| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102224972A>T | CA371593083 | RRM2B | c.368T>A (p.Phe123Tyr) c.212T>A (p.Phe71Tyr) c.49-10814T>A (n.49-10814T>A) c.48+13855T>A (n.48+13855T>A) c.537T>A c.122+7259T>A (n.122+7259T>A) c.*291T>A (n.*291T>A) c.206T>A (p.Phe69Tyr) c.584T>A (p.Phe195Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102224972A>G | CA345576 | RRM2B | c.368T>C (p.Phe123Ser) c.212T>C (p.Phe71Ser) c.49-10814T>C (n.49-10814T>C) c.48+13855T>C (n.48+13855T>C) c.537T>C c.122+7259T>C (n.122+7259T>C) c.*291T>C (n.*291T>C) c.206T>C (p.Phe69Ser) c.584T>C (p.Phe195Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.102224972A>C | CA371593080 | RRM2B | c.368T>G (p.Phe123Cys) c.212T>G (p.Phe71Cys) c.49-10814T>G (n.49-10814T>G) c.48+13855T>G (n.48+13855T>G) c.537T>G c.122+7259T>G (n.122+7259T>G) c.*291T>G (n.*291T>G) c.206T>G (p.Phe69Cys) c.584T>G (p.Phe195Cys) | dbSNP |