| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.37809604A>G | CA121250 | CYBB | c.*1008A>G (n.*1008A>G) c.1403A>G (p.Asp468Gly) c.1499A>G (p.Asp500Gly) c.171+383604A>G (n.171+383604A>G) c.1193A>G (p.Asp398Gly) | ClinVar dbSNP |
| X | g.37809604A= | CA2424684844 | CYBB | c.*1008A= (n.*1008A=) c.1403A= (p.Asp468=) c.1499A= (p.Asp500=) c.171+383604A= (n.171+383604A=) c.1193A= (p.Asp398=) | dbSNP |