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.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
7 | g.150947713_150947714del | CA2685602125 | KCNH2 | n.3691_3692del c.2858_2859del (p.Leu953ProfsTer?) c.1838_1839del (p.Leu613ProfsTer?) c.2558_2559del (p.Leu853ProfsTer?) c.2693-22_2693-21del (n.2693-22_2693-21del) c.2708_2709del (p.Leu903ProfsTer?) c.2681_2682del (p.Leu894ProfsTer?) | gnomAD v4 |
7 | g.150947713_150947714delinsAG | CA1752430097 | KCNH2 | n.3690_3691delinsCT c.2857_2858delinsCT (p.Leu953=) c.1837_1838delinsCT (p.Leu613=) c.2557_2558delinsCT (p.Leu853=) c.2693-23_2693-22delinsCT (n.2693-23_2693-22delinsCT) c.2707_2708delinsCT (p.Leu903=) c.2680_2681delinsCT (p.Leu894=) | |
7 | g.150947714G>A | CA369853254 | KCNH2 | n.3690C>T c.2857C>T (p.Leu953Phe) c.1837C>T (p.Leu613Phe) c.2557C>T (p.Leu853Phe) c.2693-23C>T (n.2693-23C>T) c.2707C>T (p.Leu903Phe) c.2680C>T (p.Leu894Phe) | ClinVar dbSNP |
7 | g.150947714G>C | CA369853255 | KCNH2 | n.3690C>G c.2857C>G (p.Leu953Val) c.1837C>G (p.Leu613Val) c.2557C>G (p.Leu853Val) c.2693-23C>G (n.2693-23C>G) c.2707C>G (p.Leu903Val) c.2680C>G (p.Leu894Val) | |
7 | g.150947714G= | CA1752430099 | KCNH2 | n.3690C= c.2857C= (p.Leu953=) c.1837C= (p.Leu613=) c.2557C= (p.Leu853=) c.2693-23C= (n.2693-23C=) c.2707C= (p.Leu903=) c.2680C= (p.Leu894=) | |
7 | g.150947714G>T | CA369853256 | KCNH2 | n.3690C>A c.2857C>A (p.Leu953Ile) c.1837C>A (p.Leu613Ile) c.2557C>A (p.Leu853Ile) c.2693-23C>A (n.2693-23C>A) c.2707C>A (p.Leu903Ile) c.2680C>A (p.Leu894Ile) | gnomAD v4 |
7 | g.150947718dup | CA2580077743 | KCNH2 | n.3690dup c.2857dup (p.Leu953ProfsTer?) c.1837dup (p.Leu613ProfsTer?) c.2557dup (p.Leu853ProfsTer?) c.2693-23dup (n.2693-23dup) c.2707dup (p.Leu903ProfsTer?) c.2680dup (p.Leu894ProfsTer?) | ClinVar |
7 | g.150947718del | CA007519 | KCNH2 | n.3690del c.2857del (p.Leu953SerfsTer21) c.1837del (p.Leu613SerfsTer21) c.2557del (p.Leu853SerfsTer21) c.2693-23del (n.2693-23del) c.2707del (p.Leu903SerfsTer21) c.2680del (p.Leu894SerfsTer21) | ClinVar dbSNP |
7 | g.150947715G>A | CA458870988 | KCNH2 | n.3689C>T c.2856C>T (p.Pro952=) c.1836C>T (p.Pro612=) c.2556C>T (p.Pro852=) c.2693-24C>T (n.2693-24C>T) c.2706C>T (p.Pro902=) c.2679C>T (p.Pro893=) | |
7 | g.150947715G>C | CA458870989 | KCNH2 | n.3689C>G c.2856C>G (p.Pro952=) c.1836C>G (p.Pro612=) c.2556C>G (p.Pro852=) c.2693-24C>G (n.2693-24C>G) c.2706C>G (p.Pro902=) c.2679C>G (p.Pro893=) | |
7 | g.150947715G>T | CA458870990 | KCNH2 | n.3689C>A c.2856C>A (p.Pro952=) c.1836C>A (p.Pro612=) c.2556C>A (p.Pro852=) c.2693-24C>A (n.2693-24C>A) c.2706C>A (p.Pro902=) c.2679C>A (p.Pro893=) | gnomAD v4 |
7 | g.150947716G>A | CA369853258 | KCNH2 | n.3688C>T c.2855C>T (p.Pro952Leu) c.1835C>T (p.Pro612Leu) c.2555C>T (p.Pro852Leu) c.2693-25C>T (n.2693-25C>T) c.2705C>T (p.Pro902Leu) c.2678C>T (p.Pro893Leu) | ClinVar dbSNP |
7 | g.150947716G>C | CA035089 | KCNH2 | n.3688C>G c.2855C>G (p.Pro952Arg) c.1835C>G (p.Pro612Arg) c.2555C>G (p.Pro852Arg) c.2693-25C>G (n.2693-25C>G) c.2705C>G (p.Pro902Arg) c.2678C>G (p.Pro893Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947716G= | CA1752430106 | KCNH2 | n.3688C= c.2855C= (p.Pro952=) c.1835C= (p.Pro612=) c.2555C= (p.Pro852=) c.2693-25C= (n.2693-25C=) c.2705C= (p.Pro902=) c.2678C= (p.Pro893=) | |
7 | g.150947716G>T | CA369853257 | KCNH2 | n.3688C>A c.2855C>A (p.Pro952His) c.1835C>A (p.Pro612His) c.2555C>A (p.Pro852His) c.2693-25C>A (n.2693-25C>A) c.2705C>A (p.Pro902His) c.2678C>A (p.Pro893His) | gnomAD v4 |
7 | g.150947717G>A | CA035078 | KCNH2 | n.3687C>T c.2854C>T (p.Pro952Ser) c.1834C>T (p.Pro612Ser) c.2554C>T (p.Pro852Ser) c.2693-26C>T (n.2693-26C>T) c.2704C>T (p.Pro902Ser) c.2677C>T (p.Pro893Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947717G>C | CA369853259 | KCNH2 | n.3687C>G c.2854C>G (p.Pro952Ala) c.1834C>G (p.Pro612Ala) c.2554C>G (p.Pro852Ala) c.2693-26C>G (n.2693-26C>G) c.2704C>G (p.Pro902Ala) c.2677C>G (p.Pro893Ala) | |
7 | g.150947717G= | CA1752430110 | KCNH2 | n.3687C= c.2854C= (p.Pro952=) c.1834C= (p.Pro612=) c.2554C= (p.Pro852=) c.2693-26C= (n.2693-26C=) c.2704C= (p.Pro902=) c.2677C= (p.Pro893=) | |
7 | g.150947717G>T | CA369853260 | KCNH2 | n.3687C>A c.2854C>A (p.Pro952Thr) c.1834C>A (p.Pro612Thr) c.2554C>A (p.Pro852Thr) c.2693-26C>A (n.2693-26C>A) c.2704C>A (p.Pro902Thr) c.2677C>A (p.Pro893Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947718G>A | CA458870999 | KCNH2 | n.3686C>T c.2853C>T (p.Ser951=) c.1833C>T (p.Ser611=) c.2553C>T (p.Ser851=) c.2693-27C>T (n.2693-27C>T) c.2703C>T (p.Ser901=) c.2676C>T (p.Ser892=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947718G>C | CA369853261 | KCNH2 | n.3686C>G c.2853C>G (p.Ser951Arg) c.1833C>G (p.Ser611Arg) c.2553C>G (p.Ser851Arg) c.2693-27C>G (n.2693-27C>G) c.2703C>G (p.Ser901Arg) c.2676C>G (p.Ser892Arg) | |
7 | g.150947718G= | CA1752430113 | KCNH2 | n.3686C= c.2853C= (p.Ser951=) c.1833C= (p.Ser611=) c.2553C= (p.Ser851=) c.2693-27C= (n.2693-27C=) c.2703C= (p.Ser901=) c.2676C= (p.Ser892=) | |
7 | g.150947718G>T | CA369853262 | KCNH2 | n.3686C>A c.2853C>A (p.Ser951Arg) c.1833C>A (p.Ser611Arg) c.2553C>A (p.Ser851Arg) c.2693-27C>A (n.2693-27C>A) c.2703C>A (p.Ser901Arg) c.2676C>A (p.Ser892Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150947719C>A | CA369853265 | KCNH2 | n.3685G>T c.2852G>T (p.Ser951Ile) c.1832G>T (p.Ser611Ile) c.2552G>T (p.Ser851Ile) c.2693-28G>T (n.2693-28G>T) c.2702G>T (p.Ser901Ile) c.2675G>T (p.Ser892Ile) | |
7 | g.150947719C>G | CA369853264 | KCNH2 | n.3685G>C c.2852G>C (p.Ser951Thr) c.1832G>C (p.Ser611Thr) c.2552G>C (p.Ser851Thr) c.2693-28G>C (n.2693-28G>C) c.2702G>C (p.Ser901Thr) c.2675G>C (p.Ser892Thr) | gnomAD v4 |
7 | g.150947719C>T | CA369853263 | KCNH2 | n.3685G>A c.2852G>A (p.Ser951Asn) c.1832G>A (p.Ser611Asn) c.2552G>A (p.Ser851Asn) c.2693-28G>A (n.2693-28G>A) c.2702G>A (p.Ser901Asn) c.2675G>A (p.Ser892Asn) | gnomAD v4 |
7 | g.150947723_150947735del | CA2580077744 | KCNH2 | n.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 |
7 | g.150947720T>A | CA369853266 | KCNH2 | n.3684A>T c.2851A>T (p.Ser951Cys) c.1831A>T (p.Ser611Cys) c.2551A>T (p.Ser851Cys) c.2693-29A>T (n.2693-29A>T) c.2701A>T (p.Ser901Cys) c.2674A>T (p.Ser892Cys) | |
7 | g.150947720T>C | CA369853267 | KCNH2 | n.3684A>G c.2851A>G (p.Ser951Gly) c.1831A>G (p.Ser611Gly) c.2551A>G (p.Ser851Gly) c.2693-29A>G (n.2693-29A>G) c.2701A>G (p.Ser901Gly) c.2674A>G (p.Ser892Gly) | gnomAD v4 |
7 | g.150947720T>G | CA369853268 | KCNH2 | n.3684A>C c.2851A>C (p.Ser951Arg) c.1831A>C (p.Ser611Arg) c.2551A>C (p.Ser851Arg) c.2693-29A>C (n.2693-29A>C) c.2701A>C (p.Ser901Arg) c.2674A>C (p.Ser892Arg) | |
7 | g.150947721G>A | CA458871010 | KCNH2 | n.3683C>T c.2850C>T (p.Ser950=) c.1830C>T (p.Ser610=) c.2550C>T (p.Ser850=) c.2693-30C>T (n.2693-30C>T) c.2700C>T (p.Ser900=) c.2673C>T (p.Ser891=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947721G>C | CA458871009 | KCNH2 | n.3683C>G c.2850C>G (p.Ser950=) c.1830C>G (p.Ser610=) c.2550C>G (p.Ser850=) c.2693-30C>G (n.2693-30C>G) c.2700C>G (p.Ser900=) c.2673C>G (p.Ser891=) | |
7 | g.150947721G>T | CA458871007 | KCNH2 | n.3683C>A c.2850C>A (p.Ser950=) c.1830C>A (p.Ser610=) c.2550C>A (p.Ser850=) c.2693-30C>A (n.2693-30C>A) c.2700C>A (p.Ser900=) c.2673C>A (p.Ser891=) | |
7 | g.150947722G>A | CA369853269 | KCNH2 | n.3682C>T c.2849C>T (p.Ser950Phe) c.1829C>T (p.Ser610Phe) c.2549C>T (p.Ser850Phe) c.2693-31C>T (n.2693-31C>T) c.2699C>T (p.Ser900Phe) c.2672C>T (p.Ser891Phe) | |
7 | g.150947722G>C | CA369853270 | KCNH2 | n.3682C>G c.2849C>G (p.Ser950Cys) c.1829C>G (p.Ser610Cys) c.2549C>G (p.Ser850Cys) c.2693-31C>G (n.2693-31C>G) c.2699C>G (p.Ser900Cys) c.2672C>G (p.Ser891Cys) | |
7 | g.150947722G>T | CA369853271 | KCNH2 | n.3682C>A c.2849C>A (p.Ser950Tyr) c.1829C>A (p.Ser610Tyr) c.2549C>A (p.Ser850Tyr) c.2693-31C>A (n.2693-31C>A) c.2699C>A (p.Ser900Tyr) c.2672C>A (p.Ser891Tyr) | |
7 | g.150947723A>C | CA369853272 | KCNH2 | n.3681T>G c.2848T>G (p.Ser950Ala) c.1828T>G (p.Ser610Ala) c.2548T>G (p.Ser850Ala) c.2693-32T>G (n.2693-32T>G) c.2698T>G (p.Ser900Ala) c.2671T>G (p.Ser891Ala) | |
7 | g.150947723A>G | CA369853274 | KCNH2 | n.3681T>C c.2848T>C (p.Ser950Pro) c.1828T>C (p.Ser610Pro) c.2548T>C (p.Ser850Pro) c.2693-32T>C (n.2693-32T>C) c.2698T>C (p.Ser900Pro) c.2671T>C (p.Ser891Pro) | gnomAD v4 |
7 | g.150947723A>T | CA369853273 | KCNH2 | n.3681T>A c.2848T>A (p.Ser950Thr) c.1828T>A (p.Ser610Thr) c.2548T>A (p.Ser850Thr) c.2693-32T>A (n.2693-32T>A) c.2698T>A (p.Ser900Thr) c.2671T>A (p.Ser891Thr) | |
7 | g.150947724G>A | CA458871013 | KCNH2 | n.3680C>T c.2847C>T (p.Ser949=) c.1827C>T (p.Ser609=) c.2547C>T (p.Ser849=) c.2693-33C>T (n.2693-33C>T) c.2697C>T (p.Ser899=) c.2670C>T (p.Ser890=) | |
7 | g.150947724G>C | CA035057 | KCNH2 | n.3680C>G c.2847C>G (p.Ser949Arg) c.1827C>G (p.Ser609Arg) c.2547C>G (p.Ser849Arg) c.2693-33C>G (n.2693-33C>G) c.2697C>G (p.Ser899Arg) c.2670C>G (p.Ser890Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947724G= | CA1752430115 | KCNH2 | n.3680C= c.2847C= (p.Ser949=) c.1827C= (p.Ser609=) c.2547C= (p.Ser849=) c.2693-33C= (n.2693-33C=) c.2697C= (p.Ser899=) c.2670C= (p.Ser890=) | |
7 | g.150947724G>T | CA369853275 | KCNH2 | n.3680C>A c.2847C>A (p.Ser949Arg) c.1827C>A (p.Ser609Arg) c.2547C>A (p.Ser849Arg) c.2693-33C>A (n.2693-33C>A) c.2697C>A (p.Ser899Arg) c.2670C>A (p.Ser890Arg) | gnomAD v4 |
7 | g.150947725C>A | CA369853276 | KCNH2 | n.3679G>T c.2846G>T (p.Ser949Ile) c.1826G>T (p.Ser609Ile) c.2546G>T (p.Ser849Ile) c.2693-34G>T (n.2693-34G>T) c.2696G>T (p.Ser899Ile) c.2669G>T (p.Ser890Ile) | ClinVar gnomAD v4 |
7 | g.150947725C= | CA1752430122 | KCNH2 | n.3679G= c.2846G= (p.Ser949=) c.1826G= (p.Ser609=) c.2546G= (p.Ser849=) c.2693-34G= (n.2693-34G=) c.2696G= (p.Ser899=) c.2669G= (p.Ser890=) | |
7 | g.150947725C>G | CA369853277 | KCNH2 | n.3679G>C c.2846G>C (p.Ser949Thr) c.1826G>C (p.Ser609Thr) c.2546G>C (p.Ser849Thr) c.2693-34G>C (n.2693-34G>C) c.2696G>C (p.Ser899Thr) c.2669G>C (p.Ser890Thr) | |
7 | g.150947725C>T | CA369853278 | KCNH2 | n.3679G>A c.2846G>A (p.Ser949Asn) c.1826G>A (p.Ser609Asn) c.2546G>A (p.Ser849Asn) c.2693-34G>A (n.2693-34G>A) c.2696G>A (p.Ser899Asn) c.2669G>A (p.Ser890Asn) | dbSNP gnomAD v2 |
7 | g.150947729_150947752del | CA2579062904 | KCNH2 | n.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 |