| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.27762841T>A | CA498757321 | NOS2 | c.*3421A>T (n.*3421A>T) c.2605A>T (n.2605A>T) c.1719A>T (p.Thr573=) c.*1470A>T (n.*1470A>T) c.2757A>T (p.Thr919=) c.2754A>T (p.Thr918=) c.2640A>T (p.Thr880=) c.2685A>T (p.Thr895=) c.2091A>T (p.Thr697=) | dbSNP gnomAD v4 |
| 17 | g.27762841T>C | CA8454315 | NOS2 | c.*3421A>G (n.*3421A>G) c.2605A>G (n.2605A>G) c.1719A>G (p.Thr573=) c.*1470A>G (n.*1470A>G) c.2757A>G (p.Thr919=) c.2754A>G (p.Thr918=) c.2640A>G (p.Thr880=) c.2685A>G (p.Thr895=) c.2091A>G (p.Thr697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |