| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108272729C>A | CA16619155 | ATM | c.3161C>A (p.Pro1054His) c.*2632C>A (n.*2632C>A) n.3311C>A c.2996C>A (p.Pro999His) c.2117C>A (p.Pro706His) c.1853C>A (p.Pro618His) n.3894C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108272729C>G | CA157098 | ATM | c.3161C>G (p.Pro1054Arg) c.*2632C>G (n.*2632C>G) n.3311C>G c.2996C>G (p.Pro999Arg) c.2117C>G (p.Pro706Arg) c.1853C>G (p.Pro618Arg) n.3894C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |