Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150946748_150946906delCA2685600359KCNH2n.4141_4163+136del
c.3308_3330+136del
c.2288_2310+136del
c.3008_3030+136del
c.3158_3180+136del
c.3131_3153+136del
gnomAD v4
7g.150946814_150947018delCA2697557661KCNH2n.4027_4163+68del
c.3194_3330+68del
c.2174_2310+68del
c.2894_3030+68del
c.3044_3180+68del
c.3017_3153+68del
ClinVar
7g.150946857G>ACA2579062508KCNH2n.4163+20C>T
c.3330+20C>T (n.3330+20C>T)
c.2310+20C>T (n.2310+20C>T)
c.3030+20C>T (n.3030+20C>T)
c.3180+20C>T (n.3180+20C>T)
c.3153+20C>T (n.3153+20C>T)
gnomAD v4
7g.150946857G=CA1752427267KCNH2n.4163+20C=
c.3330+20C= (n.3330+20C=)
c.2310+20C= (n.2310+20C=)
c.3030+20C= (n.3030+20C=)
c.3180+20C= (n.3180+20C=)
c.3153+20C= (n.3153+20C=)
7g.150946859dupCA1108704487KCNH2n.4163+19dup
c.3330+19dup (n.3330+19dup)
c.2310+19dup (n.2310+19dup)
c.3030+19dup (n.3030+19dup)
c.3180+19dup (n.3180+19dup)
c.3153+19dup (n.3153+19dup)
dbSNP gnomAD v3 gnomAD v4
7g.150946860G>ACA169071143KCNH2n.4163+17C>T
c.3330+17C>T (n.3330+17C>T)
c.2310+17C>T (n.2310+17C>T)
c.3030+17C>T (n.3030+17C>T)
c.3180+17C>T (n.3180+17C>T)
c.3153+17C>T (n.3153+17C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946860G=CA1752427269KCNH2n.4163+17C=
c.3330+17C= (n.3330+17C=)
c.2310+17C= (n.2310+17C=)
c.3030+17C= (n.3030+17C=)
c.3180+17C= (n.3180+17C=)
c.3153+17C= (n.3153+17C=)
7g.150946860G>TCA2685600504KCNH2n.4163+17C>A
c.3330+17C>A (n.3330+17C>A)
c.2310+17C>A (n.2310+17C>A)
c.3030+17C>A (n.3030+17C>A)
c.3180+17C>A (n.3180+17C>A)
c.3153+17C>A (n.3153+17C>A)
gnomAD v4
7g.150946861C>ACA2685600505KCNH2n.4163+16G>T
c.3330+16G>T (n.3330+16G>T)
c.2310+16G>T (n.2310+16G>T)
c.3030+16G>T (n.3030+16G>T)
c.3180+16G>T (n.3180+16G>T)
c.3153+16G>T (n.3153+16G>T)
gnomAD v4
7g.150946861C=CA1752427271KCNH2n.4163+16G=
c.3330+16G= (n.3330+16G=)
c.2310+16G= (n.2310+16G=)
c.3030+16G= (n.3030+16G=)
c.3180+16G= (n.3180+16G=)
c.3153+16G= (n.3153+16G=)
7g.150946861C>GCA038458KCNH2n.4163+16G>C
c.3330+16G>C (n.3330+16G>C)
c.2310+16G>C (n.2310+16G>C)
c.3030+16G>C (n.3030+16G>C)
c.3180+16G>C (n.3180+16G>C)
c.3153+16G>C (n.3153+16G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946861C>TCA2685600506KCNH2n.4163+16G>A
c.3330+16G>A (n.3330+16G>A)
c.2310+16G>A (n.2310+16G>A)
c.3030+16G>A (n.3030+16G>A)
c.3180+16G>A (n.3180+16G>A)
c.3153+16G>A (n.3153+16G>A)
gnomAD v4
7g.150946862A=CA1752427273KCNH2n.4163+15T=
c.3330+15T= (n.3330+15T=)
c.2310+15T= (n.2310+15T=)
c.3030+15T= (n.3030+15T=)
c.3180+15T= (n.3180+15T=)
c.3153+15T= (n.3153+15T=)
7g.150946862A>CCA579075286KCNH2n.4163+15T>G
c.3330+15T>G (n.3330+15T>G)
c.2310+15T>G (n.2310+15T>G)
c.3030+15T>G (n.3030+15T>G)
c.3180+15T>G (n.3180+15T>G)
c.3153+15T>G (n.3153+15T>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946862A>GCA2685600507KCNH2n.4163+15T>C
c.3330+15T>C (n.3330+15T>C)
c.2310+15T>C (n.2310+15T>C)
c.3030+15T>C (n.3030+15T>C)
c.3180+15T>C (n.3180+15T>C)
c.3153+15T>C (n.3153+15T>C)
gnomAD v4
7g.150946863G>ACA2685600509KCNH2n.4163+14C>T
c.3330+14C>T (n.3330+14C>T)
c.2310+14C>T (n.2310+14C>T)
c.3030+14C>T (n.3030+14C>T)
c.3180+14C>T (n.3180+14C>T)
c.3153+14C>T (n.3153+14C>T)
gnomAD v4
7g.150946863G>CCA1752427275KCNH2n.4163+14C>G
c.3330+14C>G (n.3330+14C>G)
c.2310+14C>G (n.2310+14C>G)
c.3030+14C>G (n.3030+14C>G)
c.3180+14C>G (n.3180+14C>G)
c.3153+14C>G (n.3153+14C>G)
dbSNP
7g.150946863G=CA1752427274KCNH2n.4163+14C=
c.3330+14C= (n.3330+14C=)
c.2310+14C= (n.2310+14C=)
c.3030+14C= (n.3030+14C=)
c.3180+14C= (n.3180+14C=)
c.3153+14C= (n.3153+14C=)
7g.150946864G>ACA2685600510KCNH2n.4163+13C>T
c.3330+13C>T (n.3330+13C>T)
c.2310+13C>T (n.2310+13C>T)
c.3030+13C>T (n.3030+13C>T)
c.3180+13C>T (n.3180+13C>T)
c.3153+13C>T (n.3153+13C>T)
gnomAD v4
7g.150946865G>ACA038442KCNH2n.4163+12C>T
c.3330+12C>T (n.3330+12C>T)
c.2310+12C>T (n.2310+12C>T)
c.3030+12C>T (n.3030+12C>T)
c.3180+12C>T (n.3180+12C>T)
c.3153+12C>T (n.3153+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946865G=CA1752427277KCNH2n.4163+12C=
c.3330+12C= (n.3330+12C=)
c.2310+12C= (n.2310+12C=)
c.3030+12C= (n.3030+12C=)
c.3180+12C= (n.3180+12C=)
c.3153+12C= (n.3153+12C=)
7g.150946865G>TCA2685600512KCNH2n.4163+12C>A
c.3330+12C>A (n.3330+12C>A)
c.2310+12C>A (n.2310+12C>A)
c.3030+12C>A (n.3030+12C>A)
c.3180+12C>A (n.3180+12C>A)
c.3153+12C>A (n.3153+12C>A)
gnomAD v4
7g.150946866C>ACA2685600513KCNH2n.4163+11G>T
c.3330+11G>T (n.3330+11G>T)
c.2310+11G>T (n.2310+11G>T)
c.3030+11G>T (n.3030+11G>T)
c.3180+11G>T (n.3180+11G>T)
c.3153+11G>T (n.3153+11G>T)
gnomAD v4
7g.150946866C=CA1752427282KCNH2n.4163+11G=
c.3330+11G= (n.3330+11G=)
c.2310+11G= (n.2310+11G=)
c.3030+11G= (n.3030+11G=)
c.3180+11G= (n.3180+11G=)
c.3153+11G= (n.3153+11G=)
7g.150946866C>GCA579075287KCNH2n.4163+11G>C
c.3330+11G>C (n.3330+11G>C)
c.2310+11G>C (n.2310+11G>C)
c.3030+11G>C (n.3030+11G>C)
c.3180+11G>C (n.3180+11G>C)
c.3153+11G>C (n.3153+11G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946866C>TCA1752427280KCNH2n.4163+11G>A
c.3330+11G>A (n.3330+11G>A)
c.2310+11G>A (n.2310+11G>A)
c.3030+11G>A (n.3030+11G>A)
c.3180+11G>A (n.3180+11G>A)
c.3153+11G>A (n.3153+11G>A)
dbSNP gnomAD v4
7g.150946867T>CCA2685600515KCNH2n.4163+10A>G
c.3330+10A>G (n.3330+10A>G)
c.2310+10A>G (n.2310+10A>G)
c.3030+10A>G (n.3030+10A>G)
c.3180+10A>G (n.3180+10A>G)
c.3153+10A>G (n.3153+10A>G)
ClinVar gnomAD v4
7g.150946867_150946870delCA2685600514KCNH2n.4163+7_4163+10del
c.3330+7_3330+10del (n.3330+7_3330+10del)
c.2310+7_2310+10del (n.2310+7_2310+10del)
c.3030+7_3030+10del (n.3030+7_3030+10del)
c.3180+7_3180+10del (n.3180+7_3180+10del)
c.3153+7_3153+10del (n.3153+7_3153+10del)
gnomAD v4
7g.150946868G>CCA2685600516KCNH2n.4163+9C>G
c.3330+9C>G (n.3330+9C>G)
c.2310+9C>G (n.2310+9C>G)
c.3030+9C>G (n.3030+9C>G)
c.3180+9C>G (n.3180+9C>G)
c.3153+9C>G (n.3153+9C>G)
gnomAD v4
7g.150946869G>ACA2739279283KCNH2n.4163+8C>T
c.3330+8C>T (n.3330+8C>T)
c.2310+8C>T (n.2310+8C>T)
c.3030+8C>T (n.3030+8C>T)
c.3180+8C>T (n.3180+8C>T)
c.3153+8C>T (n.3153+8C>T)
ClinVar
7g.150946870A>GCA2685600517KCNH2n.4163+7T>C
c.3330+7T>C (n.3330+7T>C)
c.2310+7T>C (n.2310+7T>C)
c.3030+7T>C (n.3030+7T>C)
c.3180+7T>C (n.3180+7T>C)
c.3153+7T>C (n.3153+7T>C)
gnomAD v4
7g.150946871G>ACA2685600518KCNH2n.4163+6C>T
c.3330+6C>T (n.3330+6C>T)
c.2310+6C>T (n.2310+6C>T)
c.3030+6C>T (n.3030+6C>T)
c.3180+6C>T (n.3180+6C>T)
c.3153+6C>T (n.3153+6C>T)
gnomAD v4
7g.150946872C>ACA2685600519KCNH2n.4163+5G>T
c.3330+5G>T (n.3330+5G>T)
c.2310+5G>T (n.2310+5G>T)
c.3030+5G>T (n.3030+5G>T)
c.3180+5G>T (n.3180+5G>T)
c.3153+5G>T (n.3153+5G>T)
gnomAD v4
7g.150946874delCA2579062509KCNH2n.4163+4del
c.3330+4del (n.3330+4del)
c.2310+4del (n.2310+4del)
c.3030+4del (n.3030+4del)
c.3180+4del (n.3180+4del)
c.3153+4del (n.3153+4del)
7g.150946875A>CCA369851857KCNH2n.4163+2T>G
c.3330+2T>G (n.3330+2T>G)
c.2310+2T>G (n.2310+2T>G)
c.3030+2T>G (n.3030+2T>G)
c.3180+2T>G (n.3180+2T>G)
c.3153+2T>G (n.3153+2T>G)
7g.150946875A>GCA369851858KCNH2n.4163+2T>C
c.3330+2T>C (n.3330+2T>C)
c.2310+2T>C (n.2310+2T>C)
c.3030+2T>C (n.3030+2T>C)
c.3180+2T>C (n.3180+2T>C)
c.3153+2T>C (n.3153+2T>C)
7g.150946875A>TCA369851860KCNH2n.4163+2T>A
c.3330+2T>A (n.3330+2T>A)
c.2310+2T>A (n.2310+2T>A)
c.3030+2T>A (n.3030+2T>A)
c.3180+2T>A (n.3180+2T>A)
c.3153+2T>A (n.3153+2T>A)
7g.150946876C>ACA369851866KCNH2n.4163+1G>T
c.3330+1G>T (n.3330+1G>T)
c.2310+1G>T (n.2310+1G>T)
c.3030+1G>T (n.3030+1G>T)
c.3180+1G>T (n.3180+1G>T)
c.3153+1G>T (n.3153+1G>T)
7g.150946876C=CA1752427287KCNH2n.4163+1G=
c.3330+1G= (n.3330+1G=)
c.2310+1G= (n.2310+1G=)
c.3030+1G= (n.3030+1G=)
c.3180+1G= (n.3180+1G=)
c.3153+1G= (n.3153+1G=)
7g.150946876C>GCA369851863KCNH2n.4163+1G>C
c.3330+1G>C (n.3330+1G>C)
c.2310+1G>C (n.2310+1G>C)
c.3030+1G>C (n.3030+1G>C)
c.3180+1G>C (n.3180+1G>C)
c.3153+1G>C (n.3153+1G>C)
7g.150946876C>TCA369851864KCNH2n.4163+1G>A
c.3330+1G>A (n.3330+1G>A)
c.2310+1G>A (n.2310+1G>A)
c.3030+1G>A (n.3030+1G>A)
c.3180+1G>A (n.3180+1G>A)
c.3153+1G>A (n.3153+1G>A)
ClinVar dbSNP gnomAD v2
7g.150946877C>ACA369851867KCNH2n.4163G>T
c.3330G>T (p.Gln1110His)
c.2310G>T (p.Gln770His)
c.3030G>T (p.Gln1010His)
c.3180G>T (p.Gln1060His)
c.3153G>T (p.Gln1051His)
gnomAD v4
7g.150946877C>GCA369851868KCNH2n.4163G>C
c.3330G>C (p.Gln1110His)
c.2310G>C (p.Gln770His)
c.3030G>C (p.Gln1010His)
c.3180G>C (p.Gln1060His)
c.3153G>C (p.Gln1051His)
gnomAD v4
7g.150946877C>TCA458644621KCNH2n.4163G>A
c.3330G>A (p.Gln1110=)
c.2310G>A (p.Gln770=)
c.3030G>A (p.Gln1010=)
c.3180G>A (p.Gln1060=)
c.3153G>A (p.Gln1051=)
7g.150946878T>ACA369851869KCNH2n.4162A>T
c.3329A>T (p.Gln1110Leu)
c.2309A>T (p.Gln770Leu)
c.3029A>T (p.Gln1010Leu)
c.3179A>T (p.Gln1060Leu)
c.3152A>T (p.Gln1051Leu)
7g.150946878T>CCA369851871KCNH2n.4162A>G
c.3329A>G (p.Gln1110Arg)
c.2309A>G (p.Gln770Arg)
c.3029A>G (p.Gln1010Arg)
c.3179A>G (p.Gln1060Arg)
c.3152A>G (p.Gln1051Arg)
gnomAD v4
7g.150946878T>GCA038431KCNH2n.4162A>C
c.3329A>C (p.Gln1110Pro)
c.2309A>C (p.Gln770Pro)
c.3029A>C (p.Gln1010Pro)
c.3179A>C (p.Gln1060Pro)
c.3152A>C (p.Gln1051Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946878T=CA1752427290KCNH2n.4162A=
c.3329A= (p.Gln1110=)
c.2309A= (p.Gln770=)
c.3029A= (p.Gln1010=)
c.3179A= (p.Gln1060=)
c.3152A= (p.Gln1051=)
7g.150946879G>ACA369851872KCNH2n.4161C>T
c.3328C>T (p.Gln1110Ter)
c.2308C>T (p.Gln770Ter)
c.3028C>T (p.Gln1010Ter)
c.3178C>T (p.Gln1060Ter)
c.3151C>T (p.Gln1051Ter)
7g.150946879G>CCA369851874KCNH2n.4161C>G
c.3328C>G (p.Gln1110Glu)
c.2308C>G (p.Gln770Glu)
c.3028C>G (p.Gln1010Glu)
c.3178C>G (p.Gln1060Glu)
c.3151C>G (p.Gln1051Glu)
COSMIC COSMIC
7g.150946879G>TCA369851875KCNH2n.4161C>A
c.3328C>A (p.Gln1110Lys)
c.2308C>A (p.Gln770Lys)
c.3028C>A (p.Gln1010Lys)
c.3178C>A (p.Gln1060Lys)
c.3151C>A (p.Gln1051Lys)
gnomAD v4
7g.150946880A>CCA458644625KCNH2n.4160T>G
c.3327T>G (p.Ser1109=)
c.2307T>G (p.Ser769=)
c.3027T>G (p.Ser1009=)
c.3177T>G (p.Ser1059=)
c.3150T>G (p.Ser1050=)
7g.150946880A>GCA458644626KCNH2n.4160T>C
c.3327T>C (p.Ser1109=)
c.2307T>C (p.Ser769=)
c.3027T>C (p.Ser1009=)
c.3177T>C (p.Ser1059=)
c.3150T>C (p.Ser1050=)
7g.150946880A>TCA458644627KCNH2n.4160T>A
c.3327T>A (p.Ser1109=)
c.2307T>A (p.Ser769=)
c.3027T>A (p.Ser1009=)
c.3177T>A (p.Ser1059=)
c.3150T>A (p.Ser1050=)
7g.150946881G>ACA369851877KCNH2n.4159C>T
c.3326C>T (p.Ser1109Phe)
c.2306C>T (p.Ser769Phe)
c.3026C>T (p.Ser1009Phe)
c.3176C>T (p.Ser1059Phe)
c.3149C>T (p.Ser1050Phe)
7g.150946881G>CCA369851879KCNH2n.4159C>G
c.3326C>G (p.Ser1109Cys)
c.2306C>G (p.Ser769Cys)
c.3026C>G (p.Ser1009Cys)
c.3176C>G (p.Ser1059Cys)
c.3149C>G (p.Ser1050Cys)
COSMIC
7g.150946881G>TCA369851881KCNH2n.4159C>A
c.3326C>A (p.Ser1109Tyr)
c.2306C>A (p.Ser769Tyr)
c.3026C>A (p.Ser1009Tyr)
c.3176C>A (p.Ser1059Tyr)
c.3149C>A (p.Ser1050Tyr)
7g.150946882A>CCA369851884KCNH2n.4158T>G
c.3325T>G (p.Ser1109Ala)
c.2305T>G (p.Ser769Ala)
c.3025T>G (p.Ser1009Ala)
c.3175T>G (p.Ser1059Ala)
c.3148T>G (p.Ser1050Ala)
7g.150946882A>GCA369851886KCNH2n.4158T>C
c.3325T>C (p.Ser1109Pro)
c.2305T>C (p.Ser769Pro)
c.3025T>C (p.Ser1009Pro)
c.3175T>C (p.Ser1059Pro)
c.3148T>C (p.Ser1050Pro)
7g.150946882A>TCA369851882KCNH2n.4158T>A
c.3325T>A (p.Ser1109Thr)
c.2305T>A (p.Ser769Thr)
c.3025T>A (p.Ser1009Thr)
c.3175T>A (p.Ser1059Thr)
c.3148T>A (p.Ser1050Thr)
7g.150946883A=CA1752427293KCNH2n.4157T=
c.3324T= (p.Leu1108=)
c.2304T= (p.Leu768=)
c.3024T= (p.Leu1008=)
c.3174T= (p.Leu1058=)
c.3147T= (p.Leu1049=)
7g.150946883A>CCA038412KCNH2n.4157T>G
c.3324T>G (p.Leu1108=)
c.2304T>G (p.Leu768=)
c.3024T>G (p.Leu1008=)
c.3174T>G (p.Leu1058=)
c.3147T>G (p.Leu1049=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946883A>GCA458644629KCNH2n.4157T>C
c.3324T>C (p.Leu1108=)
c.2304T>C (p.Leu768=)
c.3024T>C (p.Leu1008=)
c.3174T>C (p.Leu1058=)
c.3147T>C (p.Leu1049=)
7g.150946883A>TCA458644631KCNH2n.4157T>A
c.3324T>A (p.Leu1108=)
c.2304T>A (p.Leu768=)
c.3024T>A (p.Leu1008=)
c.3174T>A (p.Leu1058=)
c.3147T>A (p.Leu1049=)
7g.150946884A>CCA369851889KCNH2n.4156T>G
c.3323T>G (p.Leu1108Arg)
c.2303T>G (p.Leu768Arg)
c.3023T>G (p.Leu1008Arg)
c.3173T>G (p.Leu1058Arg)
c.3146T>G (p.Leu1049Arg)
7g.150946884A>GCA369851891KCNH2n.4156T>C
c.3323T>C (p.Leu1108Pro)
c.2303T>C (p.Leu768Pro)
c.3023T>C (p.Leu1008Pro)
c.3173T>C (p.Leu1058Pro)
c.3146T>C (p.Leu1049Pro)
7g.150946884A>TCA369851892KCNH2n.4156T>A
c.3323T>A (p.Leu1108His)
c.2303T>A (p.Leu768His)
c.3023T>A (p.Leu1008His)
c.3173T>A (p.Leu1058His)
c.3146T>A (p.Leu1049His)
7g.150946885G>ACA369851894KCNH2n.4155C>T
c.3322C>T (p.Leu1108Phe)
c.2302C>T (p.Leu768Phe)
c.3022C>T (p.Leu1008Phe)
c.3172C>T (p.Leu1058Phe)
c.3145C>T (p.Leu1049Phe)
7g.150946885G>CCA008187KCNH2n.4155C>G
c.3322C>G (p.Leu1108Val)
c.2302C>G (p.Leu768Val)
c.3022C>G (p.Leu1008Val)
c.3172C>G (p.Leu1058Val)
c.3145C>G (p.Leu1049Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946885G=CA1752427299KCNH2n.4155C=
c.3322C= (p.Leu1108=)
c.2302C= (p.Leu768=)
c.3022C= (p.Leu1008=)
c.3172C= (p.Leu1058=)
c.3145C= (p.Leu1049=)
7g.150946885G>TCA369851897KCNH2n.4155C>A
c.3322C>A (p.Leu1108Ile)
c.2302C>A (p.Leu768Ile)
c.3022C>A (p.Leu1008Ile)
c.3172C>A (p.Leu1058Ile)
c.3145C>A (p.Leu1049Ile)
7g.150946886C>ACA458644633KCNH2n.4154G>T
c.3321G>T (p.Ser1107=)
c.2301G>T (p.Ser767=)
c.3021G>T (p.Ser1007=)
c.3171G>T (p.Ser1057=)
c.3144G>T (p.Ser1048=)
7g.150946886C=CA1752427317KCNH2n.4154G=
c.3321G= (p.Ser1107=)
c.2301G= (p.Ser767=)
c.3021G= (p.Ser1007=)
c.3171G= (p.Ser1057=)
c.3144G= (p.Ser1048=)
7g.150946886C>GCA038392KCNH2n.4154G>C
c.3321G>C (p.Ser1107=)
c.2301G>C (p.Ser767=)
c.3021G>C (p.Ser1007=)
c.3171G>C (p.Ser1057=)
c.3144G>C (p.Ser1048=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946886C>TCA038381KCNH2n.4154G>A
c.3321G>A (p.Ser1107=)
c.2301G>A (p.Ser767=)
c.3021G>A (p.Ser1007=)
c.3171G>A (p.Ser1057=)
c.3144G>A (p.Ser1048=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946886_150946887insTGCA2685600521KCNH2n.4153_4154insCA
c.3320_3321insCA (p.Leu1108SerfsTer?)
c.2300_2301insCA (p.Leu768SerfsTer?)
c.3020_3021insCA (p.Leu1008SerfsTer?)
c.3170_3171insCA (p.Leu1058SerfsTer?)
c.3143_3144insCA (p.Leu1049SerfsTer?)
gnomAD v4
7g.150946887G>ACA369851900KCNH2n.4153C>T
c.3320C>T (p.Ser1107Leu)
c.2300C>T (p.Ser767Leu)
c.3020C>T (p.Ser1007Leu)
c.3170C>T (p.Ser1057Leu)
c.3143C>T (p.Ser1048Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946887G>CCA369851901KCNH2n.4153C>G
c.3320C>G (p.Ser1107Trp)
c.2300C>G (p.Ser767Trp)
c.3020C>G (p.Ser1007Trp)
c.3170C>G (p.Ser1057Trp)
c.3143C>G (p.Ser1048Trp)
gnomAD v4
7g.150946887G=CA1752427320KCNH2n.4153C=
c.3320C= (p.Ser1107=)
c.2300C= (p.Ser767=)
c.3020C= (p.Ser1007=)
c.3170C= (p.Ser1057=)
c.3143C= (p.Ser1048=)
7g.150946887G>TCA369851903KCNH2n.4153C>A
c.3320C>A (p.Ser1107Ter)
c.2300C>A (p.Ser767Ter)
c.3020C>A (p.Ser1007Ter)
c.3170C>A (p.Ser1057Ter)
c.3143C>A (p.Ser1048Ter)
7g.150946888A>CCA369851907KCNH2n.4152T>G
c.3319T>G (p.Ser1107Ala)
c.2299T>G (p.Ser767Ala)
c.3019T>G (p.Ser1007Ala)
c.3169T>G (p.Ser1057Ala)
c.3142T>G (p.Ser1048Ala)
7g.150946888A>GCA369851908KCNH2n.4152T>C
c.3319T>C (p.Ser1107Pro)
c.2299T>C (p.Ser767Pro)
c.3019T>C (p.Ser1007Pro)
c.3169T>C (p.Ser1057Pro)
c.3142T>C (p.Ser1048Pro)
gnomAD v4
7g.150946888A>TCA369851905KCNH2n.4152T>A
c.3319T>A (p.Ser1107Thr)
c.2299T>A (p.Ser767Thr)
c.3019T>A (p.Ser1007Thr)
c.3169T>A (p.Ser1057Thr)
c.3142T>A (p.Ser1048Thr)
7g.150946889G>ACA038364KCNH2n.4151C>T
c.3318C>T (p.Asp1106=)
c.2298C>T (p.Asp766=)
c.3018C>T (p.Asp1006=)
c.3168C>T (p.Asp1056=)
c.3141C>T (p.Asp1047=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946889G>CCA369851909KCNH2n.4151C>G
c.3318C>G (p.Asp1106Glu)
c.2298C>G (p.Asp766Glu)
c.3018C>G (p.Asp1006Glu)
c.3168C>G (p.Asp1056Glu)
c.3141C>G (p.Asp1047Glu)
7g.150946889G=CA1752427323KCNH2n.4151C=
c.3318C= (p.Asp1106=)
c.2298C= (p.Asp766=)
c.3018C= (p.Asp1006=)
c.3168C= (p.Asp1056=)
c.3141C= (p.Asp1047=)
7g.150946889G>TCA369851911KCNH2n.4151C>A
c.3318C>A (p.Asp1106Glu)
c.2298C>A (p.Asp766Glu)
c.3018C>A (p.Asp1006Glu)
c.3168C>A (p.Asp1056Glu)
c.3141C>A (p.Asp1047Glu)
7g.150946889_150946890insCCA2685600522KCNH2n.4150_4151insG
c.3317_3318insG (p.Asp1106GlufsTer13)
c.2297_2298insG (p.Asp766GlufsTer13)
c.3017_3018insG (p.Asp1006GlufsTer13)
c.3167_3168insG (p.Asp1056GlufsTer13)
c.3140_3141insG (p.Asp1047GlufsTer13)
gnomAD v4
7g.150946890T>ACA369851913KCNH2n.4150A>T
c.3317A>T (p.Asp1106Val)
c.2297A>T (p.Asp766Val)
c.3017A>T (p.Asp1006Val)
c.3167A>T (p.Asp1056Val)
c.3140A>T (p.Asp1047Val)
7g.150946890T>CCA369851915KCNH2n.4150A>G
c.3317A>G (p.Asp1106Gly)
c.2297A>G (p.Asp766Gly)
c.3017A>G (p.Asp1006Gly)
c.3167A>G (p.Asp1056Gly)
c.3140A>G (p.Asp1047Gly)
7g.150946890T>GCA369851916KCNH2n.4150A>C
c.3317A>C (p.Asp1106Ala)
c.2297A>C (p.Asp766Ala)
c.3017A>C (p.Asp1006Ala)
c.3167A>C (p.Asp1056Ala)
c.3140A>C (p.Asp1047Ala)
dbSNP gnomAD v3 gnomAD v4
7g.150946890T=CA1752427325KCNH2n.4150A=
c.3317A= (p.Asp1106=)
c.2297A= (p.Asp766=)
c.3017A= (p.Asp1006=)
c.3167A= (p.Asp1056=)
c.3140A= (p.Asp1047=)
7g.150946890_150946891insTACCCTCACCA2685600523KCNH2n.4149_4150insGTGAGGGTA
c.3316_3317insGTGAGGGTA (p.Asp1106delinsGlyGluGlyAsn)
c.2296_2297insGTGAGGGTA (p.Asp766delinsGlyGluGlyAsn)
c.3016_3017insGTGAGGGTA (p.Asp1006delinsGlyGluGlyAsn)
c.3166_3167insGTGAGGGTA (p.Asp1056delinsGlyGluGlyAsn)
c.3139_3140insGTGAGGGTA (p.Asp1047delinsGlyGluGlyAsn)
gnomAD v4
7g.150946891C>ACA369851918KCNH2n.4149G>T
c.3316G>T (p.Asp1106Tyr)
c.2296G>T (p.Asp766Tyr)
c.3016G>T (p.Asp1006Tyr)
c.3166G>T (p.Asp1056Tyr)
c.3139G>T (p.Asp1047Tyr)
gnomAD v4
7g.150946891C=CA1752427328KCNH2n.4149G=
c.3316G= (p.Asp1106=)
c.2296G= (p.Asp766=)
c.3016G= (p.Asp1006=)
c.3166G= (p.Asp1056=)
c.3139G= (p.Asp1047=)
7g.150946891C>GCA369851922KCNH2n.4149G>C
c.3316G>C (p.Asp1106His)
c.2296G>C (p.Asp766His)
c.3016G>C (p.Asp1006His)
c.3166G>C (p.Asp1056His)
c.3139G>C (p.Asp1047His)
7g.150946891C>TCA369851920KCNH2n.4149G>A
c.3316G>A (p.Asp1106Asn)
c.2296G>A (p.Asp766Asn)
c.3016G>A (p.Asp1006Asn)
c.3166G>A (p.Asp1056Asn)
c.3139G>A (p.Asp1047Asn)
dbSNP gnomAD v4
7g.150946892C>ACA369851923KCNH2n.4148G>T
c.3315G>T (p.Leu1105Phe)
c.2295G>T (p.Leu765Phe)
c.3015G>T (p.Leu1005Phe)
c.3165G>T (p.Leu1055Phe)
c.3138G>T (p.Leu1046Phe)
gnomAD v4
7g.150946892C=CA1752427332KCNH2n.4148G=
c.3315G= (p.Leu1105=)
c.2295G= (p.Leu765=)
c.3015G= (p.Leu1005=)
c.3165G= (p.Leu1055=)
c.3138G= (p.Leu1046=)
7g.150946892C>GCA369851924KCNH2n.4148G>C
c.3315G>C (p.Leu1105Phe)
c.2295G>C (p.Leu765Phe)
c.3015G>C (p.Leu1005Phe)
c.3165G>C (p.Leu1055Phe)
c.3138G>C (p.Leu1046Phe)
ClinVar dbSNP
7g.150946892C>TCA458644636KCNH2n.4148G>A
c.3315G>A (p.Leu1105=)
c.2295G>A (p.Leu765=)
c.3015G>A (p.Leu1005=)
c.3165G>A (p.Leu1055=)
c.3138G>A (p.Leu1046=)
gnomAD v4
7g.150946893A=CA1752427336KCNH2n.4147T=
c.3314T= (p.Leu1105=)
c.2294T= (p.Leu765=)
c.3014T= (p.Leu1005=)
c.3164T= (p.Leu1055=)
c.3137T= (p.Leu1046=)
7g.150946893A>CCA369851926KCNH2n.4147T>G
c.3314T>G (p.Leu1105Trp)
c.2294T>G (p.Leu765Trp)
c.3014T>G (p.Leu1005Trp)
c.3164T>G (p.Leu1055Trp)
c.3137T>G (p.Leu1046Trp)
7g.150946893A>GCA038347KCNH2n.4147T>C
c.3314T>C (p.Leu1105Ser)
c.2294T>C (p.Leu765Ser)
c.3014T>C (p.Leu1005Ser)
c.3164T>C (p.Leu1055Ser)
c.3137T>C (p.Leu1046Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946893A>TCA369851928KCNH2n.4147T>A
c.3314T>A (p.Leu1105Ter)
c.2294T>A (p.Leu765Ter)
c.3014T>A (p.Leu1005Ter)
c.3164T>A (p.Leu1055Ter)
c.3137T>A (p.Leu1046Ter)
7g.150946894delCA2685600525KCNH2n.4147del
c.3314del (p.Leu1105TrpfsTer?)
c.2294del (p.Leu765TrpfsTer?)
c.3014del (p.Leu1005TrpfsTer?)
c.3164del (p.Leu1055TrpfsTer?)
c.3137del (p.Leu1046TrpfsTer?)
gnomAD v4
7g.150946894A>CCA369851930KCNH2n.4146T>G
c.3313T>G (p.Leu1105Val)
c.2293T>G (p.Leu765Val)
c.3013T>G (p.Leu1005Val)
c.3163T>G (p.Leu1055Val)
c.3136T>G (p.Leu1046Val)
7g.150946894A>GCA458644638KCNH2n.4146T>C
c.3313T>C (p.Leu1105=)
c.2293T>C (p.Leu765=)
c.3013T>C (p.Leu1005=)
c.3163T>C (p.Leu1055=)
c.3136T>C (p.Leu1046=)
gnomAD v4
7g.150946894A>TCA369851931KCNH2n.4146T>A
c.3313T>A (p.Leu1105Met)
c.2293T>A (p.Leu765Met)
c.3013T>A (p.Leu1005Met)
c.3163T>A (p.Leu1055Met)
c.3136T>A (p.Leu1046Met)
7g.150946895G>ACA458644639KCNH2n.4145C>T
c.3312C>T (p.Thr1104=)
c.2292C>T (p.Thr764=)
c.3012C>T (p.Thr1004=)
c.3162C>T (p.Thr1054=)
c.3135C>T (p.Thr1045=)
ClinVar
7g.150946895G>CCA458644640KCNH2n.4145C>G
c.3312C>G (p.Thr1104=)
c.2292C>G (p.Thr764=)
c.3012C>G (p.Thr1004=)
c.3162C>G (p.Thr1054=)
c.3135C>G (p.Thr1045=)
7g.150946895G>TCA458644641KCNH2n.4145C>A
c.3312C>A (p.Thr1104=)
c.2292C>A (p.Thr764=)
c.3012C>A (p.Thr1004=)
c.3162C>A (p.Thr1054=)
c.3135C>A (p.Thr1045=)
7g.150946896G>ACA038325KCNH2n.4144C>T
c.3311C>T (p.Thr1104Ile)
c.2291C>T (p.Thr764Ile)
c.3011C>T (p.Thr1004Ile)
c.3161C>T (p.Thr1054Ile)
c.3134C>T (p.Thr1045Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946896G>CCA369851935KCNH2n.4144C>G
c.3311C>G (p.Thr1104Ser)
c.2291C>G (p.Thr764Ser)
c.3011C>G (p.Thr1004Ser)
c.3161C>G (p.Thr1054Ser)
c.3134C>G (p.Thr1045Ser)
7g.150946896G=CA1752427338KCNH2n.4144C=
c.3311C= (p.Thr1104=)
c.2291C= (p.Thr764=)
c.3011C= (p.Thr1004=)
c.3161C= (p.Thr1054=)
c.3134C= (p.Thr1045=)
7g.150946896G>TCA369851934KCNH2n.4144C>A
c.3311C>A (p.Thr1104Asn)
c.2291C>A (p.Thr764Asn)
c.3011C>A (p.Thr1004Asn)
c.3161C>A (p.Thr1054Asn)
c.3134C>A (p.Thr1045Asn)
dbSNP gnomAD v2 gnomAD v4
7g.150946897T>ACA369851937KCNH2n.4143A>T
c.3310A>T (p.Thr1104Ser)
c.2290A>T (p.Thr764Ser)
c.3010A>T (p.Thr1004Ser)
c.3160A>T (p.Thr1054Ser)
c.3133A>T (p.Thr1045Ser)
7g.150946897T>CCA369851938KCNH2n.4143A>G
c.3310A>G (p.Thr1104Ala)
c.2290A>G (p.Thr764Ala)
c.3010A>G (p.Thr1004Ala)
c.3160A>G (p.Thr1054Ala)
c.3133A>G (p.Thr1045Ala)
7g.150946897T>GCA169071190KCNH2n.4143A>C
c.3310A>C (p.Thr1104Pro)
c.2290A>C (p.Thr764Pro)
c.3010A>C (p.Thr1004Pro)
c.3160A>C (p.Thr1054Pro)
c.3133A>C (p.Thr1045Pro)
dbSNP gnomAD v3 gnomAD v4
7g.150946897T=CA1752427343KCNH2n.4143A=
c.3310A= (p.Thr1104=)
c.2290A= (p.Thr764=)
c.3010A= (p.Thr1004=)
c.3160A= (p.Thr1054=)
c.3133A= (p.Thr1045=)
7g.150946898G>ACA458644642KCNH2n.4142C>T
c.3309C>T (p.Leu1103=)
c.2289C>T (p.Leu763=)
c.3009C>T (p.Leu1003=)
c.3159C>T (p.Leu1053=)
c.3132C>T (p.Leu1044=)
dbSNP
7g.150946898G>CCA458644643KCNH2n.4142C>G
c.3309C>G (p.Leu1103=)
c.2289C>G (p.Leu763=)
c.3009C>G (p.Leu1003=)
c.3159C>G (p.Leu1053=)
c.3132C>G (p.Leu1044=)
7g.150946898G=CA1752427345KCNH2n.4142C=
c.3309C= (p.Leu1103=)
c.2289C= (p.Leu763=)
c.3009C= (p.Leu1003=)
c.3159C= (p.Leu1053=)
c.3132C= (p.Leu1044=)
7g.150946898G>TCA458644644KCNH2n.4142C>A
c.3309C>A (p.Leu1103=)
c.2289C>A (p.Leu763=)
c.3009C>A (p.Leu1003=)
c.3159C>A (p.Leu1053=)
c.3132C>A (p.Leu1044=)
7g.150946899A=CA1752427348KCNH2n.4141T=
c.3308T= (p.Leu1103=)
c.2288T= (p.Leu763=)
c.3008T= (p.Leu1003=)
c.3158T= (p.Leu1053=)
c.3131T= (p.Leu1044=)
7g.150946899A>CCA369851941KCNH2n.4141T>G
c.3308T>G (p.Leu1103Arg)
c.2288T>G (p.Leu763Arg)
c.3008T>G (p.Leu1003Arg)
c.3158T>G (p.Leu1053Arg)
c.3131T>G (p.Leu1044Arg)
7g.150946899A>GCA038307KCNH2n.4141T>C
c.3308T>C (p.Leu1103Pro)
c.2288T>C (p.Leu763Pro)
c.3008T>C (p.Leu1003Pro)
c.3158T>C (p.Leu1053Pro)
c.3131T>C (p.Leu1044Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946899A>TCA369851942KCNH2n.4141T>A
c.3308T>A (p.Leu1103His)
c.2288T>A (p.Leu763His)
c.3008T>A (p.Leu1003His)
c.3158T>A (p.Leu1053His)
c.3131T>A (p.Leu1044His)
7g.150946900G>ACA369851944KCNH2n.4140C>T
c.3307C>T (p.Leu1103Phe)
c.2287C>T (p.Leu763Phe)
c.3007C>T (p.Leu1003Phe)
c.3157C>T (p.Leu1053Phe)
c.3130C>T (p.Leu1044Phe)
COSMIC COSMIC
7g.150946900G>CCA369851946KCNH2n.4140C>G
c.3307C>G (p.Leu1103Val)
c.2287C>G (p.Leu763Val)
c.3007C>G (p.Leu1003Val)
c.3157C>G (p.Leu1053Val)
c.3130C>G (p.Leu1044Val)
7g.150946900G>TCA369851948KCNH2n.4140C>A
c.3307C>A (p.Leu1103Ile)
c.2287C>A (p.Leu763Ile)
c.3007C>A (p.Leu1003Ile)
c.3157C>A (p.Leu1053Ile)
c.3130C>A (p.Leu1044Ile)
7g.150946901G>ACA458644646KCNH2n.4139C>T
c.3306C>T (p.Thr1102=)
c.2286C>T (p.Thr762=)
c.3006C>T (p.Thr1002=)
c.3156C>T (p.Thr1052=)
c.3129C>T (p.Thr1043=)
gnomAD v4
7g.150946901G>CCA458644647KCNH2n.4139C>G
c.3306C>G (p.Thr1102=)
c.2286C>G (p.Thr762=)
c.3006C>G (p.Thr1002=)
c.3156C>G (p.Thr1052=)
c.3129C>G (p.Thr1043=)
7g.150946901G>TCA458644648KCNH2n.4139C>A
c.3306C>A (p.Thr1102=)
c.2286C>A (p.Thr762=)
c.3006C>A (p.Thr1002=)
c.3156C>A (p.Thr1052=)
c.3129C>A (p.Thr1043=)
7g.150946902G>ACA008180KCNH2n.4138C>T
c.3305C>T (p.Thr1102Ile)
c.2285C>T (p.Thr762Ile)
c.3005C>T (p.Thr1002Ile)
c.3155C>T (p.Thr1052Ile)
c.3128C>T (p.Thr1043Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150946902G>CCA369851950KCNH2n.4138C>G
c.3305C>G (p.Thr1102Ser)
c.2285C>G (p.Thr762Ser)
c.3005C>G (p.Thr1002Ser)
c.3155C>G (p.Thr1052Ser)
c.3128C>G (p.Thr1043Ser)
7g.150946902G=CA1752427356KCNH2n.4138C=
c.3305C= (p.Thr1102=)
c.2285C= (p.Thr762=)
c.3005C= (p.Thr1002=)
c.3155C= (p.Thr1052=)
c.3128C= (p.Thr1043=)
7g.150946902G>TCA369851952KCNH2n.4138C>A
c.3305C>A (p.Thr1102Asn)
c.2285C>A (p.Thr762Asn)
c.3005C>A (p.Thr1002Asn)
c.3155C>A (p.Thr1052Asn)
c.3128C>A (p.Thr1043Asn)
gnomAD v4
7g.150946903T>ACA369851953KCNH2n.4137A>T
c.3304A>T (p.Thr1102Ser)
c.2284A>T (p.Thr762Ser)
c.3004A>T (p.Thr1002Ser)
c.3154A>T (p.Thr1052Ser)
c.3127A>T (p.Thr1043Ser)
7g.150946903T>CCA369851956KCNH2n.4137A>G
c.3304A>G (p.Thr1102Ala)
c.2284A>G (p.Thr762Ala)
c.3004A>G (p.Thr1002Ala)
c.3154A>G (p.Thr1052Ala)
c.3127A>G (p.Thr1043Ala)
7g.150946903T>GCA369851954KCNH2n.4137A>C
c.3304A>C (p.Thr1102Pro)
c.2284A>C (p.Thr762Pro)
c.3004A>C (p.Thr1002Pro)
c.3154A>C (p.Thr1052Pro)
c.3127A>C (p.Thr1043Pro)
dbSNP gnomAD v3 gnomAD v4
7g.150946903T=CA1752427362KCNH2n.4137A=
c.3304A= (p.Thr1102=)
c.2284A= (p.Thr762=)
c.3004A= (p.Thr1002=)
c.3154A= (p.Thr1052=)
c.3127A= (p.Thr1043=)
7g.150946903_150946928delinsTGGGGAGGGGGCTGACGGGCAACAGCCA1752427363KCNH2n.4112_4137delinsGCTGTTGCCCGTCAGCCCCCTCCCCA
c.3279_3304delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1093=)
c.2259_2284delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro753=)
c.2979_3004delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro993=)
c.3129_3154delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1043=)
c.3102_3127delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1034=)
7g.150946904G>ACA038286KCNH2n.4136C>T
c.3303C>T (p.Pro1101=)
c.2283C>T (p.Pro761=)
c.3003C>T (p.Pro1001=)
c.3153C>T (p.Pro1051=)
c.3126C>T (p.Pro1042=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946904G>CCA458644650KCNH2n.4136C>G
c.3303C>G (p.Pro1101=)
c.2283C>G (p.Pro761=)
c.3003C>G (p.Pro1001=)
c.3153C>G (p.Pro1051=)
c.3126C>G (p.Pro1042=)
dbSNP gnomAD v4
7g.150946904G=CA1752427370KCNH2n.4136C=
c.3303C= (p.Pro1101=)
c.2283C= (p.Pro761=)
c.3003C= (p.Pro1001=)
c.3153C= (p.Pro1051=)
c.3126C= (p.Pro1042=)
7g.150946904G>TCA458644652KCNH2n.4136C>A
c.3303C>A (p.Pro1101=)
c.2283C>A (p.Pro761=)
c.3003C>A (p.Pro1001=)
c.3153C>A (p.Pro1051=)
c.3126C>A (p.Pro1042=)
gnomAD v4
7g.150946907dupCA2695208688KCNH2n.4136dup
c.3303dup (p.Thr1102HisfsTer17)
c.2283dup (p.Thr762HisfsTer17)
c.3003dup (p.Thr1002HisfsTer17)
c.3153dup (p.Thr1052HisfsTer17)
c.3126dup (p.Thr1043HisfsTer17)
7g.150946907delCA2685600553KCNH2n.4136del
c.3303del (p.Thr1102ProfsTer?)
c.2283del (p.Thr762ProfsTer?)
c.3003del (p.Thr1002ProfsTer?)
c.3153del (p.Thr1052ProfsTer?)
c.3126del (p.Thr1043ProfsTer?)
gnomAD v4
7g.150946909_150946933delCA658656007KCNH2n.4112_4136del
c.3279_3303del (p.Leu1094ProfsTer?)
c.2259_2283del (p.Leu754ProfsTer?)
c.2979_3003del (p.Leu994ProfsTer?)
c.3129_3153del (p.Leu1044ProfsTer?)
c.3102_3126del (p.Leu1035ProfsTer?)
ClinVar dbSNP
7g.150946905G>ACA008172KCNH2n.4135C>T
c.3302C>T (p.Pro1101Leu)
c.2282C>T (p.Pro761Leu)
c.3002C>T (p.Pro1001Leu)
c.3152C>T (p.Pro1051Leu)
c.3125C>T (p.Pro1042Leu)
ClinVar dbSNP gnomAD v4
7g.150946905G>CCA369851959KCNH2n.4135C>G
c.3302C>G (p.Pro1101Arg)
c.2282C>G (p.Pro761Arg)
c.3002C>G (p.Pro1001Arg)
c.3152C>G (p.Pro1051Arg)
c.3125C>G (p.Pro1042Arg)
dbSNP gnomAD v3 gnomAD v4
7g.150946905G=CA1752427398KCNH2n.4135C=
c.3302C= (p.Pro1101=)
c.2282C= (p.Pro761=)
c.3002C= (p.Pro1001=)
c.3152C= (p.Pro1051=)
c.3125C= (p.Pro1042=)
7g.150946905G>TCA369851961KCNH2n.4135C>A
c.3302C>A (p.Pro1101His)
c.2282C>A (p.Pro761His)
c.3002C>A (p.Pro1001His)
c.3152C>A (p.Pro1051His)
c.3125C>A (p.Pro1042His)
gnomAD v4
7g.150946906G>ACA369851963KCNH2n.4134C>T
c.3301C>T (p.Pro1101Ser)
c.2281C>T (p.Pro761Ser)
c.3001C>T (p.Pro1001Ser)
c.3151C>T (p.Pro1051Ser)
c.3124C>T (p.Pro1042Ser)
ClinVar dbSNP gnomAD v4
7g.150946906G>CCA369851965KCNH2n.4134C>G
c.3301C>G (p.Pro1101Ala)
c.2281C>G (p.Pro761Ala)
c.3001C>G (p.Pro1001Ala)
c.3151C>G (p.Pro1051Ala)
c.3124C>G (p.Pro1042Ala)
dbSNP gnomAD v4
7g.150946906G=CA1752427408KCNH2n.4134C=
c.3301C= (p.Pro1101=)
c.2281C= (p.Pro761=)
c.3001C= (p.Pro1001=)
c.3151C= (p.Pro1051=)
c.3124C= (p.Pro1042=)
7g.150946906G>TCA369851966KCNH2n.4134C>A
c.3301C>A (p.Pro1101Thr)
c.2281C>A (p.Pro761Thr)
c.3001C>A (p.Pro1001Thr)
c.3151C>A (p.Pro1051Thr)
c.3124C>A (p.Pro1042Thr)
7g.150946907G>ACA458644653KCNH2n.4133C>T
c.3300C>T (p.Leu1100=)
c.2280C>T (p.Leu760=)
c.3000C>T (p.Leu1000=)
c.3150C>T (p.Leu1050=)
c.3123C>T (p.Leu1041=)
7g.150946907G>CCA458644655KCNH2n.4133C>G
c.3300C>G (p.Leu1100=)
c.2280C>G (p.Leu760=)
c.3000C>G (p.Leu1000=)
c.3150C>G (p.Leu1050=)
c.3123C>G (p.Leu1041=)
7g.150946907G>TCA458644654KCNH2n.4133C>A
c.3300C>A (p.Leu1100=)
c.2280C>A (p.Leu760=)
c.3000C>A (p.Leu1000=)
c.3150C>A (p.Leu1050=)
c.3123C>A (p.Leu1041=)
COSMIC COSMIC
7g.150946908A>CCA369851968KCNH2n.4132T>G
c.3299T>G (p.Leu1100Arg)
c.2279T>G (p.Leu760Arg)
c.2999T>G (p.Leu1000Arg)
c.3149T>G (p.Leu1050Arg)
c.3122T>G (p.Leu1041Arg)
7g.150946908A>GCA369851970KCNH2n.4132T>C
c.3299T>C (p.Leu1100Pro)
c.2279T>C (p.Leu760Pro)
c.2999T>C (p.Leu1000Pro)
c.3149T>C (p.Leu1050Pro)
c.3122T>C (p.Leu1041Pro)
7g.150946908A>TCA369851971KCNH2n.4132T>A
c.3299T>A (p.Leu1100His)
c.2279T>A (p.Leu760His)
c.2999T>A (p.Leu1000His)
c.3149T>A (p.Leu1050His)
c.3122T>A (p.Leu1041His)
7g.150946909G>ACA369851975KCNH2n.4131C>T
c.3298C>T (p.Leu1100Phe)
c.2278C>T (p.Leu760Phe)
c.2998C>T (p.Leu1000Phe)
c.3148C>T (p.Leu1050Phe)
c.3121C>T (p.Leu1041Phe)
gnomAD v4
7g.150946909G>CCA369851976KCNH2n.4131C>G
c.3298C>G (p.Leu1100Val)
c.2278C>G (p.Leu760Val)
c.2998C>G (p.Leu1000Val)
c.3148C>G (p.Leu1050Val)
c.3121C>G (p.Leu1041Val)
7g.150946909G>TCA369851973KCNH2n.4131C>A
c.3298C>A (p.Leu1100Ile)
c.2278C>A (p.Leu760Ile)
c.2998C>A (p.Leu1000Ile)
c.3148C>A (p.Leu1050Ile)
c.3121C>A (p.Leu1041Ile)
7g.150946913delCA645565630KCNH2n.4131del
c.3298del (p.Leu1100SerfsTer?)
c.2278del (p.Leu760SerfsTer?)
c.2998del (p.Leu1000SerfsTer?)
c.3148del (p.Leu1050SerfsTer?)
c.3121del (p.Leu1041SerfsTer?)
