| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2166762G>A | CA278133 | TH | c.848C>T (p.Thr283Met) c.*537C>T (n.*537C>T) c.696-213C>T (n.696-213C>T) c.*568C>T (n.*568C>T) c.929C>T (p.Thr310Met) c.941C>T (p.Thr314Met) c.136-213C>T c.142C>T n.13C>T n.397C>T c.860C>T (p.Thr287Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2166762G>C | CA379126409 | TH | c.848C>G (p.Thr283Arg) c.*537C>G (n.*537C>G) c.696-213C>G (n.696-213C>G) c.*568C>G (n.*568C>G) c.929C>G (p.Thr310Arg) c.941C>G (p.Thr314Arg) c.136-213C>G c.142C>G n.13C>G n.397C>G c.860C>G (p.Thr287Arg) | ClinVar dbSNP |
| 11 | g.2166762G= | CA1948005525 | TH | c.848C= (p.Thr283=) c.*537C= (n.*537C=) c.696-213C= (n.696-213C=) c.*568C= (n.*568C=) c.929C= (p.Thr310=) c.941C= (p.Thr314=) c.136-213C= c.142C= n.13C= n.397C= c.860C= (p.Thr287=) | dbSNP |