| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.33051988T>C | CA203575 | GLB1 | c.809A>G (p.Tyr270Cys) c.416A>G (p.Tyr139Cys) c.719A>G (p.Tyr240Cys) c.332A>G (p.Tyr111Cys) c.*301A>G (n.*301A>G) c.*252A>G (n.*252A>G) n.184A>G n.212A>G n.335A>G c.953A>G (p.Tyr318Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.33051988T>G | CA247531 | GLB1 | c.809A>C (p.Tyr270Ser) c.416A>C (p.Tyr139Ser) c.719A>C (p.Tyr240Ser) c.332A>C (p.Tyr111Ser) c.*301A>C (n.*301A>C) c.*252A>C (n.*252A>C) n.184A>C n.212A>C n.335A>C c.953A>C (p.Tyr318Ser) | ClinVar dbSNP |