Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.96287126A>G | CA16606178 | PTDSS1 | c.421A>G (p.Thr141Ala) c.272-7972A>G (n.272-7972A>G) n.495A>G n.317A>G c.4-7972A>G (n.4-7972A>G) | ClinVar dbSNP |
8 | g.96287126A>T | CA371754509 | PTDSS1 | c.421A>T (p.Thr141Ser) c.272-7972A>T (n.272-7972A>T) n.495A>T n.317A>T c.4-7972A>T (n.4-7972A>T) | dbSNP |