| 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 |
| 3 | g.33014229A= | CA10586860 | GLB1 | c.1561T= (p.Cys521=) c.1168T= (p.Cys390=) c.1471T= (p.Cys491=) n.660T= n.813T= c.1705T= (p.Cys569=) | dbSNP |
| 3 | g.33014229A>C | CA351986265 | GLB1 | c.1561T>G (p.Cys521Gly) c.1168T>G (p.Cys390Gly) c.1471T>G (p.Cys491Gly) n.660T>G n.813T>G c.1705T>G (p.Cys569Gly) | dbSNP gnomAD v4 |