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.150947684dupCA305331KCNH2n.3725dup
c.2892dup (p.Gly965ArgfsTer?)
c.1872dup (p.Gly625ArgfsTer?)
c.2592dup (p.Gly865ArgfsTer?)
c.2705dup (p.Glu903GlyfsTer?)
c.2742dup (p.Gly915ArgfsTer?)
c.2715dup (p.Gly906ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947683_150947684dupCA2695208804KCNH2n.3724_3725dup
c.2891_2892dup (p.Gly965ProfsTer10)
c.1871_1872dup (p.Gly625ProfsTer10)
c.2591_2592dup (p.Gly865ProfsTer10)
c.2704_2705dup (p.Glu903ArgfsTer?)
c.2741_2742dup (p.Gly915ProfsTer10)
c.2714_2715dup (p.Gly906ProfsTer10)
7g.150947684delCA16618400KCNH2n.3725del
c.2892del (p.Gly965GlufsTer9)
c.1872del (p.Gly625GlufsTer9)
c.2592del (p.Gly865GlufsTer9)
c.2705del (p.Pro902ArgfsTer?)
c.2742del (p.Gly915GlufsTer9)
c.2715del (p.Gly906GlufsTer9)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.150947682_150947684delinsGGGCA1752430044KCNH2n.3720_3722delinsCCC
c.2887_2889delinsCCC (p.Pro963=)
c.1867_1869delinsCCC (p.Pro623=)
c.2587_2589delinsCCC (p.Pro863=)
c.2700_2702delinsCCC (p.Gly900=)
c.2737_2739delinsCCC (p.Pro913=)
c.2710_2712delinsCCC (p.Pro904=)
7g.150947683_150947684delinsTCA16618401KCNH2n.3720_3721delinsA
c.2887_2888delinsA (p.Pro963ThrfsTer11)
c.1867_1868delinsA (p.Pro623ThrfsTer11)
c.2587_2588delinsA (p.Pro863ThrfsTer11)
c.2700_2701delinsA (p.Pro902ArgfsTer?)
c.2737_2738delinsA (p.Pro913ThrfsTer11)
c.2710_2711delinsA (p.Pro904ThrfsTer11)
 ClinVar dbSNP
7g.150947684G>ACA369853195KCNH2n.3720C>T
c.2887C>T (p.Pro963Ser)
c.1867C>T (p.Pro623Ser)
c.2587C>T (p.Pro863Ser)
c.2700C>T (p.Gly900=)
c.2737C>T (p.Pro913Ser)
c.2710C>T (p.Pro904Ser)
 gnomAD v4
7g.150947684G>CCA369853196KCNH2n.3720C>G
c.2887C>G (p.Pro963Ala)
c.1867C>G (p.Pro623Ala)
c.2587C>G (p.Pro863Ala)
c.2700C>G (p.Gly900=)
c.2737C>G (p.Pro913Ala)
c.2710C>G (p.Pro904Ala)
 gnomAD v4
7g.150947684G=CA1752430055KCNH2n.3720C=
c.2887C= (p.Pro963=)
c.1867C= (p.Pro623=)
c.2587C= (p.Pro863=)
c.2700C= (p.Gly900=)
c.2737C= (p.Pro913=)
c.2710C= (p.Pro904=)
7g.150947684G>TCA007577KCNH2n.3720C>A
c.2887C>A (p.Pro963Thr)
c.1867C>A (p.Pro623Thr)
c.2587C>A (p.Pro863Thr)
c.2700C>A (p.Gly900=)
c.2737C>A (p.Pro913Thr)
c.2710C>A (p.Pro904Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947685_150947688dupCA2695199642KCNH2n.3717_3720dup
c.2884_2887dup (p.Pro963GlnfsTer?)
c.1864_1867dup (p.Pro623GlnfsTer?)
c.2584_2587dup (p.Pro863GlnfsTer?)
c.2697_2700dup (p.Pro901ArgfsTer?)
c.2734_2737dup (p.Pro913GlnfsTer?)
c.2707_2710dup (p.Pro904GlnfsTer?)
 ClinVar
7g.150947685C>ACA369853197KCNH2n.3719G>T
c.2886G>T (p.Arg962Ser)
c.1866G>T (p.Arg622Ser)
c.2586G>T (p.Arg862Ser)
c.2699G>T (p.Gly900Val)
c.2736G>T (p.Arg912Ser)
c.2709G>T (p.Arg903Ser)
7g.150947685C=CA1752430061KCNH2n.3719G=
c.2886G= (p.Arg962=)
c.1866G= (p.Arg622=)
c.2586G= (p.Arg862=)
c.2699G= (p.Gly900=)
c.2736G= (p.Arg912=)
c.2709G= (p.Arg903=)
7g.150947685C>GCA369853198KCNH2n.3719G>C
c.2886G>C (p.Arg962Ser)
c.1866G>C (p.Arg622Ser)
c.2586G>C (p.Arg862Ser)
c.2699G>C (p.Gly900Ala)
c.2736G>C (p.Arg912Ser)
c.2709G>C (p.Arg903Ser)
7g.150947685C>TCA035174KCNH2n.3719G>A
c.2886G>A (p.Arg962=)
c.1866G>A (p.Arg622=)
c.2586G>A (p.Arg862=)
c.2699G>A (p.Gly900Asp)
c.2736G>A (p.Arg912=)
c.2709G>A (p.Arg903=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947686delCA2695208805KCNH2n.3719del
c.2886del (p.Arg962SerfsTer12)
c.1866del (p.Arg622SerfsTer12)
c.2586del (p.Arg862SerfsTer12)
c.2699del (p.Gly900AlafsTer?)
c.2736del (p.Arg912SerfsTer12)
c.2709del (p.Arg903SerfsTer12)
7g.150947686C>ACA369853199KCNH2n.3718G>T
c.2885G>T (p.Arg962Met)
c.1865G>T (p.Arg622Met)
c.2585G>T (p.Arg862Met)
c.2698G>T (p.Gly900Cys)
c.2735G>T (p.Arg912Met)
c.2708G>T (p.Arg903Met)
 gnomAD v4
7g.150947686C>GCA369853200KCNH2n.3718G>C
c.2885G>C (p.Arg962Thr)
c.1865G>C (p.Arg622Thr)
c.2585G>C (p.Arg862Thr)
c.2698G>C (p.Gly900Arg)
c.2735G>C (p.Arg912Thr)
c.2708G>C (p.Arg903Thr)
7g.150947686C>TCA369853201KCNH2n.3718G>A
c.2885G>A (p.Arg962Lys)
c.1865G>A (p.Arg622Lys)
c.2585G>A (p.Arg862Lys)
c.2698G>A (p.Gly900Ser)
c.2735G>A (p.Arg912Lys)
c.2708G>A (p.Arg903Lys)
 gnomAD v4
7g.150947687T>ACA369853203KCNH2n.3717A>T
c.2884A>T (p.Arg962Trp)
c.1864A>T (p.Arg622Trp)
c.2584A>T (p.Arg862Trp)
c.2697A>T (p.Pro899=)
c.2734A>T (p.Arg912Trp)
c.2707A>T (p.Arg903Trp)
 gnomAD v4
7g.150947687T>CCA369853202KCNH2n.3717A>G
c.2884A>G (p.Arg962Gly)
c.1864A>G (p.Arg622Gly)
c.2584A>G (p.Arg862Gly)
c.2697A>G (p.Pro899=)
c.2734A>G (p.Arg912Gly)
c.2707A>G (p.Arg903Gly)
 gnomAD v4
7g.150947687T>GCA458870930KCNH2n.3717A>C
c.2884A>C (p.Arg962=)
c.1864A>C (p.Arg622=)
c.2584A>C (p.Arg862=)
c.2697A>C (p.Pro899=)
c.2734A>C (p.Arg912=)
c.2707A>C (p.Arg903=)
7g.150947688G>ACA458870932KCNH2n.3716C>T
c.2883C>T (p.Pro961=)
c.1863C>T (p.Pro621=)
c.2583C>T (p.Pro861=)
c.2696C>T (p.Pro899Leu)
c.2733C>T (p.Pro911=)
c.2706C>T (p.Pro902=)
 dbSNP
7g.150947688G>CCA458870933KCNH2n.3716C>G
c.2883C>G (p.Pro961=)
c.1863C>G (p.Pro621=)
c.2583C>G (p.Pro861=)
c.2696C>G (p.Pro899Arg)
c.2733C>G (p.Pro911=)
c.2706C>G (p.Pro902=)
7g.150947688G=CA1752430062KCNH2n.3716C=
c.2883C= (p.Pro961=)
c.1863C= (p.Pro621=)
c.2583C= (p.Pro861=)
c.2696C= (p.Pro899=)
c.2733C= (p.Pro911=)
c.2706C= (p.Pro902=)
7g.150947688G>TCA458870934KCNH2n.3716C>A
c.2883C>A (p.Pro961=)
c.1863C>A (p.Pro621=)
c.2583C>A (p.Pro861=)
c.2696C>A (p.Pro899Gln)
c.2733C>A (p.Pro911=)
c.2706C>A (p.Pro902=)
7g.150947691delCA2685602123KCNH2n.3716del
c.2883del (p.Arg962GlyfsTer12)
c.1863del (p.Arg622GlyfsTer12)
c.2583del (p.Arg862GlyfsTer12)
c.2696del (p.Pro899GlnfsTer?)
c.2733del (p.Arg912GlyfsTer12)
c.2706del (p.Arg903GlyfsTer12)
 gnomAD v4
7g.150947689G>ACA369853204KCNH2n.3715C>T
c.2882C>T (p.Pro961Leu)
c.1862C>T (p.Pro621Leu)
c.2582C>T (p.Pro861Leu)
c.2695C>T (p.Pro899Ser)
c.2732C>T (p.Pro911Leu)
c.2705C>T (p.Pro902Leu)
 ClinVar
7g.150947689G>CCA369853205KCNH2n.3715C>G
c.2882C>G (p.Pro961Arg)
c.1862C>G (p.Pro621Arg)
c.2582C>G (p.Pro861Arg)
c.2695C>G (p.Pro899Ala)
c.2732C>G (p.Pro911Arg)
c.2705C>G (p.Pro902Arg)
7g.150947689G>TCA369853206KCNH2n.3715C>A
c.2882C>A (p.Pro961His)
c.1862C>A (p.Pro621His)
c.2582C>A (p.Pro861His)
c.2695C>A (p.Pro899Thr)
c.2732C>A (p.Pro911His)
c.2705C>A (p.Pro902His)
 gnomAD v4
7g.150947690G>ACA369853207KCNH2n.3714C>T
c.2881C>T (p.Pro961Ser)
c.1861C>T (p.Pro621Ser)
c.2581C>T (p.Pro861Ser)
c.2694C>T (p.Ala898=)
c.2731C>T (p.Pro911Ser)
c.2704C>T (p.Pro902Ser)
 gnomAD v4
7g.150947690G>CCA369853208KCNH2n.3714C>G
c.2881C>G (p.Pro961Ala)
c.1861C>G (p.Pro621Ala)
c.2581C>G (p.Pro861Ala)
c.2694C>G (p.Ala898=)
c.2731C>G (p.Pro911Ala)
c.2704C>G (p.Pro902Ala)
7g.150947690G>TCA369853209KCNH2n.3714C>A
c.2881C>A (p.Pro961Thr)
c.1861C>A (p.Pro621Thr)
c.2581C>A (p.Pro861Thr)
c.2694C>A (p.Ala898=)
c.2731C>A (p.Pro911Thr)
c.2704C>A (p.Pro902Thr)
 gnomAD v4
7g.150947691G>ACA458870939KCNH2n.3713C>T
c.2880C>T (p.Ser960=)
c.1860C>T (p.Ser620=)
c.2580C>T (p.Ser860=)
c.2693C>T (p.Ala898Val)
c.2730C>T (p.Ser910=)
c.2703C>T (p.Ser901=)
 ClinVar dbSNP gnomAD v4
7g.150947691G>CCA369853211KCNH2n.3713C>G
c.2880C>G (p.Ser960Arg)
c.1860C>G (p.Ser620Arg)
c.2580C>G (p.Ser860Arg)
c.2693C>G (p.Ala898Gly)
c.2730C>G (p.Ser910Arg)
c.2703C>G (p.Ser901Arg)
7g.150947691G>TCA369853210KCNH2n.3713C>A
c.2880C>A (p.Ser960Arg)
c.1860C>A (p.Ser620Arg)
c.2580C>A (p.Ser860Arg)
c.2693C>A (p.Ala898Asp)
c.2730C>A (p.Ser910Arg)
c.2703C>A (p.Ser901Arg)
 gnomAD v4
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

Number of alleles fetched