Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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
7g.150946958G>ACA458644707KCNH2n.4082C>T
c.3249C>T (p.Thr1083=)
c.2229C>T (p.Thr743=)
c.2949C>T (p.Thr983=)
c.3099C>T (p.Thr1033=)
c.3072C>T (p.Thr1024=)
 gnomAD v4
7g.150946958G>CCA458644708KCNH2n.4082C>G
c.3249C>G (p.Thr1083=)
c.2229C>G (p.Thr743=)
c.2949C>G (p.Thr983=)
c.3099C>G (p.Thr1033=)
c.3072C>G (p.Thr1024=)
7g.150946958G>TCA458644709KCNH2n.4082C>A
c.3249C>A (p.Thr1083=)
c.2229C>A (p.Thr743=)
c.2949C>A (p.Thr983=)
c.3099C>A (p.Thr1033=)
c.3072C>A (p.Thr1024=)
7g.150946959G>ACA369852108KCNH2n.4081C>T
c.3248C>T (p.Thr1083Ile)
c.2228C>T (p.Thr743Ile)
c.2948C>T (p.Thr983Ile)
c.3098C>T (p.Thr1033Ile)
c.3071C>T (p.Thr1024Ile)
 ClinVar
7g.150946959G>CCA369852109KCNH2n.4081C>G
c.3248C>G (p.Thr1083Ser)
c.2228C>G (p.Thr743Ser)
c.2948C>G (p.Thr983Ser)
c.3098C>G (p.Thr1033Ser)
c.3071C>G (p.Thr1024Ser)
7g.150946959G>TCA369852110KCNH2n.4081C>A
c.3248C>A (p.Thr1083Asn)
c.2228C>A (p.Thr743Asn)
c.2948C>A (p.Thr983Asn)
c.3098C>A (p.Thr1033Asn)
c.3071C>A (p.Thr1024Asn)
 gnomAD v4
7g.150946960T>ACA369852112KCNH2n.4080A>T
c.3247A>T (p.Thr1083Ser)
c.2227A>T (p.Thr743Ser)
c.2947A>T (p.Thr983Ser)
c.3097A>T (p.Thr1033Ser)
c.3070A>T (p.Thr1024Ser)
7g.150946960T>CCA008140KCNH2n.4080A>G
c.3247A>G (p.Thr1083Ala)
c.2227A>G (p.Thr743Ala)
c.2947A>G (p.Thr983Ala)
c.3097A>G (p.Thr1033Ala)
c.3070A>G (p.Thr1024Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946960T>GCA369852113KCNH2n.4080A>C
c.3247A>C (p.Thr1083Pro)
c.2227A>C (p.Thr743Pro)
c.2947A>C (p.Thr983Pro)
c.3097A>C (p.Thr1033Pro)
c.3070A>C (p.Thr1024Pro)
7g.150946960T=CA1752427585KCNH2n.4080A=
c.3247A= (p.Thr1083=)
c.2227A= (p.Thr743=)
c.2947A= (p.Thr983=)
c.3097A= (p.Thr1033=)
c.3070A= (p.Thr1024=)
7g.150946961G>ACA458644710KCNH2n.4079C>T
c.3246C>T (p.Thr1082=)
c.2226C>T (p.Thr742=)
c.2946C>T (p.Thr982=)
c.3096C>T (p.Thr1032=)
c.3069C>T (p.Thr1023=)
7g.150946961G>CCA458644712KCNH2n.4079C>G
c.3246C>G (p.Thr1082=)
c.2226C>G (p.Thr742=)
c.2946C>G (p.Thr982=)
c.3096C>G (p.Thr1032=)
c.3069C>G (p.Thr1023=)
7g.150946961G>TCA458644711KCNH2n.4079C>A
c.3246C>A (p.Thr1082=)
c.2226C>A (p.Thr742=)
c.2946C>A (p.Thr982=)
c.3096C>A (p.Thr1032=)
c.3069C>A (p.Thr1023=)
 ClinVar dbSNP
7g.150946962G>ACA369852114KCNH2n.4078C>T
c.3245C>T (p.Thr1082Ile)
c.2225C>T (p.Thr742Ile)
c.2945C>T (p.Thr982Ile)
c.3095C>T (p.Thr1032Ile)
c.3068C>T (p.Thr1023Ile)
7g.150946962G>CCA369852116KCNH2n.4078C>G
c.3245C>G (p.Thr1082Ser)
c.2225C>G (p.Thr742Ser)
c.2945C>G (p.Thr982Ser)
c.3095C>G (p.Thr1032Ser)
c.3068C>G (p.Thr1023Ser)
 dbSNP
7g.150946962G=CA1752427592KCNH2n.4078C=
c.3245C= (p.Thr1082=)
c.2225C= (p.Thr742=)
c.2945C= (p.Thr982=)
c.3095C= (p.Thr1032=)
c.3068C= (p.Thr1023=)
7g.150946962G>TCA369852115KCNH2n.4078C>A
c.3245C>A (p.Thr1082Asn)
c.2225C>A (p.Thr742Asn)
c.2945C>A (p.Thr982Asn)
c.3095C>A (p.Thr1032Asn)
c.3068C>A (p.Thr1023Asn)
7g.150946963T>ACA369852117KCNH2n.4077A>T
c.3244A>T (p.Thr1082Ser)
c.2224A>T (p.Thr742Ser)
c.2944A>T (p.Thr982Ser)
c.3094A>T (p.Thr1032Ser)
c.3067A>T (p.Thr1023Ser)
7g.150946963T>CCA369852119KCNH2n.4077A>G
c.3244A>G (p.Thr1082Ala)
c.2224A>G (p.Thr742Ala)
c.2944A>G (p.Thr982Ala)
c.3094A>G (p.Thr1032Ala)
c.3067A>G (p.Thr1023Ala)
7g.150946963T>GCA369852121KCNH2n.4077A>C
c.3244A>C (p.Thr1082Pro)
c.2224A>C (p.Thr742Pro)
c.2944A>C (p.Thr982Pro)
c.3094A>C (p.Thr1032Pro)
c.3067A>C (p.Thr1023Pro)
7g.150946964C>ACA458644713KCNH2n.4076G>T
c.3243G>T (p.Val1081=)
c.2223G>T (p.Val741=)
c.2943G>T (p.Val981=)
c.3093G>T (p.Val1031=)
c.3066G>T (p.Val1022=)
7g.150946964C>GCA458644714KCNH2n.4076G>C
c.3243G>C (p.Val1081=)
c.2223G>C (p.Val741=)
c.2943G>C (p.Val981=)
c.3093G>C (p.Val1031=)
c.3066G>C (p.Val1022=)
7g.150946964C>TCA458644715KCNH2n.4076G>A
c.3243G>A (p.Val1081=)
c.2223G>A (p.Val741=)
c.2943G>A (p.Val981=)
c.3093G>A (p.Val1031=)
c.3066G>A (p.Val1022=)
7g.150946965A>CCA369852123KCNH2n.4075T>G
c.3242T>G (p.Val1081Gly)
c.2222T>G (p.Val741Gly)
c.2942T>G (p.Val981Gly)
c.3092T>G (p.Val1031Gly)
c.3065T>G (p.Val1022Gly)
7g.150946965A>GCA369852124KCNH2n.4075T>C
c.3242T>C (p.Val1081Ala)
c.2222T>C (p.Val741Ala)
c.2942T>C (p.Val981Ala)
c.3092T>C (p.Val1031Ala)
c.3065T>C (p.Val1022Ala)
7g.150946965A>TCA369852125KCNH2n.4075T>A
c.3242T>A (p.Val1081Glu)
c.2222T>A (p.Val741Glu)
c.2942T>A (p.Val981Glu)
c.3092T>A (p.Val1031Glu)
c.3065T>A (p.Val1022Glu)
7g.150946966C>ACA369852128KCNH2n.4074G>T
c.3241G>T (p.Val1081Leu)
c.2221G>T (p.Val741Leu)
c.2941G>T (p.Val981Leu)
c.3091G>T (p.Val1031Leu)
c.3064G>T (p.Val1022Leu)
7g.150946966C=CA1752427596KCNH2n.4074G=
c.3241G= (p.Val1081=)
c.2221G= (p.Val741=)
c.2941G= (p.Val981=)
c.3091G= (p.Val1031=)
c.3064G= (p.Val1022=)
7g.150946966C>GCA369852129KCNH2n.4074G>C
c.3241G>C (p.Val1081Leu)
c.2221G>C (p.Val741Leu)
c.2941G>C (p.Val981Leu)
c.3091G>C (p.Val1031Leu)
c.3064G>C (p.Val1022Leu)
7g.150946966C>TCA369852131KCNH2n.4074G>A
c.3241G>A (p.Val1081Met)
c.2221G>A (p.Val741Met)
c.2941G>A (p.Val981Met)
c.3091G>A (p.Val1031Met)
c.3064G>A (p.Val1022Met)
 dbSNP gnomAD v2
7g.150946967A=CA1752427601KCNH2n.4073T=
c.3240T= (p.Ala1080=)
c.2220T= (p.Ala740=)
c.2940T= (p.Ala980=)
c.3090T= (p.Ala1030=)
c.3063T= (p.Ala1021=)
7g.150946967A>CCA458644716KCNH2n.4073T>G
c.3240T>G (p.Ala1080=)
c.2220T>G (p.Ala740=)
c.2940T>G (p.Ala980=)
c.3090T>G (p.Ala1030=)
c.3063T>G (p.Ala1021=)
7g.150946967A>GCA458644717KCNH2n.4073T>C
c.3240T>C (p.Ala1080=)
c.2220T>C (p.Ala740=)
c.2940T>C (p.Ala980=)
c.3090T>C (p.Ala1030=)
c.3063T>C (p.Ala1021=)
 dbSNP gnomAD v4
7g.150946967A>TCA458644718KCNH2n.4073T>A
c.3240T>A (p.Ala1080=)
c.2220T>A (p.Ala740=)
c.2940T>A (p.Ala980=)
c.3090T>A (p.Ala1030=)
c.3063T>A (p.Ala1021=)
7g.150946968G>ACA369852132KCNH2n.4072C>T
c.3239C>T (p.Ala1080Val)
c.2219C>T (p.Ala740Val)
c.2939C>T (p.Ala980Val)
c.3089C>T (p.Ala1030Val)
c.3062C>T (p.Ala1021Val)
 gnomAD v4
7g.150946968G>CCA369852134KCNH2n.4072C>G
c.3239C>G (p.Ala1080Gly)
c.2219C>G (p.Ala740Gly)
c.2939C>G (p.Ala980Gly)
c.3089C>G (p.Ala1030Gly)
c.3062C>G (p.Ala1021Gly)
7g.150946968G>TCA369852136KCNH2n.4072C>A
c.3239C>A (p.Ala1080Asp)
c.2219C>A (p.Ala740Asp)
c.2939C>A (p.Ala980Asp)
c.3089C>A (p.Ala1030Asp)
c.3062C>A (p.Ala1021Asp)
7g.150946969C>ACA369852137KCNH2n.4071G>T
c.3238G>T (p.Ala1080Ser)
c.2218G>T (p.Ala740Ser)
c.2938G>T (p.Ala980Ser)
c.3088G>T (p.Ala1030Ser)
c.3061G>T (p.Ala1021Ser)
7g.150946969C>GCA369852140KCNH2n.4071G>C
c.3238G>C (p.Ala1080Pro)
c.2218G>C (p.Ala740Pro)
c.2938G>C (p.Ala980Pro)
c.3088G>C (p.Ala1030Pro)
c.3061G>C (p.Ala1021Pro)
7g.150946969C>TCA369852138KCNH2n.4071G>A
c.3238G>A (p.Ala1080Thr)
c.2218G>A (p.Ala740Thr)
c.2938G>A (p.Ala980Thr)
c.3088G>A (p.Ala1030Thr)
c.3061G>A (p.Ala1021Thr)
7g.150946970A=CA1752427607KCNH2n.4070T=
c.3237T= (p.Ser1079=)
c.2217T= (p.Ser739=)
c.2937T= (p.Ser979=)
c.3087T= (p.Ser1029=)
c.3060T= (p.Ser1020=)
7g.150946970A>CCA369852142KCNH2n.4070T>G
c.3237T>G (p.Ser1079Arg)
c.2217T>G (p.Ser739Arg)
c.2937T>G (p.Ser979Arg)
c.3087T>G (p.Ser1029Arg)
c.3060T>G (p.Ser1020Arg)
7g.150946970A>GCA038077KCNH2n.4070T>C
c.3237T>C (p.Ser1079=)
c.2217T>C (p.Ser739=)
c.2937T>C (p.Ser979=)
c.3087T>C (p.Ser1029=)
c.3060T>C (p.Ser1020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946970A>TCA369852144KCNH2n.4070T>A
c.3237T>A (p.Ser1079Arg)
c.2217T>A (p.Ser739Arg)
c.2937T>A (p.Ser979Arg)
c.3087T>A (p.Ser1029Arg)
c.3060T>A (p.Ser1020Arg)
7g.150946971C>ACA369852146KCNH2n.4069G>T
c.3236G>T (p.Ser1079Ile)
c.2216G>T (p.Ser739Ile)
c.2936G>T (p.Ser979Ile)
c.3086G>T (p.Ser1029Ile)
c.3059G>T (p.Ser1020Ile)
7g.150946971C=CA1752427611KCNH2n.4069G=
c.3236G= (p.Ser1079=)
c.2216G= (p.Ser739=)
c.2936G= (p.Ser979=)
c.3086G= (p.Ser1029=)
c.3059G= (p.Ser1020=)
7g.150946971C>GCA369852147KCNH2n.4069G>C
c.3236G>C (p.Ser1079Thr)
c.2216G>C (p.Ser739Thr)
c.2936G>C (p.Ser979Thr)
c.3086G>C (p.Ser1029Thr)
c.3059G>C (p.Ser1020Thr)
7g.150946971C>TCA038062KCNH2n.4069G>A
c.3236G>A (p.Ser1079Asn)
c.2216G>A (p.Ser739Asn)
c.2936G>A (p.Ser979Asn)
c.3086G>A (p.Ser1029Asn)
c.3059G>A (p.Ser1020Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946972T>ACA369852150KCNH2n.4068A>T
c.3235A>T (p.Ser1079Cys)
c.2215A>T (p.Ser739Cys)
c.2935A>T (p.Ser979Cys)
c.3085A>T (p.Ser1029Cys)
c.3058A>T (p.Ser1020Cys)
7g.150946972T>CCA369852151KCNH2n.4068A>G
c.3235A>G (p.Ser1079Gly)
c.2215A>G (p.Ser739Gly)
c.2935A>G (p.Ser979Gly)
c.3085A>G (p.Ser1029Gly)
c.3058A>G (p.Ser1020Gly)
 gnomAD v4
7g.150946972T>GCA369852153KCNH2n.4068A>C
c.3235A>C (p.Ser1079Arg)
c.2215A>C (p.Ser739Arg)
c.2935A>C (p.Ser979Arg)
c.3085A>C (p.Ser1029Arg)
c.3058A>C (p.Ser1020Arg)
7g.150946973delCA2695208692KCNH2n.4067del
c.3234del (p.Tyr1078Ter)
c.2214del (p.Tyr738Ter)
c.2934del (p.Tyr978Ter)
c.3084del (p.Tyr1028Ter)
c.3057del (p.Tyr1019Ter)
7g.150946973G>ACA038047KCNH2n.4067C>T
c.3234C>T (p.Tyr1078=)
c.2214C>T (p.Tyr738=)
c.2934C>T (p.Tyr978=)
c.3084C>T (p.Tyr1028=)
c.3057C>T (p.Tyr1019=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946973G>CCA369852155KCNH2n.4067C>G
c.3234C>G (p.Tyr1078Ter)
c.2214C>G (p.Tyr738Ter)
c.2934C>G (p.Tyr978Ter)
c.3084C>G (p.Tyr1028Ter)
c.3057C>G (p.Tyr1019Ter)
7g.150946973G=CA1752427613KCNH2n.4067C=
c.3234C= (p.Tyr1078=)
c.2214C= (p.Tyr738=)
c.2934C= (p.Tyr978=)
c.3084C= (p.Tyr1028=)
c.3057C= (p.Tyr1019=)
7g.150946973G>TCA369852156KCNH2n.4067C>A
c.3234C>A (p.Tyr1078Ter)
c.2214C>A (p.Tyr738Ter)
c.2934C>A (p.Tyr978Ter)
c.3084C>A (p.Tyr1028Ter)
c.3057C>A (p.Tyr1019Ter)
7g.150946974T>ACA369852158KCNH2n.4066A>T
c.3233A>T (p.Tyr1078Phe)
c.2213A>T (p.Tyr738Phe)
c.2933A>T (p.Tyr978Phe)
c.3083A>T (p.Tyr1028Phe)
c.3056A>T (p.Tyr1019Phe)
7g.150946974T>CCA008132KCNH2n.4066A>G
c.3233A>G (p.Tyr1078Cys)
c.2213A>G (p.Tyr738Cys)
c.2933A>G (p.Tyr978Cys)
c.3083A>G (p.Tyr1028Cys)
c.3056A>G (p.Tyr1019Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946974T>GCA369852157KCNH2n.4066A>C
c.3233A>C (p.Tyr1078Ser)
c.2213A>C (p.Tyr738Ser)
c.2933A>C (p.Tyr978Ser)
c.3083A>C (p.Tyr1028Ser)
c.3056A>C (p.Tyr1019Ser)
7g.150946974T=CA1752427619KCNH2n.4066A=
c.3233A= (p.Tyr1078=)
c.2213A= (p.Tyr738=)
c.2933A= (p.Tyr978=)
c.3083A= (p.Tyr1028=)
c.3056A= (p.Tyr1019=)
7g.150946975A>CCA369852161KCNH2n.4065T>G
c.3232T>G (p.Tyr1078Asp)
c.2212T>G (p.Tyr738Asp)
c.2932T>G (p.Tyr978Asp)
c.3082T>G (p.Tyr1028Asp)
c.3055T>G (p.Tyr1019Asp)
7g.150946975A>GCA369852162KCNH2n.4065T>C
c.3232T>C (p.Tyr1078His)
c.2212T>C (p.Tyr738His)
c.2932T>C (p.Tyr978His)
c.3082T>C (p.Tyr1028His)
c.3055T>C (p.Tyr1019His)
7g.150946975A>TCA369852164KCNH2n.4065T>A
c.3232T>A (p.Tyr1078Asn)
c.2212T>A (p.Tyr738Asn)
c.2932T>A (p.Tyr978Asn)
c.3082T>A (p.Tyr1028Asn)
c.3055T>A (p.Tyr1019Asn)
7g.150946975_150946982delinsAGGCGGGCCA1752427623KCNH2n.4058_4065delinsGCCCGCCT
c.3225_3232delinsGCCCGCCT (p.Pro1075=)
c.2205_2212delinsGCCCGCCT (p.Pro735=)
c.2925_2932delinsGCCCGCCT (p.Pro975=)
c.3075_3082delinsGCCCGCCT (p.Pro1025=)
c.3048_3055delinsGCCCGCCT (p.Pro1016=)
7g.150946976G>ACA038040KCNH2n.4064C>T
c.3231C>T (p.Ala1077=)
c.2211C>T (p.Ala737=)
c.2931C>T (p.Ala977=)
c.3081C>T (p.Ala1027=)
c.3054C>T (p.Ala1018=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946976G>CCA458644719KCNH2n.4064C>G
c.3231C>G (p.Ala1077=)
c.2211C>G (p.Ala737=)
c.2931C>G (p.Ala977=)
c.3081C>G (p.Ala1027=)
c.3054C>G (p.Ala1018=)
7g.150946976G=CA1752427630KCNH2n.4064C=
c.3231C= (p.Ala1077=)
c.2211C= (p.Ala737=)
c.2931C= (p.Ala977=)
c.3081C= (p.Ala1027=)
c.3054C= (p.Ala1018=)
7g.150946976G>TCA458644720KCNH2n.4064C>A
c.3231C>A (p.Ala1077=)
c.2211C>A (p.Ala737=)
c.2931C>A (p.Ala977=)
c.3081C>A (p.Ala1027=)
c.3054C>A (p.Ala1018=)
7g.150946978_150946984delCA915945564KCNH2n.4058_4064del
c.3225_3231del (p.Pro1076ThrfsTer4)
c.2205_2211del (p.Pro736ThrfsTer4)
c.2925_2931del (p.Pro976ThrfsTer4)
c.3075_3081del (p.Pro1026ThrfsTer4)
c.3048_3054del (p.Pro1017ThrfsTer4)
 ClinVar dbSNP
7g.150946977G>ACA369852168KCNH2n.4063C>T
c.3230C>T (p.Ala1077Val)
c.2210C>T (p.Ala737Val)
c.2930C>T (p.Ala977Val)
c.3080C>T (p.Ala1027Val)
c.3053C>T (p.Ala1018Val)
 gnomAD v4
7g.150946977G>CCA369852167KCNH2n.4063C>G
c.3230C>G (p.Ala1077Gly)
c.2210C>G (p.Ala737Gly)
c.2930C>G (p.Ala977Gly)
c.3080C>G (p.Ala1027Gly)
c.3053C>G (p.Ala1018Gly)
7g.150946977G=CA1752427636KCNH2n.4063C=
c.3230C= (p.Ala1077=)
c.2210C= (p.Ala737=)
c.2930C= (p.Ala977=)
c.3080C= (p.Ala1027=)
c.3053C= (p.Ala1018=)
7g.150946977G>TCA038021KCNH2n.4063C>A
c.3230C>A (p.Ala1077Asp)
c.2210C>A (p.Ala737Asp)
c.2930C>A (p.Ala977Asp)
c.3080C>A (p.Ala1027Asp)
c.3053C>A (p.Ala1018Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150946977_150946987delinsGCGGGCGGGACCA1752427639KCNH2n.4053_4063delinsGTCCCGCCCGC
c.3220_3230delinsGTCCCGCCCGC (p.Val1074=)
c.2200_2210delinsGTCCCGCCCGC (p.Val734=)
c.2920_2930delinsGTCCCGCCCGC (p.Val974=)
c.3070_3080delinsGTCCCGCCCGC (p.Val1024=)
c.3043_3053delinsGTCCCGCCCGC (p.Val1015=)
7g.150946978C>ACA369852169KCNH2n.4062G>T
c.3229G>T (p.Ala1077Ser)
c.2209G>T (p.Ala737Ser)
c.2929G>T (p.Ala977Ser)
c.3079G>T (p.Ala1027Ser)
c.3052G>T (p.Ala1018Ser)
 gnomAD v4
7g.150946978C=CA1752427647KCNH2n.4062G=
c.3229G= (p.Ala1077=)
c.2209G= (p.Ala737=)
c.2929G= (p.Ala977=)
c.3079G= (p.Ala1027=)
c.3052G= (p.Ala1018=)
7g.150946978C>GCA369852171KCNH2n.4062G>C
c.3229G>C (p.Ala1077Pro)
c.2209G>C (p.Ala737Pro)
c.2929G>C (p.Ala977Pro)
c.3079G>C (p.Ala1027Pro)
c.3052G>C (p.Ala1018Pro)
7g.150946978C>TCA038009KCNH2n.4062G>A
c.3229G>A (p.Ala1077Thr)
c.2209G>A (p.Ala737Thr)
c.2929G>A (p.Ala977Thr)
c.3079G>A (p.Ala1027Thr)
c.3052G>A (p.Ala1018Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.150946979_150946988delCA1752427646KCNH2n.4053_4062del
c.3220_3229del (p.Val1074ProfsTer5)
c.2200_2209del (p.Val734ProfsTer5)
c.2920_2929del (p.Val974ProfsTer5)
c.3070_3079del (p.Val1024ProfsTer5)
c.3043_3052del (p.Val1015ProfsTer5)
 dbSNP
7g.150946979G>ACA037985KCNH2n.4061C>T
c.3228C>T (p.Pro1076=)
c.2208C>T (p.Pro736=)
c.2928C>T (p.Pro976=)
c.3078C>T (p.Pro1026=)
c.3051C>T (p.Pro1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.150946979G>CCA458644721KCNH2n.4061C>G
c.3228C>G (p.Pro1076=)
c.2208C>G (p.Pro736=)
c.2928C>G (p.Pro976=)
c.3078C>G (p.Pro1026=)
c.3051C>G (p.Pro1017=)
7g.150946979G=CA1752427651KCNH2n.4061C=
c.3228C= (p.Pro1076=)
c.2208C= (p.Pro736=)
c.2928C= (p.Pro976=)
c.3078C= (p.Pro1026=)
c.3051C= (p.Pro1017=)
7g.150946979G>TCA458644722KCNH2n.4061C>A
c.3228C>A (p.Pro1076=)
c.2208C>A (p.Pro736=)
c.2928C>A (p.Pro976=)
c.3078C>A (p.Pro1026=)
c.3051C>A (p.Pro1017=)
 ClinVar
7g.150946981delCA2579062556KCNH2n.4061del
c.3228del (p.Ala1077ProfsTer5)
c.2208del (p.Ala737ProfsTer5)
c.2928del (p.Ala977ProfsTer5)
c.3078del (p.Ala1027ProfsTer5)
c.3051del (p.Ala1018ProfsTer5)
7g.150946980G>ACA369852174KCNH2n.4060C>T
c.3227C>T (p.Pro1076Leu)
c.2207C>T (p.Pro736Leu)
c.2927C>T (p.Pro976Leu)
c.3077C>T (p.Pro1026Leu)
c.3050C>T (p.Pro1017Leu)
7g.150946980G>CCA369852175KCNH2n.4060C>G
c.3227C>G (p.Pro1076Arg)
c.2207C>G (p.Pro736Arg)
c.2927C>G (p.Pro976Arg)
c.3077C>G (p.Pro1026Arg)
c.3050C>G (p.Pro1017Arg)
7g.150946980G>TCA369852177KCNH2n.4060C>A
c.3227C>A (p.Pro1076His)
c.2207C>A (p.Pro736His)
c.2927C>A (p.Pro976His)
c.3077C>A (p.Pro1026His)
c.3050C>A (p.Pro1017His)
 dbSNP
7g.150946981G>ACA369852182KCNH2n.4059C>T
c.3226C>T (p.Pro1076Ser)
c.2206C>T (p.Pro736Ser)
c.2926C>T (p.Pro976Ser)
c.3076C>T (p.Pro1026Ser)
c.3049C>T (p.Pro1017Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.150946981G>CCA369852181KCNH2n.4059C>G
c.3226C>G (p.Pro1076Ala)
c.2206C>G (p.Pro736Ala)
c.2926C>G (p.Pro976Ala)
c.3076C>G (p.Pro1026Ala)
c.3049C>G (p.Pro1017Ala)
7g.150946981G=CA1752427658KCNH2n.4059C=
c.3226C= (p.Pro1076=)
c.2206C= (p.Pro736=)
c.2926C= (p.Pro976=)
c.3076C= (p.Pro1026=)
c.3049C= (p.Pro1017=)
7g.150946981G>TCA369852179KCNH2n.4059C>A
c.3226C>A (p.Pro1076Thr)
c.2206C>A (p.Pro736Thr)
c.2926C>A (p.Pro976Thr)
c.3076C>A (p.Pro1026Thr)
c.3049C>A (p.Pro1017Thr)
7g.150946982C>ACA037960KCNH2n.4058G>T
c.3225G>T (p.Pro1075=)
c.2205G>T (p.Pro735=)
c.2925G>T (p.Pro975=)
c.3075G>T (p.Pro1025=)
c.3048G>T (p.Pro1016=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946982C=CA1752427667KCNH2n.4058G=
c.3225G= (p.Pro1075=)
c.2205G= (p.Pro735=)
c.2925G= (p.Pro975=)
c.3075G= (p.Pro1025=)
c.3048G= (p.Pro1016=)
7g.150946982C>GCA458644723KCNH2n.4058G>C
c.3225G>C (p.Pro1075=)
c.2205G>C (p.Pro735=)
c.2925G>C (p.Pro975=)
c.3075G>C (p.Pro1025=)
c.3048G>C (p.Pro1016=)
7g.150946982C>TCA169071357KCNH2n.4058G>A
c.3225G>A (p.Pro1075=)
c.2205G>A (p.Pro735=)
c.2925G>A (p.Pro975=)
c.3075G>A (p.Pro1025=)
c.3048G>A (p.Pro1016=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946983G>ACA008118KCNH2n.4057C>T
c.3224C>T (p.Pro1075Leu)
c.2204C>T (p.Pro735Leu)
c.2924C>T (p.Pro975Leu)
c.3074C>T (p.Pro1025Leu)
c.3047C>T (p.Pro1016Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946983G>CCA369852186KCNH2n.4057C>G
c.3224C>G (p.Pro1075Arg)
c.2204C>G (p.Pro735Arg)
c.2924C>G (p.Pro975Arg)
c.3074C>G (p.Pro1025Arg)
c.3047C>G (p.Pro1016Arg)
7g.150946983G=CA1752427675KCNH2n.4057C=
c.3224C= (p.Pro1075=)
c.2204C= (p.Pro735=)
c.2924C= (p.Pro975=)
c.3074C= (p.Pro1025=)
c.3047C= (p.Pro1016=)
7g.150946983G>TCA369852187KCNH2n.4057C>A
c.3224C>A (p.Pro1075Gln)
c.2204C>A (p.Pro735Gln)
c.2924C>A (p.Pro975Gln)
c.3074C>A (p.Pro1025Gln)
c.3047C>A (p.Pro1016Gln)
 ClinVar dbSNP
7g.150946984G>ACA369852190KCNH2n.4056C>T
c.3223C>T (p.Pro1075Ser)
c.2203C>T (p.Pro735Ser)
c.2923C>T (p.Pro975Ser)
c.3073C>T (p.Pro1025Ser)
c.3046C>T (p.Pro1016Ser)
 gnomAD v4 COSMIC
7g.150946984G>CCA369852193KCNH2n.4056C>G
c.3223C>G (p.Pro1075Ala)
c.2203C>G (p.Pro735Ala)
c.2923C>G (p.Pro975Ala)
c.3073C>G (p.Pro1025Ala)
c.3046C>G (p.Pro1016Ala)
7g.150946984G>TCA369852191KCNH2n.4056C>A
c.3223C>A (p.Pro1075Thr)
c.2203C>A (p.Pro735Thr)
c.2923C>A (p.Pro975Thr)
c.3073C>A (p.Pro1025Thr)
c.3046C>A (p.Pro1016Thr)
7g.150946985G>ACA458644724KCNH2n.4055C>T
c.3222C>T (p.Val1074=)
c.2202C>T (p.Val734=)
c.2922C>T (p.Val974=)
c.3072C>T (p.Val1024=)
c.3045C>T (p.Val1015=)
 ClinVar dbSNP
7g.150946985G>CCA458644725KCNH2n.4055C>G
c.3222C>G (p.Val1074=)
c.2202C>G (p.Val734=)
c.2922C>G (p.Val974=)
c.3072C>G (p.Val1024=)
c.3045C>G (p.Val1015=)
7g.150946985G>TCA458644726KCNH2n.4055C>A
c.3222C>A (p.Val1074=)
c.2202C>A (p.Val734=)
c.2922C>A (p.Val974=)
c.3072C>A (p.Val1024=)
c.3045C>A (p.Val1015=)
7g.150946986delCA2695208693KCNH2n.4054del
c.3221del (p.Val1074AlafsTer8)
c.2201del (p.Val734AlafsTer8)
c.2921del (p.Val974AlafsTer8)
c.3071del (p.Val1024AlafsTer8)
c.3044del (p.Val1015AlafsTer8)
7g.150946986A=CA1752427681KCNH2n.4054T=
c.3221T= (p.Val1074=)
c.2201T= (p.Val734=)
c.2921T= (p.Val974=)
c.3071T= (p.Val1024=)
c.3044T= (p.Val1015=)
7g.150946986A>CCA369852195KCNH2n.4054T>G
c.3221T>G (p.Val1074Gly)
c.2201T>G (p.Val734Gly)
c.2921T>G (p.Val974Gly)
c.3071T>G (p.Val1024Gly)
c.3044T>G (p.Val1015Gly)
 dbSNP
7g.150946986A>GCA369852196KCNH2n.4054T>C
c.3221T>C (p.Val1074Ala)
c.2201T>C (p.Val734Ala)
c.2921T>C (p.Val974Ala)
c.3071T>C (p.Val1024Ala)
c.3044T>C (p.Val1015Ala)
7g.150946986A>TCA369852198KCNH2n.4054T>A
c.3221T>A (p.Val1074Asp)
c.2201T>A (p.Val734Asp)
c.2921T>A (p.Val974Asp)
c.3071T>A (p.Val1024Asp)
c.3044T>A (p.Val1015Asp)
7g.150946987C>ACA369852199KCNH2n.4053G>T
c.3220G>T (p.Val1074Phe)
c.2200G>T (p.Val734Phe)
c.2920G>T (p.Val974Phe)
c.3070G>T (p.Val1024Phe)
c.3043G>T (p.Val1015Phe)
7g.150946987C>GCA369852201KCNH2n.4053G>C
c.3220G>C (p.Val1074Leu)
c.2200G>C (p.Val734Leu)
c.2920G>C (p.Val974Leu)
c.3070G>C (p.Val1024Leu)
c.3043G>C (p.Val1015Leu)
7g.150946987C>TCA369852203KCNH2n.4053G>A
c.3220G>A (p.Val1074Ile)
c.2200G>A (p.Val734Ile)
c.2920G>A (p.Val974Ile)
c.3070G>A (p.Val1024Ile)
c.3043G>A (p.Val1015Ile)
7g.150946988C>ACA458644727KCNH2n.4052G>T
c.3219G>T (p.Leu1073=)
c.2199G>T (p.Leu733=)
c.2919G>T (p.Leu973=)
c.3069G>T (p.Leu1023=)
c.3042G>T (p.Leu1014=)
7g.150946988C>GCA458644728KCNH2n.4052G>C
c.3219G>C (p.Leu1073=)
c.2199G>C (p.Leu733=)
c.2919G>C (p.Leu973=)
c.3069G>C (p.Leu1023=)
c.3042G>C (p.Leu1014=)
7g.150946988C>TCA458644729KCNH2n.4052G>A
c.3219G>A (p.Leu1073=)
c.2199G>A (p.Leu733=)
c.2919G>A (p.Leu973=)
c.3069G>A (p.Leu1023=)
c.3042G>A (p.Leu1014=)
 ClinVar
7g.150946989A=CA1752427686KCNH2n.4051T=
c.3218T= (p.Leu1073=)
c.2198T= (p.Leu733=)
c.2918T= (p.Leu973=)
c.3068T= (p.Leu1023=)
c.3041T= (p.Leu1014=)
7g.150946989A>CCA169071383KCNH2n.4051T>G
c.3218T>G (p.Leu1073Arg)
c.2198T>G (p.Leu733Arg)
c.2918T>G (p.Leu973Arg)
c.3068T>G (p.Leu1023Arg)
c.3041T>G (p.Leu1014Arg)
 dbSNP gnomAD v4
7g.150946989A>GCA369852205KCNH2n.4051T>C
c.3218T>C (p.Leu1073Pro)
c.2198T>C (p.Leu733Pro)
c.2918T>C (p.Leu973Pro)
c.3068T>C (p.Leu1023Pro)
c.3041T>C (p.Leu1014Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.150946989A>TCA369852207KCNH2n.4051T>A
c.3218T>A (p.Leu1073Gln)
c.2198T>A (p.Leu733Gln)
c.2918T>A (p.Leu973Gln)
c.3068T>A (p.Leu1023Gln)
c.3041T>A (p.Leu1014Gln)
 dbSNP
7g.150946990G>ACA458644730KCNH2n.4050C>T
c.3217C>T (p.Leu1073=)
c.2197C>T (p.Leu733=)
c.2917C>T (p.Leu973=)
c.3067C>T (p.Leu1023=)
c.3040C>T (p.Leu1014=)
 dbSNP
7g.150946990G>CCA369852209KCNH2n.4050C>G
c.3217C>G (p.Leu1073Val)
c.2197C>G (p.Leu733Val)
c.2917C>G (p.Leu973Val)
c.3067C>G (p.Leu1023Val)
c.3040C>G (p.Leu1014Val)
7g.150946990G=CA1752427689KCNH2n.4050C=
c.3217C= (p.Leu1073=)
c.2197C= (p.Leu733=)
c.2917C= (p.Leu973=)
c.3067C= (p.Leu1023=)
c.3040C= (p.Leu1014=)
7g.150946990G>TCA369852211KCNH2n.4050C>A
c.3217C>A (p.Leu1073Met)
c.2197C>A (p.Leu733Met)
c.2917C>A (p.Leu973Met)
c.3067C>A (p.Leu1023Met)
c.3040C>A (p.Leu1014Met)
7g.150946991C>ACA458644731KCNH2n.4049G>T
c.3216G>T (p.Thr1072=)
c.2196G>T (p.Thr732=)
c.2916G>T (p.Thr972=)
c.3066G>T (p.Thr1022=)
c.3039G>T (p.Thr1013=)
 gnomAD v4
7g.150946991C=CA1752427696KCNH2n.4049G=
c.3216G= (p.Thr1072=)
c.2196G= (p.Thr732=)
c.2916G= (p.Thr972=)
c.3066G= (p.Thr1022=)
c.3039G= (p.Thr1013=)
7g.150946991C>GCA458644732KCNH2n.4049G>C
c.3216G>C (p.Thr1072=)
c.2196G>C (p.Thr732=)
c.2916G>C (p.Thr972=)
c.3066G>C (p.Thr1022=)
c.3039G>C (p.Thr1013=)
7g.150946991C>TCA037927KCNH2n.4049G>A
c.3216G>A (p.Thr1072=)
c.2196G>A (p.Thr732=)
c.2916G>A (p.Thr972=)
c.3066G>A (p.Thr1022=)
c.3039G>A (p.Thr1013=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946992G>ACA037913KCNH2n.4048C>T
c.3215C>T (p.Thr1072Met)
c.2195C>T (p.Thr732Met)
c.2915C>T (p.Thr972Met)
c.3065C>T (p.Thr1022Met)
c.3038C>T (p.Thr1013Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946992G>CCA369852216KCNH2n.4048C>G
c.3215C>G (p.Thr1072Arg)
c.2195C>G (p.Thr732Arg)
c.2915C>G (p.Thr972Arg)
c.3065C>G (p.Thr1022Arg)
c.3038C>G (p.Thr1013Arg)
 gnomAD v4
7g.150946992G=CA1752427700KCNH2n.4048C=
c.3215C= (p.Thr1072=)
c.2195C= (p.Thr732=)
c.2915C= (p.Thr972=)
c.3065C= (p.Thr1022=)
c.3038C= (p.Thr1013=)
7g.150946992G>TCA369852214KCNH2n.4048C>A
c.3215C>A (p.Thr1072Lys)
c.2195C>A (p.Thr732Lys)
c.2915C>A (p.Thr972Lys)
c.3065C>A (p.Thr1022Lys)
c.3038C>A (p.Thr1013Lys)
7g.150946993T>ACA369852217KCNH2n.4047A>T
c.3214A>T (p.Thr1072Ser)
c.2194A>T (p.Thr732Ser)
c.2914A>T (p.Thr972Ser)
c.3064A>T (p.Thr1022Ser)
c.3037A>T (p.Thr1013Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.150946993T>CCA369852219KCNH2n.4047A>G
c.3214A>G (p.Thr1072Ala)
c.2194A>G (p.Thr732Ala)
c.2914A>G (p.Thr972Ala)
c.3064A>G (p.Thr1022Ala)
c.3037A>G (p.Thr1013Ala)
7g.150946993T>GCA369852221KCNH2n.4047A>C
c.3214A>C (p.Thr1072Pro)
c.2194A>C (p.Thr732Pro)
c.2914A>C (p.Thr972Pro)
c.3064A>C (p.Thr1022Pro)
c.3037A>C (p.Thr1013Pro)
7g.150946993T=CA1752427702KCNH2n.4047A=
c.3214A= (p.Thr1072=)
c.2194A= (p.Thr732=)
c.2914A= (p.Thr972=)
c.3064A= (p.Thr1022=)
c.3037A= (p.Thr1013=)
7g.150946994C>ACA369852222KCNH2n.4046G>T
c.3213G>T (p.Met1071Ile)
c.2193G>T (p.Met731Ile)
c.2913G>T (p.Met971Ile)
c.3063G>T (p.Met1021Ile)
c.3036G>T (p.Met1012Ile)
7g.150946994C>GCA369852224KCNH2n.4046G>C
c.3213G>C (p.Met1071Ile)
c.2193G>C (p.Met731Ile)
c.2913G>C (p.Met971Ile)
c.3063G>C (p.Met1021Ile)
c.3036G>C (p.Met1012Ile)
7g.150946994C>TCA369852225KCNH2n.4046G>A
c.3213G>A (p.Met1071Ile)
c.2193G>A (p.Met731Ile)
c.2913G>A (p.Met971Ile)
c.3063G>A (p.Met1021Ile)
c.3036G>A (p.Met1012Ile)
7g.150946995A=CA1752427705KCNH2n.4045T=
c.3212T= (p.Met1071=)
c.2192T= (p.Met731=)
c.2912T= (p.Met971=)
c.3062T= (p.Met1021=)
c.3035T= (p.Met1012=)
7g.150946995A>CCA369852227KCNH2n.4045T>G
c.3212T>G (p.Met1071Arg)
c.2192T>G (p.Met731Arg)
c.2912T>G (p.Met971Arg)
c.3062T>G (p.Met1021Arg)
c.3035T>G (p.Met1012Arg)
 gnomAD v4
7g.150946995A>GCA369852228KCNH2n.4045T>C
c.3212T>C (p.Met1071Thr)
c.2192T>C (p.Met731Thr)
c.2912T>C (p.Met971Thr)
c.3062T>C (p.Met1021Thr)
c.3035T>C (p.Met1012Thr)
7g.150946995A>TCA369852229KCNH2n.4045T>A
c.3212T>A (p.Met1071Lys)
c.2192T>A (p.Met731Lys)
c.2912T>A (p.Met971Lys)
c.3062T>A (p.Met1021Lys)
c.3035T>A (p.Met1012Lys)
7g.150946996T>ACA369852231KCNH2n.4044A>T
c.3211A>T (p.Met1071Leu)
c.2191A>T (p.Met731Leu)
c.2911A>T (p.Met971Leu)
c.3061A>T (p.Met1021Leu)
c.3034A>T (p.Met1012Leu)
7g.150946996T>CCA037892KCNH2n.4044A>G
c.3211A>G (p.Met1071Val)
c.2191A>G (p.Met731Val)
c.2911A>G (p.Met971Val)
c.3061A>G (p.Met1021Val)
c.3034A>G (p.Met1012Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946996T>GCA369852230KCNH2n.4044A>C
c.3211A>C (p.Met1071Leu)
c.2191A>C (p.Met731Leu)
c.2911A>C (p.Met971Leu)
c.3061A>C (p.Met1021Leu)
c.3034A>C (p.Met1012Leu)
7g.150946996T=CA1752427709KCNH2n.4044A=
c.3211A= (p.Met1071=)
c.2191A= (p.Met731=)
c.2911A= (p.Met971=)
c.3061A= (p.Met1021=)
c.3034A= (p.Met1012=)
7g.150947000_150947005dupCA835220684KCNH2n.4039_4044dup
c.3206_3211dup (p.Gln1070_Met1071insArgGln)
c.2186_2191dup (p.Gln730_Met731insArgGln)
c.2906_2911dup (p.Gln970_Met971insArgGln)
c.3056_3061dup (p.Gln1020_Met1021insArgGln)
c.3029_3034dup (p.Gln1011_Met1012insArgGln)
 dbSNP gnomAD v3 gnomAD v4
7g.150946997C>ACA369852233KCNH2n.4043G>T
c.3210G>T (p.Gln1070His)
c.2190G>T (p.Gln730His)
c.2910G>T (p.Gln970His)
c.3060G>T (p.Gln1020His)
c.3033G>T (p.Gln1011His)
 dbSNP
7g.150946997C>GCA369852234KCNH2n.4043G>C
c.3210G>C (p.Gln1070His)
c.2190G>C (p.Gln730His)
c.2910G>C (p.Gln970His)
c.3060G>C (p.Gln1020His)
c.3033G>C (p.Gln1011His)
7g.150946997C>TCA458644733KCNH2n.4043G>A
c.3210G>A (p.Gln1070=)
c.2190G>A (p.Gln730=)
c.2910G>A (p.Gln970=)
c.3060G>A (p.Gln1020=)
c.3033G>A (p.Gln1011=)
 gnomAD v4
7g.150946998T>ACA369852236KCNH2n.4042A>T
c.3209A>T (p.Gln1070Leu)
c.2189A>T (p.Gln730Leu)
c.2909A>T (p.Gln970Leu)
c.3059A>T (p.Gln1020Leu)
c.3032A>T (p.Gln1011Leu)
 ClinVar dbSNP
7g.150946998T>CCA369852237KCNH2n.4042A>G
c.3209A>G (p.Gln1070Arg)
c.2189A>G (p.Gln730Arg)
c.2909A>G (p.Gln970Arg)
c.3059A>G (p.Gln1020Arg)
c.3032A>G (p.Gln1011Arg)
7g.150946998T>GCA369852238KCNH2n.4042A>C
c.3209A>C (p.Gln1070Pro)
c.2189A>C (p.Gln730Pro)
c.2909A>C (p.Gln970Pro)
c.3059A>C (p.Gln1020Pro)
c.3032A>C (p.Gln1011Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.150946998T=CA1752427714KCNH2n.4042A=
c.3209A= (p.Gln1070=)
c.2189A= (p.Gln730=)
c.2909A= (p.Gln970=)
c.3059A= (p.Gln1020=)
c.3032A= (p.Gln1011=)
7g.150946999G>ACA369852240KCNH2n.4041C>T
c.3208C>T (p.Gln1070Ter)
c.2188C>T (p.Gln730Ter)
c.2908C>T (p.Gln970Ter)
c.3058C>T (p.Gln1020Ter)
c.3031C>T (p.Gln1011Ter)
 ClinVar
7g.150946999G>CCA369852242KCNH2n.4041C>G
c.3208C>G (p.Gln1070Glu)
c.2188C>G (p.Gln730Glu)
c.2908C>G (p.Gln970Glu)
c.3058C>G (p.Gln1020Glu)
c.3031C>G (p.Gln1011Glu)
7g.150946999G>TCA369852244KCNH2n.4041C>A
c.3208C>A (p.Gln1070Lys)
c.2188C>A (p.Gln730Lys)
c.2908C>A (p.Gln970Lys)
c.3058C>A (p.Gln1020Lys)
c.3031C>A (p.Gln1011Lys)
7g.150947000C>ACA037881KCNH2n.4040G>T
c.3207G>T (p.Arg1069Ser)
c.2187G>T (p.Arg729Ser)
c.2907G>T (p.Arg969Ser)
c.3057G>T (p.Arg1019Ser)
c.3030G>T (p.Arg1010Ser)
 dbSNP ExAC gnomAD v2
7g.150947000C=CA1752427719KCNH2n.4040G=
c.3207G= (p.Arg1069=)
c.2187G= (p.Arg729=)
c.2907G= (p.Arg969=)
c.3057G= (p.Arg1019=)
c.3030G= (p.Arg1010=)
7g.150947000C>GCA369852246KCNH2n.4040G>C
c.3207G>C (p.Arg1069Ser)
c.2187G>C (p.Arg729Ser)
c.2907G>C (p.Arg969Ser)
c.3057G>C (p.Arg1019Ser)
c.3030G>C (p.Arg1010Ser)
7g.150947000C>TCA458644734KCNH2n.4040G>A
c.3207G>A (p.Arg1069=)
c.2187G>A (p.Arg729=)
c.2907G>A (p.Arg969=)
c.3057G>A (p.Arg1019=)
c.3030G>A (p.Arg1010=)
 ClinVar
7g.150947001C>ACA369852248KCNH2n.4039G>T
c.3206G>T (p.Arg1069Met)
c.2186G>T (p.Arg729Met)
c.2906G>T (p.Arg969Met)
c.3056G>T (p.Arg1019Met)
c.3029G>T (p.Arg1010Met)
7g.150947001C>GCA369852249KCNH2n.4039G>C
c.3206G>C (p.Arg1069Thr)
c.2186G>C (p.Arg729Thr)
c.2906G>C (p.Arg969Thr)
c.3056G>C (p.Arg1019Thr)
c.3029G>C (p.Arg1010Thr)
7g.150947001C>TCA369852251KCNH2n.4039G>A
c.3206G>A (p.Arg1069Lys)
c.2186G>A (p.Arg729Lys)
c.2906G>A (p.Arg969Lys)
c.3056G>A (p.Arg1019Lys)
c.3029G>A (p.Arg1010Lys)
 ClinVar dbSNP
7g.150947002T>ACA369852255KCNH2n.4038A>T
c.3205A>T (p.Arg1069Trp)
c.2185A>T (p.Arg729Trp)
c.2905A>T (p.Arg969Trp)
c.3055A>T (p.Arg1019Trp)
c.3028A>T (p.Arg1010Trp)
 ClinVar dbSNP
7g.150947002T>CCA369852253KCNH2n.4038A>G
c.3205A>G (p.Arg1069Gly)
c.2185A>G (p.Arg729Gly)
c.2905A>G (p.Arg969Gly)
c.3055A>G (p.Arg1019Gly)
c.3028A>G (p.Arg1010Gly)
7g.150947002T>GCA458644735KCNH2n.4038A>C
c.3205A>C (p.Arg1069=)
c.2185A>C (p.Arg729=)
c.2905A>C (p.Arg969=)
c.3055A>C (p.Arg1019=)
c.3028A>C (p.Arg1010=)
7g.150947003C>ACA369852256KCNH2n.4037G>T
c.3204G>T (p.Gln1068His)
c.2184G>T (p.Gln728His)
c.2904G>T (p.Gln968His)
c.3054G>T (p.Gln1018His)
c.3027G>T (p.Gln1009His)
7g.150947003C>GCA369852257KCNH2n.4037G>C
c.3204G>C (p.Gln1068His)
c.2184G>C (p.Gln728His)
c.2904G>C (p.Gln968His)
c.3054G>C (p.Gln1018His)
c.3027G>C (p.Gln1009His)
7g.150947003C>TCA458644736KCNH2n.4037G>A
c.3204G>A (p.Gln1068=)
c.2184G>A (p.Gln728=)
c.2904G>A (p.Gln968=)
c.3054G>A (p.Gln1018=)
c.3027G>A (p.Gln1009=)
7g.150947004T>ACA369852260KCNH2n.4036A>T
c.3203A>T (p.Gln1068Leu)
c.2183A>T (p.Gln728Leu)
c.2903A>T (p.Gln968Leu)
c.3053A>T (p.Gln1018Leu)
c.3026A>T (p.Gln1009Leu)
 COSMIC
7g.150947004T>CCA008110KCNH2n.4036A>G
c.3203A>G (p.Gln1068Arg)
c.2183A>G (p.Gln728Arg)
c.2903A>G (p.Gln968Arg)
c.3053A>G (p.Gln1018Arg)
c.3026A>G (p.Gln1009Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947004T>GCA369852262KCNH2n.4036A>C
c.3203A>C (p.Gln1068Pro)
c.2183A>C (p.Gln728Pro)
c.2903A>C (p.Gln968Pro)
c.3053A>C (p.Gln1018Pro)
c.3026A>C (p.Gln1009Pro)
7g.150947004T=CA1752427725KCNH2n.4036A=
c.3203A= (p.Gln1068=)
c.2183A= (p.Gln728=)
c.2903A= (p.Gln968=)
c.3053A= (p.Gln1018=)
c.3026A= (p.Gln1009=)
7g.150947005_150947006delCA2695208694KCNH2n.4035_4036del
c.3202_3203del (p.Gln1068GlufsTer?)
c.2182_2183del (p.Gln728GlufsTer?)
c.2902_2903del (p.Gln968GlufsTer?)
c.3052_3053del (p.Gln1018GlufsTer?)
c.3025_3026del (p.Gln1009GlufsTer?)
7g.150947005G>ACA369852264KCNH2n.4035C>T
c.3202C>T (p.Gln1068Ter)
c.2182C>T (p.Gln728Ter)
c.2902C>T (p.Gln968Ter)
c.3052C>T (p.Gln1018Ter)
c.3025C>T (p.Gln1009Ter)
 ClinVar dbSNP
7g.150947005G>CCA369852265KCNH2n.4035C>G
c.3202C>G (p.Gln1068Glu)
c.2182C>G (p.Gln728Glu)
c.2902C>G (p.Gln968Glu)
c.3052C>G (p.Gln1018Glu)
c.3025C>G (p.Gln1009Glu)
7g.150947005G=CA1752427731KCNH2n.4035C=
c.3202C= (p.Gln1068=)
c.2182C= (p.Gln728=)
c.2902C= (p.Gln968=)
c.3052C= (p.Gln1018=)
c.3025C= (p.Gln1009=)
7g.150947005G>TCA369852267KCNH2n.4035C>A
c.3202C>A (p.Gln1068Lys)
c.2182C>A (p.Gln728Lys)
c.2902C>A (p.Gln968Lys)
c.3052C>A (p.Gln1018Lys)
c.3025C>A (p.Gln1009Lys)
7g.150947006T>ACA458644739KCNH2n.4034A>T
c.3201A>T (p.Leu1067=)
c.2181A>T (p.Leu727=)
c.2901A>T (p.Leu967=)
c.3051A>T (p.Leu1017=)
c.3024A>T (p.Leu1008=)
7g.150947006T>CCA458644738KCNH2n.4034A>G
c.3201A>G (p.Leu1067=)
c.2181A>G (p.Leu727=)
c.2901A>G (p.Leu967=)
c.3051A>G (p.Leu1017=)
c.3024A>G (p.Leu1008=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947006T>GCA458644737KCNH2n.4034A>C
c.3201A>C (p.Leu1067=)
c.2181A>C (p.Leu727=)
c.2901A>C (p.Leu967=)
c.3051A>C (p.Leu1017=)
c.3024A>C (p.Leu1008=)
7g.150947006T=CA1752427734KCNH2n.4034A=
c.3201A= (p.Leu1067=)
c.2181A= (p.Leu727=)
c.2901A= (p.Leu967=)
c.3051A= (p.Leu1017=)
c.3024A= (p.Leu1008=)
7g.150947007A>CCA369852268KCNH2n.4033T>G
c.3200T>G (p.Leu1067Arg)
c.2180T>G (p.Leu727Arg)
c.2900T>G (p.Leu967Arg)
c.3050T>G (p.Leu1017Arg)
c.3023T>G (p.Leu1008Arg)
7g.150947007A>GCA369852270KCNH2n.4033T>C
c.3200T>C (p.Leu1067Pro)
c.2180T>C (p.Leu727Pro)
c.2900T>C (p.Leu967Pro)
c.3050T>C (p.Leu1017Pro)
c.3023T>C (p.Leu1008Pro)
7g.150947007A>TCA369852271KCNH2n.4033T>A
c.3200T>A (p.Leu1067Gln)
c.2180T>A (p.Leu727Gln)
c.2900T>A (p.Leu967Gln)
c.3050T>A (p.Leu1017Gln)
c.3023T>A (p.Leu1008Gln)
7g.150947007dupCA16042588KCNH2n.4033dup
c.3200dup (p.Gln1068ThrfsTer?)
c.2180dup (p.Gln728ThrfsTer?)
c.2900dup (p.Gln968ThrfsTer?)
c.3050dup (p.Gln1018ThrfsTer?)
c.3023dup (p.Gln1009ThrfsTer?)
 ClinVar dbSNP
7g.150947008G>ACA458644740KCNH2n.4032C>T
c.3199C>T (p.Leu1067=)
c.2179C>T (p.Leu727=)
c.2899C>T (p.Leu967=)
c.3049C>T (p.Leu1017=)
c.3022C>T (p.Leu1008=)
7g.150947008G>CCA369852272KCNH2n.4032C>G
c.3199C>G (p.Leu1067Val)
c.2179C>G (p.Leu727Val)
c.2899C>G (p.Leu967Val)
c.3049C>G (p.Leu1017Val)
c.3022C>G (p.Leu1008Val)
7g.150947008G>TCA369852273KCNH2n.4032C>A
c.3199C>A (p.Leu1067Ile)
c.2179C>A (p.Leu727Ile)
c.2899C>A (p.Leu967Ile)
c.3049C>A (p.Leu1017Ile)
c.3022C>A (p.Leu1008Ile)
7g.150947009_150947018delCA2695208695KCNH2n.4023_4032del
c.3190_3199del (p.Leu1064TyrfsTer5)
c.2170_2179del (p.Leu724TyrfsTer5)
c.2890_2899del (p.Leu964TyrfsTer5)
c.3040_3049del (p.Leu1014TyrfsTer5)
c.3013_3022del (p.Leu1005TyrfsTer5)
7g.150947009C>ACA458644741KCNH2n.4031G>T
c.3198G>T (p.Leu1066=)
c.2178G>T (p.Leu726=)
c.2898G>T (p.Leu966=)
c.3048G>T (p.Leu1016=)
c.3021G>T (p.Leu1007=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947009C=CA1752427743KCNH2n.4031G=
c.3198G= (p.Leu1066=)
c.2178G= (p.Leu726=)
c.2898G= (p.Leu966=)
c.3048G= (p.Leu1016=)
c.3021G= (p.Leu1007=)
7g.150947009C>GCA458644743KCNH2n.4031G>C
c.3198G>C (p.Leu1066=)
c.2178G>C (p.Leu726=)
c.2898G>C (p.Leu966=)
c.3048G>C (p.Leu1016=)
c.3021G>C (p.Leu1007=)
7g.150947009C>TCA458644742KCNH2n.4031G>A
c.3198G>A (p.Leu1066=)
c.2178G>A (p.Leu726=)
c.2898G>A (p.Leu966=)
c.3048G>A (p.Leu1016=)
c.3021G>A (p.Leu1007=)
7g.150947010A>CCA369852278KCNH2n.4030T>G
c.3197T>G (p.Leu1066Arg)
c.2177T>G (p.Leu726Arg)
c.2897T>G (p.Leu966Arg)
c.3047T>G (p.Leu1016Arg)
c.3020T>G (p.Leu1007Arg)
7g.150947010A>GCA369852276KCNH2n.4030T>C
c.3197T>C (p.Leu1066Pro)
c.2177T>C (p.Leu726Pro)
c.2897T>C (p.Leu966Pro)
c.3047T>C (p.Leu1016Pro)
c.3020T>C (p.Leu1007Pro)
7g.150947010A>TCA369852274KCNH2n.4030T>A
c.3197T>A (p.Leu1066Gln)
c.2177T>A (p.Leu726Gln)
c.2897T>A (p.Leu966Gln)
c.3047T>A (p.Leu1016Gln)
c.3020T>A (p.Leu1007Gln)
7g.150947011G>ACA458644744KCNH2n.4029C>T
c.3196C>T (p.Leu1066=)
c.2176C>T (p.Leu726=)
c.2896C>T (p.Leu966=)
c.3046C>T (p.Leu1016=)
c.3019C>T (p.Leu1007=)
 ClinVar dbSNP
7g.150947011G>CCA008093KCNH2n.4029C>G
c.3196C>G (p.Leu1066Val)
c.2176C>G (p.Leu726Val)
c.2896C>G (p.Leu966Val)
c.3046C>G (p.Leu1016Val)
c.3019C>G (p.Leu1007Val)
 ClinVar dbSNP
7g.150947011G=CA1752427752KCNH2n.4029C=
c.3196C= (p.Leu1066=)
c.2176C= (p.Leu726=)
c.2896C= (p.Leu966=)
c.3046C= (p.Leu1016=)
c.3019C= (p.Leu1007=)
7g.150947011G>TCA369852280KCNH2n.4029C>A
c.3196C>A (p.Leu1066Met)
c.2176C>A (p.Leu726Met)
c.2896C>A (p.Leu966Met)
c.3046C>A (p.Leu1016Met)
c.3019C>A (p.Leu1007Met)
7g.150947012C>ACA369852282KCNH2n.4028G>T
c.3195G>T (p.Gln1065His)
c.2175G>T (p.Gln725His)
c.2895G>T (p.Gln965His)
c.3045G>T (p.Gln1015His)
c.3018G>T (p.Gln1006His)
7g.150947012C>GCA369852283KCNH2n.4028G>C
c.3195G>C (p.Gln1065His)
c.2175G>C (p.Gln725His)
c.2895G>C (p.Gln965His)
c.3045G>C (p.Gln1015His)
c.3018G>C (p.Gln1006His)
7g.150947012C>TCA458644745KCNH2n.4028G>A
c.3195G>A (p.Gln1065=)
c.2175G>A (p.Gln725=)
c.2895G>A (p.Gln965=)
c.3045G>A (p.Gln1015=)
c.3018G>A (p.Gln1006=)
7g.150947013T>ACA369852285KCNH2n.4027A>T
c.3194A>T (p.Gln1065Leu)
c.2174A>T (p.Gln725Leu)
c.2894A>T (p.Gln965Leu)
c.3044A>T (p.Gln1015Leu)
c.3017A>T (p.Gln1006Leu)
7g.150947013T>CCA369852286KCNH2n.4027A>G
c.3194A>G (p.Gln1065Arg)
c.2174A>G (p.Gln725Arg)
c.2894A>G (p.Gln965Arg)
c.3044A>G (p.Gln1015Arg)
c.3017A>G (p.Gln1006Arg)
 ClinVar
7g.150947013T>GCA369852288KCNH2n.4027A>C
c.3194A>C (p.Gln1065Pro)
c.2174A>C (p.Gln725Pro)
c.2894A>C (p.Gln965Pro)
c.3044A>C (p.Gln1015Pro)
c.3017A>C (p.Gln1006Pro)
7g.150947014G>ACA369852293KCNH2n.4026C>T
c.3193C>T (p.Gln1065Ter)
c.2173C>T (p.Gln725Ter)
c.2893C>T (p.Gln965Ter)
c.3043C>T (p.Gln1015Ter)
c.3016C>T (p.Gln1006Ter)
 ClinVar dbSNP
7g.150947014G>CCA369852292KCNH2n.4026C>G
c.3193C>G (p.Gln1065Glu)
c.2173C>G (p.Gln725Glu)
c.2893C>G (p.Gln965Glu)
c.3043C>G (p.Gln1015Glu)
c.3016C>G (p.Gln1006Glu)
7g.150947014G=CA1752427762KCNH2n.4026C=
c.3193C= (p.Gln1065=)
c.2173C= (p.Gln725=)
c.2893C= (p.Gln965=)
c.3043C= (p.Gln1015=)
c.3016C= (p.Gln1006=)
7g.150947014G>TCA369852290KCNH2n.4026C>A
c.3193C>A (p.Gln1065Lys)
c.2173C>A (p.Gln725Lys)
c.2893C>A (p.Gln965Lys)
c.3043C>A (p.Gln1015Lys)
c.3016C>A (p.Gln1006Lys)
7g.150947015C>ACA458644746KCNH2n.4025G>T
c.3192G>T (p.Leu1064=)
c.2172G>T (p.Leu724=)
c.2892G>T (p.Leu964=)
c.3042G>T (p.Leu1014=)
c.3015G>T (p.Leu1005=)
7g.150947015C>GCA458644747KCNH2n.4025G>C
c.3192G>C (p.Leu1064=)
c.2172G>C (p.Leu724=)
c.2892G>C (p.Leu964=)
c.3042G>C (p.Leu1014=)
c.3015G>C (p.Leu1005=)
7g.150947015C>TCA458644748KCNH2n.4025G>A
c.3192G>A (p.Leu1064=)
c.2172G>A (p.Leu724=)
c.2892G>A (p.Leu964=)
c.3042G>A (p.Leu1014=)
c.3015G>A (p.Leu1005=)
 gnomAD v4
7g.150947016A=CA1752427768KCNH2n.4024T=
c.3191T= (p.Leu1064=)
c.2171T= (p.Leu724=)
c.2891T= (p.Leu964=)
c.3041T= (p.Leu1014=)
c.3014T= (p.Leu1005=)
7g.150947016A>CCA369852295KCNH2n.4024T>G
c.3191T>G (p.Leu1064Arg)
c.2171T>G (p.Leu724Arg)
c.2891T>G (p.Leu964Arg)
c.3041T>G (p.Leu1014Arg)
c.3014T>G (p.Leu1005Arg)
 ClinVar dbSNP
7g.150947016A>GCA369852297KCNH2n.4024T>C
c.3191T>C (p.Leu1064Pro)
c.2171T>C (p.Leu724Pro)
c.2891T>C (p.Leu964Pro)
c.3041T>C (p.Leu1014Pro)
c.3014T>C (p.Leu1005Pro)
7g.150947016A>TCA369852298KCNH2n.4024T>A
c.3191T>A (p.Leu1064Gln)
c.2171T>A (p.Leu724Gln)
c.2891T>A (p.Leu964Gln)
c.3041T>A (p.Leu1014Gln)
c.3014T>A (p.Leu1005Gln)
7g.150947017G>ACA458644749KCNH2n.4023C>T
c.3190C>T (p.Leu1064=)
c.2170C>T (p.Leu724=)
c.2890C>T (p.Leu964=)
c.3040C>T (p.Leu1014=)
c.3013C>T (p.Leu1005=)
 dbSNP gnomAD v2
7g.150947017G>CCA369852300KCNH2n.4023C>G
c.3190C>G (p.Leu1064Val)
c.2170C>G (p.Leu724Val)
c.2890C>G (p.Leu964Val)
c.3040C>G (p.Leu1014Val)
c.3013C>G (p.Leu1005Val)
7g.150947017G=CA1752427774KCNH2n.4023C=
c.3190C= (p.Leu1064=)
c.2170C= (p.Leu724=)
c.2890C= (p.Leu964=)
c.3040C= (p.Leu1014=)
c.3013C= (p.Leu1005=)
7g.150947017G>TCA369852301KCNH2n.4023C>A
c.3190C>A (p.Leu1064Met)
c.2170C>A (p.Leu724Met)
c.2890C>A (p.Leu964Met)
c.3040C>A (p.Leu1014Met)
c.3013C>A (p.Leu1005Met)
7g.150947018G>ACA037824KCNH2n.4022C>T
c.3189C>T (p.Val1063=)
c.2169C>T (p.Val723=)
c.2889C>T (p.Val963=)
c.3039C>T (p.Val1013=)
c.3012C>T (p.Val1004=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947018G>CCA458644750KCNH2n.4022C>G
c.3189C>G (p.Val1063=)
c.2169C>G (p.Val723=)
c.2889C>G (p.Val963=)
c.3039C>G (p.Val1013=)
c.3012C>G (p.Val1004=)
7g.150947018G=CA1752427777KCNH2n.4022C=
c.3189C= (p.Val1063=)
c.2169C= (p.Val723=)
c.2889C= (p.Val963=)
c.3039C= (p.Val1013=)
c.3012C= (p.Val1004=)
7g.150947018G>TCA458644751KCNH2n.4022C>A
c.3189C>A (p.Val1063=)
c.2169C>A (p.Val723=)
c.2889C>A (p.Val963=)
c.3039C>A (p.Val1013=)
c.3012C>A (p.Val1004=)
7g.150947019A>CCA369852303KCNH2n.4021T>G
c.3188T>G (p.Val1063Gly)
c.2168T>G (p.Val723Gly)
c.2888T>G (p.Val963Gly)
c.3038T>G (p.Val1013Gly)
c.3011T>G (p.Val1004Gly)
7g.150947019A>GCA369852305KCNH2n.4021T>C
c.3188T>C (p.Val1063Ala)
c.2168T>C (p.Val723Ala)
c.2888T>C (p.Val963Ala)
c.3038T>C (p.Val1013Ala)
c.3011T>C (p.Val1004Ala)
7g.150947019A>TCA369852304KCNH2n.4021T>A
c.3188T>A (p.Val1063Asp)
c.2168T>A (p.Val723Asp)
c.2888T>A (p.Val963Asp)
c.3038T>A (p.Val1013Asp)
c.3011T>A (p.Val1004Asp)
7g.150947020C>ACA369852307KCNH2n.4020G>T
c.3187G>T (p.Val1063Phe)
c.2167G>T (p.Val723Phe)
c.2887G>T (p.Val963Phe)
c.3037G>T (p.Val1013Phe)
c.3010G>T (p.Val1004Phe)
7g.150947020C=CA1752427781KCNH2n.4020G=
c.3187G= (p.Val1063=)
c.2167G= (p.Val723=)
c.2887G= (p.Val963=)
c.3037G= (p.Val1013=)
c.3010G= (p.Val1004=)
7g.150947020C>GCA037808KCNH2n.4020G>C
c.3187G>C (p.Val1063Leu)
c.2167G>C (p.Val723Leu)
c.2887G>C (p.Val963Leu)
c.3037G>C (p.Val1013Leu)
c.3010G>C (p.Val1004Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947020C>TCA369852309KCNH2n.4020G>A
c.3187G>A (p.Val1063Ile)
c.2167G>A (p.Val723Ile)
c.2887G>A (p.Val963Ile)
c.3037G>A (p.Val1013Ile)
c.3010G>A (p.Val1004Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.150947021A=CA1752427789KCNH2n.4019T=
c.3186T= (p.Thr1062=)
c.2166T= (p.Thr722=)
c.2886T= (p.Thr962=)
c.3036T= (p.Thr1012=)
c.3009T= (p.Thr1003=)
7g.150947021A>CCA458644752KCNH2n.4019T>G
c.3186T>G (p.Thr1062=)
c.2166T>G (p.Thr722=)
c.2886T>G (p.Thr962=)
c.3036T>G (p.Thr1012=)
c.3009T>G (p.Thr1003=)
7g.150947021A>GCA037785KCNH2n.4019T>C
c.3186T>C (p.Thr1062=)
c.2166T>C (p.Thr722=)
c.2886T>C (p.Thr962=)
c.3036T>C (p.Thr1012=)
c.3009T>C (p.Thr1003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947021A>TCA458644753KCNH2n.4019T>A
c.3186T>A (p.Thr1062=)
c.2166T>A (p.Thr722=)
c.2886T>A (p.Thr962=)
c.3036T>A (p.Thr1012=)
c.3009T>A (p.Thr1003=)
 COSMIC COSMIC
7g.150947022G>ACA037772KCNH2n.4018C>T
c.3185C>T (p.Thr1062Ile)
c.2165C>T (p.Thr722Ile)
c.2885C>T (p.Thr962Ile)
c.3035C>T (p.Thr1012Ile)
c.3008C>T (p.Thr1003Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947022G>CCA369852311KCNH2n.4018C>G
c.3185C>G (p.Thr1062Ser)
c.2165C>G (p.Thr722Ser)
c.2885C>G (p.Thr962Ser)
c.3035C>G (p.Thr1012Ser)
c.3008C>G (p.Thr1003Ser)
7g.150947022G=CA1752427793KCNH2n.4018C=
c.3185C= (p.Thr1062=)
c.2165C= (p.Thr722=)
c.2885C= (p.Thr962=)
c.3035C= (p.Thr1012=)
c.3008C= (p.Thr1003=)
7g.150947022G>TCA369852313KCNH2n.4018C>A
c.3185C>A (p.Thr1062Asn)
c.2165C>A (p.Thr722Asn)
c.2885C>A (p.Thr962Asn)
c.3035C>A (p.Thr1012Asn)
c.3008C>A (p.Thr1003Asn)
7g.150947022_150947023insACA579075344KCNH2n.4017_4018insT
c.3184_3185insT (p.Thr1062IlefsTer?)
c.2164_2165insT (p.Thr722IlefsTer?)
c.2884_2885insT (p.Thr962IlefsTer?)
c.3034_3035insT (p.Thr1012IlefsTer?)
c.3007_3008insT (p.Thr1003IlefsTer?)
 dbSNP gnomAD v2 gnomAD v4
7g.150947023T>ACA369852314KCNH2n.4017A>T
c.3184A>T (p.Thr1062Ser)
c.2164A>T (p.Thr722Ser)
c.2884A>T (p.Thr962Ser)
c.3034A>T (p.Thr1012Ser)
c.3007A>T (p.Thr1003Ser)
7g.150947023T>CCA369852316KCNH2n.4017A>G
c.3184A>G (p.Thr1062Ala)
c.2164A>G (p.Thr722Ala)
c.2884A>G (p.Thr962Ala)
c.3034A>G (p.Thr1012Ala)
c.3007A>G (p.Thr1003Ala)
7g.150947023T>GCA369852318KCNH2n.4017A>C
c.3184A>C (p.Thr1062Pro)
c.2164A>C (p.Thr722Pro)
c.2884A>C (p.Thr962Pro)
c.3034A>C (p.Thr1012Pro)
c.3007A>C (p.Thr1003Pro)
 dbSNP gnomAD v2 gnomAD v4
7g.150947023T=CA1752427798KCNH2n.4017A=
c.3184A= (p.Thr1062=)
c.2164A= (p.Thr722=)
c.2884A= (p.Thr962=)
c.3034A= (p.Thr1012=)
c.3007A= (p.Thr1003=)
7g.150947024G>ACA458644754KCNH2n.4016C>T
c.3183C>T (p.Ala1061=)
c.2163C>T (p.Ala721=)
c.2883C>T (p.Ala961=)
c.3033C>T (p.Ala1011=)
c.3006C>T (p.Ala1002=)
7g.150947024G>CCA458644756KCNH2n.4016C>G
c.3183C>G (p.Ala1061=)
c.2163C>G (p.Ala721=)
c.2883C>G (p.Ala961=)
c.3033C>G (p.Ala1011=)
c.3006C>G (p.Ala1002=)
7g.150947024G>TCA458644755KCNH2n.4016C>A
c.3183C>A (p.Ala1061=)
c.2163C>A (p.Ala721=)
c.2883C>A (p.Ala961=)
c.3033C>A (p.Ala1011=)
c.3006C>A (p.Ala1002=)
7g.150947025G>ACA369852322KCNH2n.4015C>T
c.3182C>T (p.Ala1061Val)
c.2162C>T (p.Ala721Val)
c.2882C>T (p.Ala961Val)
c.3032C>T (p.Ala1011Val)
c.3005C>T (p.Ala1002Val)
 gnomAD v4
7g.150947025G>CCA369852321KCNH2n.4015C>G
c.3182C>G (p.Ala1061Gly)
c.2162C>G (p.Ala721Gly)
c.2882C>G (p.Ala961Gly)
c.3032C>G (p.Ala1011Gly)
c.3005C>G (p.Ala1002Gly)
7g.150947025G>TCA369852319KCNH2n.4015C>A
c.3182C>A (p.Ala1061Asp)
c.2162C>A (p.Ala721Asp)
c.2882C>A (p.Ala961Asp)
c.3032C>A (p.Ala1011Asp)
c.3005C>A (p.Ala1002Asp)
7g.150947026C>ACA369852324KCNH2n.4014G>T
c.3181G>T (p.Ala1061Ser)
c.2161G>T (p.Ala721Ser)
c.2881G>T (p.Ala961Ser)
c.3031G>T (p.Ala1011Ser)
c.3004G>T (p.Ala1002Ser)
 gnomAD v4
7g.150947026C>GCA369852325KCNH2n.4014G>C
c.3181G>C (p.Ala1061Pro)
c.2161G>C (p.Ala721Pro)
c.2881G>C (p.Ala961Pro)
c.3031G>C (p.Ala1011Pro)
c.3004G>C (p.Ala1002Pro)
7g.150947026C>TCA369852327KCNH2n.4014G>A
c.3181G>A (p.Ala1061Thr)
c.2161G>A (p.Ala721Thr)
c.2881G>A (p.Ala961Thr)
c.3031G>A (p.Ala1011Thr)
c.3004G>A (p.Ala1002Thr)
 gnomAD v4
7g.150947027C>ACA369852328KCNH2n.4013G>T
c.3180G>T (p.Met1060Ile)
c.2160G>T (p.Met720Ile)
c.2880G>T (p.Met960Ile)
c.3030G>T (p.Met1010Ile)
c.3003G>T (p.Met1001Ile)
 gnomAD v4
7g.150947027C=CA1752427801KCNH2n.4013G=
c.3180G= (p.Met1060=)
c.2160G= (p.Met720=)
c.2880G= (p.Met960=)
c.3030G= (p.Met1010=)
c.3003G= (p.Met1001=)
7g.150947027C>GCA369852330KCNH2n.4013G>C
c.3180G>C (p.Met1060Ile)
c.2160G>C (p.Met720Ile)
c.2880G>C (p.Met960Ile)
c.3030G>C (p.Met1010Ile)
c.3003G>C (p.Met1001Ile)
7g.150947027C>TCA369852332KCNH2n.4013G>A
c.3180G>A (p.Met1060Ile)
c.2160G>A (p.Met720Ile)
c.2880G>A (p.Met960Ile)
c.3030G>A (p.Met1010Ile)
c.3003G>A (p.Met1001Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.150947028A>CCA369852336KCNH2n.4012T>G
c.3179T>G (p.Met1060Arg)
c.2159T>G (p.Met720Arg)
c.2879T>G (p.Met960Arg)
c.3029T>G (p.Met1010Arg)
c.3002T>G (p.Met1001Arg)
7g.150947028A>GCA369852334KCNH2n.4012T>C
c.3179T>C (p.Met1060Thr)
c.2159T>C (p.Met720Thr)
c.2879T>C (p.Met960Thr)
c.3029T>C (p.Met1010Thr)
c.3002T>C (p.Met1001Thr)
7g.150947028A>TCA369852335KCNH2n.4012T>A
c.3179T>A (p.Met1060Lys)
c.2159T>A (p.Met720Lys)
c.2879T>A (p.Met960Lys)
c.3029T>A (p.Met1010Lys)
c.3002T>A (p.Met1001Lys)
7g.150947029T>ACA369852337KCNH2n.4011A>T
c.3178A>T (p.Met1060Leu)
c.2158A>T (p.Met720Leu)
c.2878A>T (p.Met960Leu)
c.3028A>T (p.Met1010Leu)
c.3001A>T (p.Met1001Leu)
7g.150947029T>CCA037756KCNH2n.4011A>G
c.3178A>G (p.Met1060Val)
c.2158A>G (p.Met720Val)
c.2878A>G (p.Met960Val)
c.3028A>G (p.Met1010Val)
c.3001A>G (p.Met1001Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947029T>GCA369852339KCNH2n.4011A>C
c.3178A>C (p.Met1060Leu)
c.2158A>C (p.Met720Leu)
c.2878A>C (p.Met960Leu)
c.3028A>C (p.Met1010Leu)
c.3001A>C (p.Met1001Leu)
7g.150947029T=CA1752427804KCNH2n.4011A=
c.3178A= (p.Met1060=)
c.2158A= (p.Met720=)
c.2878A= (p.Met960=)
c.3028A= (p.Met1010=)
c.3001A= (p.Met1001=)
7g.150947030G>ACA458644757KCNH2n.4010C>T
c.3177C>T (p.Asp1059=)
c.2157C>T (p.Asp719=)
c.2877C>T (p.Asp959=)
c.3027C>T (p.Asp1009=)
c.3000C>T (p.Asp1000=)
 dbSNP gnomAD v4
7g.150947030G>CCA037730KCNH2n.4010C>G
c.3177C>G (p.Asp1059Glu)
c.2157C>G (p.Asp719Glu)
c.2877C>G (p.Asp959Glu)
c.3027C>G (p.Asp1009Glu)
c.3000C>G (p.Asp1000Glu)
 dbSNP ExAC gnomAD v2
7g.150947030G=CA1752427810KCNH2n.4010C=
c.3177C= (p.Asp1059=)
c.2157C= (p.Asp719=)
c.2877C= (p.Asp959=)
c.3027C= (p.Asp1009=)
c.3000C= (p.Asp1000=)
7g.150947030G>TCA369852341KCNH2n.4010C>A
c.3177C>A (p.Asp1059Glu)
c.2157C>A (p.Asp719Glu)
c.2877C>A (p.Asp959Glu)
c.3027C>A (p.Asp1009Glu)
c.3000C>A (p.Asp1000Glu)
 gnomAD v4
7g.150947031T>ACA369852344KCNH2n.4009A>T
c.3176A>T (p.Asp1059Val)
c.2156A>T (p.Asp719Val)
c.2876A>T (p.Asp959Val)
c.3026A>T (p.Asp1009Val)
c.2999A>T (p.Asp1000Val)
7g.150947031T>CCA369852346KCNH2n.4009A>G
c.3176A>G (p.Asp1059Gly)
c.2156A>G (p.Asp719Gly)
c.2876A>G (p.Asp959Gly)
c.3026A>G (p.Asp1009Gly)
c.2999A>G (p.Asp1000Gly)
 dbSNP COSMIC COSMIC
7g.150947031T>GCA169071478KCNH2n.4009A>C
c.3176A>C (p.Asp1059Ala)
c.2156A>C (p.Asp719Ala)
c.2876A>C (p.Asp959Ala)
c.3026A>C (p.Asp1009Ala)
c.2999A>C (p.Asp1000Ala)
 dbSNP
7g.150947031T=CA1752427814KCNH2n.4009A=
c.3176A= (p.Asp1059=)
c.2156A= (p.Asp719=)
c.2876A= (p.Asp959=)
c.3026A= (p.Asp1009=)
c.2999A= (p.Asp1000=)
7g.150947032C>ACA369852347KCNH2n.4008G>T
c.3175G>T (p.Asp1059Tyr)
c.2155G>T (p.Asp719Tyr)
c.2875G>T (p.Asp959Tyr)
c.3025G>T (p.Asp1009Tyr)
c.2998G>T (p.Asp1000Tyr)
 gnomAD v4
7g.150947032C>GCA369852349KCNH2n.4008G>C
c.3175G>C (p.Asp1059His)
c.2155G>C (p.Asp719His)
c.2875G>C (p.Asp959His)
c.3025G>C (p.Asp1009His)
c.2998G>C (p.Asp1000His)
 gnomAD v4
7g.150947032C>TCA369852351KCNH2n.4008G>A
c.3175G>A (p.Asp1059Asn)
c.2155G>A (p.Asp719Asn)
c.2875G>A (p.Asp959Asn)
c.3025G>A (p.Asp1009Asn)
c.2998G>A (p.Asp1000Asn)
7g.150947033T>ACA458644758KCNH2n.4007A>T
c.3174A>T (p.Ala1058=)
c.2154A>T (p.Ala718=)
c.2874A>T (p.Ala958=)
c.3024A>T (p.Ala1008=)
c.2997A>T (p.Ala999=)
7g.150947033T>CCA458644759KCNH2n.4007A>G
c.3174A>G (p.Ala1058=)
c.2154A>G (p.Ala718=)
c.2874A>G (p.Ala958=)
c.3024A>G (p.Ala1008=)
c.2997A>G (p.Ala999=)
 gnomAD v4
7g.150947033T>GCA458644761KCNH2n.4007A>C
c.3174A>C (p.Ala1058=)
c.2154A>C (p.Ala718=)
c.2874A>C (p.Ala958=)
c.3024A>C (p.Ala1008=)
c.2997A>C (p.Ala999=)
7g.150947034G>ACA369852353KCNH2n.4006C>T
c.3173C>T (p.Ala1058Val)
c.2153C>T (p.Ala718Val)
c.2873C>T (p.Ala958Val)
c.3023C>T (p.Ala1008Val)
c.2996C>T (p.Ala999Val)
7g.150947034G>CCA369852355KCNH2n.4006C>G
c.3173C>G (p.Ala1058Gly)
c.2153C>G (p.Ala718Gly)
c.2873C>G (p.Ala958Gly)
c.3023C>G (p.Ala1008Gly)
c.2996C>G (p.Ala999Gly)
7g.150947034G=CA1752427822KCNH2n.4006C=
c.3173C= (p.Ala1058=)
c.2153C= (p.Ala718=)
c.2873C= (p.Ala958=)
c.3023C= (p.Ala1008=)
c.2996C= (p.Ala999=)
7g.150947034G>TCA008070KCNH2n.4006C>A
c.3173C>A (p.Ala1058Glu)
c.2153C>A (p.Ala718Glu)
c.2873C>A (p.Ala958Glu)
c.3023C>A (p.Ala1008Glu)
c.2996C>A (p.Ala999Glu)
 ClinVar dbSNP
7g.150947035C>ACA369852357KCNH2n.4005G>T
c.3172G>T (p.Ala1058Ser)
c.2152G>T (p.Ala718Ser)
c.2872G>T (p.Ala958Ser)
c.3022G>T (p.Ala1008Ser)
c.2995G>T (p.Ala999Ser)
 gnomAD v4
7g.150947035C=CA1752427830KCNH2n.4005G=
c.3172G= (p.Ala1058=)
c.2152G= (p.Ala718=)
c.2872G= (p.Ala958=)
c.3022G= (p.Ala1008=)
c.2995G= (p.Ala999=)
7g.150947035C>GCA369852359KCNH2n.4005G>C
c.3172G>C (p.Ala1058Pro)
c.2152G>C (p.Ala718Pro)
c.2872G>C (p.Ala958Pro)
c.3022G>C (p.Ala1008Pro)
c.2995G>C (p.Ala999Pro)
7g.150947035C>TCA037716KCNH2n.4005G>A
c.3172G>A (p.Ala1058Thr)
c.2152G>A (p.Ala718Thr)
c.2872G>A (p.Ala958Thr)
c.3022G>A (p.Ala1008Thr)
c.2995G>A (p.Ala999Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947035dupCA2580077689KCNH2n.4005dup
c.3172dup (p.Ala1058GlyfsTer?)
c.2152dup (p.Ala718GlyfsTer?)
c.2872dup (p.Ala958GlyfsTer?)
c.3022dup (p.Ala1008GlyfsTer?)
c.2995dup (p.Ala999GlyfsTer?)
 ClinVar
7g.150947036A=CA1752427837KCNH2n.4004T=
c.3171T= (p.Ser1057=)
c.2151T= (p.Ser717=)
c.2871T= (p.Ser957=)
c.3021T= (p.Ser1007=)
c.2994T= (p.Ser998=)
7g.150947036A>CCA369852361KCNH2n.4004T>G
c.3171T>G (p.Ser1057Arg)
c.2151T>G (p.Ser717Arg)
c.2871T>G (p.Ser957Arg)
c.3021T>G (p.Ser1007Arg)
c.2994T>G (p.Ser998Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947036A>GCA458644766KCNH2n.4004T>C
c.3171T>C (p.Ser1057=)
c.2151T>C (p.Ser717=)
c.2871T>C (p.Ser957=)
c.3021T>C (p.Ser1007=)
c.2994T>C (p.Ser998=)
 ClinVar dbSNP gnomAD v4
7g.150947036A>TCA369852363KCNH2n.4004T>A
c.3171T>A (p.Ser1057Arg)
c.2151T>A (p.Ser717Arg)
c.2871T>A (p.Ser957Arg)
c.3021T>A (p.Ser1007Arg)
c.2994T>A (p.Ser998Arg)
7g.150947037C>ACA369852366KCNH2n.4003G>T
c.3170G>T (p.Ser1057Ile)
c.2150G>T (p.Ser717Ile)
c.2870G>T (p.Ser957Ile)
c.3020G>T (p.Ser1007Ile)
c.2993G>T (p.Ser998Ile)
 ClinVar
7g.150947037C=CA1752427843KCNH2n.4003G=
c.3170G= (p.Ser1057=)
c.2150G= (p.Ser717=)
c.2870G= (p.Ser957=)
c.3020G= (p.Ser1007=)
c.2993G= (p.Ser998=)
7g.150947037C>GCA369852365KCNH2n.4003G>C
c.3170G>C (p.Ser1057Thr)
c.2150G>C (p.Ser717Thr)
c.2870G>C (p.Ser957Thr)
c.3020G>C (p.Ser1007Thr)
c.2993G>C (p.Ser998Thr)
7g.150947037C>TCA037703KCNH2n.4003G>A
c.3170G>A (p.Ser1057Asn)
c.2150G>A (p.Ser717Asn)
c.2870G>A (p.Ser957Asn)
c.3020G>A (p.Ser1007Asn)
c.2993G>A (p.Ser998Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947038T>ACA369852369KCNH2n.4002A>T
c.3169A>T (p.Ser1057Cys)
c.2149A>T (p.Ser717Cys)
c.2869A>T (p.Ser957Cys)
c.3019A>T (p.Ser1007Cys)
c.2992A>T (p.Ser998Cys)
7g.150947038T>CCA369852368KCNH2n.4002A>G
c.3169A>G (p.Ser1057Gly)
c.2149A>G (p.Ser717Gly)
c.2869A>G (p.Ser957Gly)
c.3019A>G (p.Ser1007Gly)
c.2992A>G (p.Ser998Gly)
7g.150947038T>GCA369852370KCNH2n.4002A>C
c.3169A>C (p.Ser1057Arg)
c.2149A>C (p.Ser717Arg)
c.2869A>C (p.Ser957Arg)
c.3019A>C (p.Ser1007Arg)
c.2992A>C (p.Ser998Arg)
7g.150947039C>ACA458644769KCNH2n.4001G>T
c.3168G>T (p.Leu1056=)
c.2148G>T (p.Leu716=)
c.2868G>T (p.Leu956=)
c.3018G>T (p.Leu1006=)
c.2991G>T (p.Leu997=)
 gnomAD v4
7g.150947039C=CA1752427846KCNH2n.4001G=
c.3168G= (p.Leu1056=)
c.2148G= (p.Leu716=)
c.2868G= (p.Leu956=)
c.3018G= (p.Leu1006=)
c.2991G= (p.Leu997=)
7g.150947039C>GCA458644767KCNH2n.4001G>C
c.3168G>C (p.Leu1056=)
c.2148G>C (p.Leu716=)
c.2868G>C (p.Leu956=)
c.3018G>C (p.Leu1006=)
c.2991G>C (p.Leu997=)
7g.150947039C>TCA458644768KCNH2n.4001G>A
c.3168G>A (p.Leu1056=)
c.2148G>A (p.Leu716=)
c.2868G>A (p.Leu956=)
c.3018G>A (p.Leu1006=)
c.2991G>A (p.Leu997=)
7g.150947040A>CCA369852371KCNH2n.4000T>G
c.3167T>G (p.Leu1056Arg)
c.2147T>G (p.Leu716Arg)
c.2867T>G (p.Leu956Arg)
c.3017T>G (p.Leu1006Arg)
c.2990T>G (p.Leu997Arg)
7g.150947040A>GCA369852373KCNH2n.4000T>C
c.3167T>C (p.Leu1056Pro)
c.2147T>C (p.Leu716Pro)
c.2867T>C (p.Leu956Pro)
c.3017T>C (p.Leu1006Pro)
c.2990T>C (p.Leu997Pro)
7g.150947040A>TCA369852372KCNH2n.4000T>A
c.3167T>A (p.Leu1056Gln)
c.2147T>A (p.Leu716Gln)
c.2867T>A (p.Leu956Gln)
c.3017T>A (p.Leu1006Gln)
c.2990T>A (p.Leu997Gln)
7g.150947040dupCA915945565KCNH2n.4000dup
c.3167dup (p.Ser1057GlufsTer?)
c.2147dup (p.Ser717GlufsTer?)
c.2867dup (p.Ser957GlufsTer?)
c.3017dup (p.Ser1007GlufsTer?)
c.2990dup (p.Ser998GlufsTer?)
 ClinVar dbSNP
7g.150947041G>ACA458644770KCNH2n.3999C>T
c.3166C>T (p.Leu1056=)
c.2146C>T (p.Leu716=)
c.2866C>T (p.Leu956=)
c.3016C>T (p.Leu1006=)
c.2989C>T (p.Leu997=)
 gnomAD v4
7g.150947041G>CCA369852374KCNH2n.3999C>G
c.3166C>G (p.Leu1056Val)
c.2146C>G (p.Leu716Val)
c.2866C>G (p.Leu956Val)
c.3016C>G (p.Leu1006Val)
c.2989C>G (p.Leu997Val)
7g.150947041G>TCA369852375KCNH2n.3999C>A
c.3166C>A (p.Leu1056Met)
c.2146C>A (p.Leu716Met)
c.2866C>A (p.Leu956Met)
c.3016C>A (p.Leu1006Met)
c.2989C>A (p.Leu997Met)
 ClinVar gnomAD v4
7g.150947042C>ACA458644771KCNH2n.3998G>T
c.3165G>T (p.Arg1055=)
c.2145G>T (p.Arg715=)
c.2865G>T (p.Arg955=)
c.3015G>T (p.Arg1005=)
c.2988G>T (p.Arg996=)
 gnomAD v4
7g.150947042C>GCA458644772KCNH2n.3998G>C
c.3165G>C (p.Arg1055=)
c.2145G>C (p.Arg715=)
c.2865G>C (p.Arg955=)
c.3015G>C (p.Arg1005=)
c.2988G>C (p.Arg996=)
7g.150947042C>TCA458644773KCNH2n.3998G>A
c.3165G>A (p.Arg1055=)
c.2145G>A (p.Arg715=)
c.2865G>A (p.Arg955=)
c.3015G>A (p.Arg1005=)
c.2988G>A (p.Arg996=)
 gnomAD v4
7g.150947043C>ACA369852377KCNH2n.3997G>T
c.3164G>T (p.Arg1055Leu)
c.2144G>T (p.Arg715Leu)
c.2864G>T (p.Arg955Leu)
c.3014G>T (p.Arg1005Leu)
c.2987G>T (p.Arg996Leu)
 gnomAD v4
7g.150947043C=CA1752427860KCNH2n.3997G=
c.3164G= (p.Arg1055=)
c.2144G= (p.Arg715=)
c.2864G= (p.Arg955=)
c.3014G= (p.Arg1005=)
c.2987G= (p.Arg996=)
7g.150947043C>GCA369852379KCNH2n.3997G>C
c.3164G>C (p.Arg1055Pro)
c.2144G>C (p.Arg715Pro)
c.2864G>C (p.Arg955Pro)
c.3014G>C (p.Arg1005Pro)
c.2987G>C (p.Arg996Pro)
7g.150947043C>TCA008062KCNH2n.3997G>A
c.3164G>A (p.Arg1055Gln)
c.2144G>A (p.Arg715Gln)
c.2864G>A (p.Arg955Gln)
c.3014G>A (p.Arg1005Gln)
c.2987G>A (p.Arg996Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947044G>ACA037673KCNH2n.3996C>T
c.3163C>T (p.Arg1055Trp)
c.2143C>T (p.Arg715Trp)
c.2863C>T (p.Arg955Trp)
c.3013C>T (p.Arg1005Trp)
c.2986C>T (p.Arg996Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947044G>CCA169071498KCNH2n.3996C>G
c.3163C>G (p.Arg1055Gly)
c.2143C>G (p.Arg715Gly)
c.2863C>G (p.Arg955Gly)
c.3013C>G (p.Arg1005Gly)
c.2986C>G (p.Arg996Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947044G=CA1752427865KCNH2n.3996C=
c.3163C= (p.Arg1055=)
c.2143C= (p.Arg715=)
c.2863C= (p.Arg955=)
c.3013C= (p.Arg1005=)
c.2986C= (p.Arg996=)
7g.150947044G>TCA458644774KCNH2n.3996C>A
c.3163C>A (p.Arg1055=)
c.2143C>A (p.Arg715=)
c.2863C>A (p.Arg955=)
c.3013C>A (p.Arg1005=)
c.2986C>A (p.Arg996=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947046delCA2579062560KCNH2n.3996del
c.3163del (p.Arg1055GlyfsTer2)
c.2143del (p.Arg715GlyfsTer2)
c.2863del (p.Arg955GlyfsTer2)
c.3013del (p.Arg1005GlyfsTer2)
c.2986del (p.Arg996GlyfsTer2)
7g.150947045G>ACA458644775KCNH2n.3995C>T
c.3162C>T (p.Thr1054=)
c.2142C>T (p.Thr714=)
c.2862C>T (p.Thr954=)
c.3012C>T (p.Thr1004=)
c.2985C>T (p.Thr995=)
 ClinVar gnomAD v4
7g.150947045G>CCA037652KCNH2n.3995C>G
c.3162C>G (p.Thr1054=)
c.2142C>G (p.Thr714=)
c.2862C>G (p.Thr954=)
c.3012C>G (p.Thr1004=)
c.2985C>G (p.Thr995=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947045G=CA1752427870KCNH2n.3995C=
c.3162C= (p.Thr1054=)
c.2142C= (p.Thr714=)
c.2862C= (p.Thr954=)
c.3012C= (p.Thr1004=)
c.2985C= (p.Thr995=)
7g.150947045G>TCA458644776KCNH2n.3995C>A
c.3162C>A (p.Thr1054=)
c.2142C>A (p.Thr714=)
c.2862C>A (p.Thr954=)
c.3012C>A (p.Thr1004=)
c.2985C>A (p.Thr995=)
7g.150947046G>ACA369852384KCNH2n.3994C>T
c.3161C>T (p.Thr1054Ile)
c.2141C>T (p.Thr714Ile)
c.2861C>T (p.Thr954Ile)
c.3011C>T (p.Thr1004Ile)
c.2984C>T (p.Thr995Ile)
 ClinVar dbSNP
7g.150947046G>CCA369852385KCNH2n.3994C>G
c.3161C>G (p.Thr1054Ser)
c.2141C>G (p.Thr714Ser)
c.2861C>G (p.Thr954Ser)
c.3011C>G (p.Thr1004Ser)
c.2984C>G (p.Thr995Ser)
7g.150947046G=CA1752427877KCNH2n.3994C=
c.3161C= (p.Thr1054=)
c.2141C= (p.Thr714=)
c.2861C= (p.Thr954=)
c.3011C= (p.Thr1004=)
c.2984C= (p.Thr995=)
7g.150947046G>TCA369852386KCNH2n.3994C>A
c.3161C>A (p.Thr1054Asn)
c.2141C>A (p.Thr714Asn)
c.2861C>A (p.Thr954Asn)
c.3011C>A (p.Thr1004Asn)
c.2984C>A (p.Thr995Asn)
 dbSNP gnomAD v4
7g.150947047T>ACA369852392KCNH2n.3993A>T
c.3160A>T (p.Thr1054Ser)
c.2140A>T (p.Thr714Ser)
c.2860A>T (p.Thr954Ser)
c.3010A>T (p.Thr1004Ser)
c.2983A>T (p.Thr995Ser)
7g.150947047T>CCA369852390KCNH2n.3993A>G
c.3160A>G (p.Thr1054Ala)
c.2140A>G (p.Thr714Ala)
c.2860A>G (p.Thr954Ala)
c.3010A>G (p.Thr1004Ala)
c.2983A>G (p.Thr995Ala)
 dbSNP gnomAD v4
7g.150947047T>GCA369852389KCNH2n.3993A>C
c.3160A>C (p.Thr1054Pro)
c.2140A>C (p.Thr714Pro)
c.2860A>C (p.Thr954Pro)
c.3010A>C (p.Thr1004Pro)
c.2983A>C (p.Thr995Pro)
7g.150947047dupCA2695208696KCNH2n.3993dup
c.3160dup (p.Thr1054AsnfsTer?)
c.2140dup (p.Thr714AsnfsTer?)
c.2860dup (p.Thr954AsnfsTer?)
c.3010dup (p.Thr1004AsnfsTer?)
c.2983dup (p.Thr995AsnfsTer?)
7g.150947048C>ACA369852394KCNH2n.3992G>T
c.3159G>T (p.Glu1053Asp)
c.2139G>T (p.Glu713Asp)
c.2859G>T (p.Glu953Asp)
c.3009G>T (p.Glu1003Asp)
c.2982G>T (p.Glu994Asp)
 gnomAD v4
7g.150947048C>GCA369852395KCNH2n.3992G>C
c.3159G>C (p.Glu1053Asp)
c.2139G>C (p.Glu713Asp)
c.2859G>C (p.Glu953Asp)
c.3009G>C (p.Glu1003Asp)
c.2982G>C (p.Glu994Asp)
7g.150947048C>TCA458644777KCNH2n.3992G>A
c.3159G>A (p.Glu1053=)
c.2139G>A (p.Glu713=)
c.2859G>A (p.Glu953=)
c.3009G>A (p.Glu1003=)
c.2982G>A (p.Glu994=)
7g.150947049T>ACA369852397KCNH2n.3991A>T
c.3158A>T (p.Glu1053Val)
c.2138A>T (p.Glu713Val)
c.2858A>T (p.Glu953Val)
c.3008A>T (p.Glu1003Val)
c.2981A>T (p.Glu994Val)
7g.150947049T>CCA369852398KCNH2n.3991A>G
c.3158A>G (p.Glu1053Gly)
c.2138A>G (p.Glu713Gly)
c.2858A>G (p.Glu953Gly)
c.3008A>G (p.Glu1003Gly)
c.2981A>G (p.Glu994Gly)
 gnomAD v4
7g.150947049T>GCA369852400KCNH2n.3991A>C
c.3158A>C (p.Glu1053Ala)
c.2138A>C (p.Glu713Ala)
c.2858A>C (p.Glu953Ala)
c.3008A>C (p.Glu1003Ala)
c.2981A>C (p.Glu994Ala)
7g.150947050C>ACA369852402KCNH2n.3990G>T
c.3157G>T (p.Glu1053Ter)
c.2137G>T (p.Glu713Ter)
c.2857G>T (p.Glu953Ter)
c.3007G>T (p.Glu1003Ter)
c.2980G>T (p.Glu994Ter)
7g.150947050C=CA1752427880KCNH2n.3990G=
c.3157G= (p.Glu1053=)
c.2137G= (p.Glu713=)
c.2857G= (p.Glu953=)
c.3007G= (p.Glu1003=)
c.2980G= (p.Glu994=)
7g.150947050C>GCA369852403KCNH2n.3990G>C
c.3157G>C (p.Glu1053Gln)
c.2137G>C (p.Glu713Gln)
c.2857G>C (p.Glu953Gln)
c.3007G>C (p.Glu1003Gln)
c.2980G>C (p.Glu994Gln)
 dbSNP
7g.150947050C>TCA369852404KCNH2n.3990G>A
c.3157G>A (p.Glu1053Lys)
c.2137G>A (p.Glu713Lys)
c.2857G>A (p.Glu953Lys)
c.3007G>A (p.Glu1003Lys)
c.2980G>A (p.Glu994Lys)
7g.150947051C>ACA458644778KCNH2n.3989G>T
c.3156G>T (p.Leu1052=)
c.2136G>T (p.Leu712=)
c.2856G>T (p.Leu952=)
c.3006G>T (p.Leu1002=)
c.2979G>T (p.Leu993=)
 gnomAD v4
7g.150947051C=CA1752427883KCNH2n.3989G=
c.3156G= (p.Leu1052=)
c.2136G= (p.Leu712=)
c.2856G= (p.Leu952=)
c.3006G= (p.Leu1002=)
c.2979G= (p.Leu993=)
7g.150947051C>GCA458644779KCNH2n.3989G>C
c.3156G>C (p.Leu1052=)
c.2136G>C (p.Leu712=)
c.2856G>C (p.Leu952=)
c.3006G>C (p.Leu1002=)
c.2979G>C (p.Leu993=)
7g.150947051C>TCA458644780KCNH2n.3989G>A
c.3156G>A (p.Leu1052=)
c.2136G>A (p.Leu712=)
c.2856G>A (p.Leu952=)
c.3006G>A (p.Leu1002=)
c.2979G>A (p.Leu993=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947052A>CCA369852406KCNH2n.3988T>G
c.3155T>G (p.Leu1052Arg)
c.2135T>G (p.Leu712Arg)
c.2855T>G (p.Leu952Arg)
c.3005T>G (p.Leu1002Arg)
c.2978T>G (p.Leu993Arg)
7g.150947052A>GCA369852408KCNH2n.3988T>C
c.3155T>C (p.Leu1052Pro)
c.2135T>C (p.Leu712Pro)
c.2855T>C (p.Leu952Pro)
c.3005T>C (p.Leu1002Pro)
c.2978T>C (p.Leu993Pro)
 gnomAD v4
7g.150947052A>TCA369852409KCNH2n.3988T>A
c.3155T>A (p.Leu1052Gln)
c.2135T>A (p.Leu712Gln)
c.2855T>A (p.Leu952Gln)
c.3005T>A (p.Leu1002Gln)
c.2978T>A (p.Leu993Gln)
 COSMIC
7g.150947053delCA658761306KCNH2n.3987del
c.3154del (p.Leu1052TrpfsTer5)
c.2134del (p.Leu712TrpfsTer5)
c.2854del (p.Leu952TrpfsTer5)
c.3004del (p.Leu1002TrpfsTer5)
c.2977del (p.Leu993TrpfsTer5)
7g.150947053G>ACA458644781KCNH2n.3987C>T
c.3154C>T (p.Leu1052=)
c.2134C>T (p.Leu712=)
c.2854C>T (p.Leu952=)
c.3004C>T (p.Leu1002=)
c.2977C>T (p.Leu993=)
7g.150947053G>CCA369852411KCNH2n.3987C>G
c.3154C>G (p.Leu1052Val)
c.2134C>G (p.Leu712Val)
c.2854C>G (p.Leu952Val)
c.3004C>G (p.Leu1002Val)
c.2977C>G (p.Leu993Val)
7g.150947053G>TCA369852412KCNH2n.3987C>A
c.3154C>A (p.Leu1052Met)
c.2134C>A (p.Leu712Met)
c.2854C>A (p.Leu952Met)
c.3004C>A (p.Leu1002Met)
c.2977C>A (p.Leu993Met)
 gnomAD v4
7g.150947054C>ACA369852413KCNH2n.3986G>T
c.3153G>T (p.Arg1051Ser)
c.2133G>T (p.Arg711Ser)
c.2853G>T (p.Arg951Ser)
c.3003G>T (p.Arg1001Ser)
c.2976G>T (p.Arg992Ser)
 ClinVar dbSNP gnomAD v4
7g.150947054C=CA1752427888KCNH2n.3986G=
c.3153G= (p.Arg1051=)
c.2133G= (p.Arg711=)
c.2853G= (p.Arg951=)
c.3003G= (p.Arg1001=)
c.2976G= (p.Arg992=)
7g.150947054C>GCA369852415KCNH2n.3986G>C
c.3153G>C (p.Arg1051Ser)
c.2133G>C (p.Arg711Ser)
c.2853G>C (p.Arg951Ser)
c.3003G>C (p.Arg1001Ser)
c.2976G>C (p.Arg992Ser)
7g.150947054C>TCA458644782KCNH2n.3986G>A
c.3153G>A (p.Arg1051=)
c.2133G>A (p.Arg711=)
c.2853G>A (p.Arg951=)
c.3003G>A (p.Arg1001=)
c.2976G>A (p.Arg992=)
 gnomAD v4
7g.150947055C>ACA369852417KCNH2n.3986-1G>T
c.3153-1G>T (n.3153-1G>T)
c.2133-1G>T (n.2133-1G>T)
c.2853-1G>T (n.2853-1G>T)
c.3003-1G>T (n.3003-1G>T)
c.2976-1G>T (n.2976-1G>T)
7g.150947055C>GCA369852418KCNH2n.3986-1G>C
c.3153-1G>C (n.3153-1G>C)
c.2133-1G>C (n.2133-1G>C)
c.2853-1G>C (n.2853-1G>C)
c.3003-1G>C (n.3003-1G>C)
c.2976-1G>C (n.2976-1G>C)
 ClinVar
7g.150947055C>TCA369852419KCNH2n.3986-1G>A
c.3153-1G>A (n.3153-1G>A)
c.2133-1G>A (n.2133-1G>A)
c.2853-1G>A (n.2853-1G>A)
c.3003-1G>A (n.3003-1G>A)
c.2976-1G>A (n.2976-1G>A)
7g.150947056T>ACA369852420KCNH2n.3986-2A>T
c.3153-2A>T (n.3153-2A>T)
c.2133-2A>T (n.2133-2A>T)
c.2853-2A>T (n.2853-2A>T)
c.3003-2A>T (n.3003-2A>T)
c.2976-2A>T (n.2976-2A>T)
7g.150947056T>CCA369852422KCNH2n.3986-2A>G
c.3153-2A>G (n.3153-2A>G)
c.2133-2A>G (n.2133-2A>G)
c.2853-2A>G (n.2853-2A>G)
c.3003-2A>G (n.3003-2A>G)
c.2976-2A>G (n.2976-2A>G)
 gnomAD v4
7g.150947056T>GCA369852423KCNH2n.3986-2A>C
c.3153-2A>C (n.3153-2A>C)
c.2133-2A>C (n.2133-2A>C)
c.2853-2A>C (n.2853-2A>C)
c.3003-2A>C (n.3003-2A>C)
c.2976-2A>C (n.2976-2A>C)
7g.150947057G>ACA579075293KCNH2n.3986-3C>T
c.3153-3C>T (n.3153-3C>T)
c.2133-3C>T (n.2133-3C>T)
c.2853-3C>T (n.2853-3C>T)
c.3003-3C>T (n.3003-3C>T)
c.2976-3C>T (n.2976-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947057G=CA1752427893KCNH2n.3986-3C=
c.3153-3C= (n.3153-3C=)
c.2133-3C= (n.2133-3C=)
c.2853-3C= (n.2853-3C=)
c.3003-3C= (n.3003-3C=)
c.2976-3C= (n.2976-3C=)
7g.150947060delCA2685600824KCNH2n.3986-3del
c.3153-3del (n.3153-3del)
c.2133-3del (n.2133-3del)
c.2853-3del (n.2853-3del)
c.3003-3del (n.3003-3del)
c.2976-3del (n.2976-3del)
 gnomAD v4

Number of alleles fetched