Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.63072935C>TCA344919TTPAc.358G>A (p.Ala120Thr)
n.232+12883G>A
c.205-8619G>A (n.205-8619G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.63072935C>GCA371333648TTPAc.358G>C (p.Ala120Pro)
n.232+12883G>C
c.205-8619G>C (n.205-8619G>C)
dbSNP

Number of alleles fetched