| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46559495G>A | CA273647 | LOXHD1 | c.3169C>T (p.Arg1057Ter) n.2482C>T c.2599-2006C>T (n.2599-2006C>T) c.1330C>T (p.Arg444Ter) c.1651C>T (p.Arg551Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.46559495G= | CA2300888717 | LOXHD1 | c.3169C= (p.Arg1057=) n.2482C= c.2599-2006C= (n.2599-2006C=) c.1330C= (p.Arg444=) c.1651C= (p.Arg551=) | dbSNP |