| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108279510G>A | CA6265260 | ATM | c.3304G>A (p.Gly1102Arg) c.*2775G>A (n.*2775G>A) n.3454G>A c.3139G>A (p.Gly1047Arg) c.2260G>A (p.Gly754Arg) c.1996G>A (p.Gly666Arg) n.4037G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108279510G>C | CA382517357 | ATM | c.3304G>C (p.Gly1102Arg) c.*2775G>C (n.*2775G>C) n.3454G>C c.3139G>C (p.Gly1047Arg) c.2260G>C (p.Gly754Arg) c.1996G>C (p.Gly666Arg) n.4037G>C | dbSNP |
| 11 | g.108279510G>T | CA298219 | ATM | c.3304G>T (p.Gly1102Ter) c.*2775G>T (n.*2775G>T) n.3454G>T c.3139G>T (p.Gly1047Ter) c.2260G>T (p.Gly754Ter) c.1996G>T (p.Gly666Ter) n.4037G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |