Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.50360780T>ACA384809279FAM186Ac.559A>T (p.Lys187Ter)
c.412+2365A>T (n.412+2365A>T)
c.130A>T (p.Lys44Ter)
dbSNP gnomAD v4
12g.50360780T>GCA6563439FAM186Ac.559A>C (p.Lys187Gln)
c.412+2365A>C (n.412+2365A>C)
c.130A>C (p.Lys44Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched