| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23536811G>A | CA242024 | NPC1 | c.3107C>T (p.Thr1036Met) c.2185C>T n.740C>T n.450C>T c.3158C>T (p.Thr1053Met) c.2693C>T (p.Thr898Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23536811G= | CA2290164487 | NPC1 | c.3107C= (p.Thr1036=) c.2185C= n.740C= n.450C= c.3158C= (p.Thr1053=) c.2693C= (p.Thr898=) | dbSNP |
| 18 | g.23536811G>C | CA401791926 | NPC1 | c.3107C>G (p.Thr1036Arg) c.2185C>G n.740C>G n.450C>G c.3158C>G (p.Thr1053Arg) c.2693C>G (p.Thr898Arg) | dbSNP |