| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90782869C>A | CA393845693 | BLM | c.2603C>A (p.Pro868Gln) c.*1527C>A (n.*1527C>A) n.629C>A c.1478C>A (p.Pro493Gln) c.641C>A (p.Pro214Gln) c.1289C>A (p.Pro430Gln) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90782869C>T | CA090891 | BLM | c.2603C>T (p.Pro868Leu) c.*1527C>T (n.*1527C>T) n.629C>T c.1478C>T (p.Pro493Leu) c.641C>T (p.Pro214Leu) c.1289C>T (p.Pro430Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90782869C>G | CA7738826 | BLM | c.2603C>G (p.Pro868Arg) c.*1527C>G (n.*1527C>G) n.629C>G c.1478C>G (p.Pro493Arg) c.641C>G (p.Pro214Arg) c.1289C>G (p.Pro430Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.90782869C= | CA2195287529 | BLM | c.2603C= (p.Pro868=) c.*1527C= (n.*1527C=) n.629C= c.1478C= (p.Pro493=) c.641C= (p.Pro214=) c.1289C= (p.Pro430=) | dbSNP |