| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23568889del | CA16041924 | NPC1 | c.397del (p.Val133LeufsTer9) n.311del c.-69del (n.-69del) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23568889C= | CA3229117683 | NPC1 | c.397G= (p.Val133=) n.311G= c.-69G= (n.-69G=) | dbSNP dbSNP |