| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23568853G>A | CA16041923 | NPC1 | c.433C>T (p.Gln145Ter) n.347C>T c.-33C>T (n.-33C>T) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23568853G= | CA2290179908 | NPC1 | c.433C= (p.Gln145=) n.347C= c.-33C= (n.-33C=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23568853G>A | CA16041923 | NPC1 | c.433C>T (p.Gln145Ter) n.347C>T c.-33C>T (n.-33C>T) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23568853G= | CA2290179908 | NPC1 | c.433C= (p.Gln145=) n.347C= c.-33C= (n.-33C=) | dbSNP |