Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
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)
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.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.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.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.150958430G>ACA369863361KCNH2n.1378C>T
c.545C>T (p.Ser182Leu)
c.235-38C>T (n.235-38C>T)
n.768C>T
c.245C>T (p.Ser82Leu)
c.395C>T (p.Ser132Leu)
c.368C>T (p.Ser123Leu)
dbSNP gnomAD v4 COSMIC COSMIC
7g.150958430G>CCA16612317KCNH2n.1378C>G
c.545C>G (p.Ser182Trp)
c.235-38C>G (n.235-38C>G)
n.768C>G
c.245C>G (p.Ser82Trp)
c.395C>G (p.Ser132Trp)
c.368C>G (p.Ser123Trp)
ClinVar dbSNP gnomAD v4
7g.150958430G=CA1752418689KCNH2n.1378C=
c.545C= (p.Ser182=)
c.235-38C= (n.235-38C=)
n.768C=
c.245C= (p.Ser82=)
c.395C= (p.Ser132=)
c.368C= (p.Ser123=)
7g.150958430G>TCA16042695KCNH2n.1378C>A
c.545C>A (p.Ser182Ter)
c.235-38C>A (n.235-38C>A)
n.768C>A
c.245C>A (p.Ser82Ter)
c.395C>A (p.Ser132Ter)
c.368C>A (p.Ser123Ter)
ClinVar dbSNP gnomAD v4
7g.150958431A>CCA369863368KCNH2n.1377T>G
c.544T>G (p.Ser182Ala)
c.235-39T>G (n.235-39T>G)
n.767T>G
c.244T>G (p.Ser82Ala)
c.394T>G (p.Ser132Ala)
c.367T>G (p.Ser123Ala)
7g.150958431A>GCA369863364KCNH2n.1377T>C
c.544T>C (p.Ser182Pro)
c.235-39T>C (n.235-39T>C)
n.767T>C
c.244T>C (p.Ser82Pro)
c.394T>C (p.Ser132Pro)
c.367T>C (p.Ser123Pro)
7g.150958431A>TCA369863365KCNH2n.1377T>A
c.544T>A (p.Ser182Thr)
c.235-39T>A (n.235-39T>A)
n.767T>A
c.244T>A (p.Ser82Thr)
c.394T>A (p.Ser132Thr)
c.367T>A (p.Ser123Thr)
7g.150958431_150958438dupCA658797050KCNH2n.1370_1377dup
c.537_544dup (p.Ser182TrpfsTer22)
c.235-46_235-39dup (n.235-46_235-39dup)
n.760_767dup
c.237_244dup (p.Ser82TrpfsTer22)
c.387_394dup (p.Ser132TrpfsTer22)
c.360_367dup (p.Ser123TrpfsTer22)
ClinVar dbSNP
7g.150958432C>ACA458646813KCNH2n.1376G>T
c.543G>T (p.Arg181=)
c.235-40G>T (n.235-40G>T)
n.766G>T
c.243G>T (p.Arg81=)
c.393G>T (p.Arg131=)
c.366G>T (p.Arg122=)
gnomAD v4
7g.150958432C>GCA458646814KCNH2n.1376G>C
c.543G>C (p.Arg181=)
c.235-40G>C (n.235-40G>C)
n.766G>C
c.243G>C (p.Arg81=)
c.393G>C (p.Arg131=)
c.366G>C (p.Arg122=)
7g.150958432C>TCA458646815KCNH2n.1376G>A
c.543G>A (p.Arg181=)
c.235-40G>A (n.235-40G>A)
n.766G>A
c.243G>A (p.Arg81=)
c.393G>A (p.Arg131=)
c.366G>A (p.Arg122=)
ClinVar dbSNP gnomAD v4
7g.150958433_150958434insCCCCA1139770392KCNH2n.1376_1377insGGG
c.543_544insGGG (p.Arg181_Ser182insGly)
c.235-40_235-39insGGG (n.235-40_235-39insGGG)
n.766_767insGGG
c.243_244insGGG (p.Arg81_Ser82insGly)
c.393_394insGGG (p.Arg131_Ser132insGly)
c.366_367insGGG (p.Arg122_Ser123insGly)
7g.150958433C>ACA369863370KCNH2n.1375G>T
c.542G>T (p.Arg181Leu)
c.235-41G>T (n.235-41G>T)
n.765G>T
c.242G>T (p.Arg81Leu)
c.392G>T (p.Arg131Leu)
c.365G>T (p.Arg122Leu)
gnomAD v4
7g.150958433C=CA1752418697KCNH2n.1375G=
c.542G= (p.Arg181=)
c.235-41G= (n.235-41G=)
n.765G=
c.242G= (p.Arg81=)
c.392G= (p.Arg131=)
c.365G= (p.Arg122=)
7g.150958433C>GCA369863372KCNH2n.1375G>C
c.542G>C (p.Arg181Pro)
c.235-41G>C (n.235-41G>C)
n.765G>C
c.242G>C (p.Arg81Pro)
c.392G>C (p.Arg131Pro)
c.365G>C (p.Arg122Pro)
gnomAD v4
7g.150958433C>TCA008563KCNH2n.1375G>A
c.542G>A (p.Arg181Gln)
c.235-41G>A (n.235-41G>A)
n.765G>A
c.242G>A (p.Arg81Gln)
c.392G>A (p.Arg131Gln)
c.365G>A (p.Arg122Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958434G>ACA369863375KCNH2n.1374C>T
c.541C>T (p.Arg181Trp)
c.235-42C>T (n.235-42C>T)
n.764C>T
c.241C>T (p.Arg81Trp)
c.391C>T (p.Arg131Trp)
c.364C>T (p.Arg122Trp)
dbSNP gnomAD v2 gnomAD v4
7g.150958434G>CCA369863376KCNH2n.1374C>G
c.541C>G (p.Arg181Gly)
c.235-42C>G (n.235-42C>G)
n.764C>G
c.241C>G (p.Arg81Gly)
c.391C>G (p.Arg131Gly)
c.364C>G (p.Arg122Gly)
gnomAD v4
7g.150958434G=CA1752418700KCNH2n.1374C=
c.541C= (p.Arg181=)
c.235-42C= (n.235-42C=)
n.764C=
c.241C= (p.Arg81=)
c.391C= (p.Arg131=)
c.364C= (p.Arg122=)
7g.150958434G>TCA458646816KCNH2n.1374C>A
c.541C>A (p.Arg181=)
c.235-42C>A (n.235-42C>A)
n.764C>A
c.241C>A (p.Arg81=)
c.391C>A (p.Arg131=)
c.364C>A (p.Arg122=)
gnomAD v4
7g.150958435C>ACA458646817KCNH2n.1373G>T
c.540G>T (p.Val180=)
c.235-43G>T (n.235-43G>T)
n.763G>T
c.240G>T (p.Val80=)
c.390G>T (p.Val130=)
c.363G>T (p.Val121=)
gnomAD v4
7g.150958435C=CA1752418702KCNH2n.1373G=
c.540G= (p.Val180=)
c.235-43G= (n.235-43G=)
n.763G=
c.240G= (p.Val80=)
c.390G= (p.Val130=)
c.363G= (p.Val121=)
7g.150958435C>GCA458646819KCNH2n.1373G>C
c.540G>C (p.Val180=)
c.235-43G>C (n.235-43G>C)
n.763G>C
c.240G>C (p.Val80=)
c.390G>C (p.Val130=)
c.363G>C (p.Val121=)
7g.150958435C>TCA458646818KCNH2n.1373G>A
c.540G>A (p.Val180=)
c.235-43G>A (n.235-43G>A)
n.763G>A
c.240G>A (p.Val80=)
c.390G>A (p.Val130=)
c.363G>A (p.Val121=)
dbSNP gnomAD v4
7g.150958436A>CCA369863378KCNH2n.1372T>G
c.539T>G (p.Val180Gly)
c.235-44T>G (n.235-44T>G)
n.762T>G
c.239T>G (p.Val80Gly)
c.389T>G (p.Val130Gly)
c.362T>G (p.Val121Gly)
7g.150958436A>GCA369863380KCNH2n.1372T>C
c.539T>C (p.Val180Ala)
c.235-44T>C (n.235-44T>C)
n.762T>C
c.239T>C (p.Val80Ala)
c.389T>C (p.Val130Ala)
c.362T>C (p.Val121Ala)
gnomAD v4
7g.150958436A>TCA369863382KCNH2n.1372T>A
c.539T>A (p.Val180Glu)
c.235-44T>A (n.235-44T>A)
n.762T>A
c.239T>A (p.Val80Glu)
c.389T>A (p.Val130Glu)
c.362T>A (p.Val121Glu)
7g.150958437C>ACA369863384KCNH2n.1371G>T
c.538G>T (p.Val180Leu)
c.235-45G>T (n.235-45G>T)
n.761G>T
c.238G>T (p.Val80Leu)
c.388G>T (p.Val130Leu)
c.361G>T (p.Val121Leu)
7g.150958437C>GCA369863386KCNH2n.1371G>C
c.538G>C (p.Val180Leu)
c.235-45G>C (n.235-45G>C)
n.761G>C
c.238G>C (p.Val80Leu)
c.388G>C (p.Val130Leu)
c.361G>C (p.Val121Leu)
7g.150958437C>TCA369863388KCNH2n.1371G>A
c.538G>A (p.Val180Met)
c.235-45G>A (n.235-45G>A)
n.761G>A
c.238G>A (p.Val80Met)
c.388G>A (p.Val130Met)
c.361G>A (p.Val121Met)
gnomAD v4
7g.150958438C>ACA458646820KCNH2n.1370G>T
c.537G>T (p.Ser179=)
c.235-46G>T (n.235-46G>T)
n.760G>T
c.237G>T (p.Ser79=)
c.387G>T (p.Ser129=)
c.360G>T (p.Ser120=)
gnomAD v4
7g.150958438C>GCA458646821KCNH2n.1370G>C
c.537G>C (p.Ser179=)
c.235-46G>C (n.235-46G>C)
n.760G>C
c.237G>C (p.Ser79=)
c.387G>C (p.Ser129=)
c.360G>C (p.Ser120=)
7g.150958438C>TCA458646822KCNH2n.1370G>A
c.537G>A (p.Ser179=)
c.235-46G>A (n.235-46G>A)
n.760G>A
c.237G>A (p.Ser79=)
c.387G>A (p.Ser129=)
c.360G>A (p.Ser120=)
gnomAD v4
7g.150958438_150958463delinsCGACGACTCCCGGGCCGTCAGCGCCACA1752418705KCNH2n.1345_1370delinsTGGCGCTGACGGCCCGGGAGTCGTCG
c.512_537delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu171=)
c.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG (n.235-71_235-46delinsTGGCGCTGACGGCCCGGGAGTCGTCG)
n.735_760delinsTGGCGCTGACGGCCCGGGAGTCGTCG
c.212_237delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu71=)
c.362_387delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu121=)
c.335_360delinsTGGCGCTGACGGCCCGGGAGTCGTCG (p.Leu112=)
7g.150958439G>ACA369863394KCNH2n.1369C>T
c.536C>T (p.Ser179Leu)
c.235-47C>T (n.235-47C>T)
n.759C>T
c.236C>T (p.Ser79Leu)
c.386C>T (p.Ser129Leu)
c.359C>T (p.Ser120Leu)
ClinVar dbSNP gnomAD v4
7g.150958439G>CCA369863390KCNH2n.1369C>G
c.536C>G (p.Ser179Trp)
c.235-47C>G (n.235-47C>G)
n.759C>G
c.236C>G (p.Ser79Trp)
c.386C>G (p.Ser129Trp)
c.359C>G (p.Ser120Trp)
dbSNP gnomAD v2 gnomAD v4
7g.150958439G=CA1752418709KCNH2n.1369C=
c.536C= (p.Ser179=)
c.235-47C= (n.235-47C=)
n.759C=
c.236C= (p.Ser79=)
c.386C= (p.Ser129=)
c.359C= (p.Ser120=)
7g.150958439G>TCA369863392KCNH2n.1369C>A
c.536C>A (p.Ser179Ter)
c.235-47C>A (n.235-47C>A)
n.759C>A
c.236C>A (p.Ser79Ter)
c.386C>A (p.Ser129Ter)
c.359C>A (p.Ser120Ter)
gnomAD v4
7g.150958440_150958464delCA658797051KCNH2n.1345_1369del
c.512_536del (p.Leu171ArgfsTer22)
c.235-71_235-47del (n.235-71_235-47del)
n.735_759del
c.212_236del (p.Leu71ArgfsTer22)
c.362_386del (p.Leu121ArgfsTer22)
c.335_359del (p.Leu112ArgfsTer22)
ClinVar dbSNP
7g.150958440A>CCA369863396KCNH2n.1368T>G
c.535T>G (p.Ser179Ala)
c.235-48T>G (n.235-48T>G)
n.758T>G
c.235T>G (p.Ser79Ala)
c.385T>G (p.Ser129Ala)
c.358T>G (p.Ser120Ala)
ClinVar dbSNP
7g.150958440A>GCA369863398KCNH2n.1368T>C
c.535T>C (p.Ser179Pro)
c.235-48T>C (n.235-48T>C)
n.758T>C
c.235T>C (p.Ser79Pro)
c.385T>C (p.Ser129Pro)
c.358T>C (p.Ser120Pro)
gnomAD v4
7g.150958440A>TCA369863400KCNH2n.1368T>A
c.535T>A (p.Ser179Thr)
c.235-48T>A (n.235-48T>A)
n.758T>A
c.235T>A (p.Ser79Thr)
c.385T>A (p.Ser129Thr)
c.358T>A (p.Ser120Thr)

Number of alleles fetched