| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46524499C>T | CA8952289 | LOXHD1 | c.1510G>A (p.Gly504Arg) c.1222G>A (p.Gly408Arg) c.4843G>A (p.Gly1615Arg) n.4156G>A c.4225G>A (p.Gly1409Arg) c.1642G>A (p.Gly548Arg) c.3004G>A (p.Gly1002Arg) c.1507G>A (p.Gly503Arg) c.3325G>A (p.Gly1109Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 18 | g.46524499C>G | CA8952288 | LOXHD1 | c.1510G>C (p.Gly504Arg) c.1222G>C (p.Gly408Arg) c.4843G>C (p.Gly1615Arg) n.4156G>C c.4225G>C (p.Gly1409Arg) c.1642G>C (p.Gly548Arg) c.3004G>C (p.Gly1002Arg) c.1507G>C (p.Gly503Arg) c.3325G>C (p.Gly1109Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |