| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23556536_23556537del | CA16041918 | NPC1 | c.1033_1034del (p.Phe345LeufsTer?) n.947_948del c.315_316del c.1084_1085del (p.Phe362LeufsTer?) c.619_620del (p.Phe207LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23556537del | CA916083633 | NPC1 | c.1034del (p.Phe345SerfsTer?) n.948del c.316del c.1085del (p.Phe362SerfsTer?) c.620del (p.Phe207SerfsTer?) | ClinVar dbSNP |