| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108287687C>T | CA249428 | ATM | c.4081C>T (p.Gln1361Ter) c.*3552C>T (n.*3552C>T) n.1344C>T n.4231C>T c.3916C>T (p.Gln1306Ter) n.296C>T c.88C>T (p.Gln30Ter) n.510C>T c.37C>T (p.Gln13Ter) c.3037C>T (p.Gln1013Ter) c.2773C>T (p.Gln925Ter) n.4814C>T | ClinVar dbSNP COSMIC |
| 11 | g.108287687C>G | CA382528321 | ATM | c.4081C>G (p.Gln1361Glu) c.*3552C>G (n.*3552C>G) n.1344C>G n.4231C>G c.3916C>G (p.Gln1306Glu) n.296C>G c.88C>G (p.Gln30Glu) n.510C>G c.37C>G (p.Gln13Glu) c.3037C>G (p.Gln1013Glu) c.2773C>G (p.Gln925Glu) n.4814C>G | ClinVar dbSNP |