| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33014229A>T | CA351986274 | GLB1 | c.1561T>A (p.Cys521Ser) c.1168T>A (p.Cys390Ser) c.1471T>A (p.Cys491Ser) n.660T>A n.813T>A c.1705T>A (p.Cys569Ser) | dbSNP |
| 3 | g.33014229A>G | CA180082 | GLB1 | c.1561T>C (p.Cys521Arg) c.1168T>C (p.Cys390Arg) c.1471T>C (p.Cys491Arg) n.660T>C n.813T>C c.1705T>C (p.Cys569Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |