| 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.150947703_150947704insCTCCAGGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGC | CA2499218788 | KCNH2 | n.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 |
| 7 | g.150947664_150947678del | CA2685602121 | KCNH2 | n.3728_3742del c.2895_2909del (p.Glu966_Gly970del) c.1875_1889del (p.Glu626_Gly630del) c.2595_2609del (p.Glu866_Gly870del) c.2708_2722del (p.Glu903_Val907del) c.2745_2759del (p.Glu916_Gly920del) c.2718_2732del (p.Glu907_Gly911del) | gnomAD v4 |
| 7 | g.150947670_150947680del | CA658761317 | KCNH2 | n.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?) | |
| 7 | g.150947671_150947673dup | CA2685602122 | KCNH2 | n.3735_3737dup c.2902_2904dup (p.Pro968_Gly969insPro) c.1882_1884dup (p.Pro628_Gly629insPro) c.2602_2604dup (p.Pro868_Gly869insPro) c.2715_2717dup (p.Arg906_Val907insArg) c.2752_2754dup (p.Pro918_Gly919insPro) c.2725_2727dup (p.Pro909_Gly910insPro) | gnomAD v4 |
| 7 | g.150947668G>A | CA007612 | KCNH2 | n.3736C>T c.2903C>T (p.Pro968Leu) c.1883C>T (p.Pro628Leu) c.2603C>T (p.Pro868Leu) c.2716C>T (p.Arg906Trp) c.2753C>T (p.Pro918Leu) c.2726C>T (p.Pro909Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947668G>C | CA369853169 | KCNH2 | n.3736C>G c.2903C>G (p.Pro968Arg) c.1883C>G (p.Pro628Arg) c.2603C>G (p.Pro868Arg) c.2716C>G (p.Arg906Gly) c.2753C>G (p.Pro918Arg) c.2726C>G (p.Pro909Arg) | |
| 7 | g.150947668G= | CA1752429952 | KCNH2 | n.3736C= c.2903C= (p.Pro968=) c.1883C= (p.Pro628=) c.2603C= (p.Pro868=) c.2716C= (p.Arg906=) c.2753C= (p.Pro918=) c.2726C= (p.Pro909=) | |
| 7 | g.150947668G>T | CA369853170 | KCNH2 | n.3736C>A c.2903C>A (p.Pro968Gln) c.1883C>A (p.Pro628Gln) c.2603C>A (p.Pro868Gln) c.2716C>A (p.Arg906=) c.2753C>A (p.Pro918Gln) c.2726C>A (p.Pro909Gln) | |
| 7 | g.150947669dup | CA2580077738 | KCNH2 | n.3736dup c.2903dup (p.Gly970TrpfsTer?) c.1883dup (p.Gly630TrpfsTer?) c.2603dup (p.Gly870TrpfsTer?) c.2716dup (p.Arg906ProfsTer?) c.2753dup (p.Gly920TrpfsTer?) c.2726dup (p.Gly911TrpfsTer?) | ClinVar |
| 7 | g.150947669_150947672dup | CA2580077737 | KCNH2 | n.3733_3736dup c.2900_2903dup (p.Gly969AlafsTer?) c.1880_1883dup (p.Gly629AlafsTer?) c.2600_2603dup (p.Gly869AlafsTer?) c.2713_2716dup (p.Arg906ProfsTer?) c.2750_2753dup (p.Gly919AlafsTer?) c.2723_2726dup (p.Gly910AlafsTer?) | ClinVar |
| 7 | g.150947669G>A | CA369853171 | KCNH2 | n.3735C>T c.2902C>T (p.Pro968Ser) c.1882C>T (p.Pro628Ser) c.2602C>T (p.Pro868Ser) c.2715C>T (p.Arg905=) c.2752C>T (p.Pro918Ser) c.2725C>T (p.Pro909Ser) | gnomAD v4 |
| 7 | g.150947669G>C | CA035405 | KCNH2 | n.3735C>G c.2902C>G (p.Pro968Ala) c.1882C>G (p.Pro628Ala) c.2602C>G (p.Pro868Ala) c.2715C>G (p.Arg905=) c.2752C>G (p.Pro918Ala) c.2725C>G (p.Pro909Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947669G= | CA1752429959 | KCNH2 | n.3735C= c.2902C= (p.Pro968=) c.1882C= (p.Pro628=) c.2602C= (p.Pro868=) c.2715C= (p.Arg905=) c.2752C= (p.Pro918=) c.2725C= (p.Pro909=) | |
| 7 | g.150947669G>T | CA369853172 | KCNH2 | n.3735C>A c.2902C>A (p.Pro968Thr) c.1882C>A (p.Pro628Thr) c.2602C>A (p.Pro868Thr) c.2715C>A (p.Arg905=) c.2752C>A (p.Pro918Thr) c.2725C>A (p.Pro909Thr) | gnomAD v4 |
| 7 | g.150947670C>A | CA035383 | KCNH2 | n.3734G>T c.2901G>T (p.Pro967=) c.1881G>T (p.Pro627=) c.2601G>T (p.Pro867=) c.2714G>T (p.Arg905Leu) c.2751G>T (p.Pro917=) c.2724G>T (p.Pro908=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947670C= | CA1752429972 | KCNH2 | n.3734G= c.2901G= (p.Pro967=) c.1881G= (p.Pro627=) c.2601G= (p.Pro867=) c.2714G= (p.Arg905=) c.2751G= (p.Pro917=) c.2724G= (p.Pro908=) | |
| 7 | g.150947670C>G | CA458870888 | KCNH2 | n.3734G>C c.2901G>C (p.Pro967=) c.1881G>C (p.Pro627=) c.2601G>C (p.Pro867=) c.2714G>C (p.Arg905Pro) c.2751G>C (p.Pro917=) c.2724G>C (p.Pro908=) | ClinVar gnomAD v4 |
| 7 | g.150947670C>T | CA035360 | KCNH2 | n.3734G>A c.2901G>A (p.Pro967=) c.1881G>A (p.Pro627=) c.2601G>A (p.Pro867=) c.2714G>A (p.Arg905His) c.2751G>A (p.Pro917=) c.2724G>A (p.Pro908=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947671_150947675dup | CA2695208803 | KCNH2 | n.3730_3734dup c.2897_2901dup (p.Pro968SerfsTer8) c.1877_1881dup (p.Pro628SerfsTer8) c.2597_2601dup (p.Pro868SerfsTer8) c.2710_2714dup (p.Arg906AlafsTer?) c.2747_2751dup (p.Pro918SerfsTer8) c.2720_2724dup (p.Pro909SerfsTer8) | |
| 7 | g.150947671G>A | CA007598 | KCNH2 | n.3733C>T c.2900C>T (p.Pro967Leu) c.1880C>T (p.Pro627Leu) c.2600C>T (p.Pro867Leu) c.2713C>T (p.Arg905Cys) c.2750C>T (p.Pro917Leu) c.2723C>T (p.Pro908Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947671G>C | CA369853173 | KCNH2 | n.3733C>G c.2900C>G (p.Pro967Arg) c.1880C>G (p.Pro627Arg) c.2600C>G (p.Pro867Arg) c.2713C>G (p.Arg905Gly) c.2750C>G (p.Pro917Arg) c.2723C>G (p.Pro908Arg) | |
| 7 | g.150947671G= | CA1752429981 | KCNH2 | n.3733C= c.2900C= (p.Pro967=) c.1880C= (p.Pro627=) c.2600C= (p.Pro867=) c.2713C= (p.Arg905=) c.2750C= (p.Pro917=) c.2723C= (p.Pro908=) | |
| 7 | g.150947671G>T | CA369853174 | KCNH2 | n.3733C>A c.2900C>A (p.Pro967Gln) c.1880C>A (p.Pro627Gln) c.2600C>A (p.Pro867Gln) c.2713C>A (p.Arg905Ser) c.2750C>A (p.Pro917Gln) c.2723C>A (p.Pro908Gln) | gnomAD v4 |
| 7 | g.150947672dup | CA305332 | KCNH2 | n.3733dup c.2900dup (p.Pro968AlafsTer?) c.1880dup (p.Pro628AlafsTer?) c.2600dup (p.Pro868AlafsTer?) c.2713dup (p.Arg905ProfsTer?) c.2750dup (p.Pro918AlafsTer?) c.2723dup (p.Pro909AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947672G>A | CA169072464 | KCNH2 | n.3732C>T c.2899C>T (p.Pro967Ser) c.1879C>T (p.Pro627Ser) c.2599C>T (p.Pro867Ser) c.2712C>T (p.Ser904=) c.2749C>T (p.Pro917Ser) c.2722C>T (p.Pro908Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947672G>C | CA369853175 | KCNH2 | n.3732C>G c.2899C>G (p.Pro967Ala) c.1879C>G (p.Pro627Ala) c.2599C>G (p.Pro867Ala) c.2712C>G (p.Ser904Arg) c.2749C>G (p.Pro917Ala) c.2722C>G (p.Pro908Ala) | |
| 7 | g.150947672G= | CA1752429988 | KCNH2 | n.3732C= c.2899C= (p.Pro967=) c.1879C= (p.Pro627=) c.2599C= (p.Pro867=) c.2712C= (p.Ser904=) c.2749C= (p.Pro917=) c.2722C= (p.Pro908=) | |
| 7 | g.150947672G>T | CA369853176 | KCNH2 | n.3732C>A c.2899C>A (p.Pro967Thr) c.1879C>A (p.Pro627Thr) c.2599C>A (p.Pro867Thr) c.2712C>A (p.Ser904Arg) c.2749C>A (p.Pro917Thr) c.2722C>A (p.Pro908Thr) | dbSNP |
| 7 | g.150947673C>A | CA369853177 | KCNH2 | n.3731G>T c.2898G>T (p.Glu966Asp) c.1878G>T (p.Glu626Asp) c.2598G>T (p.Glu866Asp) c.2711G>T (p.Ser904Ile) c.2748G>T (p.Glu916Asp) c.2721G>T (p.Glu907Asp) | |
| 7 | g.150947673C>G | CA369853178 | KCNH2 | n.3731G>C c.2898G>C (p.Glu966Asp) c.1878G>C (p.Glu626Asp) c.2598G>C (p.Glu866Asp) c.2711G>C (p.Ser904Thr) c.2748G>C (p.Glu916Asp) c.2721G>C (p.Glu907Asp) | |
| 7 | g.150947673C>T | CA458870898 | KCNH2 | n.3731G>A c.2898G>A (p.Glu966=) c.1878G>A (p.Glu626=) c.2598G>A (p.Glu866=) c.2711G>A (p.Ser904Asn) c.2748G>A (p.Glu916=) c.2721G>A (p.Glu907=) | |
| 7 | g.150947673_150947674delinsGG | CA2573141851 | KCNH2 | n.3730_3731delinsCC c.2897_2898delinsCC (p.Glu966Ala) c.1877_1878delinsCC (p.Glu626Ala) c.2597_2598delinsCC (p.Glu866Ala) c.2710_2711delinsCC (p.Ser904Pro) c.2747_2748delinsCC (p.Glu916Ala) c.2720_2721delinsCC (p.Glu907Ala) | ClinVar dbSNP |
| 7 | g.150947674T>A | CA369853180 | KCNH2 | n.3730A>T c.2897A>T (p.Glu966Val) c.1877A>T (p.Glu626Val) c.2597A>T (p.Glu866Val) c.2710A>T (p.Ser904Cys) c.2747A>T (p.Glu916Val) c.2720A>T (p.Glu907Val) | gnomAD v4 |
| 7 | g.150947674T>C | CA369853179 | KCNH2 | n.3730A>G c.2897A>G (p.Glu966Gly) c.1877A>G (p.Glu626Gly) c.2597A>G (p.Glu866Gly) c.2710A>G (p.Ser904Gly) c.2747A>G (p.Glu916Gly) c.2720A>G (p.Glu907Gly) | |
| 7 | g.150947674T>G | CA035308 | KCNH2 | n.3730A>C c.2897A>C (p.Glu966Ala) c.1877A>C (p.Glu626Ala) c.2597A>C (p.Glu866Ala) c.2710A>C (p.Ser904Arg) c.2747A>C (p.Glu916Ala) c.2720A>C (p.Glu907Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947674T= | CA1752429998 | KCNH2 | n.3730A= c.2897A= (p.Glu966=) c.1877A= (p.Glu626=) c.2597A= (p.Glu866=) c.2710A= (p.Ser904=) c.2747A= (p.Glu916=) c.2720A= (p.Glu907=) | |
| 7 | g.150947675C>A | CA369853181 | KCNH2 | n.3729G>T c.2896G>T (p.Glu966Ter) c.1876G>T (p.Glu626Ter) c.2596G>T (p.Glu866Ter) c.2709G>T (p.Glu903Asp) c.2746G>T (p.Glu916Ter) c.2719G>T (p.Glu907Ter) | gnomAD v4 |
| 7 | g.150947675C= | CA1752430001 | KCNH2 | n.3729G= c.2896G= (p.Glu966=) c.1876G= (p.Glu626=) c.2596G= (p.Glu866=) c.2709G= (p.Glu903=) c.2746G= (p.Glu916=) c.2719G= (p.Glu907=) | |
| 7 | g.150947675C>G | CA369853182 | KCNH2 | n.3729G>C c.2896G>C (p.Glu966Gln) c.1876G>C (p.Glu626Gln) c.2596G>C (p.Glu866Gln) c.2709G>C (p.Glu903Asp) c.2746G>C (p.Glu916Gln) c.2719G>C (p.Glu907Gln) | |
| 7 | g.150947675C>T | CA035287 | KCNH2 | n.3729G>A c.2896G>A (p.Glu966Lys) c.1876G>A (p.Glu626Lys) c.2596G>A (p.Glu866Lys) c.2709G>A (p.Glu903=) c.2746G>A (p.Glu916Lys) c.2719G>A (p.Glu907Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947676T>A | CA458870904 | KCNH2 | n.3728A>T c.2895A>T (p.Gly965=) c.1875A>T (p.Gly625=) c.2595A>T (p.Gly865=) c.2708A>T (p.Glu903Val) c.2745A>T (p.Gly915=) c.2718A>T (p.Gly906=) | |
| 7 | g.150947676T>C | CA458870905 | KCNH2 | n.3728A>G c.2895A>G (p.Gly965=) c.1875A>G (p.Gly625=) c.2595A>G (p.Gly865=) c.2708A>G (p.Glu903Gly) c.2745A>G (p.Gly915=) c.2718A>G (p.Gly906=) | |
| 7 | g.150947676T>G | CA458870907 | KCNH2 | n.3728A>C c.2895A>C (p.Gly965=) c.1875A>C (p.Gly625=) c.2595A>C (p.Gly865=) c.2708A>C (p.Glu903Ala) c.2745A>C (p.Gly915=) c.2718A>C (p.Gly906=) | |
| 7 | g.150947677C>A | CA369853183 | KCNH2 | n.3727G>T c.2894G>T (p.Gly965Val) c.1874G>T (p.Gly625Val) c.2594G>T (p.Gly865Val) c.2707G>T (p.Glu903Ter) c.2744G>T (p.Gly915Val) c.2717G>T (p.Gly906Val) | gnomAD v4 |
| 7 | g.150947677C>G | CA369853185 | KCNH2 | n.3727G>C c.2894G>C (p.Gly965Ala) c.1874G>C (p.Gly625Ala) c.2594G>C (p.Gly865Ala) c.2707G>C (p.Glu903Gln) c.2744G>C (p.Gly915Ala) c.2717G>C (p.Gly906Ala) | |
| 7 | g.150947677C>T | CA369853184 | KCNH2 | n.3727G>A c.2894G>A (p.Gly965Glu) c.1874G>A (p.Gly625Glu) c.2594G>A (p.Gly865Glu) c.2707G>A (p.Glu903Lys) c.2744G>A (p.Gly915Glu) c.2717G>A (p.Gly906Glu) | |
| 7 | g.150947678del | CA2580077739 | KCNH2 | n.3727del c.2894del (p.Gly965GlufsTer9) c.1874del (p.Gly625GlufsTer9) c.2594del (p.Gly865GlufsTer9) c.2707del (p.Glu903ArgfsTer?) c.2744del (p.Gly915GlufsTer9) c.2717del (p.Gly906GlufsTer9) | ClinVar |
| 7 | g.150947678C>A | CA369853186 | KCNH2 | n.3726G>T c.2893G>T (p.Gly965Ter) c.1873G>T (p.Gly625Ter) c.2593G>T (p.Gly865Ter) c.2706G>T (p.Pro902=) c.2743G>T (p.Gly915Ter) c.2716G>T (p.Gly906Ter) | gnomAD v4 |
| 7 | g.150947678C= | CA1752430006 | KCNH2 | n.3726G= c.2893G= (p.Gly965=) c.1873G= (p.Gly625=) c.2593G= (p.Gly865=) c.2706G= (p.Pro902=) c.2743G= (p.Gly915=) c.2716G= (p.Gly906=) | |
| 7 | g.150947678C>G | CA369853187 | KCNH2 | n.3726G>C c.2893G>C (p.Gly965Arg) c.1873G>C (p.Gly625Arg) c.2593G>C (p.Gly865Arg) c.2706G>C (p.Pro902=) c.2743G>C (p.Gly915Arg) c.2716G>C (p.Gly906Arg) | |
| 7 | g.150947678C>T | CA007590 | KCNH2 | n.3726G>A c.2893G>A (p.Gly965Arg) c.1873G>A (p.Gly625Arg) c.2593G>A (p.Gly865Arg) c.2706G>A (p.Pro902=) c.2743G>A (p.Gly915Arg) c.2716G>A (p.Gly906Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947678_150947679delinsCG | CA1752430008 | KCNH2 | n.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=) | |
| 7 | g.150947679G>A | CA035253 | KCNH2 | n.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 |
| 7 | g.150947679G>C | CA035233 | KCNH2 | n.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 |
| 7 | g.150947679G= | CA1752430021 | KCNH2 | n.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=) | |
| 7 | g.150947679G>T | CA458870917 | KCNH2 | n.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 |
| 7 | g.150947684dup | CA305331 | KCNH2 | n.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 |
| 7 | g.150947683_150947684dup | CA2695208804 | KCNH2 | n.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) | |
| 7 | g.150947684del | CA16618400 | KCNH2 | n.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 |
| 7 | g.150947680G>A | CA369853188 | KCNH2 | n.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 |
| 7 | g.150947680G>C | CA169072486 | KCNH2 | n.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 |
| 7 | g.150947680G= | CA1752430028 | KCNH2 | n.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=) | |
| 7 | g.150947680G>T | CA369853189 | KCNH2 | n.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) | |
| 7 | g.150947681G>A | CA369853190 | KCNH2 | n.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) | |
| 7 | g.150947681G>C | CA10628480 | KCNH2 | n.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 |
| 7 | g.150947681G= | CA1752430032 | KCNH2 | n.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=) | |
| 7 | g.150947681G>T | CA369853191 | KCNH2 | n.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) | |
| 7 | g.150947682G>A | CA035208 | KCNH2 | n.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 |
| 7 | g.150947682G>C | CA458870923 | KCNH2 | n.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 |
| 7 | g.150947682G= | CA1752430038 | KCNH2 | n.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=) | |
| 7 | g.150947682G>T | CA458870924 | KCNH2 | n.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 |
| 7 | g.150947682_150947684delinsGGG | CA1752430044 | KCNH2 | n.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=) | |
| 7 | g.150947683G>A | CA369853192 | KCNH2 | n.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 |
| 7 | g.150947683G>C | CA369853193 | KCNH2 | n.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 |
| 7 | g.150947683G>T | CA369853194 | KCNH2 | n.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) | |
| 7 | g.150947683_150947684delinsT | CA16618401 | KCNH2 | n.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 |
| 7 | g.150947684G>A | CA369853195 | KCNH2 | n.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 |
| 7 | g.150947684G>C | CA369853196 | KCNH2 | n.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 |
| 7 | g.150947684G= | CA1752430055 | KCNH2 | n.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=) | |
| 7 | g.150947684G>T | CA007577 | KCNH2 | n.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 |
| 7 | g.150947685_150947688dup | CA2695199642 | KCNH2 | n.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 |
| 7 | g.150947685C>A | CA369853197 | KCNH2 | n.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) | |
| 7 | g.150947685C= | CA1752430061 | KCNH2 | n.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=) | |
| 7 | g.150947685C>G | CA369853198 | KCNH2 | n.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) | |
| 7 | g.150947685C>T | CA035174 | KCNH2 | n.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 |
| 7 | g.150947686del | CA2695208805 | KCNH2 | n.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) | |
| 7 | g.150947686C>A | CA369853199 | KCNH2 | n.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 |
| 7 | g.150947686C>G | CA369853200 | KCNH2 | n.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) | |
| 7 | g.150947686C>T | CA369853201 | KCNH2 | n.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 |
| 7 | g.150947687T>A | CA369853203 | KCNH2 | n.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 |
| 7 | g.150947687T>C | CA369853202 | KCNH2 | n.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 |
| 7 | g.150947687T>G | CA458870930 | KCNH2 | n.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=) | |
| 7 | g.150947688G>A | CA458870932 | KCNH2 | n.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 |
| 7 | g.150947688G>C | CA458870933 | KCNH2 | n.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=) | |
| 7 | g.150947688G= | CA1752430062 | KCNH2 | n.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=) | |
| 7 | g.150947688G>T | CA458870934 | KCNH2 | n.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=) | |
| 7 | g.150947691del | CA2685602123 | KCNH2 | n.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 |
| 7 | g.150947689G>A | CA369853204 | KCNH2 | n.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 |
| 7 | g.150947689G>C | CA369853205 | KCNH2 | n.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) | |
| 7 | g.150947689G>T | CA369853206 | KCNH2 | n.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 |
| 7 | g.150947690G>A | CA369853207 | KCNH2 | n.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 |
| 7 | g.150947690G>C | CA369853208 | KCNH2 | n.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) | |
| 7 | g.150947690G>T | CA369853209 | KCNH2 | n.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 |
| 7 | g.150947691G>A | CA458870939 | KCNH2 | n.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 |
| 7 | g.150947691G>C | CA369853211 | KCNH2 | n.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) | |
| 7 | g.150947691G>T | CA369853210 | KCNH2 | n.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 |
| 7 | g.150947692C>A | CA369853212 | KCNH2 | n.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 |
| 7 | g.150947692C= | CA1752430064 | KCNH2 | n.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=) | |
| 7 | g.150947692C>G | CA369853213 | KCNH2 | n.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) | |
| 7 | g.150947692C>T | CA007556 | KCNH2 | n.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 |
| 7 | g.150947693T>A | CA369853214 | KCNH2 | n.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) | |
| 7 | g.150947693T>C | CA369853215 | KCNH2 | n.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) | |
| 7 | g.150947693T>G | CA369853216 | KCNH2 | n.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) | |
| 7 | g.150947694G>A | CA458870943 | KCNH2 | n.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 |
| 7 | g.150947694G>C | CA458870944 | KCNH2 | n.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=) | |
| 7 | g.150947694G>T | CA458870946 | KCNH2 | n.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 |
| 7 | g.150947695G>A | CA369853217 | KCNH2 | n.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 |
| 7 | g.150947695G>C | CA369853219 | KCNH2 | n.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 |
| 7 | g.150947695G= | CA1752430069 | KCNH2 | n.3709C= c.2876C= (p.Ser959=) c.1856C= (p.Ser619=) c.2576C= (p.Ser859=) c.2693-4C= (n.2693-4C=) c.2726C= (p.Ser909=) c.2699C= (p.Ser900=) | |
| 7 | g.150947695G>T | CA369853218 | KCNH2 | n.3709C>A c.2876C>A (p.Ser959Tyr) c.1856C>A (p.Ser619Tyr) c.2576C>A (p.Ser859Tyr) c.2693-4C>A (n.2693-4C>A) c.2726C>A (p.Ser909Tyr) c.2699C>A (p.Ser900Tyr) | gnomAD v4 |
| 7 | g.150947696A= | CA1752430070 | KCNH2 | n.3708T= c.2875T= (p.Ser959=) c.1855T= (p.Ser619=) c.2575T= (p.Ser859=) c.2693-5T= (n.2693-5T=) c.2725T= (p.Ser909=) c.2698T= (p.Ser900=) | |
| 7 | g.150947696A>C | CA369853220 | KCNH2 | n.3708T>G c.2875T>G (p.Ser959Ala) c.1855T>G (p.Ser619Ala) c.2575T>G (p.Ser859Ala) c.2693-5T>G (n.2693-5T>G) c.2725T>G (p.Ser909Ala) c.2698T>G (p.Ser900Ala) | |
| 7 | g.150947696A>G | CA369853221 | KCNH2 | n.3708T>C c.2875T>C (p.Ser959Pro) c.1855T>C (p.Ser619Pro) c.2575T>C (p.Ser859Pro) c.2693-5T>C (n.2693-5T>C) c.2725T>C (p.Ser909Pro) c.2698T>C (p.Ser900Pro) | |
| 7 | g.150947696A>T | CA369853222 | KCNH2 | n.3708T>A c.2875T>A (p.Ser959Thr) c.1855T>A (p.Ser619Thr) c.2575T>A (p.Ser859Thr) c.2693-5T>A (n.2693-5T>A) c.2725T>A (p.Ser909Thr) c.2698T>A (p.Ser900Thr) | ClinVar dbSNP |
| 7 | g.150947697G>A | CA458870948 | KCNH2 | n.3707C>T c.2874C>T (p.Phe958=) c.1854C>T (p.Phe618=) c.2574C>T (p.Phe858=) c.2693-6C>T (n.2693-6C>T) c.2724C>T (p.Phe908=) c.2697C>T (p.Phe899=) | |
| 7 | g.150947697G>C | CA369853223 | KCNH2 | n.3707C>G c.2874C>G (p.Phe958Leu) c.1854C>G (p.Phe618Leu) c.2574C>G (p.Phe858Leu) c.2693-6C>G (n.2693-6C>G) c.2724C>G (p.Phe908Leu) c.2697C>G (p.Phe899Leu) | |
| 7 | g.150947697G= | CA1752430076 | KCNH2 | n.3707C= c.2874C= (p.Phe958=) c.1854C= (p.Phe618=) c.2574C= (p.Phe858=) c.2693-6C= (n.2693-6C=) c.2724C= (p.Phe908=) c.2697C= (p.Phe899=) | |
| 7 | g.150947697G>T | CA369853224 | KCNH2 | n.3707C>A c.2874C>A (p.Phe958Leu) c.1854C>A (p.Phe618Leu) c.2574C>A (p.Phe858Leu) c.2693-6C>A (n.2693-6C>A) c.2724C>A (p.Phe908Leu) c.2697C>A (p.Phe899Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947698A>C | CA369853225 | KCNH2 | n.3706T>G c.2873T>G (p.Phe958Cys) c.1853T>G (p.Phe618Cys) c.2573T>G (p.Phe858Cys) c.2693-7T>G (n.2693-7T>G) c.2723T>G (p.Phe908Cys) c.2696T>G (p.Phe899Cys) | |
| 7 | g.150947698A>G | CA369853226 | KCNH2 | n.3706T>C c.2873T>C (p.Phe958Ser) c.1853T>C (p.Phe618Ser) c.2573T>C (p.Phe858Ser) c.2693-7T>C (n.2693-7T>C) c.2723T>C (p.Phe908Ser) c.2696T>C (p.Phe899Ser) | |
| 7 | g.150947698A>T | CA369853227 | KCNH2 | n.3706T>A c.2873T>A (p.Phe958Tyr) c.1853T>A (p.Phe618Tyr) c.2573T>A (p.Phe858Tyr) c.2693-7T>A (n.2693-7T>A) c.2723T>A (p.Phe908Tyr) c.2696T>A (p.Phe899Tyr) | |
| 7 | g.150947699A>C | CA369853228 | KCNH2 | n.3705T>G c.2872T>G (p.Phe958Val) c.1852T>G (p.Phe618Val) c.2572T>G (p.Phe858Val) c.2693-8T>G (n.2693-8T>G) c.2722T>G (p.Phe908Val) c.2695T>G (p.Phe899Val) | |
| 7 | g.150947699A>G | CA369853229 | KCNH2 | n.3705T>C c.2872T>C (p.Phe958Leu) c.1852T>C (p.Phe618Leu) c.2572T>C (p.Phe858Leu) c.2693-8T>C (n.2693-8T>C) c.2722T>C (p.Phe908Leu) c.2695T>C (p.Phe899Leu) | |
| 7 | g.150947699A>T | CA369853230 | KCNH2 | n.3705T>A c.2872T>A (p.Phe958Ile) c.1852T>A (p.Phe618Ile) c.2572T>A (p.Phe858Ile) c.2693-8T>A (n.2693-8T>A) c.2722T>A (p.Phe908Ile) c.2695T>A (p.Phe899Ile) | gnomAD v4 |
| 7 | g.150947700G>A | CA458870955 | KCNH2 | n.3704C>T c.2871C>T (p.Pro957=) c.1851C>T (p.Pro617=) c.2571C>T (p.Pro857=) c.2693-9C>T (n.2693-9C>T) c.2721C>T (p.Pro907=) c.2694C>T (p.Pro898=) | dbSNP gnomAD v2 |
| 7 | g.150947700G>C | CA458870954 | KCNH2 | n.3704C>G c.2871C>G (p.Pro957=) c.1851C>G (p.Pro617=) c.2571C>G (p.Pro857=) c.2693-9C>G (n.2693-9C>G) c.2721C>G (p.Pro907=) c.2694C>G (p.Pro898=) | |
| 7 | g.150947700G= | CA1752430077 | KCNH2 | n.3704C= c.2871C= (p.Pro957=) c.1851C= (p.Pro617=) c.2571C= (p.Pro857=) c.2693-9C= (n.2693-9C=) c.2721C= (p.Pro907=) c.2694C= (p.Pro898=) | |
| 7 | g.150947700G>T | CA458870953 | KCNH2 | n.3704C>A c.2871C>A (p.Pro957=) c.1851C>A (p.Pro617=) c.2571C>A (p.Pro857=) c.2693-9C>A (n.2693-9C>A) c.2721C>A (p.Pro907=) c.2694C>A (p.Pro898=) | gnomAD v4 |
| 7 | g.150947701G>A | CA369853233 | KCNH2 | n.3703C>T c.2870C>T (p.Pro957Leu) c.1850C>T (p.Pro617Leu) c.2570C>T (p.Pro857Leu) c.2693-10C>T (n.2693-10C>T) c.2720C>T (p.Pro907Leu) c.2693C>T (p.Pro898Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947701G>C | CA369853232 | KCNH2 | n.3703C>G c.2870C>G (p.Pro957Arg) c.1850C>G (p.Pro617Arg) c.2570C>G (p.Pro857Arg) c.2693-10C>G (n.2693-10C>G) c.2720C>G (p.Pro907Arg) c.2693C>G (p.Pro898Arg) | |
| 7 | g.150947701G= | CA1752430078 | KCNH2 | n.3703C= c.2870C= (p.Pro957=) c.1850C= (p.Pro617=) c.2570C= (p.Pro857=) c.2693-10C= (n.2693-10C=) c.2720C= (p.Pro907=) c.2693C= (p.Pro898=) | |
| 7 | g.150947701G>T | CA369853231 | KCNH2 | n.3703C>A c.2870C>A (p.Pro957His) c.1850C>A (p.Pro617His) c.2570C>A (p.Pro857His) c.2693-10C>A (n.2693-10C>A) c.2720C>A (p.Pro907His) c.2693C>A (p.Pro898His) | |
| 7 | g.150947702G>A | CA369853234 | KCNH2 | n.3702C>T c.2869C>T (p.Pro957Ser) c.1849C>T (p.Pro617Ser) c.2569C>T (p.Pro857Ser) c.2693-11C>T (n.2693-11C>T) c.2719C>T (p.Pro907Ser) c.2692C>T (p.Pro898Ser) | gnomAD v4 |
| 7 | g.150947702G>C | CA369853236 | KCNH2 | n.3702C>G c.2869C>G (p.Pro957Ala) c.1849C>G (p.Pro617Ala) c.2569C>G (p.Pro857Ala) c.2693-11C>G (n.2693-11C>G) c.2719C>G (p.Pro907Ala) c.2692C>G (p.Pro898Ala) | |
| 7 | g.150947702G>T | CA369853235 | KCNH2 | n.3702C>A c.2869C>A (p.Pro957Thr) c.1849C>A (p.Pro617Thr) c.2569C>A (p.Pro857Thr) c.2693-11C>A (n.2693-11C>A) c.2719C>A (p.Pro907Thr) c.2692C>A (p.Pro898Thr) | gnomAD v4 |
| 7 | g.150947703C>A | CA458870960 | KCNH2 | n.3701G>T c.2868G>T (p.Val956=) c.1848G>T (p.Val616=) c.2568G>T (p.Val856=) c.2693-12G>T (n.2693-12G>T) c.2718G>T (p.Val906=) c.2691G>T (p.Val897=) | gnomAD v4 |
| 7 | g.150947703C= | CA1752430083 | KCNH2 | n.3701G= c.2868G= (p.Val956=) c.1848G= (p.Val616=) c.2568G= (p.Val856=) c.2693-12G= (n.2693-12G=) c.2718G= (p.Val906=) c.2691G= (p.Val897=) | |
| 7 | g.150947703C>G | CA458870961 | KCNH2 | n.3701G>C c.2868G>C (p.Val956=) c.1848G>C (p.Val616=) c.2568G>C (p.Val856=) c.2693-12G>C (n.2693-12G>C) c.2718G>C (p.Val906=) c.2691G>C (p.Val897=) | |
| 7 | g.150947703C>T | CA035158 | KCNH2 | n.3701G>A c.2868G>A (p.Val956=) c.1848G>A (p.Val616=) c.2568G>A (p.Val856=) c.2693-12G>A (n.2693-12G>A) c.2718G>A (p.Val906=) c.2691G>A (p.Val897=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947704A>C | CA369853237 | KCNH2 | n.3700T>G c.2867T>G (p.Val956Gly) c.1847T>G (p.Val616Gly) c.2567T>G (p.Val856Gly) c.2693-13T>G (n.2693-13T>G) c.2717T>G (p.Val906Gly) c.2690T>G (p.Val897Gly) | |
| 7 | g.150947704A>G | CA369853238 | KCNH2 | n.3700T>C c.2867T>C (p.Val956Ala) c.1847T>C (p.Val616Ala) c.2567T>C (p.Val856Ala) c.2693-13T>C (n.2693-13T>C) c.2717T>C (p.Val906Ala) c.2690T>C (p.Val897Ala) | |
| 7 | g.150947704A>T | CA369853239 | KCNH2 | n.3700T>A c.2867T>A (p.Val956Glu) c.1847T>A (p.Val616Glu) c.2567T>A (p.Val856Glu) c.2693-13T>A (n.2693-13T>A) c.2717T>A (p.Val906Glu) c.2690T>A (p.Val897Glu) | |
| 7 | g.150947705C>A | CA369853240 | KCNH2 | n.3699G>T c.2866G>T (p.Val956Leu) c.1846G>T (p.Val616Leu) c.2566G>T (p.Val856Leu) c.2693-14G>T (n.2693-14G>T) c.2716G>T (p.Val906Leu) c.2689G>T (p.Val897Leu) | |
| 7 | g.150947705C= | CA1752430085 | KCNH2 | n.3699G= c.2866G= (p.Val956=) c.1846G= (p.Val616=) c.2566G= (p.Val856=) c.2693-14G= (n.2693-14G=) c.2716G= (p.Val906=) c.2689G= (p.Val897=) | |
| 7 | g.150947705C>G | CA369853241 | KCNH2 | n.3699G>C c.2866G>C (p.Val956Leu) c.1846G>C (p.Val616Leu) c.2566G>C (p.Val856Leu) c.2693-14G>C (n.2693-14G>C) c.2716G>C (p.Val906Leu) c.2689G>C (p.Val897Leu) | |
| 7 | g.150947705C>T | CA369853242 | KCNH2 | n.3699G>A c.2866G>A (p.Val956Met) c.1846G>A (p.Val616Met) c.2566G>A (p.Val856Met) c.2693-14G>A (n.2693-14G>A) c.2716G>A (p.Val906Met) c.2689G>A (p.Val897Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947706C>A | CA458870968 | KCNH2 | n.3698G>T c.2865G>T (p.Leu955=) c.1845G>T (p.Leu615=) c.2565G>T (p.Leu855=) c.2693-15G>T (n.2693-15G>T) c.2715G>T (p.Leu905=) c.2688G>T (p.Leu896=) | |
| 7 | g.150947706C>G | CA458870969 | KCNH2 | n.3698G>C c.2865G>C (p.Leu955=) c.1845G>C (p.Leu615=) c.2565G>C (p.Leu855=) c.2693-15G>C (n.2693-15G>C) c.2715G>C (p.Leu905=) c.2688G>C (p.Leu896=) | ClinVar |
| 7 | g.150947706C>T | CA458870970 | KCNH2 | n.3698G>A c.2865G>A (p.Leu955=) c.1845G>A (p.Leu615=) c.2565G>A (p.Leu855=) c.2693-15G>A (n.2693-15G>A) c.2715G>A (p.Leu905=) c.2688G>A (p.Leu896=) | gnomAD v4 |
| 7 | g.150947707A>C | CA369853243 | KCNH2 | n.3697T>G c.2864T>G (p.Leu955Arg) c.1844T>G (p.Leu615Arg) c.2564T>G (p.Leu855Arg) c.2693-16T>G (n.2693-16T>G) c.2714T>G (p.Leu905Arg) c.2687T>G (p.Leu896Arg) | |
| 7 | g.150947707A>G | CA369853244 | KCNH2 | n.3697T>C c.2864T>C (p.Leu955Pro) c.1844T>C (p.Leu615Pro) c.2564T>C (p.Leu855Pro) c.2693-16T>C (n.2693-16T>C) c.2714T>C (p.Leu905Pro) c.2687T>C (p.Leu896Pro) | ClinVar gnomAD v4 |
| 7 | g.150947707A>T | CA369853245 | KCNH2 | n.3697T>A c.2864T>A (p.Leu955Gln) c.1844T>A (p.Leu615Gln) c.2564T>A (p.Leu855Gln) c.2693-16T>A (n.2693-16T>A) c.2714T>A (p.Leu905Gln) c.2687T>A (p.Leu896Gln) | |
| 7 | g.150947708G>A | CA458870974 | KCNH2 | n.3696C>T c.2863C>T (p.Leu955=) c.1843C>T (p.Leu615=) c.2563C>T (p.Leu855=) c.2693-17C>T (n.2693-17C>T) c.2713C>T (p.Leu905=) c.2686C>T (p.Leu896=) | dbSNP gnomAD v4 |
| 7 | g.150947708G>C | CA007537 | KCNH2 | n.3696C>G c.2863C>G (p.Leu955Val) c.1843C>G (p.Leu615Val) c.2563C>G (p.Leu855Val) c.2693-17C>G (n.2693-17C>G) c.2713C>G (p.Leu905Val) c.2686C>G (p.Leu896Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947708G= | CA1752430086 | KCNH2 | n.3696C= c.2863C= (p.Leu955=) c.1843C= (p.Leu615=) c.2563C= (p.Leu855=) c.2693-17C= (n.2693-17C=) c.2713C= (p.Leu905=) c.2686C= (p.Leu896=) | |
| 7 | g.150947708G>T | CA369853246 | KCNH2 | n.3696C>A c.2863C>A (p.Leu955Met) c.1843C>A (p.Leu615Met) c.2563C>A (p.Leu855Met) c.2693-17C>A (n.2693-17C>A) c.2713C>A (p.Leu905Met) c.2686C>A (p.Leu896Met) | gnomAD v4 |
| 7 | g.150947709G>A | CA458870977 | KCNH2 | n.3695C>T c.2862C>T (p.Arg954=) c.1842C>T (p.Arg614=) c.2562C>T (p.Arg854=) c.2693-18C>T (n.2693-18C>T) c.2712C>T (p.Arg904=) c.2685C>T (p.Arg895=) | gnomAD v4 |
| 7 | g.150947709G>C | CA458870978 | KCNH2 | n.3695C>G c.2862C>G (p.Arg954=) c.1842C>G (p.Arg614=) c.2562C>G (p.Arg854=) c.2693-18C>G (n.2693-18C>G) c.2712C>G (p.Arg904=) c.2685C>G (p.Arg895=) | gnomAD v4 |
| 7 | g.150947709G>T | CA458870979 | KCNH2 | n.3695C>A c.2862C>A (p.Arg954=) c.1842C>A (p.Arg614=) c.2562C>A (p.Arg854=) c.2693-18C>A (n.2693-18C>A) c.2712C>A (p.Arg904=) c.2685C>A (p.Arg895=) | gnomAD v4 |
| 7 | g.150947710C>A | CA369853247 | KCNH2 | n.3694G>T c.2861G>T (p.Arg954Leu) c.1841G>T (p.Arg614Leu) c.2561G>T (p.Arg854Leu) c.2693-19G>T (n.2693-19G>T) c.2711G>T (p.Arg904Leu) c.2684G>T (p.Arg895Leu) | dbSNP gnomAD v4 |
| 7 | g.150947710C= | CA1752430088 | KCNH2 | n.3694G= c.2861G= (p.Arg954=) c.1841G= (p.Arg614=) c.2561G= (p.Arg854=) c.2693-19G= (n.2693-19G=) c.2711G= (p.Arg904=) c.2684G= (p.Arg895=) | |
| 7 | g.150947710C>G | CA369853248 | KCNH2 | n.3694G>C c.2861G>C (p.Arg954Pro) c.1841G>C (p.Arg614Pro) c.2561G>C (p.Arg854Pro) c.2693-19G>C (n.2693-19G>C) c.2711G>C (p.Arg904Pro) c.2684G>C (p.Arg895Pro) | |
| 7 | g.150947710C>T | CA035126 | KCNH2 | n.3694G>A c.2861G>A (p.Arg954His) c.1841G>A (p.Arg614His) c.2561G>A (p.Arg854His) c.2693-19G>A (n.2693-19G>A) c.2711G>A (p.Arg904His) c.2684G>A (p.Arg895His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947710_150947711insTCC | CA2685602124 | KCNH2 | n.3694_3695insGAG c.2861_2862insGAG (p.Arg954_Leu955insSer) c.1841_1842insGAG (p.Arg614_Leu615insSer) c.2561_2562insGAG (p.Arg854_Leu855insSer) c.2693-19_2693-18insGAG (n.2693-19_2693-18insGAG) c.2711_2712insGAG (p.Arg904_Leu905insSer) c.2684_2685insGAG (p.Arg895_Leu896insSer) | gnomAD v4 |
| 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 |
| 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) | ClinVar 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 |
| 7 | g.150947726T>A | CA369853279 | KCNH2 | n.3678A>T c.2845A>T (p.Ser949Cys) c.1825A>T (p.Ser609Cys) c.2545A>T (p.Ser849Cys) c.2693-35A>T (n.2693-35A>T) c.2695A>T (p.Ser899Cys) c.2668A>T (p.Ser890Cys) | |
| 7 | g.150947726T>C | CA369853280 | KCNH2 | n.3678A>G c.2845A>G (p.Ser949Gly) c.1825A>G (p.Ser609Gly) c.2545A>G (p.Ser849Gly) c.2693-35A>G (n.2693-35A>G) c.2695A>G (p.Ser899Gly) c.2668A>G (p.Ser890Gly) | gnomAD v4 |
| 7 | g.150947726T>G | CA369853281 | KCNH2 | n.3678A>C c.2845A>C (p.Ser949Arg) c.1825A>C (p.Ser609Arg) c.2545A>C (p.Ser849Arg) c.2693-35A>C (n.2693-35A>C) c.2695A>C (p.Ser899Arg) c.2668A>C (p.Ser890Arg) | gnomAD v4 |
| 7 | g.150947727G>A | CA458871017 | KCNH2 | n.3677C>T c.2844C>T (p.Arg948=) c.1824C>T (p.Arg608=) c.2544C>T (p.Arg848=) c.2693-36C>T (n.2693-36C>T) c.2694C>T (p.Arg898=) c.2667C>T (p.Arg889=) | gnomAD v4 |
| 7 | g.150947727G>C | CA458871019 | KCNH2 | n.3677C>G c.2844C>G (p.Arg948=) c.1824C>G (p.Arg608=) c.2544C>G (p.Arg848=) c.2693-36C>G (n.2693-36C>G) c.2694C>G (p.Arg898=) c.2667C>G (p.Arg889=) | |
| 7 | g.150947727G>T | CA458871018 | KCNH2 | n.3677C>A c.2844C>A (p.Arg948=) c.1824C>A (p.Arg608=) c.2544C>A (p.Arg848=) c.2693-36C>A (n.2693-36C>A) c.2694C>A (p.Arg898=) c.2667C>A (p.Arg889=) | gnomAD v4 |
| 7 | g.150947728C>A | CA369853282 | KCNH2 | n.3676G>T c.2843G>T (p.Arg948Leu) c.1823G>T (p.Arg608Leu) c.2543G>T (p.Arg848Leu) c.2693-37G>T (n.2693-37G>T) c.2693G>T (p.Arg898Leu) c.2666G>T (p.Arg889Leu) | gnomAD v4 |
| 7 | g.150947728C= | CA1752430125 | KCNH2 | n.3676G= c.2843G= (p.Arg948=) c.1823G= (p.Arg608=) c.2543G= (p.Arg848=) c.2693-37G= (n.2693-37G=) c.2693G= (p.Arg898=) c.2666G= (p.Arg889=) | |
| 7 | g.150947728C>G | CA369853283 | KCNH2 | n.3676G>C c.2843G>C (p.Arg948Pro) c.1823G>C (p.Arg608Pro) c.2543G>C (p.Arg848Pro) c.2693-37G>C (n.2693-37G>C) c.2693G>C (p.Arg898Pro) c.2666G>C (p.Arg889Pro) | |
| 7 | g.150947728C>T | CA007504 | KCNH2 | n.3676G>A c.2843G>A (p.Arg948His) c.1823G>A (p.Arg608His) c.2543G>A (p.Arg848His) c.2693-37G>A (n.2693-37G>A) c.2693G>A (p.Arg898His) c.2666G>A (p.Arg889His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947729G>A | CA007496 | KCNH2 | n.3675C>T c.2842C>T (p.Arg948Cys) c.1822C>T (p.Arg608Cys) c.2542C>T (p.Arg848Cys) c.2693-38C>T (n.2693-38C>T) c.2692C>T (p.Arg898Cys) c.2665C>T (p.Arg889Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947729G>C | CA369853284 | KCNH2 | n.3675C>G c.2842C>G (p.Arg948Gly) c.1822C>G (p.Arg608Gly) c.2542C>G (p.Arg848Gly) c.2693-38C>G (n.2693-38C>G) c.2692C>G (p.Arg898Gly) c.2665C>G (p.Arg889Gly) | COSMIC COSMIC |
| 7 | g.150947729G= | CA1752430130 | KCNH2 | n.3675C= c.2842C= (p.Arg948=) c.1822C= (p.Arg608=) c.2542C= (p.Arg848=) c.2693-38C= (n.2693-38C=) c.2692C= (p.Arg898=) c.2665C= (p.Arg889=) | |
| 7 | g.150947729G>T | CA007486 | KCNH2 | n.3675C>A c.2842C>A (p.Arg948Ser) c.1822C>A (p.Arg608Ser) c.2542C>A (p.Arg848Ser) c.2693-38C>A (n.2693-38C>A) c.2692C>A (p.Arg898Ser) c.2665C>A (p.Arg889Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947730G>A | CA458871021 | KCNH2 | n.3674C>T c.2841C>T (p.Gly947=) c.1821C>T (p.Gly607=) c.2541C>T (p.Gly847=) c.2693-39C>T (n.2693-39C>T) c.2691C>T (p.Gly897=) c.2664C>T (p.Gly888=) | gnomAD v4 |
| 7 | g.150947730G>C | CA458871023 | KCNH2 | n.3674C>G c.2841C>G (p.Gly947=) c.1821C>G (p.Gly607=) c.2541C>G (p.Gly847=) c.2693-39C>G (n.2693-39C>G) c.2691C>G (p.Gly897=) c.2664C>G (p.Gly888=) | |
| 7 | g.150947730G>T | CA458871026 | KCNH2 | n.3674C>A c.2841C>A (p.Gly947=) c.1821C>A (p.Gly607=) c.2541C>A (p.Gly847=) c.2693-39C>A (n.2693-39C>A) c.2691C>A (p.Gly897=) c.2664C>A (p.Gly888=) | gnomAD v4 |
| 7 | g.150947731C>A | CA369853285 | KCNH2 | n.3673G>T c.2840G>T (p.Gly947Val) c.1820G>T (p.Gly607Val) c.2540G>T (p.Gly847Val) c.2693-40G>T (n.2693-40G>T) c.2690G>T (p.Gly897Val) c.2663G>T (p.Gly888Val) | gnomAD v4 |
| 7 | g.150947731C= | CA1752430138 | KCNH2 | n.3673G= c.2840G= (p.Gly947=) c.1820G= (p.Gly607=) c.2540G= (p.Gly847=) c.2693-40G= (n.2693-40G=) c.2690G= (p.Gly897=) c.2663G= (p.Gly888=) | |
| 7 | g.150947731C>G | CA369853287 | KCNH2 | n.3673G>C c.2840G>C (p.Gly947Ala) c.1820G>C (p.Gly607Ala) c.2540G>C (p.Gly847Ala) c.2693-40G>C (n.2693-40G>C) c.2690G>C (p.Gly897Ala) c.2663G>C (p.Gly888Ala) | |
| 7 | g.150947731C>T | CA369853286 | KCNH2 | n.3673G>A c.2840G>A (p.Gly947Asp) c.1820G>A (p.Gly607Asp) c.2540G>A (p.Gly847Asp) c.2693-40G>A (n.2693-40G>A) c.2690G>A (p.Gly897Asp) c.2663G>A (p.Gly888Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947732C>A | CA369853288 | KCNH2 | n.3672G>T c.2839G>T (p.Gly947Cys) c.1819G>T (p.Gly607Cys) c.2539G>T (p.Gly847Cys) c.2693-41G>T (n.2693-41G>T) c.2689G>T (p.Gly897Cys) c.2662G>T (p.Gly888Cys) | gnomAD v4 |
| 7 | g.150947732C>G | CA369853290 | KCNH2 | n.3672G>C c.2839G>C (p.Gly947Arg) c.1819G>C (p.Gly607Arg) c.2539G>C (p.Gly847Arg) c.2693-41G>C (n.2693-41G>C) c.2689G>C (p.Gly897Arg) c.2662G>C (p.Gly888Arg) | |
| 7 | g.150947732C>T | CA369853289 | KCNH2 | n.3672G>A c.2839G>A (p.Gly947Ser) c.1819G>A (p.Gly607Ser) c.2539G>A (p.Gly847Ser) c.2693-41G>A (n.2693-41G>A) c.2689G>A (p.Gly897Ser) c.2662G>A (p.Gly888Ser) | |
| 7 | g.150947733T>A | CA458871027 | KCNH2 | n.3671A>T c.2838A>T (p.Pro946=) c.1818A>T (p.Pro606=) c.2538A>T (p.Pro846=) c.2693-42A>T (n.2693-42A>T) c.2688A>T (p.Pro896=) c.2661A>T (p.Pro887=) | |
| 7 | g.150947733T>C | CA458871028 | KCNH2 | n.3671A>G c.2838A>G (p.Pro946=) c.1818A>G (p.Pro606=) c.2538A>G (p.Pro846=) c.2693-42A>G (n.2693-42A>G) c.2688A>G (p.Pro896=) c.2661A>G (p.Pro887=) | gnomAD v4 |
| 7 | g.150947733T>G | CA458871029 | KCNH2 | n.3671A>C c.2838A>C (p.Pro946=) c.1818A>C (p.Pro606=) c.2538A>C (p.Pro846=) c.2693-42A>C (n.2693-42A>C) c.2688A>C (p.Pro896=) c.2661A>C (p.Pro887=) | gnomAD v4 |
| 7 | g.150947734G>A | CA369853291 | KCNH2 | n.3670C>T c.2837C>T (p.Pro946Leu) c.1817C>T (p.Pro606Leu) c.2537C>T (p.Pro846Leu) c.2693-43C>T (n.2693-43C>T) c.2687C>T (p.Pro896Leu) c.2660C>T (p.Pro887Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947734G>C | CA369853292 | KCNH2 | n.3670C>G c.2837C>G (p.Pro946Arg) c.1817C>G (p.Pro606Arg) c.2537C>G (p.Pro846Arg) c.2693-43C>G (n.2693-43C>G) c.2687C>G (p.Pro896Arg) c.2660C>G (p.Pro887Arg) | |
| 7 | g.150947734G= | CA1752430139 | KCNH2 | n.3670C= c.2837C= (p.Pro946=) c.1817C= (p.Pro606=) c.2537C= (p.Pro846=) c.2693-43C= (n.2693-43C=) c.2687C= (p.Pro896=) c.2660C= (p.Pro887=) | |
| 7 | g.150947734G>T | CA369853293 | KCNH2 | n.3670C>A c.2837C>A (p.Pro946Gln) c.1817C>A (p.Pro606Gln) c.2537C>A (p.Pro846Gln) c.2693-43C>A (n.2693-43C>A) c.2687C>A (p.Pro896Gln) c.2660C>A (p.Pro887Gln) | gnomAD v4 |
| 7 | g.150947735G>A | CA369853294 | KCNH2 | n.3669C>T c.2836C>T (p.Pro946Ser) c.1816C>T (p.Pro606Ser) c.2536C>T (p.Pro846Ser) c.2693-44C>T (n.2693-44C>T) c.2686C>T (p.Pro896Ser) c.2659C>T (p.Pro887Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947735G>C | CA369853295 | KCNH2 | n.3669C>G c.2836C>G (p.Pro946Ala) c.1816C>G (p.Pro606Ala) c.2536C>G (p.Pro846Ala) c.2693-44C>G (n.2693-44C>G) c.2686C>G (p.Pro896Ala) c.2659C>G (p.Pro887Ala) | |
| 7 | g.150947735G= | CA1752430140 | KCNH2 | n.3669C= c.2836C= (p.Pro946=) c.1816C= (p.Pro606=) c.2536C= (p.Pro846=) c.2693-44C= (n.2693-44C=) c.2686C= (p.Pro896=) c.2659C= (p.Pro887=) | |
| 7 | g.150947735G>T | CA369853296 | KCNH2 | n.3669C>A c.2836C>A (p.Pro946Thr) c.1816C>A (p.Pro606Thr) c.2536C>A (p.Pro846Thr) c.2693-44C>A (n.2693-44C>A) c.2686C>A (p.Pro896Thr) c.2659C>A (p.Pro887Thr) | gnomAD v4 |
| 7 | g.150947736G>A | CA458871032 | KCNH2 | n.3668C>T c.2835C>T (p.Gly945=) c.1815C>T (p.Gly605=) c.2535C>T (p.Gly845=) c.2693-45C>T (n.2693-45C>T) c.2685C>T (p.Gly895=) c.2658C>T (p.Gly886=) | gnomAD v4 |
| 7 | g.150947736G>C | CA034993 | KCNH2 | n.3668C>G c.2835C>G (p.Gly945=) c.1815C>G (p.Gly605=) c.2535C>G (p.Gly845=) c.2693-45C>G (n.2693-45C>G) c.2685C>G (p.Gly895=) c.2658C>G (p.Gly886=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947736G= | CA1752430141 | KCNH2 | n.3668C= c.2835C= (p.Gly945=) c.1815C= (p.Gly605=) c.2535C= (p.Gly845=) c.2693-45C= (n.2693-45C=) c.2685C= (p.Gly895=) c.2658C= (p.Gly886=) | |
| 7 | g.150947736G>T | CA458871031 | KCNH2 | n.3668C>A c.2835C>A (p.Gly945=) c.1815C>A (p.Gly605=) c.2535C>A (p.Gly845=) c.2693-45C>A (n.2693-45C>A) c.2685C>A (p.Gly895=) c.2658C>A (p.Gly886=) | gnomAD v4 |
| 7 | g.150947737C>A | CA369853297 | KCNH2 | n.3667G>T c.2834G>T (p.Gly945Val) c.1814G>T (p.Gly605Val) c.2534G>T (p.Gly845Val) c.2693-46G>T (n.2693-46G>T) c.2684G>T (p.Gly895Val) c.2657G>T (p.Gly886Val) | gnomAD v4 |
| 7 | g.150947737C= | CA1752430144 | KCNH2 | n.3667G= c.2834G= (p.Gly945=) c.1814G= (p.Gly605=) c.2534G= (p.Gly845=) c.2693-46G= (n.2693-46G=) c.2684G= (p.Gly895=) c.2657G= (p.Gly886=) | |
| 7 | g.150947737C>G | CA369853298 | KCNH2 | n.3667G>C c.2834G>C (p.Gly945Ala) c.1814G>C (p.Gly605Ala) c.2534G>C (p.Gly845Ala) c.2693-46G>C (n.2693-46G>C) c.2684G>C (p.Gly895Ala) c.2657G>C (p.Gly886Ala) | |
| 7 | g.150947737C>T | CA034981 | KCNH2 | n.3667G>A c.2834G>A (p.Gly945Asp) c.1814G>A (p.Gly605Asp) c.2534G>A (p.Gly845Asp) c.2693-46G>A (n.2693-46G>A) c.2684G>A (p.Gly895Asp) c.2657G>A (p.Gly886Asp) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.150947738_150947739dup | CA2685602127 | KCNH2 | n.3666_3667dup c.2833_2834dup (p.Pro946AlafsTer29) c.1813_1814dup (p.Pro606AlafsTer29) c.2533_2534dup (p.Pro846AlafsTer29) c.2693-47_2693-46dup (n.2693-47_2693-46dup) c.2683_2684dup (p.Pro896AlafsTer29) c.2656_2657dup (p.Pro887AlafsTer29) | gnomAD v4 |
| 7 | g.150947739del | CA2685602126 | KCNH2 | n.3667del c.2834del (p.Gly945AlafsTer29) c.1814del (p.Gly605AlafsTer29) c.2534del (p.Gly845AlafsTer29) c.2693-46del (n.2693-46del) c.2684del (p.Gly895AlafsTer29) c.2657del (p.Gly886AlafsTer29) | gnomAD v4 |
| 7 | g.150947738C>A | CA369853299 | KCNH2 | n.3666G>T c.2833G>T (p.Gly945Cys) c.1813G>T (p.Gly605Cys) c.2533G>T (p.Gly845Cys) c.2693-47G>T (n.2693-47G>T) c.2683G>T (p.Gly895Cys) c.2656G>T (p.Gly886Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947738C= | CA1752430145 | KCNH2 | n.3666G= c.2833G= (p.Gly945=) c.1813G= (p.Gly605=) c.2533G= (p.Gly845=) c.2693-47G= (n.2693-47G=) c.2683G= (p.Gly895=) c.2656G= (p.Gly886=) | |
| 7 | g.150947738C>G | CA369853300 | KCNH2 | n.3666G>C c.2833G>C (p.Gly945Arg) c.1813G>C (p.Gly605Arg) c.2533G>C (p.Gly845Arg) c.2693-47G>C (n.2693-47G>C) c.2683G>C (p.Gly895Arg) c.2656G>C (p.Gly886Arg) | gnomAD v4 |
| 7 | g.150947738C>T | CA369853301 | KCNH2 | n.3666G>A c.2833G>A (p.Gly945Ser) c.1813G>A (p.Gly605Ser) c.2533G>A (p.Gly845Ser) c.2693-47G>A (n.2693-47G>A) c.2683G>A (p.Gly895Ser) c.2656G>A (p.Gly886Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947739C>A | CA369853302 | KCNH2 | n.3665G>T c.2832G>T (p.Glu944Asp) c.1812G>T (p.Glu604Asp) c.2532G>T (p.Glu844Asp) c.2693-48G>T (n.2693-48G>T) c.2682G>T (p.Glu894Asp) c.2655G>T (p.Glu885Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947739C= | CA1752430146 | KCNH2 | n.3665G= c.2832G= (p.Glu944=) c.1812G= (p.Glu604=) c.2532G= (p.Glu844=) c.2693-48G= (n.2693-48G=) c.2682G= (p.Glu894=) c.2655G= (p.Glu885=) | |
| 7 | g.150947739C>G | CA369853303 | KCNH2 | n.3665G>C c.2832G>C (p.Glu944Asp) c.1812G>C (p.Glu604Asp) c.2532G>C (p.Glu844Asp) c.2693-48G>C (n.2693-48G>C) c.2682G>C (p.Glu894Asp) c.2655G>C (p.Glu885Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947739C>T | CA458871040 | KCNH2 | n.3665G>A c.2832G>A (p.Glu944=) c.1812G>A (p.Glu604=) c.2532G>A (p.Glu844=) c.2693-48G>A (n.2693-48G>A) c.2682G>A (p.Glu894=) c.2655G>A (p.Glu885=) | gnomAD v4 |
| 7 | g.150947740T>A | CA369853304 | KCNH2 | n.3664A>T c.2831A>T (p.Glu944Val) c.1811A>T (p.Glu604Val) c.2531A>T (p.Glu844Val) c.2693-49A>T (n.2693-49A>T) c.2681A>T (p.Glu894Val) c.2654A>T (p.Glu885Val) | |
| 7 | g.150947740T>C | CA369853305 | KCNH2 | n.3664A>G c.2831A>G (p.Glu944Gly) c.1811A>G (p.Glu604Gly) c.2531A>G (p.Glu844Gly) c.2693-49A>G (n.2693-49A>G) c.2681A>G (p.Glu894Gly) c.2654A>G (p.Glu885Gly) | |
| 7 | g.150947740T>G | CA369853306 | KCNH2 | n.3664A>C c.2831A>C (p.Glu944Ala) c.1811A>C (p.Glu604Ala) c.2531A>C (p.Glu844Ala) c.2693-49A>C (n.2693-49A>C) c.2681A>C (p.Glu894Ala) c.2654A>C (p.Glu885Ala) | |
| 7 | g.150947741C>A | CA369853307 | KCNH2 | n.3663G>T c.2830G>T (p.Glu944Ter) c.1810G>T (p.Glu604Ter) c.2530G>T (p.Glu844Ter) c.2693-50G>T (n.2693-50G>T) c.2680G>T (p.Glu894Ter) c.2653G>T (p.Glu885Ter) | gnomAD v4 |
| 7 | g.150947741C= | CA1752430151 | KCNH2 | n.3663G= c.2830G= (p.Glu944=) c.1810G= (p.Glu604=) c.2530G= (p.Glu844=) c.2693-50G= (n.2693-50G=) c.2680G= (p.Glu894=) c.2653G= (p.Glu885=) | |
| 7 | g.150947741C>G | CA369853308 | KCNH2 | n.3663G>C c.2830G>C (p.Glu944Gln) c.1810G>C (p.Glu604Gln) c.2530G>C (p.Glu844Gln) c.2693-50G>C (n.2693-50G>C) c.2680G>C (p.Glu894Gln) c.2653G>C (p.Glu885Gln) | |
| 7 | g.150947741C>T | CA369853309 | KCNH2 | n.3663G>A c.2830G>A (p.Glu944Lys) c.1810G>A (p.Glu604Lys) c.2530G>A (p.Glu844Lys) c.2693-50G>A (n.2693-50G>A) c.2680G>A (p.Glu894Lys) c.2653G>A (p.Glu885Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947742A= | CA1752430154 | KCNH2 | n.3662T= c.2829T= (p.Asp943=) c.1809T= (p.Asp603=) c.2529T= (p.Asp843=) c.2693-51T= (n.2693-51T=) c.2679T= (p.Asp893=) c.2652T= (p.Asp884=) | |
| 7 | g.150947742A>C | CA369853310 | KCNH2 | n.3662T>G c.2829T>G (p.Asp943Glu) c.1809T>G (p.Asp603Glu) c.2529T>G (p.Asp843Glu) c.2693-51T>G (n.2693-51T>G) c.2679T>G (p.Asp893Glu) c.2652T>G (p.Asp884Glu) | |
| 7 | g.150947742A>G | CA458871043 | KCNH2 | n.3662T>C c.2829T>C (p.Asp943=) c.1809T>C (p.Asp603=) c.2529T>C (p.Asp843=) c.2693-51T>C (n.2693-51T>C) c.2679T>C (p.Asp893=) c.2652T>C (p.Asp884=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947742A>T | CA369853311 | KCNH2 | n.3662T>A c.2829T>A (p.Asp943Glu) c.1809T>A (p.Asp603Glu) c.2529T>A (p.Asp843Glu) c.2693-51T>A (n.2693-51T>A) c.2679T>A (p.Asp893Glu) c.2652T>A (p.Asp884Glu) | gnomAD v4 |
| 7 | g.150947743T>A | CA369853312 | KCNH2 | n.3661A>T c.2828A>T (p.Asp943Val) c.1808A>T (p.Asp603Val) c.2528A>T (p.Asp843Val) c.2693-52A>T (n.2693-52A>T) c.2678A>T (p.Asp893Val) c.2651A>T (p.Asp884Val) | |
| 7 | g.150947743T>C | CA369853313 | KCNH2 | n.3661A>G c.2828A>G (p.Asp943Gly) c.1808A>G (p.Asp603Gly) c.2528A>G (p.Asp843Gly) c.2693-52A>G (n.2693-52A>G) c.2678A>G (p.Asp893Gly) c.2651A>G (p.Asp884Gly) | |
| 7 | g.150947743T>G | CA369853314 | KCNH2 | n.3661A>C c.2828A>C (p.Asp943Ala) c.1808A>C (p.Asp603Ala) c.2528A>C (p.Asp843Ala) c.2693-52A>C (n.2693-52A>C) c.2678A>C (p.Asp893Ala) c.2651A>C (p.Asp884Ala) | |
| 7 | g.150947744C>A | CA369853316 | KCNH2 | n.3660G>T c.2827G>T (p.Asp943Tyr) c.1807G>T (p.Asp603Tyr) c.2527G>T (p.Asp843Tyr) c.2693-53G>T (n.2693-53G>T) c.2677G>T (p.Asp893Tyr) c.2650G>T (p.Asp884Tyr) | gnomAD v4 |
| 7 | g.150947744C= | CA1752430157 | KCNH2 | n.3660G= c.2827G= (p.Asp943=) c.1807G= (p.Asp603=) c.2527G= (p.Asp843=) c.2693-53G= (n.2693-53G=) c.2677G= (p.Asp893=) c.2650G= (p.Asp884=) | |
| 7 | g.150947744C>G | CA369853315 | KCNH2 | n.3660G>C c.2827G>C (p.Asp943His) c.1807G>C (p.Asp603His) c.2527G>C (p.Asp843His) c.2693-53G>C (n.2693-53G>C) c.2677G>C (p.Asp893His) c.2650G>C (p.Asp884His) | |
| 7 | g.150947744C>T | CA169072562 | KCNH2 | n.3660G>A c.2827G>A (p.Asp943Asn) c.1807G>A (p.Asp603Asn) c.2527G>A (p.Asp843Asn) c.2693-53G>A (n.2693-53G>A) c.2677G>A (p.Asp893Asn) c.2650G>A (p.Asp884Asn) | dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150947745C>A | CA369853318 | KCNH2 | n.3659G>T c.2826G>T (p.Glu942Asp) c.1806G>T (p.Glu602Asp) c.2526G>T (p.Glu842Asp) c.2693-54G>T (n.2693-54G>T) c.2676G>T (p.Glu892Asp) c.2649G>T (p.Glu883Asp) | dbSNP gnomAD v4 |
| 7 | g.150947745C= | CA1752430159 | KCNH2 | n.3659G= c.2826G= (p.Glu942=) c.1806G= (p.Glu602=) c.2526G= (p.Glu842=) c.2693-54G= (n.2693-54G=) c.2676G= (p.Glu892=) c.2649G= (p.Glu883=) | |
| 7 | g.150947745C>G | CA369853317 | KCNH2 | n.3659G>C c.2826G>C (p.Glu942Asp) c.1806G>C (p.Glu602Asp) c.2526G>C (p.Glu842Asp) c.2693-54G>C (n.2693-54G>C) c.2676G>C (p.Glu892Asp) c.2649G>C (p.Glu883Asp) | |
| 7 | g.150947745C>T | CA458871046 | KCNH2 | n.3659G>A c.2826G>A (p.Glu942=) c.1806G>A (p.Glu602=) c.2526G>A (p.Glu842=) c.2693-54G>A (n.2693-54G>A) c.2676G>A (p.Glu892=) c.2649G>A (p.Glu883=) | |
| 7 | g.150947746T>A | CA369853319 | KCNH2 | n.3658A>T c.2825A>T (p.Glu942Val) c.1805A>T (p.Glu602Val) c.2525A>T (p.Glu842Val) c.2693-55A>T (n.2693-55A>T) c.2675A>T (p.Glu892Val) c.2648A>T (p.Glu883Val) | gnomAD v4 |
| 7 | g.150947746T>C | CA369853320 | KCNH2 | n.3658A>G c.2825A>G (p.Glu942Gly) c.1805A>G (p.Glu602Gly) c.2525A>G (p.Glu842Gly) c.2693-55A>G (n.2693-55A>G) c.2675A>G (p.Glu892Gly) c.2648A>G (p.Glu883Gly) | |
| 7 | g.150947746T>G | CA369853321 | KCNH2 | n.3658A>C c.2825A>C (p.Glu942Ala) c.1805A>C (p.Glu602Ala) c.2525A>C (p.Glu842Ala) c.2693-55A>C (n.2693-55A>C) c.2675A>C (p.Glu892Ala) c.2648A>C (p.Glu883Ala) | |
| 7 | g.150947747C>A | CA369853322 | KCNH2 | n.3657G>T c.2824G>T (p.Glu942Ter) c.1804G>T (p.Glu602Ter) c.2524G>T (p.Glu842Ter) c.2693-56G>T (n.2693-56G>T) c.2674G>T (p.Glu892Ter) c.2647G>T (p.Glu883Ter) | gnomAD v4 |
| 7 | g.150947747C>G | CA369853323 | KCNH2 | n.3657G>C c.2824G>C (p.Glu942Gln) c.1804G>C (p.Glu602Gln) c.2524G>C (p.Glu842Gln) c.2693-56G>C (n.2693-56G>C) c.2674G>C (p.Glu892Gln) c.2647G>C (p.Glu883Gln) | |
| 7 | g.150947747C>T | CA369853324 | KCNH2 | n.3657G>A c.2824G>A (p.Glu942Lys) c.1804G>A (p.Glu602Lys) c.2524G>A (p.Glu842Lys) c.2693-56G>A (n.2693-56G>A) c.2674G>A (p.Glu892Lys) c.2647G>A (p.Glu883Lys) | gnomAD v4 |
| 7 | g.150947748A= | CA1752430162 | KCNH2 | n.3656T= c.2823T= (p.Ser941=) c.1803T= (p.Ser601=) c.2523T= (p.Ser841=) c.2693-57T= (n.2693-57T=) c.2673T= (p.Ser891=) c.2646T= (p.Ser882=) | |
| 7 | g.150947748A>C | CA369853325 | KCNH2 | n.3656T>G c.2823T>G (p.Ser941Arg) c.1803T>G (p.Ser601Arg) c.2523T>G (p.Ser841Arg) c.2693-57T>G (n.2693-57T>G) c.2673T>G (p.Ser891Arg) c.2646T>G (p.Ser882Arg) | |
| 7 | g.150947748A>G | CA458871051 | KCNH2 | n.3656T>C c.2823T>C (p.Ser941=) c.1803T>C (p.Ser601=) c.2523T>C (p.Ser841=) c.2693-57T>C (n.2693-57T>C) c.2673T>C (p.Ser891=) c.2646T>C (p.Ser882=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947748A>T | CA369853326 | KCNH2 | n.3656T>A c.2823T>A (p.Ser941Arg) c.1803T>A (p.Ser601Arg) c.2523T>A (p.Ser841Arg) c.2693-57T>A (n.2693-57T>A) c.2673T>A (p.Ser891Arg) c.2646T>A (p.Ser882Arg) | |
| 7 | g.150947749C>A | CA369853327 | KCNH2 | n.3655G>T c.2822G>T (p.Ser941Ile) c.1802G>T (p.Ser601Ile) c.2522G>T (p.Ser841Ile) c.2693-58G>T (n.2693-58G>T) c.2672G>T (p.Ser891Ile) c.2645G>T (p.Ser882Ile) | |
| 7 | g.150947749C>G | CA369853328 | KCNH2 | n.3655G>C c.2822G>C (p.Ser941Thr) c.1802G>C (p.Ser601Thr) c.2522G>C (p.Ser841Thr) c.2693-58G>C (n.2693-58G>C) c.2672G>C (p.Ser891Thr) c.2645G>C (p.Ser882Thr) | |
| 7 | g.150947749C>T | CA369853329 | KCNH2 | n.3655G>A c.2822G>A (p.Ser941Asn) c.1802G>A (p.Ser601Asn) c.2522G>A (p.Ser841Asn) c.2693-58G>A (n.2693-58G>A) c.2672G>A (p.Ser891Asn) c.2645G>A (p.Ser882Asn) | |
| 7 | g.150947750T>A | CA369853332 | KCNH2 | n.3654A>T c.2821A>T (p.Ser941Cys) c.1801A>T (p.Ser601Cys) c.2521A>T (p.Ser841Cys) c.2693-59A>T (n.2693-59A>T) c.2671A>T (p.Ser891Cys) c.2644A>T (p.Ser882Cys) | |
| 7 | g.150947750T>C | CA369853331 | KCNH2 | n.3654A>G c.2821A>G (p.Ser941Gly) c.1801A>G (p.Ser601Gly) c.2521A>G (p.Ser841Gly) c.2693-59A>G (n.2693-59A>G) c.2671A>G (p.Ser891Gly) c.2644A>G (p.Ser882Gly) | |
| 7 | g.150947750T>G | CA369853330 | KCNH2 | n.3654A>C c.2821A>C (p.Ser941Arg) c.1801A>C (p.Ser601Arg) c.2521A>C (p.Ser841Arg) c.2693-59A>C (n.2693-59A>C) c.2671A>C (p.Ser891Arg) c.2644A>C (p.Ser882Arg) | |
| 7 | g.150947751G>A | CA458871057 | KCNH2 | n.3653C>T c.2820C>T (p.Ser940=) c.1800C>T (p.Ser600=) c.2520C>T (p.Ser840=) c.2693-60C>T (n.2693-60C>T) c.2670C>T (p.Ser890=) c.2643C>T (p.Ser881=) | gnomAD v4 |
| 7 | g.150947751G>C | CA369853333 | KCNH2 | n.3653C>G c.2820C>G (p.Ser940Arg) c.1800C>G (p.Ser600Arg) c.2520C>G (p.Ser840Arg) c.2693-60C>G (n.2693-60C>G) c.2670C>G (p.Ser890Arg) c.2643C>G (p.Ser881Arg) | |
| 7 | g.150947751G>T | CA369853334 | KCNH2 | n.3653C>A c.2820C>A (p.Ser940Arg) c.1800C>A (p.Ser600Arg) c.2520C>A (p.Ser840Arg) c.2693-60C>A (n.2693-60C>A) c.2670C>A (p.Ser890Arg) c.2643C>A (p.Ser881Arg) | gnomAD v4 |
| 7 | g.150947752C>A | CA369853335 | KCNH2 | n.3652G>T c.2819G>T (p.Ser940Ile) c.1799G>T (p.Ser600Ile) c.2519G>T (p.Ser840Ile) c.2693-61G>T (n.2693-61G>T) c.2669G>T (p.Ser890Ile) c.2642G>T (p.Ser881Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947752C= | CA1752430169 | KCNH2 | n.3652G= c.2819G= (p.Ser940=) c.1799G= (p.Ser600=) c.2519G= (p.Ser840=) c.2693-61G= (n.2693-61G=) c.2669G= (p.Ser890=) c.2642G= (p.Ser881=) | |
| 7 | g.150947752C>G | CA369853336 | KCNH2 | n.3652G>C c.2819G>C (p.Ser940Thr) c.1799G>C (p.Ser600Thr) c.2519G>C (p.Ser840Thr) c.2693-61G>C (n.2693-61G>C) c.2669G>C (p.Ser890Thr) c.2642G>C (p.Ser881Thr) | |
| 7 | g.150947752C>T | CA369853337 | KCNH2 | n.3652G>A c.2819G>A (p.Ser940Asn) c.1799G>A (p.Ser600Asn) c.2519G>A (p.Ser840Asn) c.2693-61G>A (n.2693-61G>A) c.2669G>A (p.Ser890Asn) c.2642G>A (p.Ser881Asn) | |
| 7 | g.150947753T>A | CA369853338 | KCNH2 | n.3651A>T c.2818A>T (p.Ser940Cys) c.1798A>T (p.Ser600Cys) c.2518A>T (p.Ser840Cys) c.2693-62A>T (n.2693-62A>T) c.2668A>T (p.Ser890Cys) c.2641A>T (p.Ser881Cys) | |
| 7 | g.150947753T>C | CA369853339 | KCNH2 | n.3651A>G c.2818A>G (p.Ser940Gly) c.1798A>G (p.Ser600Gly) c.2518A>G (p.Ser840Gly) c.2693-62A>G (n.2693-62A>G) c.2668A>G (p.Ser890Gly) c.2641A>G (p.Ser881Gly) | gnomAD v4 |
| 7 | g.150947753T>G | CA369853340 | KCNH2 | n.3651A>C c.2818A>C (p.Ser940Arg) c.1798A>C (p.Ser600Arg) c.2518A>C (p.Ser840Arg) c.2693-62A>C (n.2693-62A>C) c.2668A>C (p.Ser890Arg) c.2641A>C (p.Ser881Arg) | |
| 7 | g.150947754C>A | CA369853341 | KCNH2 | n.3650G>T c.2817G>T (p.Glu939Asp) c.1797G>T (p.Glu599Asp) c.2517G>T (p.Glu839Asp) c.2693-63G>T (n.2693-63G>T) c.2667G>T (p.Glu889Asp) c.2640G>T (p.Glu880Asp) | |
| 7 | g.150947754C>G | CA369853342 | KCNH2 | n.3650G>C c.2817G>C (p.Glu939Asp) c.1797G>C (p.Glu599Asp) c.2517G>C (p.Glu839Asp) c.2693-63G>C (n.2693-63G>C) c.2667G>C (p.Glu889Asp) c.2640G>C (p.Glu880Asp) | gnomAD v4 |
| 7 | g.150947754C>T | CA458871063 | KCNH2 | n.3650G>A c.2817G>A (p.Glu939=) c.1797G>A (p.Glu599=) c.2517G>A (p.Glu839=) c.2693-63G>A (n.2693-63G>A) c.2667G>A (p.Glu889=) c.2640G>A (p.Glu880=) | |
| 7 | g.150947755T>A | CA369853343 | KCNH2 | n.3649A>T c.2816A>T (p.Glu939Val) c.1796A>T (p.Glu599Val) c.2516A>T (p.Glu839Val) c.2693-64A>T (n.2693-64A>T) c.2666A>T (p.Glu889Val) c.2639A>T (p.Glu880Val) | |
| 7 | g.150947755T>C | CA369853344 | KCNH2 | n.3649A>G c.2816A>G (p.Glu939Gly) c.1796A>G (p.Glu599Gly) c.2516A>G (p.Glu839Gly) c.2693-64A>G (n.2693-64A>G) c.2666A>G (p.Glu889Gly) c.2639A>G (p.Glu880Gly) | |
| 7 | g.150947755T>G | CA369853345 | KCNH2 | n.3649A>C c.2816A>C (p.Glu939Ala) c.1796A>C (p.Glu599Ala) c.2516A>C (p.Glu839Ala) c.2693-64A>C (n.2693-64A>C) c.2666A>C (p.Glu889Ala) c.2639A>C (p.Glu880Ala) | |
| 7 | g.150947756C>A | CA369853347 | KCNH2 | n.3648G>T c.2815G>T (p.Glu939Ter) c.1795G>T (p.Glu599Ter) c.2515G>T (p.Glu839Ter) c.2693-65G>T (n.2693-65G>T) c.2665G>T (p.Glu889Ter) c.2638G>T (p.Glu880Ter) | |
| 7 | g.150947756C>G | CA369853348 | KCNH2 | n.3648G>C c.2815G>C (p.Glu939Gln) c.1795G>C (p.Glu599Gln) c.2515G>C (p.Glu839Gln) c.2693-65G>C (n.2693-65G>C) c.2665G>C (p.Glu889Gln) c.2638G>C (p.Glu880Gln) | |
| 7 | g.150947756C>T | CA369853346 | KCNH2 | n.3648G>A c.2815G>A (p.Glu939Lys) c.1795G>A (p.Glu599Lys) c.2515G>A (p.Glu839Lys) c.2693-65G>A (n.2693-65G>A) c.2665G>A (p.Glu889Lys) c.2638G>A (p.Glu880Lys) | |
| 7 | g.150947757A= | CA1752430172 | KCNH2 | n.3647T= c.2814T= (p.Pro938=) c.1794T= (p.Pro598=) c.2514T= (p.Pro838=) c.2693-66T= (n.2693-66T=) c.2664T= (p.Pro888=) c.2637T= (p.Pro879=) | |
| 7 | g.150947757A>C | CA458871072 | KCNH2 | n.3647T>G c.2814T>G (p.Pro938=) c.1794T>G (p.Pro598=) c.2514T>G (p.Pro838=) c.2693-66T>G (n.2693-66T>G) c.2664T>G (p.Pro888=) c.2637T>G (p.Pro879=) | |
| 7 | g.150947757A>G | CA458871076 | KCNH2 | n.3647T>C c.2814T>C (p.Pro938=) c.1794T>C (p.Pro598=) c.2514T>C (p.Pro838=) c.2693-66T>C (n.2693-66T>C) c.2664T>C (p.Pro888=) c.2637T>C (p.Pro879=) | dbSNP gnomAD v4 |
| 7 | g.150947757A>T | CA458871078 | KCNH2 | n.3647T>A c.2814T>A (p.Pro938=) c.1794T>A (p.Pro598=) c.2514T>A (p.Pro838=) c.2693-66T>A (n.2693-66T>A) c.2664T>A (p.Pro888=) c.2637T>A (p.Pro879=) | |
| 7 | g.150947758G>A | CA369853349 | KCNH2 | n.3646C>T c.2813C>T (p.Pro938Leu) c.1793C>T (p.Pro598Leu) c.2513C>T (p.Pro838Leu) c.2693-67C>T (n.2693-67C>T) c.2663C>T (p.Pro888Leu) c.2636C>T (p.Pro879Leu) | |
| 7 | g.150947758G>C | CA369853351 | KCNH2 | n.3646C>G c.2813C>G (p.Pro938Arg) c.1793C>G (p.Pro598Arg) c.2513C>G (p.Pro838Arg) c.2693-67C>G (n.2693-67C>G) c.2663C>G (p.Pro888Arg) c.2636C>G (p.Pro879Arg) | |
| 7 | g.150947758G>T | CA369853350 | KCNH2 | n.3646C>A c.2813C>A (p.Pro938His) c.1793C>A (p.Pro598His) c.2513C>A (p.Pro838His) c.2693-67C>A (n.2693-67C>A) c.2663C>A (p.Pro888His) c.2636C>A (p.Pro879His) | gnomAD v4 |
| 7 | g.150947759G>A | CA369853352 | KCNH2 | n.3645C>T c.2812C>T (p.Pro938Ser) c.1792C>T (p.Pro598Ser) c.2512C>T (p.Pro838Ser) c.2693-68C>T (n.2693-68C>T) c.2662C>T (p.Pro888Ser) c.2635C>T (p.Pro879Ser) | |
| 7 | g.150947759G>C | CA369853353 | KCNH2 | n.3645C>G c.2812C>G (p.Pro938Ala) c.1792C>G (p.Pro598Ala) c.2512C>G (p.Pro838Ala) c.2693-68C>G (n.2693-68C>G) c.2662C>G (p.Pro888Ala) c.2635C>G (p.Pro879Ala) | |
| 7 | g.150947759G= | CA1752430173 | KCNH2 | n.3645C= c.2812C= (p.Pro938=) c.1792C= (p.Pro598=) c.2512C= (p.Pro838=) c.2693-68C= (n.2693-68C=) c.2662C= (p.Pro888=) c.2635C= (p.Pro879=) | |
| 7 | g.150947759G>T | CA034931 | KCNH2 | n.3645C>A c.2812C>A (p.Pro938Thr) c.1792C>A (p.Pro598Thr) c.2512C>A (p.Pro838Thr) c.2693-68C>A (n.2693-68C>A) c.2662C>A (p.Pro888Thr) c.2635C>A (p.Pro879Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947760G>A | CA458871081 | KCNH2 | n.3644C>T c.2811C>T (p.Ser937=) c.1791C>T (p.Ser597=) c.2511C>T (p.Ser837=) c.2693-69C>T (n.2693-69C>T) c.2661C>T (p.Ser887=) c.2634C>T (p.Ser878=) | ClinVar gnomAD v4 |
| 7 | g.150947760G>C | CA369853354 | KCNH2 | n.3644C>G c.2811C>G (p.Ser937Arg) c.1791C>G (p.Ser597Arg) c.2511C>G (p.Ser837Arg) c.2693-69C>G (n.2693-69C>G) c.2661C>G (p.Ser887Arg) c.2634C>G (p.Ser878Arg) | |
| 7 | g.150947760G>T | CA369853355 | KCNH2 | n.3644C>A c.2811C>A (p.Ser937Arg) c.1791C>A (p.Ser597Arg) c.2511C>A (p.Ser837Arg) c.2693-69C>A (n.2693-69C>A) c.2661C>A (p.Ser887Arg) c.2634C>A (p.Ser878Arg) | gnomAD v4 |
| 7 | g.150947761C>A | CA369853356 | KCNH2 | n.3643G>T c.2810G>T (p.Ser937Ile) c.1790G>T (p.Ser597Ile) c.2510G>T (p.Ser837Ile) c.2693-70G>T (n.2693-70G>T) c.2660G>T (p.Ser887Ile) c.2633G>T (p.Ser878Ile) | gnomAD v4 |
| 7 | g.150947761C= | CA1752430182 | KCNH2 | n.3643G= c.2810G= (p.Ser937=) c.1790G= (p.Ser597=) c.2510G= (p.Ser837=) c.2693-70G= (n.2693-70G=) c.2660G= (p.Ser887=) c.2633G= (p.Ser878=) | |
| 7 | g.150947761C>G | CA369853357 | KCNH2 | n.3643G>C c.2810G>C (p.Ser937Thr) c.1790G>C (p.Ser597Thr) c.2510G>C (p.Ser837Thr) c.2693-70G>C (n.2693-70G>C) c.2660G>C (p.Ser887Thr) c.2633G>C (p.Ser878Thr) | |
| 7 | g.150947761C>T | CA007468 | KCNH2 | n.3643G>A c.2810G>A (p.Ser937Asn) c.1790G>A (p.Ser597Asn) c.2510G>A (p.Ser837Asn) c.2693-70G>A (n.2693-70G>A) c.2660G>A (p.Ser887Asn) c.2633G>A (p.Ser878Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947762T>A | CA369853358 | KCNH2 | n.3642A>T c.2809A>T (p.Ser937Cys) c.1789A>T (p.Ser597Cys) c.2509A>T (p.Ser837Cys) c.2693-71A>T (n.2693-71A>T) c.2659A>T (p.Ser887Cys) c.2632A>T (p.Ser878Cys) | |
| 7 | g.150947762T>C | CA369853359 | KCNH2 | n.3642A>G c.2809A>G (p.Ser937Gly) c.1789A>G (p.Ser597Gly) c.2509A>G (p.Ser837Gly) c.2693-71A>G (n.2693-71A>G) c.2659A>G (p.Ser887Gly) c.2632A>G (p.Ser878Gly) | |
| 7 | g.150947762T>G | CA369853360 | KCNH2 | n.3642A>C c.2809A>C (p.Ser937Arg) c.1789A>C (p.Ser597Arg) c.2509A>C (p.Ser837Arg) c.2693-71A>C (n.2693-71A>C) c.2659A>C (p.Ser887Arg) c.2632A>C (p.Ser878Arg) | |
| 7 | g.150947763G>A | CA16605073 | KCNH2 | n.3641C>T c.2808C>T (p.Ser936=) c.1788C>T (p.Ser596=) c.2508C>T (p.Ser836=) c.2693-72C>T (n.2693-72C>T) c.2658C>T (p.Ser886=) c.2631C>T (p.Ser877=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947763G>C | CA458871084 | KCNH2 | n.3641C>G c.2808C>G (p.Ser936=) c.1788C>G (p.Ser596=) c.2508C>G (p.Ser836=) c.2693-72C>G (n.2693-72C>G) c.2658C>G (p.Ser886=) c.2631C>G (p.Ser877=) | |
| 7 | g.150947763G= | CA1752430183 | KCNH2 | n.3641C= c.2808C= (p.Ser936=) c.1788C= (p.Ser596=) c.2508C= (p.Ser836=) c.2693-72C= (n.2693-72C=) c.2658C= (p.Ser886=) c.2631C= (p.Ser877=) | |
| 7 | g.150947763G>T | CA458871085 | KCNH2 | n.3641C>A c.2808C>A (p.Ser936=) c.1788C>A (p.Ser596=) c.2508C>A (p.Ser836=) c.2693-72C>A (n.2693-72C>A) c.2658C>A (p.Ser886=) c.2631C>A (p.Ser877=) | gnomAD v4 |
| 7 | g.150947764G>A | CA369853363 | KCNH2 | n.3640C>T c.2807C>T (p.Ser936Phe) c.1787C>T (p.Ser596Phe) c.2507C>T (p.Ser836Phe) c.2693-73C>T (n.2693-73C>T) c.2657C>T (p.Ser886Phe) c.2630C>T (p.Ser877Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947764G>C | CA369853361 | KCNH2 | n.3640C>G c.2807C>G (p.Ser936Cys) c.1787C>G (p.Ser596Cys) c.2507C>G (p.Ser836Cys) c.2693-73C>G (n.2693-73C>G) c.2657C>G (p.Ser886Cys) c.2630C>G (p.Ser877Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947764G= | CA1752430187 | KCNH2 | n.3640C= c.2807C= (p.Ser936=) c.1787C= (p.Ser596=) c.2507C= (p.Ser836=) c.2693-73C= (n.2693-73C=) c.2657C= (p.Ser886=) c.2630C= (p.Ser877=) | |
| 7 | g.150947764G>T | CA369853362 | KCNH2 | n.3640C>A c.2807C>A (p.Ser936Tyr) c.1787C>A (p.Ser596Tyr) c.2507C>A (p.Ser836Tyr) c.2693-73C>A (n.2693-73C>A) c.2657C>A (p.Ser886Tyr) c.2630C>A (p.Ser877Tyr) | |
| 7 | g.150947765del | CA2685602128 | KCNH2 | n.3639del c.2806del (p.Ser936ProfsTer?) c.1786del (p.Ser596ProfsTer?) c.2506del (p.Ser836ProfsTer?) c.2693-74del (n.2693-74del) c.2656del (p.Ser886ProfsTer?) c.2629del (p.Ser877ProfsTer?) | gnomAD v4 |
| 7 | g.150947765A>C | CA369853364 | KCNH2 | n.3639T>G c.2806T>G (p.Ser936Ala) c.1786T>G (p.Ser596Ala) c.2506T>G (p.Ser836Ala) c.2693-74T>G (n.2693-74T>G) c.2656T>G (p.Ser886Ala) c.2629T>G (p.Ser877Ala) | |
| 7 | g.150947765A>G | CA369853365 | KCNH2 | n.3639T>C c.2806T>C (p.Ser936Pro) c.1786T>C (p.Ser596Pro) c.2506T>C (p.Ser836Pro) c.2693-74T>C (n.2693-74T>C) c.2656T>C (p.Ser886Pro) c.2629T>C (p.Ser877Pro) | |
| 7 | g.150947765A>T | CA369853366 | KCNH2 | n.3639T>A c.2806T>A (p.Ser936Thr) c.1786T>A (p.Ser596Thr) c.2506T>A (p.Ser836Thr) c.2693-74T>A (n.2693-74T>A) c.2656T>A (p.Ser886Thr) c.2629T>A (p.Ser877Thr) | |
| 7 | g.150947766G>A | CA458871092 | KCNH2 | n.3638C>T c.2805C>T (p.Pro935=) c.1785C>T (p.Pro595=) c.2505C>T (p.Pro835=) c.2693-75C>T (n.2693-75C>T) c.2655C>T (p.Pro885=) c.2628C>T (p.Pro876=) | |
| 7 | g.150947766G>C | CA458871093 | KCNH2 | n.3638C>G c.2805C>G (p.Pro935=) c.1785C>G (p.Pro595=) c.2505C>G (p.Pro835=) c.2693-75C>G (n.2693-75C>G) c.2655C>G (p.Pro885=) c.2628C>G (p.Pro876=) | |
| 7 | g.150947766G>T | CA458871095 | KCNH2 | n.3638C>A c.2805C>A (p.Pro935=) c.1785C>A (p.Pro595=) c.2505C>A (p.Pro835=) c.2693-75C>A (n.2693-75C>A) c.2655C>A (p.Pro885=) c.2628C>A (p.Pro876=) | |
| 7 | g.150947767G>A | CA369853367 | KCNH2 | n.3637C>T c.2804C>T (p.Pro935Leu) c.1784C>T (p.Pro595Leu) c.2504C>T (p.Pro835Leu) c.2693-76C>T (n.2693-76C>T) c.2654C>T (p.Pro885Leu) c.2627C>T (p.Pro876Leu) | ClinVar gnomAD v4 |
| 7 | g.150947767G>C | CA369853368 | KCNH2 | n.3637C>G c.2804C>G (p.Pro935Arg) c.1784C>G (p.Pro595Arg) c.2504C>G (p.Pro835Arg) c.2693-76C>G (n.2693-76C>G) c.2654C>G (p.Pro885Arg) c.2627C>G (p.Pro876Arg) | |
| 7 | g.150947767G>T | CA369853369 | KCNH2 | n.3637C>A c.2804C>A (p.Pro935His) c.1784C>A (p.Pro595His) c.2504C>A (p.Pro835His) c.2693-76C>A (n.2693-76C>A) c.2654C>A (p.Pro885His) c.2627C>A (p.Pro876His) | ClinVar gnomAD v4 |
| 7 | g.150947768G>A | CA369853370 | KCNH2 | n.3636C>T c.2803C>T (p.Pro935Ser) c.1783C>T (p.Pro595Ser) c.2503C>T (p.Pro835Ser) c.2693-77C>T (n.2693-77C>T) c.2653C>T (p.Pro885Ser) c.2626C>T (p.Pro876Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947768G>C | CA369853371 | KCNH2 | n.3636C>G c.2803C>G (p.Pro935Ala) c.1783C>G (p.Pro595Ala) c.2503C>G (p.Pro835Ala) c.2693-77C>G (n.2693-77C>G) c.2653C>G (p.Pro885Ala) c.2626C>G (p.Pro876Ala) | ClinVar dbSNP |
| 7 | g.150947768G= | CA1752430189 | KCNH2 | n.3636C= c.2803C= (p.Pro935=) c.1783C= (p.Pro595=) c.2503C= (p.Pro835=) c.2693-77C= (n.2693-77C=) c.2653C= (p.Pro885=) c.2626C= (p.Pro876=) | |
| 7 | g.150947768G>T | CA369853372 | KCNH2 | n.3636C>A c.2803C>A (p.Pro935Thr) c.1783C>A (p.Pro595Thr) c.2503C>A (p.Pro835Thr) c.2693-77C>A (n.2693-77C>A) c.2653C>A (p.Pro885Thr) c.2626C>A (p.Pro876Thr) | dbSNP gnomAD v2 gnomAD v4 |