| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23560391G>A | CA16620670 | NPC1 | c.721C>T (p.Gln241Ter) n.635C>T c.256C>T (p.Gln86Ter) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23560391G= | CA2290175731 | NPC1 | c.721C= (p.Gln241=) n.635C= c.256C= (p.Gln86=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23560391G>A | CA16620670 | NPC1 | c.721C>T (p.Gln241Ter) n.635C>T c.256C>T (p.Gln86Ter) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23560391G= | CA2290175731 | NPC1 | c.721C= (p.Gln241=) n.635C= c.256C= (p.Gln86=) | dbSNP |