| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88646761T>C | CA115454 | CYBA | c.281A>G (p.His94Arg) c.203+340A>G (n.203+340A>G) c.411A>G (p.Ala137=) c.230A>G (p.His77Arg) n.561A>G n.256A>G c.65A>G c.270A>G (p.Ala90=) n.303A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.88646761T>G | CA397064187 | CYBA | c.281A>C (p.His94Pro) c.203+340A>C (n.203+340A>C) c.411A>C (p.Ala137=) c.230A>C (p.His77Pro) n.561A>C n.256A>C c.65A>C c.270A>C (p.Ala90=) n.303A>C | ClinVar dbSNP |