Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89227904C>ACA227500TYRc.1118C>A (p.Thr373Lys)
n.2717+43556G>T
n.2732+43556G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.89227904C=CA1989952169TYRc.1118C= (p.Thr373=)
n.2717+43556G=
n.2732+43556G=
dbSNP

Number of alleles fetched