| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150860619A>C | CA4566334 | AOC1 | c.1975A>C (p.Asn659His) c.2032A>C (p.Asn678His) n.652A>C c.1969A>C (p.Asn657His) c.552A>C (p.Arg184Ser) n.295+16390T>G n.425+7997T>G n.297+16390T>G n.301+16390T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150860619A= | CA1752387693 | AOC1 | c.1975A= (p.Asn659=) c.2032A= (p.Asn678=) n.652A= c.1969A= (p.Asn657=) c.552A= (p.Arg184=) n.295+16390T= n.425+7997T= n.297+16390T= n.301+16390T= | dbSNP |