| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46560448C>G | CA8952632 | LOXHD1 | c.2696G>C (p.Arg899Pro) n.2009G>C c.2598+2617G>C (n.2598+2617G>C) c.857G>C (p.Arg286Pro) c.1178G>C (p.Arg393Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.46560448C>T | CA299794546 | LOXHD1 | c.2696G>A (p.Arg899Gln) n.2009G>A c.2598+2617G>A (n.2598+2617G>A) c.857G>A (p.Arg286Gln) c.1178G>A (p.Arg393Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |