Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131851228A>GCA365661974ENPP1c.517A>G (p.Lys173Glu)
c.195A>G
c.108+1122A>G
n.537A>G
dbSNP gnomAD v3 gnomAD v4
6g.131851228A>CCA123287ENPP1c.517A>C (p.Lys173Gln)
c.195A>C
c.108+1122A>C
n.537A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched