p.Pro946=)
c.1816C= (p.Pro606=)
c.2536C= (p.Pro846=)
c.2693-44C= (n.2693-44C=)
c.2686C= (p.Pro896=)
c.2659C= (p.Pro887=)
7g.150947735G>TCA369853296KCNH2n.3669C>A
c.2836C>A (p.Pro946Thr)
c.1816C>A (p.Pro606Thr)
c.2536C>A (p.Pro846Thr)
c.2693-44C>A (n.2693-44C>A)
c.2686C>A (p.Pro896Thr)
c.2659C>A (p.Pro887Thr)
 gnomAD v4
7g.150947736G>ACA458871032KCNH2n.3668C>T
c.2835C>T (p.Gly945=)
c.1815C>T (p.Gly605=)
c.2535C>T (p.Gly845=)
c.2693-45C>T (n.2693-45C>T)
c.2685C>T (p.Gly895=)
c.2658C>T (p.Gly886=)
 gnomAD v4
7g.150947736G>CCA034993KCNH2n.3668C>G
c.2835C>G (p.Gly945=)
c.1815C>G (p.Gly605=)
c.2535C>G (p.Gly845=)
c.2693-45C>G (n.2693-45C>G)
c.2685C>G (p.Gly895=)
c.2658C>G (p.Gly886=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947736G=CA1752430141KCNH2n.3668C=
c.2835C= (p.Gly945=)
c.1815C= (p.Gly605=)
c.2535C= (p.Gly845=)
c.2693-45C= (n.2693-45C=)
c.2685C= (p.Gly895=)
c.2658C= (p.Gly886=)
7g.150947736G>TCA458871031KCNH2n.3668C>A
c.2835C>A (p.Gly945=)
c.1815C>A (p.Gly605=)
c.2535C>A (p.Gly845=)
c.2693-45C>A (n.2693-45C>A)
c.2685C>A (p.Gly895=)
c.2658C>A (p.Gly886=)
 gnomAD v4
7g.150947737C>ACA369853297KCNH2n.3667G>T
c.2834G>T (p.Gly945Val)
c.1814G>T (p.Gly605Val)
c.2534G>T (p.Gly845Val)
c.2693-46G>T (n.2693-46G>T)
c.2684G>T (p.Gly895Val)
c.2657G>T (p.Gly886Val)
 gnomAD v4
7g.150947737C=CA1752430144KCNH2n.3667G=
c.2834G= (p.Gly945=)
c.1814G= (p.Gly605=)
c.2534G= (p.Gly845=)
c.2693-46G= (n.2693-46G=)
c.2684G= (p.Gly895=)
c.2657G= (p.Gly886=)
7g.150947737C>GCA369853298KCNH2n.3667G>C
c.2834G>C (p.Gly945Ala)
c.1814G>C (p.Gly605Ala)
c.2534G>C (p.Gly845Ala)
c.2693-46G>C (n.2693-46G>C)
c.2684G>C (p.Gly895Ala)
c.2657G>C (p.Gly886Ala)
7g.150947737C>TCA034981KCNH2n.3667G>A
c.2834G>A (p.Gly945Asp)
c.1814G>A (p.Gly605Asp)
c.2534G>A (p.Gly845Asp)
c.2693-46G>A (n.2693-46G>A)
c.2684G>A (p.Gly895Asp)
c.2657G>A (p.Gly886Asp)
 ClinVar dbSNP ExAC gnomAD v2
7g.150947738_150947739dupCA2685602127KCNH2n.3666_3667dup
c.2833_2834dup (p.Pro946AlafsTer29)
c.1813_1814dup (p.Pro606AlafsTer29)
c.2533_2534dup (p.Pro846AlafsTer29)
c.2693-47_2693-46dup (n.2693-47_2693-46dup)
c.2683_2684dup (p.Pro896AlafsTer29)
c.2656_2657dup (p.Pro887AlafsTer29)
 gnomAD v4
7g.150947739delCA2685602126KCNH2n.3667del
c.2834del (p.Gly945AlafsTer29)
c.1814del (p.Gly605AlafsTer29)
c.2534del (p.Gly845AlafsTer29)
c.2693-46del (n.2693-46del)
c.2684del (p.Gly895AlafsTer29)
c.2657del (p.Gly886AlafsTer29)
 gnomAD v4
7g.150947738C>ACA369853299KCNH2n.3666G>T
c.2833G>T (p.Gly945Cys)
c.1813G>T (p.Gly605Cys)
c.2533G>T (p.Gly845Cys)
c.2693-47G>T (n.2693-47G>T)
c.2683G>T (p.Gly895Cys)
c.2656G>T (p.Gly886Cys)
 ClinVar dbSNP gnomAD v4
7g.150947738C=CA1752430145KCNH2n.3666G=
c.2833G= (p.Gly945=)
c.1813G= (p.Gly605=)
c.2533G= (p.Gly845=)
c.2693-47G= (n.2693-47G=)
c.2683G= (p.Gly895=)
c.2656G= (p.Gly886=)
7g.150947738C>GCA369853300KCNH2n.3666G>C
c.2833G>C (p.Gly945Arg)
c.1813G>C (p.Gly605Arg)
c.2533G>C (p.Gly845Arg)
c.2693-47G>C (n.2693-47G>C)
c.2683G>C (p.Gly895Arg)
c.2656G>C (p.Gly886Arg)
 gnomAD v4
7g.150947738C>TCA369853301KCNH2n.3666G>A
c.2833G>A (p.Gly945Ser)
c.1813G>A (p.Gly605Ser)
c.2533G>A (p.Gly845Ser)
c.2693-47G>A (n.2693-47G>A)
c.2683G>A (p.Gly895Ser)
c.2656G>A (p.Gly886Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.150947739C>ACA369853302KCNH2n.3665G>T
c.2832G>T (p.Glu944Asp)
c.1812G>T (p.Glu604Asp)
c.2532G>T (p.Glu844Asp)
c.2693-48G>T (n.2693-48G>T)
c.2682G>T (p.Glu894Asp)
c.2655G>T (p.Glu885Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947739C=CA1752430146KCNH2n.3665G=
c.2832G= (p.Glu944=)
c.1812G= (p.Glu604=)
c.2532G= (p.Glu844=)
c.2693-48G= (n.2693-48G=)
c.2682G= (p.Glu894=)
c.2655G= (p.Glu885=)
7g.150947739C>GCA369853303KCNH2n.3665G>C
c.2832G>C (p.Glu944Asp)
c.1812G>C (p.Glu604Asp)
c.2532G>C (p.Glu844Asp)
c.2693-48G>C (n.2693-48G>C)
c.2682G>C (p.Glu894Asp)
c.2655G>C (p.Glu885Asp)
 ClinVar dbSNP gnomAD v4
7g.150947739C>TCA458871040KCNH2n.3665G>A
c.2832G>A (p.Glu944=)
c.1812G>A (p.Glu604=)
c.2532G>A (p.Glu844=)
c.2693-48G>A (n.2693-48G>A)
c.2682G>A (p.Glu894=)
c.2655G>A (p.Glu885=)
 gnomAD v4
7g.150947740T>ACA369853304KCNH2n.3664A>T
c.2831A>T (p.Glu944Val)
c.1811A>T (p.Glu604Val)
c.2531A>T (p.Glu844Val)
c.2693-49A>T (n.2693-49A>T)
c.2681A>T (p.Glu894Val)
c.2654A>T (p.Glu885Val)
7g.150947740T>CCA369853305KCNH2n.3664A>G
c.2831A>G (p.Glu944Gly)
c.1811A>G (p.Glu604Gly)
c.2531A>G (p.Glu844Gly)
c.2693-49A>G (n.2693-49A>G)
c.2681A>G (p.Glu894Gly)
c.2654A>G (p.Glu885Gly)
7g.150947740T>GCA369853306KCNH2n.3664A>C
c.2831A>C (p.Glu944Ala)
c.1811A>C (p.Glu604Ala)
c.2531A>C (p.Glu844Ala)
c.2693-49A>C (n.2693-49A>C)
c.2681A>C (p.Glu894Ala)
c.2654A>C (p.Glu885Ala)
7g.150947741C>ACA369853307KCNH2n.3663G>T
c.2830G>T (p.Glu944Ter)
c.1810G>T (p.Glu604Ter)
c.2530G>T (p.Glu844Ter)
c.2693-50G>T (n.2693-50G>T)
c.2680G>T (p.Glu894Ter)
c.2653G>T (p.Glu885Ter)
 gnomAD v4
7g.150947741C=CA1752430151KCNH2n.3663G=
c.2830G= (p.Glu944=)
c.1810G= (p.Glu604=)
c.2530G= (p.Glu844=)
c.2693-50G= (n.2693-50G=)
c.2680G= (p.Glu894=)
c.2653G= (p.Glu885=)
7g.150947741C>GCA369853308KCNH2n.3663G>C
c.2830G>C (p.Glu944Gln)
c.1810G>C (p.Glu604Gln)
c.2530G>C (p.Glu844Gln)
c.2693-50G>C (n.2693-50G>C)
c.2680G>C (p.Glu894Gln)
c.2653G>C (p.Glu885Gln)
7g.150947741C>TCA369853309KCNH2n.3663G>A
c.2830G>A (p.Glu944Lys)
c.1810G>A (p.Glu604Lys)
c.2530G>A (p.Glu844Lys)
c.2693-50G>A (n.2693-50G>A)
c.2680G>A (p.Glu894Lys)
c.2653G>A (p.Glu885Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.150947742A=CA1752430154KCNH2n.3662T=
c.2829T= (p.Asp943=)
c.1809T= (p.Asp603=)
c.2529T= (p.Asp843=)
c.2693-51T= (n.2693-51T=)
c.2679T= (p.Asp893=)
c.2652T= (p.Asp884=)
7g.150947742A>CCA369853310KCNH2n.3662T>G
c.2829T>G (p.Asp943Glu)
c.1809T>G (p.Asp603Glu)
c.2529T>G (p.Asp843Glu)
c.2693-51T>G (n.2693-51T>G)
c.2679T>G (p.Asp893Glu)
c.2652T>G (p.Asp884Glu)
7g.150947742A>GCA458871043KCNH2n.3662T>C
c.2829T>C (p.Asp943=)
c.1809T>C (p.Asp603=)
c.2529T>C (p.Asp843=)
c.2693-51T>C (n.2693-51T>C)
c.2679T>C (p.Asp893=)
c.2652T>C (p.Asp884=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947742A>TCA369853311KCNH2n.3662T>A
c.2829T>A (p.Asp943Glu)
c.1809T>A (p.Asp603Glu)
c.2529T>A (p.Asp843Glu)
c.2693-51T>A (n.2693-51T>A)
c.2679T>A (p.Asp893Glu)
c.2652T>A (p.Asp884Glu)
 gnomAD v4
7g.150947743T>ACA369853312KCNH2n.3661A>T
c.2828A>T (p.Asp943Val)
c.1808A>T (p.Asp603Val)
c.2528A>T (p.Asp843Val)
c.2693-52A>T (n.2693-52A>T)
c.2678A>T (p.Asp893Val)
c.2651A>T (p.Asp884Val)
7g.150947743T>CCA369853313KCNH2n.3661A>G
c.2828A>G (p.Asp943Gly)
c.1808A>G (p.Asp603Gly)
c.2528A>G (p.Asp843Gly)
c.2693-52A>G (n.2693-52A>G)
c.2678A>G (p.Asp893Gly)
c.2651A>G (p.Asp884Gly)
7g.150947743T>GCA369853314KCNH2n.3661A>C
c.2828A>C (p.Asp943Ala)
c.1808A>C (p.Asp603Ala)
c.2528A>C (p.Asp843Ala)
c.2693-52A>C (n.2693-52A>C)
c.2678A>C (p.Asp893Ala)
c.2651A>C (p.Asp884Ala)
7g.150947744C>ACA369853316KCNH2n.3660G>T
c.2827G>T (p.Asp943Tyr)
c.1807G>T (p.Asp603Tyr)
c.2527G>T (p.Asp843Tyr)
c.2693-53G>T (n.2693-53G>T)
c.2677G>T (p.Asp893Tyr)
c.2650G>T (p.Asp884Tyr)
 gnomAD v4
7g.150947744C=CA1752430157KCNH2n.3660G=
c.2827G= (p.Asp943=)
c.1807G= (p.Asp603=)
c.2527G= (p.Asp843=)
c.2693-53G= (n.2693-53G=)
c.2677G= (p.Asp893=)
c.2650G= (p.Asp884=)
7g.150947744C>GCA369853315KCNH2n.3660G>C
c.2827G>C (p.Asp943His)
c.1807G>C (p.Asp603His)
c.2527G>C (p.Asp843His)
c.2693-53G>C (n.2693-53G>C)
c.2677G>C (p.Asp893His)
c.2650G>C (p.Asp884His)
7g.150947744C>TCA169072562KCNH2n.3660G>A
c.2827G>A (p.Asp943Asn)
c.1807G>A (p.Asp603Asn)
c.2527G>A (p.Asp843Asn)
c.2693-53G>A (n.2693-53G>A)
c.2677G>A (p.Asp893Asn)
c.2650G>A (p.Asp884Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
7g.150947745C>ACA369853318KCNH2n.3659G>T
c.2826G>T (p.Glu942Asp)
c.1806G>T (p.Glu602Asp)
c.2526G>T (p.Glu842Asp)
c.2693-54G>T (n.2693-54G>T)
c.2676G>T (p.Glu892Asp)
c.2649G>T (p.Glu883Asp)
 dbSNP gnomAD v4
7g.150947745C=CA1752430159KCNH2n.3659G=
c.2826G= (p.Glu942=)
c.1806G= (p.Glu602=)
c.2526G= (p.Glu842=)
c.2693-54G= (n.2693-54G=)
c.2676G= (p.Glu892=)
c.2649G= (p.Glu883=)
7g.150947745C>GCA369853317KCNH2n.3659G>C
c.2826G>C (p.Glu942Asp)
c.1806G>C (p.Glu602Asp)
c.2526G>C (p.Glu842Asp)
c.2693-54G>C (n.2693-54G>C)
c.2676G>C (p.Glu892Asp)
c.2649G>C (p.Glu883Asp)
7g.150947745C>TCA458871046KCNH2n.3659G>A
c.2826G>A (p.Glu942=)
c.1806G>A (p.Glu602=)
c.2526G>A (p.Glu842=)
c.2693-54G>A (n.2693-54G>A)
c.2676G>A (p.Glu892=)
c.2649G>A (p.Glu883=)
7g.150947746T>ACA369853319KCNH2n.3658A>T
c.2825A>T (p.Glu942Val)
c.1805A>T (p.Glu602Val)
c.2525A>T (p.Glu842Val)
c.2693-55A>T (n.2693-55A>T)
c.2675A>T (p.Glu892Val)
c.2648A>T (p.Glu883Val)
 gnomAD v4
7g.150947746T>CCA369853320KCNH2n.3658A>G
c.2825A>G (p.Glu942Gly)
c.1805A>G (p.Glu602Gly)
c.2525A>G (p.Glu842Gly)
c.2693-55A>G (n.2693-55A>G)
c.2675A>G (p.Glu892Gly)
c.2648A>G (p.Glu883Gly)
7g.150947746T>GCA369853321KCNH2n.3658A>C
c.2825A>C (p.Glu942Ala)
c.1805A>C (p.Glu602Ala)
c.2525A>C (p.Glu842Ala)
c.2693-55A>C (n.2693-55A>C)
c.2675A>C (p.Glu892Ala)
c.2648A>C (p.Glu883Ala)
7g.150947747C>ACA369853322KCNH2n.3657G>T
c.2824G>T (p.Glu942Ter)
c.1804G>T (p.Glu602Ter)
c.2524G>T (p.Glu842Ter)
c.2693-56G>T (n.2693-56G>T)
c.2674G>T (p.Glu892Ter)
c.2647G>T (p.Glu883Ter)
 gnomAD v4
7g.150947747C>GCA369853323KCNH2n.3657G>C
c.2824G>C (p.Glu942Gln)
c.1804G>C (p.Glu602Gln)
c.2524G>C (p.Glu842Gln)
c.2693-56G>C (n.2693-56G>C)
c.2674G>C (p.Glu892Gln)
c.2647G>C (p.Glu883Gln)
7g.150947747C>TCA369853324KCNH2n.3657G>A
c.2824G>A (p.Glu942Lys)
c.1804G>A (p.Glu602Lys)
c.2524G>A (p.Glu842Lys)
c.2693-56G>A (n.2693-56G>A)
c.2674G>A (p.Glu892Lys)
c.2647G>A (p.Glu883Lys)
 gnomAD v4
7g.150947748A=CA1752430162KCNH2n.3656T=
c.2823T= (p.Ser941=)
c.1803T= (p.Ser601=)
c.2523T= (p.Ser841=)
c.2693-57T= (n.2693-57T=)
c.2673T= (p.Ser891=)
c.2646T= (p.Ser882=)
7g.150947748A>CCA369853325KCNH2n.3656T>G
c.2823T>G (p.Ser941Arg)
c.1803T>G (p.Ser601Arg)
c.2523T>G (p.Ser841Arg)
c.2693-57T>G (n.2693-57T>G)
c.2673T>G (p.Ser891Arg)
c.2646T>G (p.Ser882Arg)
7g.150947748A>GCA458871051KCNH2n.3656T>C
c.2823T>C (p.Ser941=)
c.1803T>C (p.Ser601=)
c.2523T>C (p.Ser841=)
c.2693-57T>C (n.2693-57T>C)
c.2673T>C (p.Ser891=)
c.2646T>C (p.Ser882=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947748A>TCA369853326KCNH2n.3656T>A
c.2823T>A (p.Ser941Arg)
c.1803T>A (p.Ser601Arg)
c.2523T>A (p.Ser841Arg)
c.2693-57T>A (n.2693-57T>A)
c.2673T>A (p.Ser891Arg)
c.2646T>A (p.Ser882Arg)
7g.150947749C>ACA369853327KCNH2n.3655G>T
c.2822G>T (p.Ser941Ile)
c.1802G>T (p.Ser601Ile)
c.2522G>T (p.Ser841Ile)
c.2693-58G>T (n.2693-58G>T)
c.2672G>T (p.Ser891Ile)
c.2645G>T (p.Ser882Ile)
7g.150947749C>GCA369853328KCNH2n.3655G>C
c.2822G>C (p.Ser941Thr)
c.1802G>C (p.Ser601Thr)
c.2522G>C (p.Ser841Thr)
c.2693-58G>C (n.2693-58G>C)
c.2672G>C (p.Ser891Thr)
c.2645G>C (p.Ser882Thr)
7g.150947749C>TCA369853329KCNH2n.3655G>A
c.2822G>A (p.Ser941Asn)
c.1802G>A (p.Ser601Asn)
c.2522G>A (p.Ser841Asn)
c.2693-58G>A (n.2693-58G>A)
c.2672G>A (p.Ser891Asn)
c.2645G>A (p.Ser882Asn)
7g.150947750T>ACA369853332KCNH2n.3654A>T
c.2821A>T (p.Ser941Cys)
c.1801A>T (p.Ser601Cys)
c.2521A>T (p.Ser841Cys)
c.2693-59A>T (n.2693-59A>T)
c.2671A>T (p.Ser891Cys)
c.2644A>T (p.Ser882Cys)
7g.150947750T>CCA369853331KCNH2n.3654A>G
c.2821A>G (p.Ser941Gly)
c.1801A>G (p.Ser601Gly)
c.2521A>G (p.Ser841Gly)
c.2693-59A>G (n.2693-59A>G)
c.2671A>G (p.Ser891Gly)
c.2644A>G (p.Ser882Gly)
7g.150947750T>GCA369853330KCNH2n.3654A>C
c.2821A>C (p.Ser941Arg)
c.1801A>C (p.Ser601Arg)
c.2521A>C (p.Ser841Arg)
c.2693-59A>C (n.2693-59A>C)
c.2671A>C (p.Ser891Arg)
c.2644A>C (p.Ser882Arg)
7g.150947751G>ACA458871057KCNH2n.3653C>T
c.2820C>T (p.Ser940=)
c.1800C>T (p.Ser600=)
c.2520C>T (p.Ser840=)
c.2693-60C>T (n.2693-60C>T)
c.2670C>T (p.Ser890=)
c.2643C>T (p.Ser881=)
 gnomAD v4
7g.150947751G>CCA369853333KCNH2n.3653C>G
c.2820C>G (p.Ser940Arg)
c.1800C>G (p.Ser600Arg)
c.2520C>G (p.Ser840Arg)
c.2693-60C>G (n.2693-60C>G)
c.2670C>G (p.Ser890Arg)
c.2643C>G (p.Ser881Arg)
7g.150947751G>TCA369853334KCNH2n.3653C>A
c.2820C>A (p.Ser940Arg)
c.1800C>A (p.Ser600Arg)
c.2520C>A (p.Ser840Arg)
c.2693-60C>A (n.2693-60C>A)
c.2670C>A (p.Ser890Arg)
c.2643C>A (p.Ser881Arg)
 gnomAD v4
7g.150947752C>ACA369853335KCNH2n.3652G>T
c.2819G>T (p.Ser940Ile)
c.1799G>T (p.Ser600Ile)
c.2519G>T (p.Ser840Ile)
c.2693-61G>T (n.2693-61G>T)
c.2669G>T (p.Ser890Ile)
c.2642G>T (p.Ser881Ile)
 ClinVar dbSNP gnomAD v4
7g.150947752C=CA1752430169KCNH2n.3652G=
c.2819G= (p.Ser940=)
c.1799G= (p.Ser600=)
c.2519G= (p.Ser840=)
c.2693-61G= (n.2693-61G=)
c.2669G= (p.Ser890=)
c.2642G= (p.Ser881=)
7g.150947752C>GCA369853336KCNH2n.3652G>C
c.2819G>C (p.Ser940Thr)
c.1799G>C (p.Ser600Thr)
c.2519G>C (p.Ser840Thr)
c.2693-61G>C (n.2693-61G>C)
c.2669G>C (p.Ser890Thr)
c.2642G>C (p.Ser881Thr)
7g.150947752C>TCA369853337KCNH2n.3652G>A
c.2819G>A (p.Ser940Asn)
c.1799G>A (p.Ser600Asn)
c.2519G>A (p.Ser840Asn)
c.2693-61G>A (n.2693-61G>A)
c.2669G>A (p.Ser890Asn)
c.2642G>A (p.Ser881Asn)
7g.150947753T>ACA369853338KCNH2n.3651A>T
c.2818A>T (p.Ser940Cys)
c.1798A>T (p.Ser600Cys)
c.2518A>T (p.Ser840Cys)
c.2693-62A>T (n.2693-62A>T)
c.2668A>T (p.Ser890Cys)
c.2641A>T (p.Ser881Cys)
7g.150947753T>CCA369853339KCNH2n.3651A>G
c.2818A>G (p.Ser940Gly)
c.1798A>G (p.Ser600Gly)
c.2518A>G (p.Ser840Gly)
c.2693-62A>G (n.2693-62A>G)
c.2668A>G (p.Ser890Gly)
c.2641A>G (p.Ser881Gly)
 gnomAD v4
7g.150947753T>GCA369853340KCNH2n.3651A>C
c.2818A>C (p.Ser940Arg)
c.1798A>C (p.Ser600Arg)
c.2518A>C (p.Ser840Arg)
c.2693-62A>C (n.2693-62A>C)
c.2668A>C (p.Ser890Arg)
c.2641A>C (p.Ser881Arg)
7g.150947754C>ACA369853341KCNH2n.3650G>T
c.2817G>T (p.Glu939Asp)
c.1797G>T (p.Glu599Asp)
c.2517G>T (p.Glu839Asp)
c.2693-63G>T (n.2693-63G>T)
c.2667G>T (p.Glu889Asp)
c.2640G>T (p.Glu880Asp)
7g.150947754C>GCA369853342KCNH2n.3650G>C
c.2817G>C (p.Glu939Asp)
c.1797G>C (p.Glu599Asp)
c.2517G>C (p.Glu839Asp)
c.2693-63G>C (n.2693-63G>C)
c.2667G>C (p.Glu889Asp)
c.2640G>C (p.Glu880Asp)
 gnomAD v4
7g.150947754C>TCA458871063KCNH2n.3650G>A
c.2817G>A (p.Glu939=)
c.1797G>A (p.Glu599=)
c.2517G>A (p.Glu839=)
c.2693-63G>A (n.2693-63G>A)
c.2667G>A (p.Glu889=)
c.2640G>A (p.Glu880=)
7g.150947755T>ACA369853343KCNH2n.3649A>T
c.2816A>T (p.Glu939Val)
c.1796A>T (p.Glu599Val)
c.2516A>T (p.Glu839Val)
c.2693-64A>T (n.2693-64A>T)
c.2666A>T (p.Glu889Val)
c.2639A>T (p.Glu880Val)
7g.150947755T>CCA369853344KCNH2n.3649A>G
c.2816A>G (p.Glu939Gly)
c.1796A>G (p.Glu599Gly)
c.2516A>G (p.Glu839Gly)
c.2693-64A>G (n.2693-64A>G)
c.2666A>G (p.Glu889Gly)
c.2639A>G (p.Glu880Gly)
7g.150947755T>GCA369853345KCNH2n.3649A>C
c.2816A>C (p.Glu939Ala)
c.1796A>C (p.Glu599Ala)
c.2516A>C (p.Glu839Ala)
c.2693-64A>C (n.2693-64A>C)
c.2666A>C (p.Glu889Ala)
c.2639A>C (p.Glu880Ala)
7g.150947756C>ACA369853347KCNH2n.3648G>T
c.2815G>T (p.Glu939Ter)
c.1795G>T (p.Glu599Ter)
c.2515G>T (p.Glu839Ter)
c.2693-65G>T (n.2693-65G>T)
c.2665G>T (p.Glu889Ter)
c.2638G>T (p.Glu880Ter)
7g.150947756C>GCA369853348KCNH2n.3648G>C
c.2815G>C (p.Glu939Gln)
c.1795G>C (p.Glu599Gln)
c.2515G>C (p.Glu839Gln)
c.2693-65G>C (n.2693-65G>C)
c.2665G>C (p.Glu889Gln)
c.2638G>C (p.Glu880Gln)
7g.150947756C>TCA369853346KCNH2n.3648G>A
c.2815G>A (p.Glu939Lys)
c.1795G>A (p.Glu599Lys)
c.2515G>A (p.Glu839Lys)
c.2693-65G>A (n.2693-65G>A)
c.2665G>A (p.Glu889Lys)
c.2638G>A (p.Glu880Lys)
7g.150947757A=CA1752430172KCNH2n.3647T=
c.2814T= (p.Pro938=)
c.1794T= (p.Pro598=)
c.2514T= (p.Pro838=)
c.2693-66T= (n.2693-66T=)
c.2664T= (p.Pro888=)
c.2637T= (p.Pro879=)
7g.150947757A>CCA458871072KCNH2n.3647T>G
c.2814T>G (p.Pro938=)
c.1794T>G (p.Pro598=)
c.2514T>G (p.Pro838=)
c.2693-66T>G (n.2693-66T>G)
c.2664T>G (p.Pro888=)
c.2637T>G (p.Pro879=)
7g.150947757A>GCA458871076KCNH2n.3647T>C
c.2814T>C (p.Pro938=)
c.1794T>C (p.Pro598=)
c.2514T>C (p.Pro838=)
c.2693-66T>C (n.2693-66T>C)
c.2664T>C (p.Pro888=)
c.2637T>C (p.Pro879=)
 dbSNP gnomAD v4
7g.150947757A>TCA458871078KCNH2n.3647T>A
c.2814T>A (p.Pro938=)
c.1794T>A (p.Pro598=)
c.2514T>A (p.Pro838=)
c.2693-66T>A (n.2693-66T>A)
c.2664T>A (p.Pro888=)
c.2637T>A (p.Pro879=)
7g.150947758G>ACA369853349KCNH2n.3646C>T
c.2813C>T (p.Pro938Leu)
c.1793C>T (p.Pro598Leu)
c.2513C>T (p.Pro838Leu)
c.2693-67C>T (n.2693-67C>T)
c.2663C>T (p.Pro888Leu)
c.2636C>T (p.Pro879Leu)
7g.150947758G>CCA369853351KCNH2n.3646C>G
c.2813C>G (p.Pro938Arg)
c.1793C>G (p.Pro598Arg)
c.2513C>G (p.Pro838Arg)
c.2693-67C>G (n.2693-67C>G)
c.2663C>G (p.Pro888Arg)
c.2636C>G (p.Pro879Arg)
7g.150947758G>TCA369853350KCNH2n.3646C>A
c.2813C>A (p.Pro938His)
c.1793C>A (p.Pro598His)
c.2513C>A (p.Pro838His)
c.2693-67C>A (n.2693-67C>A)
c.2663C>A (p.Pro888His)
c.2636C>A (p.Pro879His)
 gnomAD v4
7g.150947759G>ACA369853352KCNH2n.3645C>T
c.2812C>T (p.Pro938Ser)
c.1792C>T (p.Pro598Ser)
c.2512C>T (p.Pro838Ser)
c.2693-68C>T (n.2693-68C>T)
c.2662C>T (p.Pro888Ser)
c.2635C>T (p.Pro879Ser)
7g.150947759G>CCA369853353KCNH2n.3645C>G
c.2812C>G (p.Pro938Ala)
c.1792C>G (p.Pro598Ala)
c.2512C>G (p.Pro838Ala)
c.2693-68C>G (n.2693-68C>G)
c.2662C>G (p.Pro888Ala)
c.2635C>G (p.Pro879Ala)
7g.150947759G=CA1752430173KCNH2n.3645C=
c.2812C= (p.Pro938=)
c.1792C= (p.Pro598=)
c.2512C= (p.Pro838=)
c.2693-68C= (n.2693-68C=)
c.2662C= (p.Pro888=)
c.2635C= (p.Pro879=)
7g.150947759G>TCA034931KCNH2n.3645C>A
c.2812C>A (p.Pro938Thr)
c.1792C>A (p.Pro598Thr)
c.2512C>A (p.Pro838Thr)
c.2693-68C>A (n.2693-68C>A)
c.2662C>A (p.Pro888Thr)
c.2635C>A (p.Pro879Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947760G>ACA458871081KCNH2n.3644C>T
c.2811C>T (p.Ser937=)
c.1791C>T (p.Ser597=)
c.2511C>T (p.Ser837=)
c.2693-69C>T (n.2693-69C>T)
c.2661C>T (p.Ser887=)
c.2634C>T (p.Ser878=)
 ClinVar gnomAD v4
7g.150947760G>CCA369853354KCNH2n.3644C>G
c.2811C>G (p.Ser937Arg)
c.1791C>G (p.Ser597Arg)
c.2511C>G (p.Ser837Arg)
c.2693-69C>G (n.2693-69C>G)
c.2661C>G (p.Ser887Arg)
c.2634C>G (p.Ser878Arg)
7g.150947760G>TCA369853355KCNH2n.3644C>A
c.2811C>A (p.Ser937Arg)
c.1791C>A (p.Ser597Arg)
c.2511C>A (p.Ser837Arg)
c.2693-69C>A (n.2693-69C>A)
c.2661C>A (p.Ser887Arg)
c.2634C>A (p.Ser878Arg)
 gnomAD v4
7g.150947761C>ACA369853356KCNH2n.3643G>T
c.2810G>T (p.Ser937Ile)
c.1790G>T (p.Ser597Ile)
c.2510G>T (p.Ser837Ile)
c.2693-70G>T (n.2693-70G>T)
c.2660G>T (p.Ser887Ile)
c.2633G>T (p.Ser878Ile)
 gnomAD v4
7g.150947761C=CA1752430182KCNH2n.3643G=
c.2810G= (p.Ser937=)
c.1790G= (p.Ser597=)
c.2510G= (p.Ser837=)
c.2693-70G= (n.2693-70G=)
c.2660G= (p.Ser887=)
c.2633G= (p.Ser878=)
7g.150947761C>GCA369853357KCNH2n.3643G>C
c.2810G>C (p.Ser937Thr)
c.1790G>C (p.Ser597Thr)
c.2510G>C (p.Ser837Thr)
c.2693-70G>C (n.2693-70G>C)
c.2660G>C (p.Ser887Thr)
c.2633G>C (p.Ser878Thr)
7g.150947761C>TCA007468KCNH2n.3643G>A
c.2810G>A (p.Ser937Asn)
c.1790G>A (p.Ser597Asn)
c.2510G>A (p.Ser837Asn)
c.2693-70G>A (n.2693-70G>A)
c.2660G>A (p.Ser887Asn)
c.2633G>A (p.Ser878Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947762T>ACA369853358KCNH2n.3642A>T
c.2809A>T (p.Ser937Cys)
c.1789A>T (p.Ser597Cys)
c.2509A>T (p.Ser837Cys)
c.2693-71A>T (n.2693-71A>T)
c.2659A>T (p.Ser887Cys)
c.2632A>T (p.Ser878Cys)
7g.150947762T>CCA369853359KCNH2n.3642A>G
c.2809A>G (p.Ser937Gly)
c.1789A>G (p.Ser597Gly)
c.2509A>G (p.Ser837Gly)
c.2693-71A>G (n.2693-71A>G)
c.2659A>G (p.Ser887Gly)
c.2632A>G (p.Ser878Gly)
7g.150947762T>GCA369853360KCNH2n.3642A>C
c.2809A>C (p.Ser937Arg)
c.1789A>C (p.Ser597Arg)
c.2509A>C (p.Ser837Arg)
c.2693-71A>C (n.2693-71A>C)
c.2659A>C (p.Ser887Arg)
c.2632A>C (p.Ser878Arg)
7g.150947763G>ACA16605073KCNH2n.3641C>T
c.2808C>T (p.Ser936=)
c.1788C>T (p.Ser596=)
c.2508C>T (p.Ser836=)
c.2693-72C>T (n.2693-72C>T)
c.2658C>T (p.Ser886=)
c.2631C>T (p.Ser877=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947763G>CCA458871084KCNH2n.3641C>G
c.2808C>G (p.Ser936=)
c.1788C>G (p.Ser596=)
c.2508C>G (p.Ser836=)
c.2693-72C>G (n.2693-72C>G)
c.2658C>G (p.Ser886=)
c.2631C>G (p.Ser877=)
7g.150947763G=CA1752430183KCNH2n.3641C=
c.2808C= (p.Ser936=)
c.1788C= (p.Ser596=)
c.2508C= (p.Ser836=)
c.2693-72C= (n.2693-72C=)
c.2658C= (p.Ser886=)
c.2631C= (p.Ser877=)
7g.150947763G>TCA458871085KCNH2n.3641C>A
c.2808C>A (p.Ser936=)
c.1788C>A (p.Ser596=)
c.2508C>A (p.Ser836=)
c.2693-72C>A (n.2693-72C>A)
c.2658C>A (p.Ser886=)
c.2631C>A (p.Ser877=)
 gnomAD v4
7g.150947764G>ACA369853363KCNH2n.3640C>T
c.2807C>T (p.Ser936Phe)
c.1787C>T (p.Ser596Phe)
c.2507C>T (p.Ser836Phe)
c.2693-73C>T (n.2693-73C>T)
c.2657C>T (p.Ser886Phe)
c.2630C>T (p.Ser877Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.150947764G>CCA369853361KCNH2n.3640C>G
c.2807C>G (p.Ser936Cys)
c.1787C>G (p.Ser596Cys)
c.2507C>G (p.Ser836Cys)
c.2693-73C>G (n.2693-73C>G)
c.2657C>G (p.Ser886Cys)
c.2630C>G (p.Ser877Cys)
 dbSNP gnomAD v3 gnomAD v4
7g.150947764G=CA1752430187KCNH2n.3640C=
c.2807C= (p.Ser936=)
c.1787C= (p.Ser596=)
c.2507C= (p.Ser836=)
c.2693-73C= (n.2693-73C=)
c.2657C= (p.Ser886=)
c.2630C= (p.Ser877=)
7g.150947764G>TCA369853362KCNH2n.3640C>A
c.2807C>A (p.Ser936Tyr)
c.1787C>A (p.Ser596Tyr)
c.2507C>A (p.Ser836Tyr)
c.2693-73C>A (n.2693-73C>A)
c.2657C>A (p.Ser886Tyr)
c.2630C>A (p.Ser877Tyr)
7g.150947765delCA2685602128KCNH2n.3639del
c.2806del (p.Ser936ProfsTer?)
c.1786del (p.Ser596ProfsTer?)
c.2506del (p.Ser836ProfsTer?)
c.2693-74del (n.2693-74del)
c.2656del (p.Ser886ProfsTer?)
c.2629del (p.Ser877ProfsTer?)
 gnomAD v4
7g.150947765A>CCA369853364KCNH2n.3639T>G
c.2806T>G (p.Ser936Ala)
c.1786T>G (p.Ser596Ala)
c.2506T>G (p.Ser836Ala)
c.2693-74T>G (n.2693-74T>G)
c.2656T>G (p.Ser886Ala)
c.2629T>G (p.Ser877Ala)
7g.150947765A>GCA369853365KCNH2n.3639T>C
c.2806T>C (p.Ser936Pro)
c.1786T>C (p.Ser596Pro)
c.2506T>C (p.Ser836Pro)
c.2693-74T>C (n.2693-74T>C)
c.2656T>C (p.Ser886Pro)
c.2629T>C (p.Ser877Pro)
7g.150947765A>TCA369853366KCNH2n.3639T>A
c.2806T>A (p.Ser936Thr)
c.1786T>A (p.Ser596Thr)
c.2506T>A (p.Ser836Thr)
c.2693-74T>A (n.2693-74T>A)
c.2656T>A (p.Ser886Thr)
c.2629T>A (p.Ser877Thr)
7g.150947766G>ACA458871092KCNH2n.3638C>T
c.2805C>T (p.Pro935=)
c.1785C>T (p.Pro595=)
c.2505C>T (p.Pro835=)
c.2693-75C>T (n.2693-75C>T)
c.2655C>T (p.Pro885=)
c.2628C>T (p.Pro876=)
7g.150947766G>CCA458871093KCNH2n.3638C>G
c.2805C>G (p.Pro935=)
c.1785C>G (p.Pro595=)
c.2505C>G (p.Pro835=)
c.2693-75C>G (n.2693-75C>G)
c.2655C>G (p.Pro885=)
c.2628C>G (p.Pro876=)
7g.150947766G>TCA458871095KCNH2n.3638C>A
c.2805C>A (p.Pro935=)
c.1785C>A (p.Pro595=)
c.2505C>A (p.Pro835=)
c.2693-75C>A (n.2693-75C>A)
c.2655C>A (p.Pro885=)
c.2628C>A (p.Pro876=)
7g.150947767G>ACA369853367KCNH2n.3637C>T
c.2804C>T (p.Pro935Leu)
c.1784C>T (p.Pro595Leu)
c.2504C>T (p.Pro835Leu)
c.2693-76C>T (n.2693-76C>T)
c.2654C>T (p.Pro885Leu)
c.2627C>T (p.Pro876Leu)
 ClinVar gnomAD v4
7g.150947767G>CCA369853368KCNH2n.3637C>G
c.2804C>G (p.Pro935Arg)
c.1784C>G (p.Pro595Arg)
c.2504C>G (p.Pro835Arg)
c.2693-76C>G (n.2693-76C>G)
c.2654C>G (p.Pro885Arg)
c.2627C>G (p.Pro876Arg)
7g.150947767G>TCA369853369KCNH2n.3637C>A
c.2804C>A (p.Pro935His)
c.1784C>A (p.Pro595His)
c.2504C>A (p.Pro835His)
c.2693-76C>A (n.2693-76C>A)
c.2654C>A (p.Pro885His)
c.2627C>A (p.Pro876His)
 ClinVar gnomAD v4
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

Number of alleles fetched