Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947372_150953685dupCA2580614280KCNH2n.1962-831_3942dup
c.1129-831_3109dup
c.109-831_2089dup
c.829-831_2809dup
c.979-831_2959dup
c.952-831_2932dup
7g.150948449_150948475delCA2580077776KCNH2n.3498_3524del
c.2665_2691del (p.Leu889_Lys897del)
c.1645_1671del (p.Leu549_Lys557del)
c.2365_2391del (p.Leu789_Lys797del)
c.2515_2541del (p.Leu839_Lys847del)
c.2488_2514del (p.Leu830_Lys838del)
ClinVar
7g.150948449_150948456delinsTCCGTGCGCA1752431270KCNH2n.3513_3520delinsCGCACGGA
c.2680_2687delinsCGCACGGA (p.Arg894=)
c.1660_1667delinsCGCACGGA (p.Arg554=)
c.2380_2387delinsCGCACGGA (p.Arg794=)
c.2530_2537delinsCGCACGGA (p.Arg844=)
c.2503_2510delinsCGCACGGA (p.Arg835=)
7g.150948452_150948458delCA658797036KCNH2n.3513_3519del
c.2680_2686del (p.Arg894ThrfsTer?)
c.1660_1666del (p.Arg554ThrfsTer?)
c.2380_2386del (p.Arg794ThrfsTer?)
c.2530_2536del (p.Arg844ThrfsTer?)
c.2503_2509del (p.Arg835ThrfsTer?)
ClinVar dbSNP
7g.150948453_150948456dupCA2499218791KCNH2n.3515_3518dup
c.2682_2685dup (p.Asp896HisfsTer25)
c.1662_1665dup (p.Asp556HisfsTer25)
c.2382_2385dup (p.Asp796HisfsTer25)
c.2682_2685dup (p.Asp896HisfsTer?)
c.2532_2535dup (p.Asp846HisfsTer25)
c.2505_2508dup (p.Asp837HisfsTer25)
ClinVar dbSNP
7g.150948452delCA2573141854KCNH2n.3517del
c.2684del (p.Thr895ArgfsTer?)
c.1664del (p.Thr555ArgfsTer?)
c.2384del (p.Thr795ArgfsTer?)
c.2534del (p.Thr845ArgfsTer?)
c.2507del (p.Thr836ArgfsTer?)
ClinVar dbSNP
7g.150948452G>ACA007147KCNH2n.3517C>T
c.2684C>T (p.Thr895Met)
c.1664C>T (p.Thr555Met)
c.2384C>T (p.Thr795Met)
c.2534C>T (p.Thr845Met)
c.2507C>T (p.Thr836Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948452G>CCA034086KCNH2n.3517C>G
c.2684C>G (p.Thr895Arg)
c.1664C>G (p.Thr555Arg)
c.2384C>G (p.Thr795Arg)
c.2534C>G (p.Thr845Arg)
c.2507C>G (p.Thr836Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948452G=CA1752431290KCNH2n.3517C=
c.2684C= (p.Thr895=)
c.1664C= (p.Thr555=)
c.2384C= (p.Thr795=)
c.2534C= (p.Thr845=)
c.2507C= (p.Thr836=)
7g.150948452G>TCA369853629KCNH2n.3517C>A
c.2684C>A (p.Thr895Lys)
c.1664C>A (p.Thr555Lys)
c.2384C>A (p.Thr795Lys)
c.2534C>A (p.Thr845Lys)
c.2507C>A (p.Thr836Lys)
ClinVar dbSNP gnomAD v4
7g.150948452_150948453insGGCA007140KCNH2n.3517_3518insCC
c.2684_2685insCC (p.Asp896ArgfsTer?)
c.1664_1665insCC (p.Asp556ArgfsTer?)
c.2384_2385insCC (p.Asp796ArgfsTer?)
c.2534_2535insCC (p.Asp846ArgfsTer?)
c.2507_2508insCC (p.Asp837ArgfsTer?)
ClinVar dbSNP
7g.150948452_150948458delinsGTGCGCCCA1752431289KCNH2n.3511_3517delinsGGCGCAC
c.2678_2684delinsGGCGCAC (p.Arg893=)
c.1658_1664delinsGGCGCAC (p.Arg553=)
c.2378_2384delinsGGCGCAC (p.Arg793=)
c.2528_2534delinsGGCGCAC (p.Arg843=)
c.2501_2507delinsGGCGCAC (p.Arg834=)
7g.150948452_150948453insGTGCCA2695208813KCNH2n.3516_3517insGCAC
c.2683_2684insGCAC (p.Thr895SerfsTer26)
c.1663_1664insGCAC (p.Thr555SerfsTer26)
c.2383_2384insGCAC (p.Thr795SerfsTer26)
c.2683_2684insGCAC (p.Thr895SerfsTer?)
c.2533_2534insGCAC (p.Thr845SerfsTer26)
c.2506_2507insGCAC (p.Thr836SerfsTer26)
7g.150948453T>ACA369853632KCNH2n.3516A>T
c.2683A>T (p.Thr895Ser)
c.1663A>T (p.Thr555Ser)
c.2383A>T (p.Thr795Ser)
c.2533A>T (p.Thr845Ser)
c.2506A>T (p.Thr836Ser)
7g.150948453T>CCA369853634KCNH2n.3516A>G
c.2683A>G (p.Thr895Ala)
c.1663A>G (p.Thr555Ala)
c.2383A>G (p.Thr795Ala)
c.2533A>G (p.Thr845Ala)
c.2506A>G (p.Thr836Ala)
gnomAD v4
7g.150948453T>GCA369853635KCNH2n.3516A>C
c.2683A>C (p.Thr895Pro)
c.1663A>C (p.Thr555Pro)
c.2383A>C (p.Thr795Pro)
c.2533A>C (p.Thr845Pro)
c.2506A>C (p.Thr836Pro)
gnomAD v4
7g.150948457_150948462dupCA4566425KCNH2n.3511_3516dup
c.2678_2683dup (p.Arg894_Thr895insArgArg)
c.1658_1663dup (p.Arg554_Thr555insArgArg)
c.2378_2383dup (p.Arg794_Thr795insArgArg)
c.2528_2533dup (p.Arg844_Thr845insArgArg)
c.2501_2506dup (p.Arg835_Thr836insArgArg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948457_150948462delCA1752431297KCNH2n.3511_3516del
c.2678_2683del (p.Arg893_Arg894del)
c.1658_1663del (p.Arg553_Arg554del)
c.2378_2383del (p.Arg793_Arg794del)
c.2528_2533del (p.Arg843_Arg844del)
c.2501_2506del (p.Arg834_Arg835del)
ClinVar dbSNP
7g.150948458_150948478dupCA4566426KCNH2n.3496_3516dup
c.2663_2683dup (p.Arg894_Thr895insLysLeuSerPheArgArgArg)
c.1643_1663dup (p.Arg554_Thr555insLysLeuSerPheArgArgArg)
c.2363_2383dup (p.Arg794_Thr795insLysLeuSerPheArgArgArg)
c.2513_2533dup (p.Arg844_Thr845insLysLeuSerPheArgArgArg)
c.2486_2506dup (p.Arg835_Thr836insLysLeuSerPheArgArgArg)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948454G>ACA458644972KCNH2n.3515C>T
c.2682C>T (p.Arg894=)
c.1662C>T (p.Arg554=)
c.2382C>T (p.Arg794=)
c.2532C>T (p.Arg844=)
c.2505C>T (p.Arg835=)
ClinVar dbSNP gnomAD v4
7g.150948454G>CCA458644973KCNH2n.3515C>G
c.2682C>G (p.Arg894=)
c.1662C>G (p.Arg554=)
c.2382C>G (p.Arg794=)
c.2532C>G (p.Arg844=)
c.2505C>G (p.Arg835=)
7g.150948454G=CA1752431302KCNH2n.3515C=
c.2682C= (p.Arg894=)
c.1662C= (p.Arg554=)
c.2382C= (p.Arg794=)
c.2532C= (p.Arg844=)
c.2505C= (p.Arg835=)
7g.150948454G>TCA458644974KCNH2n.3515C>A
c.2682C>A (p.Arg894=)
c.1662C>A (p.Arg554=)
c.2382C>A (p.Arg794=)
c.2532C>A (p.Arg844=)
c.2505C>A (p.Arg835=)
gnomAD v4
7g.150948456_150948457dupCA2685600457KCNH2n.3514_3515dup
c.2681_2682dup (p.Thr895AlafsTer?)
c.1661_1662dup (p.Thr555AlafsTer?)
c.2381_2382dup (p.Thr795AlafsTer?)
c.2531_2532dup (p.Thr845AlafsTer?)
c.2504_2505dup (p.Thr836AlafsTer?)
gnomAD v4
7g.150948456_150948457delCA2685600458KCNH2n.3514_3515del
c.2681_2682del (p.Arg894HisfsTer25)
c.1661_1662del (p.Arg554HisfsTer25)
c.2381_2382del (p.Arg794HisfsTer25)
c.2681_2682del (p.Arg894HisfsTer?)
c.2531_2532del (p.Arg844HisfsTer25)
c.2504_2505del (p.Arg835HisfsTer25)
gnomAD v4
7g.150948454_150948460delCA658761323KCNH2n.3509_3515del
c.2676_2682del (p.Arg894ThrfsTer?)
c.1656_1662del (p.Arg554ThrfsTer?)
c.2376_2382del (p.Arg794ThrfsTer?)
c.2526_2532del (p.Arg844ThrfsTer?)
c.2499_2505del (p.Arg835ThrfsTer?)
7g.150948455C>ACA007134KCNH2n.3514G>T
c.2681G>T (p.Arg894Leu)
c.1661G>T (p.Arg554Leu)
c.2381G>T (p.Arg794Leu)
c.2531G>T (p.Arg844Leu)
c.2504G>T (p.Arg835Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948455C=CA1752431309KCNH2n.3514G=
c.2681G= (p.Arg894=)
c.1661G= (p.Arg554=)
c.2381G= (p.Arg794=)
c.2531G= (p.Arg844=)
c.2504G= (p.Arg835=)
7g.150948455C>GCA369853638KCNH2n.3514G>C
c.2681G>C (p.Arg894Pro)
c.1661G>C (p.Arg554Pro)
c.2381G>C (p.Arg794Pro)
c.2531G>C (p.Arg844Pro)
c.2504G>C (p.Arg835Pro)
dbSNP gnomAD v4
7g.150948455C>TCA034058KCNH2n.3514G>A
c.2681G>A (p.Arg894His)
c.1661G>A (p.Arg554His)
c.2381G>A (p.Arg794His)
c.2531G>A (p.Arg844His)
c.2504G>A (p.Arg835His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.150948456_150948458dupCA1752431312KCNH2n.3512_3514dup
c.2679_2681dup (p.Arg894_Thr895insArg)
c.1659_1661dup (p.Arg554_Thr555insArg)
c.2379_2381dup (p.Arg794_Thr795insArg)
c.2529_2531dup (p.Arg844_Thr845insArg)
c.2502_2504dup (p.Arg835_Thr836insArg)
dbSNP gnomAD v4
7g.150948456G>ACA007127KCNH2n.3513C>T
c.2680C>T (p.Arg894Cys)
c.1660C>T (p.Arg554Cys)
c.2380C>T (p.Arg794Cys)
c.2530C>T (p.Arg844Cys)
c.2503C>T (p.Arg835Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948456G>CCA369853640KCNH2n.3513C>G
c.2680C>G (p.Arg894Gly)
c.1660C>G (p.Arg554Gly)
c.2380C>G (p.Arg794Gly)
c.2530C>G (p.Arg844Gly)
c.2503C>G (p.Arg835Gly)
7g.150948456G=CA1752431316KCNH2n.3513C=
c.2680C= (p.Arg894=)
c.1660C= (p.Arg554=)
c.2380C= (p.Arg794=)
c.2530C= (p.Arg844=)
c.2503C= (p.Arg835=)
7g.150948456G>TCA369853641KCNH2n.3513C>A
c.2680C>A (p.Arg894Ser)
c.1660C>A (p.Arg554Ser)
c.2380C>A (p.Arg794Ser)
c.2530C>A (p.Arg844Ser)
c.2503C>A (p.Arg835Ser)
gnomAD v4
7g.150948456_150948460dupCA2499218792KCNH2n.3509_3513dup
c.2676_2680dup (p.Arg894ProfsTer?)
c.1656_1660dup (p.Arg554ProfsTer?)
c.2376_2380dup (p.Arg794ProfsTer?)
c.2526_2530dup (p.Arg844ProfsTer?)
c.2499_2503dup (p.Arg835ProfsTer?)
ClinVar dbSNP
7g.150948458_150948461dupCA658797037KCNH2n.3510_3513dup
c.2677_2680dup (p.Arg894GlnfsTer27)
c.1657_1660dup (p.Arg554GlnfsTer27)
c.2377_2380dup (p.Arg794GlnfsTer27)
c.2677_2680dup (p.Arg894GlnfsTer?)
c.2527_2530dup (p.Arg844GlnfsTer27)
c.2500_2503dup (p.Arg835GlnfsTer27)
ClinVar dbSNP gnomAD v4
7g.150948457C>ACA369853642KCNH2n.3512G>T
c.2679G>T (p.Arg893Ser)
c.1659G>T (p.Arg553Ser)
c.2379G>T (p.Arg793Ser)
c.2529G>T (p.Arg843Ser)
c.2502G>T (p.Arg834Ser)
gnomAD v4
7g.150948457C=CA1752431321KCNH2n.3512G=
c.2679G= (p.Arg893=)
c.1659G= (p.Arg553=)
c.2379G= (p.Arg793=)
c.2529G= (p.Arg843=)
c.2502G= (p.Arg834=)
7g.150948457C>GCA369853644KCNH2n.3512G>C
c.2679G>C (p.Arg893Ser)
c.1659G>C (p.Arg553Ser)
c.2379G>C (p.Arg793Ser)
c.2529G>C (p.Arg843Ser)
c.2502G>C (p.Arg834Ser)
7g.150948457C>TCA458644975KCNH2n.3512G>A
c.2679G>A (p.Arg893=)
c.1659G>A (p.Arg553=)
c.2379G>A (p.Arg793=)
c.2529G>A (p.Arg843=)
c.2502G>A (p.Arg834=)
ClinVar dbSNP gnomAD v4
7g.150948457_150948461dupCA645372848KCNH2n.3508_3512dup
c.2675_2679dup (p.Arg894AlafsTer?)
c.1655_1659dup (p.Arg554AlafsTer?)
c.2375_2379dup (p.Arg794AlafsTer?)
c.2525_2529dup (p.Arg844AlafsTer?)
c.2498_2502dup (p.Arg835AlafsTer?)
ClinVar dbSNP
7g.150948458C>ACA369853647KCNH2n.3511G>T
c.2678G>T (p.Arg893Met)
c.1658G>T (p.Arg553Met)
c.2378G>T (p.Arg793Met)
c.2528G>T (p.Arg843Met)
c.2501G>T (p.Arg834Met)
7g.150948458C=CA1752431325KCNH2n.3511G=
c.2678G= (p.Arg893=)
c.1658G= (p.Arg553=)
c.2378G= (p.Arg793=)
c.2528G= (p.Arg843=)
c.2501G= (p.Arg834=)
7g.150948458C>GCA369853649KCNH2n.3511G>C
c.2678G>C (p.Arg893Thr)
c.1658G>C (p.Arg553Thr)
c.2378G>C (p.Arg793Thr)
c.2528G>C (p.Arg843Thr)
c.2501G>C (p.Arg834Thr)
7g.150948458C>TCA369853646KCNH2n.3511G>A
c.2678G>A (p.Arg893Lys)
c.1658G>A (p.Arg553Lys)
c.2378G>A (p.Arg793Lys)
c.2528G>A (p.Arg843Lys)
c.2501G>A (p.Arg834Lys)
ClinVar dbSNP COSMIC COSMIC
7g.150948459T>ACA369853650KCNH2n.3510A>T
c.2677A>T (p.Arg893Trp)
c.1657A>T (p.Arg553Trp)
c.2377A>T (p.Arg793Trp)
c.2527A>T (p.Arg843Trp)
c.2500A>T (p.Arg834Trp)
7g.150948459T>CCA369853652KCNH2n.3510A>G
c.2677A>G (p.Arg893Gly)
c.1657A>G (p.Arg553Gly)
c.2377A>G (p.Arg793Gly)
c.2527A>G (p.Arg843Gly)
c.2500A>G (p.Arg834Gly)
gnomAD v4
7g.150948459T>GCA458644976KCNH2n.3510A>C
c.2677A>C (p.Arg893=)
c.1657A>C (p.Arg553=)
c.2377A>C (p.Arg793=)
c.2527A>C (p.Arg843=)
c.2500A>C (p.Arg834=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150948459T=CA1752431326KCNH2n.3510A=
c.2677A= (p.Arg893=)
c.1657A= (p.Arg553=)
c.2377A= (p.Arg793=)
c.2527A= (p.Arg843=)
c.2500A= (p.Arg834=)
7g.150948459_150948460delinsTGCA1752431327KCNH2n.3509_3510delinsCA
c.2676_2677delinsCA (p.Arg892=)
c.1656_1657delinsCA (p.Arg552=)
c.2376_2377delinsCA (p.Arg792=)
c.2526_2527delinsCA (p.Arg842=)
c.2499_2500delinsCA (p.Arg833=)
7g.150948460delCA1139660337KCNH2n.3509del
c.2676del (p.Arg893GlyfsTer?)
c.1656del (p.Arg553GlyfsTer?)
c.2376del (p.Arg793GlyfsTer?)
c.2526del (p.Arg843GlyfsTer?)
c.2499del (p.Arg834GlyfsTer?)
ClinVar dbSNP
7g.150948460G>ACA458644977KCNH2n.3509C>T
c.2676C>T (p.Arg892=)
c.1656C>T (p.Arg552=)
c.2376C>T (p.Arg792=)
c.2526C>T (p.Arg842=)
c.2499C>T (p.Arg833=)
dbSNP gnomAD v2
7g.150948460G>CCA458644978KCNH2n.3509C>G
c.2676C>G (p.Arg892=)
c.1656C>G (p.Arg552=)
c.2376C>G (p.Arg792=)
c.2526C>G (p.Arg842=)
c.2499C>G (p.Arg833=)
7g.150948460G=CA1752431328KCNH2n.3509C=
c.2676C= (p.Arg892=)
c.1656C= (p.Arg552=)
c.2376C= (p.Arg792=)
c.2526C= (p.Arg842=)
c.2499C= (p.Arg833=)
7g.150948460G>TCA458644979KCNH2n.3509C>A
c.2676C>A (p.Arg892=)
c.1656C>A (p.Arg552=)
c.2376C>A (p.Arg792=)
c.2526C>A (p.Arg842=)
c.2499C>A (p.Arg833=)
ClinVar dbSNP gnomAD v4
7g.150948461C>ACA369853653KCNH2n.3508G>T
c.2675G>T (p.Arg892Leu)
c.1655G>T (p.Arg552Leu)
c.2375G>T (p.Arg792Leu)
c.2525G>T (p.Arg842Leu)
c.2498G>T (p.Arg833Leu)
ClinVar dbSNP gnomAD v4
7g.150948461C=CA1752431334KCNH2n.3508G=
c.2675G= (p.Arg892=)
c.1655G= (p.Arg552=)
c.2375G= (p.Arg792=)
c.2525G= (p.Arg842=)
c.2498G= (p.Arg833=)
7g.150948461C>GCA369853654KCNH2n.3508G>C
c.2675G>C (p.Arg892Pro)
c.1655G>C (p.Arg552Pro)
c.2375G>C (p.Arg792Pro)
c.2525G>C (p.Arg842Pro)
c.2498G>C (p.Arg833Pro)
7g.150948461C>TCA033981KCNH2n.3508G>A
c.2675G>A (p.Arg892His)
c.1655G>A (p.Arg552His)
c.2375G>A (p.Arg792His)
c.2525G>A (p.Arg842His)
c.2498G>A (p.Arg833His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948462G>ACA007118KCNH2n.3507C>T
c.2674C>T (p.Arg892Cys)
c.1654C>T (p.Arg552Cys)
c.2374C>T (p.Arg792Cys)
c.2524C>T (p.Arg842Cys)
c.2497C>T (p.Arg833Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948462G>CCA033951KCNH2n.3507C>G
c.2674C>G (p.Arg892Gly)
c.1654C>G (p.Arg552Gly)
c.2374C>G (p.Arg792Gly)
c.2524C>G (p.Arg842Gly)
c.2497C>G (p.Arg833Gly)
ClinVar dbSNP ExAC COSMIC COSMIC
7g.150948462G=CA1752431335KCNH2n.3507C=
c.2674C= (p.Arg892=)
c.1654C= (p.Arg552=)
c.2374C= (p.Arg792=)
c.2524C= (p.Arg842=)
c.2497C= (p.Arg833=)
7g.150948462G>TCA369853658KCNH2n.3507C>A
c.2674C>A (p.Arg892Ser)
c.1654C>A (p.Arg552Ser)
c.2374C>A (p.Arg792Ser)
c.2524C>A (p.Arg842Ser)
c.2497C>A (p.Arg833Ser)
ClinVar dbSNP gnomAD v4
7g.150948462_150948464dupCA578701876KCNH2n.3505_3507dup
c.2672_2674dup (p.Phe891_Arg892insLeu)
c.1652_1654dup (p.Phe551_Arg552insLeu)
c.2372_2374dup (p.Phe791_Arg792insLeu)
c.2522_2524dup (p.Phe841_Arg842insLeu)
c.2495_2497dup (p.Phe832_Arg833insLeu)
dbSNP gnomAD v2 gnomAD v4
7g.150948463G>ACA033902KCNH2n.3506C>T
c.2673C>T (p.Phe891=)
c.1653C>T (p.Phe551=)
c.2373C>T (p.Phe791=)
c.2523C>T (p.Phe841=)
c.2496C>T (p.Phe832=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948463G>CCA369853661KCNH2n.3506C>G
c.2673C>G (p.Phe891Leu)
c.1653C>G (p.Phe551Leu)
c.2373C>G (p.Phe791Leu)
c.2523C>G (p.Phe841Leu)
c.2496C>G (p.Phe832Leu)
gnomAD v4
7g.150948463G=CA1752431340KCNH2n.3506C=
c.2673C= (p.Phe891=)
c.1653C= (p.Phe551=)
c.2373C= (p.Phe791=)
c.2523C= (p.Phe841=)
c.2496C= (p.Phe832=)
7g.150948463G>TCA369853662KCNH2n.3506C>A
c.2673C>A (p.Phe891Leu)
c.1653C>A (p.Phe551Leu)
c.2373C>A (p.Phe791Leu)
c.2523C>A (p.Phe841Leu)
c.2496C>A (p.Phe832Leu)
gnomAD v4
7g.150948463_150948464delinsATCA2573052836KCNH2n.3505_3506delinsAT
c.2672_2673delinsAT (p.Phe891Tyr)
c.1652_1653delinsAT (p.Phe551Tyr)
c.2372_2373delinsAT (p.Phe791Tyr)
c.2522_2523delinsAT (p.Phe841Tyr)
c.2495_2496delinsAT (p.Phe832Tyr)
ClinVar dbSNP
7g.150948464A=CA1752431341KCNH2n.3505T=
c.2672T= (p.Phe891=)
c.1652T= (p.Phe551=)
c.2372T= (p.Phe791=)
c.2522T= (p.Phe841=)
c.2495T= (p.Phe832=)
7g.150948464A>CCA369853663KCNH2n.3505T>G
c.2672T>G (p.Phe891Cys)
c.1652T>G (p.Phe551Cys)
c.2372T>G (p.Phe791Cys)
c.2522T>G (p.Phe841Cys)
c.2495T>G (p.Phe832Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150948464A>GCA369853665KCNH2n.3505T>C
c.2672T>C (p.Phe891Ser)
c.1652T>C (p.Phe551Ser)
c.2372T>C (p.Phe791Ser)
c.2522T>C (p.Phe841Ser)
c.2495T>C (p.Phe832Ser)
7g.150948464A>TCA369853666KCNH2n.3505T>A
c.2672T>A (p.Phe891Tyr)
c.1652T>A (p.Phe551Tyr)
c.2372T>A (p.Phe791Tyr)
c.2522T>A (p.Phe841Tyr)
c.2495T>A (p.Phe832Tyr)
dbSNP
7g.150948465A>CCA369853670KCNH2n.3504T>G
c.2671T>G (p.Phe891Val)
c.1651T>G (p.Phe551Val)
c.2371T>G (p.Phe791Val)
c.2521T>G (p.Phe841Val)
c.2494T>G (p.Phe832Val)
7g.150948465A>GCA369853668KCNH2n.3504T>C
c.2671T>C (p.Phe891Leu)
c.1651T>C (p.Phe551Leu)
c.2371T>C (p.Phe791Leu)
c.2521T>C (p.Phe841Leu)
c.2494T>C (p.Phe832Leu)
7g.150948465A>TCA369853669KCNH2n.3504T>A
c.2671T>A (p.Phe891Ile)
c.1651T>A (p.Phe551Ile)
c.2371T>A (p.Phe791Ile)
c.2521T>A (p.Phe841Ile)
c.2494T>A (p.Phe832Ile)
7g.150948465_150948466insCTTCA2579062593KCNH2n.3503_3504insAAG
c.2670_2671insAAG (p.Ser890_Phe891insLys)
c.1650_1651insAAG (p.Ser550_Phe551insLys)
c.2370_2371insAAG (p.Ser790_Phe791insLys)
c.2520_2521insAAG (p.Ser840_Phe841insLys)
c.2493_2494insAAG (p.Ser831_Phe832insLys)
7g.150948465_150948466insCTTGCCA2502904577KCNH2n.3503_3504insGCAAG
c.2670_2671insGCAAG (p.Phe891AlafsTer?)
c.1650_1651insGCAAG (p.Phe551AlafsTer?)
c.2370_2371insGCAAG (p.Phe791AlafsTer?)
c.2520_2521insGCAAG (p.Phe841AlafsTer?)
c.2493_2494insGCAAG (p.Phe832AlafsTer?)
gnomAD v4
7g.150948466G>ACA033884KCNH2n.3503C>T
c.2670C>T (p.Ser890=)
c.1650C>T (p.Ser550=)
c.2370C>T (p.Ser790=)
c.2520C>T (p.Ser840=)
c.2493C>T (p.Ser831=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948466G>CCA169073197KCNH2n.3503C>G
c.2670C>G (p.Ser890=)
c.1650C>G (p.Ser550=)
c.2370C>G (p.Ser790=)
c.2520C>G (p.Ser840=)
c.2493C>G (p.Ser831=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150948466G=CA1752431346KCNH2n.3503C=
c.2670C= (p.Ser890=)
c.1650C= (p.Ser550=)
c.2370C= (p.Ser790=)
c.2520C= (p.Ser840=)
c.2493C= (p.Ser831=)
7g.150948466G>TCA458644980KCNH2n.3503C>A
c.2670C>A (p.Ser890=)
c.1650C>A (p.Ser550=)
c.2370C>A (p.Ser790=)
c.2520C>A (p.Ser840=)
c.2493C>A (p.Ser831=)
7g.150948466_150948468delinsCTTGCGCA2580077779KCNH2n.3501_3503delinsCGCAAG
c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys)
c.1648_1650delinsCGCAAG (p.Ser550delinsArgLys)
c.2368_2370delinsCGCAAG (p.Ser790delinsArgLys)
c.2518_2520delinsCGCAAG (p.Ser840delinsArgLys)
c.2491_2493delinsCGCAAG (p.Ser831delinsArgLys)
ClinVar
7g.150948466_150948472delCA2685600481KCNH2n.3497_3503del
c.2664_2670del (p.Lys888AsnfsTer?)
c.1644_1650del (p.Lys548AsnfsTer?)
c.2364_2370del (p.Lys788AsnfsTer?)
c.2514_2520del (p.Lys838AsnfsTer?)
c.2487_2493del (p.Lys829AsnfsTer?)
gnomAD v4
7g.150948467G>ACA369853673KCNH2n.3502C>T
c.2669C>T (p.Ser890Phe)
c.1649C>T (p.Ser550Phe)
c.2369C>T (p.Ser790Phe)
c.2519C>T (p.Ser840Phe)
c.2492C>T (p.Ser831Phe)
COSMIC COSMIC
7g.150948467G>CCA369853675KCNH2n.3502C>G
c.2669C>G (p.Ser890Cys)
c.1649C>G (p.Ser550Cys)
c.2369C>G (p.Ser790Cys)
c.2519C>G (p.Ser840Cys)
c.2492C>G (p.Ser831Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150948467G=CA1752431352KCNH2n.3502C=
c.2669C= (p.Ser890=)
c.1649C= (p.Ser550=)
c.2369C= (p.Ser790=)
c.2519C= (p.Ser840=)
c.2492C= (p.Ser831=)
7g.150948467G>TCA369853676KCNH2n.3502C>A
c.2669C>A (p.Ser890Tyr)
c.1649C>A (p.Ser550Tyr)
c.2369C>A (p.Ser790Tyr)
c.2519C>A (p.Ser840Tyr)
c.2492C>A (p.Ser831Tyr)
gnomAD v4
7g.150948467_150948468delCA2500743728KCNH2n.3501_3502del
c.2668_2669del (p.Ser890LeufsTer29)
c.1648_1649del (p.Ser550LeufsTer29)
c.2368_2369del (p.Ser790LeufsTer29)
c.2668_2669del (p.Ser890LeufsTer?)
c.2518_2519del (p.Ser840LeufsTer29)
c.2491_2492del (p.Ser831LeufsTer29)
gnomAD v4
7g.150948468A=CA1752431358KCNH2n.3501T=
c.2668T= (p.Ser890=)
c.1648T= (p.Ser550=)
c.2368T= (p.Ser790=)
c.2518T= (p.Ser840=)
c.2491T= (p.Ser831=)
7g.150948468A>CCA369853678KCNH2n.3501T>G
c.2668T>G (p.Ser890Ala)
c.1648T>G (p.Ser550Ala)
c.2368T>G (p.Ser790Ala)
c.2518T>G (p.Ser840Ala)
c.2491T>G (p.Ser831Ala)
7g.150948468A>GCA369853680KCNH2n.3501T>C
c.2668T>C (p.Ser890Pro)
c.1648T>C (p.Ser550Pro)
c.2368T>C (p.Ser790Pro)
c.2518T>C (p.Ser840Pro)
c.2491T>C (p.Ser831Pro)
ClinVar dbSNP
7g.150948468A>TCA369853681KCNH2n.3501T>A
c.2668T>A (p.Ser890Thr)
c.1648T>A (p.Ser550Thr)
c.2368T>A (p.Ser790Thr)
c.2518T>A (p.Ser840Thr)
c.2491T>A (p.Ser831Thr)
7g.150948469C>ACA369853683KCNH2n.3500G>T
c.2667G>T (p.Leu889Phe)
c.1647G>T (p.Leu549Phe)
c.2367G>T (p.Leu789Phe)
c.2517G>T (p.Leu839Phe)
c.2490G>T (p.Leu830Phe)
gnomAD v4
7g.150948469C=CA1752431361KCNH2n.3500G=
c.2667G= (p.Leu889=)
c.1647G= (p.Leu549=)
c.2367G= (p.Leu789=)
c.2517G= (p.Leu839=)
c.2490G= (p.Leu830=)
7g.150948469C>GCA369853685KCNH2n.3500G>C
c.2667G>C (p.Leu889Phe)
c.1647G>C (p.Leu549Phe)
c.2367G>C (p.Leu789Phe)
c.2517G>C (p.Leu839Phe)
c.2490G>C (p.Leu830Phe)
7g.150948469C>TCA458644981KCNH2n.3500G>A
c.2667G>A (p.Leu889=)
c.1647G>A (p.Leu549=)
c.2367G>A (p.Leu789=)
c.2517G>A (p.Leu839=)
c.2490G>A (p.Leu830=)
dbSNP gnomAD v2 gnomAD v4
7g.150948470A>CCA369853686KCNH2n.3499T>G
c.2666T>G (p.Leu889Trp)
c.1646T>G (p.Leu549Trp)
c.2366T>G (p.Leu789Trp)
c.2516T>G (p.Leu839Trp)
c.2489T>G (p.Leu830Trp)
7g.150948470A>GCA369853687KCNH2n.3499T>C
c.2666T>C (p.Leu889Ser)
c.1646T>C (p.Leu549Ser)
c.2366T>C (p.Leu789Ser)
c.2516T>C (p.Leu839Ser)
c.2489T>C (p.Leu830Ser)
ClinVar
7g.150948470A>TCA369853688KCNH2n.3499T>A
c.2666T>A (p.Leu889Ter)
c.1646T>A (p.Leu549Ter)
c.2366T>A (p.Leu789Ter)
c.2516T>A (p.Leu839Ter)
c.2489T>A (p.Leu830Ter)
7g.150948471A=CA1752431369KCNH2n.3498T=
c.2665T= (p.Leu889=)
c.1645T= (p.Leu549=)
c.2365T= (p.Leu789=)
c.2515T= (p.Leu839=)
c.2488T= (p.Leu830=)
7g.150948471A>CCA007102KCNH2n.3498T>G
c.2665T>G (p.Leu889Val)
c.1645T>G (p.Leu549Val)
c.2365T>G (p.Leu789Val)
c.2515T>G (p.Leu839Val)
c.2488T>G (p.Leu830Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948471A>GCA458644982KCNH2n.3498T>C
c.2665T>C (p.Leu889=)
c.1645T>C (p.Leu549=)
c.2365T>C (p.Leu789=)
c.2515T>C (p.Leu839=)
c.2488T>C (p.Leu830=)
dbSNP
7g.150948471A>TCA033812KCNH2n.3498T>A
c.2665T>A (p.Leu889Met)
c.1645T>A (p.Leu549Met)
c.2365T>A (p.Leu789Met)
c.2515T>A (p.Leu839Met)
c.2488T>A (p.Leu830Met)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948472C>ACA369853691KCNH2n.3497G>T
c.2664G>T (p.Lys888Asn)
c.1644G>T (p.Lys548Asn)
c.2364G>T (p.Lys788Asn)
c.2514G>T (p.Lys838Asn)
c.2487G>T (p.Lys829Asn)
7g.150948472C=CA1752431372KCNH2n.3497G=
c.2664G= (p.Lys888=)
c.1644G= (p.Lys548=)
c.2364G= (p.Lys788=)
c.2514G= (p.Lys838=)
c.2487G= (p.Lys829=)
7g.150948472C>GCA369853693KCNH2n.3497G>C
c.2664G>C (p.Lys888Asn)
c.1644G>C (p.Lys548Asn)
c.2364G>C (p.Lys788Asn)
c.2514G>C (p.Lys838Asn)
c.2487G>C (p.Lys829Asn)
7g.150948472C>TCA458644983KCNH2n.3497G>A
c.2664G>A (p.Lys888=)
c.1644G>A (p.Lys548=)
c.2364G>A (p.Lys788=)
c.2514G>A (p.Lys838=)
c.2487G>A (p.Lys829=)
dbSNP gnomAD v2 gnomAD v4
7g.150948478_150948483delCA2685600492KCNH2n.3492_3497del
c.2659_2664del (p.Arg887_Lys888del)
c.1639_1644del (p.Arg547_Lys548del)
c.2359_2364del (p.Arg787_Lys788del)
c.2509_2514del (p.Arg837_Lys838del)
c.2482_2487del (p.Arg828_Lys829del)
gnomAD v4
7g.150948473T>ACA369853695KCNH2n.3496A>T
c.2663A>T (p.Lys888Met)
c.1643A>T (p.Lys548Met)
c.2363A>T (p.Lys788Met)
c.2513A>T (p.Lys838Met)
c.2486A>T (p.Lys829Met)
7g.150948473T>CCA369853696KCNH2n.3496A>G
c.2663A>G (p.Lys888Arg)
c.1643A>G (p.Lys548Arg)
c.2363A>G (p.Lys788Arg)
c.2513A>G (p.Lys838Arg)
c.2486A>G (p.Lys829Arg)
7g.150948473T>GCA369853698KCNH2n.3496A>C
c.2663A>C (p.Lys888Thr)
c.1643A>C (p.Lys548Thr)
c.2363A>C (p.Lys788Thr)
c.2513A>C (p.Lys838Thr)
c.2486A>C (p.Lys829Thr)
gnomAD v4
7g.150948474T>ACA369853700KCNH2n.3495A>T
c.2662A>T (p.Lys888Ter)
c.1642A>T (p.Lys548Ter)
c.2362A>T (p.Lys788Ter)
c.2512A>T (p.Lys838Ter)
c.2485A>T (p.Lys829Ter)
7g.150948474T>CCA369853701KCNH2n.3495A>G
c.2662A>G (p.Lys888Glu)
c.1642A>G (p.Lys548Glu)
c.2362A>G (p.Lys788Glu)
c.2512A>G (p.Lys838Glu)
c.2485A>G (p.Lys829Glu)
7g.150948474T>GCA369853703KCNH2n.3495A>C
c.2662A>C (p.Lys888Gln)
c.1642A>C (p.Lys548Gln)
c.2362A>C (p.Lys788Gln)
c.2512A>C (p.Lys838Gln)
c.2485A>C (p.Lys829Gln)
gnomAD v4
7g.150948475G>ACA458644984KCNH2n.3494C>T
c.2661C>T (p.Arg887=)
c.1641C>T (p.Arg547=)
c.2361C>T (p.Arg787=)
c.2511C>T (p.Arg837=)
c.2484C>T (p.Arg828=)
ClinVar dbSNP
7g.150948475G>CCA458644985KCNH2n.3494C>G
c.2661C>G (p.Arg887=)
c.1641C>G (p.Arg547=)
c.2361C>G (p.Arg787=)
c.2511C>G (p.Arg837=)
c.2484C>G (p.Arg828=)
dbSNP gnomAD v4
7g.150948475G=CA1752431374KCNH2n.3494C=
c.2661C= (p.Arg887=)
c.1641C= (p.Arg547=)
c.2361C= (p.Arg787=)
c.2511C= (p.Arg837=)
c.2484C= (p.Arg828=)
7g.150948475G>TCA458644986KCNH2n.3494C>A
c.2661C>A (p.Arg887=)
c.1641C>A (p.Arg547=)
c.2361C>A (p.Arg787=)
c.2511C>A (p.Arg837=)
c.2484C>A (p.Arg828=)
ClinVar gnomAD v4
7g.150948476delCA2695208814KCNH2n.3493del
c.2660del (p.Arg887ProfsTer?)
c.1640del (p.Arg547ProfsTer?)
c.2360del (p.Arg787ProfsTer?)
c.2510del (p.Arg837ProfsTer?)
c.2483del (p.Arg828ProfsTer?)
7g.150948476C>ACA369853704KCNH2n.3493G>T
c.2660G>T (p.Arg887Leu)
c.1640G>T (p.Arg547Leu)
c.2360G>T (p.Arg787Leu)
c.2510G>T (p.Arg837Leu)
c.2483G>T (p.Arg828Leu)
ClinVar dbSNP gnomAD v4
7g.150948476C=CA1752431375KCNH2n.3493G=
c.2660G= (p.Arg887=)
c.1640G= (p.Arg547=)
c.2360G= (p.Arg787=)
c.2510G= (p.Arg837=)
c.2483G= (p.Arg828=)
7g.150948476C>GCA369853705KCNH2n.3493G>C
c.2660G>C (p.Arg887Pro)
c.1640G>C (p.Arg547Pro)
c.2360G>C (p.Arg787Pro)
c.2510G>C (p.Arg837Pro)
c.2483G>C (p.Arg828Pro)
dbSNP gnomAD v4
7g.150948476C>TCA007095KCNH2n.3493G>A
c.2660G>A (p.Arg887His)
c.1640G>A (p.Arg547His)
c.2360G>A (p.Arg787His)
c.2510G>A (p.Arg837His)
c.2483G>A (p.Arg828His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948476_150948485delinsCGCTTGCGTTCA1752431380KCNH2n.3484_3493delinsAACGCAAGCG
c.2651_2660delinsAACGCAAGCG (p.Gln884=)
c.1631_1640delinsAACGCAAGCG (p.Gln544=)
c.2351_2360delinsAACGCAAGCG (p.Gln784=)
c.2501_2510delinsAACGCAAGCG (p.Gln834=)
c.2474_2483delinsAACGCAAGCG (p.Gln825=)
7g.150948477G>ACA007085KCNH2n.3492C>T
c.2659C>T (p.Arg887Cys)
c.1639C>T (p.Arg547Cys)
c.2359C>T (p.Arg787Cys)
c.2509C>T (p.Arg837Cys)
c.2482C>T (p.Arg828Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948477G>CCA033782KCNH2n.3492C>G
c.2659C>G (p.Arg887Gly)
c.1639C>G (p.Arg547Gly)
c.2359C>G (p.Arg787Gly)
c.2509C>G (p.Arg837Gly)
c.2482C>G (p.Arg828Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948477G=CA1752431383KCNH2n.3492C=
c.2659C= (p.Arg887=)
c.1639C= (p.Arg547=)
c.2359C= (p.Arg787=)
c.2509C= (p.Arg837=)
c.2482C= (p.Arg828=)
7g.150948477G>TCA033758KCNH2n.3492C>A
c.2659C>A (p.Arg887Ser)
c.1639C>A (p.Arg547Ser)
c.2359C>A (p.Arg787Ser)
c.2509C>A (p.Arg837Ser)
c.2482C>A (p.Arg828Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948477_150948478delinsTTCA2739278690KCNH2n.3491_3492delinsAA
c.2658_2659delinsAA (p.Arg887Ser)
c.1638_1639delinsAA (p.Arg547Ser)
c.2358_2359delinsAA (p.Arg787Ser)
c.2508_2509delinsAA (p.Arg837Ser)
c.2481_2482delinsAA (p.Arg828Ser)
ClinVar
7g.150948477_150948481dupCA2695208815KCNH2n.3488_3492dup
c.2655_2659dup (p.Arg887ProfsTer?)
c.1635_1639dup (p.Arg547ProfsTer?)
c.2355_2359dup (p.Arg787ProfsTer?)
c.2505_2509dup (p.Arg837ProfsTer?)
c.2478_2482dup (p.Arg828ProfsTer?)
7g.150948479_150948482dupCA2685600494KCNH2n.3489_3492dup
c.2656_2659dup (p.Arg887GlnfsTer?)
c.1636_1639dup (p.Arg547GlnfsTer?)
c.2356_2359dup (p.Arg787GlnfsTer?)
c.2506_2509dup (p.Arg837GlnfsTer?)
c.2479_2482dup (p.Arg828GlnfsTer?)
gnomAD v4
7g.150948479_150948487delCA033618KCNH2n.3484_3492del
c.2651_2659del (p.Gln884_Lys886del)
c.1631_1639del (p.Gln544_Lys546del)
c.2351_2359del (p.Gln784_Lys786del)
c.2501_2509del (p.Gln834_Lys836del)
c.2474_2482del (p.Gln825_Lys827del)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948477_150948489delCA2695208816KCNH2n.3480_3492del
c.2647_2659del (p.Arg883AlafsTer?)
c.1627_1639del (p.Arg543AlafsTer?)
c.2347_2359del (p.Arg783AlafsTer?)
c.2497_2509del (p.Arg833AlafsTer?)
c.2470_2482del (p.Arg824AlafsTer?)
7g.150948478C>ACA369853710KCNH2n.3491G>T
c.2658G>T (p.Lys886Asn)
c.1638G>T (p.Lys546Asn)
c.2358G>T (p.Lys786Asn)
c.2508G>T (p.Lys836Asn)
c.2481G>T (p.Lys827Asn)
7g.150948478C=CA1752431388KCNH2n.3491G=
c.2658G= (p.Lys886=)
c.1638G= (p.Lys546=)
c.2358G= (p.Lys786=)
c.2508G= (p.Lys836=)
c.2481G= (p.Lys827=)
7g.150948478C>GCA369853712KCNH2n.3491G>C
c.2658G>C (p.Lys886Asn)
c.1638G>C (p.Lys546Asn)
c.2358G>C (p.Lys786Asn)
c.2508G>C (p.Lys836Asn)
c.2481G>C (p.Lys827Asn)
ClinVar
7g.150948478C>TCA033734KCNH2n.3491G>A
c.2658G>A (p.Lys886=)
c.1638G>A (p.Lys546=)
c.2358G>A (p.Lys786=)
c.2508G>A (p.Lys836=)
c.2481G>A (p.Lys827=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948478_150948483delinsCTTGCGCA1752431389KCNH2n.3486_3491delinsCGCAAG
c.2653_2658delinsCGCAAG (p.Arg885=)
c.1633_1638delinsCGCAAG (p.Arg545=)
c.2353_2358delinsCGCAAG (p.Arg785=)
c.2503_2508delinsCGCAAG (p.Arg835=)
c.2476_2481delinsCGCAAG (p.Arg826=)
7g.150948479T>ACA369853714KCNH2n.3490A>T
c.2657A>T (p.Lys886Met)
c.1637A>T (p.Lys546Met)
c.2357A>T (p.Lys786Met)
c.2507A>T (p.Lys836Met)
c.2480A>T (p.Lys827Met)
7g.150948479T>CCA369853716KCNH2n.3490A>G
c.2657A>G (p.Lys886Arg)
c.1637A>G (p.Lys546Arg)
c.2357A>G (p.Lys786Arg)
c.2507A>G (p.Lys836Arg)
c.2480A>G (p.Lys827Arg)
7g.150948479T>GCA369853717KCNH2n.3490A>C
c.2657A>C (p.Lys886Thr)
c.1637A>C (p.Lys546Thr)
c.2357A>C (p.Lys786Thr)
c.2507A>C (p.Lys836Thr)
c.2480A>C (p.Lys827Thr)
7g.150948480dupCA658797038KCNH2n.3490dup
c.2657dup (p.Arg887AlafsTer?)
c.1637dup (p.Arg547AlafsTer?)
c.2357dup (p.Arg787AlafsTer?)
c.2507dup (p.Arg837AlafsTer?)
c.2480dup (p.Arg828AlafsTer?)
ClinVar dbSNP
7g.150948480_150948485dupCA2685600497KCNH2n.3485_3490dup
c.2652_2657dup (p.Lys886_Arg887insArgLys)
c.1632_1637dup (p.Lys546_Arg547insArgLys)
c.2352_2357dup (p.Lys786_Arg787insArgLys)
c.2502_2507dup (p.Lys836_Arg837insArgLys)
c.2475_2480dup (p.Lys827_Arg828insArgLys)
gnomAD v4
7g.150948483_150948487delCA1139660338KCNH2n.3486_3490del
c.2653_2657del (p.Arg885AlafsTer?)
c.1633_1637del (p.Arg545AlafsTer?)
c.2353_2357del (p.Arg785AlafsTer?)
c.2503_2507del (p.Arg835AlafsTer?)
c.2476_2480del (p.Arg826AlafsTer?)
ClinVar dbSNP
7g.150948479_150948491delinsTTGCGTTGCCGACCA1752431396KCNH2n.3478_3490delinsGTCGGCAACGCAA
c.2645_2657delinsGTCGGCAACGCAA (p.Ser882=)
c.1625_1637delinsGTCGGCAACGCAA (p.Ser542=)
c.2345_2357delinsGTCGGCAACGCAA (p.Ser782=)
c.2495_2507delinsGTCGGCAACGCAA (p.Ser832=)
c.2468_2480delinsGTCGGCAACGCAA (p.Ser823=)
7g.150948480T>ACA369853719KCNH2n.3489A>T
c.2656A>T (p.Lys886Ter)
c.1636A>T (p.Lys546Ter)
c.2356A>T (p.Lys786Ter)
c.2506A>T (p.Lys836Ter)
c.2479A>T (p.Lys827Ter)
7g.150948480T>CCA369853720KCNH2n.3489A>G
c.2656A>G (p.Lys886Glu)
c.1636A>G (p.Lys546Glu)
c.2356A>G (p.Lys786Glu)
c.2506A>G (p.Lys836Glu)
c.2479A>G (p.Lys827Glu)
dbSNP gnomAD v2
7g.150948480T>GCA369853722KCNH2n.3489A>C
c.2656A>C (p.Lys886Gln)
c.1636A>C (p.Lys546Gln)
c.2356A>C (p.Lys786Gln)
c.2506A>C (p.Lys836Gln)
c.2479A>C (p.Lys827Gln)
7g.150948480T=CA1752431400KCNH2n.3489A=
c.2656A= (p.Lys886=)
c.1636A= (p.Lys546=)
c.2356A= (p.Lys786=)
c.2506A= (p.Lys836=)
c.2479A= (p.Lys827=)
7g.150948482_150948493delCA1752431399KCNH2n.3478_3489del
c.2645_2656del (p.Ser882_Arg885del)
c.1625_1636del (p.Ser542_Arg545del)
c.2345_2356del (p.Ser782_Arg785del)
c.2495_2506del (p.Ser832_Arg835del)
c.2468_2479del (p.Ser823_Arg826del)
ClinVar dbSNP gnomAD v4
7g.150948481G>ACA458644988KCNH2n.3488C>T
c.2655C>T (p.Arg885=)
c.1635C>T (p.Arg545=)
c.2355C>T (p.Arg785=)
c.2505C>T (p.Arg835=)
c.2478C>T (p.Arg826=)
7g.150948481G>CCA458644989KCNH2n.3488C>G
c.2655C>G (p.Arg885=)
c.1635C>G (p.Arg545=)
c.2355C>G (p.Arg785=)
c.2505C>G (p.Arg835=)
c.2478C>G (p.Arg826=)
7g.150948481G>TCA458644990KCNH2n.3488C>A
c.2655C>A (p.Arg885=)
c.1635C>A (p.Arg545=)
c.2355C>A (p.Arg785=)
c.2505C>A (p.Arg835=)
c.2478C>A (p.Arg826=)
gnomAD v4
7g.150948481_150948483delCA2778425473KCNH2n.3486_3488del
c.2653_2655del (p.Arg885del)
c.1633_1635del (p.Arg545del)
c.2353_2355del (p.Arg785del)
c.2503_2505del (p.Arg835del)
c.2476_2478del (p.Arg826del)
7g.150948481_150948482insACA2579062613KCNH2n.3487_3488insT
c.2654_2655insT (p.Lys886GlnfsTer?)
c.1634_1635insT (p.Lys546GlnfsTer?)
c.2354_2355insT (p.Lys786GlnfsTer?)
c.2504_2505insT (p.Lys836GlnfsTer?)
c.2477_2478insT (p.Lys827GlnfsTer?)
7g.150948482delCA2695208817KCNH2n.3487del
c.2654del (p.Arg885ProfsTer?)
c.1634del (p.Arg545ProfsTer?)
c.2354del (p.Arg785ProfsTer?)
c.2504del (p.Arg835ProfsTer?)
c.2477del (p.Arg826ProfsTer?)
7g.150948482C>ACA369853724KCNH2n.3487G>T
c.2654G>T (p.Arg885Leu)
c.1634G>T (p.Arg545Leu)
c.2354G>T (p.Arg785Leu)
c.2504G>T (p.Arg835Leu)
c.2477G>T (p.Arg826Leu)
7g.150948482C=CA1752431405KCNH2n.3487G=
c.2654G= (p.Arg885=)
c.1634G= (p.Arg545=)
c.2354G= (p.Arg785=)
c.2504G= (p.Arg835=)
c.2477G= (p.Arg826=)
7g.150948482C>GCA033712KCNH2n.3487G>C
c.2654G>C (p.Arg885Pro)
c.1634G>C (p.Arg545Pro)
c.2354G>C (p.Arg785Pro)
c.2504G>C (p.Arg835Pro)
c.2477G>C (p.Arg826Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948482C>TCA033689KCNH2n.3487G>A
c.2654G>A (p.Arg885His)
c.1634G>A (p.Arg545His)
c.2354G>A (p.Arg785His)
c.2504G>A (p.Arg835His)
c.2477G>A (p.Arg826His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150948482_150948485delinsAAGAGCA916084343KCNH2n.3484_3487delinsCTCTT
c.2651_2654delinsCTCTT (p.Gln884ProfsTer?)
c.1631_1634delinsCTCTT (p.Gln544ProfsTer?)
c.2351_2354delinsCTCTT (p.Gln784ProfsTer?)
c.2501_2504delinsCTCTT (p.Gln834ProfsTer?)
c.2474_2477delinsCTCTT (p.Gln825ProfsTer?)
7g.150948484_150948489dupCA2685600500KCNH2n.3482_3487dup
c.2649_2654dup (p.Arg885_Lys886insGlnArg)
c.1629_1634dup (p.Arg545_Lys546insGlnArg)
c.2349_2354dup (p.Arg785_Lys786insGlnArg)
c.2499_2504dup (p.Arg835_Lys836insGlnArg)
c.2472_2477dup (p.Arg826_Lys827insGlnArg)
gnomAD v4
7g.150948483G>ACA007076KCNH2n.3486C>T
c.2653C>T (p.Arg885Cys)
c.1633C>T (p.Arg545Cys)
c.2353C>T (p.Arg785Cys)
c.2503C>T (p.Arg835Cys)
c.2476C>T (p.Arg826Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948483G>CCA369853728KCNH2n.3486C>G
c.2653C>G (p.Arg885Gly)
c.1633C>G (p.Arg545Gly)
c.2353C>G (p.Arg785Gly)
c.2503C>G (p.Arg835Gly)
c.2476C>G (p.Arg826Gly)
7g.150948483G=CA1752431413KCNH2n.3486C=
c.2653C= (p.Arg885=)
c.1633C= (p.Arg545=)
c.2353C= (p.Arg785=)
c.2503C= (p.Arg835=)
c.2476C= (p.Arg826=)
7g.150948483G>TCA033654KCNH2n.3486C>A
c.2653C>A (p.Arg885Ser)
c.1633C>A (p.Arg545Ser)
c.2353C>A (p.Arg785Ser)
c.2503C>A (p.Arg835Ser)
c.2476C>A (p.Arg826Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948484T>ACA369853730KCNH2n.3485A>T
c.2652A>T (p.Gln884His)
c.1632A>T (p.Gln544His)
c.2352A>T (p.Gln784His)
c.2502A>T (p.Gln834His)
c.2475A>T (p.Gln825His)
7g.150948484T>CCA458644991KCNH2n.3485A>G
c.2652A>G (p.Gln884=)
c.1632A>G (p.Gln544=)
c.2352A>G (p.Gln784=)
c.2502A>G (p.Gln834=)
c.2475A>G (p.Gln825=)
dbSNP gnomAD v2 gnomAD v4
7g.150948484T>GCA369853731KCNH2n.3485A>C
c.2652A>C (p.Gln884His)
c.1632A>C (p.Gln544His)
c.2352A>C (p.Gln784His)
c.2502A>C (p.Gln834His)
c.2475A>C (p.Gln825His)
7g.150948484T=CA1752431414KCNH2n.3485A=
c.2652A= (p.Gln884=)
c.1632A= (p.Gln544=)
c.2352A= (p.Gln784=)
c.2502A= (p.Gln834=)
c.2475A= (p.Gln825=)
7g.150948484_150948485delCA2778425489KCNH2n.3484_3485del
c.2651_2652del (p.Gln884ProfsTer?)
c.1631_1632del (p.Gln544ProfsTer?)
c.2351_2352del (p.Gln784ProfsTer?)
c.2501_2502del (p.Gln834ProfsTer?)
c.2474_2475del (p.Gln825ProfsTer?)
7g.150948484_150948488dupCA2697557667KCNH2n.3481_3485dup
c.2648_2652dup (p.Arg885GlyfsTer?)
c.1628_1632dup (p.Arg545GlyfsTer?)
c.2348_2352dup (p.Arg785GlyfsTer?)
c.2498_2502dup (p.Arg835GlyfsTer?)
c.2471_2475dup (p.Arg826GlyfsTer?)
ClinVar
7g.150948485T>ACA369853733KCNH2n.3484A>T
c.2651A>T (p.Gln884Leu)
c.1631A>T (p.Gln544Leu)
c.2351A>T (p.Gln784Leu)
c.2501A>T (p.Gln834Leu)
c.2474A>T (p.Gln825Leu)
7g.150948485T>CCA369853736KCNH2n.3484A>G
c.2651A>G (p.Gln884Arg)
c.1631A>G (p.Gln544Arg)
c.2351A>G (p.Gln784Arg)
c.2501A>G (p.Gln834Arg)
c.2474A>G (p.Gln825Arg)
ClinVar dbSNP
7g.150948485T>GCA369853735KCNH2n.3484A>C
c.2651A>C (p.Gln884Pro)
c.1631A>C (p.Gln544Pro)
c.2351A>C (p.Gln784Pro)
c.2501A>C (p.Gln834Pro)
c.2474A>C (p.Gln825Pro)
7g.150948485T=CA1752431415KCNH2n.3484A=
c.2651A= (p.Gln884=)
c.1631A= (p.Gln544=)
c.2351A= (p.Gln784=)
c.2501A= (p.Gln834=)
c.2474A= (p.Gln825=)
7g.150948485_150948486insAATCA2778425491KCNH2n.3484_3485insTTA
c.2651_2652insTTA (p.Gln884HisfsTer2)
c.1631_1632insTTA (p.Gln544HisfsTer2)
c.2351_2352insTTA (p.Gln784HisfsTer2)
c.2501_2502insTTA (p.Gln834HisfsTer2)
c.2474_2475insTTA (p.Gln825HisfsTer2)
7g.150948486G>ACA369853738KCNH2n.3483C>T
c.2650C>T (p.Gln884Ter)
c.1630C>T (p.Gln544Ter)
c.2350C>T (p.Gln784Ter)
c.2500C>T (p.Gln834Ter)
c.2473C>T (p.Gln825Ter)
gnomAD v4
7g.150948486G>CCA369853741KCNH2n.3483C>G
c.2650C>G (p.Gln884Glu)
c.1630C>G (p.Gln544Glu)
c.2350C>G (p.Gln784Glu)
c.2500C>G (p.Gln834Glu)
c.2473C>G (p.Gln825Glu)
7g.150948486G>TCA369853740KCNH2n.3483C>A
c.2650C>A (p.Gln884Lys)
c.1630C>A (p.Gln544Lys)
c.2350C>A (p.Gln784Lys)
c.2500C>A (p.Gln834Lys)
c.2473C>A (p.Gln825Lys)
7g.150948486_150948487insATCA2778425494KCNH2n.3482_3483insAT
c.2649_2650insAT (p.Gln884IlefsTer?)
c.1629_1630insAT (p.Gln544IlefsTer?)
c.2349_2350insAT (p.Gln784IlefsTer?)
c.2499_2500insAT (p.Gln834IlefsTer?)
c.2472_2473insAT (p.Gln825IlefsTer?)
7g.150948487C>ACA458644993KCNH2n.3482G>T
c.2649G>T (p.Arg883=)
c.1629G>T (p.Arg543=)
c.2349G>T (p.Arg783=)
c.2499G>T (p.Arg833=)
c.2472G>T (p.Arg824=)
7g.150948487C=CA1752431423KCNH2n.3482G=
c.2649G= (p.Arg883=)
c.1629G= (p.Arg543=)
c.2349G= (p.Arg783=)
c.2499G= (p.Arg833=)
c.2472G= (p.Arg824=)
7g.150948487C>GCA458644994KCNH2n.3482G>C
c.2649G>C (p.Arg883=)
c.1629G>C (p.Arg543=)
c.2349G>C (p.Arg783=)
c.2499G>C (p.Arg833=)
c.2472G>C (p.Arg824=)
7g.150948487C>TCA458644995KCNH2n.3482G>A
c.2649G>A (p.Arg883=)
c.1629G>A (p.Arg543=)
c.2349G>A (p.Arg783=)
c.2499G>A (p.Arg833=)
c.2472G>A (p.Arg824=)
dbSNP gnomAD v2 gnomAD v4
7g.150948487_150948490delinsCCGACA1752431424KCNH2n.3479_3482delinsTCGG
c.2646_2649delinsTCGG (p.Ser882=)
c.1626_1629delinsTCGG (p.Ser542=)
c.2346_2349delinsTCGG (p.Ser782=)
c.2496_2499delinsTCGG (p.Ser832=)
c.2469_2472delinsTCGG (p.Ser823=)
7g.150948488_150948498delCA658761324KCNH2n.3472_3482del
c.2639_2649del (p.Gly880AlafsTer?)
c.1619_1629del (p.Gly540AlafsTer?)
c.2339_2349del (p.Gly780AlafsTer?)
c.2489_2499del (p.Gly830AlafsTer?)
c.2462_2472del (p.Gly821AlafsTer?)
7g.150948488C>ACA369853743KCNH2n.3481G>T
c.2648G>T (p.Arg883Leu)
c.1628G>T (p.Arg543Leu)
c.2348G>T (p.Arg783Leu)
c.2498G>T (p.Arg833Leu)
c.2471G>T (p.Arg824Leu)
7g.150948488C=CA1752431425KCNH2n.3481G=
c.2648G= (p.Arg883=)
c.1628G= (p.Arg543=)
c.2348G= (p.Arg783=)
c.2498G= (p.Arg833=)
c.2471G= (p.Arg824=)
7g.150948488C>GCA369853744KCNH2n.3481G>C
c.2648G>C (p.Arg883Pro)
c.1628G>C (p.Arg543Pro)
c.2348G>C (p.Arg783Pro)
c.2498G>C (p.Arg833Pro)
c.2471G>C (p.Arg824Pro)
gnomAD v4 COSMIC COSMIC
7g.150948488C>TCA033600KCNH2n.3481G>A
c.2648G>A (p.Arg883Gln)
c.1628G>A (p.Arg543Gln)
c.2348G>A (p.Arg783Gln)
c.2498G>A (p.Arg833Gln)
c.2471G>A (p.Arg824Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150948489_150948491delCA1108705052KCNH2n.3479_3481del
c.2646_2648del (p.Ser882del)
c.1626_1628del (p.Ser542del)
c.2346_2348del (p.Ser782del)
c.2496_2498del (p.Ser832del)
c.2469_2471del (p.Ser823del)
dbSNP gnomAD v3 gnomAD v4
7g.150948489delCA2580077780KCNH2n.3480del
c.2647del (p.Arg883GlyfsTer?)
c.1627del (p.Arg543GlyfsTer?)
c.2347del (p.Arg783GlyfsTer?)
c.2497del (p.Arg833GlyfsTer?)
c.2470del (p.Arg824GlyfsTer?)
ClinVar
7g.150948489G>ACA033587KCNH2n.3480C>T
c.2647C>T (p.Arg883Trp)
c.1627C>T (p.Arg543Trp)
c.2347C>T (p.Arg783Trp)
c.2497C>T (p.Arg833Trp)
c.2470C>T (p.Arg824Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948489G>CCA033575KCNH2n.3480C>G
c.2647C>G (p.Arg883Gly)
c.1627C>G (p.Arg543Gly)
c.2347C>G (p.Arg783Gly)
c.2497C>G (p.Arg833Gly)
c.2470C>G (p.Arg824Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948489G=CA1752431430KCNH2n.3480C=
c.2647C= (p.Arg883=)
c.1627C= (p.Arg543=)
c.2347C= (p.Arg783=)
c.2497C= (p.Arg833=)
c.2470C= (p.Arg824=)
7g.150948489G>TCA458644998KCNH2n.3480C>A
c.2647C>A (p.Arg883=)
c.1627C>A (p.Arg543=)
c.2347C>A (p.Arg783=)
c.2497C>A (p.Arg833=)
c.2470C>A (p.Arg824=)
ClinVar dbSNP gnomAD v4
7g.150948489_150948490delCA2685600508KCNH2n.3479_3480del
c.2646_2647del (p.Ser882ArgfsTer?)
c.1626_1627del (p.Ser542ArgfsTer?)
c.2346_2347del (p.Ser782ArgfsTer?)
c.2496_2497del (p.Ser832ArgfsTer?)
c.2469_2470del (p.Ser823ArgfsTer?)
gnomAD v4
7g.150948489_150948490insGCGACCCA2778425505KCNH2n.3479_3480insGGTCGC
c.2646_2647insGGTCGC (p.Ser882_Arg883insGlyArg)
c.1626_1627insGGTCGC (p.Ser542_Arg543insGlyArg)
c.2346_2347insGGTCGC (p.Ser782_Arg783insGlyArg)
c.2496_2497insGGTCGC (p.Ser832_Arg833insGlyArg)
c.2469_2470insGGTCGC (p.Ser823_Arg824insGlyArg)
7g.150948490A>CCA369853748KCNH2n.3479T>G
c.2646T>G (p.Ser882Arg)
c.1626T>G (p.Ser542Arg)
c.2346T>G (p.Ser782Arg)
c.2496T>G (p.Ser832Arg)
c.2469T>G (p.Ser823Arg)
7g.150948490A>GCA458645000KCNH2n.3479T>C
c.2646T>C (p.Ser882=)
c.1626T>C (p.Ser542=)
c.2346T>C (p.Ser782=)
c.2496T>C (p.Ser832=)
c.2469T>C (p.Ser823=)
7g.150948490A>TCA369853749KCNH2n.3479T>A
c.2646T>A (p.Ser882Arg)
c.1626T>A (p.Ser542Arg)
c.2346T>A (p.Ser782Arg)
c.2496T>A (p.Ser832Arg)
c.2469T>A (p.Ser823Arg)
7g.150948490_150948495delCA2685600511KCNH2n.3474_3479del
c.2641_2646del (p.Phe881_Ser882del)
c.1621_1626del (p.Phe541_Ser542del)
c.2341_2346del (p.Phe781_Ser782del)
c.2491_2496del (p.Phe831_Ser832del)
c.2464_2469del (p.Phe822_Ser823del)
ClinVar gnomAD v4
7g.150948491C>ACA369853751KCNH2n.3478G>T
c.2645G>T (p.Ser882Ile)
c.1625G>T (p.Ser542Ile)
c.2345G>T (p.Ser782Ile)
c.2495G>T (p.Ser832Ile)
c.2468G>T (p.Ser823Ile)
gnomAD v4
7g.150948491C>GCA369853753KCNH2n.3478G>C
c.2645G>C (p.Ser882Thr)
c.1625G>C (p.Ser542Thr)
c.2345G>C (p.Ser782Thr)
c.2495G>C (p.Ser832Thr)
c.2468G>C (p.Ser823Thr)
7g.150948491C>TCA369853754KCNH2n.3478G>A
c.2645G>A (p.Ser882Asn)
c.1625G>A (p.Ser542Asn)
c.2345G>A (p.Ser782Asn)
c.2495G>A (p.Ser832Asn)
c.2468G>A (p.Ser823Asn)
7g.150948492T>ACA369853756KCNH2n.3477A>T
c.2644A>T (p.Ser882Cys)
c.1624A>T (p.Ser542Cys)
c.2344A>T (p.Ser782Cys)
c.2494A>T (p.Ser832Cys)
c.2467A>T (p.Ser823Cys)
7g.150948492T>CCA369853758KCNH2n.3477A>G
c.2644A>G (p.Ser882Gly)
c.1624A>G (p.Ser542Gly)
c.2344A>G (p.Ser782Gly)
c.2494A>G (p.Ser832Gly)
c.2467A>G (p.Ser823Gly)
dbSNP gnomAD v2 gnomAD v4
7g.150948492T>GCA369853759KCNH2n.3477A>C
c.2644A>C (p.Ser882Arg)
c.1624A>C (p.Ser542Arg)
c.2344A>C (p.Ser782Arg)
c.2494A>C (p.Ser832Arg)
c.2467A>C (p.Ser823Arg)
7g.150948492T=CA1752431433KCNH2n.3477A=
c.2644A= (p.Ser882=)
c.1624A= (p.Ser542=)
c.2344A= (p.Ser782=)
c.2494A= (p.Ser832=)
c.2467A= (p.Ser823=)
7g.150948492_150948502delinsTGAAGCCACCCCA1752431432KCNH2n.3467_3477delinsGGGTGGCTTCA
c.2634_2644delinsGGGTGGCTTCA (p.Glu878=)
c.1614_1624delinsGGGTGGCTTCA (p.Glu538=)
c.2334_2344delinsGGGTGGCTTCA (p.Glu778=)
c.2484_2494delinsGGGTGGCTTCA (p.Glu828=)
c.2457_2467delinsGGGTGGCTTCA (p.Glu819=)
7g.150948493G>ACA458645001KCNH2n.3476C>T
c.2643C>T (p.Phe881=)
c.1623C>T (p.Phe541=)
c.2343C>T (p.Phe781=)
c.2493C>T (p.Phe831=)
c.2466C>T (p.Phe822=)
7g.150948493G>CCA369853761KCNH2n.3476C>G
c.2643C>G (p.Phe881Leu)
c.1623C>G (p.Phe541Leu)
c.2343C>G (p.Phe781Leu)
c.2493C>G (p.Phe831Leu)
c.2466C>G (p.Phe822Leu)
gnomAD v4
7g.150948493G>TCA369853762KCNH2n.3476C>A
c.2643C>A (p.Phe881Leu)
c.1623C>A (p.Phe541Leu)
c.2343C>A (p.Phe781Leu)
c.2493C>A (p.Phe831Leu)
c.2466C>A (p.Phe822Leu)
gnomAD v4
7g.150948493_150948502delCA916080385KCNH2n.3467_3476del
c.2634_2643del (p.Gly879ValfsTer?)
c.1614_1623del (p.Gly539ValfsTer?)
c.2334_2343del (p.Gly779ValfsTer?)
c.2484_2493del (p.Gly829ValfsTer?)
c.2457_2466del (p.Gly820ValfsTer?)
ClinVar dbSNP
7g.150948494A>CCA369853764KCNH2n.3475T>G
c.2642T>G (p.Phe881Cys)
c.1622T>G (p.Phe541Cys)
c.2342T>G (p.Phe781Cys)
c.2492T>G (p.Phe831Cys)
c.2465T>G (p.Phe822Cys)
7g.150948494A>GCA369853766KCNH2n.3475T>C
c.2642T>C (p.Phe881Ser)
c.1622T>C (p.Phe541Ser)
c.2342T>C (p.Phe781Ser)
c.2492T>C (p.Phe831Ser)
c.2465T>C (p.Phe822Ser)
7g.150948494A>TCA369853768KCNH2n.3475T>A
c.2642T>A (p.Phe881Tyr)
c.1622T>A (p.Phe541Tyr)
c.2342T>A (p.Phe781Tyr)
c.2492T>A (p.Phe831Tyr)
c.2465T>A (p.Phe822Tyr)
7g.150948494_150948495insGCA2778425513KCNH2n.3474_3475insC
c.2641_2642insC (p.Phe881SerfsTer?)
c.1621_1622insC (p.Phe541SerfsTer?)
c.2341_2342insC (p.Phe781SerfsTer?)
c.2491_2492insC (p.Phe831SerfsTer?)
c.2464_2465insC (p.Phe822SerfsTer?)
7g.150948495A=CA1752431440KCNH2n.3474T=
c.2641T= (p.Phe881=)
c.1621T= (p.Phe541=)
c.2341T= (p.Phe781=)
c.2491T= (p.Phe831=)
c.2464T= (p.Phe822=)
7g.150948495A>CCA369853769KCNH2n.3474T>G
c.2641T>G (p.Phe881Val)
c.1621T>G (p.Phe541Val)
c.2341T>G (p.Phe781Val)
c.2491T>G (p.Phe831Val)
c.2464T>G (p.Phe822Val)
gnomAD v4
7g.150948495A>GCA369853770KCNH2n.3474T>C
c.2641T>C (p.Phe881Leu)
c.1621T>C (p.Phe541Leu)
c.2341T>C (p.Phe781Leu)
c.2491T>C (p.Phe831Leu)
c.2464T>C (p.Phe822Leu)
7g.150948495A>TCA369853771KCNH2n.3474T>A
c.2641T>A (p.Phe881Ile)
c.1621T>A (p.Phe541Ile)
c.2341T>A (p.Phe781Ile)
c.2491T>A (p.Phe831Ile)
c.2464T>A (p.Phe822Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948496G>ACA458645003KCNH2n.3473C>T
c.2640C>T (p.Gly880=)
c.1620C>T (p.Gly540=)
c.2340C>T (p.Gly780=)
c.2490C>T (p.Gly830=)
c.2463C>T (p.Gly821=)
gnomAD v4
7g.150948496G>CCA458645004KCNH2n.3473C>G
c.2640C>G (p.Gly880=)
c.1620C>G (p.Gly540=)
c.2340C>G (p.Gly780=)
c.2490C>G (p.Gly830=)
c.2463C>G (p.Gly821=)
7g.150948496G=CA1752431444KCNH2n.3473C=
c.2640C= (p.Gly880=)
c.1620C= (p.Gly540=)
c.2340C= (p.Gly780=)
c.2490C= (p.Gly830=)
c.2463C= (p.Gly821=)
7g.150948496G>TCA458645005KCNH2n.3473C>A
c.2640C>A (p.Gly880=)
c.1620C>A (p.Gly540=)
c.2340C>A (p.Gly780=)
c.2490C>A (p.Gly830=)
c.2463C>A (p.Gly821=)
dbSNP gnomAD v3 gnomAD v4
7g.150948497C>ACA369853772KCNH2n.3472G>T
c.2639G>T (p.Gly880Val)
c.1619G>T (p.Gly540Val)
c.2339G>T (p.Gly780Val)
c.2489G>T (p.Gly830Val)
c.2462G>T (p.Gly821Val)
7g.150948497C=CA1752431448KCNH2n.3472G=
c.2639G= (p.Gly880=)
c.1619G= (p.Gly540=)
c.2339G= (p.Gly780=)
c.2489G= (p.Gly830=)
c.2462G= (p.Gly821=)
7g.150948497C>GCA369853774KCNH2n.3472G>C
c.2639G>C (p.Gly880Ala)
c.1619G>C (p.Gly540Ala)
c.2339G>C (p.Gly780Ala)
c.2489G>C (p.Gly830Ala)
c.2462G>C (p.Gly821Ala)
7g.150948497C>TCA369853775KCNH2n.3472G>A
c.2639G>A (p.Gly880Asp)
c.1619G>A (p.Gly540Asp)
c.2339G>A (p.Gly780Asp)
c.2489G>A (p.Gly830Asp)
c.2462G>A (p.Gly821Asp)
ClinVar dbSNP gnomAD v4
7g.150948497_150948498insTACA2778425519KCNH2n.3471_3472insTA
c.2638_2639insTA (p.Gly880ValfsTer?)
c.1618_1619insTA (p.Gly540ValfsTer?)
c.2338_2339insTA (p.Gly780ValfsTer?)
c.2488_2489insTA (p.Gly830ValfsTer?)
c.2461_2462insTA (p.Gly821ValfsTer?)
7g.150948498C>ACA369853778KCNH2n.3471G>T
c.2638G>T (p.Gly880Cys)
c.1618G>T (p.Gly540Cys)
c.2338G>T (p.Gly780Cys)
c.2488G>T (p.Gly830Cys)
c.2461G>T (p.Gly821Cys)
7g.150948498C>GCA369853780KCNH2n.3471G>C
c.2638G>C (p.Gly880Arg)
c.1618G>C (p.Gly540Arg)
c.2338G>C (p.Gly780Arg)
c.2488G>C (p.Gly830Arg)
c.2461G>C (p.Gly821Arg)
7g.150948498C>TCA369853781KCNH2n.3471G>A
c.2638G>A (p.Gly880Ser)
c.1618G>A (p.Gly540Ser)
c.2338G>A (p.Gly780Ser)
c.2488G>A (p.Gly830Ser)
c.2461G>A (p.Gly821Ser)
gnomAD v4
7g.150948499_150948500delCA2695208818KCNH2n.3470_3471del
c.2637_2638del (p.Gly880LeufsTer?)
c.1617_1618del (p.Gly540LeufsTer?)
c.2337_2338del (p.Gly780LeufsTer?)
c.2487_2488del (p.Gly830LeufsTer?)
c.2460_2461del (p.Gly821LeufsTer?)
7g.150948499A>CCA458645006KCNH2n.3470T>G
c.2637T>G (p.Gly879=)
c.1617T>G (p.Gly539=)
c.2337T>G (p.Gly779=)
c.2487T>G (p.Gly829=)
c.2460T>G (p.Gly820=)
7g.150948499A>GCA458645009KCNH2n.3470T>C
c.2637T>C (p.Gly879=)
c.1617T>C (p.Gly539=)
c.2337T>C (p.Gly779=)
c.2487T>C (p.Gly829=)
c.2460T>C (p.Gly820=)
7g.150948499A>TCA458645007KCNH2n.3470T>A
c.2637T>A (p.Gly879=)
c.1617T>A (p.Gly539=)
c.2337T>A (p.Gly779=)
c.2487T>A (p.Gly829=)
c.2460T>A (p.Gly820=)
7g.150948500C>ACA369853787KCNH2n.3469G>T
c.2636G>T (p.Gly879Val)
c.1616G>T (p.Gly539Val)
c.2336G>T (p.Gly779Val)
c.2486G>T (p.Gly829Val)
c.2459G>T (p.Gly820Val)
7g.150948500C>GCA369853785KCNH2n.3469G>C
c.2636G>C (p.Gly879Ala)
c.1616G>C (p.Gly539Ala)
c.2336G>C (p.Gly779Ala)
c.2486G>C (p.Gly829Ala)
c.2459G>C (p.Gly820Ala)
7g.150948500C>TCA369853783KCNH2n.3469G>A
c.2636G>A (p.Gly879Asp)
c.1616G>A (p.Gly539Asp)
c.2336G>A (p.Gly779Asp)
c.2486G>A (p.Gly829Asp)
c.2459G>A (p.Gly820Asp)
ClinVar dbSNP
7g.150948501C>ACA369853792KCNH2n.3468G>T
c.2635G>T (p.Gly879Cys)
c.1615G>T (p.Gly539Cys)
c.2335G>T (p.Gly779Cys)
c.2485G>T (p.Gly829Cys)
c.2458G>T (p.Gly820Cys)
7g.150948501C=CA1752431453KCNH2n.3468G=
c.2635G= (p.Gly879=)
c.1615G= (p.Gly539=)
c.2335G= (p.Gly779=)
c.2485G= (p.Gly829=)
c.2458G= (p.Gly820=)
7g.150948501C>GCA007067KCNH2n.3468G>C
c.2635G>C (p.Gly879Arg)
c.1615G>C (p.Gly539Arg)
c.2335G>C (p.Gly779Arg)
c.2485G>C (p.Gly829Arg)
c.2458G>C (p.Gly820Arg)
ClinVar dbSNP
7g.150948501C>TCA369853790KCNH2n.3468G>A
c.2635G>A (p.Gly879Ser)
c.1615G>A (p.Gly539Ser)
c.2335G>A (p.Gly779Ser)
c.2485G>A (p.Gly829Ser)
c.2458G>A (p.Gly820Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948502C>ACA369853794KCNH2n.3467G>T
c.2634G>T (p.Glu878Asp)
c.1614G>T (p.Glu538Asp)
c.2334G>T (p.Glu778Asp)
c.2484G>T (p.Glu828Asp)
c.2457G>T (p.Glu819Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948502C=CA1752431455KCNH2n.3467G=
c.2634G= (p.Glu878=)
c.1614G= (p.Glu538=)
c.2334G= (p.Glu778=)
c.2484G= (p.Glu828=)
c.2457G= (p.Glu819=)
7g.150948502C>GCA369853795KCNH2n.3467G>C
c.2634G>C (p.Glu878Asp)
c.1614G>C (p.Glu538Asp)
c.2334G>C (p.Glu778Asp)
c.2484G>C (p.Glu828Asp)
c.2457G>C (p.Glu819Asp)
7g.150948502C>TCA458645010KCNH2n.3467G>A
c.2634G>A (p.Glu878=)
c.1614G>A (p.Glu538=)
c.2334G>A (p.Glu778=)
c.2484G>A (p.Glu828=)
c.2457G>A (p.Glu819=)
ClinVar dbSNP gnomAD v4
7g.150948503T>ACA369853797KCNH2n.3466A>T
c.2633A>T (p.Glu878Val)
c.1613A>T (p.Glu538Val)
c.2333A>T (p.Glu778Val)
c.2483A>T (p.Glu828Val)
c.2456A>T (p.Glu819Val)
7g.150948503T>CCA369853799KCNH2n.3466A>G
c.2633A>G (p.Glu878Gly)
c.1613A>G (p.Glu538Gly)
c.2333A>G (p.Glu778Gly)
c.2483A>G (p.Glu828Gly)
c.2456A>G (p.Glu819Gly)
7g.150948503T>GCA369853801KCNH2n.3466A>C
c.2633A>C (p.Glu878Ala)
c.1613A>C (p.Glu538Ala)
c.2333A>C (p.Glu778Ala)
c.2483A>C (p.Glu828Ala)
c.2456A>C (p.Glu819Ala)
7g.150948504C>ACA369853803KCNH2n.3465G>T
c.2632G>T (p.Glu878Ter)
c.1612G>T (p.Glu538Ter)
c.2332G>T (p.Glu778Ter)
c.2482G>T (p.Glu828Ter)
c.2455G>T (p.Glu819Ter)
7g.150948504C>GCA369853804KCNH2n.3465G>C
c.2632G>C (p.Glu878Gln)
c.1612G>C (p.Glu538Gln)
c.2332G>C (p.Glu778Gln)
c.2482G>C (p.Glu828Gln)
c.2455G>C (p.Glu819Gln)
7g.150948504C>TCA369853807KCNH2n.3465G>A
c.2632G>A (p.Glu878Lys)
c.1612G>A (p.Glu538Lys)
c.2332G>A (p.Glu778Lys)
c.2482G>A (p.Glu828Lys)
c.2455G>A (p.Glu819Lys)
7g.150948505T>ACA369853809KCNH2n.3464A>T
c.2631A>T (p.Leu877Phe)
c.1611A>T (p.Leu537Phe)
c.2331A>T (p.Leu777Phe)
c.2481A>T (p.Leu827Phe)
c.2454A>T (p.Leu818Phe)
7g.150948505T>CCA458645012KCNH2n.3464A>G
c.2631A>G (p.Leu877=)
c.1611A>G (p.Leu537=)
c.2331A>G (p.Leu777=)
c.2481A>G (p.Leu827=)
c.2454A>G (p.Leu818=)
ClinVar dbSNP gnomAD v2
7g.150948505T>GCA369853811KCNH2n.3464A>C
c.2631A>C (p.Leu877Phe)
c.1611A>C (p.Leu537Phe)
c.2331A>C (p.Leu777Phe)
c.2481A>C (p.Leu827Phe)
c.2454A>C (p.Leu818Phe)
7g.150948505T=CA1752431457KCNH2n.3464A=
c.2631A= (p.Leu877=)
c.1611A= (p.Leu537=)
c.2331A= (p.Leu777=)
c.2481A= (p.Leu827=)
c.2454A= (p.Leu818=)
7g.150948506A>CCA369853815KCNH2n.3463T>G
c.2630T>G (p.Leu877Ter)
c.1610T>G (p.Leu537Ter)
c.2330T>G (p.Leu777Ter)
c.2480T>G (p.Leu827Ter)
c.2453T>G (p.Leu818Ter)
7g.150948506A>GCA369853816KCNH2n.3463T>C
c.2630T>C (p.Leu877Ser)
c.1610T>C (p.Leu537Ser)
c.2330T>C (p.Leu777Ser)
c.2480T>C (p.Leu827Ser)
c.2453T>C (p.Leu818Ser)
7g.150948506A>TCA369853813KCNH2n.3463T>A
c.2630T>A (p.Leu877Ter)
c.1610T>A (p.Leu537Ter)
c.2330T>A (p.Leu777Ter)
c.2480T>A (p.Leu827Ter)
c.2453T>A (p.Leu818Ter)
7g.150948507A>CCA369853818KCNH2n.3462T>G
c.2629T>G (p.Leu877Val)
c.1609T>G (p.Leu537Val)
c.2329T>G (p.Leu777Val)
c.2479T>G (p.Leu827Val)
c.2452T>G (p.Leu818Val)
7g.150948507A>GCA458645013KCNH2n.3462T>C
c.2629T>C (p.Leu877=)
c.1609T>C (p.Leu537=)
c.2329T>C (p.Leu777=)
c.2479T>C (p.Leu827=)
c.2452T>C (p.Leu818=)
7g.150948507A>TCA369853819KCNH2n.3462T>A
c.2629T>A (p.Leu877Ile)
c.1609T>A (p.Leu537Ile)
c.2329T>A (p.Leu777Ile)
c.2479T>A (p.Leu827Ile)
c.2452T>A (p.Leu818Ile)
7g.150948508C>ACA369853821KCNH2n.3461G>T
c.2628G>T (p.Glu876Asp)
c.1608G>T (p.Glu536Asp)
c.2328G>T (p.Glu776Asp)
c.2478G>T (p.Glu826Asp)
c.2451G>T (p.Glu817Asp)
7g.150948508C>GCA369853822KCNH2n.3461G>C
c.2628G>C (p.Glu876Asp)
c.1608G>C (p.Glu536Asp)
c.2328G>C (p.Glu776Asp)
c.2478G>C (p.Glu826Asp)
c.2451G>C (p.Glu817Asp)
7g.150948508C>TCA458645014KCNH2n.3461G>A
c.2628G>A (p.Glu876=)
c.1608G>A (p.Glu536=)
c.2328G>A (p.Glu776=)
c.2478G>A (p.Glu826=)
c.2451G>A (p.Glu817=)
ClinVar
7g.150948509T>ACA369853828KCNH2n.3460A>T
c.2627A>T (p.Glu876Val)
c.1607A>T (p.Glu536Val)
c.2327A>T (p.Glu776Val)
c.2477A>T (p.Glu826Val)
c.2450A>T (p.Glu817Val)
7g.150948509T>CCA369853827KCNH2n.3460A>G
c.2627A>G (p.Glu876Gly)
c.1607A>G (p.Glu536Gly)
c.2327A>G (p.Glu776Gly)
c.2477A>G (p.Glu826Gly)
c.2450A>G (p.Glu817Gly)
7g.150948509T>GCA369853825KCNH2n.3460A>C
c.2627A>C (p.Glu876Ala)
c.1607A>C (p.Glu536Ala)
c.2327A>C (p.Glu776Ala)
c.2477A>C (p.Glu826Ala)
c.2450A>C (p.Glu817Ala)
7g.150948510C>ACA369853830KCNH2n.3459G>T
c.2626G>T (p.Glu876Ter)
c.1606G>T (p.Glu536Ter)
c.2326G>T (p.Glu776Ter)
c.2476G>T (p.Glu826Ter)
c.2449G>T (p.Glu817Ter)
ClinVar dbSNP
7g.150948510C=CA1752431464KCNH2n.3459G=
c.2626G= (p.Glu876=)
c.1606G= (p.Glu536=)
c.2326G= (p.Glu776=)
c.2476G= (p.Glu826=)
c.2449G= (p.Glu817=)
7g.150948510C>GCA369853832KCNH2n.3459G>C
c.2626G>C (p.Glu876Gln)
c.1606G>C (p.Glu536Gln)
c.2326G>C (p.Glu776Gln)
c.2476G>C (p.Glu826Gln)
c.2449G>C (p.Glu817Gln)
7g.150948510C>TCA369853833KCNH2n.3459G>A
c.2626G>A (p.Glu876Lys)
c.1606G>A (p.Glu536Lys)
c.2326G>A (p.Glu776Lys)
c.2476G>A (p.Glu826Lys)
c.2449G>A (p.Glu817Lys)
ClinVar dbSNP gnomAD v4
7g.150948513_150948520dupCA658761325KCNH2n.3452_3459dup
c.2619_2626dup (p.Glu876AlafsTer5)
c.1599_1606dup (p.Glu536AlafsTer5)
c.2319_2326dup (p.Glu776AlafsTer5)
c.2469_2476dup (p.Glu826AlafsTer5)
c.2442_2449dup (p.Glu817AlafsTer5)
7g.150948511C>ACA458645016KCNH2n.3458G>T
c.2625G>T (p.Thr875=)
c.1605G>T (p.Thr535=)
c.2325G>T (p.Thr775=)
c.2475G>T (p.Thr825=)
c.2448G>T (p.Thr816=)
7g.150948511C=CA1752431470KCNH2n.3458G=
c.2625G= (p.Thr875=)
c.1605G= (p.Thr535=)
c.2325G= (p.Thr775=)
c.2475G= (p.Thr825=)
c.2448G= (p.Thr816=)
7g.150948511C>GCA458645017KCNH2n.3458G>C
c.2625G>C (p.Thr875=)
c.1605G>C (p.Thr535=)
c.2325G>C (p.Thr775=)
c.2475G>C (p.Thr825=)
c.2448G>C (p.Thr816=)
7g.150948511C>TCA033558KCNH2n.3458G>A
c.2625G>A (p.Thr875=)
c.1605G>A (p.Thr535=)
c.2325G>A (p.Thr775=)
c.2475G>A (p.Thr825=)
c.2448G>A (p.Thr816=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948512G>ACA007057KCNH2n.3457C>T
c.2624C>T (p.Thr875Met)
c.1604C>T (p.Thr535Met)
c.2324C>T (p.Thr775Met)
c.2474C>T (p.Thr825Met)
c.2447C>T (p.Thr816Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948512G>CCA369853837KCNH2n.3457C>G
c.2624C>G (p.Thr875Arg)
c.1604C>G (p.Thr535Arg)
c.2324C>G (p.Thr775Arg)
c.2474C>G (p.Thr825Arg)
c.2447C>G (p.Thr816Arg)
ClinVar dbSNP
7g.150948512G=CA1752431478KCNH2n.3457C=
c.2624C= (p.Thr875=)
c.1604C= (p.Thr535=)
c.2324C= (p.Thr775=)
c.2474C= (p.Thr825=)
c.2447C= (p.Thr816=)
7g.150948512G>TCA369853839KCNH2n.3457C>A
c.2624C>A (p.Thr875Lys)
c.1604C>A (p.Thr535Lys)
c.2324C>A (p.Thr775Lys)
c.2474C>A (p.Thr825Lys)
c.2447C>A (p.Thr816Lys)
7g.150948513_150948517dupCA2695208819KCNH2n.3453_3457dup
c.2620_2624dup (p.Glu876ValfsTer4)
c.1600_1604dup (p.Glu536ValfsTer4)
c.2320_2324dup (p.Glu776ValfsTer4)
c.2470_2474dup (p.Glu826ValfsTer4)
c.2443_2447dup (p.Glu817ValfsTer4)
7g.150948513T>ACA369853843KCNH2n.3456A>T
c.2623A>T (p.Thr875Ser)
c.1603A>T (p.Thr535Ser)
c.2323A>T (p.Thr775Ser)
c.2473A>T (p.Thr825Ser)
c.2446A>T (p.Thr816Ser)
gnomAD v4
7g.150948513T>CCA369853845KCNH2n.3456A>G
c.2623A>G (p.Thr875Ala)
c.1603A>G (p.Thr535Ala)
c.2323A>G (p.Thr775Ala)
c.2473A>G (p.Thr825Ala)
c.2446A>G (p.Thr816Ala)
7g.150948513T>GCA369853841KCNH2n.3456A>C
c.2623A>C (p.Thr875Pro)
c.1603A>C (p.Thr535Pro)
c.2323A>C (p.Thr775Pro)
c.2473A>C (p.Thr825Pro)
c.2446A>C (p.Thr816Pro)
gnomAD v4
7g.150948514A=CA1752431482KCNH2n.3455T=
c.2622T= (p.Ser874=)
c.1602T= (p.Ser534=)
c.2322T= (p.Ser774=)
c.2472T= (p.Ser824=)
c.2445T= (p.Ser815=)
7g.150948514A>CCA369853847KCNH2n.3455T>G
c.2622T>G (p.Ser874Arg)
c.1602T>G (p.Ser534Arg)
c.2322T>G (p.Ser774Arg)
c.2472T>G (p.Ser824Arg)
c.2445T>G (p.Ser815Arg)
7g.150948514A>GCA458645018KCNH2n.3455T>C
c.2622T>C (p.Ser874=)
c.1602T>C (p.Ser534=)
c.2322T>C (p.Ser774=)
c.2472T>C (p.Ser824=)
c.2445T>C (p.Ser815=)
dbSNP gnomAD v2 gnomAD v4
7g.150948514A>TCA369853849KCNH2n.3455T>A
c.2622T>A (p.Ser874Arg)
c.1602T>A (p.Ser534Arg)
c.2322T>A (p.Ser774Arg)
c.2472T>A (p.Ser824Arg)
c.2445T>A (p.Ser815Arg)
7g.150948514_150948519dupCA2685600520KCNH2n.3450_3455dup
c.2617_2622dup (p.Ser874_Thr875insGlySer)
c.1597_1602dup (p.Ser534_Thr535insGlySer)
c.2317_2322dup (p.Ser774_Thr775insGlySer)
c.2467_2472dup (p.Ser824_Thr825insGlySer)
c.2440_2445dup (p.Ser815_Thr816insGlySer)
gnomAD v4
7g.150948515C>ACA369853851KCNH2n.3454G>T
c.2621G>T (p.Ser874Ile)
c.1601G>T (p.Ser534Ile)
c.2321G>T (p.Ser774Ile)
c.2471G>T (p.Ser824Ile)
c.2444G>T (p.Ser815Ile)
gnomAD v4
7g.150948515C>GCA369853853KCNH2n.3454G>C
c.2621G>C (p.Ser874Thr)
c.1601G>C (p.Ser534Thr)
c.2321G>C (p.Ser774Thr)
c.2471G>C (p.Ser824Thr)
c.2444G>C (p.Ser815Thr)
7g.150948515C>TCA369853855KCNH2n.3454G>A
c.2621G>A (p.Ser874Asn)
c.1601G>A (p.Ser534Asn)
c.2321G>A (p.Ser774Asn)
c.2471G>A (p.Ser824Asn)
c.2444G>A (p.Ser815Asn)
7g.150948516T>ACA369853857KCNH2n.3453A>T
c.2620A>T (p.Ser874Cys)
c.1600A>T (p.Ser534Cys)
c.2320A>T (p.Ser774Cys)
c.2470A>T (p.Ser824Cys)
c.2443A>T (p.Ser815Cys)
7g.150948516T>CCA369853859KCNH2n.3453A>G
c.2620A>G (p.Ser874Gly)
c.1600A>G (p.Ser534Gly)
c.2320A>G (p.Ser774Gly)
c.2470A>G (p.Ser824Gly)
c.2443A>G (p.Ser815Gly)
7g.150948516T>GCA369853861KCNH2n.3453A>C
c.2620A>C (p.Ser874Arg)
c.1600A>C (p.Ser534Arg)
c.2320A>C (p.Ser774Arg)
c.2470A>C (p.Ser824Arg)
c.2443A>C (p.Ser815Arg)
ClinVar
7g.150948517G>ACA458645019KCNH2n.3452C>T
c.2619C>T (p.Gly873=)
c.1599C>T (p.Gly533=)
c.2319C>T (p.Gly773=)
c.2469C>T (p.Gly823=)
c.2442C>T (p.Gly814=)
7g.150948517G>CCA458645020KCNH2n.3452C>G
c.2619C>G (p.Gly873=)
c.1599C>G (p.Gly533=)
c.2319C>G (p.Gly773=)
c.2469C>G (p.Gly823=)
c.2442C>G (p.Gly814=)
7g.150948517G>TCA458645021KCNH2n.3452C>A
c.2619C>A (p.Gly873=)
c.1599C>A (p.Gly533=)
c.2319C>A (p.Gly773=)
c.2469C>A (p.Gly823=)
c.2442C>A (p.Gly814=)
7g.150948518C>ACA369853863KCNH2n.3451G>T
c.2618G>T (p.Gly873Val)
c.1598G>T (p.Gly533Val)
c.2318G>T (p.Gly773Val)
c.2468G>T (p.Gly823Val)
c.2441G>T (p.Gly814Val)
7g.150948518C>GCA369853867KCNH2n.3451G>C
c.2618G>C (p.Gly873Ala)
c.1598G>C (p.Gly533Ala)
c.2318G>C (p.Gly773Ala)
c.2468G>C (p.Gly823Ala)
c.2441G>C (p.Gly814Ala)
7g.150948518C>TCA369853865KCNH2n.3451G>A
c.2618G>A (p.Gly873Asp)
c.1598G>A (p.Gly533Asp)
c.2318G>A (p.Gly773Asp)
c.2468G>A (p.Gly823Asp)
c.2441G>A (p.Gly814Asp)
7g.150948519C>ACA033518KCNH2n.3450G>T
c.2617G>T (p.Gly873Cys)
c.1597G>T (p.Gly533Cys)
c.2317G>T (p.Gly773Cys)
c.2467G>T (p.Gly823Cys)
c.2440G>T (p.Gly814Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948519C=CA1752431487KCNH2n.3450G=
c.2617G= (p.Gly873=)
c.1597G= (p.Gly533=)
c.2317G= (p.Gly773=)
c.2467G= (p.Gly823=)
c.2440G= (p.Gly814=)
7g.150948519C>GCA369853870KCNH2n.3450G>C
c.2617G>C (p.Gly873Arg)
c.1597G>C (p.Gly533Arg)
c.2317G>C (p.Gly773Arg)
c.2467G>C (p.Gly823Arg)
c.2440G>C (p.Gly814Arg)
ClinVar dbSNP gnomAD v4
7g.150948519C>TCA007051KCNH2n.3450G>A
c.2617G>A (p.Gly873Ser)
c.1597G>A (p.Gly533Ser)
c.2317G>A (p.Gly773Ser)
c.2467G>A (p.Gly823Ser)
c.2440G>A (p.Gly814Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948519_150948523delCA2695208820KCNH2n.3446_3450del
c.2613_2617del (p.Pro872GlnfsTer?)
c.1593_1597del (p.Pro532GlnfsTer?)
c.2313_2317del (p.Pro772GlnfsTer?)
c.2463_2467del (p.Pro822GlnfsTer?)
c.2436_2440del (p.Pro813GlnfsTer?)
7g.150948520G>ACA033489KCNH2n.3449C>T
c.2616C>T (p.Pro872=)
c.1596C>T (p.Pro532=)
c.2316C>T (p.Pro772=)
c.2466C>T (p.Pro822=)
c.2439C>T (p.Pro813=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948520G>CCA458645022KCNH2n.3449C>G
c.2616C>G (p.Pro872=)
c.1596C>G (p.Pro532=)
c.2316C>G (p.Pro772=)
c.2466C>G (p.Pro822=)
c.2439C>G (p.Pro813=)
7g.150948520G=CA1752431494KCNH2n.3449C=
c.2616C= (p.Pro872=)
c.1596C= (p.Pro532=)
c.2316C= (p.Pro772=)
c.2466C= (p.Pro822=)
c.2439C= (p.Pro813=)
7g.150948520G>TCA458645023KCNH2n.3449C>A
c.2616C>A (p.Pro872=)
c.1596C>A (p.Pro532=)
c.2316C>A (p.Pro772=)
c.2466C>A (p.Pro822=)
c.2439C>A (p.Pro813=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948524dupCA915945572KCNH2n.3449dup
c.2616dup (p.Gly873ArgfsTer?)
c.1596dup (p.Gly533ArgfsTer?)
c.2316dup (p.Gly773ArgfsTer?)
c.2466dup (p.Gly823ArgfsTer?)
c.2439dup (p.Gly814ArgfsTer?)
ClinVar dbSNP
7g.150948524delCA2579062628KCNH2n.3449del
c.2616del (p.Gly873AlafsTer5)
c.1596del (p.Gly533AlafsTer5)
c.2316del (p.Gly773AlafsTer5)
c.2466del (p.Gly823AlafsTer5)
c.2439del (p.Gly814AlafsTer5)
gnomAD v4
7g.150948521G>ACA369853874KCNH2n.3448C>T
c.2615C>T (p.Pro872Leu)
c.1595C>T (p.Pro532Leu)
c.2315C>T (p.Pro772Leu)
c.2465C>T (p.Pro822Leu)
c.2438C>T (p.Pro813Leu)
7g.150948521G>CCA369853877KCNH2n.3448C>G
c.2615C>G (p.Pro872Arg)
c.1595C>G (p.Pro532Arg)
c.2315C>G (p.Pro772Arg)
c.2465C>G (p.Pro822Arg)
c.2438C>G (p.Pro813Arg)
7g.150948521G>TCA369853875KCNH2n.3448C>A
c.2615C>A (p.Pro872His)
c.1595C>A (p.Pro532His)
c.2315C>A (p.Pro772His)
c.2465C>A (p.Pro822His)
c.2438C>A (p.Pro813His)
gnomAD v4
7g.150948522G>ACA369853879KCNH2n.3447C>T
c.2614C>T (p.Pro872Ser)
c.1594C>T (p.Pro532Ser)
c.2314C>T (p.Pro772Ser)
c.2464C>T (p.Pro822Ser)
c.2437C>T (p.Pro813Ser)
7g.150948522G>CCA369853881KCNH2n.3447C>G
c.2614C>G (p.Pro872Ala)
c.1594C>G (p.Pro532Ala)
c.2314C>G (p.Pro772Ala)
c.2464C>G (p.Pro822Ala)
c.2437C>G (p.Pro813Ala)
gnomAD v4
7g.150948522G>TCA369853883KCNH2n.3447C>A
c.2614C>A (p.Pro872Thr)
c.1594C>A (p.Pro532Thr)
c.2314C>A (p.Pro772Thr)
c.2464C>A (p.Pro822Thr)
c.2437C>A (p.Pro813Thr)
ClinVar
7g.150948526_150948533dupCA2695208821KCNH2n.3440_3447dup
c.2607_2614dup (p.Pro872ArgfsTer9)
c.1587_1594dup (p.Pro532ArgfsTer9)
c.2307_2314dup (p.Pro772ArgfsTer9)
c.2457_2464dup (p.Pro822ArgfsTer9)
c.2430_2437dup (p.Pro813ArgfsTer9)
7g.150948523G>ACA458645027KCNH2n.3446C>T
c.2613C>T (p.Ser871=)
c.1593C>T (p.Ser531=)
c.2313C>T (p.Ser771=)
c.2463C>T (p.Ser821=)
c.2436C>T (p.Ser812=)
ClinVar dbSNP gnomAD v4
7g.150948523G>CCA458645028KCNH2n.3446C>G
c.2613C>G (p.Ser871=)
c.1593C>G (p.Ser531=)
c.2313C>G (p.Ser771=)
c.2463C>G (p.Ser821=)
c.2436C>G (p.Ser812=)
7g.150948523G=CA1752431505KCNH2n.3446C=
c.2613C= (p.Ser871=)
c.1593C= (p.Ser531=)
c.2313C= (p.Ser771=)
c.2463C= (p.Ser821=)
c.2436C= (p.Ser812=)
7g.150948523G>TCA458645029KCNH2n.3446C>A
c.2613C>A (p.Ser871=)
c.1593C>A (p.Ser531=)
c.2313C>A (p.Ser771=)
c.2463C>A (p.Ser821=)
c.2436C>A (p.Ser812=)
gnomAD v4
7g.150948524G>ACA369853885KCNH2n.3445C>T
c.2612C>T (p.Ser871Phe)
c.1592C>T (p.Ser531Phe)
c.2312C>T (p.Ser771Phe)
c.2462C>T (p.Ser821Phe)
c.2435C>T (p.Ser812Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948524G>CCA369853887KCNH2n.3445C>G
c.2612C>G (p.Ser871Cys)
c.1592C>G (p.Ser531Cys)
c.2312C>G (p.Ser771Cys)
c.2462C>G (p.Ser821Cys)
c.2435C>G (p.Ser812Cys)
ClinVar dbSNP gnomAD v4
7g.150948524G=CA1752431510KCNH2n.3445C=
c.2612C= (p.Ser871=)
c.1592C= (p.Ser531=)
c.2312C= (p.Ser771=)
c.2462C= (p.Ser821=)
c.2435C= (p.Ser812=)
7g.150948524G>TCA369853889KCNH2n.3445C>A
c.2612C>A (p.Ser871Tyr)
c.1592C>A (p.Ser531Tyr)
c.2312C>A (p.Ser771Tyr)
c.2462C>A (p.Ser821Tyr)
c.2435C>A (p.Ser812Tyr)
7g.150948525A=CA1752431516KCNH2n.3444T=
c.2611T= (p.Ser871=)
c.1591T= (p.Ser531=)
c.2311T= (p.Ser771=)
c.2461T= (p.Ser821=)
c.2434T= (p.Ser812=)
7g.150948525A>CCA169073230KCNH2n.3444T>G
c.2611T>G (p.Ser871Ala)
c.1591T>G (p.Ser531Ala)
c.2311T>G (p.Ser771Ala)
c.2461T>G (p.Ser821Ala)
c.2434T>G (p.Ser812Ala)
dbSNP gnomAD v3 gnomAD v4
7g.150948525A>GCA369853892KCNH2n.3444T>C
c.2611T>C (p.Ser871Pro)
c.1591T>C (p.Ser531Pro)
c.2311T>C (p.Ser771Pro)
c.2461T>C (p.Ser821Pro)
c.2434T>C (p.Ser812Pro)
7g.150948525A>TCA369853894KCNH2n.3444T>A
c.2611T>A (p.Ser871Thr)
c.1591T>A (p.Ser531Thr)
c.2311T>A (p.Ser771Thr)
c.2461T>A (p.Ser821Thr)
c.2434T>A (p.Ser812Thr)
gnomAD v4
7g.150948526G>ACA458645030KCNH2n.3443C>T
c.2610C>T (p.Gly870=)
c.1590C>T (p.Gly530=)
c.2310C>T (p.Gly770=)
c.2460C>T (p.Gly820=)
c.2433C>T (p.Gly811=)
7g.150948526G>CCA458645031KCNH2n.3443C>G
c.2610C>G (p.Gly870=)
c.1590C>G (p.Gly530=)
c.2310C>G (p.Gly770=)
c.2460C>G (p.Gly820=)
c.2433C>G (p.Gly811=)
ClinVar dbSNP
7g.150948526G>TCA458645032KCNH2n.3443C>A
c.2610C>A (p.Gly870=)
c.1590C>A (p.Gly530=)
c.2310C>A (p.Gly770=)
c.2460C>A (p.Gly820=)
c.2433C>A (p.Gly811=)
7g.150948527C>ACA369853897KCNH2n.3442G>T
c.2609G>T (p.Gly870Val)
c.1589G>T (p.Gly530Val)
c.2309G>T (p.Gly770Val)
c.2459G>T (p.Gly820Val)
c.2432G>T (p.Gly811Val)
gnomAD v4
7g.150948527C>GCA369853898KCNH2n.3442G>C
c.2609G>C (p.Gly870Ala)
c.1589G>C (p.Gly530Ala)
c.2309G>C (p.Gly770Ala)
c.2459G>C (p.Gly820Ala)
c.2432G>C (p.Gly811Ala)
7g.150948527C>TCA369853901KCNH2n.3442G>A
c.2609G>A (p.Gly870Asp)
c.1589G>A (p.Gly530Asp)
c.2309G>A (p.Gly770Asp)
c.2459G>A (p.Gly820Asp)
c.2432G>A (p.Gly811Asp)
gnomAD v4
7g.150948529delCA2685600524KCNH2n.3442del
c.2609del (p.Gly870AlafsTer8)
c.1589del (p.Gly530AlafsTer8)
c.2309del (p.Gly770AlafsTer8)
c.2459del (p.Gly820AlafsTer8)
c.2432del (p.Gly811AlafsTer8)
gnomAD v4
7g.150948528C>ACA369853903KCNH2n.3441G>T
c.2608G>T (p.Gly870Cys)
c.1588G>T (p.Gly530Cys)
c.2308G>T (p.Gly770Cys)
c.2458G>T (p.Gly820Cys)
c.2431G>T (p.Gly811Cys)
COSMIC
7g.150948528C>GCA369853907KCNH2n.3441G>C
c.2608G>C (p.Gly870Arg)
c.1588G>C (p.Gly530Arg)
c.2308G>C (p.Gly770Arg)
c.2458G>C (p.Gly820Arg)
c.2431G>C (p.Gly811Arg)
7g.150948528C>TCA369853905KCNH2n.3441G>A
c.2608G>A (p.Gly870Ser)
c.1588G>A (p.Gly530Ser)
c.2308G>A (p.Gly770Ser)
c.2458G>A (p.Gly820Ser)
c.2431G>A (p.Gly811Ser)
ClinVar
7g.150948529C>ACA458645033KCNH2n.3440G>T
c.2607G>T (p.Pro869=)
c.1587G>T (p.Pro529=)
c.2307G>T (p.Pro769=)
c.2457G>T (p.Pro819=)
c.2430G>T (p.Pro810=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948529C=CA1752431517KCNH2n.3440G=
c.2607G= (p.Pro869=)
c.1587G= (p.Pro529=)
c.2307G= (p.Pro769=)
c.2457G= (p.Pro819=)
c.2430G= (p.Pro810=)
7g.150948529C>GCA458645034KCNH2n.3440G>C
c.2607G>C (p.Pro869=)
c.1587G>C (p.Pro529=)
c.2307G>C (p.Pro769=)
c.2457G>C (p.Pro819=)
c.2430G>C (p.Pro810=)
7g.150948529C>TCA007033KCNH2n.3440G>A
c.2607G>A (p.Pro869=)
c.1587G>A (p.Pro529=)
c.2307G>A (p.Pro769=)
c.2457G>A (p.Pro819=)
c.2430G>A (p.Pro810=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948530G>ACA007025KCNH2n.3439C>T
c.2606C>T (p.Pro869Leu)
c.1586C>T (p.Pro529Leu)
c.2306C>T (p.Pro769Leu)
c.2456C>T (p.Pro819Leu)
c.2429C>T (p.Pro810Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948530G>CCA369853911KCNH2n.3439C>G
c.2606C>G (p.Pro869Arg)
c.1586C>G (p.Pro529Arg)
c.2306C>G (p.Pro769Arg)
c.2456C>G (p.Pro819Arg)
c.2429C>G (p.Pro810Arg)
7g.150948530G=CA1752431520KCNH2n.3439C=
c.2606C= (p.Pro869=)
c.1586C= (p.Pro529=)
c.2306C= (p.Pro769=)
c.2456C= (p.Pro819=)
c.2429C= (p.Pro810=)
7g.150948530G>TCA369853912KCNH2n.3439C>A
c.2606C>A (p.Pro869Gln)
c.1586C>A (p.Pro529Gln)
c.2306C>A (p.Pro769Gln)
c.2456C>A (p.Pro819Gln)
c.2429C>A (p.Pro810Gln)
7g.150948531G>ACA369853914KCNH2n.3438C>T
c.2605C>T (p.Pro869Ser)
c.1585C>T (p.Pro529Ser)
c.2305C>T (p.Pro769Ser)
c.2455C>T (p.Pro819Ser)
c.2428C>T (p.Pro810Ser)
COSMIC COSMIC
7g.150948531G>CCA369853916KCNH2n.3438C>G
c.2605C>G (p.Pro869Ala)
c.1585C>G (p.Pro529Ala)
c.2305C>G (p.Pro769Ala)
c.2455C>G (p.Pro819Ala)
c.2428C>G (p.Pro810Ala)
7g.150948531G>TCA369853918KCNH2n.3438C>A
c.2605C>A (p.Pro869Thr)
c.1585C>A (p.Pro529Thr)
c.2305C>A (p.Pro769Thr)
c.2455C>A (p.Pro819Thr)
c.2428C>A (p.Pro810Thr)
7g.150948533_150948542delCA2695208822KCNH2n.3429_3438del
c.2596_2605del (p.Asn866ArgfsTer9)
c.1576_1585del (p.Asn526ArgfsTer9)
c.2296_2305del (p.Asn766ArgfsTer9)
c.2446_2455del (p.Asn816ArgfsTer9)
c.2419_2428del (p.Asn807ArgfsTer9)
7g.150948532G>ACA033422KCNH2n.3437C>T
c.2604C>T (p.Ile868=)
c.1584C>T (p.Ile528=)
c.2304C>T (p.Ile768=)
c.2454C>T (p.Ile818=)
c.2427C>T (p.Ile809=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948532G>CCA369853921KCNH2n.3437C>G
c.2604C>G (p.Ile868Met)
c.1584C>G (p.Ile528Met)
c.2304C>G (p.Ile768Met)
c.2454C>G (p.Ile818Met)
c.2427C>G (p.Ile809Met)
7g.150948532G=CA1752431523KCNH2n.3437C=
c.2604C= (p.Ile868=)
c.1584C= (p.Ile528=)
c.2304C= (p.Ile768=)
c.2454C= (p.Ile818=)
c.2427C= (p.Ile809=)
7g.150948532G>TCA458645038KCNH2n.3437C>A
c.2604C>A (p.Ile868=)
c.1584C>A (p.Ile528=)
c.2304C>A (p.Ile768=)
c.2454C>A (p.Ile818=)
c.2427C>A (p.Ile809=)
7g.150948533A>CCA369853923KCNH2n.3436T>G
c.2603T>G (p.Ile868Ser)
c.1583T>G (p.Ile528Ser)
c.2303T>G (p.Ile768Ser)
c.2453T>G (p.Ile818Ser)
c.2426T>G (p.Ile809Ser)
7g.150948533A>GCA369853925KCNH2n.3436T>C
c.2603T>C (p.Ile868Thr)
c.1583T>C (p.Ile528Thr)
c.2303T>C (p.Ile768Thr)
c.2453T>C (p.Ile818Thr)
c.2426T>C (p.Ile809Thr)
7g.150948533A>TCA369853927KCNH2n.3436T>A
c.2603T>A (p.Ile868Asn)
c.1583T>A (p.Ile528Asn)
c.2303T>A (p.Ile768Asn)
c.2453T>A (p.Ile818Asn)
c.2426T>A (p.Ile809Asn)
7g.150948534T>ACA369853933KCNH2n.3435A>T
c.2602A>T (p.Ile868Phe)
c.1582A>T (p.Ile528Phe)
c.2302A>T (p.Ile768Phe)
c.2452A>T (p.Ile818Phe)
c.2425A>T (p.Ile809Phe)
7g.150948534T>CCA369853929KCNH2n.3435A>G
c.2602A>G (p.Ile868Val)
c.1582A>G (p.Ile528Val)
c.2302A>G (p.Ile768Val)
c.2452A>G (p.Ile818Val)
c.2425A>G (p.Ile809Val)
7g.150948534T>GCA369853931KCNH2n.3435A>C
c.2602A>C (p.Ile868Leu)
c.1582A>C (p.Ile528Leu)
c.2302A>C (p.Ile768Leu)
c.2452A>C (p.Ile818Leu)
c.2425A>C (p.Ile809Leu)
7g.150948535C>ACA369853934KCNH2n.3434G>T
c.2601G>T (p.Met867Ile)
c.1581G>T (p.Met527Ile)
c.2301G>T (p.Met767Ile)
c.2451G>T (p.Met817Ile)
c.2424G>T (p.Met808Ile)
7g.150948535C>GCA369853936KCNH2n.3434G>C
c.2601G>C (p.Met867Ile)
c.1581G>C (p.Met527Ile)
c.2301G>C (p.Met767Ile)
c.2451G>C (p.Met817Ile)
c.2424G>C (p.Met808Ile)
7g.150948535C>TCA369853938KCNH2n.3434G>A
c.2601G>A (p.Met867Ile)
c.1581G>A (p.Met527Ile)
c.2301G>A (p.Met767Ile)
c.2451G>A (p.Met817Ile)
c.2424G>A (p.Met808Ile)
7g.150948536A=CA1752431529KCNH2n.3433T=
c.2600T= (p.Met867=)
c.1580T= (p.Met527=)
c.2300T= (p.Met767=)
c.2450T= (p.Met817=)
c.2423T= (p.Met808=)
7g.150948536A>CCA369853940KCNH2n.3433T>G
c.2600T>G (p.Met867Arg)
c.1580T>G (p.Met527Arg)
c.2300T>G (p.Met767Arg)
c.2450T>G (p.Met817Arg)
c.2423T>G (p.Met808Arg)
7g.150948536A>GCA033403KCNH2n.3433T>C
c.2600T>C (p.Met867Thr)
c.1580T>C (p.Met527Thr)
c.2300T>C (p.Met767Thr)
c.2450T>C (p.Met817Thr)
c.2423T>C (p.Met808Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948536A>TCA369853943KCNH2n.3433T>A
c.2600T>A (p.Met867Lys)
c.1580T>A (p.Met527Lys)
c.2300T>A (p.Met767Lys)
c.2450T>A (p.Met817Lys)
c.2423T>A (p.Met808Lys)
7g.150948537T>ACA369853945KCNH2n.3432A>T
c.2599A>T (p.Met867Leu)
c.1579A>T (p.Met527Leu)
c.2299A>T (p.Met767Leu)
c.2449A>T (p.Met817Leu)
c.2422A>T (p.Met808Leu)
7g.150948537T>CCA369853947KCNH2n.3432A>G
c.2599A>G (p.Met867Val)
c.1579A>G (p.Met527Val)
c.2299A>G (p.Met767Val)
c.2449A>G (p.Met817Val)
c.2422A>G (p.Met808Val)
7g.150948537T>GCA369853949KCNH2n.3432A>C
c.2599A>C (p.Met867Leu)
c.1579A>C (p.Met527Leu)
c.2299A>C (p.Met767Leu)
c.2449A>C (p.Met817Leu)
c.2422A>C (p.Met808Leu)
7g.150948539_150948541delCA2778425547KCNH2n.3430_3432del
c.2597_2599del (p.Asn866del)
c.1577_1579del (p.Asn526del)
c.2297_2299del (p.Asn766del)
c.2447_2449del (p.Asn816del)
c.2420_2422del (p.Asn807del)
7g.150948537_150948543delCA2695208823KCNH2n.3426_3432del
c.2593_2599del (p.Thr865Ter)
c.1573_1579del (p.Thr525Ter)
c.2293_2299del (p.Thr765Ter)
c.2443_2449del (p.Thr815Ter)
c.2416_2422del (p.Thr806Ter)
7g.150948538G>ACA169073238KCNH2n.3431C>T
c.2598C>T (p.Asn866=)
c.1578C>T (p.Asn526=)
c.2298C>T (p.Asn766=)
c.2448C>T (p.Asn816=)
c.2421C>T (p.Asn807=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948538G>CCA369853951KCNH2n.3431C>G
c.2598C>G (p.Asn866Lys)
c.1578C>G (p.Asn526Lys)
c.2298C>G (p.Asn766Lys)
c.2448C>G (p.Asn816Lys)
c.2421C>G (p.Asn807Lys)
7g.150948538G=CA1752431532KCNH2n.3431C=
c.2598C= (p.Asn866=)
c.1578C= (p.Asn526=)
c.2298C= (p.Asn766=)
c.2448C= (p.Asn816=)
c.2421C= (p.Asn807=)
7g.150948538G>TCA369853952KCNH2n.3431C>A
c.2598C>A (p.Asn866Lys)
c.1578C>A (p.Asn526Lys)
c.2298C>A (p.Asn766Lys)
c.2448C>A (p.Asn816Lys)
c.2421C>A (p.Asn807Lys)
7g.150948539T>ACA369853958KCNH2n.3430A>T
c.2597A>T (p.Asn866Ile)
c.1577A>T (p.Asn526Ile)
c.2297A>T (p.Asn766Ile)
c.2447A>T (p.Asn816Ile)
c.2420A>T (p.Asn807Ile)
dbSNP
7g.150948539T>CCA369853955KCNH2n.3430A>G
c.2597A>G (p.Asn866Ser)
c.1577A>G (p.Asn526Ser)
c.2297A>G (p.Asn766Ser)
c.2447A>G (p.Asn816Ser)
c.2420A>G (p.Asn807Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150948539T>GCA369853957KCNH2n.3430A>C
c.2597A>C (p.Asn866Thr)
c.1577A>C (p.Asn526Thr)
c.2297A>C (p.Asn766Thr)
c.2447A>C (p.Asn816Thr)
c.2420A>C (p.Asn807Thr)
7g.150948539T=CA1752431537KCNH2n.3430A=
c.2597A= (p.Asn866=)
c.1577A= (p.Asn526=)
c.2297A= (p.Asn766=)
c.2447A= (p.Asn816=)
c.2420A= (p.Asn807=)
7g.150948540T>ACA369853961KCNH2n.3429A>T
c.2596A>T (p.Asn866Tyr)
c.1576A>T (p.Asn526Tyr)
c.2296A>T (p.Asn766Tyr)
c.2446A>T (p.Asn816Tyr)
c.2419A>T (p.Asn807Tyr)
7g.150948540T>CCA369853963KCNH2n.3429A>G
c.2596A>G (p.Asn866Asp)
c.1576A>G (p.Asn526Asp)
c.2296A>G (p.Asn766Asp)
c.2446A>G (p.Asn816Asp)
c.2419A>G (p.Asn807Asp)
7g.150948540T>GCA369853962KCNH2n.3429A>C
c.2596A>C (p.Asn866His)
c.1576A>C (p.Asn526His)
c.2296A>C (p.Asn766His)
c.2446A>C (p.Asn816His)
c.2419A>C (p.Asn807His)
7g.150948541G>ACA033385KCNH2n.3428C>T
c.2595C>T (p.Thr865=)
c.1575C>T (p.Thr525=)
c.2295C>T (p.Thr765=)
c.2445C>T (p.Thr815=)
c.2418C>T (p.Thr806=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150948541G>CCA458645043KCNH2n.3428C>G
c.2595C>G (p.Thr865=)
c.1575C>G (p.Thr525=)
c.2295C>G (p.Thr765=)
c.2445C>G (p.Thr815=)
c.2418C>G (p.Thr806=)
ClinVar dbSNP
7g.150948541G=CA1752431540KCNH2n.3428C=
c.2595C= (p.Thr865=)
c.1575C= (p.Thr525=)
c.2295C= (p.Thr765=)
c.2445C= (p.Thr815=)
c.2418C= (p.Thr806=)
7g.150948541G>TCA458645041KCNH2n.3428C>A
c.2595C>A (p.Thr865=)
c.1575C>A (p.Thr525=)
c.2295C>A (p.Thr765=)
c.2445C>A (p.Thr815=)
c.2418C>A (p.Thr806=)
7g.150948542G>ACA369853966KCNH2n.3427C>T
c.2594C>T (p.Thr865Ile)
c.1574C>T (p.Thr525Ile)
c.2294C>T (p.Thr765Ile)
c.2444C>T (p.Thr815Ile)
c.2417C>T (p.Thr806Ile)
ClinVar dbSNP gnomAD v4
7g.150948542G>CCA033375KCNH2n.3427C>G
c.2594C>G (p.Thr865Ser)
c.1574C>G (p.Thr525Ser)
c.2294C>G (p.Thr765Ser)
c.2444C>G (p.Thr815Ser)
c.2417C>G (p.Thr806Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150948542G=CA1752431546KCNH2n.3427C=
c.2594C= (p.Thr865=)
c.1574C= (p.Thr525=)
c.2294C= (p.Thr765=)
c.2444C= (p.Thr815=)
c.2417C= (p.Thr806=)
7g.150948542G>TCA369853968KCNH2n.3427C>A
c.2594C>A (p.Thr865Asn)
c.1574C>A (p.Thr525Asn)
c.2294C>A (p.Thr765Asn)
c.2444C>A (p.Thr815Asn)
c.2417C>A (p.Thr806Asn)
7g.150948543T>ACA369853970KCNH2n.3426A>T
c.2593A>T (p.Thr865Ser)
c.1573A>T (p.Thr525Ser)
c.2293A>T (p.Thr765Ser)
c.2443A>T (p.Thr815Ser)
c.2416A>T (p.Thr806Ser)
7g.150948543T>CCA369853972KCNH2n.3426A>G
c.2593A>G (p.Thr865Ala)
c.1573A>G (p.Thr525Ala)
c.2293A>G (p.Thr765Ala)
c.2443A>G (p.Thr815Ala)
c.2416A>G (p.Thr806Ala)
7g.150948543T>GCA369853974KCNH2n.3426A>C
c.2593A>C (p.Thr865Pro)
c.1573A>C (p.Thr525Pro)
c.2293A>C (p.Thr765Pro)
c.2443A>C (p.Thr815Pro)
c.2416A>C (p.Thr806Pro)
7g.150948544C>ACA369853976KCNH2n.3426-1G>T
c.2593-1G>T (n.2593-1G>T)
c.1573-1G>T (n.1573-1G>T)
c.2293-1G>T (n.2293-1G>T)
c.2443-1G>T (n.2443-1G>T)
c.2416-1G>T (n.2416-1G>T)
7g.150948544C>GCA369853977KCNH2n.3426-1G>C
c.2593-1G>C (n.2593-1G>C)
c.1573-1G>C (n.1573-1G>C)
c.2293-1G>C (n.2293-1G>C)
c.2443-1G>C (n.2443-1G>C)
c.2416-1G>C (n.2416-1G>C)
ClinVar
7g.150948544C>TCA369853979KCNH2n.3426-1G>A
c.2593-1G>A (n.2593-1G>A)
c.1573-1G>A (n.1573-1G>A)
c.2293-1G>A (n.2293-1G>A)
c.2443-1G>A (n.2443-1G>A)
c.2416-1G>A (n.2416-1G>A)
7g.150948545T>ACA369853981KCNH2n.3426-2A>T
c.2593-2A>T (n.2593-2A>T)
c.1573-2A>T (n.1573-2A>T)
c.2293-2A>T (n.2293-2A>T)
c.2443-2A>T (n.2443-2A>T)
c.2416-2A>T (n.2416-2A>T)
7g.150948545T>CCA369853983KCNH2n.3426-2A>G
c.2593-2A>G (n.2593-2A>G)
c.1573-2A>G (n.1573-2A>G)
c.2293-2A>G (n.2293-2A>G)
c.2443-2A>G (n.2443-2A>G)
c.2416-2A>G (n.2416-2A>G)
7g.150948545T>GCA369853985KCNH2n.3426-2A>C
c.2593-2A>C (n.2593-2A>C)
c.1573-2A>C (n.1573-2A>C)
c.2293-2A>C (n.2293-2A>C)
c.2443-2A>C (n.2443-2A>C)
c.2416-2A>C (n.2416-2A>C)
7g.150948547G>ACA1108705099KCNH2n.3426-4C>T
c.2593-4C>T (n.2593-4C>T)
c.1573-4C>T (n.1573-4C>T)
c.2293-4C>T (n.2293-4C>T)
c.2443-4C>T (n.2443-4C>T)
c.2416-4C>T (n.2416-4C>T)
dbSNP gnomAD v3 gnomAD v4
7g.150948547G=CA1752431549KCNH2n.3426-4C=
c.2593-4C= (n.2593-4C=)
c.1573-4C= (n.1573-4C=)
c.2293-4C= (n.2293-4C=)
c.2443-4C= (n.2443-4C=)
c.2416-4C= (n.2416-4C=)
7g.150948548_150948558delCA2580077782KCNH2n.3426-15_3426-5del
c.2593-15_2593-5del (n.2593-15_2593-5del)
c.1573-15_1573-5del (n.1573-15_1573-5del)
c.2293-15_2293-5del (n.2293-15_2293-5del)
c.2443-15_2443-5del (n.2443-15_2443-5del)
c.2416-15_2416-5del (n.2416-15_2416-5del)
ClinVar
7g.150948550C=CA1752431551KCNH2n.3426-7G=
c.2593-7G= (n.2593-7G=)
c.1573-7G= (n.1573-7G=)
c.2293-7G= (n.2293-7G=)
c.2443-7G= (n.2443-7G=)
c.2416-7G= (n.2416-7G=)
7g.150948550C>GCA2685600526KCNH2n.3426-7G>C
c.2593-7G>C (n.2593-7G>C)
c.1573-7G>C (n.1573-7G>C)
c.2293-7G>C (n.2293-7G>C)
c.2443-7G>C (n.2443-7G>C)
c.2416-7G>C (n.2416-7G>C)
gnomAD v4
7g.150948550C>TCA578701935KCNH2n.3426-7G>A
c.2593-7G>A (n.2593-7G>A)
c.1573-7G>A (n.1573-7G>A)
c.2293-7G>A (n.2293-7G>A)
c.2443-7G>A (n.2443-7G>A)
c.2416-7G>A (n.2416-7G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150948551_150948552delinsCACA1752431553KCNH2n.3426-9_3426-8delinsTG
c.2593-9_2593-8delinsTG (n.2593-9_2593-8delinsTG)
c.1573-9_1573-8delinsTG (n.1573-9_1573-8delinsTG)
c.2293-9_2293-8delinsTG (n.2293-9_2293-8delinsTG)
c.2443-9_2443-8delinsTG (n.2443-9_2443-8delinsTG)
c.2416-9_2416-8delinsTG (n.2416-9_2416-8delinsTG)
7g.150948555delCA578701936KCNH2n.3426-9del
c.2593-9del (n.2593-9del)
c.1573-9del (n.1573-9del)
c.2293-9del (n.2293-9del)
c.2443-9del (n.2443-9del)
c.2416-9del (n.2416-9del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched