Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175211T>ACA400860030KCNJ2c.172T>A (p.Phe58Ile)
dbSNP gnomAD v4
17g.70175211T>CCA400860029KCNJ2c.172T>C (p.Phe58Leu)
17g.70175211T>GCA400860028KCNJ2c.172T>G (p.Phe58Val)
17g.70175211T=CA2272996475KCNJ2c.172T= (p.Phe58=)
17g.70175212T>ACA400860031KCNJ2c.173T>A (p.Phe58Tyr)
17g.70175212T>CCA400860032KCNJ2c.173T>C (p.Phe58Ser)
17g.70175212T>GCA400860033KCNJ2c.173T>G (p.Phe58Cys)
17g.70175213C>ACA400860034KCNJ2c.174C>A (p.Phe58Leu)
17g.70175213C=CA2272996476KCNJ2c.174C= (p.Phe58=)
17g.70175213C>GCA400860035KCNJ2c.174C>G (p.Phe58Leu)
17g.70175213C>TCA291730KCNJ2c.174C>T (p.Phe58=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175214A>CCA400860038KCNJ2c.175A>C (p.Ile59Leu)
17g.70175214A>GCA400860036KCNJ2c.175A>G (p.Ile59Val)
17g.70175214A>TCA400860037KCNJ2c.175A>T (p.Ile59Phe)
17g.70175215T>ACA400860039KCNJ2c.176T>A (p.Ile59Asn)
17g.70175215T>CCA400860040KCNJ2c.176T>C (p.Ile59Thr)
17g.70175215T>GCA293702903KCNJ2c.176T>G (p.Ile59Ser)
dbSNP
17g.70175215T=CA2272996477KCNJ2c.176T= (p.Ile59=)
17g.70175216C>ACA293702904KCNJ2c.177C>A (p.Ile59=)
dbSNP
17g.70175216C=CA2272996478KCNJ2c.177C= (p.Ile59=)
17g.70175216C>GCA400860041KCNJ2c.177C>G (p.Ile59Met)
17g.70175216C>TCA501700321KCNJ2c.177C>T (p.Ile59=)
17g.70175217A>CCA400860042KCNJ2c.178A>C (p.Asn60His)
gnomAD v4
17g.70175217A>GCA400860043KCNJ2c.178A>G (p.Asn60Asp)
17g.70175217A>TCA400860044KCNJ2c.178A>T (p.Asn60Tyr)
17g.70175218A=CA2272996479KCNJ2c.179A= (p.Asn60=)
17g.70175218A>CCA400860045KCNJ2c.179A>C (p.Asn60Thr)
17g.70175218A>GCA400860046KCNJ2c.179A>G (p.Asn60Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175218A>TCA400860047KCNJ2c.179A>T (p.Asn60Ile)
gnomAD v4
17g.70175219T>ACA400860048KCNJ2c.180T>A (p.Asn60Lys)
17g.70175219T>CCA501700322KCNJ2c.180T>C (p.Asn60=)
gnomAD v4
17g.70175219T>GCA400860049KCNJ2c.180T>G (p.Asn60Lys)
17g.70175220G>ACA400860052KCNJ2c.181G>A (p.Val61Met)
17g.70175220G>CCA400860050KCNJ2c.181G>C (p.Val61Leu)
17g.70175220G>TCA400860051KCNJ2c.181G>T (p.Val61Leu)
gnomAD v4
17g.70175221T>ACA400860053KCNJ2c.182T>A (p.Val61Glu)
17g.70175221T>CCA400860054KCNJ2c.182T>C (p.Val61Ala)
17g.70175221T>GCA400860055KCNJ2c.182T>G (p.Val61Gly)
17g.70175222G>ACA501700325KCNJ2c.183G>A (p.Val61=)
17g.70175222G>CCA501700324KCNJ2c.183G>C (p.Val61=)
17g.70175222G>TCA501700323KCNJ2c.183G>T (p.Val61=)
17g.70175223G>ACA400860056KCNJ2c.184G>A (p.Gly62Ser)
17g.70175223G>CCA400860057KCNJ2c.184G>C (p.Gly62Arg)
17g.70175223G>TCA400860058KCNJ2c.184G>T (p.Gly62Cys)
17g.70175224G>ACA400860059KCNJ2c.185G>A (p.Gly62Asp)
17g.70175224G>CCA400860060KCNJ2c.185G>C (p.Gly62Ala)
17g.70175224G>TCA400860061KCNJ2c.185G>T (p.Gly62Val)
17g.70175225T>ACA501700326KCNJ2c.186T>A (p.Gly62=)
17g.70175225T>CCA501700327KCNJ2c.186T>C (p.Gly62=)
ClinVar dbSNP gnomAD v4
17g.70175225T>GCA501700328KCNJ2c.186T>G (p.Gly62=)
gnomAD v4
17g.70175226G>ACA400860062KCNJ2c.187G>A (p.Glu63Lys)
dbSNP
17g.70175226G>CCA400860063KCNJ2c.187G>C (p.Glu63Gln)
17g.70175226G>TCA400860064KCNJ2c.187G>T (p.Glu63Ter)
COSMIC
17g.70175227A>CCA400860067KCNJ2c.188A>C (p.Glu63Ala)
17g.70175227A>GCA400860066KCNJ2c.188A>G (p.Glu63Gly)
COSMIC
17g.70175227A>TCA400860065KCNJ2c.188A>T (p.Glu63Val)
17g.70175228G>ACA501700329KCNJ2c.189G>A (p.Glu63=)
gnomAD v4
17g.70175228G>CCA400860068KCNJ2c.189G>C (p.Glu63Asp)
17g.70175228G>TCA400860069KCNJ2c.189G>T (p.Glu63Asp)
17g.70175229A>CCA400860070KCNJ2c.190A>C (p.Lys64Gln)
17g.70175229A>GCA400860071KCNJ2c.190A>G (p.Lys64Glu)
17g.70175229A>TCA400860072KCNJ2c.190A>T (p.Lys64Ter)
17g.70175230A>CCA400860073KCNJ2c.191A>C (p.Lys64Thr)
17g.70175230A>GCA400860074KCNJ2c.191A>G (p.Lys64Arg)
ClinVar dbSNP
17g.70175230A>TCA400860075KCNJ2c.191A>T (p.Lys64Met)
17g.70175231G>ACA501700330KCNJ2c.192G>A (p.Lys64=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175231G>CCA400860076KCNJ2c.192G>C (p.Lys64Asn)
17g.70175231G=CA2272996480KCNJ2c.192G= (p.Lys64=)
17g.70175231G>TCA400860077KCNJ2c.192G>T (p.Lys64Asn)
17g.70175232G>ACA400860078KCNJ2c.193G>A (p.Gly65Arg)
17g.70175232G>CCA400860079KCNJ2c.193G>C (p.Gly65Arg)
17g.70175232G>TCA400860080KCNJ2c.193G>T (p.Gly65Trp)
17g.70175233G>ACA400860082KCNJ2c.194G>A (p.Gly65Glu)
17g.70175233G>CCA400860083KCNJ2c.194G>C (p.Gly65Ala)
17g.70175233G>TCA400860081KCNJ2c.194G>T (p.Gly65Val)
dbSNP
17g.70175234G>ACA501700331KCNJ2c.195G>A (p.Gly65=)
17g.70175234G>CCA501700332KCNJ2c.195G>C (p.Gly65=)
17g.70175234G>TCA501700333KCNJ2c.195G>T (p.Gly65=)
17g.70175235C>ACA400860084KCNJ2c.196C>A (p.Gln66Lys)
17g.70175235C>GCA400860086KCNJ2c.196C>G (p.Gln66Glu)
17g.70175235C>TCA400860085KCNJ2c.196C>T (p.Gln66Ter)
17g.70175236A>CCA400860087KCNJ2c.197A>C (p.Gln66Pro)
17g.70175236A>GCA400860088KCNJ2c.197A>G (p.Gln66Arg)
17g.70175236A>TCA400860089KCNJ2c.197A>T (p.Gln66Leu)
17g.70175237A>CCA400860090KCNJ2c.198A>C (p.Gln66His)
17g.70175237A>GCA501700334KCNJ2c.198A>G (p.Gln66=)
17g.70175237A>TCA400860091KCNJ2c.198A>T (p.Gln66His)
17g.70175238C>ACA8738698KCNJ2c.199C>A (p.Arg67=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.70175238C=CA2272996481KCNJ2c.199C= (p.Arg67=)
17g.70175238C>GCA400860092KCNJ2c.199C>G (p.Arg67Gly)
17g.70175238C>TCA302015KCNJ2c.199C>T (p.Arg67Trp)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175239G>ACA302017KCNJ2c.200G>A (p.Arg67Gln)
ClinVar dbSNP ExAC COSMIC
17g.70175239G>CCA400860093KCNJ2c.200G>C (p.Arg67Pro)
17g.70175239G=CA2272996482KCNJ2c.200G= (p.Arg67=)
17g.70175239G>TCA400860094KCNJ2c.200G>T (p.Arg67Leu)
17g.70175240G>ACA501700335KCNJ2c.201G>A (p.Arg67=)
17g.70175240G>CCA501700336KCNJ2c.201G>C (p.Arg67=)
17g.70175240G>TCA501700337KCNJ2c.201G>T (p.Arg67=)
17g.70175241T>ACA400860096KCNJ2c.202T>A (p.Tyr68Asn)
17g.70175241T>CCA400860095KCNJ2c.202T>C (p.Tyr68His)
17g.70175241T>GCA329639KCNJ2c.202T>G (p.Tyr68Asp)
ClinVar dbSNP
17g.70175241T=CA2272996483KCNJ2c.202T= (p.Tyr68=)
17g.70175242A>CCA400860097KCNJ2c.203A>C (p.Tyr68Ser)
17g.70175242A>GCA400860098KCNJ2c.203A>G (p.Tyr68Cys)
ClinVar dbSNP COSMIC
17g.70175242A>TCA400860099KCNJ2c.203A>T (p.Tyr68Phe)
17g.70175243C>ACA400860100KCNJ2c.204C>A (p.Tyr68Ter)
COSMIC
17g.70175243C>GCA400860101KCNJ2c.204C>G (p.Tyr68Ter)
17g.70175243C>TCA501700338KCNJ2c.204C>T (p.Tyr68=)
gnomAD v4
17g.70175244C>ACA400860102KCNJ2c.205C>A (p.Leu69Ile)
17g.70175244C>GCA400860103KCNJ2c.205C>G (p.Leu69Val)
17g.70175244C>TCA400860104KCNJ2c.205C>T (p.Leu69Phe)
ClinVar
17g.70175245T>ACA400860105KCNJ2c.206T>A (p.Leu69His)
17g.70175245T>CCA400860106KCNJ2c.206T>C (p.Leu69Pro)
17g.70175245T>GCA400860107KCNJ2c.206T>G (p.Leu69Arg)
17g.70175246C>ACA501700339KCNJ2c.207C>A (p.Leu69=)
17g.70175246C=CA2272996484KCNJ2c.207C= (p.Leu69=)
17g.70175246C>GCA293702905KCNJ2c.207C>G (p.Leu69=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175246C>TCA501700340KCNJ2c.207C>T (p.Leu69=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.70175247G>ACA302020KCNJ2c.208G>A (p.Ala70Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175247G>CCA400860108KCNJ2c.208G>C (p.Ala70Pro)
dbSNP
17g.70175247G=CA2272996485KCNJ2c.208G= (p.Ala70=)
17g.70175247G>TCA8738699KCNJ2c.208G>T (p.Ala70Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175248C>ACA400860109KCNJ2c.209C>A (p.Ala70Glu)
17g.70175248C>GCA400860110KCNJ2c.209C>G (p.Ala70Gly)
17g.70175248C>TCA400860111KCNJ2c.209C>T (p.Ala70Val)
17g.70175249A>CCA501700342KCNJ2c.210A>C (p.Ala70=)
17g.70175249A>GCA501700344KCNJ2c.210A>G (p.Ala70=)
17g.70175249A>TCA501700346KCNJ2c.210A>T (p.Ala70=)
17g.70175250G>ACA329642KCNJ2c.211G>A (p.Asp71Asn)
ClinVar dbSNP
17g.70175250G>CCA085820KCNJ2c.211G>C (p.Asp71His)
ClinVar dbSNP
17g.70175250G=CA2272996486KCNJ2c.211G= (p.Asp71=)
17g.70175250G>TCA400860112KCNJ2c.211G>T (p.Asp71Tyr)
17g.70175251A=CA2272996487KCNJ2c.212A= (p.Asp71=)
17g.70175251A>CCA400860113KCNJ2c.212A>C (p.Asp71Ala)
17g.70175251A>GCA400860114KCNJ2c.212A>G (p.Asp71Gly)
17g.70175251A>TCA254592KCNJ2c.212A>T (p.Asp71Val)
ClinVar dbSNP
17g.70175252C>ACA400860115KCNJ2c.213C>A (p.Asp71Glu)
17g.70175252C=CA2272996488KCNJ2c.213C= (p.Asp71=)
17g.70175252C>GCA400860116KCNJ2c.213C>G (p.Asp71Glu)
17g.70175252C>TCA8738700KCNJ2c.213C>T (p.Asp71=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175253A=CA2272996489KCNJ2c.214A= (p.Ile72=)
17g.70175253A>CCA400860119KCNJ2c.214A>C (p.Ile72Leu)
17g.70175253A>GCA400860117KCNJ2c.214A>G (p.Ile72Val)
ClinVar
17g.70175253A>TCA400860118KCNJ2c.214A>T (p.Ile72Phe)
dbSNP
17g.70175254T>ACA400860120KCNJ2c.215T>A (p.Ile72Asn)
17g.70175254T>CCA400860121KCNJ2c.215T>C (p.Ile72Thr)
17g.70175254T>GCA400860122KCNJ2c.215T>G (p.Ile72Ser)
17g.70175255C>ACA501700352KCNJ2c.216C>A (p.Ile72=)
17g.70175255C=CA2272996490KCNJ2c.216C= (p.Ile72=)
17g.70175255C>GCA8738701KCNJ2c.216C>G (p.Ile72Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175255C>TCA501700356KCNJ2c.216C>T (p.Ile72=)
COSMIC
17g.70175256T>ACA400860123KCNJ2c.217T>A (p.Phe73Ile)
17g.70175256T>CCA400860124KCNJ2c.217T>C (p.Phe73Leu)
17g.70175256T>GCA400860125KCNJ2c.217T>G (p.Phe73Val)
17g.70175257T>ACA400860126KCNJ2c.218T>A (p.Phe73Tyr)
17g.70175257T>CCA400860127KCNJ2c.218T>C (p.Phe73Ser)
17g.70175257T>GCA400860128KCNJ2c.218T>G (p.Phe73Cys)
17g.70175258C>ACA400860129KCNJ2c.219C>A (p.Phe73Leu)
COSMIC
17g.70175258C=CA2272996491KCNJ2c.219C= (p.Phe73=)
17g.70175258C>GCA400860130KCNJ2c.219C>G (p.Phe73Leu)
17g.70175258C>TCA501700360KCNJ2c.219C>T (p.Phe73=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175261_70175263dupCA913184886KCNJ2c.222_224dup (p.Thr75_Cys76insThr)
17g.70175259A=CA2272996492KCNJ2c.220A= (p.Thr74=)
17g.70175259A>CCA400860132KCNJ2c.220A>C (p.Thr74Pro)
17g.70175259A>GCA329645KCNJ2c.220A>G (p.Thr74Ala)
ClinVar dbSNP gnomAD v4
17g.70175259A>TCA400860131KCNJ2c.220A>T (p.Thr74Ser)
17g.70175260C>ACA400860134KCNJ2c.221C>A (p.Thr74Asn)
17g.70175260C>GCA400860133KCNJ2c.221C>G (p.Thr74Ser)
17g.70175260C>TCA400860135KCNJ2c.221C>T (p.Thr74Ile)
gnomAD v4
17g.70175261C>ACA501700366KCNJ2c.222C>A (p.Thr74=)
17g.70175261C=CA2272996493KCNJ2c.222C= (p.Thr74=)
17g.70175261C>GCA501700367KCNJ2c.222C>G (p.Thr74=)
17g.70175261C>TCA293702906KCNJ2c.222C>T (p.Thr74=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175262A=CA2272996494KCNJ2c.223A= (p.Thr75=)
17g.70175262A>CCA400860136KCNJ2c.223A>C (p.Thr75Pro)
17g.70175262A>GCA329648KCNJ2c.223A>G (p.Thr75Ala)
ClinVar dbSNP
17g.70175262A>TCA400860137KCNJ2c.223A>T (p.Thr75Ser)
17g.70175263C>ACA400860138KCNJ2c.224C>A (p.Thr75Lys)
ClinVar COSMIC
17g.70175263C=CA2272996495KCNJ2c.224C= (p.Thr75=)
17g.70175263C>GCA254602KCNJ2c.224C>G (p.Thr75Arg)
ClinVar dbSNP
17g.70175263C>TCA302067KCNJ2c.224C>T (p.Thr75Met)
ClinVar dbSNP COSMIC
17g.70175264G>ACA8738702KCNJ2c.225G>A (p.Thr75=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175264G>CCA501700370KCNJ2c.225G>C (p.Thr75=)
17g.70175264G=CA2272996496KCNJ2c.225G= (p.Thr75=)
17g.70175264G>TCA8738703KCNJ2c.225G>T (p.Thr75=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175265T>ACA400860139KCNJ2c.226T>A (p.Cys76Ser)
17g.70175265T>CCA400860140KCNJ2c.226T>C (p.Cys76Arg)
ClinVar
17g.70175265T>GCA302023KCNJ2c.226T>G (p.Cys76Gly)
ClinVar dbSNP
17g.70175265T=CA2272996497KCNJ2c.226T= (p.Cys76=)
17g.70175266G>ACA400860143KCNJ2c.227G>A (p.Cys76Tyr)
17g.70175266G>CCA400860142KCNJ2c.227G>C (p.Cys76Ser)
COSMIC
17g.70175266G>TCA400860141KCNJ2c.227G>T (p.Cys76Phe)
17g.70175267T>ACA400860144KCNJ2c.228T>A (p.Cys76Ter)
17g.70175267T>CCA501700374KCNJ2c.228T>C (p.Cys76=)
17g.70175267T>GCA400860145KCNJ2c.228T>G (p.Cys76Trp)
17g.70175268G>ACA400860146KCNJ2c.229G>A (p.Val77Met)
17g.70175268G>CCA400860147KCNJ2c.229G>C (p.Val77Leu)
17g.70175268G>TCA400860148KCNJ2c.229G>T (p.Val77Leu)
17g.70175269T>ACA400860149KCNJ2c.230T>A (p.Val77Glu)
17g.70175269T>CCA400860150KCNJ2c.230T>C (p.Val77Ala)
17g.70175269T>GCA400860151KCNJ2c.230T>G (p.Val77Gly)
17g.70175270G>ACA8738704KCNJ2c.231G>A (p.Val77=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175270G>CCA501700382KCNJ2c.231G>C (p.Val77=)
gnomAD v4
17g.70175270G=CA2272996498KCNJ2c.231G= (p.Val77=)
17g.70175270G>TCA501700381KCNJ2c.231G>T (p.Val77=)
17g.70175271G>ACA400860152KCNJ2c.232G>A (p.Asp78Asn)
ClinVar
17g.70175271G>CCA400860153KCNJ2c.232G>C (p.Asp78His)
ClinVar dbSNP
17g.70175271G=CA2272996499KCNJ2c.232G= (p.Asp78=)
17g.70175271G>TCA329651KCNJ2c.232G>T (p.Asp78Tyr)
ClinVar dbSNP
17g.70175272A=CA2272996500KCNJ2c.233A= (p.Asp78=)
17g.70175272A>CCA400860155KCNJ2c.233A>C (p.Asp78Ala)
17g.70175272A>GCA329654KCNJ2c.233A>G (p.Asp78Gly)
ClinVar dbSNP
17g.70175272A>TCA400860154KCNJ2c.233A>T (p.Asp78Val)
gnomAD v4
17g.70175273C>ACA400860156KCNJ2c.234C>A (p.Asp78Glu)
17g.70175273C=CA2272996501KCNJ2c.234C= (p.Asp78=)
17g.70175273C>GCA400860157KCNJ2c.234C>G (p.Asp78Glu)
17g.70175273C>TCA501700391KCNJ2c.234C>T (p.Asp78=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175274A>CCA400860158KCNJ2c.235A>C (p.Ile79Leu)
17g.70175274A>GCA400860159KCNJ2c.235A>G (p.Ile79Val)
ClinVar
17g.70175274A>TCA400860160KCNJ2c.235A>T (p.Ile79Phe)
17g.70175275T>ACA400860161KCNJ2c.236T>A (p.Ile79Asn)
17g.70175275T>CCA302026KCNJ2c.236T>C (p.Ile79Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175275T>GCA400860162KCNJ2c.236T>G (p.Ile79Ser)
17g.70175275T=CA2272996502KCNJ2c.236T= (p.Ile79=)
17g.70175276T>ACA501700395KCNJ2c.237T>A (p.Ile79=)
17g.70175276T>CCA501700396KCNJ2c.237T>C (p.Ile79=)
17g.70175276T>GCA400860163KCNJ2c.237T>G (p.Ile79Met)
17g.70175277C>ACA400860164KCNJ2c.238C>A (p.Arg80Ser)
gnomAD v4
17g.70175277C=CA2272996503KCNJ2c.238C= (p.Arg80=)
17g.70175277C>GCA400860165KCNJ2c.238C>G (p.Arg80Gly)
17g.70175277C>TCA400860166KCNJ2c.238C>T (p.Arg80Cys)
ClinVar dbSNP
17g.70175278G>ACA400860168KCNJ2c.239G>A (p.Arg80His)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175278G>CCA400860169KCNJ2c.239G>C (p.Arg80Pro)
17g.70175278G>TCA400860167KCNJ2c.239G>T (p.Arg80Leu)
17g.70175279C>ACA501700402KCNJ2c.240C>A (p.Arg80=)
gnomAD v4
17g.70175279C>GCA501700403KCNJ2c.240C>G (p.Arg80=)
gnomAD v4
17g.70175279C>TCA501700404KCNJ2c.240C>T (p.Arg80=)
17g.70175280T>ACA400860170KCNJ2c.241T>A (p.Trp81Arg)
17g.70175280T>CCA400860171KCNJ2c.241T>C (p.Trp81Arg)
17g.70175280T>GCA400860172KCNJ2c.241T>G (p.Trp81Gly)
17g.70175281G>ACA400860173KCNJ2c.242G>A (p.Trp81Ter)
17g.70175281G>CCA400860174KCNJ2c.242G>C (p.Trp81Ser)
COSMIC
17g.70175281G>TCA400860175KCNJ2c.242G>T (p.Trp81Leu)
17g.70175282G>ACA400860178KCNJ2c.243G>A (p.Trp81Ter)
17g.70175282G>CCA400860176KCNJ2c.243G>C (p.Trp81Cys)
17g.70175282G>TCA400860177KCNJ2c.243G>T (p.Trp81Cys)
17g.70175283C>ACA501700409KCNJ2c.244C>A (p.Arg82=)
ClinVar
17g.70175283C=CA2272996504KCNJ2c.244C= (p.Arg82=)
17g.70175283C>GCA400860179KCNJ2c.244C>G (p.Arg82Gly)
17g.70175283C>TCA145013KCNJ2c.244C>T (p.Arg82Trp)
ClinVar dbSNP gnomAD v4
17g.70175284G>ACA329657KCNJ2c.245G>A (p.Arg82Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175284G>CCA400860180KCNJ2c.245G>C (p.Arg82Pro)
17g.70175284G=CA2272996505KCNJ2c.245G= (p.Arg82=)
17g.70175284G>TCA400860181KCNJ2c.245G>T (p.Arg82Leu)
17g.70175285G>ACA501700412KCNJ2c.246G>A (p.Arg82=)
ClinVar
17g.70175285G>CCA501700413KCNJ2c.246G>C (p.Arg82=)
17g.70175285G>TCA501700416KCNJ2c.246G>T (p.Arg82=)
gnomAD v4
17g.70175286T>ACA400860184KCNJ2c.247T>A (p.Trp83Arg)
17g.70175286T>CCA400860183KCNJ2c.247T>C (p.Trp83Arg)
17g.70175286T>GCA400860182KCNJ2c.247T>G (p.Trp83Gly)
17g.70175287G>ACA400860185KCNJ2c.248G>A (p.Trp83Ter)
17g.70175287G>CCA400860187KCNJ2c.248G>C (p.Trp83Ser)
17g.70175287G>TCA400860186KCNJ2c.248G>T (p.Trp83Leu)
17g.70175288G>ACA400860188KCNJ2c.249G>A (p.Trp83Ter)
17g.70175288G>CCA400860189KCNJ2c.249G>C (p.Trp83Cys)
17g.70175288G>TCA400860190KCNJ2c.249G>T (p.Trp83Cys)
17g.70175289A>CCA400860191KCNJ2c.250A>C (p.Met84Leu)
17g.70175289A>GCA400860192KCNJ2c.250A>G (p.Met84Val)
17g.70175289A>TCA400860193KCNJ2c.250A>T (p.Met84Leu)
17g.70175290T>ACA400860194KCNJ2c.251T>A (p.Met84Lys)
17g.70175290T>CCA400860195KCNJ2c.251T>C (p.Met84Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175290T>GCA400860196KCNJ2c.251T>G (p.Met84Arg)
17g.70175290T=CA2272996506KCNJ2c.251T= (p.Met84=)
17g.70175291G>ACA400860197KCNJ2c.252G>A (p.Met84Ile)
ClinVar
17g.70175291G>CCA400860198KCNJ2c.252G>C (p.Met84Ile)
17g.70175291G>TCA400860199KCNJ2c.252G>T (p.Met84Ile)
17g.70175292C>ACA400860200KCNJ2c.253C>A (p.Leu85Met)
17g.70175292C=CA2272996507KCNJ2c.253C= (p.Leu85=)
17g.70175292C>GCA293702907KCNJ2c.253C>G (p.Leu85Val)
dbSNP
17g.70175292C>TCA501700431KCNJ2c.253C>T (p.Leu85=)
17g.70175293T>ACA400860201KCNJ2c.254T>A (p.Leu85Gln)
17g.70175293T>CCA400860202KCNJ2c.254T>C (p.Leu85Pro)
17g.70175293T>GCA400860203KCNJ2c.254T>G (p.Leu85Arg)
17g.70175294G>ACA501700435KCNJ2c.255G>A (p.Leu85=)
17g.70175294G>CCA501700436KCNJ2c.255G>C (p.Leu85=)
17g.70175294G>TCA501700437KCNJ2c.255G>T (p.Leu85=)
17g.70175295G>ACA400860204KCNJ2c.256G>A (p.Val86Ile)
ClinVar COSMIC
17g.70175295G>CCA400860205KCNJ2c.256G>C (p.Val86Leu)
17g.70175295G=CA2272996508KCNJ2c.256G= (p.Val86=)
17g.70175295G>TCA302029KCNJ2c.256G>T (p.Val86Phe)
ClinVar dbSNP
17g.70175296T>ACA400860206KCNJ2c.257T>A (p.Val86Asp)
17g.70175296T>CCA400860207KCNJ2c.257T>C (p.Val86Ala)
17g.70175296T>GCA400860208KCNJ2c.257T>G (p.Val86Gly)
17g.70175297T>ACA501700444KCNJ2c.258T>A (p.Val86=)
17g.70175297T>CCA501700445KCNJ2c.258T>C (p.Val86=)
17g.70175297T>GCA501700446KCNJ2c.258T>G (p.Val86=)
17g.70175298A=CA2272996509KCNJ2c.259A= (p.Ile87=)
17g.70175298A>CCA400860209KCNJ2c.259A>C (p.Ile87Leu)
17g.70175298A>GCA8738705KCNJ2c.259A>G (p.Ile87Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.70175298A>TCA400860210KCNJ2c.259A>T (p.Ile87Phe)
17g.70175299T>ACA400860213KCNJ2c.260T>A (p.Ile87Asn)
17g.70175299T>CCA400860212KCNJ2c.260T>C (p.Ile87Thr)
17g.70175299T>GCA400860211KCNJ2c.260T>G (p.Ile87Ser)
17g.70175300C>ACA501700451KCNJ2c.261C>A (p.Ile87=)
17g.70175300C=CA2272996510KCNJ2c.261C= (p.Ile87=)
17g.70175300C>GCA400860214KCNJ2c.261C>G (p.Ile87Met)
ClinVar
17g.70175300C>TCA501700455KCNJ2c.261C>T (p.Ile87=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175301T>ACA400860215KCNJ2c.262T>A (p.Phe88Ile)
17g.70175301T>CCA400860216KCNJ2c.262T>C (p.Phe88Leu)
17g.70175301T>GCA400860217KCNJ2c.262T>G (p.Phe88Val)
17g.70175302T>ACA400860218KCNJ2c.263T>A (p.Phe88Tyr)
17g.70175302T>CCA400860219KCNJ2c.263T>C (p.Phe88Ser)
17g.70175302T>GCA400860220KCNJ2c.263T>G (p.Phe88Cys)
17g.70175303C>ACA400860221KCNJ2c.264C>A (p.Phe88Leu)
17g.70175303C>GCA400860222KCNJ2c.264C>G (p.Phe88Leu)
17g.70175303C>TCA501700462KCNJ2c.264C>T (p.Phe88=)
17g.70175304T>ACA400860223KCNJ2c.265T>A (p.Cys89Ser)
17g.70175304T>CCA400860224KCNJ2c.265T>C (p.Cys89Arg)
ClinVar
17g.70175304T>GCA400860225KCNJ2c.265T>G (p.Cys89Gly)
17g.70175305G>ACA400860227KCNJ2c.266G>A (p.Cys89Tyr)
17g.70175305G>CCA400860228KCNJ2c.266G>C (p.Cys89Ser)
17g.70175305G>TCA400860226KCNJ2c.266G>T (p.Cys89Phe)
17g.70175305_70175317delinsGCCTGGCTTTCGTCA2272996511KCNJ2c.266_278delinsGCCTGGCTTTCGT (p.Cys89=)
17g.70175306C>ACA400860229KCNJ2c.267C>A (p.Cys89Ter)
17g.70175306C=CA2272996512KCNJ2c.267C= (p.Cys89=)
17g.70175306C>GCA400860230KCNJ2c.267C>G (p.Cys89Trp)
17g.70175306C>TCA501700469KCNJ2c.267C>T (p.Cys89=)
ClinVar dbSNP gnomAD v4
17g.70175310_70175321delCA347345KCNJ2c.271_282del (p.Ala91_Leu94del)
ClinVar dbSNP
17g.70175307C>ACA400860231KCNJ2c.268C>A (p.Leu90Met)
17g.70175307C>GCA400860232KCNJ2c.268C>G (p.Leu90Val)
17g.70175307C>TCA501700472KCNJ2c.268C>T (p.Leu90=)
17g.70175308T>ACA400860235KCNJ2c.269T>A (p.Leu90Gln)
17g.70175308T>CCA400860234KCNJ2c.269T>C (p.Leu90Pro)
17g.70175308T>GCA400860233KCNJ2c.269T>G (p.Leu90Arg)
17g.70175309G>ACA501700476KCNJ2c.270G>A (p.Leu90=)
17g.70175309G>CCA501700477KCNJ2c.270G>C (p.Leu90=)
17g.70175309G>TCA501700479KCNJ2c.270G>T (p.Leu90=)
17g.70175310G>ACA400860236KCNJ2c.271G>A (p.Ala91Thr)
ClinVar dbSNP
17g.70175310G>CCA400860237KCNJ2c.271G>C (p.Ala91Pro)
17g.70175310G>TCA400860238KCNJ2c.271G>T (p.Ala91Ser)
COSMIC
17g.70175311C>ACA400860239KCNJ2c.272C>A (p.Ala91Asp)
17g.70175311C=CA2272996513KCNJ2c.272C= (p.Ala91=)
17g.70175311C>GCA400860240KCNJ2c.272C>G (p.Ala91Gly)
17g.70175311C>TCA8738706KCNJ2c.272C>T (p.Ala91Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched