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.150947703_150947704insCTCCAGGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCA2499218788KCNH2n.3764_3765insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC
c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978LeufsTer?)
c.1911_1912insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu638LeufsTer?)
c.2631_2632insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu878LeufsTer?)
c.*11_*12insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC
c.2781_2782insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu928LeufsTer?)
c.2754_2755insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu919LeufsTer?)
 ClinVar
7g.150947692C>ACA369853212KCNH2n.3712G>T
c.2879G>T (p.Ser960Ile)
c.1859G>T (p.Ser620Ile)
c.2579G>T (p.Ser860Ile)
c.2693-1G>T (n.2693-1G>T)
c.2729G>T (p.Ser910Ile)
c.2702G>T (p.Ser901Ile)
 gnomAD v4
7g.150947692C=CA1752430064KCNH2n.3712G=
c.2879G= (p.Ser960=)
c.1859G= (p.Ser620=)
c.2579G= (p.Ser860=)
c.2693-1G= (n.2693-1G=)
c.2729G= (p.Ser910=)
c.2702G= (p.Ser901=)
7g.150947692C>GCA369853213KCNH2n.3712G>C
c.2879G>C (p.Ser960Thr)
c.1859G>C (p.Ser620Thr)
c.2579G>C (p.Ser860Thr)
c.2693-1G>C (n.2693-1G>C)
c.2729G>C (p.Ser910Thr)
c.2702G>C (p.Ser901Thr)
7g.150947692C>TCA007556KCNH2n.3712G>A
c.2879G>A (p.Ser960Asn)
c.1859G>A (p.Ser620Asn)
c.2579G>A (p.Ser860Asn)
c.2693-1G>A (n.2693-1G>A)
c.2729G>A (p.Ser910Asn)
c.2702G>A (p.Ser901Asn)
 ClinVar dbSNP gnomAD v4
7g.150947693T>ACA369853214KCNH2n.3711A>T
c.2878A>T (p.Ser960Cys)
c.1858A>T (p.Ser620Cys)
c.2578A>T (p.Ser860Cys)
c.2693-2A>T (n.2693-2A>T)
c.2728A>T (p.Ser910Cys)
c.2701A>T (p.Ser901Cys)
7g.150947693T>CCA369853215KCNH2n.3711A>G
c.2878A>G (p.Ser960Gly)
c.1858A>G (p.Ser620Gly)
c.2578A>G (p.Ser860Gly)
c.2693-2A>G (n.2693-2A>G)
c.2728A>G (p.Ser910Gly)
c.2701A>G (p.Ser901Gly)
7g.150947693T>GCA369853216KCNH2n.3711A>C
c.2878A>C (p.Ser960Arg)
c.1858A>C (p.Ser620Arg)
c.2578A>C (p.Ser860Arg)
c.2693-2A>C (n.2693-2A>C)
c.2728A>C (p.Ser910Arg)
c.2701A>C (p.Ser901Arg)
7g.150947694G>ACA458870943KCNH2n.3710C>T
c.2877C>T (p.Ser959=)
c.1857C>T (p.Ser619=)
c.2577C>T (p.Ser859=)
c.2693-3C>T (n.2693-3C>T)
c.2727C>T (p.Ser909=)
c.2700C>T (p.Ser900=)
 gnomAD v4
7g.150947694G>CCA458870944KCNH2n.3710C>G
c.2877C>G (p.Ser959=)
c.1857C>G (p.Ser619=)
c.2577C>G (p.Ser859=)
c.2693-3C>G (n.2693-3C>G)
c.2727C>G (p.Ser909=)
c.2700C>G (p.Ser900=)
7g.150947694G>TCA458870946KCNH2n.3710C>A
c.2877C>A (p.Ser959=)
c.1857C>A (p.Ser619=)
c.2577C>A (p.Ser859=)
c.2693-3C>A (n.2693-3C>A)
c.2727C>A (p.Ser909=)
c.2700C>A (p.Ser900=)
 gnomAD v4
7g.150947695G>ACA369853217KCNH2n.3709C>T
c.2876C>T (p.Ser959Phe)
c.1856C>T (p.Ser619Phe)
c.2576C>T (p.Ser859Phe)
c.2693-4C>T (n.2693-4C>T)
c.2726C>T (p.Ser909Phe)
c.2699C>T (p.Ser900Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947695G>CCA369853219KCNH2n.3709C>G
c.2876C>G (p.Ser959Cys)
c.1856C>G (p.Ser619Cys)
c.2576C>G (p.Ser859Cys)
c.2693-4C>G (n.2693-4C>G)
c.2726C>G (p.Ser909Cys)
c.2699C>G (p.Ser900Cys)
 ClinVar dbSNP
7g.150947695G=CA1752430069KCNH2n.3709C=
c.2876C= (p.Ser959=)
c.1856C= (p.Ser619=)
c.2576C= (p.Ser859=)
c.2693-4C= (n.2693-4C=)
c.2726C= (p.Ser909=)
c.2699C= (p.Ser900=)
7g.150947695G>TCA369853218KCNH2n.3709C>A
c.2876C>A (p.Ser959Tyr)
c.1856C>A (p.Ser619Tyr)
c.2576C>A (p.Ser859Tyr)
c.2693-4C>A (n.2693-4C>A)
c.2726C>A (p.Ser909Tyr)
c.2699C>A (p.Ser900Tyr)
 gnomAD v4
7g.150947696A=CA1752430070KCNH2n.3708T=
c.2875T= (p.Ser959=)
c.1855T= (p.Ser619=)
c.2575T= (p.Ser859=)
c.2693-5T= (n.2693-5T=)
c.2725T= (p.Ser909=)
c.2698T= (p.Ser900=)
7g.150947696A>CCA369853220KCNH2n.3708T>G
c.2875T>G (p.Ser959Ala)
c.1855T>G (p.Ser619Ala)
c.2575T>G (p.Ser859Ala)
c.2693-5T>G (n.2693-5T>G)
c.2725T>G (p.Ser909Ala)
c.2698T>G (p.Ser900Ala)
7g.150947696A>GCA369853221KCNH2n.3708T>C
c.2875T>C (p.Ser959Pro)
c.1855T>C (p.Ser619Pro)
c.2575T>C (p.Ser859Pro)
c.2693-5T>C (n.2693-5T>C)
c.2725T>C (p.Ser909Pro)
c.2698T>C (p.Ser900Pro)
7g.150947696A>TCA369853222KCNH2n.3708T>A
c.2875T>A (p.Ser959Thr)
c.1855T>A (p.Ser619Thr)
c.2575T>A (p.Ser859Thr)
c.2693-5T>A (n.2693-5T>A)
c.2725T>A (p.Ser909Thr)
c.2698T>A (p.Ser900Thr)
 ClinVar dbSNP
7g.150947697G>ACA458870948KCNH2n.3707C>T
c.2874C>T (p.Phe958=)
c.1854C>T (p.Phe618=)
c.2574C>T (p.Phe858=)
c.2693-6C>T (n.2693-6C>T)
c.2724C>T (p.Phe908=)
c.2697C>T (p.Phe899=)
7g.150947697G>CCA369853223KCNH2n.3707C>G
c.2874C>G (p.Phe958Leu)
c.1854C>G (p.Phe618Leu)
c.2574C>G (p.Phe858Leu)
c.2693-6C>G (n.2693-6C>G)
c.2724C>G (p.Phe908Leu)
c.2697C>G (p.Phe899Leu)
7g.150947697G=CA1752430076KCNH2n.3707C=
c.2874C= (p.Phe958=)
c.1854C= (p.Phe618=)
c.2574C= (p.Phe858=)
c.2693-6C= (n.2693-6C=)
c.2724C= (p.Phe908=)
c.2697C= (p.Phe899=)
7g.150947697G>TCA369853224KCNH2n.3707C>A
c.2874C>A (p.Phe958Leu)
c.1854C>A (p.Phe618Leu)
c.2574C>A (p.Phe858Leu)
c.2693-6C>A (n.2693-6C>A)
c.2724C>A (p.Phe908Leu)
c.2697C>A (p.Phe899Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.150947698A>CCA369853225KCNH2n.3706T>G
c.2873T>G (p.Phe958Cys)
c.1853T>G (p.Phe618Cys)
c.2573T>G (p.Phe858Cys)
c.2693-7T>G (n.2693-7T>G)
c.2723T>G (p.Phe908Cys)
c.2696T>G (p.Phe899Cys)
7g.150947698A>GCA369853226KCNH2n.3706T>C
c.2873T>C (p.Phe958Ser)
c.1853T>C (p.Phe618Ser)
c.2573T>C (p.Phe858Ser)
c.2693-7T>C (n.2693-7T>C)
c.2723T>C (p.Phe908Ser)
c.2696T>C (p.Phe899Ser)
7g.150947698A>TCA369853227KCNH2n.3706T>A
c.2873T>A (p.Phe958Tyr)
c.1853T>A (p.Phe618Tyr)
c.2573T>A (p.Phe858Tyr)
c.2693-7T>A (n.2693-7T>A)
c.2723T>A (p.Phe908Tyr)
c.2696T>A (p.Phe899Tyr)
7g.150947699A>CCA369853228KCNH2n.3705T>G
c.2872T>G (p.Phe958Val)
c.1852T>G (p.Phe618Val)
c.2572T>G (p.Phe858Val)
c.2693-8T>G (n.2693-8T>G)
c.2722T>G (p.Phe908Val)
c.2695T>G (p.Phe899Val)
7g.150947699A>GCA369853229KCNH2n.3705T>C
c.2872T>C (p.Phe958Leu)
c.1852T>C (p.Phe618Leu)
c.2572T>C (p.Phe858Leu)
c.2693-8T>C (n.2693-8T>C)
c.2722T>C (p.Phe908Leu)
c.2695T>C (p.Phe899Leu)
7g.150947699A>TCA369853230KCNH2n.3705T>A
c.2872T>A (p.Phe958Ile)
c.1852T>A (p.Phe618Ile)
c.2572T>A (p.Phe858Ile)
c.2693-8T>A (n.2693-8T>A)
c.2722T>A (p.Phe908Ile)
c.2695T>A (p.Phe899Ile)
 gnomAD v4
7g.150947700G>ACA458870955KCNH2n.3704C>T
c.2871C>T (p.Pro957=)
c.1851C>T (p.Pro617=)
c.2571C>T (p.Pro857=)
c.2693-9C>T (n.2693-9C>T)
c.2721C>T (p.Pro907=)
c.2694C>T (p.Pro898=)
 dbSNP gnomAD v2
7g.150947700G>CCA458870954KCNH2n.3704C>G
c.2871C>G (p.Pro957=)
c.1851C>G (p.Pro617=)
c.2571C>G (p.Pro857=)
c.2693-9C>G (n.2693-9C>G)
c.2721C>G (p.Pro907=)
c.2694C>G (p.Pro898=)
7g.150947700G=CA1752430077KCNH2n.3704C=
c.2871C= (p.Pro957=)
c.1851C= (p.Pro617=)
c.2571C= (p.Pro857=)
c.2693-9C= (n.2693-9C=)
c.2721C= (p.Pro907=)
c.2694C= (p.Pro898=)
7g.150947700G>TCA458870953KCNH2n.3704C>A
c.2871C>A (p.Pro957=)
c.1851C>A (p.Pro617=)
c.2571C>A (p.Pro857=)
c.2693-9C>A (n.2693-9C>A)
c.2721C>A (p.Pro907=)
c.2694C>A (p.Pro898=)
 gnomAD v4
7g.150947701G>ACA369853233KCNH2n.3703C>T
c.2870C>T (p.Pro957Leu)
c.1850C>T (p.Pro617Leu)
c.2570C>T (p.Pro857Leu)
c.2693-10C>T (n.2693-10C>T)
c.2720C>T (p.Pro907Leu)
c.2693C>T (p.Pro898Leu)
 ClinVar dbSNP gnomAD v4
7g.150947701G>CCA369853232KCNH2n.3703C>G
c.2870C>G (p.Pro957Arg)
c.1850C>G (p.Pro617Arg)
c.2570C>G (p.Pro857Arg)
c.2693-10C>G (n.2693-10C>G)
c.2720C>G (p.Pro907Arg)
c.2693C>G (p.Pro898Arg)
7g.150947701G=CA1752430078KCNH2n.3703C=
c.2870C= (p.Pro957=)
c.1850C= (p.Pro617=)
c.2570C= (p.Pro857=)
c.2693-10C= (n.2693-10C=)
c.2720C= (p.Pro907=)
c.2693C= (p.Pro898=)
7g.150947701G>TCA369853231KCNH2n.3703C>A
c.2870C>A (p.Pro957His)
c.1850C>A (p.Pro617His)
c.2570C>A (p.Pro857His)
c.2693-10C>A (n.2693-10C>A)
c.2720C>A (p.Pro907His)
c.2693C>A (p.Pro898His)
7g.150947702G>ACA369853234KCNH2n.3702C>T
c.2869C>T (p.Pro957Ser)
c.1849C>T (p.Pro617Ser)
c.2569C>T (p.Pro857Ser)
c.2693-11C>T (n.2693-11C>T)
c.2719C>T (p.Pro907Ser)
c.2692C>T (p.Pro898Ser)
 gnomAD v4
7g.150947702G>CCA369853236KCNH2n.3702C>G
c.2869C>G (p.Pro957Ala)
c.1849C>G (p.Pro617Ala)
c.2569C>G (p.Pro857Ala)
c.2693-11C>G (n.2693-11C>G)
c.2719C>G (p.Pro907Ala)
c.2692C>G (p.Pro898Ala)
7g.150947702G>TCA369853235KCNH2n.3702C>A
c.2869C>A (p.Pro957Thr)
c.1849C>A (p.Pro617Thr)
c.2569C>A (p.Pro857Thr)
c.2693-11C>A (n.2693-11C>A)
c.2719C>A (p.Pro907Thr)
c.2692C>A (p.Pro898Thr)
 gnomAD v4
7g.150947703C>ACA458870960KCNH2n.3701G>T
c.2868G>T (p.Val956=)
c.1848G>T (p.Val616=)
c.2568G>T (p.Val856=)
c.2693-12G>T (n.2693-12G>T)
c.2718G>T (p.Val906=)
c.2691G>T (p.Val897=)
 gnomAD v4
7g.150947703C=CA1752430083KCNH2n.3701G=
c.2868G= (p.Val956=)
c.1848G= (p.Val616=)
c.2568G= (p.Val856=)
c.2693-12G= (n.2693-12G=)
c.2718G= (p.Val906=)
c.2691G= (p.Val897=)
7g.150947703C>GCA458870961KCNH2n.3701G>C
c.2868G>C (p.Val956=)
c.1848G>C (p.Val616=)
c.2568G>C (p.Val856=)
c.2693-12G>C (n.2693-12G>C)
c.2718G>C (p.Val906=)
c.2691G>C (p.Val897=)
7g.150947703C>TCA035158KCNH2n.3701G>A
c.2868G>A (p.Val956=)
c.1848G>A (p.Val616=)
c.2568G>A (p.Val856=)
c.2693-12G>A (n.2693-12G>A)
c.2718G>A (p.Val906=)
c.2691G>A (p.Val897=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947704A>CCA369853237KCNH2n.3700T>G
c.2867T>G (p.Val956Gly)
c.1847T>G (p.Val616Gly)
c.2567T>G (p.Val856Gly)
c.2693-13T>G (n.2693-13T>G)
c.2717T>G (p.Val906Gly)
c.2690T>G (p.Val897Gly)
7g.150947704A>GCA369853238KCNH2n.3700T>C
c.2867T>C (p.Val956Ala)
c.1847T>C (p.Val616Ala)
c.2567T>C (p.Val856Ala)
c.2693-13T>C (n.2693-13T>C)
c.2717T>C (p.Val906Ala)
c.2690T>C (p.Val897Ala)
7g.150947704A>TCA369853239KCNH2n.3700T>A
c.2867T>A (p.Val956Glu)
c.1847T>A (p.Val616Glu)
c.2567T>A (p.Val856Glu)
c.2693-13T>A (n.2693-13T>A)
c.2717T>A (p.Val906Glu)
c.2690T>A (p.Val897Glu)
7g.150947705C>ACA369853240KCNH2n.3699G>T
c.2866G>T (p.Val956Leu)
c.1846G>T (p.Val616Leu)
c.2566G>T (p.Val856Leu)
c.2693-14G>T (n.2693-14G>T)
c.2716G>T (p.Val906Leu)
c.2689G>T (p.Val897Leu)

Number of alleles fetched