Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.75479230A>CCA117249CHST6c.599T>G (p.Leu200Arg)
n.733+2587T>G
n.577+2587T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.75479230A=CA2233372471CHST6c.599T= (p.Leu200=)
n.733+2587T=
n.577+2587T=
dbSNP

Number of alleles fetched