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.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.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.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.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.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.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=) | |
7 | g.150958420C>G | CA458646789 | KCNH2 | n.1388G>C c.555G>C (p.Ala185=) c.235-28G>C (n.235-28G>C) n.778G>C c.255G>C (p.Ala85=) c.405G>C (p.Ala135=) c.378G>C (p.Ala126=) | |
7 | g.150958420C>T | CA169081470 | KCNH2 | n.1388G>A c.555G>A (p.Ala185=) c.235-28G>A (n.235-28G>A) n.778G>A c.255G>A (p.Ala85=) c.405G>A (p.Ala135=) c.378G>A (p.Ala126=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150958421del | CA2685608934 | KCNH2 | n.1387del c.554del (p.Ala185GlyfsTer16) c.235-29del (n.235-29del) n.777del c.254del (p.Ala85GlyfsTer16) c.404del (p.Ala135GlyfsTer16) c.377del (p.Ala126GlyfsTer16) | gnomAD v4 |
7 | g.150958421G>A | CA369863326 | KCNH2 | n.1387C>T c.554C>T (p.Ala185Val) c.235-29C>T (n.235-29C>T) n.777C>T c.254C>T (p.Ala85Val) c.404C>T (p.Ala135Val) c.377C>T (p.Ala126Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958421G>C | CA369863328 | KCNH2 | n.1387C>G c.554C>G (p.Ala185Gly) c.235-29C>G (n.235-29C>G) n.777C>G c.254C>G (p.Ala85Gly) c.404C>G (p.Ala135Gly) c.377C>G (p.Ala126Gly) | gnomAD v4 |
7 | g.150958421G= | CA1752418671 | KCNH2 | n.1387C= c.554C= (p.Ala185=) c.235-29C= (n.235-29C=) n.777C= c.254C= (p.Ala85=) c.404C= (p.Ala135=) c.377C= (p.Ala126=) | |
7 | g.150958421G>T | CA369863330 | KCNH2 | n.1387C>A c.554C>A (p.Ala185Glu) c.235-29C>A (n.235-29C>A) n.777C>A c.254C>A (p.Ala85Glu) c.404C>A (p.Ala135Glu) c.377C>A (p.Ala126Glu) | gnomAD v4 |
7 | g.150958422C>A | CA369863332 | KCNH2 | n.1386G>T c.553G>T (p.Ala185Ser) c.235-30G>T (n.235-30G>T) n.776G>T c.253G>T (p.Ala85Ser) c.403G>T (p.Ala135Ser) c.376G>T (p.Ala126Ser) | gnomAD v4 |
7 | g.150958422C>G | CA369863333 | KCNH2 | n.1386G>C c.553G>C (p.Ala185Pro) c.235-30G>C (n.235-30G>C) n.776G>C c.253G>C (p.Ala85Pro) c.403G>C (p.Ala135Pro) c.376G>C (p.Ala126Pro) | |
7 | g.150958422C>T | CA369863335 | KCNH2 | n.1386G>A c.553G>A (p.Ala185Thr) c.235-30G>A (n.235-30G>A) n.776G>A c.253G>A (p.Ala85Thr) c.403G>A (p.Ala135Thr) c.376G>A (p.Ala126Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.150958423G>A | CA458646795 | KCNH2 | n.1385C>T c.552C>T (p.Gly184=) c.235-31C>T (n.235-31C>T) n.775C>T c.252C>T (p.Gly84=) c.402C>T (p.Gly134=) c.375C>T (p.Gly125=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958423G>C | CA458646797 | KCNH2 | n.1385C>G c.552C>G (p.Gly184=) c.235-31C>G (n.235-31C>G) n.775C>G c.252C>G (p.Gly84=) c.402C>G (p.Gly134=) c.375C>G (p.Gly125=) | gnomAD v4 |
7 | g.150958423G= | CA1752418673 | KCNH2 | n.1385C= c.552C= (p.Gly184=) c.235-31C= (n.235-31C=) n.775C= c.252C= (p.Gly84=) c.402C= (p.Gly134=) c.375C= (p.Gly125=) | |
7 | g.150958423G>T | CA458646798 | KCNH2 | n.1385C>A c.552C>A (p.Gly184=) c.235-31C>A (n.235-31C>A) n.775C>A c.252C>A (p.Gly84=) c.402C>A (p.Gly134=) c.375C>A (p.Gly125=) | gnomAD v4 |
7 | g.150958424C>A | CA369863337 | KCNH2 | n.1384G>T c.551G>T (p.Gly184Val) c.235-32G>T (n.235-32G>T) n.774G>T c.251G>T (p.Gly84Val) c.401G>T (p.Gly134Val) c.374G>T (p.Gly125Val) | gnomAD v4 |
7 | g.150958424C>G | CA369863340 | KCNH2 | n.1384G>C c.551G>C (p.Gly184Ala) c.235-32G>C (n.235-32G>C) n.774G>C c.251G>C (p.Gly84Ala) c.401G>C (p.Gly134Ala) c.374G>C (p.Gly125Ala) | |
7 | g.150958424C>T | CA369863339 | KCNH2 | n.1384G>A c.551G>A (p.Gly184Asp) c.235-32G>A (n.235-32G>A) n.774G>A c.251G>A (p.Gly84Asp) c.401G>A (p.Gly134Asp) c.374G>A (p.Gly125Asp) | gnomAD v4 |
7 | g.150958428_150958435dup | CA658797049 | KCNH2 | n.1377_1384dup c.544_551dup (p.Ala185ArgfsTer19) c.235-39_235-32dup (n.235-39_235-32dup) n.767_774dup c.244_251dup (p.Ala85ArgfsTer19) c.394_401dup (p.Ala135ArgfsTer19) c.367_374dup (p.Ala126ArgfsTer19) | ClinVar dbSNP |
7 | g.150958425C>A | CA369863342 | KCNH2 | n.1383G>T c.550G>T (p.Gly184Cys) c.235-33G>T (n.235-33G>T) n.773G>T c.250G>T (p.Gly84Cys) c.400G>T (p.Gly134Cys) c.373G>T (p.Gly125Cys) | gnomAD v4 |
7 | g.150958425C= | CA1752418680 | KCNH2 | n.1383G= c.550G= (p.Gly184=) c.235-33G= (n.235-33G=) n.773G= c.250G= (p.Gly84=) c.400G= (p.Gly134=) c.373G= (p.Gly125=) | |
7 | g.150958425C>G | CA369863344 | KCNH2 | n.1383G>C c.550G>C (p.Gly184Arg) c.235-33G>C (n.235-33G>C) n.773G>C c.250G>C (p.Gly84Arg) c.400G>C (p.Gly134Arg) c.373G>C (p.Gly125Arg) | |
7 | g.150958425C>T | CA369863346 | KCNH2 | n.1383G>A c.550G>A (p.Gly184Ser) c.235-33G>A (n.235-33G>A) n.773G>A c.250G>A (p.Gly84Ser) c.400G>A (p.Gly134Ser) c.373G>A (p.Gly125Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.150958426G>A | CA458646804 | KCNH2 | n.1382C>T c.549C>T (p.Gly183=) c.235-34C>T (n.235-34C>T) n.772C>T c.249C>T (p.Gly83=) c.399C>T (p.Gly133=) c.372C>T (p.Gly124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958426G>C | CA458646806 | KCNH2 | n.1382C>G c.549C>G (p.Gly183=) c.235-34C>G (n.235-34C>G) n.772C>G c.249C>G (p.Gly83=) c.399C>G (p.Gly133=) c.372C>G (p.Gly124=) | gnomAD v4 |
7 | g.150958426G= | CA1752418682 | KCNH2 | n.1382C= c.549C= (p.Gly183=) c.235-34C= (n.235-34C=) n.772C= c.249C= (p.Gly83=) c.399C= (p.Gly133=) c.372C= (p.Gly124=) | |
7 | g.150958426G>T | CA458646807 | KCNH2 | n.1382C>A c.549C>A (p.Gly183=) c.235-34C>A (n.235-34C>A) n.772C>A c.249C>A (p.Gly83=) c.399C>A (p.Gly133=) c.372C>A (p.Gly124=) | gnomAD v4 |
7 | g.150958427C>A | CA369863349 | KCNH2 | n.1381G>T c.548G>T (p.Gly183Val) c.235-35G>T (n.235-35G>T) n.771G>T c.248G>T (p.Gly83Val) c.398G>T (p.Gly133Val) c.371G>T (p.Gly124Val) | gnomAD v4 |