| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46563166G>A | CA261931 | LOXHD1 | c.2497C>T (p.Arg833Ter) n.1810C>T c.658C>T (p.Arg220Ter) c.979C>T (p.Arg327Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.46563166G>T | CA299795764 | LOXHD1 | c.2497C>A (p.Arg833=) n.1810C>A c.658C>A (p.Arg220=) c.979C>A (p.Arg327=) | dbSNP gnomAD v3 gnomAD v4 |