| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23586343T>C | CA16041926 | NPC1 | c.1A>G (p.Met1Val) n.145A>G | ClinVar dbSNP gnomAD v4 |
| 18 | g.23586343T= | CA2290188974 | NPC1 | c.1A= (p.Met1=) n.145A= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23586343T>C | CA16041926 | NPC1 | c.1A>G (p.Met1Val) n.145A>G | ClinVar dbSNP gnomAD v4 |
| 18 | g.23586343T= | CA2290188974 | NPC1 | c.1A= (p.Met1=) n.145A= | dbSNP |