| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33014292T>C | CA114660 | GLB1 | c.1498A>G (p.Thr500Ala) c.1105A>G (p.Thr369Ala) c.1408A>G (p.Thr470Ala) n.597A>G n.750A>G c.1642A>G (p.Thr548Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.33014292T= | CA1355984376 | GLB1 | c.1498A= (p.Thr500=) c.1105A= (p.Thr369=) c.1408A= (p.Thr470=) n.597A= n.750A= c.1642A= (p.Thr548=) | dbSNP |
| 3 | g.33014292T>A | CA351986836 | GLB1 | c.1498A>T (p.Thr500Ser) c.1105A>T (p.Thr369Ser) c.1408A>T (p.Thr470Ser) n.597A>T n.750A>T c.1642A>T (p.Thr548Ser) | ClinVar dbSNP |