Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89178528C>ACA116436TYRc.575C>A (p.Ser192Tyr)
n.636C>A
n.2718-64995G>T
n.2733-64995G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.89178528C=CA1630855255TYRc.575C= (p.Ser192=)
n.636C=
n.2718-64995G=
n.2733-64995G=
 dbSNP

Number of alleles fetched