| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88646773C>A | CA397064306 | CYBA | c.269G>T (p.Arg90Leu) c.203+328G>T (n.203+328G>T) c.399G>T (p.Ser133=) c.218G>T (p.Arg73Leu) n.549G>T n.244G>T c.53G>T c.258G>T (p.Ser86=) n.291G>T | dbSNP |
| 16 | g.88646773C>T | CA115448 | CYBA | c.269G>A (p.Arg90Gln) c.203+328G>A (n.203+328G>A) c.399G>A (p.Ser133=) c.218G>A (p.Arg73Gln) n.549G>A n.244G>A c.53G>A c.258G>A (p.Ser86=) n.291G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.88646773C>G | CA397064308 | CYBA | c.269G>C (p.Arg90Pro) c.203+328G>C (n.203+328G>C) c.399G>C (p.Ser133=) c.218G>C (p.Arg73Pro) n.549G>C n.244G>C c.53G>C c.258G>C (p.Ser86=) n.291G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.88646773C= | CA2241201640 | CYBA | c.269G= (p.Arg90=) c.203+328G= (n.203+328G=) c.399G= (p.Ser133=) c.218G= (p.Arg73=) n.549G= n.244G= c.53G= c.258G= (p.Ser86=) n.291G= | dbSNP |