| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.44659108dup | CA618006197 | SPG11 | c.642dup (p.Val215CysfsTer4) n.671dup n.587dup n.673dup c.442+1328dup (n.442+1328dup) n.657dup | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.44659108del | CA344375 | SPG11 | c.642del (p.Phe214LeufsTer3) n.671del n.587del n.673del c.442+1328del (n.442+1328del) n.657del | ClinVar dbSNP gnomAD v4 |