| 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 |
| 2 | g.26444262A= | CA1239812059 | DRC1 | c.1069A= (p.Lys357=) c.915A= c.*382A= (n.*382A=) n.670A= c.451A= (p.Lys151=) c.49A= (p.Lys17=) | dbSNP |
| 2 | g.26444262A>T | CA346109219 | DRC1 | c.1069A>T (p.Lys357Ter) c.915A>T c.*382A>T (n.*382A>T) n.670A>T c.451A>T (p.Lys151Ter) c.49A>T (p.Lys17Ter) | dbSNP |