Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.59272465G>ACA118938RAXc.439C>T (p.Gln147Ter)
c.289+453C>T (n.289+453C>T)
n.456C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.59272465G=CA2306832423RAXc.439C= (p.Gln147=)
c.289+453C= (n.289+453C=)
n.456C=
dbSNP

Number of alleles fetched