| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108281133A>T | CA16041401 | ATM | c.3541A>T (p.Lys1181Ter) c.*3012A>T (n.*3012A>T) n.3691A>T c.3376A>T (p.Lys1126Ter) c.2497A>T (p.Lys833Ter) c.2233A>T (p.Lys745Ter) n.4274A>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.108281133A= | CA1998789116 | ATM | c.3541A= (p.Lys1181=) c.*3012A= (n.*3012A=) n.3691A= c.3376A= (p.Lys1126=) c.2497A= (p.Lys833=) c.2233A= (p.Lys745=) n.4274A= | dbSNP |
| 11 | g.108281133A>G | CA382520283 | ATM | c.3541A>G (p.Lys1181Glu) c.*3012A>G (n.*3012A>G) n.3691A>G c.3376A>G (p.Lys1126Glu) c.2497A>G (p.Lys833Glu) c.2233A>G (p.Lys745Glu) n.4274A>G | ClinVar dbSNP |