Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
17g.70175367C>ACA400860357KCNJ2c.328C>A (p.His110Asn)
17g.70175367C=CA2272996542KCNJ2c.328C= (p.His110=)
17g.70175367C>GCA400860356KCNJ2c.328C>G (p.His110Asp)
17g.70175367C>TCA302032KCNJ2c.328C>T (p.His110Tyr)
ClinVar dbSNP
17g.70175368A=CA2272996543KCNJ2c.329A= (p.His110=)
17g.70175368A>CCA400860358KCNJ2c.329A>C (p.His110Pro)
17g.70175368A>GCA8738717KCNJ2c.329A>G (p.His110Arg)
dbSNP ExAC gnomAD v2
17g.70175368A>TCA400860359KCNJ2c.329A>T (p.His110Leu)
17g.70175369T>ACA400860360KCNJ2c.330T>A (p.His110Gln)
17g.70175369T>CCA501700434KCNJ2c.330T>C (p.His110=)
17g.70175369T>GCA400860361KCNJ2c.330T>G (p.His110Gln)
17g.70175370G>ACA400860362KCNJ2c.331G>A (p.Gly111Arg)
17g.70175370G>CCA400860363KCNJ2c.331G>C (p.Gly111Arg)
17g.70175370G>TCA400860364KCNJ2c.331G>T (p.Gly111Trp)
17g.70175371G>ACA400860365KCNJ2c.332G>A (p.Gly111Glu)
17g.70175371G>CCA400860366KCNJ2c.332G>C (p.Gly111Ala)
17g.70175371G>TCA400860367KCNJ2c.332G>T (p.Gly111Val)
COSMIC
17g.70175372G>ACA501700438KCNJ2c.333G>A (p.Gly111=)
ClinVar dbSNP
17g.70175372G>CCA501700439KCNJ2c.333G>C (p.Gly111=)
17g.70175372G>TCA501700440KCNJ2c.333G>T (p.Gly111=)
17g.70175373G>ACA400860370KCNJ2c.334G>A (p.Asp112Asn)
17g.70175373G>CCA400860368KCNJ2c.334G>C (p.Asp112His)
17g.70175373G>TCA400860369KCNJ2c.334G>T (p.Asp112Tyr)
ClinVar
17g.70175374A>CCA400860371KCNJ2c.335A>C (p.Asp112Ala)
17g.70175374A>GCA400860372KCNJ2c.335A>G (p.Asp112Gly)
17g.70175374A>TCA400860373KCNJ2c.335A>T (p.Asp112Val)
17g.70175375C>ACA400860374KCNJ2c.336C>A (p.Asp112Glu)
17g.70175375C>GCA400860375KCNJ2c.336C>G (p.Asp112Glu)
17g.70175375C>TCA501700447KCNJ2c.336C>T (p.Asp112=)
gnomAD v4
17g.70175376C>ACA400860376KCNJ2c.337C>A (p.Leu113Met)
17g.70175376C>GCA400860377KCNJ2c.337C>G (p.Leu113Val)
17g.70175376C>TCA501700448KCNJ2c.337C>T (p.Leu113=)
gnomAD v4
17g.70175377T>ACA400860378KCNJ2c.338T>A (p.Leu113Gln)
17g.70175377T>CCA400860379KCNJ2c.338T>C (p.Leu113Pro)
17g.70175377T>GCA400860380KCNJ2c.338T>G (p.Leu113Arg)
17g.70175378G>ACA8738718KCNJ2c.339G>A (p.Leu113=)
dbSNP ExAC
17g.70175378G>CCA501700452KCNJ2c.339G>C (p.Leu113=)
17g.70175378G=CA2272996544KCNJ2c.339G= (p.Leu113=)
17g.70175378G>TCA501700453KCNJ2c.339G>T (p.Leu113=)
17g.70175379G>ACA400860382KCNJ2c.340G>A (p.Asp114Asn)
17g.70175379G>CCA400860383KCNJ2c.340G>C (p.Asp114His)
17g.70175379G>TCA400860381KCNJ2c.340G>T (p.Asp114Tyr)
17g.70175380A=CA2272996545KCNJ2c.341A= (p.Asp114=)
17g.70175380A>CCA400860384KCNJ2c.341A>C (p.Asp114Ala)
17g.70175380A>GCA400860385KCNJ2c.341A>G (p.Asp114Gly)
ClinVar dbSNP gnomAD v4
17g.70175380A>TCA400860386KCNJ2c.341A>T (p.Asp114Val)
gnomAD v4
17g.70175381delCA2525407177KCNJ2c.342del (p.Asp114GlufsTer30)
17g.70175381T>ACA400860387KCNJ2c.342T>A (p.Asp114Glu)
17g.70175381T>CCA501700456KCNJ2c.342T>C (p.Asp114=)

Number of alleles fetched