Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.37803886C>T | CA10588777 | CYBB | c.*416C>T (n.*416C>T) c.811C>T (p.His271Tyr) c.907C>T (p.His303Tyr) c.171+377886C>T (n.171+377886C>T) n.332C>T c.601C>T (p.His201Tyr) | ClinVar dbSNP |
X | g.37803886C>A | CA121257 | CYBB | c.*416C>A (n.*416C>A) c.811C>A (p.His271Asn) c.907C>A (p.His303Asn) c.171+377886C>A (n.171+377886C>A) n.332C>A c.601C>A (p.His201Asn) | ClinVar dbSNP |