| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7820623T>G | CA568248 | PER3 | c.1940T>G (p.Val647Gly) c.1916T>G (p.Val639Gly) c.1919T>G (p.Val640Gly) c.983T>G (p.Val328Gly) c.1937T>G (p.Val646Gly) c.1415T>G (p.Val472Gly) c.1772T>G (p.Val591Gly) c.1592T>G (p.Val531Gly) c.1577T>G (p.Val526Gly) c.1571T>G (p.Val524Gly) c.548T>G (p.Val183Gly) c.1394T>G (p.Val465Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7820623T= | CA1140186318 | PER3 | c.1940T= (p.Val647=) c.1916T= (p.Val639=) c.1919T= (p.Val640=) c.983T= (p.Val328=) c.1937T= (p.Val646=) c.1415T= (p.Val472=) c.1772T= (p.Val591=) c.1592T= (p.Val531=) c.1577T= (p.Val526=) c.1571T= (p.Val524=) c.548T= (p.Val183=) c.1394T= (p.Val465=) | dbSNP |