| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.142556439T>C | CA340770 | ATR | c.2022A>G (p.Gly674=) c.*796A>G (n.*796A>G) n.2051A>G c.812A>G n.4380A>G n.4897A>G c.1830A>G (p.Gly610=) c.873A>G (p.Gly291=) n.515A>G n.2111A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.142556439T= | CA1407028402 | ATR | c.2022A= (p.Gly674=) c.*796A= (n.*796A=) n.2051A= c.812A= n.4380A= n.4897A= c.1830A= (p.Gly610=) c.873A= (p.Gly291=) n.515A= n.2111A= | dbSNP |