| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.70946157A>G | CA254677 | SMN1 | c.815A>G (p.Tyr272Cys) c.719A>G (p.Tyr240Cys) n.69A>G n.382A>G c.614A>G (p.Tyr205Cys) n.332A>G c.518A>G (p.Tyr173Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.70946157A= | CA1554172356 | SMN1 | c.815A= (p.Tyr272=) c.719A= (p.Tyr240=) n.69A= n.382A= c.614A= (p.Tyr205=) n.332A= c.518A= (p.Tyr173=) | dbSNP |