| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.241878999G>A | CA1481437 | EXO1 | c.1765G>A (p.Glu589Lys) c.1762G>A (p.Glu588Lys) c.1645G>A (p.Glu549Lys) c.802G>A (p.Glu268Lys) n.2350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241878999G>C | CA345460043 | EXO1 | c.1765G>C (p.Glu589Gln) c.1762G>C (p.Glu588Gln) c.1645G>C (p.Glu549Gln) c.802G>C (p.Glu268Gln) n.2350G>C | dbSNP |
| 1 | g.241878999G= | CA1139849645 | EXO1 | c.1765G= (p.Glu589=) c.1762G= (p.Glu588=) c.1645G= (p.Glu549=) c.802G= (p.Glu268=) n.2350G= | dbSNP |