Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175169A>CCA501700260KCNJ2c.130A>C (p.Arg44=)
17g.70175169A>GCA400859926KCNJ2c.130A>G (p.Arg44Gly)
17g.70175169A>TCA400859927KCNJ2c.130A>T (p.Arg44Trp)
17g.70175170G>ACA400859928KCNJ2c.131G>A (p.Arg44Lys)
ClinVar dbSNP
17g.70175170G>CCA400859929KCNJ2c.131G>C (p.Arg44Thr)
17g.70175170G>TCA400859930KCNJ2c.131G>T (p.Arg44Met)
17g.70175171G>ACA8738694KCNJ2c.132G>A (p.Arg44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175171G>CCA400859931KCNJ2c.132G>C (p.Arg44Ser)
17g.70175171G=CA2272996457KCNJ2c.132G= (p.Arg44=)
17g.70175171G>TCA400859932KCNJ2c.132G>T (p.Arg44Ser)
17g.70175172A>CCA400859934KCNJ2c.133A>C (p.Ser45Arg)
17g.70175172A>GCA400859935KCNJ2c.133A>G (p.Ser45Gly)
17g.70175172A>TCA400859933KCNJ2c.133A>T (p.Ser45Cys)
gnomAD v4
17g.70175173G>ACA400859936KCNJ2c.134G>A (p.Ser45Asn)
17g.70175173G>CCA400859937KCNJ2c.134G>C (p.Ser45Thr)
17g.70175173G>TCA400859938KCNJ2c.134G>T (p.Ser45Ile)
17g.70175174C>ACA400859939KCNJ2c.135C>A (p.Ser45Arg)
gnomAD v4
17g.70175174C=CA2272996458KCNJ2c.135C= (p.Ser45=)
17g.70175174C>GCA400859940KCNJ2c.135C>G (p.Ser45Arg)
17g.70175174C>TCA501700268KCNJ2c.135C>T (p.Ser45=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175175C>ACA400859941KCNJ2c.136C>A (p.Arg46Ser)
dbSNP
17g.70175175C=CA2272996459KCNJ2c.136C= (p.Arg46=)
17g.70175175C>GCA400859942KCNJ2c.136C>G (p.Arg46Gly)
ClinVar dbSNP
17g.70175175C>TCA400859943KCNJ2c.136C>T (p.Arg46Cys)
ClinVar dbSNP gnomAD v4 COSMIC
17g.70175176G>ACA400859944KCNJ2c.137G>A (p.Arg46His)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.70175176G>CCA400859945KCNJ2c.137G>C (p.Arg46Pro)
gnomAD v4
17g.70175176G=CA2272996460KCNJ2c.137G= (p.Arg46=)
17g.70175176G>TCA400859946KCNJ2c.137G>T (p.Arg46Leu)
17g.70175177C>ACA501700273KCNJ2c.138C>A (p.Arg46=)
17g.70175177C=CA2272996461KCNJ2c.138C= (p.Arg46=)
17g.70175177C>GCA501700274KCNJ2c.138C>G (p.Arg46=)
17g.70175177C>TCA293702901KCNJ2c.138C>T (p.Arg46=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.70175178T>ACA400859949KCNJ2c.139T>A (p.Phe47Ile)
17g.70175178T>CCA400859948KCNJ2c.139T>C (p.Phe47Leu)
17g.70175178T>GCA400859947KCNJ2c.139T>G (p.Phe47Val)
17g.70175179T>ACA400859950KCNJ2c.140T>A (p.Phe47Tyr)
17g.70175179T>CCA400859951KCNJ2c.140T>C (p.Phe47Ser)
17g.70175179T>GCA400859952KCNJ2c.140T>G (p.Phe47Cys)
17g.70175180T>ACA400859953KCNJ2c.141T>A (p.Phe47Leu)
17g.70175180T>CCA501700278KCNJ2c.141T>C (p.Phe47=)
17g.70175180T>GCA400859954KCNJ2c.141T>G (p.Phe47Leu)
17g.70175181G>ACA400859955KCNJ2c.142G>A (p.Val48Met)
ClinVar
17g.70175181G>CCA400859956KCNJ2c.142G>C (p.Val48Leu)
17g.70175181G>TCA400859957KCNJ2c.142G>T (p.Val48Leu)
17g.70175182T>ACA400859958KCNJ2c.143T>A (p.Val48Glu)
17g.70175182T>CCA400859959KCNJ2c.143T>C (p.Val48Ala)
17g.70175182T>GCA400859960KCNJ2c.143T>G (p.Val48Gly)
17g.70175183G>ACA501700284KCNJ2c.144G>A (p.Val48=)
17g.70175183G>CCA501700285KCNJ2c.144G>C (p.Val48=)
17g.70175183G>TCA501700286KCNJ2c.144G>T (p.Val48=)
17g.70175184A>CCA400859963KCNJ2c.145A>C (p.Lys49Gln)
17g.70175184A>GCA400859962KCNJ2c.145A>G (p.Lys49Glu)
17g.70175184A>TCA400859961KCNJ2c.145A>T (p.Lys49Ter)
17g.70175185A>CCA400859964KCNJ2c.146A>C (p.Lys49Thr)
17g.70175185A>GCA400859966KCNJ2c.146A>G (p.Lys49Arg)
gnomAD v4
17g.70175185A>TCA400859965KCNJ2c.146A>T (p.Lys49Met)
17g.70175186G>ACA8738695KCNJ2c.147G>A (p.Lys49=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175186G>CCA400859967KCNJ2c.147G>C (p.Lys49Asn)
17g.70175186G=CA2272996462KCNJ2c.147G= (p.Lys49=)
17g.70175186G>TCA400859968KCNJ2c.147G>T (p.Lys49Asn)
17g.70175187A>CCA400859969KCNJ2c.148A>C (p.Lys50Gln)
gnomAD v4
17g.70175187A>GCA400859970KCNJ2c.148A>G (p.Lys50Glu)
17g.70175187A>TCA400859971KCNJ2c.148A>T (p.Lys50Ter)
17g.70175188A>CCA400859972KCNJ2c.149A>C (p.Lys50Thr)
17g.70175188A>GCA400859973KCNJ2c.149A>G (p.Lys50Arg)
ClinVar dbSNP
17g.70175188A>TCA400859974KCNJ2c.149A>T (p.Lys50Ile)
17g.70175189A>CCA400859975KCNJ2c.150A>C (p.Lys50Asn)
17g.70175189A>GCA501700297KCNJ2c.150A>G (p.Lys50=)
gnomAD v4
17g.70175189A>TCA400859976KCNJ2c.150A>T (p.Lys50Asn)
17g.70175190G>ACA400859979KCNJ2c.151G>A (p.Asp51Asn)
17g.70175190G>CCA400859977KCNJ2c.151G>C (p.Asp51His)
COSMIC
17g.70175190G>TCA400859978KCNJ2c.151G>T (p.Asp51Tyr)
17g.70175191A=CA2272996463KCNJ2c.152A= (p.Asp51=)
17g.70175191A>CCA400859980KCNJ2c.152A>C (p.Asp51Ala)
17g.70175191A>GCA400859981KCNJ2c.152A>G (p.Asp51Gly)
dbSNP
17g.70175191A>TCA400859982KCNJ2c.152A>T (p.Asp51Val)
17g.70175192T>ACA400859983KCNJ2c.153T>A (p.Asp51Glu)
17g.70175192T>CCA501700299KCNJ2c.153T>C (p.Asp51=)
gnomAD v4
17g.70175192T>GCA400859984KCNJ2c.153T>G (p.Asp51Glu)
17g.70175193G>ACA400859985KCNJ2c.154G>A (p.Gly52Ser)
17g.70175193G>CCA400859986KCNJ2c.154G>C (p.Gly52Arg)
17g.70175193G>TCA400859987KCNJ2c.154G>T (p.Gly52Cys)
17g.70175194G>ACA400859988KCNJ2c.155G>A (p.Gly52Asp)
17g.70175194G>CCA400859989KCNJ2c.155G>C (p.Gly52Ala)
17g.70175194G=CA2272996464KCNJ2c.155G= (p.Gly52=)
17g.70175194G>TCA400859990KCNJ2c.155G>T (p.Gly52Val)
ClinVar dbSNP
17g.70175195C>ACA501700302KCNJ2c.156C>A (p.Gly52=)
17g.70175195C>GCA501700303KCNJ2c.156C>G (p.Gly52=)
17g.70175195C>TCA501700304KCNJ2c.156C>T (p.Gly52=)
17g.70175196C>ACA400859992KCNJ2c.157C>A (p.His53Asn)
17g.70175196C>GCA400859993KCNJ2c.157C>G (p.His53Asp)
17g.70175196C>TCA400859991KCNJ2c.157C>T (p.His53Tyr)
17g.70175197A=CA2272996465KCNJ2c.158A= (p.His53=)
17g.70175197A>CCA400859994KCNJ2c.158A>C (p.His53Pro)
17g.70175197A>GCA400859995KCNJ2c.158A>G (p.His53Arg)
ClinVar dbSNP
17g.70175197A>TCA400859996KCNJ2c.158A>T (p.His53Leu)
17g.70175198C>ACA400859997KCNJ2c.159C>A (p.His53Gln)
17g.70175198C>GCA400859998KCNJ2c.159C>G (p.His53Gln)
17g.70175198C>TCA501700316KCNJ2c.159C>T (p.His53=)
17g.70175199T>ACA400859999KCNJ2c.160T>A (p.Cys54Ser)
17g.70175199T>CCA400860000KCNJ2c.160T>C (p.Cys54Arg)
17g.70175199T>GCA400860001KCNJ2c.160T>G (p.Cys54Gly)
ClinVar dbSNP
17g.70175200G>ACA400860002KCNJ2c.161G>A (p.Cys54Tyr)
17g.70175200G>CCA400860003KCNJ2c.161G>C (p.Cys54Ser)
17g.70175200G=CA2272996466KCNJ2c.161G= (p.Cys54=)
17g.70175200G>TCA145011KCNJ2c.161G>T (p.Cys54Phe)
ClinVar dbSNP
17g.70175201T>ACA400860004KCNJ2c.162T>A (p.Cys54Ter)
17g.70175201T>CCA501700317KCNJ2c.162T>C (p.Cys54=)
17g.70175201T>GCA400860005KCNJ2c.162T>G (p.Cys54Trp)
17g.70175201T=CA2272996467KCNJ2c.162T= (p.Cys54=)
17g.70175202A>CCA400860007KCNJ2c.163A>C (p.Asn55His)
17g.70175202A>GCA400860008KCNJ2c.163A>G (p.Asn55Asp)
17g.70175202A>TCA400860006KCNJ2c.163A>T (p.Asn55Tyr)
17g.70175203dupCA293702902KCNJ2c.164dup (p.Asn55LysfsTer9)
dbSNP
17g.70175203A=CA2272996468KCNJ2c.164A= (p.Asn55=)
17g.70175203A>CCA400860009KCNJ2c.164A>C (p.Asn55Thr)
17g.70175203A>GCA400860010KCNJ2c.164A>G (p.Asn55Ser)
17g.70175203A>TCA400860011KCNJ2c.164A>T (p.Asn55Ile)
dbSNP gnomAD v2 gnomAD v4
17g.70175204T>ACA400860012KCNJ2c.165T>A (p.Asn55Lys)
17g.70175204T>CCA8738696KCNJ2c.165T>C (p.Asn55=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175204T>GCA400860013KCNJ2c.165T>G (p.Asn55Lys)
17g.70175204T=CA2272996469KCNJ2c.165T= (p.Asn55=)
17g.70175205G>ACA400860014KCNJ2c.166G>A (p.Val56Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.70175205G>CCA400860015KCNJ2c.166G>C (p.Val56Leu)
17g.70175205G=CA2272996470KCNJ2c.166G= (p.Val56=)
17g.70175205G>TCA400860016KCNJ2c.166G>T (p.Val56Phe)
17g.70175206T>ACA400860017KCNJ2c.167T>A (p.Val56Asp)
17g.70175206T>CCA400860018KCNJ2c.167T>C (p.Val56Ala)
dbSNP
17g.70175206T>GCA400860019KCNJ2c.167T>G (p.Val56Gly)
17g.70175206T=CA2272996471KCNJ2c.167T= (p.Val56=)
17g.70175207T>ACA501700318KCNJ2c.168T>A (p.Val56=)
17g.70175207T>CCA8738697KCNJ2c.168T>C (p.Val56=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.70175207T>GCA501700319KCNJ2c.168T>G (p.Val56=)
17g.70175207T=CA2272996472KCNJ2c.168T= (p.Val56=)
17g.70175208C>ACA400860021KCNJ2c.169C>A (p.Gln57Lys)
17g.70175208C>GCA400860020KCNJ2c.169C>G (p.Gln57Glu)
17g.70175208C>TCA400860022KCNJ2c.169C>T (p.Gln57Ter)
ClinVar
17g.70175209A=CA2272996473KCNJ2c.170A= (p.Gln57=)
17g.70175209A>CCA400860023KCNJ2c.170A>C (p.Gln57Pro)
17g.70175209A>GCA400860024KCNJ2c.170A>G (p.Gln57Arg)
dbSNP gnomAD v2 gnomAD v4
17g.70175209A>TCA400860025KCNJ2c.170A>T (p.Gln57Leu)
17g.70175210G>ACA501700320KCNJ2c.171G>A (p.Gln57=)
17g.70175210G>CCA400860026KCNJ2c.171G>C (p.Gln57His)
dbSNP gnomAD v3 gnomAD v4
17g.70175210G=CA2272996474KCNJ2c.171G= (p.Gln57=)
17g.70175210G>TCA400860027KCNJ2c.171G>T (p.Gln57His)
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)

Number of alleles fetched