Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.37805020G>C | CA121232 | CYBB | c.*675G>C (n.*675G>C) c.1070G>C (p.Gly357Ala) c.1166G>C (p.Gly389Ala) c.171+379020G>C (n.171+379020G>C) c.860G>C (p.Gly287Ala) | ClinVar dbSNP |
X | g.37805020G>A | CA219677 | CYBB | c.*675G>A (n.*675G>A) c.1070G>A (p.Gly357Glu) c.1166G>A (p.Gly389Glu) c.171+379020G>A (n.171+379020G>A) c.860G>A (p.Gly287Glu) | ClinVar dbSNP |