Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.30233692C>TCA473783156ARL14EP-DT,FSHBc.282C>T (p.Tyr94=)
n.463+83198G>A
n.284+83198G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.30233692C>ACA126289ARL14EP-DT,FSHBc.282C>A (p.Tyr94Ter)
n.463+83198G>T
n.284+83198G>T
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched