Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.26581971C>A | CA358249 | DPYSL2 | c.357C>A (p.Ser119Arg) c.42C>A (p.Ser14Arg) c.258C>A (p.Ser86Arg) c.-67C>A (n.-67C>A) | ClinVar dbSNP |
8 | g.26581971C>T | CA4686330 | DPYSL2 | c.357C>T (p.Ser119=) c.42C>T (p.Ser14=) c.258C>T (p.Ser86=) c.-67C>T (n.-67C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |