Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89227932C>ACA227506TYRc.1146C>A (p.Asn382Lys)
n.2717+43528G>T
n.2732+43528G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.89227932C>TCA6221355TYRc.1146C>T (p.Asn382=)
n.2717+43528G>A
n.2732+43528G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched