Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150958121_150958206delinsACGCCTCGGGCTCCA2697549692KCNH2n.1602_1687delinsGAGCCCGAGGCGT
c.769_854delinsGAGCCCGAGGCGT (p.Asn257GlufsTer?)
c.421_506delinsGAGCCCGAGGCGT (p.Asn141GlufsTer?)
n.992_1077delinsGAGCCCGAGGCGT
c.469_554delinsGAGCCCGAGGCGT (p.Asn157GlufsTer?)
c.619_704delinsGAGCCCGAGGCGT (p.Asn207GlufsTer?)
c.592_677delinsGAGCCCGAGGCGT (p.Asn198GlufsTer?)
 ClinVar
7g.150958156_150958168delCA2573141814KCNH2n.1642_1654del
c.809_821del (p.Thr270LysfsTer?)
c.461_473del (p.Thr154LysfsTer?)
n.1032_1044del
c.509_521del (p.Thr170LysfsTer?)
c.659_671del (p.Thr220LysfsTer?)
c.632_644del (p.Thr211LysfsTer?)
 ClinVar dbSNP
7g.150958155C>ACA369862371KCNH2n.1653G>T
c.820G>T (p.Glu274Ter)
c.472G>T (p.Glu158Ter)
n.1043G>T
c.520G>T (p.Glu174Ter)
c.670G>T (p.Glu224Ter)
c.643G>T (p.Glu215Ter)
 gnomAD v4
7g.150958155C>GCA369862373KCNH2n.1653G>C
c.820G>C (p.Glu274Gln)
c.472G>C (p.Glu158Gln)
n.1043G>C
c.520G>C (p.Glu174Gln)
c.670G>C (p.Glu224Gln)
c.643G>C (p.Glu215Gln)
7g.150958155C>TCA369862374KCNH2n.1653G>A
c.820G>A (p.Glu274Lys)
c.472G>A (p.Glu158Lys)
n.1043G>A
c.520G>A (p.Glu174Lys)
c.670G>A (p.Glu224Lys)
c.643G>A (p.Glu215Lys)
7g.150958156T>ACA458871911KCNH2n.1652A>T
c.819A>T (p.Arg273=)
c.471A>T (p.Arg157=)
n.1042A>T
c.519A>T (p.Arg173=)
c.669A>T (p.Arg223=)
c.642A>T (p.Arg214=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958156T>CCA458871913KCNH2n.1652A>G
c.819A>G (p.Arg273=)
c.471A>G (p.Arg157=)
n.1042A>G
c.519A>G (p.Arg173=)
c.669A>G (p.Arg223=)
c.642A>G (p.Arg214=)
 ClinVar gnomAD v4
7g.150958156T>GCA458871914KCNH2n.1652A>C
c.819A>C (p.Arg273=)
c.471A>C (p.Arg157=)
n.1042A>C
c.519A>C (p.Arg173=)
c.669A>C (p.Arg223=)
c.642A>C (p.Arg214=)
7g.150958156T=CA1752417972KCNH2n.1652A=
c.819A= (p.Arg273=)
c.471A= (p.Arg157=)
n.1042A=
c.519A= (p.Arg173=)
c.669A= (p.Arg223=)
c.642A= (p.Arg214=)
7g.150958157delCA2685607525KCNH2n.1651del
c.818del (p.Arg273GlnfsTer?)
c.470del (p.Arg157GlnfsTer?)
n.1041del
c.518del (p.Arg173GlnfsTer?)
c.668del (p.Arg223GlnfsTer?)
c.641del (p.Arg214GlnfsTer?)
 gnomAD v4
7g.150958157C>ACA369862376KCNH2n.1651G>T
c.818G>T (p.Arg273Leu)
c.470G>T (p.Arg157Leu)
n.1041G>T
c.518G>T (p.Arg173Leu)
c.668G>T (p.Arg223Leu)
c.641G>T (p.Arg214Leu)
 gnomAD v4
7g.150958157C=CA1752417975KCNH2n.1651G=
c.818G= (p.Arg273=)
c.470G= (p.Arg157=)
n.1041G=
c.518G= (p.Arg173=)
c.668G= (p.Arg223=)
c.641G= (p.Arg214=)
7g.150958157C>GCA369862377KCNH2n.1651G>C
c.818G>C (p.Arg273Pro)
c.470G>C (p.Arg157Pro)
n.1041G>C
c.518G>C (p.Arg173Pro)
c.668G>C (p.Arg223Pro)
c.641G>C (p.Arg214Pro)
 gnomAD v4
7g.150958157C>TCA008852KCNH2n.1651G>A
c.818G>A (p.Arg273Gln)
c.470G>A (p.Arg157Gln)
n.1041G>A
c.518G>A (p.Arg173Gln)
c.668G>A (p.Arg223Gln)
c.641G>A (p.Arg214Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958159_150958164dupCA2580077687KCNH2n.1646_1651dup
c.813_818dup (p.Arg273_Glu274insSerArg)
c.465_470dup (p.Arg157_Glu158insSerArg)
n.1036_1041dup
c.513_518dup (p.Arg173_Glu174insSerArg)
c.663_668dup (p.Arg223_Glu224insSerArg)
c.636_641dup (p.Arg214_Glu215insSerArg)
 ClinVar
7g.150958157_150958158insTTCA2685607528KCNH2n.1650_1651insAA
c.817_818insAA (p.Arg273GlnfsTer?)
c.469_470insAA (p.Arg157GlnfsTer?)
n.1040_1041insAA
c.517_518insAA (p.Arg173GlnfsTer?)
c.667_668insAA (p.Arg223GlnfsTer?)
c.640_641insAA (p.Arg214GlnfsTer?)
 gnomAD v4
7g.150958158G>ACA369862380KCNH2n.1650C>T
c.817C>T (p.Arg273Ter)
c.469C>T (p.Arg157Ter)
n.1040C>T
c.517C>T (p.Arg173Ter)
c.667C>T (p.Arg223Ter)
c.640C>T (p.Arg214Ter)
 ClinVar dbSNP gnomAD v4
7g.150958158G>CCA369862382KCNH2n.1650C>G
c.817C>G (p.Arg273Gly)
c.469C>G (p.Arg157Gly)
n.1040C>G
c.517C>G (p.Arg173Gly)
c.667C>G (p.Arg223Gly)
c.640C>G (p.Arg214Gly)
 ClinVar dbSNP
7g.150958158G=CA1752417978KCNH2n.1650C=
c.817C= (p.Arg273=)
c.469C= (p.Arg157=)
n.1040C=
c.517C= (p.Arg173=)
c.667C= (p.Arg223=)
c.640C= (p.Arg214=)
7g.150958158G>TCA16605083KCNH2n.1650C>A
c.817C>A (p.Arg273=)
c.469C>A (p.Arg157=)
n.1040C>A
c.517C>A (p.Arg173=)
c.667C>A (p.Arg223=)
c.640C>A (p.Arg214=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958160delCA2685607529KCNH2n.1650del
c.817del (p.Arg273GlufsTer?)
c.469del (p.Arg157GlufsTer?)
n.1040del
c.517del (p.Arg173GlufsTer?)
c.667del (p.Arg223GlufsTer?)
c.640del (p.Arg214GlufsTer?)
 gnomAD v4
7g.150958159G>ACA458871917KCNH2n.1649C>T
c.816C>T (p.Ser272=)
c.468C>T (p.Ser156=)
n.1039C>T
c.516C>T (p.Ser172=)
c.666C>T (p.Ser222=)
c.639C>T (p.Ser213=)
 dbSNP gnomAD v3 gnomAD v4
7g.150958159G>CCA458871919KCNH2n.1649C>G
c.816C>G (p.Ser272=)
c.468C>G (p.Ser156=)
n.1039C>G
c.516C>G (p.Ser172=)
c.666C>G (p.Ser222=)
c.639C>G (p.Ser213=)
 ClinVar dbSNP gnomAD v4
7g.150958159G=CA1752417980KCNH2n.1649C=
c.816C= (p.Ser272=)
c.468C= (p.Ser156=)
n.1039C=
c.516C= (p.Ser172=)
c.666C= (p.Ser222=)
c.639C= (p.Ser213=)
7g.150958159G>TCA458871921KCNH2n.1649C>A
c.816C>A (p.Ser272=)
c.468C>A (p.Ser156=)
n.1039C>A
c.516C>A (p.Ser172=)
c.666C>A (p.Ser222=)
c.639C>A (p.Ser213=)
 gnomAD v4
7g.150958160G>ACA072199KCNH2n.1648C>T
c.815C>T (p.Ser272Phe)
c.467C>T (p.Ser156Phe)
n.1038C>T
c.515C>T (p.Ser172Phe)
c.665C>T (p.Ser222Phe)
c.638C>T (p.Ser213Phe)
 gnomAD v4
7g.150958160G>CCA369862384KCNH2n.1648C>G
c.815C>G (p.Ser272Cys)
c.467C>G (p.Ser156Cys)
n.1038C>G
c.515C>G (p.Ser172Cys)
c.665C>G (p.Ser222Cys)
c.638C>G (p.Ser213Cys)
7g.150958160G>TCA369862386KCNH2n.1648C>A
c.815C>A (p.Ser272Tyr)
c.467C>A (p.Ser156Tyr)
n.1038C>A
c.515C>A (p.Ser172Tyr)
c.665C>A (p.Ser222Tyr)
c.638C>A (p.Ser213Tyr)
 gnomAD v4
7g.150958161A=CA1752417982KCNH2n.1647T=
c.814T= (p.Ser272=)
c.466T= (p.Ser156=)
n.1037T=
c.514T= (p.Ser172=)
c.664T= (p.Ser222=)
c.637T= (p.Ser213=)
7g.150958161A>CCA369862388KCNH2n.1647T>G
c.814T>G (p.Ser272Ala)
c.466T>G (p.Ser156Ala)
n.1037T>G
c.514T>G (p.Ser172Ala)
c.664T>G (p.Ser222Ala)
c.637T>G (p.Ser213Ala)
7g.150958161A>GCA369862390KCNH2n.1647T>C
c.814T>C (p.Ser272Pro)
c.466T>C (p.Ser156Pro)
n.1037T>C
c.514T>C (p.Ser172Pro)
c.664T>C (p.Ser222Pro)
c.637T>C (p.Ser213Pro)
 dbSNP gnomAD v4
7g.150958161A>TCA169081216KCNH2n.1647T>A
c.814T>A (p.Ser272Thr)
c.466T>A (p.Ser156Thr)
n.1037T>A
c.514T>A (p.Ser172Thr)
c.664T>A (p.Ser222Thr)
c.637T>A (p.Ser213Thr)
 dbSNP
7g.150958161_150958163delinsAGCCA1752417984KCNH2n.1645_1647delinsGCT
c.812_814delinsGCT (p.Arg271=)
c.464_466delinsGCT (p.Arg155=)
n.1035_1037delinsGCT
c.512_514delinsGCT (p.Arg171=)
c.662_664delinsGCT (p.Arg221=)
c.635_637delinsGCT (p.Arg212=)
7g.150958162G>ACA169081219KCNH2n.1646C>T
c.813C>T (p.Arg271=)
c.465C>T (p.Arg155=)
n.1036C>T
c.513C>T (p.Arg171=)
c.663C>T (p.Arg221=)
c.636C>T (p.Arg212=)
 ClinVar dbSNP gnomAD v4
7g.150958162G>CCA458871926KCNH2n.1646C>G
c.813C>G (p.Arg271=)
c.465C>G (p.Arg155=)
n.1036C>G
c.513C>G (p.Arg171=)
c.663C>G (p.Arg221=)
c.636C>G (p.Arg212=)
 gnomAD v4
7g.150958162G=CA1752417987KCNH2n.1646C=
c.813C= (p.Arg271=)
c.465C= (p.Arg155=)
n.1036C=
c.513C= (p.Arg171=)
c.663C= (p.Arg221=)
c.636C= (p.Arg212=)
7g.150958162G>TCA458871925KCNH2n.1646C>A
c.813C>A (p.Arg271=)
c.465C>A (p.Arg155=)
n.1036C>A
c.513C>A (p.Arg171=)
c.663C>A (p.Arg221=)
c.636C>A (p.Arg212=)
 gnomAD v4
7g.150958162_150958166delinsGCGCGCA1752417988KCNH2n.1642_1646delinsCGCGC
c.809_813delinsCGCGC (p.Thr270=)
c.461_465delinsCGCGC (p.Thr154=)
n.1032_1036delinsCGCGC
c.509_513delinsCGCGC (p.Thr170=)
c.659_663delinsCGCGC (p.Thr220=)
c.632_636delinsCGCGC (p.Thr211=)
7g.150958165_150958166delCA1752417986KCNH2n.1645_1646del
c.812_813del (p.Arg271LeufsTer?)
c.464_465del (p.Arg155LeufsTer?)
n.1035_1036del
c.512_513del (p.Arg171LeufsTer?)
c.662_663del (p.Arg221LeufsTer?)
c.635_636del (p.Arg212LeufsTer?)
 ClinVar dbSNP
7g.150958163C>ACA369862392KCNH2n.1645G>T
c.812G>T (p.Arg271Leu)
c.464G>T (p.Arg155Leu)
n.1035G>T
c.512G>T (p.Arg171Leu)
c.662G>T (p.Arg221Leu)
c.635G>T (p.Arg212Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958163C=CA1752417992KCNH2n.1645G=
c.812G= (p.Arg271=)
c.464G= (p.Arg155=)
n.1035G=
c.512G= (p.Arg171=)
c.662G= (p.Arg221=)
c.635G= (p.Arg212=)
7g.150958163C>GCA369862396KCNH2n.1645G>C
c.812G>C (p.Arg271Pro)
c.464G>C (p.Arg155Pro)
n.1035G>C
c.512G>C (p.Arg171Pro)
c.662G>C (p.Arg221Pro)
c.635G>C (p.Arg212Pro)
 gnomAD v4
7g.150958163C>TCA008845KCNH2n.1645G>A
c.812G>A (p.Arg271His)
c.464G>A (p.Arg155His)
n.1035G>A
c.512G>A (p.Arg171His)
c.662G>A (p.Arg221His)
c.635G>A (p.Arg212His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958163_150958166delinsGCTTTTCA008822KCNH2n.1642_1645delinsAAAAGC
c.809_812delinsAAAAGC (p.Thr270LysfsTer?)
c.461_464delinsAAAAGC (p.Thr154LysfsTer?)
n.1032_1035delinsAAAAGC
c.509_512delinsAAAAGC (p.Thr170LysfsTer?)
c.659_662delinsAAAAGC (p.Thr220LysfsTer?)
c.632_635delinsAAAAGC (p.Thr211LysfsTer?)
 ClinVar dbSNP
7g.150958163_150958164insTCA658797047KCNH2n.1644_1645insA
c.811_812insA (p.Arg271GlnfsTer?)
c.463_464insA (p.Arg155GlnfsTer?)
n.1034_1035insA
c.511_512insA (p.Arg171GlnfsTer?)
c.661_662insA (p.Arg221GlnfsTer?)
c.634_635insA (p.Arg212GlnfsTer?)
 ClinVar dbSNP
7g.150958164G>ACA369862398KCNH2n.1644C>T
c.811C>T (p.Arg271Cys)
c.463C>T (p.Arg155Cys)
n.1034C>T
c.511C>T (p.Arg171Cys)
c.661C>T (p.Arg221Cys)
c.634C>T (p.Arg212Cys)
 dbSNP gnomAD v4
7g.150958164G>CCA369862400KCNH2n.1644C>G
c.811C>G (p.Arg271Gly)
c.463C>G (p.Arg155Gly)
n.1034C>G
c.511C>G (p.Arg171Gly)
c.661C>G (p.Arg221Gly)
c.634C>G (p.Arg212Gly)
 gnomAD v4
7g.150958164G=CA1752418000KCNH2n.1644C=
c.811C= (p.Arg271=)
c.463C= (p.Arg155=)
n.1034C=
c.511C= (p.Arg171=)
c.661C= (p.Arg221=)
c.634C= (p.Arg212=)
7g.150958164G>TCA369862401KCNH2n.1644C>A
c.811C>A (p.Arg271Ser)
c.463C>A (p.Arg155Ser)
n.1034C>A
c.511C>A (p.Arg171Ser)
c.661C>A (p.Arg221Ser)
c.634C>A (p.Arg212Ser)
 gnomAD v4
7g.150958165C>ACA458871935KCNH2n.1643G>T
c.810G>T (p.Thr270=)
c.462G>T (p.Thr154=)
n.1033G>T
c.510G>T (p.Thr170=)
c.660G>T (p.Thr220=)
c.633G>T (p.Thr211=)
 gnomAD v4
7g.150958165C=CA1752418002KCNH2n.1643G=
c.810G= (p.Thr270=)
c.462G= (p.Thr154=)
n.1033G=
c.510G= (p.Thr170=)
c.660G= (p.Thr220=)
c.633G= (p.Thr211=)
7g.150958165C>GCA458871933KCNH2n.1643G>C
c.810G>C (p.Thr270=)
c.462G>C (p.Thr154=)
n.1033G>C
c.510G>C (p.Thr170=)
c.660G>C (p.Thr220=)
c.633G>C (p.Thr211=)
7g.150958165C>TCA458871934KCNH2n.1643G>A
c.810G>A (p.Thr270=)
c.462G>A (p.Thr154=)
n.1033G>A
c.510G>A (p.Thr170=)
c.660G>A (p.Thr220=)
c.633G>A (p.Thr211=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958166G>ACA369862404KCNH2n.1642C>T
c.809C>T (p.Thr270Met)
c.461C>T (p.Thr154Met)
n.1032C>T
c.509C>T (p.Thr170Met)
c.659C>T (p.Thr220Met)
c.632C>T (p.Thr211Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958166G>CCA369862408KCNH2n.1642C>G
c.809C>G (p.Thr270Arg)
c.461C>G (p.Thr154Arg)
n.1032C>G
c.509C>G (p.Thr170Arg)
c.659C>G (p.Thr220Arg)
c.632C>G (p.Thr211Arg)
 dbSNP gnomAD v4
7g.150958166G=CA1752418004KCNH2n.1642C=
c.809C= (p.Thr270=)
c.461C= (p.Thr154=)
n.1032C=
c.509C= (p.Thr170=)
c.659C= (p.Thr220=)
c.632C= (p.Thr211=)
7g.150958166G>TCA369862406KCNH2n.1642C>A
c.809C>A (p.Thr270Lys)
c.461C>A (p.Thr154Lys)
n.1032C>A
c.509C>A (p.Thr170Lys)
c.659C>A (p.Thr220Lys)
c.632C>A (p.Thr211Lys)
 dbSNP gnomAD v4
7g.150958166_150958170delinsGTCCGCA1752418007KCNH2n.1638_1642delinsCGGAC
c.805_809delinsCGGAC (p.Arg269=)
c.457_461delinsCGGAC (p.Arg153=)
n.1028_1032delinsCGGAC
c.505_509delinsCGGAC (p.Arg169=)
c.655_659delinsCGGAC (p.Arg219=)
c.628_632delinsCGGAC (p.Arg210=)
7g.150958167T>ACA369862409KCNH2n.1641A>T
c.808A>T (p.Thr270Ser)
c.460A>T (p.Thr154Ser)
n.1031A>T
c.508A>T (p.Thr170Ser)
c.658A>T (p.Thr220Ser)
c.631A>T (p.Thr211Ser)
7g.150958167T>CCA369862411KCNH2n.1641A>G
c.808A>G (p.Thr270Ala)
c.460A>G (p.Thr154Ala)
n.1031A>G
c.508A>G (p.Thr170Ala)
c.658A>G (p.Thr220Ala)
c.631A>G (p.Thr211Ala)
 dbSNP gnomAD v4
7g.150958167T>GCA369862412KCNH2n.1641A>C
c.808A>C (p.Thr270Pro)
c.460A>C (p.Thr154Pro)
n.1031A>C
c.508A>C (p.Thr170Pro)
c.658A>C (p.Thr220Pro)
c.631A>C (p.Thr211Pro)
7g.150958167_150958170delinsACTCA658797048KCNH2n.1638_1641delinsAGT
c.805_808delinsAGT (p.Arg269SerfsTer?)
c.457_460delinsAGT (p.Arg153SerfsTer?)
n.1028_1031delinsAGT
c.505_508delinsAGT (p.Arg169SerfsTer?)
c.655_658delinsAGT (p.Arg219SerfsTer?)
c.628_631delinsAGT (p.Arg210SerfsTer?)
 ClinVar dbSNP
7g.150958168C>ACA458871941KCNH2n.1640G>T
c.807G>T (p.Arg269=)
c.459G>T (p.Arg153=)
n.1030G>T
c.507G>T (p.Arg169=)
c.657G>T (p.Arg219=)
c.630G>T (p.Arg210=)
 gnomAD v4
7g.150958168C>GCA458871943KCNH2n.1640G>C
c.807G>C (p.Arg269=)
c.459G>C (p.Arg153=)
n.1030G>C
c.507G>C (p.Arg169=)
c.657G>C (p.Arg219=)
c.630G>C (p.Arg210=)
 gnomAD v4
7g.150958168C>TCA458871942KCNH2n.1640G>A
c.807G>A (p.Arg269=)
c.459G>A (p.Arg153=)
n.1030G>A
c.507G>A (p.Arg169=)
c.657G>A (p.Arg219=)
c.630G>A (p.Arg210=)
 ClinVar gnomAD v4
7g.150958169delCA2685607561KCNH2n.1640del
c.807del (p.Thr270ArgfsTer?)
c.459del (p.Thr154ArgfsTer?)
n.1030del
c.507del (p.Thr170ArgfsTer?)
c.657del (p.Thr220ArgfsTer?)
c.630del (p.Thr211ArgfsTer?)
 gnomAD v4
7g.150958169C>ACA369862415KCNH2n.1639G>T
c.806G>T (p.Arg269Leu)
c.458G>T (p.Arg153Leu)
n.1029G>T
c.506G>T (p.Arg169Leu)
c.656G>T (p.Arg219Leu)
c.629G>T (p.Arg210Leu)
 gnomAD v4
7g.150958169C=CA1752418012KCNH2n.1639G=
c.806G= (p.Arg269=)
c.458G= (p.Arg153=)
n.1029G=
c.506G= (p.Arg169=)
c.656G= (p.Arg219=)
c.629G= (p.Arg210=)
7g.150958169C>GCA369862416KCNH2n.1639G>C
c.806G>C (p.Arg269Pro)
c.458G>C (p.Arg153Pro)
n.1029G>C
c.506G>C (p.Arg169Pro)
c.656G>C (p.Arg219Pro)
c.629G>C (p.Arg210Pro)
 gnomAD v4
7g.150958169C>TCA369862417KCNH2n.1639G>A
c.806G>A (p.Arg269Gln)
c.458G>A (p.Arg153Gln)
n.1029G>A
c.506G>A (p.Arg169Gln)
c.656G>A (p.Arg219Gln)
c.629G>A (p.Arg210Gln)
 dbSNP gnomAD v4
7g.150958170G>ACA008816KCNH2n.1638C>T
c.805C>T (p.Arg269Trp)
c.457C>T (p.Arg153Trp)
n.1028C>T
c.505C>T (p.Arg169Trp)
c.655C>T (p.Arg219Trp)
c.628C>T (p.Arg210Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958170G>CCA369862420KCNH2n.1638C>G
c.805C>G (p.Arg269Gly)
c.457C>G (p.Arg153Gly)
n.1028C>G
c.505C>G (p.Arg169Gly)
c.655C>G (p.Arg219Gly)
c.628C>G (p.Arg210Gly)
7g.150958170G=CA1752418016KCNH2n.1638C=
c.805C= (p.Arg269=)
c.457C= (p.Arg153=)
n.1028C=
c.505C= (p.Arg169=)
c.655C= (p.Arg219=)
c.628C= (p.Arg210=)
7g.150958170G>TCA458871944KCNH2n.1638C>A
c.805C>A (p.Arg269=)
c.457C>A (p.Arg153=)
n.1028C>A
c.505C>A (p.Arg169=)
c.655C>A (p.Arg219=)
c.628C>A (p.Arg210=)
 gnomAD v4
7g.150958172delCA2573141815KCNH2n.1638del
c.805del (p.Arg269GlyfsTer?)
c.457del (p.Arg153GlyfsTer?)
n.1028del
c.505del (p.Arg169GlyfsTer?)
c.655del (p.Arg219GlyfsTer?)
c.628del (p.Arg210GlyfsTer?)
 ClinVar dbSNP
7g.150958171G>ACA458871946KCNH2n.1637C>T
c.804C>T (p.Ala268=)
c.456C>T (p.Ala152=)
n.1027C>T
c.504C>T (p.Ala168=)
c.654C>T (p.Ala218=)
c.627C>T (p.Ala209=)
 dbSNP gnomAD v4
7g.150958171G>CCA458871947KCNH2n.1637C>G
c.804C>G (p.Ala268=)
c.456C>G (p.Ala152=)
n.1027C>G
c.504C>G (p.Ala168=)
c.654C>G (p.Ala218=)
c.627C>G (p.Ala209=)
7g.150958171G=CA1752418018KCNH2n.1637C=
c.804C= (p.Ala268=)
c.456C= (p.Ala152=)
n.1027C=
c.504C= (p.Ala168=)
c.654C= (p.Ala218=)
c.627C= (p.Ala209=)
7g.150958171G>TCA458871948KCNH2n.1637C>A
c.804C>A (p.Ala268=)
c.456C>A (p.Ala152=)
n.1027C>A
c.504C>A (p.Ala168=)
c.654C>A (p.Ala218=)
c.627C>A (p.Ala209=)
 dbSNP gnomAD v4
7g.150958172G>ACA369862422KCNH2n.1636C>T
c.803C>T (p.Ala268Val)
c.455C>T (p.Ala152Val)
n.1026C>T
c.503C>T (p.Ala168Val)
c.653C>T (p.Ala218Val)
c.626C>T (p.Ala209Val)
 ClinVar dbSNP gnomAD v4
7g.150958172G>CCA369862424KCNH2n.1636C>G
c.803C>G (p.Ala268Gly)
c.455C>G (p.Ala152Gly)
n.1026C>G
c.503C>G (p.Ala168Gly)
c.653C>G (p.Ala218Gly)
c.626C>G (p.Ala209Gly)
 ClinVar dbSNP gnomAD v4
7g.150958172G=CA1752418022KCNH2n.1636C=
c.803C= (p.Ala268=)
c.455C= (p.Ala152=)
n.1026C=
c.503C= (p.Ala168=)
c.653C= (p.Ala218=)
c.626C= (p.Ala209=)
7g.150958172G>TCA369862426KCNH2n.1636C>A
c.803C>A (p.Ala268Asp)
c.455C>A (p.Ala152Asp)
n.1026C>A
c.503C>A (p.Ala168Asp)
c.653C>A (p.Ala218Asp)
c.626C>A (p.Ala209Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958173C>ACA369862430KCNH2n.1635G>T
c.802G>T (p.Ala268Ser)
c.454G>T (p.Ala152Ser)
n.1025G>T
c.502G>T (p.Ala168Ser)
c.652G>T (p.Ala218Ser)
c.625G>T (p.Ala209Ser)
 gnomAD v4
7g.150958173C>GCA369862432KCNH2n.1635G>C
c.802G>C (p.Ala268Pro)
c.454G>C (p.Ala152Pro)
n.1025G>C
c.502G>C (p.Ala168Pro)
c.652G>C (p.Ala218Pro)
c.625G>C (p.Ala209Pro)
 gnomAD v4
7g.150958173C>TCA369862428KCNH2n.1635G>A
c.802G>A (p.Ala268Thr)
c.454G>A (p.Ala152Thr)
n.1025G>A
c.502G>A (p.Ala168Thr)
c.652G>A (p.Ala218Thr)
c.625G>A (p.Ala209Thr)
 gnomAD v4
7g.150958174delCA072131KCNH2n.1635del
c.802del (p.Ala268ProfsTer?)
c.454del (p.Ala152ProfsTer?)
n.1025del
c.502del (p.Ala168ProfsTer?)
c.652del (p.Ala218ProfsTer?)
c.625del (p.Ala209ProfsTer?)
