Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150958394_150958422delinsCCCGGT | CA2499218813 | KCNH2 | n.1386_1414delinsACCGGG c.553_581delinsACCGGG (p.Ala185ThrfsTer?) c.235-30_235-2delinsACCGGG (n.235-30_235-2delinsACCGGG) n.776_804delinsACCGGG c.253_281delinsACCGGG (p.Ala85ThrfsTer?) c.403_431delinsACCGGG (p.Ala135ThrfsTer?) c.376_404delinsACCGGG (p.Ala126ThrfsTer?) | ClinVar dbSNP |
7 | g.150958399_150958416del | CA2685608570 | KCNH2 | n.1393_1410del c.560_577del (p.Gly187_Gly192del) c.235-23_235-6del (n.235-23_235-6del) n.783_800del c.260_277del (p.Gly87_Gly92del) c.410_427del (p.Gly137_Gly142del) c.383_400del (p.Gly128_Gly133del) | gnomAD v4 |
7 | g.150958404_150958421del | CA2685608581 | KCNH2 | n.1391_1408del c.558_575del (p.Gly187_Gly192del) c.235-25_235-8del (n.235-25_235-8del) n.781_798del c.258_275del (p.Gly87_Gly92del) c.408_425del (p.Gly137_Gly142del) c.381_398del (p.Gly128_Gly133del) | gnomAD v4 |
7 | g.150958404_150958413delinsGGGCGCCCGC | CA1752418595 | KCNH2 | n.1395_1404delinsGCGGGCGCCC c.562_571delinsGCGGGCGCCC (p.Ala188=) c.235-21_235-12delinsGCGGGCGCCC (n.235-21_235-12delinsGCGGGCGCCC) n.785_794delinsGCGGGCGCCC c.262_271delinsGCGGGCGCCC (p.Ala88=) c.412_421delinsGCGGGCGCCC (p.Ala138=) c.385_394delinsGCGGGCGCCC (p.Ala129=) | |
7 | g.150958406_150958414dup | CA2573141819 | KCNH2 | n.1395_1403dup c.562_570dup (p.Ala190_Pro191insAlaGlyAla) c.235-21_235-13dup (n.235-21_235-13dup) n.785_793dup c.262_270dup (p.Ala90_Pro91insAlaGlyAla) c.412_420dup (p.Ala140_Pro141insAlaGlyAla) c.385_393dup (p.Ala131_Pro132insAlaGlyAla) | ClinVar dbSNP gnomAD v4 |
7 | g.150958406_150958414del | CA579075493 | KCNH2 | n.1395_1403del c.562_570del (p.Ala188_Ala190del) c.235-21_235-13del (n.235-21_235-13del) n.785_793del c.262_270del (p.Ala88_Ala90del) c.412_420del (p.Ala138_Ala140del) c.385_393del (p.Ala129_Ala131del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958405_150958420delinsGGCGCCCGCGCCGCCC | CA1752418599 | KCNH2 | n.1388_1403delinsGGGCGGCGCGGGCGCC c.555_570delinsGGGCGGCGCGGGCGCC (p.Ala185=) c.235-28_235-13delinsGGGCGGCGCGGGCGCC (n.235-28_235-13delinsGGGCGGCGCGGGCGCC) n.778_793delinsGGGCGGCGCGGGCGCC c.255_270delinsGGGCGGCGCGGGCGCC (p.Ala85=) c.405_420delinsGGGCGGCGCGGGCGCC (p.Ala135=) c.378_393delinsGGGCGGCGCGGGCGCC (p.Ala126=) | |
7 | g.150958406_150958415delinsGCGCCCGCGC | CA1752418602 | KCNH2 | n.1393_1402delinsGCGCGGGCGC c.560_569delinsGCGCGGGCGC (p.Gly187=) c.235-23_235-14delinsGCGCGGGCGC (n.235-23_235-14delinsGCGCGGGCGC) n.783_792delinsGCGCGGGCGC c.260_269delinsGCGCGGGCGC (p.Gly87=) c.410_419delinsGCGCGGGCGC (p.Gly137=) c.383_392delinsGCGCGGGCGC (p.Gly128=) | |
7 | g.150958411_150958425del | CA658656015 | KCNH2 | n.1388_1402del c.555_569del (p.Gly186_Ala190del) c.235-28_235-14del (n.235-28_235-14del) n.778_792del c.255_269del (p.Gly86_Ala90del) c.405_419del (p.Gly136_Ala140del) c.378_392del (p.Gly127_Ala131del) | ClinVar dbSNP |
7 | g.150958410_150958413del | CA008597 | KCNH2 | n.1398_1401del c.565_568del (p.Gly189ProfsTer11) c.235-18_235-15del (n.235-18_235-15del) n.788_791del c.265_268del (p.Gly89ProfsTer11) c.415_418del (p.Gly139ProfsTer11) c.388_391del (p.Gly130ProfsTer11) | ClinVar dbSNP |
7 | g.150958422_150958430dup | CA305297 | KCNH2 | n.1393_1401dup c.560_568dup (p.Gly189_Ala190insGlyAlaGly) c.235-23_235-15dup (n.235-23_235-15dup) n.783_791dup c.260_268dup (p.Gly89_Ala90insGlyAlaGly) c.410_418dup (p.Gly139_Ala140insGlyAlaGly) c.383_391dup (p.Gly130_Ala131insGlyAlaGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958413_150958430dup | CA916080381 | KCNH2 | n.1384_1401dup c.551_568dup (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) c.235-32_235-15dup (n.235-32_235-15dup) n.774_791dup c.251_268dup (p.Gly89_Ala90insGlyAlaGlyGlyAlaGly) c.401_418dup (p.Gly139_Ala140insGlyAlaGlyGlyAlaGly) c.374_391dup (p.Gly130_Ala131insGlyAlaGlyGlyAlaGly) | ClinVar dbSNP gnomAD v4 |
7 | g.150958422_150958430del | CA008582 | KCNH2 | n.1393_1401del c.560_568del (p.Gly187_Gly189del) c.235-23_235-15del (n.235-23_235-15del) n.783_791del c.260_268del (p.Gly87_Gly89del) c.410_418del (p.Gly137_Gly139del) c.383_391del (p.Gly128_Gly130del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958413_150958430del | CA2685608743 | KCNH2 | n.1384_1401del c.551_568del (p.Gly184_Gly189del) c.235-32_235-15del (n.235-32_235-15del) n.774_791del c.251_268del (p.Gly84_Gly89del) c.401_418del (p.Gly134_Gly139del) c.374_391del (p.Gly125_Gly130del) | gnomAD v4 |
7 | g.150958409_150958418delinsGCGAA | CA2695208645 | KCNH2 | n.1390_1399delinsTTCGC c.557_566delinsTTCGC (p.Gly186ValfsTer?) c.235-26_235-17delinsTTCGC (n.235-26_235-17delinsTTCGC) n.780_789delinsTTCGC c.257_266delinsTTCGC (p.Gly86ValfsTer?) c.407_416delinsTTCGC (p.Gly136ValfsTer?) c.380_389delinsTTCGC (p.Gly127ValfsTer?) | |
7 | g.150958414_150958415dup | CA1752418639 | KCNH2 | n.1396_1397dup c.563_564dup (p.Gly189ArgfsTer13) c.235-20_235-19dup (n.235-20_235-19dup) n.786_787dup c.263_264dup (p.Gly89ArgfsTer13) c.413_414dup (p.Gly139ArgfsTer13) c.386_387dup (p.Gly130ArgfsTer13) | dbSNP |
7 | g.150958414_150958415del | CA2695208646 | KCNH2 | n.1396_1397del c.563_564del (p.Ala188GlyfsTer?) c.235-20_235-19del (n.235-20_235-19del) n.786_787del c.263_264del (p.Ala88GlyfsTer?) c.413_414del (p.Ala138GlyfsTer?) c.386_387del (p.Ala129GlyfsTer?) | |
7 | g.150958413C>A | CA369863301 | KCNH2 | n.1395G>T c.562G>T (p.Ala188Ser) c.235-21G>T (n.235-21G>T) n.785G>T c.262G>T (p.Ala88Ser) c.412G>T (p.Ala138Ser) c.385G>T (p.Ala129Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958413C= | CA1752418649 | KCNH2 | n.1395G= c.562G= (p.Ala188=) c.235-21G= (n.235-21G=) n.785G= c.262G= (p.Ala88=) c.412G= (p.Ala138=) c.385G= (p.Ala129=) | |
7 | g.150958413C>G | CA369863302 | KCNH2 | n.1395G>C c.562G>C (p.Ala188Pro) c.235-21G>C (n.235-21G>C) n.785G>C c.262G>C (p.Ala88Pro) c.412G>C (p.Ala138Pro) c.385G>C (p.Ala129Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958413C>T | CA369863303 | KCNH2 | n.1395G>A c.562G>A (p.Ala188Thr) c.235-21G>A (n.235-21G>A) n.785G>A c.262G>A (p.Ala88Thr) c.412G>A (p.Ala138Thr) c.385G>A (p.Ala129Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.150958414G>A | CA458646768 | KCNH2 | n.1394C>T c.561C>T (p.Gly187=) c.235-22C>T (n.235-22C>T) n.784C>T c.261C>T (p.Gly87=) c.411C>T (p.Gly137=) c.384C>T (p.Gly128=) | gnomAD v4 COSMIC COSMIC |
7 | g.150958414G>C | CA458646770 | KCNH2 | n.1394C>G c.561C>G (p.Gly187=) c.235-22C>G (n.235-22C>G) n.784C>G c.261C>G (p.Gly87=) c.411C>G (p.Gly137=) c.384C>G (p.Gly128=) | ClinVar gnomAD v4 |
7 | g.150958414G>T | CA458646769 | KCNH2 | n.1394C>A c.561C>A (p.Gly187=) c.235-22C>A (n.235-22C>A) n.784C>A c.261C>A (p.Gly87=) c.411C>A (p.Gly137=) c.384C>A (p.Gly128=) | gnomAD v4 |
7 | g.150958415C>A | CA369863306 | KCNH2 | n.1393G>T c.560G>T (p.Gly187Val) c.235-23G>T (n.235-23G>T) n.783G>T c.260G>T (p.Gly87Val) c.410G>T (p.Gly137Val) c.383G>T (p.Gly128Val) | gnomAD v4 |
7 | g.150958415C= | CA1752418654 | KCNH2 | n.1393G= c.560G= (p.Gly187=) c.235-23G= (n.235-23G=) n.783G= c.260G= (p.Gly87=) c.410G= (p.Gly137=) c.383G= (p.Gly128=) | |
7 | g.150958415C>G | CA369863307 | KCNH2 | n.1393G>C c.560G>C (p.Gly187Ala) c.235-23G>C (n.235-23G>C) n.783G>C c.260G>C (p.Gly87Ala) c.410G>C (p.Gly137Ala) c.383G>C (p.Gly128Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958415C>T | CA369863309 | KCNH2 | n.1393G>A c.560G>A (p.Gly187Asp) c.235-23G>A (n.235-23G>A) n.783G>A c.260G>A (p.Gly87Asp) c.410G>A (p.Gly137Asp) c.383G>A (p.Gly128Asp) | gnomAD v4 |
7 | g.150958415_150958422del | CA2580077702 | KCNH2 | n.1386_1393del c.553_560del (p.Ala185ArgfsTer?) c.235-30_235-23del (n.235-30_235-23del) n.776_783del c.253_260del (p.Ala85ArgfsTer?) c.403_410del (p.Ala135ArgfsTer?) c.376_383del (p.Ala126ArgfsTer?) | ClinVar |
7 | g.150958418_150958430del | CA2580077703 | KCNH2 | n.1381_1393del c.548_560del (p.Gly183AlafsTer14) c.235-35_235-23del (n.235-35_235-23del) n.771_783del c.248_260del (p.Gly83AlafsTer14) c.398_410del (p.Gly133AlafsTer14) c.371_383del (p.Gly124AlafsTer14) | ClinVar |
7 | g.150958416C>A | CA369863311 | KCNH2 | n.1392G>T c.559G>T (p.Gly187Cys) c.235-24G>T (n.235-24G>T) n.782G>T c.259G>T (p.Gly87Cys) c.409G>T (p.Gly137Cys) c.382G>T (p.Gly128Cys) | ClinVar gnomAD v4 |
7 | g.150958416C= | CA1752418659 | KCNH2 | n.1392G= c.559G= (p.Gly187=) c.235-24G= (n.235-24G=) n.782G= c.259G= (p.Gly87=) c.409G= (p.Gly137=) c.382G= (p.Gly128=) | |
7 | g.150958416C>G | CA369863313 | KCNH2 | n.1392G>C c.559G>C (p.Gly187Arg) c.235-24G>C (n.235-24G>C) n.782G>C c.259G>C (p.Gly87Arg) c.409G>C (p.Gly137Arg) c.382G>C (p.Gly128Arg) | |
7 | g.150958416C>T | CA008577 | KCNH2 | n.1392G>A c.559G>A (p.Gly187Ser) c.235-24G>A (n.235-24G>A) n.782G>A c.259G>A (p.Gly87Ser) c.409G>A (p.Gly137Ser) c.382G>A (p.Gly128Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150958417G>A | CA008570 | KCNH2 | n.1391C>T c.558C>T (p.Gly186=) c.235-25C>T (n.235-25C>T) n.781C>T c.258C>T (p.Gly86=) c.408C>T (p.Gly136=) c.381C>T (p.Gly127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958417G>C | CA458646779 | KCNH2 | n.1391C>G c.558C>G (p.Gly186=) c.235-25C>G (n.235-25C>G) n.781C>G c.258C>G (p.Gly86=) c.408C>G (p.Gly136=) c.381C>G (p.Gly127=) | ClinVar |
7 | g.150958417G= | CA1752418663 | KCNH2 | n.1391C= c.558C= (p.Gly186=) c.235-25C= (n.235-25C=) n.781C= c.258C= (p.Gly86=) c.408C= (p.Gly136=) c.381C= (p.Gly127=) | |
7 | g.150958417G>T | CA458646777 | KCNH2 | n.1391C>A c.558C>A (p.Gly186=) c.235-25C>A (n.235-25C>A) n.781C>A c.258C>A (p.Gly86=) c.408C>A (p.Gly136=) c.381C>A (p.Gly127=) | gnomAD v4 |
7 | g.150958420_150958453del | CA2695208647 | KCNH2 | n.1358_1391del c.525_558del (p.Arg176AlafsTer14) c.235-58_235-25del (n.235-58_235-25del) n.748_781del c.225_258del (p.Arg76AlafsTer14) c.375_408del (p.Arg126AlafsTer14) c.348_381del (p.Arg117AlafsTer14) | |
7 | g.150958418C>A | CA369863316 | KCNH2 | n.1390G>T c.557G>T (p.Gly186Val) c.235-26G>T (n.235-26G>T) n.780G>T c.257G>T (p.Gly86Val) c.407G>T (p.Gly136Val) c.380G>T (p.Gly127Val) | gnomAD v4 |
7 | g.150958418C>G | CA369863318 | KCNH2 | n.1390G>C c.557G>C (p.Gly186Ala) c.235-26G>C (n.235-26G>C) n.780G>C c.257G>C (p.Gly86Ala) c.407G>C (p.Gly136Ala) c.380G>C (p.Gly127Ala) | |
7 | g.150958418C>T | CA369863319 | KCNH2 | n.1390G>A c.557G>A (p.Gly186Asp) c.235-26G>A (n.235-26G>A) n.780G>A c.257G>A (p.Gly86Asp) c.407G>A (p.Gly136Asp) c.380G>A (p.Gly127Asp) | gnomAD v4 |
7 | g.150958420dup | CA2580077704 | KCNH2 | n.1390dup c.557dup (p.Gly187ArgfsTer?) c.235-26dup (n.235-26dup) n.780dup c.257dup (p.Gly87ArgfsTer?) c.407dup (p.Gly137ArgfsTer?) c.380dup (p.Gly128ArgfsTer?) | ClinVar |
7 | g.150958419C>A | CA369863320 | KCNH2 | n.1389G>T c.556G>T (p.Gly186Cys) c.235-27G>T (n.235-27G>T) n.779G>T c.256G>T (p.Gly86Cys) c.406G>T (p.Gly136Cys) c.379G>T (p.Gly127Cys) | |
7 | g.150958419C>G | CA369863322 | KCNH2 | n.1389G>C c.556G>C (p.Gly186Arg) c.235-27G>C (n.235-27G>C) n.779G>C c.256G>C (p.Gly86Arg) c.406G>C (p.Gly136Arg) c.379G>C (p.Gly127Arg) | |
7 | g.150958419C>T | CA369863324 | KCNH2 | n.1389G>A c.556G>A (p.Gly186Ser) c.235-27G>A (n.235-27G>A) n.779G>A c.256G>A (p.Gly86Ser) c.406G>A (p.Gly136Ser) c.379G>A (p.Gly127Ser) | gnomAD v4 |
7 | g.150958421_150958428del | CA2695208648 | KCNH2 | n.1382_1389del c.549_556del (p.Gly184ArgfsTer?) c.235-34_235-27del (n.235-34_235-27del) n.772_779del c.249_256del (p.Gly84ArgfsTer?) c.399_406del (p.Gly134ArgfsTer?) c.372_379del (p.Gly125ArgfsTer?) | |
7 | g.150958423_150958435del | CA2499218814 | KCNH2 | n.1377_1389del c.544_556del (p.Ser182AlafsTer15) c.235-39_235-27del (n.235-39_235-27del) n.767_779del c.244_256del (p.Ser82AlafsTer15) c.394_406del (p.Ser132AlafsTer15) c.367_379del (p.Ser123AlafsTer15) | ClinVar dbSNP |
7 | g.150958420C>A | CA458646786 | KCNH2 | n.1388G>T c.555G>T (p.Ala185=) c.235-28G>T (n.235-28G>T) n.778G>T c.255G>T (p.Ala85=) c.405G>T (p.Ala135=) c.378G>T (p.Ala126=) | ClinVar gnomAD v4 |
7 | g.150958420C= | CA1752418668 | KCNH2 | n.1388G= c.555G= (p.Ala185=) c.235-28G= (n.235-28G=) n.778G= c.255G= (p.Ala85=) c.405G= (p.Ala135=) c.378G= (p.Ala126=) |