Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.70170730_70175461delCA1139665860KCNJ2c.-217+1029_422del
c.-217+1873_422del
ClinVar
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)

Number of alleles fetched