| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150946814_150947018del | CA2697557661 | KCNH2 | n.4027_4163+68del c.3194_3330+68del c.2174_2310+68del c.2894_3030+68del c.3044_3180+68del c.3017_3153+68del | |
| 7 | g.150946903_150946928delinsTGGGGAGGGGGCTGACGGGCAACAGC | CA1752427363 | KCNH2 | n.4112_4137delinsGCTGTTGCCCGTCAGCCCCCTCCCCA c.3279_3304delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1093=) c.2259_2284delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro753=) c.2979_3004delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro993=) c.3129_3154delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1043=) c.3102_3127delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1034=) | |
| 7 | g.150946907dup | CA2695208688 | KCNH2 | n.4136dup c.3303dup (p.Thr1102HisfsTer17) c.2283dup (p.Thr762HisfsTer17) c.3003dup (p.Thr1002HisfsTer17) c.3153dup (p.Thr1052HisfsTer17) c.3126dup (p.Thr1043HisfsTer17) | |
| 7 | g.150946907del | CA2685600553 | KCNH2 | n.4136del c.3303del (p.Thr1102ProfsTer?) c.2283del (p.Thr762ProfsTer?) c.3003del (p.Thr1002ProfsTer?) c.3153del (p.Thr1052ProfsTer?) c.3126del (p.Thr1043ProfsTer?) | gnomAD v4 |
| 7 | g.150946909_150946933del | CA658656007 | KCNH2 | n.4112_4136del c.3279_3303del (p.Leu1094ProfsTer?) c.2259_2283del (p.Leu754ProfsTer?) c.2979_3003del (p.Leu994ProfsTer?) c.3129_3153del (p.Leu1044ProfsTer?) c.3102_3126del (p.Leu1035ProfsTer?) | ClinVar dbSNP |
| 7 | g.150946907G>A | CA458644653 | KCNH2 | n.4133C>T c.3300C>T (p.Leu1100=) c.2280C>T (p.Leu760=) c.3000C>T (p.Leu1000=) c.3150C>T (p.Leu1050=) c.3123C>T (p.Leu1041=) | |
| 7 | g.150946907G>C | CA458644655 | KCNH2 | n.4133C>G c.3300C>G (p.Leu1100=) c.2280C>G (p.Leu760=) c.3000C>G (p.Leu1000=) c.3150C>G (p.Leu1050=) c.3123C>G (p.Leu1041=) | |
| 7 | g.150946907G>T | CA458644654 | KCNH2 | n.4133C>A c.3300C>A (p.Leu1100=) c.2280C>A (p.Leu760=) c.3000C>A (p.Leu1000=) c.3150C>A (p.Leu1050=) c.3123C>A (p.Leu1041=) | COSMIC COSMIC |
| 7 | g.150946908A>C | CA369851968 | KCNH2 | n.4132T>G c.3299T>G (p.Leu1100Arg) c.2279T>G (p.Leu760Arg) c.2999T>G (p.Leu1000Arg) c.3149T>G (p.Leu1050Arg) c.3122T>G (p.Leu1041Arg) | |
| 7 | g.150946908A>G | CA369851970 | KCNH2 | n.4132T>C c.3299T>C (p.Leu1100Pro) c.2279T>C (p.Leu760Pro) c.2999T>C (p.Leu1000Pro) c.3149T>C (p.Leu1050Pro) c.3122T>C (p.Leu1041Pro) | |
| 7 | g.150946908A>T | CA369851971 | KCNH2 | n.4132T>A c.3299T>A (p.Leu1100His) c.2279T>A (p.Leu760His) c.2999T>A (p.Leu1000His) c.3149T>A (p.Leu1050His) c.3122T>A (p.Leu1041His) | |
| 7 | g.150946909G>A | CA369851975 | KCNH2 | n.4131C>T c.3298C>T (p.Leu1100Phe) c.2278C>T (p.Leu760Phe) c.2998C>T (p.Leu1000Phe) c.3148C>T (p.Leu1050Phe) c.3121C>T (p.Leu1041Phe) | gnomAD v4 |
| 7 | g.150946909G>C | CA369851976 | KCNH2 | n.4131C>G c.3298C>G (p.Leu1100Val) c.2278C>G (p.Leu760Val) c.2998C>G (p.Leu1000Val) c.3148C>G (p.Leu1050Val) c.3121C>G (p.Leu1041Val) | |
| 7 | g.150946909G>T | CA369851973 | KCNH2 | n.4131C>A c.3298C>A (p.Leu1100Ile) c.2278C>A (p.Leu760Ile) c.2998C>A (p.Leu1000Ile) c.3148C>A (p.Leu1050Ile) c.3121C>A (p.Leu1041Ile) | |
| 7 | g.150946913del | CA645565630 | KCNH2 | n.4131del c.3298del (p.Leu1100SerfsTer?) c.2278del (p.Leu760SerfsTer?) c.2998del (p.Leu1000SerfsTer?) c.3148del (p.Leu1050SerfsTer?) c.3121del (p.Leu1041SerfsTer?) | COSMIC COSMIC |
| 7 | g.150946910G>A | CA458644657 | KCNH2 | n.4130C>T c.3297C>T (p.Pro1099=) c.2277C>T (p.Pro759=) c.2997C>T (p.Pro999=) c.3147C>T (p.Pro1049=) c.3120C>T (p.Pro1040=) | |
| 7 | g.150946910G>C | CA458644659 | KCNH2 | n.4130C>G c.3297C>G (p.Pro1099=) c.2277C>G (p.Pro759=) c.2997C>G (p.Pro999=) c.3147C>G (p.Pro1049=) c.3120C>G (p.Pro1040=) | gnomAD v4 |
| 7 | g.150946910G>T | CA458644661 | KCNH2 | n.4130C>A c.3297C>A (p.Pro1099=) c.2277C>A (p.Pro759=) c.2997C>A (p.Pro999=) c.3147C>A (p.Pro1049=) c.3120C>A (p.Pro1040=) | |
| 7 | g.150946911G>A | CA369851978 | KCNH2 | n.4129C>T c.3296C>T (p.Pro1099Leu) c.2276C>T (p.Pro759Leu) c.2996C>T (p.Pro999Leu) c.3146C>T (p.Pro1049Leu) c.3119C>T (p.Pro1040Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.150946911G>C | CA369851979 | KCNH2 | n.4129C>G c.3296C>G (p.Pro1099Arg) c.2276C>G (p.Pro759Arg) c.2996C>G (p.Pro999Arg) c.3146C>G (p.Pro1049Arg) c.3119C>G (p.Pro1040Arg) | |
| 7 | g.150946911G= | CA1752427420 | KCNH2 | n.4129C= c.3296C= (p.Pro1099=) c.2276C= (p.Pro759=) c.2996C= (p.Pro999=) c.3146C= (p.Pro1049=) c.3119C= (p.Pro1040=) | |
| 7 | g.150946911G>T | CA369851981 | KCNH2 | n.4129C>A c.3296C>A (p.Pro1099His) c.2276C>A (p.Pro759His) c.2996C>A (p.Pro999His) c.3146C>A (p.Pro1049His) c.3119C>A (p.Pro1040His) | |
| 7 | g.150946915_150946922del | CA2695208689 | KCNH2 | n.4122_4129del c.3289_3296del (p.Val1097ProfsTer19) c.2269_2276del (p.Val757ProfsTer19) c.2989_2996del (p.Val997ProfsTer19) c.3139_3146del (p.Val1047ProfsTer19) c.3112_3119del (p.Val1038ProfsTer19) | |
| 7 | g.150946912G>A | CA369851983 | KCNH2 | n.4128C>T c.3295C>T (p.Pro1099Ser) c.2275C>T (p.Pro759Ser) c.2995C>T (p.Pro999Ser) c.3145C>T (p.Pro1049Ser) c.3118C>T (p.Pro1040Ser) | |
| 7 | g.150946912G>C | CA369851985 | KCNH2 | n.4128C>G c.3295C>G (p.Pro1099Ala) c.2275C>G (p.Pro759Ala) c.2995C>G (p.Pro999Ala) c.3145C>G (p.Pro1049Ala) c.3118C>G (p.Pro1040Ala) | |
| 7 | g.150946912G>T | CA369851986 | KCNH2 | n.4128C>A c.3295C>A (p.Pro1099Thr) c.2275C>A (p.Pro759Thr) c.2995C>A (p.Pro999Thr) c.3145C>A (p.Pro1049Thr) c.3118C>A (p.Pro1040Thr) | gnomAD v4 |
| 7 | g.150946913G>A | CA458644662 | KCNH2 | n.4127C>T c.3294C>T (p.Ser1098=) c.2274C>T (p.Ser758=) c.2994C>T (p.Ser998=) c.3144C>T (p.Ser1048=) c.3117C>T (p.Ser1039=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150946913G>C | CA369851990 | KCNH2 | n.4127C>G c.3294C>G (p.Ser1098Arg) c.2274C>G (p.Ser758Arg) c.2994C>G (p.Ser998Arg) c.3144C>G (p.Ser1048Arg) c.3117C>G (p.Ser1039Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946913G= | CA1752427423 | KCNH2 | n.4127C= c.3294C= (p.Ser1098=) c.2274C= (p.Ser758=) c.2994C= (p.Ser998=) c.3144C= (p.Ser1048=) c.3117C= (p.Ser1039=) | |
| 7 | g.150946913G>T | CA369851988 | KCNH2 | n.4127C>A c.3294C>A (p.Ser1098Arg) c.2274C>A (p.Ser758Arg) c.2994C>A (p.Ser998Arg) c.3144C>A (p.Ser1048Arg) c.3117C>A (p.Ser1039Arg) | gnomAD v4 |
| 7 | g.150946914C>A | CA369851991 | KCNH2 | n.4126G>T c.3293G>T (p.Ser1098Ile) c.2273G>T (p.Ser758Ile) c.2993G>T (p.Ser998Ile) c.3143G>T (p.Ser1048Ile) c.3116G>T (p.Ser1039Ile) | gnomAD v4 |
| 7 | g.150946914C>G | CA369851993 | KCNH2 | n.4126G>C c.3293G>C (p.Ser1098Thr) c.2273G>C (p.Ser758Thr) c.2993G>C (p.Ser998Thr) c.3143G>C (p.Ser1048Thr) c.3116G>C (p.Ser1039Thr) | |
| 7 | g.150946914C>T | CA369851995 | KCNH2 | n.4126G>A c.3293G>A (p.Ser1098Asn) c.2273G>A (p.Ser758Asn) c.2993G>A (p.Ser998Asn) c.3143G>A (p.Ser1048Asn) c.3116G>A (p.Ser1039Asn) | gnomAD v4 |
| 7 | g.150946915T>A | CA369851997 | KCNH2 | n.4125A>T c.3292A>T (p.Ser1098Cys) c.2272A>T (p.Ser758Cys) c.2992A>T (p.Ser998Cys) c.3142A>T (p.Ser1048Cys) c.3115A>T (p.Ser1039Cys) | |
| 7 | g.150946915T>C | CA369851998 | KCNH2 | n.4125A>G c.3292A>G (p.Ser1098Gly) c.2272A>G (p.Ser758Gly) c.2992A>G (p.Ser998Gly) c.3142A>G (p.Ser1048Gly) c.3115A>G (p.Ser1039Gly) | gnomAD v4 |
| 7 | g.150946915T>G | CA369852000 | KCNH2 | n.4125A>C c.3292A>C (p.Ser1098Arg) c.2272A>C (p.Ser758Arg) c.2992A>C (p.Ser998Arg) c.3142A>C (p.Ser1048Arg) c.3115A>C (p.Ser1039Arg) | ClinVar dbSNP |
| 7 | g.150946915T= | CA1752427430 | KCNH2 | n.4125A= c.3292A= (p.Ser1098=) c.2272A= (p.Ser758=) c.2992A= (p.Ser998=) c.3142A= (p.Ser1048=) c.3115A= (p.Ser1039=) | |
| 7 | g.150946916G>A | CA458644664 | KCNH2 | n.4124C>T c.3291C>T (p.Val1097=) c.2271C>T (p.Val757=) c.2991C>T (p.Val997=) c.3141C>T (p.Val1047=) c.3114C>T (p.Val1038=) | gnomAD v4 |
| 7 | g.150946916G>C | CA458644665 | KCNH2 | n.4124C>G c.3291C>G (p.Val1097=) c.2271C>G (p.Val757=) c.2991C>G (p.Val997=) c.3141C>G (p.Val1047=) c.3114C>G (p.Val1038=) | |
| 7 | g.150946916G= | CA1752427435 | KCNH2 | n.4124C= c.3291C= (p.Val1097=) c.2271C= (p.Val757=) c.2991C= (p.Val997=) c.3141C= (p.Val1047=) c.3114C= (p.Val1038=) | |
| 7 | g.150946916G>T | CA458644666 | KCNH2 | n.4124C>A c.3291C>A (p.Val1097=) c.2271C>A (p.Val757=) c.2991C>A (p.Val997=) c.3141C>A (p.Val1047=) c.3114C>A (p.Val1038=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150946917A= | CA1752427438 | KCNH2 | n.4123T= c.3290T= (p.Val1097=) c.2270T= (p.Val757=) c.2990T= (p.Val997=) c.3140T= (p.Val1047=) c.3113T= (p.Val1038=) | |
| 7 | g.150946917A>C | CA369852002 | KCNH2 | n.4123T>G c.3290T>G (p.Val1097Gly) c.2270T>G (p.Val757Gly) c.2990T>G (p.Val997Gly) c.3140T>G (p.Val1047Gly) c.3113T>G (p.Val1038Gly) | |
| 7 | g.150946917A>G | CA369852005 | KCNH2 | n.4123T>C c.3290T>C (p.Val1097Ala) c.2270T>C (p.Val757Ala) c.2990T>C (p.Val997Ala) c.3140T>C (p.Val1047Ala) c.3113T>C (p.Val1038Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150946917A>T | CA369852004 | KCNH2 | n.4123T>A c.3290T>A (p.Val1097Asp) c.2270T>A (p.Val757Asp) c.2990T>A (p.Val997Asp) c.3140T>A (p.Val1047Asp) c.3113T>A (p.Val1038Asp) | |
| 7 | g.150946917_150946918del | CA2685600624 | KCNH2 | n.4122_4123del c.3289_3290del (p.Val1097GlnfsTer21) c.2269_2270del (p.Val757GlnfsTer21) c.2989_2990del (p.Val997GlnfsTer21) c.3139_3140del (p.Val1047GlnfsTer21) c.3112_3113del (p.Val1038GlnfsTer21) | gnomAD v4 |
| 7 | g.150946918C>A | CA369852006 | KCNH2 | n.4122G>T c.3289G>T (p.Val1097Phe) c.2269G>T (p.Val757Phe) c.2989G>T (p.Val997Phe) c.3139G>T (p.Val1047Phe) c.3112G>T (p.Val1038Phe) | gnomAD v4 |
| 7 | g.150946918C= | CA1752427444 | KCNH2 | n.4122G= c.3289G= (p.Val1097=) c.2269G= (p.Val757=) c.2989G= (p.Val997=) c.3139G= (p.Val1047=) c.3112G= (p.Val1038=) | |
| 7 | g.150946918C>G | CA369852007 | KCNH2 | n.4122G>C c.3289G>C (p.Val1097Leu) c.2269G>C (p.Val757Leu) c.2989G>C (p.Val997Leu) c.3139G>C (p.Val1047Leu) c.3112G>C (p.Val1038Leu) | |
| 7 | g.150946918C>T | CA008165 | KCNH2 | n.4122G>A c.3289G>A (p.Val1097Ile) c.2269G>A (p.Val757Ile) c.2989G>A (p.Val997Ile) c.3139G>A (p.Val1047Ile) c.3112G>A (p.Val1038Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |