Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150958394_150958422delinsCCCGGTCA2499218813KCNH2n.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
7g.150958404_150958421delCA2685608581KCNH2n.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
7g.150958405_150958420delinsGGCGCCCGCGCCGCCCCA1752418599KCNH2n.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=)
7g.150958411_150958425delCA658656015KCNH2n.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
7g.150958422_150958430dupCA305297KCNH2n.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
7g.150958413_150958430dupCA916080381KCNH2n.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
7g.150958422_150958430delCA008582KCNH2n.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
7g.150958413_150958430delCA2685608743KCNH2n.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
7g.150958409_150958418delinsGCGAACA2695208645KCNH2n.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?)
7g.150958415_150958422delCA2580077702KCNH2n.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
7g.150958418_150958430delCA2580077703KCNH2n.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
7g.150958420_150958453delCA2695208647KCNH2n.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)
7g.150958418C>ACA369863316KCNH2n.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
7g.150958418C>GCA369863318KCNH2n.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)
7g.150958418C>TCA369863319KCNH2n.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
7g.150958420dupCA2580077704KCNH2n.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
7g.150958419C>ACA369863320KCNH2n.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)
7g.150958419C>GCA369863322KCNH2n.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)
7g.150958419C>TCA369863324KCNH2n.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
7g.150958421_150958428delCA2695208648KCNH2n.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?)
7g.150958423_150958435delCA2499218814KCNH2n.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
7g.150958420C>ACA458646786KCNH2n.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
7g.150958420C=CA1752418668KCNH2n.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=)
7g.150958420C>GCA458646789KCNH2n.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=)
7g.150958420C>TCA169081470KCNH2n.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
7g.150958421delCA2685608934KCNH2n.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
7g.150958421G>ACA369863326KCNH2n.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
7g.150958421G>CCA369863328KCNH2n.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
7g.150958421G=CA1752418671KCNH2n.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=)
7g.150958421G>TCA369863330KCNH2n.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
7g.150958422C>ACA369863332KCNH2n.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
7g.150958422C>GCA369863333KCNH2n.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)
7g.150958422C>TCA369863335KCNH2n.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
7g.150958423G>ACA458646795KCNH2n.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
7g.150958423G>CCA458646797KCNH2n.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
7g.150958423G=CA1752418673KCNH2n.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=)
7g.150958423G>TCA458646798KCNH2n.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
7g.150958424C>ACA369863337KCNH2n.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
7g.150958424C>GCA369863340KCNH2n.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)
7g.150958424C>TCA369863339KCNH2n.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
7g.150958428_150958435dupCA658797049KCNH2n.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
7g.150958425C>ACA369863342KCNH2n.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
7g.150958425C=CA1752418680KCNH2n.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=)
7g.150958425C>GCA369863344KCNH2n.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)
7g.150958425C>TCA369863346KCNH2n.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
7g.150958426G>ACA458646804KCNH2n.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
7g.150958426G>CCA458646806KCNH2n.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
7g.150958426G=CA1752418682KCNH2n.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=)
7g.150958426G>TCA458646807KCNH2n.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
7g.150958427C>ACA369863349KCNH2n.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

Number of alleles fetched