| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23536736A>G | CA340033 | NPC1 | c.3182T>C (p.Ile1061Thr) c.2260T>C n.525T>C c.3233T>C (p.Ile1078Thr) c.2768T>C (p.Ile923Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23536736A= | CA2290164457 | NPC1 | c.3182T= (p.Ile1061=) c.2260T= n.525T= c.3233T= (p.Ile1078=) c.2768T= (p.Ile923=) | dbSNP |