| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10812273A>C | CA305251409 | DNM2 | n.998A>C c.1567A>C (p.Arg523=) c.1555A>C (p.Arg519=) c.841A>C (p.Arg281=) n.3066A>C n.3755A>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.10812273A>G | CA233294 | DNM2 | n.998A>G c.1567A>G (p.Arg523Gly) c.1555A>G (p.Arg519Gly) c.841A>G (p.Arg281Gly) n.3066A>G n.3755A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.10812273A= | CA2322619035 | DNM2 | n.998A= c.1567A= (p.Arg523=) c.1555A= (p.Arg519=) c.841A= (p.Arg281=) n.3066A= n.3755A= | dbSNP |