| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90749579C>A | CA344519 | BLM | c.311C>A (p.Ser104Ter) n.485C>A c.-981C>A (n.-981C>A) | ClinVar dbSNP |
| 15 | g.90749579C>T | CA16614769 | BLM | c.311C>T (p.Ser104Leu) n.485C>T c.-981C>T (n.-981C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90749579C= | CA2195277050 | BLM | c.311C= (p.Ser104=) n.485C= c.-981C= (n.-981C=) | dbSNP |