| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.70946165G>A | CA120725213 | SMN1 | c.823G>A (p.Gly275Ser) c.727G>A (p.Gly243Ser) n.77G>A n.390G>A c.622G>A (p.Gly208Ser) n.340G>A c.526G>A (p.Gly176Ser) | ClinVar dbSNP |
| 5 | g.70946165G= | CA1554172359 | SMN1 | c.823G= (p.Gly275=) c.727G= (p.Gly243=) n.77G= n.390G= c.622G= (p.Gly208=) n.340G= c.526G= (p.Gly176=) | dbSNP |