| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.200661607A>G | CA2049717 | AOX1 | c.3404A>G (p.Asn1135Ser) c.62A>G (p.Asn21Ser) n.2336A>G n.2143A>G n.3561A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.200661607A>C | CA350269807 | AOX1 | c.3404A>C (p.Asn1135Thr) c.62A>C (p.Asn21Thr) n.2336A>C n.2143A>C n.3561A>C | dbSNP gnomAD v4 |
| 2 | g.200661607A= | CA1320725796 | AOX1 | c.3404A= (p.Asn1135=) c.62A= (p.Asn21=) n.2336A= n.2143A= n.3561A= | dbSNP |