| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.165995090A>C | CA116643 | TLL1 | c.544A>C (p.Met182Leu) c.244A>C (p.Met82Leu) c.*189A>C (n.*189A>C) c.397A>C (p.Met133Leu) c.16A>C (p.Met6Leu) | ClinVar dbSNP |
| 4 | g.165995090A>G | CA16042494 | TLL1 | c.544A>G (p.Met182Val) c.244A>G (p.Met82Val) c.*189A>G (n.*189A>G) c.397A>G (p.Met133Val) c.16A>G (p.Met6Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |