| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46601457A>G | CA503986134 | LOXHD1 | c.894T>C (p.Tyr298=) n.207T>C | dbSNP |
| 18 | g.46601457A>C | CA10605528 | LOXHD1 | c.894T>G (p.Tyr298Ter) n.207T>G | ClinVar dbSNP gnomAD v4 |
| 18 | g.46601457A= | CA2300907732 | LOXHD1 | c.894T= (p.Tyr298=) n.207T= | dbSNP |