| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71442319T>A | CA253936 | DHCR7 | c.356A>T (p.His119Leu) c.182A>T (p.His61Leu) c.392A>T (p.His131Leu) n.633A>T c.-230A>T (n.-230A>T) c.260A>T (p.His87Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71442319T>C | CA6162605 | DHCR7 | c.356A>G (p.His119Arg) c.182A>G (p.His61Arg) c.392A>G (p.His131Arg) n.633A>G c.-230A>G (n.-230A>G) c.260A>G (p.His87Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |