| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108268443C>G | CA10579065 | ATM | c.2672C>G (p.Ser891Ter) c.*2143C>G (n.*2143C>G) n.2772+1101C>G n.2822C>G c.*1573+1101C>G (n.*1573+1101C>G) c.2507C>G (p.Ser836Ter) n.34C>G c.1628C>G (p.Ser543Ter) c.1364C>G (p.Ser455Ter) n.3405C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.108268443C>T | CA382545109 | ATM | c.2672C>T (p.Ser891Leu) c.*2143C>T (n.*2143C>T) n.2772+1101C>T n.2822C>T c.*1573+1101C>T (n.*1573+1101C>T) c.2507C>T (p.Ser836Leu) n.34C>T c.1628C>T (p.Ser543Leu) c.1364C>T (p.Ser455Leu) n.3405C>T | ClinVar dbSNP |