Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150959583_150959586delCA2580614286KCNH2n.1297_1300del
c.464_467del (p.Leu155ProfsTer10)
c.234+53_234+56del (n.234+53_234+56del)
n.687_690del
c.164_167del (p.Leu55ProfsTer10)
c.314_317del (p.Leu105ProfsTer10)
c.287_290del (p.Leu96ProfsTer10)
 ClinVar
7g.150959582C>ACA369863607KCNH2n.1295G>T
c.462G>T (p.Trp154Cys)
c.234+51G>T (n.234+51G>T)
n.685G>T
c.162G>T (p.Trp54Cys)
c.312G>T (p.Trp104Cys)
c.285G>T (p.Trp95Cys)
7g.150959582C>GCA369863608KCNH2n.1295G>C
c.462G>C (p.Trp154Cys)
c.234+51G>C (n.234+51G>C)
n.685G>C
c.162G>C (p.Trp54Cys)
c.312G>C (p.Trp104Cys)
c.285G>C (p.Trp95Cys)
7g.150959582C>TCA369863609KCNH2n.1295G>A
c.462G>A (p.Trp154Ter)
c.234+51G>A (n.234+51G>A)
n.685G>A
c.162G>A (p.Trp54Ter)
c.312G>A (p.Trp104Ter)
c.285G>A (p.Trp95Ter)
 ClinVar
7g.150959583C>ACA369863612KCNH2n.1294G>T
c.461G>T (p.Trp154Leu)
c.234+50G>T (n.234+50G>T)
n.684G>T
c.161G>T (p.Trp54Leu)
c.311G>T (p.Trp104Leu)
c.284G>T (p.Trp95Leu)
7g.150959583C=CA1752419795KCNH2n.1294G=
c.461G= (p.Trp154=)
c.234+50G= (n.234+50G=)
n.684G=
c.161G= (p.Trp54=)
c.311G= (p.Trp104=)
c.284G= (p.Trp95=)
7g.150959583C>GCA369863611KCNH2n.1294G>C
c.461G>C (p.Trp154Ser)
c.234+50G>C (n.234+50G>C)
n.684G>C
c.161G>C (p.Trp54Ser)
c.311G>C (p.Trp104Ser)
c.284G>C (p.Trp95Ser)
7g.150959583C>TCA369863610KCNH2n.1294G>A
c.461G>A (p.Trp154Ter)
c.234+50G>A (n.234+50G>A)
n.684G>A
c.161G>A (p.Trp54Ter)
c.311G>A (p.Trp104Ter)
c.284G>A (p.Trp95Ter)
 ClinVar dbSNP
7g.150959584A=CA1752419798KCNH2n.1293T=
c.460T= (p.Trp154=)
c.234+49T= (n.234+49T=)
n.683T=
c.160T= (p.Trp54=)
c.310T= (p.Trp104=)
c.283T= (p.Trp95=)
7g.150959584A>CCA369863613KCNH2n.1293T>G
c.460T>G (p.Trp154Gly)
c.234+49T>G (n.234+49T>G)
n.683T>G
c.160T>G (p.Trp54Gly)
c.310T>G (p.Trp104Gly)
c.283T>G (p.Trp95Gly)
 gnomAD v4
7g.150959584A>GCA039597KCNH2n.1293T>C
c.460T>C (p.Trp154Arg)
c.234+49T>C (n.234+49T>C)
n.683T>C
c.160T>C (p.Trp54Arg)
c.310T>C (p.Trp104Arg)
c.283T>C (p.Trp95Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959584A>TCA369863614KCNH2n.1293T>A
c.460T>A (p.Trp154Arg)
c.234+49T>A (n.234+49T>A)
n.683T>A
c.160T>A (p.Trp54Arg)
c.310T>A (p.Trp104Arg)
c.283T>A (p.Trp95Arg)
7g.150959584_150959605delinsAGCTGGTGGGGGGGCCCCGGTGCA1752419800KCNH2n.1272_1293delinsCACCGGGGCCCCCCCACCAGCT
c.439_460delinsCACCGGGGCCCCCCCACCAGCT (p.His147=)
c.234+28_234+49delinsCACCGGGGCCCCCCCACCAGCT (n.234+28_234+49delinsCACCGGGGCCCCCCCACCAGCT)
n.662_683delinsCACCGGGGCCCCCCCACCAGCT
c.139_160delinsCACCGGGGCCCCCCCACCAGCT (p.His47=)
c.289_310delinsCACCGGGGCCCCCCCACCAGCT (p.His97=)
c.262_283delinsCACCGGGGCCCCCCCACCAGCT (p.His88=)
7g.150959585G>ACA039563KCNH2n.1292C>T
c.459C>T (p.Ser153=)
c.234+48C>T (n.234+48C>T)
n.682C>T
c.159C>T (p.Ser53=)
c.309C>T (p.Ser103=)
c.282C>T (p.Ser94=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959585G>CCA369863615KCNH2n.1292C>G
c.459C>G (p.Ser153Arg)
c.234+48C>G (n.234+48C>G)
n.682C>G
c.159C>G (p.Ser53Arg)
c.309C>G (p.Ser103Arg)
c.282C>G (p.Ser94Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959585G=CA1752419805KCNH2n.1292C=
c.459C= (p.Ser153=)
c.234+48C= (n.234+48C=)
n.682C=
c.159C= (p.Ser53=)
c.309C= (p.Ser103=)
c.282C= (p.Ser94=)
7g.150959585G>TCA369863616KCNH2n.1292C>A
c.459C>A (p.Ser153Arg)
c.234+48C>A (n.234+48C>A)
n.682C>A
c.159C>A (p.Ser53Arg)
c.309C>A (p.Ser103Arg)
c.282C>A (p.Ser94Arg)
7g.150959586_150959606delCA579075484KCNH2n.1272_1292del
c.439_459del (p.His147_Ser153del)
c.234+28_234+48del (n.234+28_234+48del)
n.662_682del
c.139_159del (p.His47_Ser53del)
c.289_309del (p.His97_Ser103del)
c.262_282del (p.His88_Ser94del)
 dbSNP gnomAD v2 gnomAD v4
7g.150959586C>ACA369863617KCNH2n.1291G>T
c.458G>T (p.Ser153Ile)
c.234+47G>T (n.234+47G>T)
n.681G>T
c.158G>T (p.Ser53Ile)
c.308G>T (p.Ser103Ile)
c.281G>T (p.Ser94Ile)
7g.150959586C>GCA369863618KCNH2n.1291G>C
c.458G>C (p.Ser153Thr)
c.234+47G>C (n.234+47G>C)
n.681G>C
c.158G>C (p.Ser53Thr)
c.308G>C (p.Ser103Thr)
c.281G>C (p.Ser94Thr)
7g.150959586C>TCA369863619KCNH2n.1291G>A
c.458G>A (p.Ser153Asn)
c.234+47G>A (n.234+47G>A)
n.681G>A
c.158G>A (p.Ser53Asn)
c.308G>A (p.Ser103Asn)
c.281G>A (p.Ser94Asn)
7g.150959587T>ACA369863620KCNH2n.1290A>T
c.457A>T (p.Ser153Cys)
c.234+46A>T (n.234+46A>T)
n.680A>T
c.157A>T (p.Ser53Cys)
c.307A>T (p.Ser103Cys)
c.280A>T (p.Ser94Cys)
7g.150959587T>CCA369863621KCNH2n.1290A>G
c.457A>G (p.Ser153Gly)
c.234+46A>G (n.234+46A>G)
n.680A>G
c.157A>G (p.Ser53Gly)
c.307A>G (p.Ser103Gly)
c.280A>G (p.Ser94Gly)
7g.150959587T>GCA369863622KCNH2n.1290A>C
c.457A>C (p.Ser153Arg)
c.234+46A>C (n.234+46A>C)
n.680A>C
c.157A>C (p.Ser53Arg)
c.307A>C (p.Ser103Arg)
c.280A>C (p.Ser94Arg)
7g.150959587_150959649delinsTGGTGGGGGGGCCCCGGTGGTTGGTGTCATGAGCCGGGGACCCCACCATGTCCTTCTCCATCACA1752419809KCNH2n.1228_1290delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA
c.395_457delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val132=)
c.218_234+46delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA
n.618_680delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA
c.95_157delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val32=)
c.245_307delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val82=)
c.218_280delinsTGATGGAGAAGGACATGGTGGGGTCCCCGGCTCATGACACCAACCACCGGGGCCCCCCCACCA (p.Val73=)
7g.150959588G>ACA458646889KCNH2n.1289C>T
c.456C>T (p.Thr152=)
c.234+45C>T (n.234+45C>T)
n.679C>T
c.156C>T (p.Thr52=)
c.306C>T (p.Thr102=)
c.279C>T (p.Thr93=)
7g.150959588G>CCA458646890KCNH2n.1289C>G
c.456C>G (p.Thr152=)
c.234+45C>G (n.234+45C>G)
n.679C>G
c.156C>G (p.Thr52=)
c.306C>G (p.Thr102=)
c.279C>G (p.Thr93=)
7g.150959588G>TCA458646891KCNH2n.1289C>A
c.456C>A (p.Thr152=)
c.234+45C>A (n.234+45C>A)
n.679C>A
c.156C>A (p.Thr52=)
c.306C>A (p.Thr102=)
c.279C>A (p.Thr93=)
7g.150959588_150959649delCA16618415KCNH2n.1228_1289del
c.395_456del (p.Val132GlufsTer?)
c.218_234+45del
n.618_679del
c.95_156del (p.Val32GlufsTer?)
c.245_306del (p.Val82GlufsTer?)
c.218_279del (p.Val73GlufsTer?)
 ClinVar dbSNP
7g.150959589G>ACA369863623KCNH2n.1288C>T
c.455C>T (p.Thr152Ile)
c.234+44C>T (n.234+44C>T)
n.678C>T
c.155C>T (p.Thr52Ile)
c.305C>T (p.Thr102Ile)
c.278C>T (p.Thr93Ile)
 ClinVar dbSNP gnomAD v4
7g.150959589G>CCA008479KCNH2n.1288C>G
c.455C>G (p.Thr152Ser)
c.234+44C>G (n.234+44C>G)
n.678C>G
c.155C>G (p.Thr52Ser)
c.305C>G (p.Thr102Ser)
c.278C>G (p.Thr93Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959589G=CA1752419819KCNH2n.1288C=
c.455C= (p.Thr152=)
c.234+44C= (n.234+44C=)
n.678C=
c.155C= (p.Thr52=)
c.305C= (p.Thr102=)
c.278C= (p.Thr93=)
7g.150959589G>TCA369863624KCNH2n.1288C>A
c.455C>A (p.Thr152Asn)
c.234+44C>A (n.234+44C>A)
n.678C>A
c.155C>A (p.Thr52Asn)
c.305C>A (p.Thr102Asn)
c.278C>A (p.Thr93Asn)
7g.150959590T>ACA369863627KCNH2n.1287A>T
c.454A>T (p.Thr152Ser)
c.234+43A>T (n.234+43A>T)
n.677A>T
c.154A>T (p.Thr52Ser)
c.304A>T (p.Thr102Ser)
c.277A>T (p.Thr93Ser)
7g.150959590T>CCA369863625KCNH2n.1287A>G
c.454A>G (p.Thr152Ala)
c.234+43A>G (n.234+43A>G)
n.677A>G
c.154A>G (p.Thr52Ala)
c.304A>G (p.Thr102Ala)
c.277A>G (p.Thr93Ala)
7g.150959590T>GCA369863626KCNH2n.1287A>C
c.454A>C (p.Thr152Pro)
c.234+43A>C (n.234+43A>C)
n.677A>C
c.154A>C (p.Thr52Pro)
c.304A>C (p.Thr102Pro)
c.277A>C (p.Thr93Pro)
7g.150959590_150959591delinsTGCA1752419824KCNH2n.1286_1287delinsCA
c.453_454delinsCA (p.Pro151=)
c.234+42_234+43delinsCA (n.234+42_234+43delinsCA)
n.676_677delinsCA
c.153_154delinsCA (p.Pro51=)
c.303_304delinsCA (p.Pro101=)
c.276_277delinsCA (p.Pro92=)
7g.150959591G>ACA458646892KCNH2n.1286C>T
c.453C>T (p.Pro151=)
c.234+42C>T (n.234+42C>T)
n.676C>T
c.153C>T (p.Pro51=)
c.303C>T (p.Pro101=)
c.276C>T (p.Pro92=)
 ClinVar gnomAD v4
7g.150959591G>CCA458646893KCNH2n.1286C>G
c.453C>G (p.Pro151=)
c.234+42C>G (n.234+42C>G)
n.676C>G
c.153C>G (p.Pro51=)
c.303C>G (p.Pro101=)
c.276C>G (p.Pro92=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150959591G=CA1752419834KCNH2n.1286C=
c.453C= (p.Pro151=)
c.234+42C= (n.234+42C=)
n.676C=
c.153C= (p.Pro51=)
c.303C= (p.Pro101=)
c.276C= (p.Pro92=)
7g.150959591G>TCA458646894KCNH2n.1286C>A
c.453C>A (p.Pro151=)
c.234+42C>A (n.234+42C>A)
n.676C>A
c.153C>A (p.Pro51=)
c.303C>A (p.Pro101=)
c.276C>A (p.Pro92=)
 dbSNP gnomAD v2 gnomAD v4
7g.150959597dupCA4566439KCNH2n.1286dup
c.453dup (p.Thr152HisfsTer?)
c.234+42dup (n.234+42dup)
n.676dup
c.153dup (p.Thr52HisfsTer?)
c.303dup (p.Thr102HisfsTer?)
c.276dup (p.Thr93HisfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.150959596_150959597dupCA2695208659KCNH2n.1285_1286dup
c.452_453dup (p.Thr152ProfsTer15)
c.234+41_234+42dup (n.234+41_234+42dup)
n.675_676dup
c.152_153dup (p.Thr52ProfsTer15)
c.302_303dup (p.Thr102ProfsTer15)
c.275_276dup (p.Thr93ProfsTer15)
7g.150959597delCA008472KCNH2n.1286del
c.453del (p.Thr152ProfsTer14)
c.234+42del (n.234+42del)
n.676del
c.153del (p.Thr52ProfsTer14)
c.303del (p.Thr102ProfsTer14)
c.276del (p.Thr93ProfsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150959591_150959592insCCA458646895KCNH2n.1285_1286insG
c.452_453insG (p.Thr152HisfsTer?)
c.234+41_234+42insG (n.234+41_234+42insG)
n.675_676insG
c.152_153insG (p.Thr52HisfsTer?)
c.302_303insG (p.Thr102HisfsTer?)
c.275_276insG (p.Thr93HisfsTer?)
7g.150959592G>ACA369863628KCNH2n.1285C>T
c.452C>T (p.Pro151Leu)
c.234+41C>T (n.234+41C>T)
n.675C>T
c.152C>T (p.Pro51Leu)
c.302C>T (p.Pro101Leu)
c.275C>T (p.Pro92Leu)
 gnomAD v4
7g.150959592G>CCA369863629KCNH2n.1285C>G
c.452C>G (p.Pro151Arg)
c.234+41C>G (n.234+41C>G)
n.675C>G
c.152C>G (p.Pro51Arg)
c.302C>G (p.Pro101Arg)
c.275C>G (p.Pro92Arg)
7g.150959592G>TCA369863630KCNH2n.1285C>A
c.452C>A (p.Pro151His)
c.234+41C>A (n.234+41C>A)
n.675C>A
c.152C>A (p.Pro51His)
c.302C>A (p.Pro101His)
c.275C>A (p.Pro92His)
 COSMIC COSMIC
7g.150959593G>ACA369863631KCNH2n.1284C>T
c.451C>T (p.Pro151Ser)
c.234+40C>T (n.234+40C>T)
n.674C>T
c.151C>T (p.Pro51Ser)
c.301C>T (p.Pro101Ser)
c.274C>T (p.Pro92Ser)
 ClinVar dbSNP gnomAD v4
7g.150959593G>CCA16612319KCNH2n.1284C>G
c.451C>G (p.Pro151Ala)
c.234+40C>G (n.234+40C>G)
n.674C>G
c.151C>G (p.Pro51Ala)
c.301C>G (p.Pro101Ala)
c.274C>G (p.Pro92Ala)
 ClinVar dbSNP gnomAD v4
7g.150959593G=CA1752419842KCNH2n.1284C=
c.451C= (p.Pro151=)
c.234+40C= (n.234+40C=)
n.674C=
c.151C= (p.Pro51=)
c.301C= (p.Pro101=)
c.274C= (p.Pro92=)
7g.150959593G>TCA369863632KCNH2n.1284C>A
c.451C>A (p.Pro151Thr)
c.234+40C>A (n.234+40C>A)
n.674C>A
c.151C>A (p.Pro51Thr)
c.301C>A (p.Pro101Thr)
c.274C>A (p.Pro92Thr)
7g.150959594G>ACA458646896KCNH2n.1283C>T
c.450C>T (p.Pro150=)
c.234+39C>T (n.234+39C>T)
n.673C>T
c.150C>T (p.Pro50=)
c.300C>T (p.Pro100=)
c.273C>T (p.Pro91=)
7g.150959594G>CCA458646897KCNH2n.1283C>G
c.450C>G (p.Pro150=)
c.234+39C>G (n.234+39C>G)
n.673C>G
c.150C>G (p.Pro50=)
c.300C>G (p.Pro100=)
c.273C>G (p.Pro91=)
7g.150959594G>TCA458646898KCNH2n.1283C>A
c.450C>A (p.Pro150=)
c.234+39C>A (n.234+39C>A)
n.673C>A
c.150C>A (p.Pro50=)
c.300C>A (p.Pro100=)
c.273C>A (p.Pro91=)
7g.150959595G>ACA169082097KCNH2n.1282C>T
c.449C>T (p.Pro150Leu)
c.234+38C>T (n.234+38C>T)
n.672C>T
c.149C>T (p.Pro50Leu)
c.299C>T (p.Pro100Leu)
c.272C>T (p.Pro91Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959595G>CCA369863633KCNH2n.1282C>G
c.449C>G (p.Pro150Arg)
c.234+38C>G (n.234+38C>G)
n.672C>G
c.149C>G (p.Pro50Arg)
c.299C>G (p.Pro100Arg)
c.272C>G (p.Pro91Arg)
7g.150959595G=CA1752419845KCNH2n.1282C=
c.449C= (p.Pro150=)
c.234+38C= (n.234+38C=)
n.672C=
c.149C= (p.Pro50=)
c.299C= (p.Pro100=)
c.272C= (p.Pro91=)
7g.150959595G>TCA369863634KCNH2n.1282C>A
c.449C>A (p.Pro150His)
c.234+38C>A (n.234+38C>A)
n.672C>A
c.149C>A (p.Pro50His)
c.299C>A (p.Pro100His)
c.272C>A (p.Pro91His)
7g.150959596G>ACA351723KCNH2n.1281C>T
c.448C>T (p.Pro150Ser)
c.234+37C>T (n.234+37C>T)
n.671C>T
c.148C>T (p.Pro50Ser)
c.298C>T (p.Pro100Ser)
c.271C>T (p.Pro91Ser)
 ClinVar dbSNP gnomAD v4
7g.150959596G>CCA369863636KCNH2n.1281C>G
c.448C>G (p.Pro150Ala)
c.234+37C>G (n.234+37C>G)
n.671C>G
c.148C>G (p.Pro50Ala)
c.298C>G (p.Pro100Ala)
c.271C>G (p.Pro91Ala)
7g.150959596G=CA1752419850KCNH2n.1281C=
c.448C= (p.Pro150=)
c.234+37C= (n.234+37C=)
n.671C=
c.148C= (p.Pro50=)
c.298C= (p.Pro100=)
c.271C= (p.Pro91=)
7g.150959596G>TCA369863635KCNH2n.1281C>A
c.448C>A (p.Pro150Thr)
c.234+37C>A (n.234+37C>A)
n.671C>A
c.148C>A (p.Pro50Thr)
c.298C>A (p.Pro100Thr)
c.271C>A (p.Pro91Thr)
 gnomAD v4
7g.150959597G>ACA169082114KCNH2n.1280C>T
c.447C>T (p.Gly149=)
c.234+36C>T (n.234+36C>T)
n.670C>T
c.147C>T (p.Gly49=)
c.297C>T (p.Gly99=)
c.270C>T (p.Gly90=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959597G>CCA458646899KCNH2n.1280C>G
c.447C>G (p.Gly149=)
c.234+36C>G (n.234+36C>G)
n.670C>G
c.147C>G (p.Gly49=)
c.297C>G (p.Gly99=)
c.270C>G (p.Gly90=)
 dbSNP gnomAD v2 gnomAD v4
7g.150959597G=CA1752419854KCNH2n.1280C=
c.447C= (p.Gly149=)
c.234+36C= (n.234+36C=)
n.670C=
c.147C= (p.Gly49=)
c.297C= (p.Gly99=)
c.270C= (p.Gly90=)
7g.150959597G>TCA458646900KCNH2n.1280C>A
c.447C>A (p.Gly149=)
c.234+36C>A (n.234+36C>A)
n.670C>A
c.147C>A (p.Gly49=)
c.297C>A (p.Gly99=)
c.270C>A (p.Gly90=)
7g.150959598C>ACA039520KCNH2n.1279G>T
c.446G>T (p.Gly149Val)
c.234+35G>T (n.234+35G>T)
n.669G>T
c.146G>T (p.Gly49Val)
c.296G>T (p.Gly99Val)
c.269G>T (p.Gly90Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959598C=CA1752419861KCNH2n.1279G=
c.446G= (p.Gly149=)
c.234+35G= (n.234+35G=)
n.669G=
c.146G= (p.Gly49=)
c.296G= (p.Gly99=)
c.269G= (p.Gly90=)
7g.150959598C>GCA008457KCNH2n.1279G>C
c.446G>C (p.Gly149Ala)
c.234+35G>C (n.234+35G>C)
n.669G>C
c.146G>C (p.Gly49Ala)
c.296G>C (p.Gly99Ala)
c.269G>C (p.Gly90Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150959598C>TCA369863637KCNH2n.1279G>A
c.446G>A (p.Gly149Asp)
c.234+35G>A (n.234+35G>A)
n.669G>A
c.146G>A (p.Gly49Asp)
c.296G>A (p.Gly99Asp)
c.269G>A (p.Gly90Asp)
 ClinVar dbSNP
7g.150959601dupCA913187616KCNH2n.1279dup
c.446dup (p.Thr152HisfsTer?)
c.234+35dup (n.234+35dup)
n.669dup
c.146dup (p.Thr52HisfsTer?)
c.296dup (p.Thr102HisfsTer?)
c.269dup (p.Thr93HisfsTer?)
7g.150959601delCA2685610088KCNH2n.1279del
c.446del (p.Gly149AlafsTer17)
c.234+35del (n.234+35del)
n.669del
c.146del (p.Gly49AlafsTer17)
c.296del (p.Gly99AlafsTer17)
c.269del (p.Gly90AlafsTer17)
 gnomAD v4
7g.150959598_150959599insGCA2695208661KCNH2n.1278_1279insC
c.445_446insC (p.Gly149AlafsTer?)
c.234+34_234+35insC (n.234+34_234+35insC)
n.668_669insC
c.145_146insC (p.Gly49AlafsTer?)
c.295_296insC (p.Gly99AlafsTer?)
c.268_269insC (p.Gly90AlafsTer?)
