| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8072841C>A | CA261164 | ALOX12B | c.2036G>T (p.Arg679Leu) c.1100G>T (p.Arg367Leu) n.459G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.8072841C>T | CA8367107 | ALOX12B | c.2036G>A (p.Arg679His) c.1100G>A (p.Arg367His) n.459G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8072841C= | CA2246121127 | ALOX12B | c.2036G= (p.Arg679=) c.1100G= (p.Arg367=) n.459G= | dbSNP |