| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26444262A>G | CA1562130 | DRC1 | c.1069A>G (p.Lys357Glu) c.915A>G c.*382A>G (n.*382A>G) n.670A>G c.451A>G (p.Lys151Glu) c.49A>G (p.Lys17Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26444262A>C | CA346109215 | DRC1 | c.1069A>C (p.Lys357Gln) c.915A>C c.*382A>C (n.*382A>C) n.670A>C c.451A>C (p.Lys151Gln) c.49A>C (p.Lys17Gln) | dbSNP |