Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
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=)
dbSNP gnomAD v3 gnomAD v4
17g.70175231G>CCA400860076KCNJ2c.192G>C (p.Lys64Asn)

Number of alleles fetched