| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46572125G>A | CA251486 | LOXHD1 | c.2008C>T (p.Arg670Ter) n.1321C>T c.169C>T (p.Arg57Ter) c.490C>T (p.Arg164Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.46572125G= | CA2300894585 | LOXHD1 | c.2008C= (p.Arg670=) n.1321C= c.169C= (p.Arg57=) c.490C= (p.Arg164=) | dbSNP |
| 18 | g.46572125G>C | CA402376390 | LOXHD1 | c.2008C>G (p.Arg670Gly) n.1321C>G c.169C>G (p.Arg57Gly) c.490C>G (p.Arg164Gly) | dbSNP |