| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128219208C>A | CA16618752 | DNM1 | c.545C>A (p.Ala182Asp) c.180C>A c.372C>A n.346C>A n.661C>A n.637C>A | ClinVar dbSNP |
| 9 | g.128219208C= | CA1880161206 | DNM1 | c.545C= (p.Ala182=) c.180C= c.372C= n.346C= n.661C= n.637C= | dbSNP |