| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88643474G>T | CA115452 | CYBA | c.383C>A (p.Pro128Gln) c.*684C>A (n.*684C>A) c.*721C>A (n.*721C>A) c.*390C>A (n.*390C>A) c.494C>A (p.Pro165Gln) c.597C>A (p.Pro199=) c.*1186C>A (n.*1186C>A) c.416C>A (p.Pro139Gln) c.467C>A (p.Pro156Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88643474G>A | CA397057110 | CYBA | c.383C>T (p.Pro128Leu) c.*684C>T (n.*684C>T) c.*721C>T (n.*721C>T) c.*390C>T (n.*390C>T) c.494C>T (p.Pro165Leu) c.597C>T (p.Pro199=) c.*1186C>T (n.*1186C>T) c.416C>T (p.Pro139Leu) c.467C>T (p.Pro156Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88643474G= | CA2241199678 | CYBA | c.383C= (p.Pro128=) c.*684C= (n.*684C=) c.*721C= (n.*721C=) c.*390C= (n.*390C=) c.494C= (p.Pro165=) c.597C= (p.Pro199=) c.*1186C= (n.*1186C=) c.416C= (p.Pro139=) c.467C= (p.Pro156=) | dbSNP |