| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23354931del | CA16041651 | SACS | c.1681del (p.Val561Ter) n.1819del c.1672del (p.Val558Ter) n.4038del c.-570del (n.-570del) c.553del (p.Val185Ter) c.1379del c.1240del (p.Val414Ter) c.1705del (p.Val569Ter) | ClinVar dbSNP |
| 13 | g.23354931C= | CA3200933604 | SACS | c.1681G= (p.Val561=) n.1819G= c.1672G= (p.Val558=) n.4038G= c.-570G= (n.-570G=) c.553G= (p.Val185=) c.1379G= c.1240G= (p.Val414=) c.1705G= (p.Val569=) | dbSNP |