| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132281483G>T | CA375333427 | SETX | c.6638C>A (p.Pro2213Gln) c.1364C>A (p.Pro455Gln) n.6554C>A c.1091C>A (p.Pro364Gln) n.6193C>A | ClinVar dbSNP |
| 9 | g.132281483G>A | CA252178 | SETX | c.6638C>T (p.Pro2213Leu) c.1364C>T (p.Pro455Leu) n.6554C>T c.1091C>T (p.Pro364Leu) n.6193C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132281483G= | CA1882127729 | SETX | c.6638C= (p.Pro2213=) c.1364C= (p.Pro455=) n.6554C= c.1091C= (p.Pro364=) n.6193C= | dbSNP |