| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.70946126A>G | CA254694 | SMN1 | c.784A>G (p.Ser262Gly) c.688A>G (p.Ser230Gly) n.38A>G n.351A>G c.583A>G (p.Ser195Gly) n.301A>G c.487A>G (p.Ser163Gly) | ClinVar dbSNP |
| 5 | g.70946126A= | CA1554172352 | SMN1 | c.784A= (p.Ser262=) c.688A= (p.Ser230=) n.38A= n.351A= c.583A= (p.Ser195=) n.301A= c.487A= (p.Ser163=) | dbSNP |