| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.37783600G>A | CA121254 | CYBB | c.252G>A (p.Ala84=) c.156G>A (p.Ala52=) n.260G>A c.171+357600G>A (n.171+357600G>A) c.-179G>A (n.-179G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.37783600G>T | CA10383680 | CYBB | c.252G>T (p.Ala84=) c.156G>T (p.Ala52=) n.260G>T c.171+357600G>T (n.171+357600G>T) c.-179G>T (n.-179G>T) | dbSNP ExAC |