| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108289005C>T | CA157116 | ATM | c.4138C>T (p.His1380Tyr) c.*3609C>T (n.*3609C>T) n.1401C>T n.4288C>T c.3973C>T (p.His1325Tyr) n.353C>T c.145C>T (p.His49Tyr) n.567C>T c.94C>T (p.His32Tyr) c.3094C>T (p.His1032Tyr) c.2830C>T (p.His944Tyr) n.4871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.108289005C>G | CA382529894 | ATM | c.4138C>G (p.His1380Asp) c.*3609C>G (n.*3609C>G) n.1401C>G n.4288C>G c.3973C>G (p.His1325Asp) n.353C>G c.145C>G (p.His49Asp) n.567C>G c.94C>G (p.His32Asp) c.3094C>G (p.His1032Asp) c.2830C>G (p.His944Asp) n.4871C>G | ClinVar dbSNP |