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.150947711G>A | CA007528 | KCNH2 | n.3693C>T c.2860C>T (p.Arg954Cys) c.1840C>T (p.Arg614Cys) c.2560C>T (p.Arg854Cys) c.2693-20C>T (n.2693-20C>T) c.2710C>T (p.Arg904Cys) c.2683C>T (p.Arg895Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947711G>C | CA369853249 | KCNH2 | n.3693C>G c.2860C>G (p.Arg954Gly) c.1840C>G (p.Arg614Gly) c.2560C>G (p.Arg854Gly) c.2693-20C>G (n.2693-20C>G) c.2710C>G (p.Arg904Gly) c.2683C>G (p.Arg895Gly) | |
7 | g.150947711G= | CA1752430092 | KCNH2 | n.3693C= c.2860C= (p.Arg954=) c.1840C= (p.Arg614=) c.2560C= (p.Arg854=) c.2693-20C= (n.2693-20C=) c.2710C= (p.Arg904=) c.2683C= (p.Arg895=) | |
7 | g.150947711G>T | CA369853250 | KCNH2 | n.3693C>A c.2860C>A (p.Arg954Ser) c.1840C>A (p.Arg614Ser) c.2560C>A (p.Arg854Ser) c.2693-20C>A (n.2693-20C>A) c.2710C>A (p.Arg904Ser) c.2683C>A (p.Arg895Ser) | |
7 | g.150947712G>A | CA458870984 | KCNH2 | n.3692C>T c.2859C>T (p.Leu953=) c.1839C>T (p.Leu613=) c.2559C>T (p.Leu853=) c.2693-21C>T (n.2693-21C>T) c.2709C>T (p.Leu903=) c.2682C>T (p.Leu894=) | |
7 | g.150947712G>C | CA458870985 | KCNH2 | n.3692C>G c.2859C>G (p.Leu953=) c.1839C>G (p.Leu613=) c.2559C>G (p.Leu853=) c.2693-21C>G (n.2693-21C>G) c.2709C>G (p.Leu903=) c.2682C>G (p.Leu894=) | |
7 | g.150947712G>T | CA458870986 | KCNH2 | n.3692C>A c.2859C>A (p.Leu953=) c.1839C>A (p.Leu613=) c.2559C>A (p.Leu853=) c.2693-21C>A (n.2693-21C>A) c.2709C>A (p.Leu903=) c.2682C>A (p.Leu894=) | gnomAD v4 |
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.150947713A>C | CA369853251 | KCNH2 | n.3691T>G c.2858T>G (p.Leu953Arg) c.1838T>G (p.Leu613Arg) c.2558T>G (p.Leu853Arg) c.2693-22T>G (n.2693-22T>G) c.2708T>G (p.Leu903Arg) c.2681T>G (p.Leu894Arg) | |
7 | g.150947713A>G | CA369853252 | KCNH2 | n.3691T>C c.2858T>C (p.Leu953Pro) c.1838T>C (p.Leu613Pro) c.2558T>C (p.Leu853Pro) c.2693-22T>C (n.2693-22T>C) c.2708T>C (p.Leu903Pro) c.2681T>C (p.Leu894Pro) | |
7 | g.150947713A>T | CA369853253 | KCNH2 | n.3691T>A c.2858T>A (p.Leu953His) c.1838T>A (p.Leu613His) c.2558T>A (p.Leu853His) c.2693-22T>A (n.2693-22T>A) c.2708T>A (p.Leu903His) c.2681T>A (p.Leu894His) | 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 |