 gnomAD v4
7g.150958174C>ACA458871949KCNH2n.1634G>T
c.801G>T (p.Leu267=)
c.453G>T (p.Leu151=)
n.1024G>T
c.501G>T (p.Leu167=)
c.651G>T (p.Leu217=)
c.624G>T (p.Leu208=)
 gnomAD v4
7g.150958174C>GCA458871950KCNH2n.1634G>C
c.801G>C (p.Leu267=)
c.453G>C (p.Leu151=)
n.1024G>C
c.501G>C (p.Leu167=)
c.651G>C (p.Leu217=)
c.624G>C (p.Leu208=)
 gnomAD v4
7g.150958174C>TCA458871953KCNH2n.1634G>A
c.801G>A (p.Leu267=)
c.453G>A (p.Leu151=)
n.1024G>A
c.501G>A (p.Leu167=)
c.651G>A (p.Leu217=)
c.624G>A (p.Leu208=)
 gnomAD v4
7g.150958175A>CCA369862434KCNH2n.1633T>G
c.800T>G (p.Leu267Arg)
c.452T>G (p.Leu151Arg)
n.1023T>G
c.500T>G (p.Leu167Arg)
c.650T>G (p.Leu217Arg)
c.623T>G (p.Leu208Arg)
7g.150958175A>GCA369862438KCNH2n.1633T>C
c.800T>C (p.Leu267Pro)
c.452T>C (p.Leu151Pro)
n.1023T>C
c.500T>C (p.Leu167Pro)
c.650T>C (p.Leu217Pro)
c.623T>C (p.Leu208Pro)
 gnomAD v4
7g.150958175A>TCA369862436KCNH2n.1633T>A
c.800T>A (p.Leu267Gln)
c.452T>A (p.Leu151Gln)
n.1023T>A
c.500T>A (p.Leu167Gln)
c.650T>A (p.Leu217Gln)
c.623T>A (p.Leu208Gln)
 gnomAD v4
7g.150958176G>ACA458871956KCNH2n.1632C>T
c.799C>T (p.Leu267=)
c.451C>T (p.Leu151=)
n.1022C>T
c.499C>T (p.Leu167=)
c.649C>T (p.Leu217=)
c.622C>T (p.Leu208=)
 gnomAD v4
7g.150958176G>CCA369862440KCNH2n.1632C>G
c.799C>G (p.Leu267Val)
c.451C>G (p.Leu151Val)
n.1022C>G
c.499C>G (p.Leu167Val)
c.649C>G (p.Leu217Val)
c.622C>G (p.Leu208Val)
7g.150958176G>TCA369862441KCNH2n.1632C>A
c.799C>A (p.Leu267Met)
c.451C>A (p.Leu151Met)
n.1022C>A
c.499C>A (p.Leu167Met)
c.649C>A (p.Leu217Met)
c.622C>A (p.Leu208Met)
 gnomAD v4
7g.150958177G>ACA169081231KCNH2n.1631C>T
c.798C>T (p.Ser266=)
c.450C>T (p.Ser150=)
n.1021C>T
c.498C>T (p.Ser166=)
c.648C>T (p.Ser216=)
c.621C>T (p.Ser207=)
 ClinVar dbSNP gnomAD v4
7g.150958177G>CCA369862443KCNH2n.1631C>G
c.798C>G (p.Ser266Arg)
c.450C>G (p.Ser150Arg)
n.1021C>G
c.498C>G (p.Ser166Arg)
c.648C>G (p.Ser216Arg)
c.621C>G (p.Ser207Arg)
7g.150958177G=CA1752418025KCNH2n.1631C=
c.798C= (p.Ser266=)
c.450C= (p.Ser150=)
n.1021C=
c.498C= (p.Ser166=)
c.648C= (p.Ser216=)
c.621C= (p.Ser207=)
7g.150958177G>TCA369862445KCNH2n.1631C>A
c.798C>A (p.Ser266Arg)
c.450C>A (p.Ser150Arg)
n.1021C>A
c.498C>A (p.Ser166Arg)
c.648C>A (p.Ser216Arg)
c.621C>A (p.Ser207Arg)
 gnomAD v4
7g.150958178C>ACA369862448KCNH2n.1630G>T
c.797G>T (p.Ser266Ile)
c.449G>T (p.Ser150Ile)
n.1020G>T
c.497G>T (p.Ser166Ile)
c.647G>T (p.Ser216Ile)
c.620G>T (p.Ser207Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958178C=CA1752418030KCNH2n.1630G=
c.797G= (p.Ser266=)
c.449G= (p.Ser150=)
n.1020G=
c.497G= (p.Ser166=)
c.647G= (p.Ser216=)
c.620G= (p.Ser207=)
7g.150958178C>GCA369862450KCNH2n.1630G>C
c.797G>C (p.Ser266Thr)
c.449G>C (p.Ser150Thr)
n.1020G>C
c.497G>C (p.Ser166Thr)
c.647G>C (p.Ser216Thr)
c.620G>C (p.Ser207Thr)
 gnomAD v4
7g.150958178C>TCA369862451KCNH2n.1630G>A
c.797G>A (p.Ser266Asn)
c.449G>A (p.Ser150Asn)
n.1020G>A
c.497G>A (p.Ser166Asn)
c.647G>A (p.Ser216Asn)
c.620G>A (p.Ser207Asn)
 dbSNP gnomAD v4
7g.150958179T>ACA369862454KCNH2n.1629A>T
c.796A>T (p.Ser266Cys)
c.448A>T (p.Ser150Cys)
n.1019A>T
c.496A>T (p.Ser166Cys)
c.646A>T (p.Ser216Cys)
c.619A>T (p.Ser207Cys)
 gnomAD v4
7g.150958179T>CCA369862455KCNH2n.1629A>G
c.796A>G (p.Ser266Gly)
c.448A>G (p.Ser150Gly)
n.1019A>G
c.496A>G (p.Ser166Gly)
c.646A>G (p.Ser216Gly)
c.619A>G (p.Ser207Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958179T>GCA369862457KCNH2n.1629A>C
c.796A>C (p.Ser266Arg)
c.448A>C (p.Ser150Arg)
n.1019A>C
c.496A>C (p.Ser166Arg)
c.646A>C (p.Ser216Arg)
c.619A>C (p.Ser207Arg)
7g.150958179T=CA1752418032KCNH2n.1629A=
c.796A= (p.Ser266=)
c.448A= (p.Ser150=)
n.1019A=
c.496A= (p.Ser166=)
c.646A= (p.Ser216=)
c.619A= (p.Ser207=)
7g.150958180G>ACA458871964KCNH2n.1628C>T
c.795C>T (p.Cys265=)
c.447C>T (p.Cys149=)
n.1018C>T
c.495C>T (p.Cys165=)
c.645C>T (p.Cys215=)
c.618C>T (p.Cys206=)
 gnomAD v4
7g.150958180G>CCA369862458KCNH2n.1628C>G
c.795C>G (p.Cys265Trp)
c.447C>G (p.Cys149Trp)
n.1018C>G
c.495C>G (p.Cys165Trp)
c.645C>G (p.Cys215Trp)
c.618C>G (p.Cys206Trp)
 gnomAD v4
7g.150958180G>TCA369862460KCNH2n.1628C>A
c.795C>A (p.Cys265Ter)
c.447C>A (p.Cys149Ter)
n.1018C>A
c.495C>A (p.Cys165Ter)
c.645C>A (p.Cys215Ter)
c.618C>A (p.Cys206Ter)
 gnomAD v4
7g.150958181C>ACA072127KCNH2n.1627G>T
c.794G>T (p.Cys265Phe)
c.446G>T (p.Cys149Phe)
n.1017G>T
c.494G>T (p.Cys165Phe)
c.644G>T (p.Cys215Phe)
c.617G>T (p.Cys206Phe)
 gnomAD v4
7g.150958181C>GCA072121KCNH2n.1627G>C
c.794G>C (p.Cys265Ser)
c.446G>C (p.Cys149Ser)
n.1017G>C
c.494G>C (p.Cys165Ser)
c.644G>C (p.Cys215Ser)
c.617G>C (p.Cys206Ser)
7g.150958181C>TCA369862463KCNH2n.1627G>A
c.794G>A (p.Cys265Tyr)
c.446G>A (p.Cys149Tyr)
n.1017G>A
c.494G>A (p.Cys165Tyr)
c.644G>A (p.Cys215Tyr)
c.617G>A (p.Cys206Tyr)
 gnomAD v4 COSMIC COSMIC
7g.150958181_150958184delCA2685607585KCNH2n.1624_1627del
c.791_794del (p.Ser264ThrfsTer?)
c.443_446del (p.Ser148ThrfsTer?)
n.1014_1017del
c.491_494del (p.Ser164ThrfsTer?)
c.641_644del (p.Ser214ThrfsTer?)
c.614_617del (p.Ser205ThrfsTer?)
 gnomAD v4
7g.150958182A>CCA369862469KCNH2n.1626T>G
c.793T>G (p.Cys265Gly)
c.445T>G (p.Cys149Gly)
n.1016T>G
c.493T>G (p.Cys165Gly)
c.643T>G (p.Cys215Gly)
c.616T>G (p.Cys206Gly)
 gnomAD v4
7g.150958182A>GCA369862466KCNH2n.1626T>C
c.793T>C (p.Cys265Arg)
c.445T>C (p.Cys149Arg)
n.1016T>C
c.493T>C (p.Cys165Arg)
c.643T>C (p.Cys215Arg)
c.616T>C (p.Cys206Arg)
 gnomAD v4
7g.150958182A>TCA369862467KCNH2n.1626T>A
c.793T>A (p.Cys265Ser)
c.445T>A (p.Cys149Ser)
n.1016T>A
c.493T>A (p.Cys165Ser)
c.643T>A (p.Cys215Ser)
c.616T>A (p.Cys206Ser)
7g.150958183G>ACA458871971KCNH2n.1625C>T
c.792C>T (p.Ser264=)
c.444C>T (p.Ser148=)
n.1015C>T
c.492C>T (p.Ser164=)
c.642C>T (p.Ser214=)
c.615C>T (p.Ser205=)
 gnomAD v4
7g.150958183G>CCA369862471KCNH2n.1625C>G
c.792C>G (p.Ser264Arg)
c.444C>G (p.Ser148Arg)
n.1015C>G
c.492C>G (p.Ser164Arg)
c.642C>G (p.Ser214Arg)
c.615C>G (p.Ser205Arg)
7g.150958183G>TCA369862473KCNH2n.1625C>A
c.792C>A (p.Ser264Arg)
c.444C>A (p.Ser148Arg)
n.1015C>A
c.492C>A (p.Ser164Arg)
c.642C>A (p.Ser214Arg)
c.615C>A (p.Ser205Arg)
 gnomAD v4
7g.150958184C>ACA369862475KCNH2n.1624G>T
c.791G>T (p.Ser264Ile)
c.443G>T (p.Ser148Ile)
n.1014G>T
c.491G>T (p.Ser164Ile)
c.641G>T (p.Ser214Ile)
c.614G>T (p.Ser205Ile)
 gnomAD v4
7g.150958184C>GCA369862477KCNH2n.1624G>C
c.791G>C (p.Ser264Thr)
c.443G>C (p.Ser148Thr)
n.1014G>C
c.491G>C (p.Ser164Thr)
c.641G>C (p.Ser214Thr)
c.614G>C (p.Ser205Thr)
7g.150958184C>TCA072115KCNH2n.1624G>A
c.791G>A (p.Ser264Asn)
c.443G>A (p.Ser148Asn)
n.1014G>A
c.491G>A (p.Ser164Asn)
c.641G>A (p.Ser214Asn)
c.614G>A (p.Ser205Asn)
 gnomAD v4
7g.150958185T>ACA369862479KCNH2n.1623A>T
c.790A>T (p.Ser264Cys)
c.442A>T (p.Ser148Cys)
n.1013A>T
c.490A>T (p.Ser164Cys)
c.640A>T (p.Ser214Cys)
c.613A>T (p.Ser205Cys)
 gnomAD v4
7g.150958185T>CCA369862481KCNH2n.1623A>G
c.790A>G (p.Ser264Gly)
c.442A>G (p.Ser148Gly)
n.1013A>G
c.490A>G (p.Ser164Gly)
c.640A>G (p.Ser214Gly)
c.613A>G (p.Ser205Gly)
 gnomAD v4
7g.150958185T>GCA369862483KCNH2n.1623A>C
c.790A>C (p.Ser264Arg)
c.442A>C (p.Ser148Arg)
n.1013A>C
c.490A>C (p.Ser164Arg)
c.640A>C (p.Ser214Arg)
c.613A>C (p.Ser205Arg)
 ClinVar gnomAD v4
7g.150958186G>ACA072106KCNH2n.1622C>T
c.789C>T (p.Ser263=)
c.441C>T (p.Ser147=)
n.1012C>T
c.489C>T (p.Ser163=)
c.639C>T (p.Ser213=)
c.612C>T (p.Ser204=)
 gnomAD v4
7g.150958186G>CCA458871976KCNH2n.1622C>G
c.789C>G (p.Ser263=)
c.441C>G (p.Ser147=)
n.1012C>G
c.489C>G (p.Ser163=)
c.639C>G (p.Ser213=)
c.612C>G (p.Ser204=)
7g.150958186G>TCA458871978KCNH2n.1622C>A
c.789C>A (p.Ser263=)
c.441C>A (p.Ser147=)
n.1012C>A
c.489C>A (p.Ser163=)
c.639C>A (p.Ser213=)
c.612C>A (p.Ser204=)
 gnomAD v4
7g.150958187delCA2685607591KCNH2n.1622del
c.789del (p.Ser264AlafsTer?)
c.441del (p.Ser148AlafsTer?)
n.1012del
c.489del (p.Ser164AlafsTer?)
c.639del (p.Ser214AlafsTer?)
c.612del (p.Ser205AlafsTer?)
 gnomAD v4
7g.150958188_150958203delCA2573052838KCNH2n.1607_1622del
c.774_789del (p.Asp259AlafsTer?)
c.426_441del (p.Asp143AlafsTer?)
n.997_1012del
c.474_489del (p.Asp159AlafsTer?)
c.624_639del (p.Asp209AlafsTer?)
c.597_612del (p.Asp200AlafsTer?)
 ClinVar dbSNP
7g.150958187G>ACA369862485KCNH2n.1621C>T
c.788C>T (p.Ser263Phe)
c.440C>T (p.Ser147Phe)
n.1011C>T
c.488C>T (p.Ser163Phe)
c.638C>T (p.Ser213Phe)
c.611C>T (p.Ser204Phe)
 dbSNP gnomAD v4
7g.150958187G>CCA369862487KCNH2n.1621C>G
c.788C>G (p.Ser263Cys)
c.440C>G (p.Ser147Cys)
n.1011C>G
c.488C>G (p.Ser163Cys)
c.638C>G (p.Ser213Cys)
c.611C>G (p.Ser204Cys)
7g.150958187G=CA1752418036KCNH2n.1621C=
c.788C= (p.Ser263=)
c.440C= (p.Ser147=)
n.1011C=
c.488C= (p.Ser163=)
c.638C= (p.Ser213=)
c.611C= (p.Ser204=)
7g.150958187G>TCA369862489KCNH2n.1621C>A
c.788C>A (p.Ser263Tyr)
c.440C>A (p.Ser147Tyr)
n.1011C>A
c.488C>A (p.Ser163Tyr)
c.638C>A (p.Ser213Tyr)
c.611C>A (p.Ser204Tyr)
 gnomAD v4
7g.150958188A>CCA369862492KCNH2n.1620T>G
c.787T>G (p.Ser263Ala)
c.439T>G (p.Ser147Ala)
n.1010T>G
c.487T>G (p.Ser163Ala)
c.637T>G (p.Ser213Ala)
c.610T>G (p.Ser204Ala)
7g.150958188A>GCA369862493KCNH2n.1620T>C
c.787T>C (p.Ser263Pro)
c.439T>C (p.Ser147Pro)
n.1010T>C
c.487T>C (p.Ser163Pro)
c.637T>C (p.Ser213Pro)
c.610T>C (p.Ser204Pro)
 gnomAD v4
7g.150958188A>TCA369862490KCNH2n.1620T>A
c.787T>A (p.Ser263Thr)
c.439T>A (p.Ser147Thr)
n.1010T>A
c.487T>A (p.Ser163Thr)
c.637T>A (p.Ser213Thr)
c.610T>A (p.Ser204Thr)
 gnomAD v4
7g.150958189G>ACA458871980KCNH2n.1619C>T
c.786C>T (p.Gly262=)
c.438C>T (p.Gly146=)
n.1009C>T
c.486C>T (p.Gly162=)
c.636C>T (p.Gly212=)
c.609C>T (p.Gly203=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958189G>CCA458871983KCNH2n.1619C>G
c.786C>G (p.Gly262=)
c.438C>G (p.Gly146=)
n.1009C>G
c.486C>G (p.Gly162=)
c.636C>G (p.Gly212=)
c.609C>G (p.Gly203=)
 gnomAD v4
7g.150958189G=CA1752418041KCNH2n.1619C=
c.786C= (p.Gly262=)
c.438C= (p.Gly146=)
n.1009C=
c.486C= (p.Gly162=)
c.636C= (p.Gly212=)
c.609C= (p.Gly203=)
7g.150958189G>TCA040657KCNH2n.1619C>A
c.786C>A (p.Gly262=)
c.438C>A (p.Gly146=)
n.1009C>A
c.486C>A (p.Gly162=)
c.636C>A (p.Gly212=)
c.609C>A (p.Gly203=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958190C>ACA369862497KCNH2n.1618G>T
c.785G>T (p.Gly262Val)
c.437G>T (p.Gly146Val)
n.1008G>T
c.485G>T (p.Gly162Val)
c.635G>T (p.Gly212Val)
c.608G>T (p.Gly203Val)
 gnomAD v4
7g.150958190C>GCA369862498KCNH2n.1618G>C
c.785G>C (p.Gly262Ala)
c.437G>C (p.Gly146Ala)
n.1008G>C
c.485G>C (p.Gly162Ala)
c.635G>C (p.Gly212Ala)
c.608G>C (p.Gly203Ala)
7g.150958190C>TCA369862500KCNH2n.1618G>A
c.785G>A (p.Gly262Asp)
c.437G>A (p.Gly146Asp)
n.1008G>A
c.485G>A (p.Gly162Asp)
c.635G>A (p.Gly212Asp)
c.608G>A (p.Gly203Asp)
 gnomAD v4
7g.150958192delCA2685607606KCNH2n.1618del
c.785del (p.Gly262AlafsTer?)
c.437del (p.Gly146AlafsTer?)
n.1008del
c.485del (p.Gly162AlafsTer?)
c.635del (p.Gly212AlafsTer?)
c.608del (p.Gly203AlafsTer?)
 gnomAD v4
7g.150958191C>ACA369862502KCNH2n.1617G>T
c.784G>T (p.Gly262Cys)
c.436G>T (p.Gly146Cys)
n.1007G>T
c.484G>T (p.Gly162Cys)
c.634G>T (p.Gly212Cys)
c.607G>T (p.Gly203Cys)
 gnomAD v4
7g.150958191C>GCA369862503KCNH2n.1617G>C
c.784G>C (p.Gly262Arg)
c.436G>C (p.Gly146Arg)
n.1007G>C
c.484G>C (p.Gly162Arg)
c.634G>C (p.Gly212Arg)
c.607G>C (p.Gly203Arg)
 gnomAD v4
7g.150958191C>TCA369862504KCNH2n.1617G>A
c.784G>A (p.Gly262Ser)
c.436G>A (p.Gly146Ser)
n.1007G>A
c.484G>A (p.Gly162Ser)
c.634G>A (p.Gly212Ser)
c.607G>A (p.Gly203Ser)
 gnomAD v4
7g.150958192C>ACA458871989KCNH2n.1616G>T
c.783G>T (p.Ser261=)
c.435G>T (p.Ser145=)
n.1006G>T
c.483G>T (p.Ser161=)
c.633G>T (p.Ser211=)
c.606G>T (p.Ser202=)
 gnomAD v4
7g.150958192C=CA1752418045KCNH2n.1616G=
c.783G= (p.Ser261=)
c.435G= (p.Ser145=)
n.1006G=
c.483G= (p.Ser161=)
c.633G= (p.Ser211=)
c.606G= (p.Ser202=)
7g.150958192C>GCA458871990KCNH2n.1616G>C
c.783G>C (p.Ser261=)
c.435G>C (p.Ser145=)
n.1006G>C
c.483G>C (p.Ser161=)
c.633G>C (p.Ser211=)
c.606G>C (p.Ser202=)
 gnomAD v4
7g.150958192C>TCA040641KCNH2n.1616G>A
c.783G>A (p.Ser261=)
c.435G>A (p.Ser145=)
n.1006G>A
c.483G>A (p.Ser161=)
c.633G>A (p.Ser211=)
c.606G>A (p.Ser202=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958193G>ACA369862507KCNH2n.1615C>T
c.782C>T (p.Ser261Leu)
c.434C>T (p.Ser145Leu)
n.1005C>T
c.482C>T (p.Ser161Leu)
c.632C>T (p.Ser211Leu)
c.605C>T (p.Ser202Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958193G>CCA369862508KCNH2n.1615C>G
c.782C>G (p.Ser261Trp)
c.434C>G (p.Ser145Trp)
n.1005C>G
c.482C>G (p.Ser161Trp)
c.632C>G (p.Ser211Trp)
c.605C>G (p.Ser202Trp)
 gnomAD v4
7g.150958193G=CA1752418050KCNH2n.1615C=
c.782C= (p.Ser261=)
c.434C= (p.Ser145=)
n.1005C=
c.482C= (p.Ser161=)
c.632C= (p.Ser211=)
c.605C= (p.Ser202=)
7g.150958193G>TCA369862510KCNH2n.1615C>A
c.782C>A (p.Ser261Ter)
c.434C>A (p.Ser145Ter)
n.1005C>A
c.482C>A (p.Ser161Ter)
c.632C>A (p.Ser211Ter)
c.605C>A (p.Ser202Ter)
 gnomAD v4
7g.150958194A>CCA369862514KCNH2n.1614T>G
c.781T>G (p.Ser261Ala)
c.433T>G (p.Ser145Ala)
n.1004T>G
c.481T>G (p.Ser161Ala)
c.631T>G (p.Ser211Ala)
c.604T>G (p.Ser202Ala)
7g.150958194A>GCA369862516KCNH2n.1614T>C
c.781T>C (p.Ser261Pro)
c.433T>C (p.Ser145Pro)
n.1004T>C
c.481T>C (p.Ser161Pro)
c.631T>C (p.Ser211Pro)
c.604T>C (p.Ser202Pro)
 gnomAD v4
7g.150958194A>TCA369862512KCNH2n.1614T>A
c.781T>A (p.Ser261Thr)
c.433T>A (p.Ser145Thr)
n.1004T>A
c.481T>A (p.Ser161Thr)
c.631T>A (p.Ser211Thr)
c.604T>A (p.Ser202Thr)
 gnomAD v4
7g.150958194_150958201delinsAGGCGTCGCA1752418054KCNH2n.1607_1614delinsCGACGCCT
c.774_781delinsCGACGCCT (p.Pro258=)
c.426_433delinsCGACGCCT (p.Pro142=)
n.997_1004delinsCGACGCCT
c.474_481delinsCGACGCCT (p.Pro158=)
c.624_631delinsCGACGCCT (p.Pro208=)
c.597_604delinsCGACGCCT (p.Pro199=)
7g.150958195G>ACA072095KCNH2n.1613C>T
c.780C>T (p.Ala260=)
c.432C>T (p.Ala144=)
n.1003C>T
c.480C>T (p.Ala160=)
c.630C>T (p.Ala210=)
c.603C>T (p.Ala201=)
 gnomAD v4
7g.150958195G>CCA458872002KCNH2n.1613C>G
c.780C>G (p.Ala260=)
c.432C>G (p.Ala144=)
n.1003C>G
c.480C>G (p.Ala160=)
c.630C>G (p.Ala210=)
c.603C>G (p.Ala201=)
7g.150958195G>TCA458872003KCNH2n.1613C>A
c.780C>A (p.Ala260=)
c.432C>A (p.Ala144=)
n.1003C>A
c.480C>A (p.Ala160=)
c.630C>A (p.Ala210=)
c.603C>A (p.Ala201=)
 gnomAD v4
7g.150958197_150958203delCA916080379KCNH2n.1607_1613del
c.774_780del (p.Asp259ArgfsTer?)
c.426_432del (p.Asp143ArgfsTer?)
n.997_1003del
c.474_480del (p.Asp159ArgfsTer?)
c.624_630del (p.Asp209ArgfsTer?)
c.597_603del (p.Asp200ArgfsTer?)
 ClinVar dbSNP
7g.150958196G>ACA369862519KCNH2n.1612C>T
c.779C>T (p.Ala260Val)
c.431C>T (p.Ala144Val)
n.1002C>T
c.479C>T (p.Ala160Val)
c.629C>T (p.Ala210Val)
c.602C>T (p.Ala201Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958196G>CCA369862521KCNH2n.1612C>G
c.779C>G (p.Ala260Gly)
c.431C>G (p.Ala144Gly)
n.1002C>G
c.479C>G (p.Ala160Gly)
c.629C>G (p.Ala210Gly)
c.602C>G (p.Ala201Gly)
 gnomAD v4
7g.150958196G=CA1752418058KCNH2n.1612C=
c.779C= (p.Ala260=)
c.431C= (p.Ala144=)
n.1002C=
c.479C= (p.Ala160=)
c.629C= (p.Ala210=)
c.602C= (p.Ala201=)
7g.150958196G>TCA369862522KCNH2n.1612C>A
c.779C>A (p.Ala260Asp)
c.431C>A (p.Ala144Asp)
n.1002C>A
c.479C>A (p.Ala160Asp)
c.629C>A (p.Ala210Asp)
c.602C>A (p.Ala201Asp)
 gnomAD v4
7g.150958197C>ACA369862524KCNH2n.1611G>T
c.778G>T (p.Ala260Ser)
c.430G>T (p.Ala144Ser)
n.1001G>T
c.478G>T (p.Ala160Ser)
c.628G>T (p.Ala210Ser)
c.601G>T (p.Ala201Ser)
 gnomAD v4
7g.150958197C=CA1752418061KCNH2n.1611G=
c.778G= (p.Ala260=)
c.430G= (p.Ala144=)
n.1001G=
c.478G= (p.Ala160=)
c.628G= (p.Ala210=)
c.601G= (p.Ala201=)
7g.150958197C>GCA369862526KCNH2n.1611G>C
c.778G>C (p.Ala260Pro)
c.430G>C (p.Ala144Pro)
n.1001G>C
c.478G>C (p.Ala160Pro)
c.628G>C (p.Ala210Pro)
c.601G>C (p.Ala201Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958197C>TCA369862528KCNH2n.1611G>A
c.778G>A (p.Ala260Thr)
c.430G>A (p.Ala144Thr)
n.1001G>A
c.478G>A (p.Ala160Thr)
c.628G>A (p.Ala210Thr)
c.601G>A (p.Ala201Thr)
 ClinVar gnomAD v4
7g.150958198G>ACA169081241KCNH2n.1610C>T
c.777C>T (p.Asp259=)
c.429C>T (p.Asp143=)
n.1000C>T
c.477C>T (p.Asp159=)
c.627C>T (p.Asp209=)
c.600C>T (p.Asp200=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958198G>CCA369862530KCNH2n.1610C>G
c.777C>G (p.Asp259Glu)
c.429C>G (p.Asp143Glu)
n.1000C>G
c.477C>G (p.Asp159Glu)
c.627C>G (p.Asp209Glu)
c.600C>G (p.Asp200Glu)
 dbSNP gnomAD v4
7g.150958198G=CA1752418066KCNH2n.1610C=
c.777C= (p.Asp259=)
c.429C= (p.Asp143=)
n.1000C=
c.477C= (p.Asp159=)
c.627C= (p.Asp209=)
c.600C= (p.Asp200=)
7g.150958198G>TCA369862531KCNH2n.1610C>A
c.777C>A (p.Asp259Glu)
c.429C>A (p.Asp143Glu)
n.1000C>A
c.477C>A (p.Asp159Glu)
c.627C>A (p.Asp209Glu)
c.600C>A (p.Asp200Glu)
 gnomAD v4
7g.150958199T>ACA369862533KCNH2n.1609A>T
c.776A>T (p.Asp259Val)
c.428A>T (p.Asp143Val)
n.999A>T
c.476A>T (p.Asp159Val)
c.626A>T (p.Asp209Val)
c.599A>T (p.Asp200Val)
7g.150958199T>CCA369862535KCNH2n.1609A>G
c.776A>G (p.Asp259Gly)
c.428A>G (p.Asp143Gly)
n.999A>G
c.476A>G (p.Asp159Gly)
c.626A>G (p.Asp209Gly)
c.599A>G (p.Asp200Gly)
 gnomAD v4
7g.150958199T>GCA369862537KCNH2n.1609A>C
c.776A>C (p.Asp259Ala)
c.428A>C (p.Asp143Ala)
n.999A>C
c.476A>C (p.Asp159Ala)
c.626A>C (p.Asp209Ala)
c.599A>C (p.Asp200Ala)
7g.150958200C>ACA369862539KCNH2n.1608G>T
c.775G>T (p.Asp259Tyr)
c.427G>T (p.Asp143Tyr)
n.998G>T
c.475G>T (p.Asp159Tyr)
c.625G>T (p.Asp209Tyr)
c.598G>T (p.Asp200Tyr)
 gnomAD v4
7g.150958200C=CA1752418070KCNH2n.1608G=
c.775G= (p.Asp259=)
c.427G= (p.Asp143=)
n.998G=
c.475G= (p.Asp159=)
c.625G= (p.Asp209=)
c.598G= (p.Asp200=)
7g.150958200C>GCA369862541KCNH2n.1608G>C
c.775G>C (p.Asp259His)
c.427G>C (p.Asp143His)
n.998G>C
c.475G>C (p.Asp159His)
c.625G>C (p.Asp209His)
c.598G>C (p.Asp200His)
7g.150958200C>TCA008804KCNH2n.1608G>A
c.775G>A (p.Asp259Asn)
c.427G>A (p.Asp143Asn)
n.998G>A
c.475G>A (p.Asp159Asn)
c.625G>A (p.Asp209Asn)
c.598G>A (p.Asp200Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958202_150958217delCA2695208633KCNH2n.1593_1608del
c.760_775del (p.His254ThrfsTer?)
c.412_427del (p.His138ThrfsTer?)
n.983_998del
c.460_475del (p.His154ThrfsTer?)
c.610_625del (p.His204ThrfsTer?)
c.583_598del (p.His195ThrfsTer?)
7g.150958201G>ACA458872017KCNH2n.1607C>T
c.774C>T (p.Pro258=)
c.426C>T (p.Pro142=)
n.997C>T
c.474C>T (p.Pro158=)
c.624C>T (p.Pro208=)
c.597C>T (p.Pro199=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958201G>CCA458872016KCNH2n.1607C>G
c.774C>G (p.Pro258=)
c.426C>G (p.Pro142=)
n.997C>G
c.474C>G (p.Pro158=)
c.624C>G (p.Pro208=)
c.597C>G (p.Pro199=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958201G=CA1752418079KCNH2n.1607C=
c.774C= (p.Pro258=)
c.426C= (p.Pro142=)
n.997C=
c.474C= (p.Pro158=)
c.624C= (p.Pro208=)
c.597C= (p.Pro199=)
7g.150958201G>TCA458872014KCNH2n.1607C>A
c.774C>A (p.Pro258=)
c.426C>A (p.Pro142=)
n.997C>A
c.474C>A (p.Pro158=)
c.624C>A (p.Pro208=)
c.597C>A (p.Pro199=)
 gnomAD v4
7g.150958204dupCA354046KCNH2n.1607dup
c.774dup (p.Asp259ArgfsTer?)
c.426dup (p.Asp143ArgfsTer?)
n.997dup
c.474dup (p.Asp159ArgfsTer?)
c.624dup (p.Asp209ArgfsTer?)
c.597dup (p.Asp200ArgfsTer?)
 ClinVar dbSNP
7g.150958204delCA2685607666KCNH2n.1607del
c.774del (p.Asp259ThrfsTer?)
c.426del (p.Asp143ThrfsTer?)
n.997del
c.474del (p.Asp159ThrfsTer?)
c.624del (p.Asp209ThrfsTer?)
c.597del (p.Asp200ThrfsTer?)
 gnomAD v4
7g.150958202G>ACA369862549KCNH2n.1606C>T
c.773C>T (p.Pro258Leu)
c.425C>T (p.Pro142Leu)
n.996C>T
c.473C>T (p.Pro158Leu)
c.623C>T (p.Pro208Leu)
c.596C>T (p.Pro199Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958202G>CCA369862545KCNH2n.1606C>G
c.773C>G (p.Pro258Arg)
c.425C>G (p.Pro142Arg)
n.996C>G
c.473C>G (p.Pro158Arg)
c.623C>G (p.Pro208Arg)
c.596C>G (p.Pro199Arg)
7g.150958202G=CA1752418083KCNH2n.1606C=
c.773C= (p.Pro258=)
c.425C= (p.Pro142=)
n.996C=
c.473C= (p.Pro158=)
c.623C= (p.Pro208=)
c.596C= (p.Pro199=)
7g.150958202G>TCA369862547KCNH2n.1606C>A
c.773C>A (p.Pro258His)
c.425C>A (p.Pro142His)
n.996C>A
c.473C>A (p.Pro158His)
c.623C>A (p.Pro208His)
c.596C>A (p.Pro199His)
 gnomAD v4
7g.150958203G>ACA169081252KCNH2n.1605C>T
c.772C>T (p.Pro258Ser)
c.424C>T (p.Pro142Ser)
n.995C>T
c.472C>T (p.Pro158Ser)
c.622C>T (p.Pro208Ser)
c.595C>T (p.Pro199Ser)
 ClinVar dbSNP gnomAD v4
7g.150958203G>CCA369862551KCNH2n.1605C>G
c.772C>G (p.Pro258Ala)
c.424C>G (p.Pro142Ala)
n.995C>G
c.472C>G (p.Pro158Ala)
c.622C>G (p.Pro208Ala)
c.595C>G (p.Pro199Ala)
 gnomAD v4
7g.150958203G=CA1752418087KCNH2n.1605C=
c.772C= (p.Pro258=)
c.424C= (p.Pro142=)
n.995C=
c.472C= (p.Pro158=)
c.622C= (p.Pro208=)
c.595C= (p.Pro199=)
7g.150958203G>TCA369862553KCNH2n.1605C>A
c.772C>A (p.Pro258Thr)
c.424C>A (p.Pro142Thr)
n.995C>A
c.472C>A (p.Pro158Thr)
c.622C>A (p.Pro208Thr)
c.595C>A (p.Pro199Thr)
 gnomAD v4
7g.150958204G>ACA458872033KCNH2n.1604C>T
c.771C>T (p.Asn257=)
c.423C>T (p.Asn141=)
n.994C>T
c.471C>T (p.Asn157=)
c.621C>T (p.Asn207=)
c.594C>T (p.Asn198=)
 gnomAD v4
7g.150958204G>CCA369862555KCNH2n.1604C>G
c.771C>G (p.Asn257Lys)
c.423C>G (p.Asn141Lys)
n.994C>G
c.471C>G (p.Asn157Lys)
c.621C>G (p.Asn207Lys)
c.594C>G (p.Asn198Lys)
7g.150958204G>TCA369862557KCNH2n.1604C>A
c.771C>A (p.Asn257Lys)
c.423C>A (p.Asn141Lys)
n.994C>A
c.471C>A (p.Asn157Lys)
c.621C>A (p.Asn207Lys)
c.594C>A (p.Asn198Lys)
 gnomAD v4
7g.150958205T>ACA369862559KCNH2n.1603A>T
c.770A>T (p.Asn257Ile)
c.422A>T (p.Asn141Ile)
n.993A>T
c.470A>T (p.Asn157Ile)
c.620A>T (p.Asn207Ile)
c.593A>T (p.Asn198Ile)
 gnomAD v4
7g.150958205T>CCA369862560KCNH2n.1603A>G
c.770A>G (p.Asn257Ser)
c.422A>G (p.Asn141Ser)
n.993A>G
c.470A>G (p.Asn157Ser)
c.620A>G (p.Asn207Ser)
c.593A>G (p.Asn198Ser)
 gnomAD v4
7g.150958205T>GCA369862562KCNH2n.1603A>C
c.770A>C (p.Asn257Thr)
c.422A>C (p.Asn141Thr)
n.993A>C
c.470A>C (p.Asn157Thr)
c.620A>C (p.Asn207Thr)
c.593A>C (p.Asn198Thr)
7g.150958206T>ACA369862564KCNH2n.1602A>T
c.769A>T (p.Asn257Tyr)
c.421A>T (p.Asn141Tyr)
n.992A>T
c.469A>T (p.Asn157Tyr)
c.619A>T (p.Asn207Tyr)
c.592A>T (p.Asn198Tyr)
7g.150958206T>CCA369862566KCNH2n.1602A>G
c.769A>G (p.Asn257Asp)
c.421A>G (p.Asn141Asp)
n.992A>G
c.469A>G (p.Asn157Asp)
c.619A>G (p.Asn207Asp)
c.592A>G (p.Asn198Asp)
 gnomAD v4
7g.150958206T>GCA008794KCNH2n.1602A>C
c.769A>C (p.Asn257His)
c.421A>C (p.Asn141His)
n.992A>C
c.469A>C (p.Asn157His)
c.619A>C (p.Asn207His)
c.592A>C (p.Asn198His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958206T=CA1752418091KCNH2n.1602A=
c.769A= (p.Asn257=)
c.421A= (p.Asn141=)
n.992A=
c.469A= (p.Asn157=)
c.619A= (p.Asn207=)
c.592A= (p.Asn198=)
7g.150958206_150958207delinsTGCA072191KCNH2n.1601_1602delinsCA
c.768_769delinsCA (p.Leu256=)
c.420_421delinsCA (p.Leu140=)
n.991_992delinsCA
c.468_469delinsCA (p.Leu156=)
c.618_619delinsCA (p.Leu206=)
c.591_592delinsCA (p.Leu197=)
7g.150958207delCA2778425885KCNH2n.1601del
c.768del (p.Asn257ThrfsTer?)
