Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947163_150948277del | CA1139660328 | KCNH2 | n.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 |
7 | g.150947340C>A | CA008041 | KCNH2 | n.3973G>T c.3140G>T (p.Arg1047Leu) c.2120G>T (p.Arg707Leu) c.2840G>T (p.Arg947Leu) c.2990G>T (p.Arg997Leu) c.2963G>T (p.Arg988Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947340C= | CA1752428387 | KCNH2 | n.3973G= c.3140G= (p.Arg1047=) c.2120G= (p.Arg707=) c.2840G= (p.Arg947=) c.2990G= (p.Arg997=) c.2963G= (p.Arg988=) | |
7 | g.150947340C>G | CA369852510 | KCNH2 | n.3973G>C c.3140G>C (p.Arg1047Pro) c.2120G>C (p.Arg707Pro) c.2840G>C (p.Arg947Pro) c.2990G>C (p.Arg997Pro) c.2963G>C (p.Arg988Pro) | |
7 | g.150947340C>T | CA369852511 | KCNH2 | n.3973G>A c.3140G>A (p.Arg1047His) c.2120G>A (p.Arg707His) c.2840G>A (p.Arg947His) c.2990G>A (p.Arg997His) c.2963G>A (p.Arg988His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947341G>A | CA008033 | KCNH2 | n.3972C>T c.3139C>T (p.Arg1047Cys) c.2119C>T (p.Arg707Cys) c.2839C>T (p.Arg947Cys) c.2989C>T (p.Arg997Cys) c.2962C>T (p.Arg988Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947341G>C | CA369852513 | KCNH2 | n.3972C>G c.3139C>G (p.Arg1047Gly) c.2119C>G (p.Arg707Gly) c.2839C>G (p.Arg947Gly) c.2989C>G (p.Arg997Gly) c.2962C>G (p.Arg988Gly) | |
7 | g.150947341G= | CA1752428404 | KCNH2 | n.3972C= c.3139C= (p.Arg1047=) c.2119C= (p.Arg707=) c.2839C= (p.Arg947=) c.2989C= (p.Arg997=) c.2962C= (p.Arg988=) | |
7 | g.150947341G>T | CA369852514 | KCNH2 | n.3972C>A c.3139C>A (p.Arg1047Ser) c.2119C>A (p.Arg707Ser) c.2839C>A (p.Arg947Ser) c.2989C>A (p.Arg997Ser) c.2962C>A (p.Arg988Ser) | gnomAD v4 |
7 | g.150947342C>A | CA369852516 | KCNH2 | n.3971G>T c.3138G>T (p.Gln1046His) c.2118G>T (p.Gln706His) c.2838G>T (p.Gln946His) c.2988G>T (p.Gln996His) c.2961G>T (p.Gln987His) | ClinVar dbSNP gnomAD v4 |
7 | g.150947342C= | CA1752428407 | KCNH2 | n.3971G= c.3138G= (p.Gln1046=) c.2118G= (p.Gln706=) c.2838G= (p.Gln946=) c.2988G= (p.Gln996=) c.2961G= (p.Gln987=) | |
7 | g.150947342C>G | CA369852517 | KCNH2 | n.3971G>C c.3138G>C (p.Gln1046His) c.2118G>C (p.Gln706His) c.2838G>C (p.Gln946His) c.2988G>C (p.Gln996His) c.2961G>C (p.Gln987His) | |
7 | g.150947342C>T | CA458644797 | KCNH2 | n.3971G>A c.3138G>A (p.Gln1046=) c.2118G>A (p.Gln706=) c.2838G>A (p.Gln946=) c.2988G>A (p.Gln996=) c.2961G>A (p.Gln987=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947343T>A | CA369852519 | KCNH2 | n.3970A>T c.3137A>T (p.Gln1046Leu) c.2117A>T (p.Gln706Leu) c.2837A>T (p.Gln946Leu) c.2987A>T (p.Gln996Leu) c.2960A>T (p.Gln987Leu) | gnomAD v4 |
7 | g.150947343T>C | CA369852521 | KCNH2 | n.3970A>G c.3137A>G (p.Gln1046Arg) c.2117A>G (p.Gln706Arg) c.2837A>G (p.Gln946Arg) c.2987A>G (p.Gln996Arg) c.2960A>G (p.Gln987Arg) | ClinVar dbSNP |
7 | g.150947343T>G | CA369852522 | KCNH2 | n.3970A>C c.3137A>C (p.Gln1046Pro) c.2117A>C (p.Gln706Pro) c.2837A>C (p.Gln946Pro) c.2987A>C (p.Gln996Pro) c.2960A>C (p.Gln987Pro) | |
7 | g.150947343T= | CA1752428420 | KCNH2 | n.3970A= c.3137A= (p.Gln1046=) c.2117A= (p.Gln706=) c.2837A= (p.Gln946=) c.2987A= (p.Gln996=) c.2960A= (p.Gln987=) | |
7 | g.150947343_150947344delinsTG | CA1752428417 | KCNH2 | n.3969_3970delinsCA c.3136_3137delinsCA (p.Gln1046=) c.2116_2117delinsCA (p.Gln706=) c.2836_2837delinsCA (p.Gln946=) c.2986_2987delinsCA (p.Gln996=) c.2959_2960delinsCA (p.Gln987=) | |
7 | g.150947343_150947347delinsTGGAG | CA1752428418 | KCNH2 | n.3966_3970delinsCTCCA c.3133_3137delinsCTCCA (p.Leu1045=) c.2113_2117delinsCTCCA (p.Leu705=) c.2833_2837delinsCTCCA (p.Leu945=) c.2983_2987delinsCTCCA (p.Leu995=) c.2956_2960delinsCTCCA (p.Leu986=) | |
7 | g.150947344G>A | CA369852526 | KCNH2 | n.3969C>T c.3136C>T (p.Gln1046Ter) c.2116C>T (p.Gln706Ter) c.2836C>T (p.Gln946Ter) c.2986C>T (p.Gln996Ter) c.2959C>T (p.Gln987Ter) | ClinVar gnomAD v4 |
7 | g.150947344G>C | CA369852523 | KCNH2 | n.3969C>G c.3136C>G (p.Gln1046Glu) c.2116C>G (p.Gln706Glu) c.2836C>G (p.Gln946Glu) c.2986C>G (p.Gln996Glu) c.2959C>G (p.Gln987Glu) | gnomAD v4 |
7 | g.150947344G>T | CA369852524 | KCNH2 | n.3969C>A c.3136C>A (p.Gln1046Lys) c.2116C>A (p.Gln706Lys) c.2836C>A (p.Gln946Lys) c.2986C>A (p.Gln996Lys) c.2959C>A (p.Gln987Lys) | gnomAD v4 |
7 | g.150947345del | CA008026 | KCNH2 | n.3969del c.3136del (p.Gln1046SerfsTer11) c.2116del (p.Gln706SerfsTer11) c.2836del (p.Gln946SerfsTer11) c.2986del (p.Gln996SerfsTer11) c.2959del (p.Gln987SerfsTer11) | ClinVar dbSNP |
7 | g.150947346_150947349del | CA915945566 | KCNH2 | n.3966_3969del c.3133_3136del (p.Leu1045SerfsTer11) c.2113_2116del (p.Leu705SerfsTer11) c.2833_2836del (p.Leu945SerfsTer11) c.2983_2986del (p.Leu995SerfsTer11) c.2956_2959del (p.Leu986SerfsTer11) | ClinVar dbSNP |
7 | g.150947345G>A | CA458644801 | KCNH2 | n.3968C>T c.3135C>T (p.Leu1045=) c.2115C>T (p.Leu705=) c.2835C>T (p.Leu945=) c.2985C>T (p.Leu995=) c.2958C>T (p.Leu986=) | |
7 | g.150947345G>C | CA458644802 | KCNH2 | n.3968C>G c.3135C>G (p.Leu1045=) c.2115C>G (p.Leu705=) c.2835C>G (p.Leu945=) c.2985C>G (p.Leu995=) c.2958C>G (p.Leu986=) | gnomAD v4 |
7 | g.150947345G>T | CA458644803 | KCNH2 | n.3968C>A c.3135C>A (p.Leu1045=) c.2115C>A (p.Leu705=) c.2835C>A (p.Leu945=) c.2985C>A (p.Leu995=) c.2958C>A (p.Leu986=) | gnomAD v4 |
7 | g.150947346A= | CA1752428433 | KCNH2 | n.3967T= c.3134T= (p.Leu1045=) c.2114T= (p.Leu705=) c.2834T= (p.Leu945=) c.2984T= (p.Leu995=) c.2957T= (p.Leu986=) | |
7 | g.150947346A>C | CA369852529 | KCNH2 | n.3967T>G c.3134T>G (p.Leu1045Arg) c.2114T>G (p.Leu705Arg) c.2834T>G (p.Leu945Arg) c.2984T>G (p.Leu995Arg) c.2957T>G (p.Leu986Arg) | ClinVar dbSNP |
7 | g.150947346A>G | CA369852528 | KCNH2 | n.3967T>C c.3134T>C (p.Leu1045Pro) c.2114T>C (p.Leu705Pro) c.2834T>C (p.Leu945Pro) c.2984T>C (p.Leu995Pro) c.2957T>C (p.Leu986Pro) | gnomAD v4 |
7 | g.150947346A>T | CA369852531 | KCNH2 | n.3967T>A c.3134T>A (p.Leu1045His) c.2114T>A (p.Leu705His) c.2834T>A (p.Leu945His) c.2984T>A (p.Leu995His) c.2957T>A (p.Leu986His) | gnomAD v4 |
7 | g.150947347G>A | CA008015 | KCNH2 | n.3966C>T c.3133C>T (p.Leu1045Phe) c.2113C>T (p.Leu705Phe) c.2833C>T (p.Leu945Phe) c.2983C>T (p.Leu995Phe) c.2956C>T (p.Leu986Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947347G>C | CA369852535 | KCNH2 | n.3966C>G c.3133C>G (p.Leu1045Val) c.2113C>G (p.Leu705Val) c.2833C>G (p.Leu945Val) c.2983C>G (p.Leu995Val) c.2956C>G (p.Leu986Val) | |
7 | g.150947347G= | CA1752428439 | KCNH2 | n.3966C= c.3133C= (p.Leu1045=) c.2113C= (p.Leu705=) c.2833C= (p.Leu945=) c.2983C= (p.Leu995=) c.2956C= (p.Leu986=) | |
7 | g.150947347G>T | CA369852534 | KCNH2 | n.3966C>A c.3133C>A (p.Leu1045Ile) c.2113C>A (p.Leu705Ile) c.2833C>A (p.Leu945Ile) c.2983C>A (p.Leu995Ile) c.2956C>A (p.Leu986Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.150947349del | CA2685601787 | KCNH2 | n.3966del c.3133del (p.Leu1045SerfsTer12) c.2113del (p.Leu705SerfsTer12) c.2833del (p.Leu945SerfsTer12) c.2983del (p.Leu995SerfsTer12) c.2956del (p.Leu986SerfsTer12) | gnomAD v4 |
7 | g.150947348G>A | CA169071780 | KCNH2 | n.3965C>T c.3132C>T (p.Ala1044=) c.2112C>T (p.Ala704=) c.2832C>T (p.Ala944=) c.2982C>T (p.Ala994=) c.2955C>T (p.Ala985=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947348G>C | CA458644805 | KCNH2 | n.3965C>G c.3132C>G (p.Ala1044=) c.2112C>G (p.Ala704=) c.2832C>G (p.Ala944=) c.2982C>G (p.Ala994=) c.2955C>G (p.Ala985=) | |
7 | g.150947348G= | CA1752428445 | KCNH2 | n.3965C= c.3132C= (p.Ala1044=) c.2112C= (p.Ala704=) c.2832C= (p.Ala944=) c.2982C= (p.Ala994=) c.2955C= (p.Ala985=) | |
7 | g.150947348G>T | CA458644806 | KCNH2 | n.3965C>A c.3132C>A (p.Ala1044=) c.2112C>A (p.Ala704=) c.2832C>A (p.Ala944=) c.2982C>A (p.Ala994=) c.2955C>A (p.Ala985=) | gnomAD v4 |
7 | g.150947349G>A | CA369852538 | KCNH2 | n.3964C>T c.3131C>T (p.Ala1044Val) c.2111C>T (p.Ala704Val) c.2831C>T (p.Ala944Val) c.2981C>T (p.Ala994Val) c.2954C>T (p.Ala985Val) | ClinVar gnomAD v4 COSMIC COSMIC |
7 | g.150947349G>C | CA369852540 | KCNH2 | n.3964C>G c.3131C>G (p.Ala1044Gly) c.2111C>G (p.Ala704Gly) c.2831C>G (p.Ala944Gly) c.2981C>G (p.Ala994Gly) c.2954C>G (p.Ala985Gly) | |
7 | g.150947349G>T | CA369852541 | KCNH2 | n.3964C>A c.3131C>A (p.Ala1044Asp) c.2111C>A (p.Ala704Asp) c.2831C>A (p.Ala944Asp) c.2981C>A (p.Ala994Asp) c.2954C>A (p.Ala985Asp) | gnomAD v4 |
7 | g.150947350C>A | CA369852543 | KCNH2 | n.3963G>T c.3130G>T (p.Ala1044Ser) c.2110G>T (p.Ala704Ser) c.2830G>T (p.Ala944Ser) c.2980G>T (p.Ala994Ser) c.2953G>T (p.Ala985Ser) | |
7 | g.150947350C>G | CA369852544 | KCNH2 | n.3963G>C c.3130G>C (p.Ala1044Pro) c.2110G>C (p.Ala704Pro) c.2830G>C (p.Ala944Pro) c.2980G>C (p.Ala994Pro) c.2953G>C (p.Ala985Pro) | |
7 | g.150947350C>T | CA369852546 | KCNH2 | n.3963G>A c.3130G>A (p.Ala1044Thr) c.2110G>A (p.Ala704Thr) c.2830G>A (p.Ala944Thr) c.2980G>A (p.Ala994Thr) c.2953G>A (p.Ala985Thr) | gnomAD v4 |
7 | g.150947350_150947368delinsCATCCAGCCTGCTCTCCAC | CA1752428447 | KCNH2 | n.3945_3963delinsGTGGAGAGCAGGCTGGATG c.3112_3130delinsGTGGAGAGCAGGCTGGATG (p.Val1038=) c.2092_2110delinsGTGGAGAGCAGGCTGGATG (p.Val698=) c.2812_2830delinsGTGGAGAGCAGGCTGGATG (p.Val938=) c.2962_2980delinsGTGGAGAGCAGGCTGGATG (p.Val988=) c.2935_2953delinsGTGGAGAGCAGGCTGGATG (p.Val979=) | |
7 | g.150947351A>C | CA369852548 | KCNH2 | n.3962T>G c.3129T>G (p.Asp1043Glu) c.2109T>G (p.Asp703Glu) c.2829T>G (p.Asp943Glu) c.2979T>G (p.Asp993Glu) c.2952T>G (p.Asp984Glu) | |
7 | g.150947351A>G | CA458644807 | KCNH2 | n.3962T>C c.3129T>C (p.Asp1043=) c.2109T>C (p.Asp703=) c.2829T>C (p.Asp943=) c.2979T>C (p.Asp993=) c.2952T>C (p.Asp984=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947351A>T | CA369852550 | KCNH2 | n.3962T>A c.3129T>A (p.Asp1043Glu) c.2109T>A (p.Asp703Glu) c.2829T>A (p.Asp943Glu) c.2979T>A (p.Asp993Glu) c.2952T>A (p.Asp984Glu) |