| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90769559C>T | CA274743571 | BLM | c.2528C>T (p.Thr843Ile) c.*1452C>T (n.*1452C>T) n.554C>T c.1403C>T (p.Thr468Ile) c.566C>T (p.Thr189Ile) c.1214C>T (p.Thr405Ile) | ClinVar dbSNP |
| 15 | g.90769559C= | CA2195285900 | BLM | c.2528C= (p.Thr843=) c.*1452C= (n.*1452C=) n.554C= c.1403C= (p.Thr468=) c.566C= (p.Thr189=) c.1214C= (p.Thr405=) | dbSNP |