| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.100240452T>C | CA4827725 | SPAG1 | c.2330T>C (p.Met777Thr) n.582T>C c.2177T>C (p.Met726Thr) c.2165T>C (p.Met722Thr) n.88+1400A>G c.2435T>C (p.Met812Thr) c.1994T>C (p.Met665Thr) n.2289T>C n.2122T>C n.2316T>C n.86+1400A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.100240452T= | CA1630835194 | SPAG1 | c.2330T= (p.Met777=) n.582T= c.2177T= (p.Met726=) c.2165T= (p.Met722=) n.88+1400A= c.2435T= (p.Met812=) c.1994T= (p.Met665=) n.2289T= n.2122T= n.2316T= n.86+1400A= | dbSNP |