| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128250350G>C | CA16618756 | DNM1 | c.2312G>C (p.Gly771Ala) c.1927+20G>C n.2760G>C c.2225G>C (p.Gly742Ala) c.2300G>C (p.Gly767Ala) n.2408+20G>C n.2384+20G>C | ClinVar dbSNP |
| 9 | g.128250350G= | CA1880212351 | DNM1 | c.2312G= (p.Gly771=) c.1927+20G= n.2760G= c.2225G= (p.Gly742=) c.2300G= (p.Gly767=) n.2408+20G= n.2384+20G= | dbSNP |
| 9 | g.128250350G>A | CA375001347 | DNM1 | c.2312G>A (p.Gly771Glu) c.1927+20G>A n.2760G>A c.2225G>A (p.Gly742Glu) c.2300G>A (p.Gly767Glu) n.2408+20G>A n.2384+20G>A | dbSNP gnomAD v4 |