| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46639685T>A | CA10607035 | LOXHD1 | c.442A>T (p.Lys148Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.46639685T>C | CA402369721 | LOXHD1 | c.442A>G (p.Lys148Glu) | dbSNP gnomAD v4 |
| 18 | g.46639685T= | CA2300925012 | LOXHD1 | c.442A= (p.Lys148=) | dbSNP |