7g.150959599C>ACA369863638KCNH2n.1278G>T
c.445G>T (p.Gly149Cys)
c.234+34G>T (n.234+34G>T)
n.668G>T
c.145G>T (p.Gly49Cys)
c.295G>T (p.Gly99Cys)
c.268G>T (p.Gly90Cys)
7g.150959599C>GCA369863639KCNH2n.1278G>C
c.445G>C (p.Gly149Arg)
c.234+34G>C (n.234+34G>C)
n.668G>C
c.145G>C (p.Gly49Arg)
c.295G>C (p.Gly99Arg)
c.268G>C (p.Gly90Arg)
 ClinVar dbSNP
7g.150959599C>TCA369863640KCNH2n.1278G>A
c.445G>A (p.Gly149Ser)
c.234+34G>A (n.234+34G>A)
n.668G>A
c.145G>A (p.Gly49Ser)
c.295G>A (p.Gly99Ser)
c.268G>A (p.Gly90Ser)
 gnomAD v4
7g.150959600C>ACA458646901KCNH2n.1277G>T
c.444G>T (p.Arg148=)
c.234+33G>T (n.234+33G>T)
n.667G>T
c.144G>T (p.Arg48=)
c.294G>T (p.Arg98=)
c.267G>T (p.Arg89=)
7g.150959600C>GCA458646903KCNH2n.1277G>C
c.444G>C (p.Arg148=)
c.234+33G>C (n.234+33G>C)
n.667G>C
c.144G>C (p.Arg48=)
c.294G>C (p.Arg98=)
c.267G>C (p.Arg89=)
7g.150959600C>TCA458646902KCNH2n.1277G>A
c.444G>A (p.Arg148=)
c.234+33G>A (n.234+33G>A)
n.667G>A
c.144G>A (p.Arg48=)
c.294G>A (p.Arg98=)
c.267G>A (p.Arg89=)
7g.150959601C>ACA369863642KCNH2n.1276G>T
c.443G>T (p.Arg148Leu)
c.234+32G>T (n.234+32G>T)
n.666G>T
c.143G>T (p.Arg48Leu)
c.293G>T (p.Arg98Leu)
c.266G>T (p.Arg89Leu)
7g.150959601C=CA1752419867KCNH2n.1276G=
c.443G= (p.Arg148=)
c.234+32G= (n.234+32G=)
n.666G=
c.143G= (p.Arg48=)
c.293G= (p.Arg98=)
c.266G= (p.Arg89=)
7g.150959601C>GCA369863641KCNH2n.1276G>C
c.443G>C (p.Arg148Pro)
c.234+32G>C (n.234+32G>C)
n.666G>C
c.143G>C (p.Arg48Pro)
c.293G>C (p.Arg98Pro)
c.266G>C (p.Arg89Pro)
7g.150959601C>TCA039494KCNH2n.1276G>A
c.443G>A (p.Arg148Gln)
c.234+32G>A (n.234+32G>A)
n.666G>A
c.143G>A (p.Arg48Gln)
c.293G>A (p.Arg98Gln)
c.266G>A (p.Arg89Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959602G>ACA008448KCNH2n.1275C>T
c.442C>T (p.Arg148Trp)
c.234+31C>T (n.234+31C>T)
n.665C>T
c.142C>T (p.Arg48Trp)
c.292C>T (p.Arg98Trp)
c.265C>T (p.Arg89Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959602G>CCA369863643KCNH2n.1275C>G
c.442C>G (p.Arg148Gly)
c.234+31C>G (n.234+31C>G)
n.665C>G
c.142C>G (p.Arg48Gly)
c.292C>G (p.Arg98Gly)
c.265C>G (p.Arg89Gly)
7g.150959602G=CA1752419871KCNH2n.1275C=
c.442C= (p.Arg148=)
c.234+31C= (n.234+31C=)
n.665C=
c.142C= (p.Arg48=)
c.292C= (p.Arg98=)
c.265C= (p.Arg89=)
7g.150959602G>TCA458646904KCNH2n.1275C>A
c.442C>A (p.Arg148=)
c.234+31C>A (n.234+31C>A)
n.665C>A
c.142C>A (p.Arg48=)
c.292C>A (p.Arg98=)
c.265C>A (p.Arg89=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959603G>ACA039456KCNH2n.1274C>T
c.441C>T (p.His147=)
c.234+30C>T (n.234+30C>T)
n.664C>T
c.141C>T (p.His47=)
c.291C>T (p.His97=)
c.264C>T (p.His88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959603G>CCA369863644KCNH2n.1274C>G
c.441C>G (p.His147Gln)
c.234+30C>G (n.234+30C>G)
n.664C>G
c.141C>G (p.His47Gln)
c.291C>G (p.His97Gln)
c.264C>G (p.His88Gln)
7g.150959603G=CA1752419875KCNH2n.1274C=
c.441C= (p.His147=)
c.234+30C= (n.234+30C=)
n.664C=
c.141C= (p.His47=)
c.291C= (p.His97=)
c.264C= (p.His88=)
7g.150959603G>TCA369863645KCNH2n.1274C>A
c.441C>A (p.His147Gln)
c.234+30C>A (n.234+30C>A)
n.664C>A
c.141C>A (p.His47Gln)
c.291C>A (p.His97Gln)
c.264C>A (p.His88Gln)
7g.150959604T>ACA369863646KCNH2n.1273A>T
c.440A>T (p.His147Leu)
c.234+29A>T (n.234+29A>T)
n.663A>T
c.140A>T (p.His47Leu)
c.290A>T (p.His97Leu)
c.263A>T (p.His88Leu)
7g.150959604T>CCA008440KCNH2n.1273A>G
c.440A>G (p.His147Arg)
c.234+29A>G (n.234+29A>G)
n.663A>G
c.140A>G (p.His47Arg)
c.290A>G (p.His97Arg)
c.263A>G (p.His88Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959604T>GCA369863647KCNH2n.1273A>C
c.440A>C (p.His147Pro)
c.234+29A>C (n.234+29A>C)
n.663A>C
c.140A>C (p.His47Pro)
c.290A>C (p.His97Pro)
c.263A>C (p.His88Pro)
7g.150959604T=CA1752419877KCNH2n.1273A=
c.440A= (p.His147=)
c.234+29A= (n.234+29A=)
n.663A=
c.140A= (p.His47=)
c.290A= (p.His97=)
c.263A= (p.His88=)
7g.150959605G>ACA369863648KCNH2n.1272C>T
c.439C>T (p.His147Tyr)
c.234+28C>T (n.234+28C>T)
n.662C>T
c.139C>T (p.His47Tyr)
c.289C>T (p.His97Tyr)
c.262C>T (p.His88Tyr)
 ClinVar
7g.150959605G>CCA369863649KCNH2n.1272C>G
c.439C>G (p.His147Asp)
c.234+28C>G (n.234+28C>G)
n.662C>G
c.139C>G (p.His47Asp)
c.289C>G (p.His97Asp)
c.262C>G (p.His88Asp)
7g.150959605G>TCA369863650KCNH2n.1272C>A
c.439C>A (p.His147Asn)
c.234+28C>A (n.234+28C>A)
n.662C>A
c.139C>A (p.His47Asn)
c.289C>A (p.His97Asn)
c.262C>A (p.His88Asn)
7g.150959606G>ACA458646905KCNH2n.1271C>T
c.438C>T (p.Asn146=)
c.234+27C>T (n.234+27C>T)
n.661C>T
c.138C>T (p.Asn46=)
c.288C>T (p.Asn96=)
c.261C>T (p.Asn87=)
7g.150959606G>CCA369863651KCNH2n.1271C>G
c.438C>G (p.Asn146Lys)
c.234+27C>G (n.234+27C>G)
n.661C>G
c.138C>G (p.Asn46Lys)
c.288C>G (p.Asn96Lys)
c.261C>G (p.Asn87Lys)
 gnomAD v4
7g.150959606G=CA1752419879KCNH2n.1271C=
c.438C= (p.Asn146=)
c.234+27C= (n.234+27C=)
n.661C=
c.138C= (p.Asn46=)
c.288C= (p.Asn96=)
c.261C= (p.Asn87=)
7g.150959606G>TCA369863652KCNH2n.1271C>A
c.438C>A (p.Asn146Lys)
c.234+27C>A (n.234+27C>A)
n.661C>A
c.138C>A (p.Asn46Lys)
c.288C>A (p.Asn96Lys)
c.261C>A (p.Asn87Lys)
 dbSNP
7g.150959607T>ACA369863653KCNH2n.1270A>T
c.437A>T (p.Asn146Ile)
c.234+26A>T (n.234+26A>T)
n.660A>T
c.137A>T (p.Asn46Ile)
c.287A>T (p.Asn96Ile)
c.260A>T (p.Asn87Ile)
 gnomAD v4
7g.150959607T>CCA369863654KCNH2n.1270A>G
c.437A>G (p.Asn146Ser)
c.234+26A>G (n.234+26A>G)
n.660A>G
c.137A>G (p.Asn46Ser)
c.287A>G (p.Asn96Ser)
c.260A>G (p.Asn87Ser)
7g.150959607T>GCA369863655KCNH2n.1270A>C
c.437A>C (p.Asn146Thr)
c.234+26A>C (n.234+26A>C)
n.660A>C
c.137A>C (p.Asn46Thr)
c.287A>C (p.Asn96Thr)
c.260A>C (p.Asn87Thr)
7g.150959608T>ACA369863656KCNH2n.1269A>T
c.436A>T (p.Asn146Tyr)
c.234+25A>T (n.234+25A>T)
n.659A>T
c.136A>T (p.Asn46Tyr)
c.286A>T (p.Asn96Tyr)
c.259A>T (p.Asn87Tyr)
 gnomAD v4
7g.150959608T>CCA369863657KCNH2n.1269A>G
c.436A>G (p.Asn146Asp)
c.234+25A>G (n.234+25A>G)
n.659A>G
c.136A>G (p.Asn46Asp)
c.286A>G (p.Asn96Asp)
c.259A>G (p.Asn87Asp)
 dbSNP gnomAD v3 gnomAD v4
7g.150959608T>GCA369863658KCNH2n.1269A>C
c.436A>C (p.Asn146His)
c.234+25A>C (n.234+25A>C)
n.659A>C
c.136A>C (p.Asn46His)
c.286A>C (p.Asn96His)
c.259A>C (p.Asn87His)
7g.150959608T=CA1752419882KCNH2n.1269A=
c.436A= (p.Asn146=)
c.234+25A= (n.234+25A=)
n.659A=
c.136A= (p.Asn46=)
c.286A= (p.Asn96=)
c.259A= (p.Asn87=)
7g.150959609G>ACA169082123KCNH2n.1268C>T
c.435C>T (p.Thr145=)
c.234+24C>T (n.234+24C>T)
n.658C>T
c.135C>T (p.Thr45=)
c.285C>T (p.Thr95=)
c.258C>T (p.Thr86=)
 ClinVar dbSNP gnomAD v4
7g.150959609G>CCA458646906KCNH2n.1268C>G
c.435C>G (p.Thr145=)
c.234+24C>G (n.234+24C>G)
n.658C>G
c.135C>G (p.Thr45=)
c.285C>G (p.Thr95=)
c.258C>G (p.Thr86=)
7g.150959609G=CA1752419887KCNH2n.1268C=
c.435C= (p.Thr145=)
c.234+24C= (n.234+24C=)
n.658C=
c.135C= (p.Thr45=)
c.285C= (p.Thr95=)
c.258C= (p.Thr86=)
7g.150959609G>TCA458646907KCNH2n.1268C>A
c.435C>A (p.Thr145=)
c.234+24C>A (n.234+24C>A)
n.658C>A
c.135C>A (p.Thr45=)
c.285C>A (p.Thr95=)
c.258C>A (p.Thr86=)
7g.150959610G>ACA369863661KCNH2n.1267C>T
c.434C>T (p.Thr145Ile)
c.234+23C>T (n.234+23C>T)
n.657C>T
c.134C>T (p.Thr45Ile)
c.284C>T (p.Thr95Ile)
c.257C>T (p.Thr86Ile)
 ClinVar dbSNP gnomAD v4
7g.150959610G>CCA369863660KCNH2n.1267C>G
c.434C>G (p.Thr145Ser)
c.234+23C>G (n.234+23C>G)
n.657C>G
c.134C>G (p.Thr45Ser)
c.284C>G (p.Thr95Ser)
c.257C>G (p.Thr86Ser)
7g.150959610G=CA1752419890KCNH2n.1267C=
c.434C= (p.Thr145=)
c.234+23C= (n.234+23C=)
n.657C=
c.134C= (p.Thr45=)
c.284C= (p.Thr95=)
c.257C= (p.Thr86=)
7g.150959610G>TCA369863659KCNH2n.1267C>A
c.434C>A (p.Thr145Asn)
c.234+23C>A (n.234+23C>A)
n.657C>A
c.134C>A (p.Thr45Asn)
c.284C>A (p.Thr95Asn)
c.257C>A (p.Thr86Asn)
7g.150959611T>ACA369863663KCNH2n.1266A>T
c.433A>T (p.Thr145Ser)
c.234+22A>T (n.234+22A>T)
n.656A>T
c.133A>T (p.Thr45Ser)
c.283A>T (p.Thr95Ser)
c.256A>T (p.Thr86Ser)
7g.150959611T>CCA369863662KCNH2n.1266A>G
c.433A>G (p.Thr145Ala)
c.234+22A>G (n.234+22A>G)
n.656A>G
c.133A>G (p.Thr45Ala)
c.283A>G (p.Thr95Ala)
c.256A>G (p.Thr86Ala)
 gnomAD v4
7g.150959611T>GCA369863664KCNH2n.1266A>C
c.433A>C (p.Thr145Pro)
c.234+22A>C (n.234+22A>C)
n.656A>C
c.133A>C (p.Thr45Pro)
c.283A>C (p.Thr95Pro)
c.256A>C (p.Thr86Pro)
7g.150959612G>ACA039409KCNH2n.1265C>T
c.432C>T (p.Asp144=)
c.234+21C>T (n.234+21C>T)
n.655C>T
c.132C>T (p.Asp44=)
c.282C>T (p.Asp94=)
c.255C>T (p.Asp85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959612G>CCA369863665KCNH2n.1265C>G
c.432C>G (p.Asp144Glu)
c.234+21C>G (n.234+21C>G)
n.655C>G
c.132C>G (p.Asp44Glu)
c.282C>G (p.Asp94Glu)
c.255C>G (p.Asp85Glu)
7g.150959612G=CA1752419897KCNH2n.1265C=
c.432C= (p.Asp144=)
c.234+21C= (n.234+21C=)
n.655C=
c.132C= (p.Asp44=)
c.282C= (p.Asp94=)
c.255C= (p.Asp85=)
7g.150959612G>TCA369863666KCNH2n.1265C>A
c.432C>A (p.Asp144Glu)
c.234+21C>A (n.234+21C>A)
n.655C>A
c.132C>A (p.Asp44Glu)
c.282C>A (p.Asp94Glu)
c.255C>A (p.Asp85Glu)
7g.150959613T>ACA039396KCNH2n.1264A>T
c.431A>T (p.Asp144Val)
c.234+20A>T (n.234+20A>T)
n.654A>T
c.131A>T (p.Asp44Val)
c.281A>T (p.Asp94Val)
c.254A>T (p.Asp85Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959613T>CCA369863667KCNH2n.1264A>G
c.431A>G (p.Asp144Gly)
c.234+20A>G (n.234+20A>G)
n.654A>G
c.131A>G (p.Asp44Gly)
c.281A>G (p.Asp94Gly)
c.254A>G (p.Asp85Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.150959613T>GCA369863668KCNH2n.1264A>C
c.431A>C (p.Asp144Ala)
c.234+20A>C (n.234+20A>C)
n.654A>C
c.131A>C (p.Asp44Ala)
c.281A>C (p.Asp94Ala)
c.254A>C (p.Asp85Ala)
7g.150959613T=CA1752419899KCNH2n.1264A=
c.431A= (p.Asp144=)
c.234+20A= (n.234+20A=)
n.654A=
c.131A= (p.Asp44=)
c.281A= (p.Asp94=)
c.254A= (p.Asp85=)
7g.150959614C>ACA369863669KCNH2n.1263G>T
c.430G>T (p.Asp144Tyr)
c.234+19G>T (n.234+19G>T)
n.653G>T
c.130G>T (p.Asp44Tyr)
c.280G>T (p.Asp94Tyr)
c.253G>T (p.Asp85Tyr)
 COSMIC COSMIC
7g.150959614C>GCA369863670KCNH2n.1263G>C
c.430G>C (p.Asp144His)
c.234+19G>C (n.234+19G>C)
n.653G>C
c.130G>C (p.Asp44His)
c.280G>C (p.Asp94His)
c.253G>C (p.Asp85His)
7g.150959614C>TCA369863671KCNH2n.1263G>A
c.430G>A (p.Asp144Asn)
c.234+19G>A (n.234+19G>A)
n.653G>A
c.130G>A (p.Asp44Asn)
c.280G>A (p.Asp94Asn)
c.253G>A (p.Asp85Asn)
 gnomAD v4
7g.150959615A>CCA369863672KCNH2n.1262T>G
c.429T>G (p.His143Gln)
c.234+18T>G (n.234+18T>G)
n.652T>G
c.129T>G (p.His43Gln)
c.279T>G (p.His93Gln)
c.252T>G (p.His84Gln)
7g.150959615A>GCA458646908KCNH2n.1262T>C
c.429T>C (p.His143=)
c.234+18T>C (n.234+18T>C)
n.652T>C
c.129T>C (p.His43=)
c.279T>C (p.His93=)
c.252T>C (p.His84=)
7g.150959615A>TCA369863673KCNH2n.1262T>A
c.429T>A (p.His143Gln)
c.234+18T>A (n.234+18T>A)
n.652T>A
c.129T>A (p.His43Gln)
c.279T>A (p.His93Gln)
c.252T>A (p.His84Gln)
7g.150959616T>ACA369863676KCNH2n.1261A>T
c.428A>T (p.His143Leu)
c.234+17A>T (n.234+17A>T)
n.651A>T
c.128A>T (p.His43Leu)
c.278A>T (p.His93Leu)
c.251A>T (p.His84Leu)
7g.150959616T>CCA369863675KCNH2n.1261A>G
c.428A>G (p.His143Arg)
c.234+17A>G (n.234+17A>G)
n.651A>G
c.128A>G (p.His43Arg)
c.278A>G (p.His93Arg)
c.251A>G (p.His84Arg)
 gnomAD v4
7g.150959616T>GCA369863674KCNH2n.1261A>C
c.428A>C (p.His143Pro)
c.234+17A>C (n.234+17A>C)
n.651A>C
c.128A>C (p.His43Pro)
c.278A>C (p.His93Pro)
c.251A>C (p.His84Pro)
7g.150959617G>ACA369863677KCNH2n.1260C>T
c.427C>T (p.His143Tyr)
c.234+16C>T (n.234+16C>T)
n.650C>T
c.127C>T (p.His43Tyr)
c.277C>T (p.His93Tyr)
c.250C>T (p.His84Tyr)
 gnomAD v4 COSMIC COSMIC
7g.150959617G>CCA369863678KCNH2n.1260C>G
c.427C>G (p.His143Asp)
c.234+16C>G (n.234+16C>G)
n.650C>G
c.127C>G (p.His43Asp)
c.277C>G (p.His93Asp)
c.250C>G (p.His84Asp)
7g.150959617G>TCA369863679KCNH2n.1260C>A
c.427C>A (p.His143Asn)
c.234+16C>A (n.234+16C>A)
n.650C>A
c.127C>A (p.His43Asn)
c.277C>A (p.His93Asn)
c.250C>A (p.His84Asn)
7g.150959618A>CCA458646909KCNH2n.1259T>G
c.426T>G (p.Ala142=)
c.234+15T>G (n.234+15T>G)
n.649T>G
c.126T>G (p.Ala42=)
c.276T>G (p.Ala92=)
c.249T>G (p.Ala83=)
7g.150959618A>GCA458646910KCNH2n.1259T>C
c.426T>C (p.Ala142=)
c.234+15T>C (n.234+15T>C)
n.649T>C
c.126T>C (p.Ala42=)
c.276T>C (p.Ala92=)
c.249T>C (p.Ala83=)
 ClinVar dbSNP gnomAD v4
7g.150959618A>TCA458646911KCNH2n.1259T>A
c.426T>A (p.Ala142=)
c.234+15T>A (n.234+15T>A)
n.649T>A
c.126T>A (p.Ala42=)
c.276T>A (p.Ala92=)
c.249T>A (p.Ala83=)
7g.150959619G>ACA369863680KCNH2n.1258C>T
c.425C>T (p.Ala142Val)
c.234+14C>T (n.234+14C>T)
n.648C>T
c.125C>T (p.Ala42Val)
c.275C>T (p.Ala92Val)
c.248C>T (p.Ala83Val)
7g.150959619G>CCA369863681KCNH2n.1258C>G
c.425C>G (p.Ala142Gly)
c.234+14C>G (n.234+14C>G)
n.648C>G
c.125C>G (p.Ala42Gly)
c.275C>G (p.Ala92Gly)
c.248C>G (p.Ala83Gly)
7g.150959619G>TCA369863682KCNH2n.1258C>A
c.425C>A (p.Ala142Asp)
c.234+14C>A (n.234+14C>A)
n.648C>A
c.125C>A (p.Ala42Asp)
c.275C>A (p.Ala92Asp)
c.248C>A (p.Ala83Asp)
7g.150959620C>ACA369863683KCNH2n.1257G>T
c.424G>T (p.Ala142Ser)
c.234+13G>T (n.234+13G>T)
n.647G>T
c.124G>T (p.Ala42Ser)
c.274G>T (p.Ala92Ser)
c.247G>T (p.Ala83Ser)
 COSMIC COSMIC
7g.150959620C=CA1752419904KCNH2n.1257G=
c.424G= (p.Ala142=)
c.234+13G= (n.234+13G=)
n.647G=
c.124G= (p.Ala42=)
c.274G= (p.Ala92=)
c.247G= (p.Ala83=)
7g.150959620C>GCA369863684KCNH2n.1257G>C
c.424G>C (p.Ala142Pro)
c.234+13G>C (n.234+13G>C)
n.647G>C
c.124G>C (p.Ala42Pro)
c.274G>C (p.Ala92Pro)
c.247G>C (p.Ala83Pro)
7g.150959620C>TCA039366KCNH2n.1257G>A
c.424G>A (p.Ala142Thr)
c.234+13G>A (n.234+13G>A)
n.647G>A
c.124G>A (p.Ala42Thr)
c.274G>A (p.Ala92Thr)
c.247G>A (p.Ala83Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959621C>ACA458646912KCNH2n.1256G>T
c.423G>T (p.Pro141=)
c.234+12G>T (n.234+12G>T)
n.646G>T
c.123G>T (p.Pro41=)
c.273G>T (p.Pro91=)
c.246G>T (p.Pro82=)
7g.150959621C=CA1752419909KCNH2n.1256G=
c.423G= (p.Pro141=)
c.234+12G= (n.234+12G=)
n.646G=
c.123G= (p.Pro41=)
c.273G= (p.Pro91=)
c.246G= (p.Pro82=)
7g.150959621C>GCA458646913KCNH2n.1256G>C
c.423G>C (p.Pro141=)
c.234+12G>C (n.234+12G>C)
n.646G>C
c.123G>C (p.Pro41=)
c.273G>C (p.Pro91=)
c.246G>C (p.Pro82=)
7g.150959621C>TCA039352KCNH2n.1256G>A
c.423G>A (p.Pro141=)
c.234+12G>A (n.234+12G>A)
n.646G>A
c.123G>A (p.Pro41=)
c.273G>A (p.Pro91=)
c.246G>A (p.Pro82=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959622G>ACA008431KCNH2n.1255C>T
c.422C>T (p.Pro141Leu)
c.234+11C>T (n.234+11C>T)
n.645C>T
c.122C>T (p.Pro41Leu)
c.272C>T (p.Pro91Leu)
c.245C>T (p.Pro82Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959622G>CCA369863685KCNH2n.1255C>G
c.422C>G (p.Pro141Arg)
c.234+11C>G (n.234+11C>G)
n.645C>G
c.122C>G (p.Pro41Arg)
c.272C>G (p.Pro91Arg)
c.245C>G (p.Pro82Arg)
7g.150959622G=CA1752419915KCNH2n.1255C=
c.422C= (p.Pro141=)
c.234+11C= (n.234+11C=)
n.645C=
c.122C= (p.Pro41=)
c.272C= (p.Pro91=)
c.245C= (p.Pro82=)
7g.150959622G>TCA369863686KCNH2n.1255C>A
c.422C>A (p.Pro141Gln)
c.234+11C>A (n.234+11C>A)
n.645C>A
c.122C>A (p.Pro41Gln)
c.272C>A (p.Pro91Gln)
c.245C>A (p.Pro82Gln)
7g.150959625dupCA658761343KCNH2n.1255dup
c.422dup (p.Ala142GlyfsTer3)
c.234+11dup (n.234+11dup)
n.645dup
c.122dup (p.Ala42GlyfsTer3)
c.272dup (p.Ala92GlyfsTer3)
c.245dup (p.Ala83GlyfsTer3)
 ClinVar dbSNP
7g.150959623G>ACA369863689KCNH2n.1254C>T
c.421C>T (p.Pro141Ser)
c.234+10C>T (n.234+10C>T)
n.644C>T
c.121C>T (p.Pro41Ser)
c.271C>T (p.Pro91Ser)
c.244C>T (p.Pro82Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150959623G>CCA369863688KCNH2n.1254C>G
c.421C>G (p.Pro141Ala)
c.234+10C>G (n.234+10C>G)
n.644C>G
c.121C>G (p.Pro41Ala)
c.271C>G (p.Pro91Ala)
c.244C>G (p.Pro82Ala)
7g.150959623G=CA1752419922KCNH2n.1254C=
c.421C= (p.Pro141=)
c.234+10C= (n.234+10C=)
n.644C=
c.121C= (p.Pro41=)
c.271C= (p.Pro91=)
c.244C= (p.Pro82=)
7g.150959623G>TCA369863687KCNH2n.1254C>A
c.421C>A (p.Pro141Thr)
c.234+10C>A (n.234+10C>A)
n.644C>A
c.121C>A (p.Pro41Thr)
c.271C>A (p.Pro91Thr)
c.244C>A (p.Pro82Thr)
7g.150959624G>ACA169082141KCNH2n.1253C>T
c.420C>T (p.Ser140=)
c.234+9C>T (n.234+9C>T)
n.643C>T
c.120C>T (p.Ser40=)
c.270C>T (p.Ser90=)
c.243C>T (p.Ser81=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959624G>CCA458646914KCNH2n.1253C>G
c.420C>G (p.Ser140=)
c.234+9C>G (n.234+9C>G)
n.643C>G
c.120C>G (p.Ser40=)
c.270C>G (p.Ser90=)
c.243C>G (p.Ser81=)
7g.150959624G=CA1752419924KCNH2n.1253C=
c.420C= (p.Ser140=)
c.234+9C= (n.234+9C=)
n.643C=
c.120C= (p.Ser40=)
c.270C= (p.Ser90=)
c.243C= (p.Ser81=)
7g.150959624G>TCA458646915KCNH2n.1253C>A
c.420C>A (p.Ser140=)
c.234+9C>A (n.234+9C>A)
n.643C>A
c.120C>A (p.Ser40=)
c.270C>A (p.Ser90=)
c.243C>A (p.Ser81=)
7g.150959625G>ACA369863692KCNH2n.1252C>T
c.419C>T (p.Ser140Phe)
c.234+8C>T (n.234+8C>T)
n.642C>T
c.119C>T (p.Ser40Phe)
c.269C>T (p.Ser90Phe)
c.242C>T (p.Ser81Phe)
 ClinVar gnomAD v4
7g.150959625G>CCA369863690KCNH2n.1252C>G
c.419C>G (p.Ser140Cys)
c.234+8C>G (n.234+8C>G)
n.642C>G
c.119C>G (p.Ser40Cys)
c.269C>G (p.Ser90Cys)
c.242C>G (p.Ser81Cys)
7g.150959625G=CA1752419929KCNH2n.1252C=
c.419C= (p.Ser140=)
c.234+8C= (n.234+8C=)
n.642C=
c.119C= (p.Ser40=)
c.269C= (p.Ser90=)
c.242C= (p.Ser81=)
7g.150959625G>TCA369863691KCNH2n.1252C>A
c.419C>A (p.Ser140Tyr)
c.234+8C>A (n.234+8C>A)
n.642C>A
c.119C>A (p.Ser40Tyr)
c.269C>A (p.Ser90Tyr)
c.242C>A (p.Ser81Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959626delCA2573052839KCNH2n.1251del
c.418del (p.Ser140ProfsTer26)
c.234+7del (n.234+7del)
n.641del
c.118del (p.Ser40ProfsTer26)
c.268del (p.Ser90ProfsTer26)
c.241del (p.Ser81ProfsTer26)
 ClinVar dbSNP
7g.150959626A=CA1752419932KCNH2n.1251T=
c.418T= (p.Ser140=)
c.234+7T= (n.234+7T=)
n.641T=
c.118T= (p.Ser40=)
c.268T= (p.Ser90=)
c.241T= (p.Ser81=)
7g.150959626A>CCA369863693KCNH2n.1251T>G
c.418T>G (p.Ser140Ala)
c.234+7T>G (n.234+7T>G)
n.641T>G
c.118T>G (p.Ser40Ala)
c.268T>G (p.Ser90Ala)
c.241T>G (p.Ser81Ala)
 dbSNP
7g.150959626A>GCA369863694KCNH2n.1251T>C
c.418T>C (p.Ser140Pro)
c.234+7T>C (n.234+7T>C)
n.641T>C
c.118T>C (p.Ser40Pro)
c.268T>C (p.Ser90Pro)
c.241T>C (p.Ser81Pro)
7g.150959626A>TCA369863695KCNH2n.1251T>A
c.418T>A (p.Ser140Thr)
c.234+7T>A (n.234+7T>A)
n.641T>A
c.118T>A (p.Ser40Thr)
c.268T>A (p.Ser90Thr)
c.241T>A (p.Ser81Thr)
7g.150959627C>ACA458646916KCNH2n.1250G>T
c.417G>T (p.Gly139=)
c.234+6G>T (n.234+6G>T)
n.640G>T
c.117G>T (p.Gly39=)
c.267G>T (p.Gly89=)
c.240G>T (p.Gly80=)
7g.150959627C>GCA458646917KCNH2n.1250G>C
c.417G>C (p.Gly139=)
c.234+6G>C (n.234+6G>C)
n.640G>C
c.117G>C (p.Gly39=)
c.267G>C (p.Gly89=)
c.240G>C (p.Gly80=)
7g.150959627C>TCA458646918KCNH2n.1250G>A
c.417G>A (p.Gly139=)
c.234+6G>A (n.234+6G>A)
n.640G>A
c.117G>A (p.Gly39=)
c.267G>A (p.Gly89=)
c.240G>A (p.Gly80=)
7g.150959628C>ACA369863698KCNH2n.1249G>T
c.416G>T (p.Gly139Val)
c.234+5G>T (n.234+5G>T)
n.639G>T
c.116G>T (p.Gly39Val)
c.266G>T (p.Gly89Val)
c.239G>T (p.Gly80Val)
7g.150959628C=CA1752419933KCNH2n.1249G=
c.416G= (p.Gly139=)
c.234+5G= (n.234+5G=)
n.639G=
c.116G= (p.Gly39=)
c.266G= (p.Gly89=)
c.239G= (p.Gly80=)
7g.150959628C>GCA369863697KCNH2n.1249G>C
c.416G>C (p.Gly139Ala)
c.234+5G>C (n.234+5G>C)
n.639G>C
c.116G>C (p.Gly39Ala)
c.266G>C (p.Gly89Ala)
c.239G>C (p.Gly80Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959628C>TCA369863696KCNH2n.1249G>A
c.416G>A (p.Gly139Glu)
c.234+5G>A (n.234+5G>A)
n.639G>A
c.116G>A (p.Gly39Glu)
c.266G>A (p.Gly89Glu)
c.239G>A (p.Gly80Glu)
7g.150959629C>ACA369863699KCNH2n.1248G>T
c.415G>T (p.Gly139Trp)
c.234+4G>T (n.234+4G>T)
n.638G>T
c.115G>T (p.Gly39Trp)
c.265G>T (p.Gly89Trp)
c.238G>T (p.Gly80Trp)
7g.150959629C=CA1752419936KCNH2n.1248G=
c.415G= (p.Gly139=)
c.234+4G= (n.234+4G=)
n.638G=
c.115G= (p.Gly39=)
c.265G= (p.Gly89=)
c.238G= (p.Gly80=)
7g.150959629C>GCA169082150KCNH2n.1248G>C
c.415G>C (p.Gly139Arg)
c.234+4G>C (n.234+4G>C)
n.638G>C
c.115G>C (p.Gly39Arg)
c.265G>C (p.Gly89Arg)
c.238G>C (p.Gly80Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.150959629C>TCA369863700KCNH2n.1248G>A
c.415G>A (p.Gly139Arg)
c.234+4G>A (n.234+4G>A)
n.638G>A
c.115G>A (p.Gly39Arg)
c.265G>A (p.Gly89Arg)
c.238G>A (p.Gly80Arg)
7g.150959630C>ACA458646919KCNH2n.1247G>T
c.414G>T (p.Val138=)
c.234+3G>T (n.234+3G>T)
n.637G>T
c.114G>T (p.Val38=)
c.264G>T (p.Val88=)
c.237G>T (p.Val79=)
7g.150959630C>GCA458646920KCNH2n.1247G>C
c.414G>C (p.Val138=)
c.234+3G>C (n.234+3G>C)
n.637G>C
c.114G>C (p.Val38=)
c.264G>C (p.Val88=)
c.237G>C (p.Val79=)
7g.150959630C>TCA458646921KCNH2n.1247G>A
c.414G>A (p.Val138=)
c.234+3G>A (n.234+3G>A)
n.637G>A
c.114G>A (p.Val38=)
c.264G>A (p.Val88=)
c.237G>A (p.Val79=)
7g.150959631A>CCA369863701KCNH2n.1246T>G
c.413T>G (p.Val138Gly)
c.234+2T>G (n.234+2T>G)
n.636T>G
c.113T>G (p.Val38Gly)
c.263T>G (p.Val88Gly)
c.236T>G (p.Val79Gly)
7g.150959631A>GCA369863702KCNH2n.1246T>C
c.413T>C (p.Val138Ala)
c.234+2T>C (n.234+2T>C)
n.636T>C
c.113T>C (p.Val38Ala)
c.263T>C (p.Val88Ala)
c.236T>C (p.Val79Ala)
 ClinVar
7g.150959631A>TCA369863703KCNH2n.1246T>A
c.413T>A (p.Val138Glu)
c.234+2T>A (n.234+2T>A)
n.636T>A
c.113T>A (p.Val38Glu)
c.263T>A (p.Val88Glu)
c.236T>A (p.Val79Glu)
7g.150959632C>ACA369863704KCNH2n.1245G>T
c.412G>T (p.Val138Leu)
c.234+1G>T (n.234+1G>T)
n.635G>T
c.112G>T (p.Val38Leu)
c.262G>T (p.Val88Leu)
c.235G>T (p.Val79Leu)
7g.150959632C>GCA369863706KCNH2n.1245G>C
c.412G>C (p.Val138Leu)
c.234+1G>C (n.234+1G>C)
n.635G>C
c.112G>C (p.Val38Leu)
c.262G>C (p.Val88Leu)
c.235G>C (p.Val79Leu)
7g.150959632C>TCA369863705KCNH2n.1245G>A
c.412G>A (p.Val138Met)
c.234+1G>A (n.234+1G>A)
n.635G>A
c.112G>A (p.Val38Met)
c.262G>A (p.Val88Met)
c.235G>A (p.Val79Met)
7g.150959633C>ACA169082154KCNH2n.1244G>T
c.411G>T (p.Met137Ile)
c.234G>T (p.Met78Ile)
n.634G>T
c.111G>T (p.Met37Ile)
c.261G>T (p.Met87Ile)
 dbSNP
7g.150959633C=CA1752419938KCNH2n.1244G=
c.411G= (p.Met137=)
c.234G= (p.Met78=)
n.634G=
c.111G= (p.Met37=)
c.261G= (p.Met87=)
7g.150959633C>GCA369863707KCNH2n.1244G>C
c.411G>C (p.Met137Ile)
c.234G>C (p.Met78Ile)
n.634G>C
c.111G>C (p.Met37Ile)
c.261G>C (p.Met87Ile)
7g.150959633C>TCA369863708KCNH2n.1244G>A
c.411G>A (p.Met137Ile)
c.234G>A (p.Met78Ile)
n.634G>A
c.111G>A (p.Met37Ile)
c.261G>A (p.Met87Ile)
7g.150959634A=CA1752419941KCNH2n.1243T=
c.410T= (p.Met137=)
c.233T= (p.Met78=)
n.633T=
c.110T= (p.Met37=)
c.260T= (p.Met87=)
7g.150959634A>CCA369863709KCNH2n.1243T>G
c.410T>G (p.Met137Arg)
c.233T>G (p.Met78Arg)
n.633T>G
c.110T>G (p.Met37Arg)
c.260T>G (p.Met87Arg)
7g.150959634A>GCA369863710KCNH2n.1243T>C
c.410T>C (p.Met137Thr)
c.233T>C (p.Met78Thr)
n.633T>C
c.110T>C (p.Met37Thr)
c.260T>C (p.Met87Thr)
7g.150959634A>TCA369863711KCNH2n.1243T>A
c.410T>A (p.Met137Lys)
c.233T>A (p.Met78Lys)
n.633T>A
c.110T>A (p.Met37Lys)
c.260T>A (p.Met87Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.150959635T>ACA369863712KCNH2n.1242A>T
c.409A>T (p.Met137Leu)
c.232A>T (p.Met78Leu)
n.632A>T
c.109A>T (p.Met37Leu)
c.259A>T (p.Met87Leu)
7g.150959635T>CCA369863713KCNH2n.1242A>G
c.409A>G (p.Met137Val)
c.232A>G (p.Met78Val)
n.632A>G
c.109A>G (p.Met37Val)
c.259A>G (p.Met87Val)
 ClinVar dbSNP
7g.150959635T>GCA369863714KCNH2n.1242A>C
c.409A>C (p.Met137Leu)
c.232A>C (p.Met78Leu)
n.632A>C
c.109A>C (p.Met37Leu)
c.259A>C (p.Met87Leu)
7g.150959635T=CA1752419946KCNH2n.1242A=
c.409A= (p.Met137=)
c.232A= (p.Met78=)
n.632A=
c.109A= (p.Met37=)
c.259A= (p.Met87=)
7g.150959636G>ACA039328KCNH2n.1241C>T
c.408C>T (p.Asp136=)
c.231C>T (p.Asp77=)
n.631C>T
c.108C>T (p.Asp36=)
c.258C>T (p.Asp86=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959636G>CCA369863715KCNH2n.1241C>G
c.408C>G (p.Asp136Glu)
c.231C>G (p.Asp77Glu)
n.631C>G
c.108C>G (p.Asp36Glu)
c.258C>G (p.Asp86Glu)
7g.150959636G=CA1752419950KCNH2n.1241C=
c.408C= (p.Asp136=)
c.231C= (p.Asp77=)
n.631C=
c.108C= (p.Asp36=)
c.258C= (p.Asp86=)
7g.150959636G>TCA369863716KCNH2n.1241C>A
c.408C>A (p.Asp136Glu)
c.231C>A (p.Asp77Glu)
n.631C>A
c.108C>A (p.Asp36Glu)
c.258C>A (p.Asp86Glu)
7g.150959636_150959663delCA2695208663KCNH2n.1214_1241del
c.381_408del (p.Asn128TrpfsTer29)
c.204_231del (p.Asn69TrpfsTer7)
n.604_631del
c.81_108del (p.Asn28TrpfsTer29)
c.231_258del (p.Asn78TrpfsTer29)
c.204_231del (p.Asn69TrpfsTer29)
7g.150959637T>ACA369863718KCNH2n.1240A>T
c.407A>T (p.Asp136Val)
c.230A>T (p.Asp77Val)
n.630A>T
c.107A>T (p.Asp36Val)
c.257A>T (p.Asp86Val)
7g.150959637T>CCA369863719KCNH2n.1240A>G
c.407A>G (p.Asp136Gly)
c.230A>G (p.Asp77Gly)
n.630A>G
c.107A>G (p.Asp36Gly)
c.257A>G (p.Asp86Gly)
7g.150959637T>GCA369863717KCNH2n.1240A>C
c.407A>C (p.Asp136Ala)
c.230A>C (p.Asp77Ala)
n.630A>C
c.107A>C (p.Asp36Ala)
c.257A>C (p.Asp86Ala)
7g.150959638C>ACA369863720KCNH2n.1239G>T
c.406G>T (p.Asp136Tyr)
c.229G>T (p.Asp77Tyr)
n.629G>T
c.106G>T (p.Asp36Tyr)
c.256G>T (p.Asp86Tyr)
 ClinVar dbSNP
7g.150959638C>GCA369863722KCNH2n.1239G>C
c.406G>C (p.Asp136His)
c.229G>C (p.Asp77His)
n.629G>C
c.106G>C (p.Asp36His)
c.256G>C (p.Asp86His)
7g.150959638C>TCA369863721KCNH2n.1239G>A
c.406G>A (p.Asp136Asn)
c.229G>A (p.Asp77Asn)
n.629G>A
c.106G>A (p.Asp36Asn)
c.256G>A (p.Asp86Asn)
7g.150959638_150959641delinsCCTTCA1752419952KCNH2n.1236_1239delinsAAGG
c.403_406delinsAAGG (p.Lys135=)
c.226_229delinsAAGG (p.Lys76=)
n.626_629delinsAAGG
c.103_106delinsAAGG (p.Lys35=)
c.253_256delinsAAGG (p.Lys85=)
7g.150959639C>ACA369863723KCNH2n.1238G>T
c.405G>T (p.Lys135Asn)
c.228G>T (p.Lys76Asn)
n.628G>T
c.105G>T (p.Lys35Asn)
c.255G>T (p.Lys85Asn)
7g.150959639C=CA1752419957KCNH2n.1238G=
c.405G= (p.Lys135=)
c.228G= (p.Lys76=)
n.628G=
c.105G= (p.Lys35=)
c.255G= (p.Lys85=)
7g.150959639C>GCA369863724KCNH2n.1238G>C
c.405G>C (p.Lys135Asn)
c.228G>C (p.Lys76Asn)
n.628G>C
c.105G>C (p.Lys35Asn)
c.255G>C (p.Lys85Asn)
7g.150959639C>TCA458646922KCNH2n.1238G>A
c.405G>A (p.Lys135=)
c.228G>A (p.Lys76=)
n.628G>A
c.105G>A (p.Lys35=)
c.255G>A (p.Lys85=)
 dbSNP
7g.150959641_150959643delCA1752419956KCNH2n.1236_1238del
c.403_405del (p.Lys135del)
c.226_228del (p.Lys76del)
n.626_628del
c.103_105del (p.Lys35del)
c.253_255del (p.Lys85del)
 ClinVar dbSNP gnomAD v4
7g.150959640T>ACA369863725KCNH2n.1237A>T
c.404A>T (p.Lys135Met)
c.227A>T (p.Lys76Met)
n.627A>T
c.104A>T (p.Lys35Met)
c.254A>T (p.Lys85Met)
7g.150959640T>CCA369863726KCNH2n.1237A>G
c.404A>G (p.Lys135Arg)
c.227A>G (p.Lys76Arg)
n.627A>G
c.104A>G (p.Lys35Arg)
c.254A>G (p.Lys85Arg)
7g.150959640T>GCA369863727KCNH2n.1237A>C
c.404A>C (p.Lys135Thr)
c.227A>C (p.Lys76Thr)
n.627A>C
c.104A>C (p.Lys35Thr)
c.254A>C (p.Lys85Thr)
7g.150959641T>ACA369863728KCNH2n.1236A>T
c.403A>T (p.Lys135Ter)
c.226A>T (p.Lys76Ter)
n.626A>T
c.103A>T (p.Lys35Ter)
c.253A>T (p.Lys85Ter)
7g.150959641T>CCA369863729KCNH2n.1236A>G
c.403A>G (p.Lys135Glu)
c.226A>G (p.Lys76Glu)
n.626A>G
c.103A>G (p.Lys35Glu)
c.253A>G (p.Lys85Glu)
7g.150959641T>GCA369863730KCNH2n.1236A>C
c.403A>C (p.Lys135Gln)
c.226A>C (p.Lys76Gln)
n.626A>C
c.103A>C (p.Lys35Gln)
c.253A>C (p.Lys85Gln)
7g.150959641_150959642delinsTCCA1752419961KCNH2n.1235_1236delinsGA
c.402_403delinsGA (p.Glu134=)
c.225_226delinsGA (p.Glu75=)
n.625_626delinsGA
c.102_103delinsGA (p.Glu34=)
c.252_253delinsGA (p.Glu84=)
7g.150959642delCA16612199KCNH2n.1235del
c.402del (p.Lys135ArgfsTer?)
c.225del (p.Lys76ArgfsTer9)
n.625del
c.102del (p.Lys35ArgfsTer?)
c.252del (p.Lys85ArgfsTer?)
c.225del (p.Lys76ArgfsTer?)
 ClinVar dbSNP
7g.150959642C>ACA369863731KCNH2n.1235G>T
c.402G>T (p.Glu134Asp)
c.225G>T (p.Glu75Asp)
n.625G>T
c.102G>T (p.Glu34Asp)
c.252G>T (p.Glu84Asp)
7g.150959642C>GCA369863732KCNH2n.1235G>C
c.402G>C (p.Glu134Asp)
c.225G>C (p.Glu75Asp)
n.625G>C
c.102G>C (p.Glu34Asp)
c.252G>C (p.Glu84Asp)
7g.150959642C>TCA458646923KCNH2n.1235G>A
c.402G>A (p.Glu134=)
c.225G>A (p.Glu75=)
n.625G>A
c.102G>A (p.Glu34=)
c.252G>A (p.Glu84=)
7g.150959643T>ACA369863735KCNH2n.1234A>T
c.401A>T (p.Glu134Val)
c.224A>T (p.Glu75Val)
n.624A>T
c.101A>T (p.Glu34Val)
c.251A>T (p.Glu84Val)
7g.150959643T>CCA369863734KCNH2n.1234A>G
c.401A>G (p.Glu134Gly)
c.224A>G (p.Glu75Gly)
n.624A>G
c.101A>G (p.Glu34Gly)
c.251A>G (p.Glu84Gly)
 ClinVar dbSNP
7g.150959643T>GCA369863733KCNH2n.1234A>C
c.401A>C (p.Glu134Ala)
c.224A>C (p.Glu75Ala)
n.624A>C
c.101A>C (p.Glu34Ala)
c.251A>C (p.Glu84Ala)
7g.150959644C>ACA369863736KCNH2n.1233G>T
c.400G>T (p.Glu134Ter)
c.223G>T (p.Glu75Ter)
n.623G>T
c.100G>T (p.Glu34Ter)
c.250G>T (p.Glu84Ter)
 ClinVar dbSNP
7g.150959644C>GCA369863737KCNH2n.1233G>C
c.400G>C (p.Glu134Gln)
c.223G>C (p.Glu75Gln)
n.623G>C
c.100G>C (p.Glu34Gln)
c.250G>C (p.Glu84Gln)
7g.150959644C>TCA369863738KCNH2n.1233G>A
c.400G>A (p.Glu134Lys)
c.223G>A (p.Glu75Lys)
n.623G>A
c.100G>A (p.Glu34Lys)
c.250G>A (p.Glu84Lys)
7g.150959645C>ACA369863739KCNH2n.1232G>T
c.399G>T (p.Met133Ile)
c.222G>T (p.Met74Ile)
n.622G>T
c.99G>T (p.Met33Ile)
c.249G>T (p.Met83Ile)
7g.150959645C>GCA369863740KCNH2n.1232G>C
c.399G>C (p.Met133Ile)
c.222G>C (p.Met74Ile)
n.622G>C
c.99G>C (p.Met33Ile)
c.249G>C (p.Met83Ile)
7g.150959645C>TCA369863741KCNH2n.1232G>A
c.399G>A (p.Met133Ile)
c.222G>A (p.Met74Ile)
n.622G>A
c.99G>A (p.Met33Ile)
c.249G>A (p.Met83Ile)
 COSMIC COSMIC
7g.150959646A=CA1752419968KCNH2n.1231T=
c.398T= (p.Met133=)
c.221T= (p.Met74=)
n.621T=
c.98T= (p.Met33=)
c.248T= (p.Met83=)
7g.150959646A>CCA369863742KCNH2n.1231T>G
c.398T>G (p.Met133Arg)
c.221T>G (p.Met74Arg)
n.621T>G
c.98T>G (p.Met33Arg)
c.248T>G (p.Met83Arg)
7g.150959646A>GCA008423KCNH2n.1231T>C
c.398T>C (p.Met133Thr)
c.221T>C (p.Met74Thr)
n.621T>C
c.98T>C (p.Met33Thr)
c.248T>C (p.Met83Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150959646A>TCA369863743KCNH2n.1231T>A
c.398T>A (p.Met133Lys)
c.221T>A (p.Met74Lys)
n.621T>A
c.98T>A (p.Met33Lys)
c.248T>A (p.Met83Lys)
7g.150959647delCA2580077717KCNH2n.1230del
c.397del (p.Met133TrpfsTer?)
c.220del (p.Met74TrpfsTer11)
n.620del
c.97del (p.Met33TrpfsTer?)
c.247del (p.Met83TrpfsTer?)
c.220del (p.Met74TrpfsTer?)
 ClinVar
7g.150959647T>ACA369863744KCNH2n.1230A>T
c.397A>T (p.Met133Leu)
c.220A>T (p.Met74Leu)
n.620A>T
c.97A>T (p.Met33Leu)
c.247A>T (p.Met83Leu)
7g.150959647T>CCA369863745KCNH2n.1230A>G
c.397A>G (p.Met133Val)
c.220A>G (p.Met74Val)
n.620A>G
c.97A>G (p.Met33Val)
c.247A>G (p.Met83Val)
 dbSNP
7g.150959647T>GCA369863746KCNH2n.1230A>C
c.397A>C (p.Met133Leu)
c.220A>C (p.Met74Leu)
n.620A>C
c.97A>C (p.Met33Leu)
c.247A>C (p.Met83Leu)
7g.150959647_150959650delinsTCACCA1752419972KCNH2n.1227_1230delinsGTGA
c.394_397delinsGTGA (p.Val132=)
c.217_220delinsGTGA (p.Val73=)
n.617_620delinsGTGA
c.94_97delinsGTGA (p.Val32=)
c.244_247delinsGTGA (p.Val82=)
7g.150959648C>ACA458646924KCNH2n.1229G>T
c.396G>T (p.Val132=)
c.219G>T (p.Val73=)
n.619G>T
c.96G>T (p.Val32=)
c.246G>T (p.Val82=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150959648C=CA1752419975KCNH2n.1229G=
c.396G= (p.Val132=)
c.219G= (p.Val73=)
n.619G=
c.96G= (p.Val32=)
c.246G= (p.Val82=)
7g.150959648C>GCA458646925KCNH2n.1229G>C
c.396G>C (p.Val132=)
c.219G>C (p.Val73=)
n.619G>C
c.96G>C (p.Val32=)
c.246G>C (p.Val82=)
7g.150959648C>TCA458646926KCNH2n.1229G>A
c.396G>A (p.Val132=)
c.219G>A (p.Val73=)
n.619G>A
c.96G>A (p.Val32=)
c.246G>A (p.Val82=)
7g.150959652_150959654delCA579075526KCNH2n.1227_1229del
c.394_396del (p.Val132del)
c.217_219del (p.Val73del)
n.617_619del
c.94_96del (p.Val32del)
c.244_246del (p.Val82del)
 dbSNP gnomAD v2 gnomAD v4
7g.150959649A>CCA369863748KCNH2n.1228T>G
c.395T>G (p.Val132Gly)
c.218T>G (p.Val73Gly)
n.618T>G
c.95T>G (p.Val32Gly)
c.245T>G (p.Val82Gly)
7g.150959649A>GCA369863749KCNH2n.1228T>C
c.395T>C (p.Val132Ala)
c.218T>C (p.Val73Ala)
n.618T>C
c.95T>C (p.Val32Ala)
c.245T>C (p.Val82Ala)
 gnomAD v4
7g.150959649A>TCA369863747KCNH2n.1228T>A
c.395T>A (p.Val132Glu)
c.218T>A (p.Val73Glu)
n.618T>A
c.95T>A (p.Val32Glu)
c.245T>A (p.Val82Glu)
7g.150959650C>ACA369863750KCNH2n.1227G>T
c.394G>T (p.Val132Leu)
c.217G>T (p.Val73Leu)
n.617G>T
c.94G>T (p.Val32Leu)
c.244G>T (p.Val82Leu)
7g.150959650C>GCA369863751KCNH2n.1227G>C
c.394G>C (p.Val132Leu)
c.217G>C (p.Val73Leu)
n.617G>C
c.94G>C (p.Val32Leu)
c.244G>C (p.Val82Leu)
7g.150959650C>TCA369863752KCNH2n.1227G>A
c.394G>A (p.Val132Met)
c.217G>A (p.Val73Met)
n.617G>A
c.94G>A (p.Val32Met)
c.244G>A (p.Val82Met)
7g.150959651C>ACA458646927KCNH2n.1226G>T
c.393G>T (p.Val131=)
c.216G>T (p.Val72=)
n.616G>T
c.93G>T (p.Val31=)
c.243G>T (p.Val81=)
7g.150959651C=CA1752419978KCNH2n.1226G=
c.393G= (p.Val131=)
c.216G= (p.Val72=)
n.616G=
c.93G= (p.Val31=)
c.243G= (p.Val81=)
7g.150959651C>GCA458646928KCNH2n.1226G>C
c.393G>C (p.Val131=)
c.216G>C (p.Val72=)
n.616G>C
c.93G>C (p.Val31=)
c.243G>C (p.Val81=)
7g.150959651C>TCA039286KCNH2n.1226G>A
c.393G>A (p.Val131=)
c.216G>A (p.Val72=)
n.616G>A
c.93G>A (p.Val31=)
c.243G>A (p.Val81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150959652A>CCA369863753KCNH2n.1225T>G
c.392T>G (p.Val131Gly)
c.215T>G (p.Val72Gly)
n.615T>G
c.92T>G (p.Val31Gly)
c.242T>G (p.Val81Gly)
7g.150959652A>GCA369863754KCNH2n.1225T>C
c.392T>C (p.Val131Ala)
c.215T>C (p.Val72Ala)
n.615T>C
c.92T>C (p.Val31Ala)
c.242T>C (p.Val81Ala)
 ClinVar gnomAD v4
7g.150959652A>TCA369863755KCNH2n.1225T>A
c.392T>A (p.Val131Glu)
c.215T>A (p.Val72Glu)
n.615T>A
c.92T>A (p.Val31Glu)
c.242T>A (p.Val81Glu)
7g.150959653C>ACA039271KCNH2n.1224G>T
c.391G>T (p.Val131Leu)
c.214G>T (p.Val72Leu)
n.614G>T
c.91G>T (p.Val31Leu)
c.241G>T (p.Val81Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959653C=CA1752419985KCNH2n.1224G=
c.391G= (p.Val131=)
c.214G= (p.Val72=)
n.614G=
c.91G= (p.Val31=)
c.241G= (p.Val81=)
7g.150959653C>GCA369863756KCNH2n.1224G>C
c.391G>C (p.Val131Leu)
c.214G>C (p.Val72Leu)
n.614G>C
c.91G>C (p.Val31Leu)
c.241G>C (p.Val81Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.150959653C>TCA369863757KCNH2n.1224G>A
c.391G>A (p.Val131Met)
c.214G>A (p.Val72Met)
n.614G>A
c.91G>A (p.Val31Met)
c.241G>A (p.Val81Met)
 ClinVar dbSNP
7g.150959654C>ACA071494KCNH2n.1223G>T
c.390G>T (p.Glu130Asp)
c.213G>T (p.Glu71Asp)
n.613G>T
c.90G>T (p.Glu30Asp)
c.240G>T (p.Glu80Asp)
7g.150959654C>GCA369863758KCNH2n.1223G>C
c.390G>C (p.Glu130Asp)
c.213G>C (p.Glu71Asp)
n.613G>C
c.90G>C (p.Glu30Asp)
c.240G>C (p.Glu80Asp)
7g.150959654C>TCA458646929KCNH2n.1223G>A
c.390G>A (p.Glu130=)
c.213G>A (p.Glu71=)
n.613G>A
c.90G>A (p.Glu30=)
c.240G>A (p.Glu80=)
7g.150959655T>ACA369863760KCNH2n.1222A>T
c.389A>T (p.Glu130Val)
c.212A>T (p.Glu71Val)
n.612A>T
c.89A>T (p.Glu30Val)
c.239A>T (p.Glu80Val)
7g.150959655T>CCA369863761KCNH2n.1222A>G
c.389A>G (p.Glu130Gly)
c.212A>G (p.Glu71Gly)
n.612A>G
c.89A>G (p.Glu30Gly)
c.239A>G (p.Glu80Gly)
7g.150959655T>GCA369863759KCNH2n.1222A>C
c.389A>C (p.Glu130Ala)
c.212A>C (p.Glu71Ala)
n.612A>C
c.89A>C (p.Glu30Ala)
c.239A>C (p.Glu80Ala)
7g.150959656C>ACA369863762KCNH2n.1221G>T
c.388G>T (p.Glu130Ter)
c.211G>T (p.Glu71Ter)
n.611G>T
c.88G>T (p.Glu30Ter)
c.238G>T (p.Glu80Ter)
7g.150959656C=CA1752419989KCNH2n.1221G=
c.388G= (p.Glu130=)
c.211G= (p.Glu71=)
n.611G=
c.88G= (p.Glu30=)
c.238G= (p.Glu80=)
7g.150959656C>GCA369863763KCNH2n.1221G>C
c.388G>C (p.Glu130Gln)
c.211G>C (p.Glu71Gln)
n.611G>C
c.88G>C (p.Glu30Gln)
c.238G>C (p.Glu80Gln)
7g.150959656C>TCA008414KCNH2n.1221G>A
c.388G>A (p.Glu130Lys)
c.211G>A (p.Glu71Lys)
n.611G>A
c.88G>A (p.Glu30Lys)
c.238G>A (p.Glu80Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150959657G>ACA039243KCNH2n.1220C>T
c.387C>T (p.Phe129=)
c.210C>T (p.Phe70=)
n.610C>T
c.87C>T (p.Phe29=)
c.237C>T (p.Phe79=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150959657G>CCA008406KCNH2n.1220C>G
c.387C>G (p.Phe129Leu)
c.210C>G (p.Phe70Leu)
n.610C>G
c.87C>G (p.Phe29Leu)
c.237C>G (p.Phe79Leu)
 ClinVar dbSNP
7g.150959657G=CA1752419999KCNH2n.1220C=
c.387C= (p.Phe129=)
c.210C= (p.Phe70=)
n.610C=
c.87C= (p.Phe29=)
c.237C= (p.Phe79=)
7g.150959657G>TCA369863764KCNH2n.1220C>A
c.387C>A (p.Phe129Leu)
c.210C>A (p.Phe70Leu)
n.610C>A
c.87C>A (p.Phe29Leu)
c.237C>A (p.Phe79Leu)
7g.150959660_150959671delCA2695208665KCNH2n.1209_1220del
c.376_387del (p.Ile126_Phe129del)
c.199_210del (p.Ile67_Phe70del)
n.599_610del
c.76_87del (p.Ile26_Phe29del)
c.226_237del (p.Ile76_Phe79del)
7g.150959658A>CCA369863765KCNH2n.1219T>G
c.386T>G (p.Phe129Cys)
c.209T>G (p.Phe70Cys)
n.609T>G
c.86T>G (p.Phe29Cys)
c.236T>G (p.Phe79Cys)
7g.150959658A>GCA369863767KCNH2n.1219T>C
c.386T>C (p.Phe129Ser)
c.209T>C (p.Phe70Ser)
n.609T>C
c.86T>C (p.Phe29Ser)
c.236T>C (p.Phe79Ser)
7g.150959658A>TCA369863766KCNH2n.1219T>A
c.386T>A (p.Phe129Tyr)
c.209T>A (p.Phe70Tyr)
n.609T>A
c.86T>A (p.Phe29Tyr)
c.236T>A (p.Phe79Tyr)
7g.150959659A>CCA369863768KCNH2n.1218T>G
c.385T>G (p.Phe129Val)
c.208T>G (p.Phe70Val)
n.608T>G
c.85T>G (p.Phe29Val)
c.235T>G (p.Phe79Val)
7g.150959659A>GCA369863769KCNH2n.1218T>C
c.385T>C (p.Phe129Leu)
c.208T>C (p.Phe70Leu)
n.608T>C
c.85T>C (p.Phe29Leu)
c.235T>C (p.Phe79Leu)
7g.150959659A>TCA369863770KCNH2n.1218T>A
c.385T>A (p.Phe129Ile)
c.208T>A (p.Phe70Ile)
n.608T>A
c.85T>A (p.Phe29Ile)
c.235T>A (p.Phe79Ile)
7g.150959660A>CCA369863771KCNH2n.1217T>G
c.384T>G (p.Asn128Lys)
c.207T>G (p.Asn69Lys)
n.607T>G
c.84T>G (p.Asn28Lys)
c.234T>G (p.Asn78Lys)
7g.150959660A>GCA458646930KCNH2n.1217T>C
c.384T>C (p.Asn128=)
c.207T>C (p.Asn69=)
n.607T>C
c.84T>C (p.Asn28=)
c.234T>C (p.Asn78=)
7g.150959660A>TCA369863772KCNH2n.1217T>A
c.384T>A (p.Asn128Lys)
c.207T>A (p.Asn69Lys)
n.607T>A
c.84T>A (p.Asn28Lys)
c.234T>A (p.Asn78Lys)
7g.150959661T>ACA369863774KCNH2n.1216A>T
c.383A>T (p.Asn128Ile)
c.206A>T (p.Asn69Ile)
n.606A>T
c.83A>T (p.Asn28Ile)
c.233A>T (p.Asn78Ile)
7g.150959661T>CCA008400KCNH2n.1216A>G
c.383A>G (p.Asn128Ser)
c.206A>G (p.Asn69Ser)
n.606A>G
c.83A>G (p.Asn28Ser)
c.233A>G (p.Asn78Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150959661T>GCA369863773KCNH2n.1216A>C
c.383A>C (p.Asn128Thr)
c.206A>C (p.Asn69Thr)
n.606A>C
c.83A>C (p.Asn28Thr)
c.233A>C (p.Asn78Thr)
 ClinVar dbSNP
7g.150959661T=CA1752420003KCNH2n.1216A=
c.383A= (p.Asn128=)
c.206A= (p.Asn69=)
n.606A=
c.83A= (p.Asn28=)
c.233A= (p.Asn78=)
7g.150959662T>ACA369863775KCNH2n.1215A>T
c.382A>T (p.Asn128Tyr)
c.205A>T (p.Asn69Tyr)
n.605A>T
c.82A>T (p.Asn28Tyr)
c.232A>T (p.Asn78Tyr)
7g.150959662T>CCA369863777KCNH2n.1215A>G
c.382A>G (p.Asn128Asp)
c.205A>G (p.Asn69Asp)
n.605A>G
c.82A>G (p.Asn28Asp)
c.232A>G (p.Asn78Asp)
7g.150959662T>GCA369863776KCNH2n.1215A>C
c.382A>C (p.Asn128His)
c.205A>C (p.Asn69His)
n.605A>C
c.82A>C (p.Asn28His)
c.232A>C (p.Asn78His)
7g.150959663G>ACA458646932KCNH2n.1214C>T
c.381C>T (p.Leu127=)
c.204C>T (p.Leu68=)
n.604C>T
c.81C>T (p.Leu27=)
c.231C>T (p.Leu77=)
7g.150959663G>CCA458646933KCNH2n.1214C>G
c.381C>G (p.Leu127=)
c.204C>G (p.Leu68=)
n.604C>G
c.81C>G (p.Leu27=)
c.231C>G (p.Leu77=)
7g.150959663G>TCA458646931KCNH2n.1214C>A
c.381C>A (p.Leu127=)
c.204C>A (p.Leu68=)
n.604C>A
c.81C>A (p.Leu27=)
c.231C>A (p.Leu77=)
7g.150959665_150959667delCA2695208666KCNH2n.1212_1214del
c.379_381del (p.Leu127del)
c.202_204del (p.Leu68del)
n.602_604del
c.79_81del (p.Leu27del)
c.229_231del (p.Leu77del)
7g.150959664A>CCA369863778KCNH2n.1213T>G
c.380T>G (p.Leu127Arg)
c.203T>G (p.Leu68Arg)
n.603T>G
c.80T>G (p.Leu27Arg)
c.230T>G (p.Leu77Arg)
7g.150959664A>GCA369863779KCNH2n.1213T>C
c.380T>C (p.Leu127Pro)
c.203T>C (p.Leu68Pro)
n.603T>C
c.80T>C (p.Leu27Pro)
c.230T>C (p.Leu77Pro)
7g.150959664A>TCA369863780KCNH2n.1213T>A
c.380T>A (p.Leu127His)
c.203T>A (p.Leu68His)
n.603T>A
c.80T>A (p.Leu27His)
c.230T>A (p.Leu77His)
7g.150959665G>ACA008393KCNH2n.1212C>T
c.379C>T (p.Leu127Phe)
c.202C>T (p.Leu68Phe)
n.602C>T
c.79C>T (p.Leu27Phe)
c.229C>T (p.Leu77Phe)
 ClinVar dbSNP COSMIC
7g.150959665G>CCA369863781KCNH2n.1212C>G
c.379C>G (p.Leu127Val)
c.202C>G (p.Leu68Val)
n.602C>G
c.79C>G (p.Leu27Val)
c.229C>G (p.Leu77Val)
7g.150959665G=CA1752420008KCNH2n.1212C=
c.379C= (p.Leu127=)
c.202C= (p.Leu68=)
n.602C=
c.79C= (p.Leu27=)
c.229C= (p.Leu77=)
7g.150959665G>TCA369863782KCNH2n.1212C>A
c.379C>A (p.Leu127Ile)
c.202C>A (p.Leu68Ile)
n.602C>A
c.79C>A (p.Leu27Ile)
c.229C>A (p.Leu77Ile)
7g.150959666G>ACA458646934KCNH2n.1211C>T
c.378C>T (p.Ile126=)
c.201C>T (p.Ile67=)
n.601C>T
c.78C>T (p.Ile26=)
c.228C>T (p.Ile76=)
7g.150959666G>CCA369863783KCNH2n.1211C>G
c.378C>G (p.Ile126Met)
c.201C>G (p.Ile67Met)
n.601C>G
c.78C>G (p.Ile26Met)
c.228C>G (p.Ile76Met)
7g.150959666G>TCA458646935KCNH2n.1211C>A
c.378C>A (p.Ile126=)
c.201C>A (p.Ile67=)
n.601C>A
c.78C>A (p.Ile26=)
c.228C>A (p.Ile76=)
 gnomAD v4
7g.150959666_150959667insTTTTTTCA2525755366KCNH2n.1210_1211insAAAAAA
c.377_378insAAAAAA (p.Ile126_Leu127insLysAsn)
c.200_201insAAAAAA (p.Ile67_Leu68insLysAsn)
n.600_601insAAAAAA
c.77_78insAAAAAA (p.Ile26_Leu27insLysAsn)
c.227_228insAAAAAA (p.Ile76_Leu77insLysAsn)
7g.150959667A=CA1752420012KCNH2n.1210T=
c.377T= (p.Ile126=)
c.200T= (p.Ile67=)
n.600T=
c.77T= (p.Ile26=)
c.227T= (p.Ile76=)
7g.150959667A>CCA369863784KCNH2n.1210T>G
c.377T>G (p.Ile126Ser)
c.200T>G (p.Ile67Ser)
n.600T>G
c.77T>G (p.Ile26Ser)
c.227T>G (p.Ile76Ser)
7g.150959667A>GCA369863785KCNH2n.1210T>C
c.377T>C (p.Ile126Thr)
c.200T>C (p.Ile67Thr)
n.600T>C
c.77T>C (p.Ile26Thr)
c.227T>C (p.Ile76Thr)
7g.150959667A>TCA369863786KCNH2n.1210T>A
c.377T>A (p.Ile126Asn)
c.200T>A (p.Ile67Asn)
n.600T>A
c.77T>A (p.Ile26Asn)
c.227T>A (p.Ile76Asn)
 ClinVar dbSNP
7g.150959668T>ACA369863787KCNH2n.1209A>T
c.376A>T (p.Ile126Phe)
c.199A>T (p.Ile67Phe)
n.599A>T
c.76A>T (p.Ile26Phe)
c.226A>T (p.Ile76Phe)
 ClinVar
7g.150959668T>CCA369863788KCNH2n.1209A>G
c.376A>G (p.Ile126Val)
c.199A>G (p.Ile67Val)
n.599A>G
c.76A>G (p.Ile26Val)
c.226A>G (p.Ile76Val)
 gnomAD v4
7g.150959668T>GCA369863789KCNH2n.1209A>C
c.376A>C (p.Ile126Leu)
c.199A>C (p.Ile67Leu)
n.599A>C
c.76A>C (p.Ile26Leu)
c.226A>C (p.Ile76Leu)
7g.150959668_150959672delCA2511849902KCNH2n.1205_1209del
c.372_376del (p.Met124IlefsTer19)
c.195_199del (p.Met65IlefsTer?)
n.595_599del
c.72_76del (p.Met24IlefsTer19)
c.222_226del (p.Met74IlefsTer19)
c.195_199del (p.Met65IlefsTer19)
7g.150959669G>ACA458646936KCNH2n.1208C>T
c.375C>T (p.Phe125=)
c.198C>T (p.Phe66=)
n.598C>T
c.75C>T (p.Phe25=)
c.225C>T (p.Phe75=)
 COSMIC COSMIC
7g.150959669G>CCA369863790KCNH2n.1208C>G
c.375C>G (p.Phe125Leu)
c.198C>G (p.Phe66Leu)
n.598C>G
c.75C>G (p.Phe25Leu)
c.225C>G (p.Phe75Leu)
7g.150959669G>TCA369863791KCNH2n.1208C>A
c.375C>A (p.Phe125Leu)
c.198C>A (p.Phe66Leu)
n.598C>A
c.75C>A (p.Phe25Leu)
c.225C>A (p.Phe75Leu)
7g.150959670A=CA1752420016KCNH2n.1207T=
c.374T= (p.Phe125=)
c.197T= (p.Phe66=)
n.597T=
c.74T= (p.Phe25=)
c.224T= (p.Phe75=)
7g.150959670A>CCA008385KCNH2n.1207T>G
c.374T>G (p.Phe125Cys)
c.197T>G (p.Phe66Cys)
n.597T>G
c.74T>G (p.Phe25Cys)
c.224T>G (p.Phe75Cys)
 ClinVar dbSNP
7g.150959670A>GCA369863792KCNH2n.1207T>C
c.374T>C (p.Phe125Ser)
c.197T>C (p.Phe66Ser)
n.597T>C
c.74T>C (p.Phe25Ser)
c.224T>C (p.Phe75Ser)
7g.150959670A>TCA369863793KCNH2n.1207T>A
c.374T>A (p.Phe125Tyr)
c.197T>A (p.Phe66Tyr)
n.597T>A
c.74T>A (p.Phe25Tyr)
c.224T>A (p.Phe75Tyr)
7g.150959670_150959671insCCACCA008376KCNH2n.1206_1207insGTGG
c.373_374insGTGG (p.Phe125CysfsTer21)
c.196_197insGTGG (p.Phe66CysfsTer?)
n.596_597insGTGG
c.73_74insGTGG (p.Phe25CysfsTer21)
c.223_224insGTGG (p.Phe75CysfsTer21)
c.196_197insGTGG (p.Phe66CysfsTer21)
 ClinVar dbSNP
7g.150959671A=CA1752420024KCNH2n.1206T=
c.373T= (p.Phe125=)
c.196T= (p.Phe66=)
n.596T=
c.73T= (p.Phe25=)
c.223T= (p.Phe75=)
7g.150959671A>CCA369863794KCNH2n.1206T>G
c.373T>G (p.Phe125Val)
c.196T>G (p.Phe66Val)
n.596T>G
c.73T>G (p.Phe25Val)
c.223T>G (p.Phe75Val)
7g.150959671A>GCA369863795KCNH2n.1206T>C
c.373T>C (p.Phe125Leu)
c.196T>C (p.Phe66Leu)
n.596T>C
c.73T>C (p.Phe25Leu)
c.223T>C (p.Phe75Leu)
 ClinVar dbSNP
7g.150959671A>TCA369863796KCNH2n.1206T>A
c.373T>A (p.Phe125Ile)
c.196T>A (p.Phe66Ile)
n.596T>A
c.73T>A (p.Phe25Ile)
c.223T>A (p.Phe75Ile)
7g.150959672C>ACA369863797KCNH2n.1205G>T
c.372G>T (p.Met124Ile)
c.195G>T (p.Met65Ile)
n.595G>T
c.72G>T (p.Met24Ile)
c.222G>T (p.Met74Ile)
7g.150959672C>GCA369863798KCNH2n.1205G>C
c.372G>C (p.Met124Ile)
c.195G>C (p.Met65Ile)
n.595G>C
c.72G>C (p.Met24Ile)
c.222G>C (p.Met74Ile)
7g.150959672C>TCA369863799KCNH2n.1205G>A
c.372G>A (p.Met124Ile)
c.195G>A (p.Met65Ile)
n.595G>A
c.72G>A (p.Met24Ile)
c.222G>A (p.Met74Ile)
7g.150959673A=CA1752420030KCNH2n.1204T=
c.371T= (p.Met124=)
c.194T= (p.Met65=)
n.594T=
c.71T= (p.Met24=)
c.221T= (p.Met74=)
7g.150959673A>CCA008369KCNH2n.1204T>G
c.371T>G (p.Met124Arg)
c.194T>G (p.Met65Arg)
n.594T>G
c.71T>G (p.Met24Arg)
c.221T>G (p.Met74Arg)
 ClinVar dbSNP
7g.150959673A>GCA008362KCNH2n.1204T>C
c.371T>C (p.Met124Thr)
c.194T>C (p.Met65Thr)
n.594T>C
c.71T>C (p.Met24Thr)
c.221T>C (p.Met74Thr)
 ClinVar dbSNP
7g.150959673A>TCA369863800KCNH2n.1204T>A
c.371T>A (p.Met124Lys)
c.194T>A (p.Met65Lys)
n.594T>A
c.71T>A (p.Met24Lys)
c.221T>A (p.Met74Lys)
7g.150959677_150959679delCA2697549701KCNH2n.1202_1204del
c.369_371del (p.Ile123del)
c.192_194del (p.Ile64del)
n.592_594del
c.69_71del (p.Ile23del)
c.219_221del (p.Ile73del)
 ClinVar
7g.150959674T>ACA369863801KCNH2n.1203A>T
c.370A>T (p.Met124Leu)
c.193A>T (p.Met65Leu)
n.593A>T
c.70A>T (p.Met24Leu)
c.220A>T (p.Met74Leu)
7g.150959674T>CCA369863803KCNH2n.1203A>G
c.370A>G (p.Met124Val)
c.193A>G (p.Met65Val)
n.593A>G
c.70A>G (p.Met24Val)
c.220A>G (p.Met74Val)
 gnomAD v4
7g.150959674T>GCA369863802KCNH2n.1203A>C
c.370A>C (p.Met124Leu)
c.193A>C (p.Met65Leu)
n.593A>C
c.70A>C (p.Met24Leu)
c.220A>C (p.Met74Leu)
 gnomAD v4
7g.150959675G>ACA458646937KCNH2n.1202C>T
c.369C>T (p.Ile123=)
c.192C>T (p.Ile64=)
n.592C>T
c.69C>T (p.Ile23=)
c.219C>T (p.Ile73=)
7g.150959675G>CCA369863804KCNH2n.1202C>G
c.369C>G (p.Ile123Met)
c.192C>G (p.Ile64Met)
n.592C>G
c.69C>G (p.Ile23Met)
c.219C>G (p.Ile73Met)
7g.150959675G>TCA458646938KCNH2n.1202C>A
c.369C>A (p.Ile123=)
c.192C>A (p.Ile64=)
n.592C>A
c.69C>A (p.Ile23=)
c.219C>A (p.Ile73=)
7g.150959676A>CCA369863805KCNH2n.1201T>G
c.368T>G (p.Ile123Ser)
c.191T>G (p.Ile64Ser)
n.591T>G
c.68T>G (p.Ile23Ser)
c.218T>G (p.Ile73Ser)
7g.150959676A>GCA369863806KCNH2n.1201T>C
c.368T>C (p.Ile123Thr)
c.191T>C (p.Ile64Thr)
n.591T>C
c.68T>C (p.Ile23Thr)
c.218T>C (p.Ile73Thr)
7g.150959676A>TCA369863807KCNH2n.1201T>A
c.368T>A (p.Ile123Asn)
c.191T>A (p.Ile64Asn)
n.591T>A
c.68T>A (p.Ile23Asn)
c.218T>A (p.Ile73Asn)
7g.150959677T>ACA369863808KCNH2n.1200A>T
c.367A>T (p.Ile123Phe)
c.190A>T (p.Ile64Phe)
n.590A>T
c.67A>T (p.Ile23Phe)
c.217A>T (p.Ile73Phe)
7g.150959677T>CCA369863809KCNH2n.1200A>G
c.367A>G (p.Ile123Val)
c.190A>G (p.Ile64Val)
n.590A>G
c.67A>G (p.Ile23Val)
c.217A>G (p.Ile73Val)
7g.150959677T>GCA369863810KCNH2n.1200A>C
c.367A>C (p.Ile123Leu)
c.190A>C (p.Ile64Leu)
n.590A>C
c.67A>C (p.Ile23Leu)
c.217A>C (p.Ile73Leu)
 dbSNP
7g.150959678delCA2539179769KCNH2n.1199del
c.366del (p.Ile123SerfsTer10)
c.189del (p.Ile64SerfsTer10)
n.589del
c.66del (p.Ile23SerfsTer10)
c.216del (p.Ile73SerfsTer10)
7g.150959678G>ACA071160KCNH2n.1199C>T
c.366C>T (p.Val122=)
c.189C>T (p.Val63=)
n.589C>T
c.66C>T (p.Val22=)
c.216C>T (p.Val72=)
 gnomAD v4
7g.150959678G>CCA458646940KCNH2n.1199C>G
c.366C>G (p.Val122=)
c.189C>G (p.Val63=)
n.589C>G
c.66C>G (p.Val22=)
c.216C>G (p.Val72=)
7g.150959678G>TCA458646939KCNH2n.1199C>A
c.366C>A (p.Val122=)
c.189C>A (p.Val63=)
n.589C>A
c.66C>A (p.Val22=)
c.216C>A (p.Val72=)
7g.150959679A>CCA369863811KCNH2n.1198T>G
c.365T>G (p.Val122Gly)
c.188T>G (p.Val63Gly)
n.588T>G
c.65T>G (p.Val22Gly)
c.215T>G (p.Val72Gly)
7g.150959679A>GCA369863812KCNH2n.1198T>C
c.365T>C (p.Val122Ala)
c.188T>C (p.Val63Ala)
n.588T>C
c.65T>C (p.Val22Ala)
c.215T>C (p.Val72Ala)
7g.150959679A>TCA369863813KCNH2n.1198T>A
c.365T>A (p.Val122Asp)
c.188T>A (p.Val63Asp)
n.588T>A
c.65T>A (p.Val22Asp)
c.215T>A (p.Val72Asp)
7g.150959680C>ACA369863814KCNH2n.1197G>T
c.364G>T (p.Val122Phe)
c.187G>T (p.Val63Phe)
n.587G>T
c.64G>T (p.Val22Phe)
c.214G>T (p.Val72Phe)
7g.150959680C>GCA369863815KCNH2n.1197G>C
c.364G>C (p.Val122Leu)
c.187G>C (p.Val63Leu)
n.587G>C
c.64G>C (p.Val22Leu)
c.214G>C (p.Val72Leu)
7g.150959680C>TCA369863816KCNH2n.1197G>A
c.364G>A (p.Val122Ile)
c.187G>A (p.Val63Ile)
n.587G>A
c.64G>A (p.Val22Ile)
c.214G>A (p.Val72Ile)
7g.150959681A=CA1752420034KCNH2n.1196T=
c.363T= (p.Ala121=)
c.186T= (p.Ala62=)
n.586T=
c.63T= (p.Ala21=)
c.213T= (p.Ala71=)
7g.150959681A>CCA458646941KCNH2n.1196T>G
c.363T>G (p.Ala121=)
c.186T>G (p.Ala62=)
n.586T>G
c.63T>G (p.Ala21=)
c.213T>G (p.Ala71=)
7g.150959681A>GCA458646942KCNH2n.1196T>C
c.363T>C (p.Ala121=)
c.186T>C (p.Ala62=)
n.586T>C
c.63T>C (p.Ala21=)
c.213T>C (p.Ala71=)
 dbSNP
7g.150959681A>TCA458646943KCNH2n.1196T>A
c.363T>A (p.Ala121=)
c.186T>A (p.Ala62=)
n.586T>A
c.63T>A (p.Ala21=)
c.213T>A (p.Ala71=)
7g.150959682G>ACA369863819KCNH2n.1195C>T
c.362C>T (p.Ala121Val)
c.185C>T (p.Ala62Val)
n.585C>T
c.62C>T (p.Ala21Val)
c.212C>T (p.Ala71Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150959682G>CCA369863817KCNH2n.1195C>G
c.362C>G (p.Ala121Gly)
c.185C>G (p.Ala62Gly)
n.585C>G
c.62C>G (p.Ala21Gly)
c.212C>G (p.Ala71Gly)
7g.150959682G=CA1752420039KCNH2n.1195C=
c.362C= (p.Ala121=)
c.185C= (p.Ala62=)
n.585C=
c.62C= (p.Ala21=)
c.212C= (p.Ala71=)
7g.150959682G>TCA369863818KCNH2n.1195C>A
c.362C>A (p.Ala121Asp)
c.185C>A (p.Ala62Asp)
n.585C>A
c.62C>A (p.Ala21Asp)
c.212C>A (p.Ala71Asp)
7g.150959682_150959683delinsGCCA1752420038KCNH2n.1194_1195delinsGC
c.361_362delinsGC (p.Ala121=)
c.184_185delinsGC (p.Ala62=)
n.584_585delinsGC
c.61_62delinsGC (p.Ala21=)
c.211_212delinsGC (p.Ala71=)

Number of alleles fetched