c.420del (p.Asn141ThrfsTer?)
n.991del
c.468del (p.Asn157ThrfsTer?)
c.618del (p.Asn207ThrfsTer?)
c.591del (p.Asn198ThrfsTer?)
7g.150958207G>ACA458872034KCNH2n.1601C>T
c.768C>T (p.Leu256=)
c.420C>T (p.Leu140=)
n.991C>T
c.468C>T (p.Leu156=)
c.618C>T (p.Leu206=)
c.591C>T (p.Leu197=)
 dbSNP gnomAD v4
7g.150958207G>CCA458872035KCNH2n.1601C>G
c.768C>G (p.Leu256=)
c.420C>G (p.Leu140=)
n.991C>G
c.468C>G (p.Leu156=)
c.618C>G (p.Leu206=)
c.591C>G (p.Leu197=)
7g.150958207G=CA1752418094KCNH2n.1601C=
c.768C= (p.Leu256=)
c.420C= (p.Leu140=)
n.991C=
c.468C= (p.Leu156=)
c.618C= (p.Leu206=)
c.591C= (p.Leu197=)
7g.150958207G>TCA458872036KCNH2n.1601C>A
c.768C>A (p.Leu256=)
c.420C>A (p.Leu140=)
n.991C>A
c.468C>A (p.Leu156=)
c.618C>A (p.Leu206=)
c.591C>A (p.Leu197=)
 gnomAD v4
7g.150958208_150958221delCA2695208634KCNH2n.1588_1601del
c.755_768del (p.Arg252GlnfsTer?)
c.407_420del (p.Arg136GlnfsTer?)
n.978_991del
c.455_468del (p.Arg152GlnfsTer?)
c.605_618del (p.Arg202GlnfsTer?)
c.578_591del (p.Arg193GlnfsTer?)
7g.150958208A>CCA369862572KCNH2n.1600T>G
c.767T>G (p.Leu256Arg)
c.419T>G (p.Leu140Arg)
n.990T>G
c.467T>G (p.Leu156Arg)
c.617T>G (p.Leu206Arg)
c.590T>G (p.Leu197Arg)
7g.150958208A>GCA369862570KCNH2n.1600T>C
c.767T>C (p.Leu256Pro)
c.419T>C (p.Leu140Pro)
n.990T>C
c.467T>C (p.Leu156Pro)
c.617T>C (p.Leu206Pro)
c.590T>C (p.Leu197Pro)
 ClinVar gnomAD v4
7g.150958208A>TCA369862568KCNH2n.1600T>A
c.767T>A (p.Leu256His)
c.419T>A (p.Leu140His)
n.990T>A
c.467T>A (p.Leu156His)
c.617T>A (p.Leu206His)
c.590T>A (p.Leu197His)
7g.150958208dupCA2697549696KCNH2n.1600dup
c.767dup (p.Asn257GlnfsTer?)
c.419dup (p.Asn141GlnfsTer?)
n.990dup
c.467dup (p.Asn157GlnfsTer?)
c.617dup (p.Asn207GlnfsTer?)
c.590dup (p.Asn198GlnfsTer?)
 ClinVar
7g.150958209G>ACA369862574KCNH2n.1599C>T
c.766C>T (p.Leu256Phe)
c.418C>T (p.Leu140Phe)
n.989C>T
c.466C>T (p.Leu156Phe)
c.616C>T (p.Leu206Phe)
c.589C>T (p.Leu197Phe)
 dbSNP gnomAD v3 gnomAD v4
7g.150958209G>CCA369862575KCNH2n.1599C>G
c.766C>G (p.Leu256Val)
c.418C>G (p.Leu140Val)
n.989C>G
c.466C>G (p.Leu156Val)
c.616C>G (p.Leu206Val)
c.589C>G (p.Leu197Val)
7g.150958209G=CA1752418096KCNH2n.1599C=
c.766C= (p.Leu256=)
c.418C= (p.Leu140=)
n.989C=
c.466C= (p.Leu156=)
c.616C= (p.Leu206=)
c.589C= (p.Leu197=)
7g.150958209G>TCA369862577KCNH2n.1599C>A
c.766C>A (p.Leu256Ile)
c.418C>A (p.Leu140Ile)
n.989C>A
c.466C>A (p.Leu156Ile)
c.616C>A (p.Leu206Ile)
c.589C>A (p.Leu197Ile)
 gnomAD v4
7g.150958211_150958222delCA2685607687KCNH2n.1588_1599del
c.755_766del (p.Arg252_Ser255del)
c.407_418del (p.Arg136_Ser139del)
n.978_989del
c.455_466del (p.Arg152_Ser155del)
c.605_616del (p.Arg202_Ser205del)
c.578_589del (p.Arg193_Ser196del)
 gnomAD v4
7g.150958210G>ACA458872039KCNH2n.1598C>T
c.765C>T (p.Ser255=)
c.417C>T (p.Ser139=)
n.988C>T
c.465C>T (p.Ser155=)
c.615C>T (p.Ser205=)
c.588C>T (p.Ser196=)
 ClinVar dbSNP gnomAD v4
7g.150958210G>CCA369862579KCNH2n.1598C>G
c.765C>G (p.Ser255Arg)
c.417C>G (p.Ser139Arg)
n.988C>G
c.465C>G (p.Ser155Arg)
c.615C>G (p.Ser205Arg)
c.588C>G (p.Ser196Arg)
7g.150958210G>TCA369862581KCNH2n.1598C>A
c.765C>A (p.Ser255Arg)
c.417C>A (p.Ser139Arg)
n.988C>A
c.465C>A (p.Ser155Arg)
c.615C>A (p.Ser205Arg)
c.588C>A (p.Ser196Arg)
 ClinVar gnomAD v4
7g.150958211C>ACA369862582KCNH2n.1597G>T
c.764G>T (p.Ser255Ile)
c.416G>T (p.Ser139Ile)
n.987G>T
c.464G>T (p.Ser155Ile)
c.614G>T (p.Ser205Ile)
c.587G>T (p.Ser196Ile)
 gnomAD v4
7g.150958211C>GCA369862584KCNH2n.1597G>C
c.764G>C (p.Ser255Thr)
c.416G>C (p.Ser139Thr)
n.987G>C
c.464G>C (p.Ser155Thr)
c.614G>C (p.Ser205Thr)
c.587G>C (p.Ser196Thr)
 gnomAD v4
7g.150958211C>TCA369862586KCNH2n.1597G>A
c.764G>A (p.Ser255Asn)
c.416G>A (p.Ser139Asn)
n.987G>A
c.464G>A (p.Ser155Asn)
c.614G>A (p.Ser205Asn)
c.587G>A (p.Ser196Asn)
 gnomAD v4
7g.150958212T>ACA369862588KCNH2n.1596A>T
c.763A>T (p.Ser255Cys)
c.415A>T (p.Ser139Cys)
n.986A>T
c.463A>T (p.Ser155Cys)
c.613A>T (p.Ser205Cys)
c.586A>T (p.Ser196Cys)
7g.150958212T>CCA369862589KCNH2n.1596A>G
c.763A>G (p.Ser255Gly)
c.415A>G (p.Ser139Gly)
n.986A>G
c.463A>G (p.Ser155Gly)
c.613A>G (p.Ser205Gly)
c.586A>G (p.Ser196Gly)
 gnomAD v4
7g.150958212T>GCA369862592KCNH2n.1596A>C
c.763A>C (p.Ser255Arg)
c.415A>C (p.Ser139Arg)
n.986A>C
c.463A>C (p.Ser155Arg)
c.613A>C (p.Ser205Arg)
c.586A>C (p.Ser196Arg)
7g.150958213G>ACA458872052KCNH2n.1595C>T
c.762C>T (p.His254=)
c.414C>T (p.His138=)
n.985C>T
c.462C>T (p.His154=)
c.612C>T (p.His204=)
c.585C>T (p.His195=)
 gnomAD v4
7g.150958213G>CCA008780KCNH2n.1595C>G
c.762C>G (p.His254Gln)
c.414C>G (p.His138Gln)
n.985C>G
c.462C>G (p.His154Gln)
c.612C>G (p.His204Gln)
c.585C>G (p.His195Gln)
 ClinVar dbSNP gnomAD v4
7g.150958213G=CA1752418101KCNH2n.1595C=
c.762C= (p.His254=)
c.414C= (p.His138=)
n.985C=
c.462C= (p.His154=)
c.612C= (p.His204=)
c.585C= (p.His195=)
7g.150958213G>TCA369862594KCNH2n.1595C>A
c.762C>A (p.His254Gln)
c.414C>A (p.His138Gln)
n.985C>A
c.462C>A (p.His154Gln)
c.612C>A (p.His204Gln)
c.585C>A (p.His195Gln)
 gnomAD v4
7g.150958214T>ACA369862598KCNH2n.1594A>T
c.761A>T (p.His254Leu)
c.413A>T (p.His138Leu)
n.984A>T
c.461A>T (p.His154Leu)
c.611A>T (p.His204Leu)
c.584A>T (p.His195Leu)
 gnomAD v4
7g.150958214T>CCA369862600KCNH2n.1594A>G
c.761A>G (p.His254Arg)
c.413A>G (p.His138Arg)
n.984A>G
c.461A>G (p.His154Arg)
c.611A>G (p.His204Arg)
c.584A>G (p.His195Arg)
 dbSNP gnomAD v4
7g.150958214T>GCA369862597KCNH2n.1594A>C
c.761A>C (p.His254Pro)
c.413A>C (p.His138Pro)
n.984A>C
c.461A>C (p.His154Pro)
c.611A>C (p.His204Pro)
c.584A>C (p.His195Pro)
7g.150958214T=CA1752418108KCNH2n.1594A=
c.761A= (p.His254=)
c.413A= (p.His138=)
n.984A=
c.461A= (p.His154=)
c.611A= (p.His204=)
c.584A= (p.His195=)
7g.150958215G>ACA369862602KCNH2n.1593C>T
c.760C>T (p.His254Tyr)
c.412C>T (p.His138Tyr)
n.983C>T
c.460C>T (p.His154Tyr)
c.610C>T (p.His204Tyr)
c.583C>T (p.His195Tyr)
 gnomAD v4
7g.150958215G>CCA369862603KCNH2n.1593C>G
c.760C>G (p.His254Asp)
c.412C>G (p.His138Asp)
n.983C>G
c.460C>G (p.His154Asp)
c.610C>G (p.His204Asp)
c.583C>G (p.His195Asp)
 gnomAD v4
7g.150958215G>TCA369862605KCNH2n.1593C>A
c.760C>A (p.His254Asn)
c.412C>A (p.His138Asn)
n.983C>A
c.460C>A (p.His154Asn)
c.610C>A (p.His204Asn)
c.583C>A (p.His195Asn)
 gnomAD v4
7g.150958217_150958218delCA2695208635KCNH2n.1592_1593del
c.759_760del (p.His254GlnfsTer?)
c.411_412del (p.His138GlnfsTer?)
n.982_983del
c.459_460del (p.His154GlnfsTer?)
c.609_610del (p.His204GlnfsTer?)
c.582_583del (p.His195GlnfsTer?)
7g.150958217_150958234dupCA2685607721KCNH2n.1576_1593dup
c.743_760dup (p.Ala253_His254insLeuProSerProArgAla)
c.395_412dup (p.Ala137_His138insLeuProSerProArgAla)
n.966_983dup
c.443_460dup (p.Ala153_His154insLeuProSerProArgAla)
c.593_610dup (p.Ala203_His204insLeuProSerProArgAla)
c.566_583dup (p.Ala194_His195insLeuProSerProArgAla)
 gnomAD v4
7g.150958216C>ACA458872055KCNH2n.1592G>T
c.759G>T (p.Ala253=)
c.411G>T (p.Ala137=)
n.982G>T
c.459G>T (p.Ala153=)
c.609G>T (p.Ala203=)
c.582G>T (p.Ala194=)
 gnomAD v4
7g.150958216C=CA1752418110KCNH2n.1592G=
c.759G= (p.Ala253=)
c.411G= (p.Ala137=)
n.982G=
c.459G= (p.Ala153=)
c.609G= (p.Ala203=)
c.582G= (p.Ala194=)
7g.150958216C>GCA458872056KCNH2n.1592G>C
c.759G>C (p.Ala253=)
c.411G>C (p.Ala137=)
n.982G>C
c.459G>C (p.Ala153=)
c.609G>C (p.Ala203=)
c.582G>C (p.Ala194=)
 gnomAD v4
7g.150958216C>TCA458872058KCNH2n.1592G>A
c.759G>A (p.Ala253=)
c.411G>A (p.Ala137=)
n.982G>A
c.459G>A (p.Ala153=)
c.609G>A (p.Ala203=)
c.582G>A (p.Ala194=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958217G>ACA369862607KCNH2n.1591C>T
c.758C>T (p.Ala253Val)
c.410C>T (p.Ala137Val)
n.981C>T
c.458C>T (p.Ala153Val)
c.608C>T (p.Ala203Val)
c.581C>T (p.Ala194Val)
 gnomAD v4
7g.150958217G>CCA008771KCNH2n.1591C>G
c.758C>G (p.Ala253Gly)
c.410C>G (p.Ala137Gly)
n.981C>G
c.458C>G (p.Ala153Gly)
c.608C>G (p.Ala203Gly)
c.581C>G (p.Ala194Gly)
 ClinVar dbSNP
7g.150958217G=CA1752418113KCNH2n.1591C=
c.758C= (p.Ala253=)
c.410C= (p.Ala137=)
n.981C=
c.458C= (p.Ala153=)
c.608C= (p.Ala203=)
c.581C= (p.Ala194=)
7g.150958217G>TCA369862609KCNH2n.1591C>A
c.758C>A (p.Ala253Glu)
c.410C>A (p.Ala137Glu)
n.981C>A
c.458C>A (p.Ala153Glu)
c.608C>A (p.Ala203Glu)
c.581C>A (p.Ala194Glu)
 gnomAD v4
7g.150958218C>ACA369862612KCNH2n.1590G>T
c.757G>T (p.Ala253Ser)
c.409G>T (p.Ala137Ser)
n.980G>T
c.457G>T (p.Ala153Ser)
c.607G>T (p.Ala203Ser)
c.580G>T (p.Ala194Ser)
 gnomAD v4
7g.150958218C>GCA369862613KCNH2n.1590G>C
c.757G>C (p.Ala253Pro)
c.409G>C (p.Ala137Pro)
n.980G>C
c.457G>C (p.Ala153Pro)
c.607G>C (p.Ala203Pro)
c.580G>C (p.Ala194Pro)
7g.150958218C>TCA369862615KCNH2n.1590G>A
c.757G>A (p.Ala253Thr)
c.409G>A (p.Ala137Thr)
n.980G>A
c.457G>A (p.Ala153Thr)
c.607G>A (p.Ala203Thr)
c.580G>A (p.Ala194Thr)
 gnomAD v4
7g.150958220dupCA2739278348KCNH2n.1590dup
c.757dup (p.Ala253GlyfsTer?)
c.409dup (p.Ala137GlyfsTer?)
n.980dup
c.457dup (p.Ala153GlyfsTer?)
c.607dup (p.Ala203GlyfsTer?)
c.580dup (p.Ala194GlyfsTer?)
 ClinVar
7g.150958220delCA2685607731KCNH2n.1590del
c.757del (p.Ala253ArgfsTer?)
c.409del (p.Ala137ArgfsTer?)
n.980del
c.457del (p.Ala153ArgfsTer?)
c.607del (p.Ala203ArgfsTer?)
c.580del (p.Ala194ArgfsTer?)
 gnomAD v4
7g.150958219C>ACA458872071KCNH2n.1589G>T
c.756G>T (p.Arg252=)
c.408G>T (p.Arg136=)
n.979G>T
c.456G>T (p.Arg152=)
c.606G>T (p.Arg202=)
c.579G>T (p.Arg193=)
 gnomAD v4
7g.150958219C>GCA458872072KCNH2n.1589G>C
c.756G>C (p.Arg252=)
c.408G>C (p.Arg136=)
n.979G>C
c.456G>C (p.Arg152=)
c.606G>C (p.Arg202=)
c.579G>C (p.Arg193=)
7g.150958219C>TCA458872074KCNH2n.1589G>A
c.756G>A (p.Arg252=)
c.408G>A (p.Arg136=)
n.979G>A
c.456G>A (p.Arg152=)
c.606G>A (p.Arg202=)
c.579G>A (p.Arg193=)
 ClinVar dbSNP gnomAD v4
7g.150958219_150958221delCA2695208636KCNH2n.1587_1589del
c.754_756del (p.Arg252del)
c.406_408del (p.Arg136del)
n.977_979del
c.454_456del (p.Arg152del)
c.604_606del (p.Arg202del)
c.577_579del (p.Arg193del)
7g.150958220C>ACA369862617KCNH2n.1588G>T
c.755G>T (p.Arg252Leu)
c.407G>T (p.Arg136Leu)
n.978G>T
c.455G>T (p.Arg152Leu)
c.605G>T (p.Arg202Leu)
c.578G>T (p.Arg193Leu)
 gnomAD v4
7g.150958220C=CA1752418117KCNH2n.1588G=
c.755G= (p.Arg252=)
c.407G= (p.Arg136=)
n.978G=
c.455G= (p.Arg152=)
c.605G= (p.Arg202=)
c.578G= (p.Arg193=)
7g.150958220C>GCA369862618KCNH2n.1588G>C
c.755G>C (p.Arg252Pro)
c.407G>C (p.Arg136Pro)
n.978G>C
c.455G>C (p.Arg152Pro)
c.605G>C (p.Arg202Pro)
c.578G>C (p.Arg193Pro)
 gnomAD v4
7g.150958220C>TCA008760KCNH2n.1588G>A
c.755G>A (p.Arg252Gln)
c.407G>A (p.Arg136Gln)
n.978G>A
c.455G>A (p.Arg152Gln)
c.605G>A (p.Arg202Gln)
c.578G>A (p.Arg193Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958221G>ACA169081266KCNH2n.1587C>T
c.754C>T (p.Arg252Trp)
c.406C>T (p.Arg136Trp)
n.977C>T
c.454C>T (p.Arg152Trp)
c.604C>T (p.Arg202Trp)
c.577C>T (p.Arg193Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958221G>CCA008755KCNH2n.1587C>G
c.754C>G (p.Arg252Gly)
c.406C>G (p.Arg136Gly)
n.977C>G
c.454C>G (p.Arg152Gly)
c.604C>G (p.Arg202Gly)
c.577C>G (p.Arg193Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958221G=CA1752418128KCNH2n.1587C=
c.754C= (p.Arg252=)
c.406C= (p.Arg136=)
n.977C=
c.454C= (p.Arg152=)
c.604C= (p.Arg202=)
c.577C= (p.Arg193=)
7g.150958221G>TCA169081268KCNH2n.1587C>A
c.754C>A (p.Arg252=)
c.406C>A (p.Arg136=)
n.977C>A
c.454C>A (p.Arg152=)
c.604C>A (p.Arg202=)
c.577C>A (p.Arg193=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958224delCA2685607759KCNH2n.1587del
c.754del (p.Arg252GlyfsTer?)
c.406del (p.Arg136GlyfsTer?)
n.977del
c.454del (p.Arg152GlyfsTer?)
c.604del (p.Arg202GlyfsTer?)
c.577del (p.Arg193GlyfsTer?)
 gnomAD v4
7g.150958223_150958242dupCA305302KCNH2n.1568_1587dup
c.735_754dup (p.Arg252ProfsTer?)
c.387_406dup (p.Arg136ProfsTer?)
n.958_977dup
c.435_454dup (p.Arg152ProfsTer?)
c.585_604dup (p.Arg202ProfsTer?)
c.558_577dup (p.Arg193ProfsTer?)
 ClinVar dbSNP
7g.150958222G>ACA458872083KCNH2n.1586C>T
c.753C>T (p.Pro251=)
c.405C>T (p.Pro135=)
n.976C>T
c.453C>T (p.Pro151=)
c.603C>T (p.Pro201=)
c.576C>T (p.Pro192=)
 gnomAD v4
7g.150958222G>CCA458872084KCNH2n.1586C>G
c.753C>G (p.Pro251=)
c.405C>G (p.Pro135=)
n.976C>G
c.453C>G (p.Pro151=)
c.603C>G (p.Pro201=)
c.576C>G (p.Pro192=)
7g.150958222G>TCA458872086KCNH2n.1586C>A
c.753C>A (p.Pro251=)
c.405C>A (p.Pro135=)
n.976C>A
c.453C>A (p.Pro151=)
c.603C>A (p.Pro201=)
c.576C>A (p.Pro192=)
 gnomAD v4
7g.150958223G>ACA369862628KCNH2n.1585C>T
c.752C>T (p.Pro251Leu)
c.404C>T (p.Pro135Leu)
n.975C>T
c.452C>T (p.Pro151Leu)
c.602C>T (p.Pro201Leu)
c.575C>T (p.Pro192Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958223G>CCA369862630KCNH2n.1585C>G
c.752C>G (p.Pro251Arg)
c.404C>G (p.Pro135Arg)
n.975C>G
c.452C>G (p.Pro151Arg)
c.602C>G (p.Pro201Arg)
c.575C>G (p.Pro192Arg)
7g.150958223G=CA1752418131KCNH2n.1585C=
c.752C= (p.Pro251=)
c.404C= (p.Pro135=)
n.975C=
c.452C= (p.Pro151=)
c.602C= (p.Pro201=)
c.575C= (p.Pro192=)
7g.150958223G>TCA369862632KCNH2n.1585C>A
c.752C>A (p.Pro251His)
c.404C>A (p.Pro135His)
n.975C>A
c.452C>A (p.Pro151His)
c.602C>A (p.Pro201His)
c.575C>A (p.Pro192His)
 gnomAD v4
7g.150958224G>ACA008748KCNH2n.1584C>T
c.751C>T (p.Pro251Ser)
c.403C>T (p.Pro135Ser)
n.974C>T
c.451C>T (p.Pro151Ser)
c.601C>T (p.Pro201Ser)
c.574C>T (p.Pro192Ser)
 ClinVar dbSNP gnomAD v4
7g.150958224G>CCA008740KCNH2n.1584C>G
c.751C>G (p.Pro251Ala)
c.403C>G (p.Pro135Ala)
n.974C>G
c.451C>G (p.Pro151Ala)
c.601C>G (p.Pro201Ala)
c.574C>G (p.Pro192Ala)
 ClinVar dbSNP
7g.150958224G=CA1752418136KCNH2n.1584C=
c.751C= (p.Pro251=)
c.403C= (p.Pro135=)
n.974C=
c.451C= (p.Pro151=)
c.601C= (p.Pro201=)
c.574C= (p.Pro192=)
7g.150958224G>TCA369862636KCNH2n.1584C>A
c.751C>A (p.Pro251Thr)
c.403C>A (p.Pro135Thr)
n.974C>A
c.451C>A (p.Pro151Thr)
c.601C>A (p.Pro201Thr)
c.574C>A (p.Pro192Thr)
 gnomAD v4
7g.150958224_150958225delinsAGCA2573141817KCNH2n.1583_1584delinsCT
c.750_751delinsCT (p.Pro251Ser)
c.402_403delinsCT (p.Pro135Ser)
n.973_974delinsCT
c.450_451delinsCT (p.Pro151Ser)
c.600_601delinsCT (p.Pro201Ser)
c.573_574delinsCT (p.Pro192Ser)
 ClinVar dbSNP
7g.150958225C>ACA458872088KCNH2n.1583G>T
c.750G>T (p.Ser250=)
c.402G>T (p.Ser134=)
n.973G>T
c.450G>T (p.Ser150=)
c.600G>T (p.Ser200=)
c.573G>T (p.Ser191=)
 dbSNP gnomAD v4
7g.150958225C=CA1752418140KCNH2n.1583G=
c.750G= (p.Ser250=)
c.402G= (p.Ser134=)
n.973G=
c.450G= (p.Ser150=)
c.600G= (p.Ser200=)
c.573G= (p.Ser191=)
7g.150958225C>GCA458872090KCNH2n.1583G>C
c.750G>C (p.Ser250=)
c.402G>C (p.Ser134=)
n.973G>C
c.450G>C (p.Ser150=)
c.600G>C (p.Ser200=)
c.573G>C (p.Ser191=)
 dbSNP gnomAD v4
7g.150958225C>TCA458872089KCNH2n.1583G>A
c.750G>A (p.Ser250=)
c.402G>A (p.Ser134=)
n.973G>A
c.450G>A (p.Ser150=)
c.600G>A (p.Ser200=)
c.573G>A (p.Ser191=)
 ClinVar gnomAD v4
7g.150958226G>ACA369862638KCNH2n.1582C>T
c.749C>T (p.Ser250Leu)
c.401C>T (p.Ser134Leu)
n.972C>T
c.449C>T (p.Ser150Leu)
c.599C>T (p.Ser200Leu)
c.572C>T (p.Ser191Leu)
 dbSNP gnomAD v4
7g.150958226G>CCA369862640KCNH2n.1582C>G
c.749C>G (p.Ser250Trp)
c.401C>G (p.Ser134Trp)
n.972C>G
c.449C>G (p.Ser150Trp)
c.599C>G (p.Ser200Trp)
c.572C>G (p.Ser191Trp)
7g.150958226G=CA1752418142KCNH2n.1582C=
c.749C= (p.Ser250=)
c.401C= (p.Ser134=)
n.972C=
c.449C= (p.Ser150=)
c.599C= (p.Ser200=)
c.572C= (p.Ser191=)
7g.150958226G>TCA008733KCNH2n.1582C>A
c.749C>A (p.Ser250Ter)
c.401C>A (p.Ser134Ter)
n.972C>A
c.449C>A (p.Ser150Ter)
c.599C>A (p.Ser200Ter)
c.572C>A (p.Ser191Ter)
 ClinVar dbSNP gnomAD v4
7g.150958227A>CCA369862643KCNH2n.1581T>G
c.748T>G (p.Ser250Ala)
c.400T>G (p.Ser134Ala)
n.971T>G
c.448T>G (p.Ser150Ala)
c.598T>G (p.Ser200Ala)
c.571T>G (p.Ser191Ala)
7g.150958227A>GCA369862645KCNH2n.1581T>C
c.748T>C (p.Ser250Pro)
c.400T>C (p.Ser134Pro)
n.971T>C
c.448T>C (p.Ser150Pro)
c.598T>C (p.Ser200Pro)
c.571T>C (p.Ser191Pro)
 gnomAD v4
7g.150958227A>TCA369862642KCNH2n.1581T>A
c.748T>A (p.Ser250Thr)
c.400T>A (p.Ser134Thr)
n.971T>A
c.448T>A (p.Ser150Thr)
c.598T>A (p.Ser200Thr)
c.571T>A (p.Ser191Thr)
 ClinVar dbSNP
7g.150958228T>ACA458872096KCNH2n.1580A>T
c.747A>T (p.Pro249=)
c.399A>T (p.Pro133=)
n.970A>T
c.447A>T (p.Pro149=)
c.597A>T (p.Pro199=)
c.570A>T (p.Pro190=)
7g.150958228T>CCA458872097KCNH2n.1580A>G
c.747A>G (p.Pro249=)
c.399A>G (p.Pro133=)
n.970A>G
c.447A>G (p.Pro149=)
c.597A>G (p.Pro199=)
c.570A>G (p.Pro190=)
 ClinVar dbSNP gnomAD v4
7g.150958228T>GCA458872098KCNH2n.1580A>C
c.747A>C (p.Pro249=)
c.399A>C (p.Pro133=)
n.970A>C
c.447A>C (p.Pro149=)
c.597A>C (p.Pro199=)
c.570A>C (p.Pro190=)
7g.150958229G>ACA369862649KCNH2n.1579C>T
c.746C>T (p.Pro249Leu)
c.398C>T (p.Pro133Leu)
n.969C>T
c.446C>T (p.Pro149Leu)
c.596C>T (p.Pro199Leu)
c.569C>T (p.Pro190Leu)
 dbSNP gnomAD v4
7g.150958229G>CCA369862648KCNH2n.1579C>G
c.746C>G (p.Pro249Arg)
c.398C>G (p.Pro133Arg)
n.969C>G
c.446C>G (p.Pro149Arg)
c.596C>G (p.Pro199Arg)
c.569C>G (p.Pro190Arg)
7g.150958229G=CA1752418146KCNH2n.1579C=
c.746C= (p.Pro249=)
c.398C= (p.Pro133=)
n.969C=
c.446C= (p.Pro149=)
c.596C= (p.Pro199=)
c.569C= (p.Pro190=)
7g.150958229G>TCA369862651KCNH2n.1579C>A
c.746C>A (p.Pro249Gln)
c.398C>A (p.Pro133Gln)
n.969C>A
c.446C>A (p.Pro149Gln)
c.596C>A (p.Pro199Gln)
c.569C>A (p.Pro190Gln)
 gnomAD v4
7g.150958231delCA2582341955KCNH2n.1579del
c.746del (p.Pro249HisfsTer?)
c.398del (p.Pro133HisfsTer?)
n.969del
c.446del (p.Pro149HisfsTer?)
c.596del (p.Pro199HisfsTer?)
c.569del (p.Pro190HisfsTer?)
 ClinVar gnomAD v4
7g.150958230G>ACA369862654KCNH2n.1578C>T
c.745C>T (p.Pro249Ser)
c.397C>T (p.Pro133Ser)
n.968C>T
c.445C>T (p.Pro149Ser)
c.595C>T (p.Pro199Ser)
c.568C>T (p.Pro190Ser)
 gnomAD v4
7g.150958230G>CCA369862655KCNH2n.1578C>G
c.745C>G (p.Pro249Ala)
c.397C>G (p.Pro133Ala)
n.968C>G
c.445C>G (p.Pro149Ala)
c.595C>G (p.Pro199Ala)
c.568C>G (p.Pro190Ala)
7g.150958230G>TCA369862657KCNH2n.1578C>A
c.745C>A (p.Pro249Thr)
c.397C>A (p.Pro133Thr)
n.968C>A
c.445C>A (p.Pro149Thr)
c.595C>A (p.Pro199Thr)
c.568C>A (p.Pro190Thr)
 gnomAD v4
7g.150958231G>ACA458872107KCNH2n.1577C>T
c.744C>T (p.Leu248=)
c.396C>T (p.Leu132=)
n.967C>T
c.444C>T (p.Leu148=)
c.594C>T (p.Leu198=)
c.567C>T (p.Leu189=)
 gnomAD v4
7g.150958231G>CCA458872111KCNH2n.1577C>G
c.744C>G (p.Leu248=)
c.396C>G (p.Leu132=)
n.967C>G
c.444C>G (p.Leu148=)
c.594C>G (p.Leu198=)
c.567C>G (p.Leu189=)
 ClinVar dbSNP gnomAD v4
7g.150958231G=CA1752418149KCNH2n.1577C=
c.744C= (p.Leu248=)
c.396C= (p.Leu132=)
n.967C=
c.444C= (p.Leu148=)
c.594C= (p.Leu198=)
c.567C= (p.Leu189=)
7g.150958231G>TCA458872113KCNH2n.1577C>A
c.744C>A (p.Leu248=)
c.396C>A (p.Leu132=)
n.967C>A
c.444C>A (p.Leu148=)
c.594C>A (p.Leu198=)
c.567C>A (p.Leu189=)
 gnomAD v4
7g.150958232A=CA1752418150KCNH2n.1576T=
c.743T= (p.Leu248=)
c.395T= (p.Leu132=)
n.966T=
c.443T= (p.Leu148=)
c.593T= (p.Leu198=)
c.566T= (p.Leu189=)
7g.150958232A>CCA369862659KCNH2n.1576T>G
c.743T>G (p.Leu248Arg)
c.395T>G (p.Leu132Arg)
n.966T>G
c.443T>G (p.Leu148Arg)
c.593T>G (p.Leu198Arg)
c.566T>G (p.Leu189Arg)
 ClinVar dbSNP
7g.150958232A>GCA369862661KCNH2n.1576T>C
c.743T>C (p.Leu248Pro)
c.395T>C (p.Leu132Pro)
n.966T>C
c.443T>C (p.Leu148Pro)
c.593T>C (p.Leu198Pro)
c.566T>C (p.Leu189Pro)
 gnomAD v4
7g.150958232A>TCA369862662KCNH2n.1576T>A
c.743T>A (p.Leu248His)
c.395T>A (p.Leu132His)
n.966T>A
c.443T>A (p.Leu148His)
c.593T>A (p.Leu198His)
c.566T>A (p.Leu189His)
7g.150958233G>ACA369862664KCNH2n.1575C>T
c.742C>T (p.Leu248Phe)
c.394C>T (p.Leu132Phe)
n.965C>T
c.442C>T (p.Leu148Phe)
c.592C>T (p.Leu198Phe)
c.565C>T (p.Leu189Phe)
 gnomAD v4
7g.150958233G>CCA369862666KCNH2n.1575C>G
c.742C>G (p.Leu248Val)
c.394C>G (p.Leu132Val)
n.965C>G
c.442C>G (p.Leu148Val)
c.592C>G (p.Leu198Val)
c.565C>G (p.Leu189Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958233G=CA1752418151KCNH2n.1575C=
c.742C= (p.Leu248=)
c.394C= (p.Leu132=)
n.965C=
c.442C= (p.Leu148=)
c.592C= (p.Leu198=)
c.565C= (p.Leu189=)
7g.150958233G>TCA369862667KCNH2n.1575C>A
c.742C>A (p.Leu248Ile)
c.394C>A (p.Leu132Ile)
n.965C>A
c.442C>A (p.Leu148Ile)
c.592C>A (p.Leu198Ile)
c.565C>A (p.Leu189Ile)
 gnomAD v4
7g.150958237_150958249delCA2695208637KCNH2n.1563_1575del
c.730_742del (p.Ala244SerfsTer?)
c.382_394del (p.Ala128SerfsTer?)
n.953_965del
c.430_442del (p.Ala144SerfsTer?)
c.580_592del (p.Ala194SerfsTer?)
c.553_565del (p.Ala185SerfsTer?)
7g.150958234C>ACA369862668KCNH2n.1574G>T
c.741G>T (p.Gln247His)
c.393G>T (p.Gln131His)
n.964G>T
c.441G>T (p.Gln147His)
c.591G>T (p.Gln197His)
c.564G>T (p.Gln188His)
 gnomAD v4
7g.150958234C>GCA369862669KCNH2n.1574G>C
c.741G>C (p.Gln247His)
c.393G>C (p.Gln131His)
n.964G>C
c.441G>C (p.Gln147His)
c.591G>C (p.Gln197His)
c.564G>C (p.Gln188His)
7g.150958234C>TCA072053KCNH2n.1574G>A
c.741G>A (p.Gln247=)
c.393G>A (p.Gln131=)
n.964G>A
c.441G>A (p.Gln147=)
c.591G>A (p.Gln197=)
c.564G>A (p.Gln188=)
 gnomAD v4
7g.150958235T>ACA369862672KCNH2n.1573A>T
c.740A>T (p.Gln247Leu)
c.392A>T (p.Gln131Leu)
n.963A>T
c.440A>T (p.Gln147Leu)
c.590A>T (p.Gln197Leu)
c.563A>T (p.Gln188Leu)
7g.150958235T>CCA369862671KCNH2n.1573A>G
c.740A>G (p.Gln247Arg)
c.392A>G (p.Gln131Arg)
n.963A>G
c.440A>G (p.Gln147Arg)
c.590A>G (p.Gln197Arg)
c.563A>G (p.Gln188Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958235T>GCA369862670KCNH2n.1573A>C
c.740A>C (p.Gln247Pro)
c.392A>C (p.Gln131Pro)
n.963A>C
c.440A>C (p.Gln147Pro)
c.590A>C (p.Gln197Pro)
c.563A>C (p.Gln188Pro)
7g.150958235T=CA1752418152KCNH2n.1573A=
c.740A= (p.Gln247=)
c.392A= (p.Gln131=)
n.963A=
c.440A= (p.Gln147=)
c.590A= (p.Gln197=)
c.563A= (p.Gln188=)
7g.150958236G>ACA369862673KCNH2n.1572C>T
c.739C>T (p.Gln247Ter)
c.391C>T (p.Gln131Ter)
n.962C>T
c.439C>T (p.Gln147Ter)
c.589C>T (p.Gln197Ter)
c.562C>T (p.Gln188Ter)
 gnomAD v4
7g.150958236G>CCA369862674KCNH2n.1572C>G
c.739C>G (p.Gln247Glu)
c.391C>G (p.Gln131Glu)
n.962C>G
c.439C>G (p.Gln147Glu)
c.589C>G (p.Gln197Glu)
c.562C>G (p.Gln188Glu)
7g.150958236G>TCA369862675KCNH2n.1572C>A
c.739C>A (p.Gln247Lys)
c.391C>A (p.Gln131Lys)
n.962C>A
c.439C>A (p.Gln147Lys)
c.589C>A (p.Gln197Lys)
c.562C>A (p.Gln188Lys)
 gnomAD v4
7g.150958237G>ACA458872126KCNH2n.1571C>T
c.738C>T (p.Gly246=)
c.390C>T (p.Gly130=)
n.961C>T
c.438C>T (p.Gly146=)
c.588C>T (p.Gly196=)
c.561C>T (p.Gly187=)
 ClinVar gnomAD v4
7g.150958237G>CCA458872128KCNH2n.1571C>G
c.738C>G (p.Gly246=)
c.390C>G (p.Gly130=)
n.961C>G
c.438C>G (p.Gly146=)
c.588C>G (p.Gly196=)
c.561C>G (p.Gly187=)
 gnomAD v4
7g.150958237G=CA1752418154KCNH2n.1571C=
c.738C= (p.Gly246=)
c.390C= (p.Gly130=)
n.961C=
c.438C= (p.Gly146=)
c.588C= (p.Gly196=)
c.561C= (p.Gly187=)
7g.150958237G>TCA458872130KCNH2n.1571C>A
c.738C>A (p.Gly246=)
c.390C>A (p.Gly130=)
n.961C>A
c.438C>A (p.Gly146=)
c.588C>A (p.Gly196=)
c.561C>A (p.Gly187=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958238C>ACA369862676KCNH2n.1570G>T
c.737G>T (p.Gly246Val)
c.389G>T (p.Gly130Val)
n.960G>T
c.437G>T (p.Gly146Val)
c.587G>T (p.Gly196Val)
c.560G>T (p.Gly187Val)
 gnomAD v4
7g.150958238C>GCA369862677KCNH2n.1570G>C
c.737G>C (p.Gly246Ala)
c.389G>C (p.Gly130Ala)
n.960G>C
c.437G>C (p.Gly146Ala)
c.587G>C (p.Gly196Ala)
c.560G>C (p.Gly187Ala)
 gnomAD v4
7g.150958238C>TCA369862678KCNH2n.1570G>A
c.737G>A (p.Gly246Asp)
c.389G>A (p.Gly130Asp)
n.960G>A
c.437G>A (p.Gly146Asp)
c.587G>A (p.Gly196Asp)
c.560G>A (p.Gly187Asp)
 gnomAD v4
7g.150958239C>ACA16605738KCNH2n.1569G>T
c.736G>T (p.Gly246Cys)
c.388G>T (p.Gly130Cys)
n.959G>T
c.436G>T (p.Gly146Cys)
c.586G>T (p.Gly196Cys)
c.559G>T (p.Gly187Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958239C=CA1752418155KCNH2n.1569G=
c.736G= (p.Gly246=)
c.388G= (p.Gly130=)
n.959G=
c.436G= (p.Gly146=)
c.586G= (p.Gly196=)
c.559G= (p.Gly187=)
7g.150958239C>GCA369862679KCNH2n.1569G>C
c.736G>C (p.Gly246Arg)
c.388G>C (p.Gly130Arg)
n.959G>C
c.436G>C (p.Gly146Arg)
c.586G>C (p.Gly196Arg)
c.559G>C (p.Gly187Arg)
 gnomAD v4
7g.150958239C>TCA369862680KCNH2n.1569G>A
c.736G>A (p.Gly246Ser)
c.388G>A (p.Gly130Ser)
n.959G>A
c.436G>A (p.Gly146Ser)
c.586G>A (p.Gly196Ser)
c.559G>A (p.Gly187Ser)
 dbSNP gnomAD v4
7g.150958240G>ACA072040KCNH2n.1568C>T
c.735C>T (p.Pro245=)
c.387C>T (p.Pro129=)
n.958C>T
c.435C>T (p.Pro145=)
c.585C>T (p.Pro195=)
c.558C>T (p.Pro186=)
 ClinVar dbSNP gnomAD v4
7g.150958240G>CCA458872137KCNH2n.1568C>G
c.735C>G (p.Pro245=)
c.387C>G (p.Pro129=)
n.958C>G
c.435C>G (p.Pro145=)
c.585C>G (p.Pro195=)
c.558C>G (p.Pro186=)
 gnomAD v4
7g.150958240G=CA1752418159KCNH2n.1568C=
c.735C= (p.Pro245=)
c.387C= (p.Pro129=)
n.958C=
c.435C= (p.Pro145=)
c.585C= (p.Pro195=)
c.558C= (p.Pro186=)
7g.150958240G>TCA458872138KCNH2n.1568C>A
c.735C>A (p.Pro245=)
c.387C>A (p.Pro129=)
n.958C>A
c.435C>A (p.Pro145=)
c.585C>A (p.Pro195=)
c.558C>A (p.Pro186=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958242dupCA2580077691KCNH2n.1568dup
c.735dup (p.Gly246ArgfsTer?)
c.387dup (p.Gly130ArgfsTer?)
n.958dup
c.435dup (p.Gly146ArgfsTer?)
c.585dup (p.Gly196ArgfsTer?)
c.558dup (p.Gly187ArgfsTer?)
 ClinVar
7g.150958241_150958242dupCA2695208638KCNH2n.1567_1568dup
c.734_735dup (p.Gly246ProfsTer?)
c.386_387dup (p.Gly130ProfsTer?)
n.957_958dup
c.434_435dup (p.Gly146ProfsTer?)
c.584_585dup (p.Gly196ProfsTer?)
c.557_558dup (p.Gly187ProfsTer?)
7g.150958242delCA2685607855KCNH2n.1568del
c.735del (p.Gly246AlafsTer?)
c.387del (p.Gly130AlafsTer?)
n.958del
c.435del (p.Gly146AlafsTer?)
c.585del (p.Gly196AlafsTer?)
c.558del (p.Gly187AlafsTer?)
 gnomAD v4
7g.150958241G>ACA369862681KCNH2n.1567C>T
c.734C>T (p.Pro245Leu)
c.386C>T (p.Pro129Leu)
n.957C>T
c.434C>T (p.Pro145Leu)
c.584C>T (p.Pro195Leu)
c.557C>T (p.Pro186Leu)
 gnomAD v4
7g.150958241G>CCA369862682KCNH2n.1567C>G
c.734C>G (p.Pro245Arg)
c.386C>G (p.Pro129Arg)
n.957C>G
c.434C>G (p.Pro145Arg)
c.584C>G (p.Pro195Arg)
c.557C>G (p.Pro186Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958241G=CA1752418161KCNH2n.1567C=
c.734C= (p.Pro245=)
c.386C= (p.Pro129=)
n.957C=
c.434C= (p.Pro145=)
c.584C= (p.Pro195=)
c.557C= (p.Pro186=)
7g.150958241G>TCA369862683KCNH2n.1567C>A
c.734C>A (p.Pro245His)
c.386C>A (p.Pro129His)
n.957C>A
c.434C>A (p.Pro145His)
c.584C>A (p.Pro195His)
c.557C>A (p.Pro186His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958242G>ACA369862686KCNH2n.1566C>T
c.733C>T (p.Pro245Ser)
c.385C>T (p.Pro129Ser)
n.956C>T
c.433C>T (p.Pro145Ser)
c.583C>T (p.Pro195Ser)
c.556C>T (p.Pro186Ser)
 gnomAD v4
7g.150958242G>CCA369862685KCNH2n.1566C>G
c.733C>G (p.Pro245Ala)
c.385C>G (p.Pro129Ala)
n.956C>G
c.433C>G (p.Pro145Ala)
c.583C>G (p.Pro195Ala)
c.556C>G (p.Pro186Ala)
7g.150958242G>TCA369862684KCNH2n.1566C>A
c.733C>A (p.Pro245Thr)
c.385C>A (p.Pro129Thr)
n.956C>A
c.433C>A (p.Pro145Thr)
c.583C>A (p.Pro195Thr)
c.556C>A (p.Pro186Thr)
 gnomAD v4
7g.150958242_150958243delinsGCCA1752418163KCNH2n.1565_1566delinsGC
c.732_733delinsGC (p.Ala244=)
c.384_385delinsGC (p.Ala128=)
n.955_956delinsGC
c.432_433delinsGC (p.Ala144=)
c.582_583delinsGC (p.Ala194=)
c.555_556delinsGC (p.Ala185=)
7g.150958243delCA008725KCNH2n.1565del
c.732del (p.Gly246AlafsTer?)
c.384del (p.Gly130AlafsTer?)
n.955del
c.432del (p.Gly146AlafsTer?)
c.582del (p.Gly196AlafsTer?)
c.555del (p.Gly187AlafsTer?)
 ClinVar dbSNP
7g.150958243C>ACA458872144KCNH2n.1565G>T
c.732G>T (p.Ala244=)
c.384G>T (p.Ala128=)
n.955G>T
c.432G>T (p.Ala144=)
c.582G>T (p.Ala194=)
c.555G>T (p.Ala185=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958243C=CA1752418166KCNH2n.1565G=
c.732G= (p.Ala244=)
c.384G= (p.Ala128=)
n.955G=
c.432G= (p.Ala144=)
c.582G= (p.Ala194=)
c.555G= (p.Ala185=)
7g.150958243C>GCA458872147KCNH2n.1565G>C
c.732G>C (p.Ala244=)
c.384G>C (p.Ala128=)
n.955G>C
c.432G>C (p.Ala144=)
c.582G>C (p.Ala194=)
c.555G>C (p.Ala185=)
 gnomAD v4
7g.150958243C>TCA458872148KCNH2n.1565G>A
c.732G>A (p.Ala244=)
c.384G>A (p.Ala128=)
n.955G>A
c.432G>A (p.Ala144=)
c.582G>A (p.Ala194=)
c.555G>A (p.Ala185=)
 dbSNP gnomAD v3 gnomAD v4
7g.150958244G>ACA16612195KCNH2n.1564C>T
c.731C>T (p.Ala244Val)
c.383C>T (p.Ala128Val)
n.954C>T
c.431C>T (p.Ala144Val)
c.581C>T (p.Ala194Val)
c.554C>T (p.Ala185Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958244G>CCA040295KCNH2n.1564C>G
c.731C>G (p.Ala244Gly)
c.383C>G (p.Ala128Gly)
n.954C>G
c.431C>G (p.Ala144Gly)
c.581C>G (p.Ala194Gly)
c.554C>G (p.Ala185Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958244G=CA1752418173KCNH2n.1564C=
c.731C= (p.Ala244=)
c.383C= (p.Ala128=)
n.954C=
c.431C= (p.Ala144=)
c.581C= (p.Ala194=)
c.554C= (p.Ala185=)
7g.150958244G>TCA369862687KCNH2n.1564C>A
c.731C>A (p.Ala244Glu)
c.383C>A (p.Ala128Glu)
n.954C>A
c.431C>A (p.Ala144Glu)
c.581C>A (p.Ala194Glu)
c.554C>A (p.Ala185Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958245C>ACA369862688KCNH2n.1563G>T
c.730G>T (p.Ala244Ser)
c.382G>T (p.Ala128Ser)
n.953G>T
c.430G>T (p.Ala144Ser)
c.580G>T (p.Ala194Ser)
c.553G>T (p.Ala185Ser)
 gnomAD v4
7g.150958245C=CA1752418181KCNH2n.1563G=
c.730G= (p.Ala244=)
c.382G= (p.Ala128=)
n.953G=
c.430G= (p.Ala144=)
c.580G= (p.Ala194=)
c.553G= (p.Ala185=)
7g.150958245C>GCA369862689KCNH2n.1563G>C
c.730G>C (p.Ala244Pro)
c.382G>C (p.Ala128Pro)
n.953G>C
c.430G>C (p.Ala144Pro)
c.580G>C (p.Ala194Pro)
c.553G>C (p.Ala185Pro)
7g.150958245C>TCA369862690KCNH2n.1563G>A
c.730G>A (p.Ala244Thr)
c.382G>A (p.Ala128Thr)
n.953G>A
c.430G>A (p.Ala144Thr)
c.580G>A (p.Ala194Thr)
c.553G>A (p.Ala185Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G>ACA336005KCNH2n.1562C>T
c.729C>T (p.Ser243=)
c.381C>T (p.Ser127=)
n.952C>T
c.429C>T (p.Ser143=)
c.579C>T (p.Ser193=)
c.552C>T (p.Ser184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G>CCA369862691KCNH2n.1562C>G
c.729C>G (p.Ser243Arg)
c.381C>G (p.Ser127Arg)
n.952C>G
c.429C>G (p.Ser143Arg)
c.579C>G (p.Ser193Arg)
c.552C>G (p.Ser184Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G=CA1752418185KCNH2n.1562C=
c.729C= (p.Ser243=)
c.381C= (p.Ser127=)
n.952C=
c.429C= (p.Ser143=)
c.579C= (p.Ser193=)
c.552C= (p.Ser184=)
7g.150958246G>TCA369862692KCNH2n.1562C>A
c.729C>A (p.Ser243Arg)
c.381C>A (p.Ser127Arg)
n.952C>A
c.429C>A (p.Ser143Arg)
c.579C>A (p.Ser193Arg)
c.552C>A (p.Ser184Arg)
 ClinVar gnomAD v4
7g.150958247C>ACA369862693KCNH2n.1561G>T
c.728G>T (p.Ser243Ile)
c.380G>T (p.Ser127Ile)
n.951G>T
c.428G>T (p.Ser143Ile)
c.578G>T (p.Ser193Ile)
c.551G>T (p.Ser184Ile)
 gnomAD v4
7g.150958247C=CA1752418190KCNH2n.1561G=
c.728G= (p.Ser243=)
c.380G= (p.Ser127=)
n.951G=
c.428G= (p.Ser143=)
c.578G= (p.Ser193=)
c.551G= (p.Ser184=)
7g.150958247C>GCA369862694KCNH2n.1561G>C
c.728G>C (p.Ser243Thr)
c.380G>C (p.Ser127Thr)
n.951G>C
c.428G>C (p.Ser143Thr)
c.578G>C (p.Ser193Thr)
c.551G>C (p.Ser184Thr)
7g.150958247C>TCA369862695KCNH2n.1561G>A
c.728G>A (p.Ser243Asn)
c.380G>A (p.Ser127Asn)
n.951G>A
c.428G>A (p.Ser143Asn)
c.578G>A (p.Ser193Asn)
c.551G>A (p.Ser184Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.150958248T>ACA369862698KCNH2n.1560A>T
c.727A>T (p.Ser243Cys)
c.379A>T (p.Ser127Cys)
n.950A>T
c.427A>T (p.Ser143Cys)
c.577A>T (p.Ser193Cys)
c.550A>T (p.Ser184Cys)
7g.150958248T>CCA369862696KCNH2n.1560A>G
c.727A>G (p.Ser243Gly)
c.379A>G (p.Ser127Gly)
n.950A>G
c.427A>G (p.Ser143Gly)
c.577A>G (p.Ser193Gly)
c.550A>G (p.Ser184Gly)
 gnomAD v4
7g.150958248T>GCA369862697KCNH2n.1560A>C
c.727A>C (p.Ser243Arg)
c.379A>C (p.Ser127Arg)
n.950A>C
c.427A>C (p.Ser143Arg)
c.577A>C (p.Ser193Arg)
c.550A>C (p.Ser184Arg)
7g.150958249G>ACA458872167KCNH2n.1559C>T
c.726C>T (p.Arg242=)
c.378C>T (p.Arg126=)
n.949C>T
c.426C>T (p.Arg142=)
c.576C>T (p.Arg192=)
c.549C>T (p.Arg183=)
 ClinVar gnomAD v4
7g.150958249G>CCA458872166KCNH2n.1559C>G
c.726C>G (p.Arg242=)
c.378C>G (p.Arg126=)
n.949C>G
c.426C>G (p.Arg142=)
c.576C>G (p.Arg192=)
c.549C>G (p.Arg183=)
7g.150958249G>TCA458872165KCNH2n.1559C>A
c.726C>A (p.Arg242=)
c.378C>A (p.Arg126=)
n.949C>A
c.426C>A (p.Arg142=)
c.576C>A (p.Arg192=)
c.549C>A (p.Arg183=)
 gnomAD v4
7g.150958249_150958250delinsGCCA1752418195KCNH2n.1558_1559delinsGC
c.725_726delinsGC (p.Arg242=)
c.377_378delinsGC (p.Arg126=)
n.948_949delinsGC
c.425_426delinsGC (p.Arg142=)
c.575_576delinsGC (p.Arg192=)
c.548_549delinsGC (p.Arg183=)
7g.150958249_150958250delinsTTCA658656014KCNH2n.1558_1559delinsAA
c.725_726delinsAA (p.Arg242Gln)
c.377_378delinsAA (p.Arg126Gln)
n.948_949delinsAA
c.425_426delinsAA (p.Arg142Gln)
c.575_576delinsAA (p.Arg192Gln)
c.548_549delinsAA (p.Arg183Gln)
 ClinVar dbSNP
7g.150958250delCA2685607920KCNH2n.1558del
c.725del (p.Arg242ProfsTer?)
c.377del (p.Arg126ProfsTer?)
n.948del
c.425del (p.Arg142ProfsTer?)
c.575del (p.Arg192ProfsTer?)
c.548del (p.Arg183ProfsTer?)
 gnomAD v4
7g.150958250C>ACA369862699KCNH2n.1558G>T
c.725G>T (p.Arg242Leu)
c.377G>T (p.Arg126Leu)
n.948G>T
c.425G>T (p.Arg142Leu)
c.575G>T (p.Arg192Leu)
c.548G>T (p.Arg183Leu)
 gnomAD v4
7g.150958250C>GCA369862700KCNH2n.1558G>C
c.725G>C (p.Arg242Pro)
c.377G>C (p.Arg126Pro)
n.948G>C
c.425G>C (p.Arg142Pro)
c.575G>C (p.Arg192Pro)
c.548G>C (p.Arg183Pro)
7g.150958250C>TCA369862702KCNH2n.1558G>A
c.725G>A (p.Arg242His)
c.377G>A (p.Arg126His)
n.948G>A
c.425G>A (p.Arg142His)
c.575G>A (p.Arg192His)
c.548G>A (p.Arg183His)
 gnomAD v4
7g.150958251G>ACA369862704KCNH2n.1557C>T
c.724C>T (p.Arg242Cys)
c.376C>T (p.Arg126Cys)
n.947C>T
c.424C>T (p.Arg142Cys)
c.574C>T (p.Arg192Cys)
c.547C>T (p.Arg183Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958251G>CCA008718KCNH2n.1557C>G
c.724C>G (p.Arg242Gly)
c.376C>G (p.Arg126Gly)
n.947C>G
c.424C>G (p.Arg142Gly)
c.574C>G (p.Arg192Gly)
c.547C>G (p.Arg183Gly)
 ClinVar dbSNP gnomAD v4
7g.150958251G=CA1752418199KCNH2n.1557C=
c.724C= (p.Arg242=)
c.376C= (p.Arg126=)
n.947C=
c.424C= (p.Arg142=)
c.574C= (p.Arg192=)
c.547C= (p.Arg183=)
7g.150958251G>TCA369862707KCNH2n.1557C>A
c.724C>A (p.Arg242Ser)
c.376C>A (p.Arg126Ser)
n.947C>A
c.424C>A (p.Arg142Ser)
c.574C>A (p.Arg192Ser)
c.547C>A (p.Arg183Ser)
 dbSNP gnomAD v4
7g.150958254dupCA658761341KCNH2n.1557dup
c.724dup (p.Arg242ProfsTer?)
c.376dup (p.Arg126ProfsTer?)
n.947dup
c.424dup (p.Arg142ProfsTer?)
c.574dup (p.Arg192ProfsTer?)
c.547dup (p.Arg183ProfsTer?)
7g.150958254delCA2685607926KCNH2n.1557del
c.724del (p.Arg242AlafsTer?)
c.376del (p.Arg126AlafsTer?)
n.947del
c.424del (p.Arg142AlafsTer?)
c.574del (p.Arg192AlafsTer?)
c.547del (p.Arg183AlafsTer?)
 gnomAD v4
7g.150958252G>ACA458872171KCNH2n.1556C>T
c.723C>T (p.Pro241=)
c.375C>T (p.Pro125=)
n.946C>T
c.423C>T (p.Pro141=)
c.573C>T (p.Pro191=)
c.546C>T (p.Pro182=)
 ClinVar gnomAD v4
7g.150958252G>CCA458872173KCNH2n.1556C>G
c.723C>G (p.Pro241=)
c.375C>G (p.Pro125=)
n.946C>G
c.423C>G (p.Pro141=)
c.573C>G (p.Pro191=)
c.546C>G (p.Pro182=)
7g.150958252G>TCA458872172KCNH2n.1556C>A
c.723C>A (p.Pro241=)
c.375C>A (p.Pro125=)
n.946C>A
c.423C>A (p.Pro141=)
c.573C>A (p.Pro191=)
c.546C>A (p.Pro182=)
 gnomAD v4
7g.150958253G>ACA008711KCNH2n.1555C>T
c.722C>T (p.Pro241Leu)
c.374C>T (p.Pro125Leu)
n.945C>T
c.422C>T (p.Pro141Leu)
c.572C>T (p.Pro191Leu)
c.545C>T (p.Pro182Leu)
 ClinVar dbSNP gnomAD v4
7g.150958253G>CCA369862710KCNH2n.1555C>G
c.722C>G (p.Pro241Arg)
c.374C>G (p.Pro125Arg)
n.945C>G
c.422C>G (p.Pro141Arg)
c.572C>G (p.Pro191Arg)
c.545C>G (p.Pro182Arg)
 dbSNP gnomAD v4
7g.150958253G=CA1752418209KCNH2n.1555C=
c.722C= (p.Pro241=)
c.374C= (p.Pro125=)
n.945C=
c.422C= (p.Pro141=)
c.572C= (p.Pro191=)
c.545C= (p.Pro182=)
7g.150958253G>TCA369862712KCNH2n.1555C>A
c.722C>A (p.Pro241His)
c.374C>A (p.Pro125His)
n.945C>A
c.422C>A (p.Pro141His)
c.572C>A (p.Pro191His)
c.545C>A (p.Pro182His)
 gnomAD v4
7g.150958255_150958265delCA2685607947KCNH2n.1545_1555del
c.712_722del (p.Gly238ProfsTer?)
c.364_374del (p.Gly122ProfsTer?)
n.935_945del
c.412_422del (p.Gly138ProfsTer?)
c.562_572del (p.Gly188ProfsTer?)
c.535_545del (p.Gly179ProfsTer?)
 gnomAD v4
7g.150958254G>ACA040287KCNH2n.1554C>T
c.721C>T (p.Pro241Ser)
c.373C>T (p.Pro125Ser)
n.944C>T
c.421C>T (p.Pro141Ser)
c.571C>T (p.Pro191Ser)
c.544C>T (p.Pro182Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958254G>CCA369862714KCNH2n.1554C>G
c.721C>G (p.Pro241Ala)
c.373C>G (p.Pro125Ala)
n.944C>G
c.421C>G (p.Pro141Ala)
c.571C>G (p.Pro191Ala)
c.544C>G (p.Pro182Ala)
7g.150958254G=CA1752418212KCNH2n.1554C=
c.721C= (p.Pro241=)
c.373C= (p.Pro125=)
n.944C=
c.421C= (p.Pro141=)
c.571C= (p.Pro191=)
c.544C= (p.Pro182=)
7g.150958254G>TCA369862716KCNH2n.1554C>A
c.721C>A (p.Pro241Thr)
c.373C>A (p.Pro125Thr)
n.944C>A
c.421C>A (p.Pro141Thr)
c.571C>A (p.Pro191Thr)
c.544C>A (p.Pro182Thr)
 gnomAD v4
7g.150958255delCA2685607962KCNH2n.1553del
c.720del (p.Arg242AlafsTer?)
c.372del (p.Arg126AlafsTer?)
n.943del
c.420del (p.Arg142AlafsTer?)
c.570del (p.Arg192AlafsTer?)
c.543del (p.Arg183AlafsTer?)
 gnomAD v4
7g.150958255C>ACA458872180KCNH2n.1553G>T
c.720G>T (p.Pro240=)
c.372G>T (p.Pro124=)
n.943G>T
c.420G>T (p.Pro140=)
c.570G>T (p.Pro190=)
c.543G>T (p.Pro181=)
 dbSNP gnomAD v4
7g.150958255C=CA1752418216KCNH2n.1553G=
c.720G= (p.Pro240=)
c.372G= (p.Pro124=)
n.943G=
c.420G= (p.Pro140=)
c.570G= (p.Pro190=)
c.543G= (p.Pro181=)
7g.150958255C>GCA458872181KCNH2n.1553G>C
c.720G>C (p.Pro240=)
c.372G>C (p.Pro124=)
n.943G>C
c.420G>C (p.Pro140=)
c.570G>C (p.Pro190=)
c.543G>C (p.Pro181=)
 ClinVar dbSNP
7g.150958255C>TCA16612197KCNH2n.1553G>A
c.720G>A (p.Pro240=)
c.372G>A (p.Pro124=)
n.943G>A
c.420G>A (p.Pro140=)
c.570G>A (p.Pro190=)
c.543G>A (p.Pro181=)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched