| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.49905793G>A | CA9904830 | SPATA2 | c.1389C>T (p.Cys463=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905793G>C | CA408945924 | SPATA2 | c.1389C>G (p.Cys463Trp) | dbSNP |
| 20 | g.49905793G>T | CA408945914 | SPATA2 | c.1389C>A (p.Cys463Ter) | dbSNP |
| 20 | g.49905793G= | CA2368281293 | SPATA2 | c.1389C= (p.Cys463=) | dbSNP |