Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89178486G>ACA227569TYRc.533G>A (p.Trp178Ter)
n.594G>A
n.2718-64953C>T
n.2733-64953C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.89178486G=CA1989920641TYRc.533G= (p.Trp178=)
n.594G=
n.2718-64953C=
n.2733-64953C=
dbSNP

Number of alleles fetched