COSMIC COSMIC
7g.150946910G>ACA458644657KCNH2n.4130C>T
c.3297C>T (p.Pro1099=)
c.2277C>T (p.Pro759=)
c.2997C>T (p.Pro999=)
c.3147C>T (p.Pro1049=)
c.3120C>T (p.Pro1040=)
7g.150946910G>CCA458644659KCNH2n.4130C>G
c.3297C>G (p.Pro1099=)
c.2277C>G (p.Pro759=)
c.2997C>G (p.Pro999=)
c.3147C>G (p.Pro1049=)
c.3120C>G (p.Pro1040=)
gnomAD v4
7g.150946910G>TCA458644661KCNH2n.4130C>A
c.3297C>A (p.Pro1099=)
c.2277C>A (p.Pro759=)
c.2997C>A (p.Pro999=)
c.3147C>A (p.Pro1049=)
c.3120C>A (p.Pro1040=)
7g.150946911G>ACA369851978KCNH2n.4129C>T
c.3296C>T (p.Pro1099Leu)
c.2276C>T (p.Pro759Leu)
c.2996C>T (p.Pro999Leu)
c.3146C>T (p.Pro1049Leu)
c.3119C>T (p.Pro1040Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150946911G>CCA369851979KCNH2n.4129C>G
c.3296C>G (p.Pro1099Arg)
c.2276C>G (p.Pro759Arg)
c.2996C>G (p.Pro999Arg)
c.3146C>G (p.Pro1049Arg)
c.3119C>G (p.Pro1040Arg)
7g.150946911G=CA1752427420KCNH2n.4129C=
c.3296C= (p.Pro1099=)
c.2276C= (p.Pro759=)
c.2996C= (p.Pro999=)
c.3146C= (p.Pro1049=)
c.3119C= (p.Pro1040=)
7g.150946911G>TCA369851981KCNH2n.4129C>A
c.3296C>A (p.Pro1099His)
c.2276C>A (p.Pro759His)
c.2996C>A (p.Pro999His)
c.3146C>A (p.Pro1049His)
c.3119C>A (p.Pro1040His)
7g.150946915_150946922delCA2695208689KCNH2n.4122_4129del
c.3289_3296del (p.Val1097ProfsTer19)
c.2269_2276del (p.Val757ProfsTer19)
c.2989_2996del (p.Val997ProfsTer19)
c.3139_3146del (p.Val1047ProfsTer19)
c.3112_3119del (p.Val1038ProfsTer19)
7g.150946912G>ACA369851983KCNH2n.4128C>T
c.3295C>T (p.Pro1099Ser)
c.2275C>T (p.Pro759Ser)
c.2995C>T (p.Pro999Ser)
c.3145C>T (p.Pro1049Ser)
c.3118C>T (p.Pro1040Ser)
7g.150946912G>CCA369851985KCNH2n.4128C>G
c.3295C>G (p.Pro1099Ala)
c.2275C>G (p.Pro759Ala)
c.2995C>G (p.Pro999Ala)
c.3145C>G (p.Pro1049Ala)
c.3118C>G (p.Pro1040Ala)
7g.150946912G>TCA369851986KCNH2n.4128C>A
c.3295C>A (p.Pro1099Thr)
c.2275C>A (p.Pro759Thr)
c.2995C>A (p.Pro999Thr)
c.3145C>A (p.Pro1049Thr)
c.3118C>A (p.Pro1040Thr)
gnomAD v4
7g.150946913G>ACA458644662KCNH2n.4127C>T
c.3294C>T (p.Ser1098=)
c.2274C>T (p.Ser758=)
c.2994C>T (p.Ser998=)
c.3144C>T (p.Ser1048=)
c.3117C>T (p.Ser1039=)
dbSNP gnomAD v2 gnomAD v4
7g.150946913G>CCA369851990KCNH2n.4127C>G
c.3294C>G (p.Ser1098Arg)
c.2274C>G (p.Ser758Arg)
c.2994C>G (p.Ser998Arg)
c.3144C>G (p.Ser1048Arg)
c.3117C>G (p.Ser1039Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946913G=CA1752427423KCNH2n.4127C=
c.3294C= (p.Ser1098=)
c.2274C= (p.Ser758=)
c.2994C= (p.Ser998=)
c.3144C= (p.Ser1048=)
c.3117C= (p.Ser1039=)
7g.150946913G>TCA369851988KCNH2n.4127C>A
c.3294C>A (p.Ser1098Arg)
c.2274C>A (p.Ser758Arg)
c.2994C>A (p.Ser998Arg)
c.3144C>A (p.Ser1048Arg)
c.3117C>A (p.Ser1039Arg)
gnomAD v4
7g.150946914C>ACA369851991KCNH2n.4126G>T
c.3293G>T (p.Ser1098Ile)
c.2273G>T (p.Ser758Ile)
c.2993G>T (p.Ser998Ile)
c.3143G>T (p.Ser1048Ile)
c.3116G>T (p.Ser1039Ile)
gnomAD v4
7g.150946914C>GCA369851993KCNH2n.4126G>C
c.3293G>C (p.Ser1098Thr)
c.2273G>C (p.Ser758Thr)
c.2993G>C (p.Ser998Thr)
c.3143G>C (p.Ser1048Thr)
c.3116G>C (p.Ser1039Thr)
7g.150946914C>TCA369851995KCNH2n.4126G>A
c.3293G>A (p.Ser1098Asn)
c.2273G>A (p.Ser758Asn)
c.2993G>A (p.Ser998Asn)
c.3143G>A (p.Ser1048Asn)
c.3116G>A (p.Ser1039Asn)
gnomAD v4
7g.150946915T>ACA369851997KCNH2n.4125A>T
c.3292A>T (p.Ser1098Cys)
c.2272A>T (p.Ser758Cys)
c.2992A>T (p.Ser998Cys)
c.3142A>T (p.Ser1048Cys)
c.3115A>T (p.Ser1039Cys)
7g.150946915T>CCA369851998KCNH2n.4125A>G
c.3292A>G (p.Ser1098Gly)
c.2272A>G (p.Ser758Gly)
c.2992A>G (p.Ser998Gly)
c.3142A>G (p.Ser1048Gly)
c.3115A>G (p.Ser1039Gly)
gnomAD v4
7g.150946915T>GCA369852000KCNH2n.4125A>C
c.3292A>C (p.Ser1098Arg)
c.2272A>C (p.Ser758Arg)
c.2992A>C (p.Ser998Arg)
c.3142A>C (p.Ser1048Arg)
c.3115A>C (p.Ser1039Arg)
ClinVar dbSNP
7g.150946915T=CA1752427430KCNH2n.4125A=
c.3292A= (p.Ser1098=)
c.2272A= (p.Ser758=)
c.2992A= (p.Ser998=)
c.3142A= (p.Ser1048=)
c.3115A= (p.Ser1039=)
7g.150946916G>ACA458644664KCNH2n.4124C>T
c.3291C>T (p.Val1097=)
c.2271C>T (p.Val757=)
c.2991C>T (p.Val997=)
c.3141C>T (p.Val1047=)
c.3114C>T (p.Val1038=)
gnomAD v4
7g.150946916G>CCA458644665KCNH2n.4124C>G
c.3291C>G (p.Val1097=)
c.2271C>G (p.Val757=)
c.2991C>G (p.Val997=)
c.3141C>G (p.Val1047=)
c.3114C>G (p.Val1038=)
7g.150946916G=CA1752427435KCNH2n.4124C=
c.3291C= (p.Val1097=)
c.2271C= (p.Val757=)
c.2991C= (p.Val997=)
c.3141C= (p.Val1047=)
c.3114C= (p.Val1038=)
7g.150946916G>TCA458644666KCNH2n.4124C>A
c.3291C>A (p.Val1097=)
c.2271C>A (p.Val757=)
c.2991C>A (p.Val997=)
c.3141C>A (p.Val1047=)
c.3114C>A (p.Val1038=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946917A=CA1752427438KCNH2n.4123T=
c.3290T= (p.Val1097=)
c.2270T= (p.Val757=)
c.2990T= (p.Val997=)
c.3140T= (p.Val1047=)
c.3113T= (p.Val1038=)
7g.150946917A>CCA369852002KCNH2n.4123T>G
c.3290T>G (p.Val1097Gly)
c.2270T>G (p.Val757Gly)
c.2990T>G (p.Val997Gly)
c.3140T>G (p.Val1047Gly)
c.3113T>G (p.Val1038Gly)
7g.150946917A>GCA369852005KCNH2n.4123T>C
c.3290T>C (p.Val1097Ala)
c.2270T>C (p.Val757Ala)
c.2990T>C (p.Val997Ala)
c.3140T>C (p.Val1047Ala)
c.3113T>C (p.Val1038Ala)
dbSNP gnomAD v2 gnomAD v4
7g.150946917A>TCA369852004KCNH2n.4123T>A
c.3290T>A (p.Val1097Asp)
c.2270T>A (p.Val757Asp)
c.2990T>A (p.Val997Asp)
c.3140T>A (p.Val1047Asp)
c.3113T>A (p.Val1038Asp)
7g.150946917_150946918delCA2685600624KCNH2n.4122_4123del
c.3289_3290del (p.Val1097GlnfsTer21)
c.2269_2270del (p.Val757GlnfsTer21)
c.2989_2990del (p.Val997GlnfsTer21)
c.3139_3140del (p.Val1047GlnfsTer21)
c.3112_3113del (p.Val1038GlnfsTer21)
gnomAD v4
7g.150946918C>ACA369852006KCNH2n.4122G>T
c.3289G>T (p.Val1097Phe)
c.2269G>T (p.Val757Phe)
c.2989G>T (p.Val997Phe)
c.3139G>T (p.Val1047Phe)
c.3112G>T (p.Val1038Phe)
gnomAD v4
7g.150946918C=CA1752427444KCNH2n.4122G=
c.3289G= (p.Val1097=)
c.2269G= (p.Val757=)
c.2989G= (p.Val997=)
c.3139G= (p.Val1047=)
c.3112G= (p.Val1038=)
7g.150946918C>GCA369852007KCNH2n.4122G>C
c.3289G>C (p.Val1097Leu)
c.2269G>C (p.Val757Leu)
c.2989G>C (p.Val997Leu)
c.3139G>C (p.Val1047Leu)
c.3112G>C (p.Val1038Leu)
7g.150946918C>TCA008165KCNH2n.4122G>A
c.3289G>A (p.Val1097Ile)
c.2269G>A (p.Val757Ile)
c.2989G>A (p.Val997Ile)
c.3139G>A (p.Val1047Ile)
c.3112G>A (p.Val1038Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946919G>ACA038260KCNH2n.4121C>T
c.3288C>T (p.Pro1096=)
c.2268C>T (p.Pro756=)
c.2988C>T (p.Pro996=)
c.3138C>T (p.Pro1046=)
c.3111C>T (p.Pro1037=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946919G>CCA458644668KCNH2n.4121C>G
c.3288C>G (p.Pro1096=)
c.2268C>G (p.Pro756=)
c.2988C>G (p.Pro996=)
c.3138C>G (p.Pro1046=)
c.3111C>G (p.Pro1037=)
7g.150946919G=CA1752427450KCNH2n.4121C=
c.3288C= (p.Pro1096=)
c.2268C= (p.Pro756=)
c.2988C= (p.Pro996=)
c.3138C= (p.Pro1046=)
c.3111C= (p.Pro1037=)
7g.150946919G>TCA458644667KCNH2n.4121C>A
c.3288C>A (p.Pro1096=)
c.2268C>A (p.Pro756=)
c.2988C>A (p.Pro996=)
c.3138C>A (p.Pro1046=)
c.3111C>A (p.Pro1037=)
7g.150946920_150946935dupCA2580077682KCNH2n.4106_4121dup
c.3273_3288dup (p.Val1097IlefsTer27)
c.2253_2268dup (p.Val757IlefsTer27)
c.2973_2988dup (p.Val997IlefsTer27)
c.3123_3138dup (p.Val1047IlefsTer27)
c.3096_3111dup (p.Val1038IlefsTer27)
ClinVar
7g.150946920G>ACA369852010KCNH2n.4120C>T
c.3287C>T (p.Pro1096Leu)
c.2267C>T (p.Pro756Leu)
c.2987C>T (p.Pro996Leu)
c.3137C>T (p.Pro1046Leu)
c.3110C>T (p.Pro1037Leu)
gnomAD v4
7g.150946920G>CCA369852012KCNH2n.4120C>G
c.3287C>G (p.Pro1096Arg)
c.2267C>G (p.Pro756Arg)
c.2987C>G (p.Pro996Arg)
c.3137C>G (p.Pro1046Arg)
c.3110C>G (p.Pro1037Arg)
7g.150946920G>TCA369852013KCNH2n.4120C>A
c.3287C>A (p.Pro1096His)
c.2267C>A (p.Pro756His)
c.2987C>A (p.Pro996His)
c.3137C>A (p.Pro1046His)
c.3110C>A (p.Pro1037His)
7g.150946921G>ACA369852015KCNH2n.4119C>T
c.3286C>T (p.Pro1096Ser)
c.2266C>T (p.Pro756Ser)
c.2986C>T (p.Pro996Ser)
c.3136C>T (p.Pro1046Ser)
c.3109C>T (p.Pro1037Ser)
ClinVar dbSNP gnomAD v4
7g.150946921G>CCA369852016KCNH2n.4119C>G
c.3286C>G (p.Pro1096Ala)
c.2266C>G (p.Pro756Ala)
c.2986C>G (p.Pro996Ala)
c.3136C>G (p.Pro1046Ala)
c.3109C>G (p.Pro1037Ala)
7g.150946921G=CA1752427456KCNH2n.4119C=
c.3286C= (p.Pro1096=)
c.2266C= (p.Pro756=)
c.2986C= (p.Pro996=)
c.3136C= (p.Pro1046=)
c.3109C= (p.Pro1037=)
7g.150946921G>TCA369852018KCNH2n.4119C>A
c.3286C>A (p.Pro1096Thr)
c.2266C>A (p.Pro756Thr)
c.2986C>A (p.Pro996Thr)
c.3136C>A (p.Pro1046Thr)
c.3109C>A (p.Pro1037Thr)
ClinVar dbSNP gnomAD v4
7g.150946922C>ACA369852020KCNH2n.4118G>T
c.3285G>T (p.Leu1095Phe)
c.2265G>T (p.Leu755Phe)
c.2985G>T (p.Leu995Phe)
c.3135G>T (p.Leu1045Phe)
c.3108G>T (p.Leu1036Phe)
gnomAD v4
7g.150946922C=CA1752427462KCNH2n.4118G=
c.3285G= (p.Leu1095=)
c.2265G= (p.Leu755=)
c.2985G= (p.Leu995=)
c.3135G= (p.Leu1045=)
c.3108G= (p.Leu1036=)
7g.150946922C>GCA369852021KCNH2n.4118G>C
c.3285G>C (p.Leu1095Phe)
c.2265G>C (p.Leu755Phe)
c.2985G>C (p.Leu995Phe)
c.3135G>C (p.Leu1045Phe)
c.3108G>C (p.Leu1036Phe)
7g.150946922C>TCA458644672KCNH2n.4118G>A
c.3285G>A (p.Leu1095=)
c.2265G>A (p.Leu755=)
c.2985G>A (p.Leu995=)
c.3135G>A (p.Leu1045=)
c.3108G>A (p.Leu1036=)
dbSNP gnomAD v2 gnomAD v4
7g.150946923A>CCA369852026KCNH2n.4117T>G
c.3284T>G (p.Leu1095Trp)
c.2264T>G (p.Leu755Trp)
c.2984T>G (p.Leu995Trp)
c.3134T>G (p.Leu1045Trp)
c.3107T>G (p.Leu1036Trp)
7g.150946923A>GCA369852025KCNH2n.4117T>C
c.3284T>C (p.Leu1095Ser)
c.2264T>C (p.Leu755Ser)
c.2984T>C (p.Leu995Ser)
c.3134T>C (p.Leu1045Ser)
c.3107T>C (p.Leu1036Ser)
7g.150946923A>TCA369852023KCNH2n.4117T>A
c.3284T>A (p.Leu1095Ter)
c.2264T>A (p.Leu755Ter)
c.2984T>A (p.Leu995Ter)
c.3134T>A (p.Leu1045Ter)
c.3107T>A (p.Leu1036Ter)
7g.150946924A>CCA369852029KCNH2n.4116T>G
c.3283T>G (p.Leu1095Val)
c.2263T>G (p.Leu755Val)
c.2983T>G (p.Leu995Val)
c.3133T>G (p.Leu1045Val)
c.3106T>G (p.Leu1036Val)
7g.150946924A>GCA458644673KCNH2n.4116T>C
c.3283T>C (p.Leu1095=)
c.2263T>C (p.Leu755=)
c.2983T>C (p.Leu995=)
c.3133T>C (p.Leu1045=)
c.3106T>C (p.Leu1036=)
7g.150946924A>TCA369852028KCNH2n.4116T>A
c.3283T>A (p.Leu1095Met)
c.2263T>A (p.Leu755Met)
c.2983T>A (p.Leu995Met)
c.3133T>A (p.Leu1045Met)
c.3106T>A (p.Leu1036Met)
7g.150946925C>ACA458644674KCNH2n.4115G>T
c.3282G>T (p.Leu1094=)
c.2262G>T (p.Leu754=)
c.2982G>T (p.Leu994=)
c.3132G>T (p.Leu1044=)
c.3105G>T (p.Leu1035=)
gnomAD v4
7g.150946925C>GCA458644676KCNH2n.4115G>C
c.3282G>C (p.Leu1094=)
c.2262G>C (p.Leu754=)
c.2982G>C (p.Leu994=)
c.3132G>C (p.Leu1044=)
c.3105G>C (p.Leu1035=)
ClinVar dbSNP
7g.150946925C>TCA458644675KCNH2n.4115G>A
c.3282G>A (p.Leu1094=)
c.2262G>A (p.Leu754=)
c.2982G>A (p.Leu994=)
c.3132G>A (p.Leu1044=)
c.3105G>A (p.Leu1035=)
7g.150946926A>CCA369852033KCNH2n.4114T>G
c.3281T>G (p.Leu1094Arg)
c.2261T>G (p.Leu754Arg)
c.2981T>G (p.Leu994Arg)
c.3131T>G (p.Leu1044Arg)
c.3104T>G (p.Leu1035Arg)
7g.150946926A>GCA369852031KCNH2n.4114T>C
c.3281T>C (p.Leu1094Pro)
c.2261T>C (p.Leu754Pro)
c.2981T>C (p.Leu994Pro)
c.3131T>C (p.Leu1044Pro)
c.3104T>C (p.Leu1035Pro)
7g.150946926A>TCA369852034KCNH2n.4114T>A
c.3281T>A (p.Leu1094Gln)
c.2261T>A (p.Leu754Gln)
c.2981T>A (p.Leu994Gln)
c.3131T>A (p.Leu1044Gln)
c.3104T>A (p.Leu1035Gln)
7g.150946926dupCA2739279284KCNH2n.4114dup
c.3281dup (p.Leu1095ValfsTer24)
c.2261dup (p.Leu755ValfsTer24)
c.2981dup (p.Leu995ValfsTer24)
c.3131dup (p.Leu1045ValfsTer24)
c.3104dup (p.Leu1036ValfsTer24)
ClinVar
7g.150946927G>ACA458644677KCNH2n.4113C>T
c.3280C>T (p.Leu1094=)
c.2260C>T (p.Leu754=)
c.2980C>T (p.Leu994=)
c.3130C>T (p.Leu1044=)
c.3103C>T (p.Leu1035=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150946927G>CCA369852036KCNH2n.4113C>G
c.3280C>G (p.Leu1094Val)
c.2260C>G (p.Leu754Val)
c.2980C>G (p.Leu994Val)
c.3130C>G (p.Leu1044Val)
c.3103C>G (p.Leu1035Val)
7g.150946927G=CA1752427467KCNH2n.4113C=
c.3280C= (p.Leu1094=)
c.2260C= (p.Leu754=)
c.2980C= (p.Leu994=)
c.3130C= (p.Leu1044=)
c.3103C= (p.Leu1035=)
7g.150946927G>TCA038249KCNH2n.4113C>A
c.3280C>A (p.Leu1094Met)
c.2260C>A (p.Leu754Met)
c.2980C>A (p.Leu994Met)
c.3130C>A (p.Leu1044Met)
c.3103C>A (p.Leu1035Met)
dbSNP ExAC gnomAD v2 COSMIC COSMIC
7g.150946927_150946928delinsGCCA1752427470KCNH2n.4112_4113delinsGC
c.3279_3280delinsGC (p.Pro1093=)
c.2259_2260delinsGC (p.Pro753=)
c.2979_2980delinsGC (p.Pro993=)
c.3129_3130delinsGC (p.Pro1043=)
c.3102_3103delinsGC (p.Pro1034=)
7g.150946927_150946928delinsTTCA1139660327KCNH2n.4112_4113delinsAA
c.3279_3280delinsAA (p.Leu1094Met)
c.2259_2260delinsAA (p.Leu754Met)
c.2979_2980delinsAA (p.Leu994Met)
c.3129_3130delinsAA (p.Leu1044Met)
c.3102_3103delinsAA (p.Leu1035Met)
ClinVar dbSNP
7g.150946928C>ACA169071242KCNH2n.4112G>T
c.3279G>T (p.Pro1093=)
c.2259G>T (p.Pro753=)
c.2979G>T (p.Pro993=)
c.3129G>T (p.Pro1043=)
c.3102G>T (p.Pro1034=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946928C=CA1752427480KCNH2n.4112G=
c.3279G= (p.Pro1093=)
c.2259G= (p.Pro753=)
c.2979G= (p.Pro993=)
c.3129G= (p.Pro1043=)
c.3102G= (p.Pro1034=)
7g.150946928C>GCA458644678KCNH2n.4112G>C
c.3279G>C (p.Pro1093=)
c.2259G>C (p.Pro753=)
c.2979G>C (p.Pro993=)
c.3129G>C (p.Pro1043=)
c.3102G>C (p.Pro1034=)
7g.150946928C>TCA038233KCNH2n.4112G>A
c.3279G>A (p.Pro1093=)
c.2259G>A (p.Pro753=)
c.2979G>A (p.Pro993=)
c.3129G>A (p.Pro1043=)
c.3102G>A (p.Pro1034=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946929G>ACA008157KCNH2n.4111C>T
c.3278C>T (p.Pro1093Leu)
c.2258C>T (p.Pro753Leu)
c.2978C>T (p.Pro993Leu)
c.3128C>T (p.Pro1043Leu)
c.3101C>T (p.Pro1034Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946929G>CCA038207KCNH2n.4111C>G
c.3278C>G (p.Pro1093Arg)
c.2258C>G (p.Pro753Arg)
c.2978C>G (p.Pro993Arg)
c.3128C>G (p.Pro1043Arg)
c.3101C>G (p.Pro1034Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946929G=CA1752427486KCNH2n.4111C=
c.3278C= (p.Pro1093=)
c.2258C= (p.Pro753=)
c.2978C= (p.Pro993=)
c.3128C= (p.Pro1043=)
c.3101C= (p.Pro1034=)
7g.150946929G>TCA369852041KCNH2n.4111C>A
c.3278C>A (p.Pro1093Gln)
c.2258C>A (p.Pro753Gln)
c.2978C>A (p.Pro993Gln)
c.3128C>A (p.Pro1043Gln)
c.3101C>A (p.Pro1034Gln)
gnomAD v4
7g.150946931_150946932delCA2580077684KCNH2n.4110_4111del
c.3277_3278del (p.Pro1093AlafsTer25)
c.2257_2258del (p.Pro753AlafsTer25)
c.2977_2978del (p.Pro993AlafsTer25)
c.3127_3128del (p.Pro1043AlafsTer25)
c.3100_3101del (p.Pro1034AlafsTer25)
ClinVar
7g.150946930G>ACA369852042KCNH2n.4110C>T
c.3277C>T (p.Pro1093Ser)
c.2257C>T (p.Pro753Ser)
c.2977C>T (p.Pro993Ser)
c.3127C>T (p.Pro1043Ser)
c.3100C>T (p.Pro1034Ser)
7g.150946930G>CCA369852044KCNH2n.4110C>G
c.3277C>G (p.Pro1093Ala)
c.2257C>G (p.Pro753Ala)
c.2977C>G (p.Pro993Ala)
c.3127C>G (p.Pro1043Ala)
c.3100C>G (p.Pro1034Ala)
dbSNP
7g.150946930G=CA1752427495KCNH2n.4110C=
c.3277C= (p.Pro1093=)
c.2257C= (p.Pro753=)
c.2977C= (p.Pro993=)
c.3127C= (p.Pro1043=)
c.3100C= (p.Pro1034=)
7g.150946930G>TCA369852046KCNH2n.4110C>A
c.3277C>A (p.Pro1093Thr)
c.2257C>A (p.Pro753Thr)
c.2977C>A (p.Pro993Thr)
c.3127C>A (p.Pro1043Thr)
c.3100C>A (p.Pro1034Thr)
7g.150946931G>ACA038193KCNH2n.4109C>T
c.3276C>T (p.Ser1092=)
c.2256C>T (p.Ser752=)
c.2976C>T (p.Ser992=)
c.3126C>T (p.Ser1042=)
c.3099C>T (p.Ser1033=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946931G>CCA458644680KCNH2n.4109C>G
c.3276C>G (p.Ser1092=)
c.2256C>G (p.Ser752=)
c.2976C>G (p.Ser992=)
c.3126C>G (p.Ser1042=)
c.3099C>G (p.Ser1033=)
7g.150946931G=CA1752427503KCNH2n.4109C=
c.3276C= (p.Ser1092=)
c.2256C= (p.Ser752=)
c.2976C= (p.Ser992=)
c.3126C= (p.Ser1042=)
c.3099C= (p.Ser1033=)
7g.150946931G>TCA458644681KCNH2n.4109C>A
c.3276C>A (p.Ser1092=)
c.2256C>A (p.Ser752=)
c.2976C>A (p.Ser992=)
c.3126C>A (p.Ser1042=)
c.3099C>A (p.Ser1033=)
7g.150946932G>ACA038177KCNH2n.4108C>T
c.3275C>T (p.Ser1092Phe)
c.2255C>T (p.Ser752Phe)
c.2975C>T (p.Ser992Phe)
c.3125C>T (p.Ser1042Phe)
c.3098C>T (p.Ser1033Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946932G>CCA369852049KCNH2n.4108C>G
c.3275C>G (p.Ser1092Cys)
c.2255C>G (p.Ser752Cys)
c.2975C>G (p.Ser992Cys)
c.3125C>G (p.Ser1042Cys)
c.3098C>G (p.Ser1033Cys)
7g.150946932G=CA1752427509KCNH2n.4108C=
c.3275C= (p.Ser1092=)
c.2255C= (p.Ser752=)
c.2975C= (p.Ser992=)
c.3125C= (p.Ser1042=)
c.3098C= (p.Ser1033=)
7g.150946932G>TCA369852048KCNH2n.4108C>A
c.3275C>A (p.Ser1092Tyr)
c.2255C>A (p.Ser752Tyr)
c.2975C>A (p.Ser992Tyr)
c.3125C>A (p.Ser1042Tyr)
c.3098C>A (p.Ser1033Tyr)
7g.150946933A>CCA369852052KCNH2n.4107T>G
c.3274T>G (p.Ser1092Ala)
c.2254T>G (p.Ser752Ala)
c.2974T>G (p.Ser992Ala)
c.3124T>G (p.Ser1042Ala)
c.3097T>G (p.Ser1033Ala)
7g.150946933A>GCA369852053KCNH2n.4107T>C
c.3274T>C (p.Ser1092Pro)
c.2254T>C (p.Ser752Pro)
c.2974T>C (p.Ser992Pro)
c.3124T>C (p.Ser1042Pro)
c.3097T>C (p.Ser1033Pro)
7g.150946933A>TCA369852055KCNH2n.4107T>A
c.3274T>A (p.Ser1092Thr)
c.2254T>A (p.Ser752Thr)
c.2974T>A (p.Ser992Thr)
c.3124T>A (p.Ser1042Thr)
c.3097T>A (p.Ser1033Thr)
7g.150946934T>ACA458644684KCNH2n.4106A>T
c.3273A>T (p.Thr1091=)
c.2253A>T (p.Thr751=)
c.2973A>T (p.Thr991=)
c.3123A>T (p.Thr1041=)
c.3096A>T (p.Thr1032=)
7g.150946934T>CCA458644682KCNH2n.4106A>G
c.3273A>G (p.Thr1091=)
c.2253A>G (p.Thr751=)
c.2973A>G (p.Thr991=)
c.3123A>G (p.Thr1041=)
c.3096A>G (p.Thr1032=)
gnomAD v4
7g.150946934T>GCA458644683KCNH2n.4106A>C
c.3273A>C (p.Thr1091=)
c.2253A>C (p.Thr751=)
c.2973A>C (p.Thr991=)
c.3123A>C (p.Thr1041=)
c.3096A>C (p.Thr1032=)
7g.150946935G>ACA369852057KCNH2n.4105C>T
c.3272C>T (p.Thr1091Ile)
c.2252C>T (p.Thr751Ile)
c.2972C>T (p.Thr991Ile)
c.3122C>T (p.Thr1041Ile)
c.3095C>T (p.Thr1032Ile)
7g.150946935G>CCA369852058KCNH2n.4105C>G
c.3272C>G (p.Thr1091Arg)
c.2252C>G (p.Thr751Arg)
c.2972C>G (p.Thr991Arg)
c.3122C>G (p.Thr1041Arg)
c.3095C>G (p.Thr1032Arg)
gnomAD v4
7g.150946935G>TCA369852060KCNH2n.4105C>A
c.3272C>A (p.Thr1091Lys)
c.2252C>A (p.Thr751Lys)
c.2972C>A (p.Thr991Lys)
c.3122C>A (p.Thr1041Lys)
c.3095C>A (p.Thr1032Lys)
7g.150946936T>ACA369852062KCNH2n.4104A>T
c.3271A>T (p.Thr1091Ser)
c.2251A>T (p.Thr751Ser)
c.2971A>T (p.Thr991Ser)
c.3121A>T (p.Thr1041Ser)
c.3094A>T (p.Thr1032Ser)
7g.150946936T>CCA369852064KCNH2n.4104A>G
c.3271A>G (p.Thr1091Ala)
c.2251A>G (p.Thr751Ala)
c.2971A>G (p.Thr991Ala)
c.3121A>G (p.Thr1041Ala)
c.3094A>G (p.Thr1032Ala)
7g.150946936T>GCA369852065KCNH2n.4104A>C
c.3271A>C (p.Thr1091Pro)
c.2251A>C (p.Thr751Pro)
c.2971A>C (p.Thr991Pro)
c.3121A>C (p.Thr1041Pro)
c.3094A>C (p.Thr1032Pro)
gnomAD v4
7g.150946937G>ACA458644687KCNH2n.4103C>T
c.3270C>T (p.Ser1090=)
c.2250C>T (p.Ser750=)
c.2970C>T (p.Ser990=)
c.3120C>T (p.Ser1040=)
c.3093C>T (p.Ser1031=)
7g.150946937G>CCA458644688KCNH2n.4103C>G
c.3270C>G (p.Ser1090=)
c.2250C>G (p.Ser750=)
c.2970C>G (p.Ser990=)
c.3120C>G (p.Ser1040=)
c.3093C>G (p.Ser1031=)
7g.150946937G>TCA458644689KCNH2n.4103C>A
c.3270C>A (p.Ser1090=)
c.2250C>A (p.Ser750=)
c.2970C>A (p.Ser990=)
c.3120C>A (p.Ser1040=)
c.3093C>A (p.Ser1031=)
7g.150946938G>ACA038159KCNH2n.4102C>T
c.3269C>T (p.Ser1090Phe)
c.2249C>T (p.Ser750Phe)
c.2969C>T (p.Ser990Phe)
c.3119C>T (p.Ser1040Phe)
c.3092C>T (p.Ser1031Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946938G>CCA369852068KCNH2n.4102C>G
c.3269C>G (p.Ser1090Cys)
c.2249C>G (p.Ser750Cys)
c.2969C>G (p.Ser990Cys)
c.3119C>G (p.Ser1040Cys)
c.3092C>G (p.Ser1031Cys)
7g.150946938G=CA1752427514KCNH2n.4102C=
c.3269C= (p.Ser1090=)
c.2249C= (p.Ser750=)
c.2969C= (p.Ser990=)
c.3119C= (p.Ser1040=)
c.3092C= (p.Ser1031=)
7g.150946938G>TCA369852070KCNH2n.4102C>A
c.3269C>A (p.Ser1090Tyr)
c.2249C>A (p.Ser750Tyr)
c.2969C>A (p.Ser990Tyr)
c.3119C>A (p.Ser1040Tyr)
c.3092C>A (p.Ser1031Tyr)
7g.150946939A>CCA369852074KCNH2n.4101T>G
c.3268T>G (p.Ser1090Ala)
c.2248T>G (p.Ser750Ala)
c.2968T>G (p.Ser990Ala)
c.3118T>G (p.Ser1040Ala)
c.3091T>G (p.Ser1031Ala)
7g.150946939A>GCA369852073KCNH2n.4101T>C
c.3268T>C (p.Ser1090Pro)
c.2248T>C (p.Ser750Pro)
c.2968T>C (p.Ser990Pro)
c.3118T>C (p.Ser1040Pro)
c.3091T>C (p.Ser1031Pro)
7g.150946939A>TCA369852071KCNH2n.4101T>A
c.3268T>A (p.Ser1090Thr)
c.2248T>A (p.Ser750Thr)
c.2968T>A (p.Ser990Thr)
c.3118T>A (p.Ser1040Thr)
c.3091T>A (p.Ser1031Thr)
7g.150946940A>CCA458644690KCNH2n.4100T>G
c.3267T>G (p.Thr1089=)
c.2247T>G (p.Thr749=)
c.2967T>G (p.Thr989=)
c.3117T>G (p.Thr1039=)
c.3090T>G (p.Thr1030=)
7g.150946940A>GCA458644692KCNH2n.4100T>C
c.3267T>C (p.Thr1089=)
c.2247T>C (p.Thr749=)
c.2967T>C (p.Thr989=)
c.3117T>C (p.Thr1039=)
c.3090T>C (p.Thr1030=)
gnomAD v4
7g.150946940A>TCA458644691KCNH2n.4100T>A
c.3267T>A (p.Thr1089=)
c.2247T>A (p.Thr749=)
c.2967T>A (p.Thr989=)
c.3117T>A (p.Thr1039=)
c.3090T>A (p.Thr1030=)
7g.150946941G>ACA169071264KCNH2n.4099C>T
c.3266C>T (p.Thr1089Ile)
c.2246C>T (p.Thr749Ile)
c.2966C>T (p.Thr989Ile)
c.3116C>T (p.Thr1039Ile)
c.3089C>T (p.Thr1030Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946941G>CCA369852077KCNH2n.4099C>G
c.3266C>G (p.Thr1089Ser)
c.2246C>G (p.Thr749Ser)
c.2966C>G (p.Thr989Ser)
c.3116C>G (p.Thr1039Ser)
c.3089C>G (p.Thr1030Ser)
7g.150946941G=CA1752427516KCNH2n.4099C=
c.3266C= (p.Thr1089=)
c.2246C= (p.Thr749=)
c.2966C= (p.Thr989=)
c.3116C= (p.Thr1039=)
c.3089C= (p.Thr1030=)
7g.150946941G>TCA369852078KCNH2n.4099C>A
c.3266C>A (p.Thr1089Asn)
c.2246C>A (p.Thr749Asn)
c.2966C>A (p.Thr989Asn)
c.3116C>A (p.Thr1039Asn)
c.3089C>A (p.Thr1030Asn)
7g.150946945_150946962delCA2685600727KCNH2n.4082_4099del
c.3249_3266del (p.Pro1084_Thr1089del)
c.2229_2246del (p.Pro744_Thr749del)
c.2949_2966del (p.Pro984_Thr989del)
c.3099_3116del (p.Pro1034_Thr1039del)
c.3072_3089del (p.Pro1025_Thr1030del)
gnomAD v4
7g.150946942T>ACA369852079KCNH2n.4098A>T
c.3265A>T (p.Thr1089Ser)
c.2245A>T (p.Thr749Ser)
c.2965A>T (p.Thr989Ser)
c.3115A>T (p.Thr1039Ser)
c.3088A>T (p.Thr1030Ser)
7g.150946942T>CCA369852080KCNH2n.4098A>G
c.3265A>G (p.Thr1089Ala)
c.2245A>G (p.Thr749Ala)
c.2965A>G (p.Thr989Ala)
c.3115A>G (p.Thr1039Ala)
c.3088A>G (p.Thr1030Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946942T>GCA369852081KCNH2n.4098A>C
c.3265A>C (p.Thr1089Pro)
c.2245A>C (p.Thr749Pro)
c.2965A>C (p.Thr989Pro)
c.3115A>C (p.Thr1039Pro)
c.3088A>C (p.Thr1030Pro)
dbSNP
7g.150946942T=CA1752427520KCNH2n.4098A=
c.3265A= (p.Thr1089=)
c.2245A= (p.Thr749=)
c.2965A= (p.Thr989=)
c.3115A= (p.Thr1039=)
c.3088A= (p.Thr1030=)
7g.150946943G>ACA458644693KCNH2n.4097C>T
c.3264C>T (p.Pro1088=)
c.2244C>T (p.Pro748=)
c.2964C>T (p.Pro988=)
c.3114C>T (p.Pro1038=)
c.3087C>T (p.Pro1029=)
7g.150946943G>CCA458644694KCNH2n.4097C>G
c.3264C>G (p.Pro1088=)
c.2244C>G (p.Pro748=)
c.2964C>G (p.Pro988=)
c.3114C>G (p.Pro1038=)
c.3087C>G (p.Pro1029=)
ClinVar dbSNP
7g.150946943G=CA1752427524KCNH2n.4097C=
c.3264C= (p.Pro1088=)
c.2244C= (p.Pro748=)
c.2964C= (p.Pro988=)
c.3114C= (p.Pro1038=)
c.3087C= (p.Pro1029=)
7g.150946943G>TCA458644695KCNH2n.4097C>A
c.3264C>A (p.Pro1088=)
c.2244C>A (p.Pro748=)
c.2964C>A (p.Pro988=)
c.3114C>A (p.Pro1038=)
c.3087C>A (p.Pro1029=)
ClinVar gnomAD v4
7g.150946946delCA2685600734KCNH2n.4097del
c.3264del (p.Thr1089LeufsTer?)
c.2244del (p.Thr749LeufsTer?)
c.2964del (p.Thr989LeufsTer?)
c.3114del (p.Thr1039LeufsTer?)
c.3087del (p.Thr1030LeufsTer?)
gnomAD v4
7g.150946944G>ACA369852082KCNH2n.4096C>T
c.3263C>T (p.Pro1088Leu)
c.2243C>T (p.Pro748Leu)
c.2963C>T (p.Pro988Leu)
c.3113C>T (p.Pro1038Leu)
c.3086C>T (p.Pro1029Leu)
ClinVar
7g.150946944G>CCA369852083KCNH2n.4096C>G
c.3263C>G (p.Pro1088Arg)
c.2243C>G (p.Pro748Arg)
c.2963C>G (p.Pro988Arg)
c.3113C>G (p.Pro1038Arg)
c.3086C>G (p.Pro1029Arg)
ClinVar dbSNP
7g.150946944G=CA1752427532KCNH2n.4096C=
c.3263C= (p.Pro1088=)
c.2243C= (p.Pro748=)
c.2963C= (p.Pro988=)
c.3113C= (p.Pro1038=)
c.3086C= (p.Pro1029=)
7g.150946944G>TCA369852084KCNH2n.4096C>A
c.3263C>A (p.Pro1088His)
c.2243C>A (p.Pro748His)
c.2963C>A (p.Pro988His)
c.3113C>A (p.Pro1038His)
c.3086C>A (p.Pro1029His)
7g.150946945G>ACA369852085KCNH2n.4095C>T
c.3262C>T (p.Pro1088Ser)
c.2242C>T (p.Pro748Ser)
c.2962C>T (p.Pro988Ser)
c.3112C>T (p.Pro1038Ser)
c.3085C>T (p.Pro1029Ser)
dbSNP gnomAD v4
7g.150946945G>CCA369852086KCNH2n.4095C>G
c.3262C>G (p.Pro1088Ala)
c.2242C>G (p.Pro748Ala)
c.2962C>G (p.Pro988Ala)
c.3112C>G (p.Pro1038Ala)
c.3085C>G (p.Pro1029Ala)
dbSNP gnomAD v4
7g.150946945G=CA1752427536KCNH2n.4095C=
c.3262C= (p.Pro1088=)
c.2242C= (p.Pro748=)
c.2962C= (p.Pro988=)
c.3112C= (p.Pro1038=)
c.3085C= (p.Pro1029=)
7g.150946945G>TCA369852087KCNH2n.4095C>A
c.3262C>A (p.Pro1088Thr)
c.2242C>A (p.Pro748Thr)
c.2962C>A (p.Pro988Thr)
c.3112C>A (p.Pro1038Thr)
c.3085C>A (p.Pro1029Thr)
ClinVar
7g.150946947_150946957delCA2695208690KCNH2n.4085_4095del
c.3252_3262del (p.Gly1085HisfsTer?)
c.2232_2242del (p.Gly745HisfsTer?)
c.2952_2962del (p.Gly985HisfsTer?)
c.3102_3112del (p.Gly1035HisfsTer?)
c.3075_3085del (p.Gly1026HisfsTer?)
7g.150946946G>ACA458644696KCNH2n.4094C>T
c.3261C>T (p.Gly1087=)
c.2241C>T (p.Gly747=)
c.2961C>T (p.Gly987=)
c.3111C>T (p.Gly1037=)
c.3084C>T (p.Gly1028=)
ClinVar dbSNP gnomAD v4
7g.150946946G>CCA458644697KCNH2n.4094C>G
c.3261C>G (p.Gly1087=)
c.2241C>G (p.Gly747=)
c.2961C>G (p.Gly987=)
c.3111C>G (p.Gly1037=)
c.3084C>G (p.Gly1028=)
7g.150946946G=CA1752427541KCNH2n.4094C=
c.3261C= (p.Gly1087=)
c.2241C= (p.Gly747=)
c.2961C= (p.Gly987=)
c.3111C= (p.Gly1037=)
c.3084C= (p.Gly1028=)
7g.150946946G>TCA458644698KCNH2n.4094C>A
c.3261C>A (p.Gly1087=)
c.2241C>A (p.Gly747=)
c.2961C>A (p.Gly987=)
c.3111C>A (p.Gly1037=)
c.3084C>A (p.Gly1028=)
7g.150946946_150946948delinsGCCCA1752427540KCNH2n.4092_4094delinsGGC
c.3259_3261delinsGGC (p.Gly1087=)
c.2239_2241delinsGGC (p.Gly747=)
c.2959_2961delinsGGC (p.Gly987=)
c.3109_3111delinsGGC (p.Gly1037=)
c.3082_3084delinsGGC (p.Gly1028=)
7g.150946947C>ACA369852089KCNH2n.4093G>T
c.3260G>T (p.Gly1087Val)
c.2240G>T (p.Gly747Val)
c.2960G>T (p.Gly987Val)
c.3110G>T (p.Gly1037Val)
c.3083G>T (p.Gly1028Val)
gnomAD v4
7g.150946947C=CA1752427545KCNH2n.4093G=
c.3260G= (p.Gly1087=)
c.2240G= (p.Gly747=)
c.2960G= (p.Gly987=)
c.3110G= (p.Gly1037=)
c.3083G= (p.Gly1028=)
7g.150946947C>GCA369852088KCNH2n.4093G>C
c.3260G>C (p.Gly1087Ala)
c.2240G>C (p.Gly747Ala)
c.2960G>C (p.Gly987Ala)
c.3110G>C (p.Gly1037Ala)
c.3083G>C (p.Gly1028Ala)
7g.150946947C>TCA169071265KCNH2n.4093G>A
c.3260G>A (p.Gly1087Asp)
c.2240G>A (p.Gly747Asp)
c.2960G>A (p.Gly987Asp)
c.3110G>A (p.Gly1037Asp)
c.3083G>A (p.Gly1028Asp)
dbSNP
7g.150946947_150946948delCA579075341KCNH2n.4092_4093del
c.3259_3260del (p.Gly1087ProfsTer?)
c.2239_2240del (p.Gly747ProfsTer?)
c.2959_2960del (p.Gly987ProfsTer?)
c.3109_3110del (p.Gly1037ProfsTer?)
c.3082_3083del (p.Gly1028ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946948C>ACA369852090KCNH2n.4092G>T
c.3259G>T (p.Gly1087Cys)
c.2239G>T (p.Gly747Cys)
c.2959G>T (p.Gly987Cys)
c.3109G>T (p.Gly1037Cys)
c.3082G>T (p.Gly1028Cys)
7g.150946948C=CA1752427548KCNH2n.4092G=
c.3259G= (p.Gly1087=)
c.2239G= (p.Gly747=)
c.2959G= (p.Gly987=)
c.3109G= (p.Gly1037=)
c.3082G= (p.Gly1028=)
7g.150946948C>GCA369852091KCNH2n.4092G>C
c.3259G>C (p.Gly1087Arg)
c.2239G>C (p.Gly747Arg)
c.2959G>C (p.Gly987Arg)
c.3109G>C (p.Gly1037Arg)
c.3082G>C (p.Gly1028Arg)
7g.150946948C>TCA169071269KCNH2n.4092G>A
c.3259G>A (p.Gly1087Ser)
c.2239G>A (p.Gly747Ser)
c.2959G>A (p.Gly987Ser)
c.3109G>A (p.Gly1037Ser)
c.3082G>A (p.Gly1028Ser)
dbSNP
7g.150946949A=CA1752427550KCNH2n.4091T=
c.3258T= (p.Pro1086=)
c.2238T= (p.Pro746=)
c.2958T= (p.Pro986=)
c.3108T= (p.Pro1036=)
c.3081T= (p.Pro1027=)
7g.150946949A>CCA458644700KCNH2n.4091T>G
c.3258T>G (p.Pro1086=)
c.2238T>G (p.Pro746=)
c.2958T>G (p.Pro986=)
c.3108T>G (p.Pro1036=)
c.3081T>G (p.Pro1027=)
ClinVar gnomAD v4
7g.150946949A>GCA458644701KCNH2n.4091T>C
c.3258T>C (p.Pro1086=)
c.2238T>C (p.Pro746=)
c.2958T>C (p.Pro986=)
c.3108T>C (p.Pro1036=)
c.3081T>C (p.Pro1027=)
gnomAD v4
7g.150946949A>TCA458644699KCNH2n.4091T>A
c.3258T>A (p.Pro1086=)
c.2238T>A (p.Pro746=)
c.2958T>A (p.Pro986=)
c.3108T>A (p.Pro1036=)
c.3081T>A (p.Pro1027=)
gnomAD v4
7g.150946949_150946950insCCA2697557662KCNH2n.4090_4091insG
c.3257_3258insG (p.Gly1087TrpfsTer?)
c.2237_2238insG (p.Gly747TrpfsTer?)
c.2957_2958insG (p.Gly987TrpfsTer?)
c.3107_3108insG (p.Gly1037TrpfsTer?)
c.3080_3081insG (p.Gly1028TrpfsTer?)
ClinVar
7g.150946949_150946950insTCA579075342KCNH2n.4090_4091insA
c.3257_3258insA (p.Gly1087TrpfsTer?)
c.2237_2238insA (p.Gly747TrpfsTer?)
c.2957_2958insA (p.Gly987TrpfsTer?)
c.3107_3108insA (p.Gly1037TrpfsTer?)
c.3080_3081insA (p.Gly1028TrpfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946950G>ACA369852092KCNH2n.4090C>T
c.3257C>T (p.Pro1086Leu)
c.2237C>T (p.Pro746Leu)
c.2957C>T (p.Pro986Leu)
c.3107C>T (p.Pro1036Leu)
c.3080C>T (p.Pro1027Leu)
gnomAD v4
7g.150946950G>CCA369852093KCNH2n.4090C>G
c.3257C>G (p.Pro1086Arg)
c.2237C>G (p.Pro746Arg)
c.2957C>G (p.Pro986Arg)
c.3107C>G (p.Pro1036Arg)
c.3080C>G (p.Pro1027Arg)
7g.150946950G=CA1752427553KCNH2n.4090C=
c.3257C= (p.Pro1086=)
c.2237C= (p.Pro746=)
c.2957C= (p.Pro986=)
c.3107C= (p.Pro1036=)
c.3080C= (p.Pro1027=)
7g.150946950G>TCA369852094KCNH2n.4090C>A
c.3257C>A (p.Pro1086His)
c.2237C>A (p.Pro746His)
c.2957C>A (p.Pro986His)
c.3107C>A (p.Pro1036His)
c.3080C>A (p.Pro1027His)
7g.150946950_150946951insTGCTCA579075343KCNH2n.4089_4090insAGCA
c.3256_3257insAGCA (p.Pro1086GlnfsTer?)
c.2236_2237insAGCA (p.Pro746GlnfsTer?)
c.2956_2957insAGCA (p.Pro986GlnfsTer?)
c.3106_3107insAGCA (p.Pro1036GlnfsTer?)
c.3079_3080insAGCA (p.Pro1027GlnfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946951G>ACA369852095KCNH2n.4089C>T
c.3256C>T (p.Pro1086Ser)
c.2236C>T (p.Pro746Ser)
c.2956C>T (p.Pro986Ser)
c.3106C>T (p.Pro1036Ser)
c.3079C>T (p.Pro1027Ser)
7g.150946951G>CCA369852096KCNH2n.4089C>G
c.3256C>G (p.Pro1086Ala)
c.2236C>G (p.Pro746Ala)
c.2956C>G (p.Pro986Ala)
c.3106C>G (p.Pro1036Ala)
c.3079C>G (p.Pro1027Ala)
7g.150946951G>TCA369852097KCNH2n.4089C>A
c.3256C>A (p.Pro1086Thr)
c.2236C>A (p.Pro746Thr)
c.2956C>A (p.Pro986Thr)
c.3106C>A (p.Pro1036Thr)
c.3079C>A (p.Pro1027Thr)
7g.150946951_150946952delinsGCCA1752427556KCNH2n.4088_4089delinsGC
c.3255_3256delinsGC (p.Gly1085=)
c.2235_2236delinsGC (p.Gly745=)
c.2955_2956delinsGC (p.Gly985=)
c.3105_3106delinsGC (p.Gly1035=)
c.3078_3079delinsGC (p.Gly1026=)
7g.150946952C>ACA169071274KCNH2n.4088G>T
c.3255G>T (p.Gly1085=)
c.2235G>T (p.Gly745=)
c.2955G>T (p.Gly985=)
c.3105G>T (p.Gly1035=)
c.3078G>T (p.Gly1026=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946952C=CA1752427563KCNH2n.4088G=
c.3255G= (p.Gly1085=)
c.2235G= (p.Gly745=)
c.2955G= (p.Gly985=)
c.3105G= (p.Gly1035=)
c.3078G= (p.Gly1026=)
7g.150946952C>GCA458644703KCNH2n.4088G>C
c.3255G>C (p.Gly1085=)
c.2235G>C (p.Gly745=)
c.2955G>C (p.Gly985=)
c.3105G>C (p.Gly1035=)
c.3078G>C (p.Gly1026=)
ClinVar
7g.150946952C>TCA458644704KCNH2n.4088G>A
c.3255G>A (p.Gly1085=)
c.2235G>A (p.Gly745=)
c.2955G>A (p.Gly985=)
c.3105G>A (p.Gly1035=)
c.3078G>A (p.Gly1026=)
ClinVar dbSNP gnomAD v4
7g.150946955dupCA2499218780KCNH2n.4088dup
c.3255dup (p.Pro1086AlafsTer?)
c.2235dup (p.Pro746AlafsTer?)
c.2955dup (p.Pro986AlafsTer?)
c.3105dup (p.Pro1036AlafsTer?)
c.3078dup (p.Pro1027AlafsTer?)
ClinVar dbSNP
7g.150946955delCA16618396KCNH2n.4088del
c.3255del (p.Pro1086LeufsTer?)
c.2235del (p.Pro746LeufsTer?)
c.2955del (p.Pro986LeufsTer?)
c.3105del (p.Pro1036LeufsTer?)
c.3078del (p.Pro1027LeufsTer?)
ClinVar dbSNP gnomAD v4
7g.150946954_150946955delCA2695208691KCNH2n.4087_4088del
c.3254_3255del (p.Gly1085AlafsTer?)
c.2234_2235del (p.Gly745AlafsTer?)
c.2954_2955del (p.Gly985AlafsTer?)
c.3104_3105del (p.Gly1035AlafsTer?)
c.3077_3078del (p.Gly1026AlafsTer?)
7g.150946953C>ACA369852098KCNH2n.4087G>T
c.3254G>T (p.Gly1085Val)
c.2234G>T (p.Gly745Val)
c.2954G>T (p.Gly985Val)
c.3104G>T (p.Gly1035Val)
c.3077G>T (p.Gly1026Val)
7g.150946953C>GCA369852099KCNH2n.4087G>C
c.3254G>C (p.Gly1085Ala)
c.2234G>C (p.Gly745Ala)
c.2954G>C (p.Gly985Ala)
c.3104G>C (p.Gly1035Ala)
c.3077G>C (p.Gly1026Ala)
7g.150946953C>TCA369852100KCNH2n.4087G>A
c.3254G>A (p.Gly1085Glu)
c.2234G>A (p.Gly745Glu)
c.2954G>A (p.Gly985Glu)
c.3104G>A (p.Gly1035Glu)
c.3077G>A (p.Gly1026Glu)
gnomAD v4
7g.150946954C>ACA369852102KCNH2n.4086G>T
c.3253G>T (p.Gly1085Trp)
c.2233G>T (p.Gly745Trp)
c.2953G>T (p.Gly985Trp)
c.3103G>T (p.Gly1035Trp)
c.3076G>T (p.Gly1026Trp)
7g.150946954C>GCA369852103KCNH2n.4086G>C
c.3253G>C (p.Gly1085Arg)
c.2233G>C (p.Gly745Arg)
c.2953G>C (p.Gly985Arg)
c.3103G>C (p.Gly1035Arg)
c.3076G>C (p.Gly1026Arg)
ClinVar
7g.150946954C>TCA369852101KCNH2n.4086G>A
c.3253G>A (p.Gly1085Arg)
c.2233G>A (p.Gly745Arg)
c.2953G>A (p.Gly985Arg)
c.3103G>A (p.Gly1035Arg)
c.3076G>A (p.Gly1026Arg)
7g.150946955C>ACA169071278KCNH2n.4085G>T
c.3252G>T (p.Pro1084=)
c.2232G>T (p.Pro744=)
c.2952G>T (p.Pro984=)
c.3102G>T (p.Pro1034=)
c.3075G>T (p.Pro1025=)
dbSNP
7g.150946955C=CA1752427571KCNH2n.4085G=
c.3252G= (p.Pro1084=)
c.2232G= (p.Pro744=)
c.2952G= (p.Pro984=)
c.3102G= (p.Pro1034=)
c.3075G= (p.Pro1025=)
7g.150946955C>GCA458644705KCNH2n.4085G>C
c.3252G>C (p.Pro1084=)
c.2232G>C (p.Pro744=)
c.2952G>C (p.Pro984=)
c.3102G>C (p.Pro1034=)
c.3075G>C (p.Pro1025=)
7g.150946955C>TCA038138KCNH2n.4085G>A
c.3252G>A (p.Pro1084=)
c.2232G>A (p.Pro744=)
c.2952G>A (p.Pro984=)
c.3102G>A (p.Pro1034=)
c.3075G>A (p.Pro1025=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946956G>ACA038119KCNH2n.4084C>T
c.3251C>T (p.Pro1084Leu)
c.2231C>T (p.Pro744Leu)
c.2951C>T (p.Pro984Leu)
c.3101C>T (p.Pro1034Leu)
c.3074C>T (p.Pro1025Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946956G>CCA038100KCNH2n.4084C>G
c.3251C>G (p.Pro1084Arg)
c.2231C>G (p.Pro744Arg)
c.2951C>G (p.Pro984Arg)
c.3101C>G (p.Pro1034Arg)
c.3074C>G (p.Pro1025Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946956G=CA1752427578KCNH2n.4084C=
c.3251C= (p.Pro1084=)
c.2231C= (p.Pro744=)
c.2951C= (p.Pro984=)
c.3101C= (p.Pro1034=)
c.3074C= (p.Pro1025=)
7g.150946956G>TCA369852104KCNH2n.4084C>A
c.3251C>A (p.Pro1084Gln)
c.2231C>A (p.Pro744Gln)
c.2951C>A (p.Pro984Gln)
c.3101C>A (p.Pro1034Gln)
c.3074C>A (p.Pro1025Gln)
7g.150946959dupCA305339KCNH2n.4084dup
c.3251dup (p.Pro1086AlafsTer?)
c.2231dup (p.Pro746AlafsTer?)
c.2951dup (p.Pro986AlafsTer?)
c.3101dup (p.Pro1036AlafsTer?)
c.3074dup (p.Pro1027AlafsTer?)
ClinVar dbSNP
7g.150946959delCA2685600756KCNH2n.4084del
c.3251del (p.Pro1084ArgfsTer?)
c.2231del (p.Pro744ArgfsTer?)
c.2951del (p.Pro984ArgfsTer?)
c.3101del (p.Pro1034ArgfsTer?)
c.3074del (p.Pro1025ArgfsTer?)
gnomAD v4
7g.150946956_150946962dupCA2580077686KCNH2n.4078_4084dup
c.3245_3251dup (p.Gly1085HisfsTer?)
c.2225_2231dup (p.Gly745HisfsTer?)
c.2945_2951dup (p.Gly985HisfsTer?)
c.3095_3101dup (p.Gly1035HisfsTer?)
c.3068_3074dup (p.Gly1026HisfsTer?)
ClinVar
7g.150946957G>ACA369852107KCNH2n.4083C>T
c.3250C>T (p.Pro1084Ser)
c.2230C>T (p.Pro744Ser)
c.2950C>T (p.Pro984Ser)
c.3100C>T (p.Pro1034Ser)
c.3073C>T (p.Pro1025Ser)
7g.150946957G>CCA369852105KCNH2n.4083C>G
c.3250C>G (p.Pro1084Ala)
c.2230C>G (p.Pro744Ala)
c.2950C>G (p.Pro984Ala)
c.3100C>G (p.Pro1034Ala)
c.3073C>G (p.Pro1025Ala)
7g.150946957G>TCA369852106KCNH2n.4083C>A
c.3250C>A (p.Pro1084Thr)
c.2230C>A (p.Pro744Thr)
c.2950C>A (p.Pro984Thr)
c.3100C>A (p.Pro1034Thr)
c.3073C>A (p.Pro1025Thr)
COSMIC COSMIC

Number of alleles fetched