| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.137637317C>T | CA129309 | KLHL3 | c.1298G>A (p.Ser433Asn) n.806+1636G>A c.*335-8880G>A (n.*335-8880G>A) c.1178G>A (p.Ser393Asn) c.1052G>A (p.Ser351Asn) n.844+1636G>A c.1202G>A (p.Ser401Asn) | ClinVar dbSNP |
| 5 | g.137637317C= | CA1585515251 | KLHL3 | c.1298G= (p.Ser433=) n.806+1636G= c.*335-8880G= (n.*335-8880G=) c.1178G= (p.Ser393=) c.1052G= (p.Ser351=) n.844+1636G= c.1202G= (p.Ser401=) | dbSNP |