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.150947670_150947680delCA658761317KCNH2n.3728_3738del
c.2895_2905del (p.Glu966TrpfsTer?)
c.1875_1885del (p.Glu626TrpfsTer?)
c.2595_2605del (p.Glu866TrpfsTer?)
c.2708_2718del (p.Glu903GlyfsTer?)
c.2745_2755del (p.Glu916TrpfsTer?)
c.2718_2728del (p.Glu907TrpfsTer?)
7g.150947678_150947679delinsCGCA1752430008KCNH2n.3725_3726delinsCG
c.2892_2893delinsCG (p.Pro964=)
c.1872_1873delinsCG (p.Pro624=)
c.2592_2593delinsCG (p.Pro864=)
c.2705_2706delinsCG (p.Pro902=)
c.2742_2743delinsCG (p.Pro914=)
c.2715_2716delinsCG (p.Pro905=)
7g.150947679G>ACA035253KCNH2n.3725C>T
c.2892C>T (p.Pro964=)
c.1872C>T (p.Pro624=)
c.2592C>T (p.Pro864=)
c.2705C>T (p.Pro902Leu)
c.2742C>T (p.Pro914=)
c.2715C>T (p.Pro905=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150947679G>CCA035233KCNH2n.3725C>G
c.2892C>G (p.Pro964=)
c.1872C>G (p.Pro624=)
c.2592C>G (p.Pro864=)
c.2705C>G (p.Pro902Arg)
c.2742C>G (p.Pro914=)
c.2715C>G (p.Pro905=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947679G=CA1752430021KCNH2n.3725C=
c.2892C= (p.Pro964=)
c.1872C= (p.Pro624=)
c.2592C= (p.Pro864=)
c.2705C= (p.Pro902=)
c.2742C= (p.Pro914=)
c.2715C= (p.Pro905=)
7g.150947679G>TCA458870917KCNH2n.3725C>A
c.2892C>A (p.Pro964=)
c.1872C>A (p.Pro624=)
c.2592C>A (p.Pro864=)
c.2705C>A (p.Pro902Gln)
c.2742C>A (p.Pro914=)
c.2715C>A (p.Pro905=)
gnomAD v4
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.150947680G>ACA369853188KCNH2n.3724C>T
c.2891C>T (p.Pro964Leu)
c.1871C>T (p.Pro624Leu)
c.2591C>T (p.Pro864Leu)
c.2704C>T (p.Pro902Ser)
c.2741C>T (p.Pro914Leu)
c.2714C>T (p.Pro905Leu)
ClinVar dbSNP
7g.150947680G>CCA169072486KCNH2n.3724C>G
c.2891C>G (p.Pro964Arg)
c.1871C>G (p.Pro624Arg)
c.2591C>G (p.Pro864Arg)
c.2704C>G (p.Pro902Ala)
c.2741C>G (p.Pro914Arg)
c.2714C>G (p.Pro905Arg)
ClinVar dbSNP gnomAD v4
7g.150947680G=CA1752430028KCNH2n.3724C=
c.2891C= (p.Pro964=)
c.1871C= (p.Pro624=)
c.2591C= (p.Pro864=)
c.2704C= (p.Pro902=)
c.2741C= (p.Pro914=)
c.2714C= (p.Pro905=)
7g.150947680G>TCA369853189KCNH2n.3724C>A
c.2891C>A (p.Pro964His)
c.1871C>A (p.Pro624His)
c.2591C>A (p.Pro864His)
c.2704C>A (p.Pro902Thr)
c.2741C>A (p.Pro914His)
c.2714C>A (p.Pro905His)
7g.150947681G>ACA369853190KCNH2n.3723C>T
c.2890C>T (p.Pro964Ser)
c.1870C>T (p.Pro624Ser)
c.2590C>T (p.Pro864Ser)
c.2703C>T (p.Pro901=)
c.2740C>T (p.Pro914Ser)
c.2713C>T (p.Pro905Ser)
7g.150947681G>CCA10628480KCNH2n.3723C>G
c.2890C>G (p.Pro964Ala)
c.1870C>G (p.Pro624Ala)
c.2590C>G (p.Pro864Ala)
c.2703C>G (p.Pro901=)
c.2740C>G (p.Pro914Ala)
c.2713C>G (p.Pro905Ala)
ClinVar dbSNP
7g.150947681G=CA1752430032KCNH2n.3723C=
c.2890C= (p.Pro964=)
c.1870C= (p.Pro624=)
c.2590C= (p.Pro864=)
c.2703C= (p.Pro901=)
c.2740C= (p.Pro914=)
c.2713C= (p.Pro905=)
7g.150947681G>TCA369853191KCNH2n.3723C>A
c.2890C>A (p.Pro964Thr)
c.1870C>A (p.Pro624Thr)
c.2590C>A (p.Pro864Thr)
c.2703C>A (p.Pro901=)
c.2740C>A (p.Pro914Thr)
c.2713C>A (p.Pro905Thr)
7g.150947682G>ACA035208KCNH2n.3722C>T
c.2889C>T (p.Pro963=)
c.1869C>T (p.Pro623=)
c.2589C>T (p.Pro863=)
c.2702C>T (p.Pro901Leu)
c.2739C>T (p.Pro913=)
c.2712C>T (p.Pro904=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947682G>CCA458870923KCNH2n.3722C>G
c.2889C>G (p.Pro963=)
c.1869C>G (p.Pro623=)
c.2589C>G (p.Pro863=)
c.2702C>G (p.Pro901Arg)
c.2739C>G (p.Pro913=)
c.2712C>G (p.Pro904=)
ClinVar dbSNP
7g.150947682G=CA1752430038KCNH2n.3722C=
c.2889C= (p.Pro963=)
c.1869C= (p.Pro623=)
c.2589C= (p.Pro863=)
c.2702C= (p.Pro901=)
c.2739C= (p.Pro913=)
c.2712C= (p.Pro904=)
7g.150947682G>TCA458870924KCNH2n.3722C>A
c.2889C>A (p.Pro963=)
c.1869C>A (p.Pro623=)
c.2589C>A (p.Pro863=)
c.2702C>A (p.Pro901His)
c.2739C>A (p.Pro913=)
c.2712C>A (p.Pro904=)
ClinVar dbSNP
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.150947683G>ACA369853192KCNH2n.3721C>T
c.2888C>T (p.Pro963Leu)
c.1868C>T (p.Pro623Leu)
c.2588C>T (p.Pro863Leu)
c.2701C>T (p.Pro901Ser)
c.2738C>T (p.Pro913Leu)
c.2711C>T (p.Pro904Leu)
ClinVar
7g.150947683G>CCA369853193KCNH2n.3721C>G
c.2888C>G (p.Pro963Arg)
c.1868C>G (p.Pro623Arg)
c.2588C>G (p.Pro863Arg)
c.2701C>G (p.Pro901Ala)
c.2738C>G (p.Pro913Arg)
c.2711C>G (p.Pro904Arg)
gnomAD v4
7g.150947683G>TCA369853194KCNH2n.3721C>A
c.2888C>A (p.Pro963His)
c.1868C>A (p.Pro623His)
c.2588C>A (p.Pro863His)
c.2701C>A (p.Pro901Thr)
c.2738C>A (p.Pro913His)
c.2711C>A (p.Pro904His)
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?)
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

Number of alleles fetched