| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.30897052T>G | CA449778400 | DDR1 | c.1908T>G (p.Val636=) c.1797T>G (p.Val599=) c.1104T>G (p.Val368=) c.1470T>G (p.Val490=) c.*965T>G (n.*965T>G) c.1851T>G (p.Val617=) c.382T>G c.*25T>G (n.*25T>G) c.1962T>G (p.Val654=) | dbSNP gnomAD v4 |
| 6 | g.30897052T>C | CA3704732 | DDR1 | c.1908T>C (p.Val636=) c.1797T>C (p.Val599=) c.1104T>C (p.Val368=) c.1470T>C (p.Val490=) c.*965T>C (n.*965T>C) c.1851T>C (p.Val617=) c.382T>C c.*25T>C (n.*25T>C) c.1962T>C (p.Val654=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |