| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2164339G>A | CA278130 | TH | c.1388C>T (p.Thr463Met) c.1106C>T (p.Thr369Met) c.1469C>T (p.Thr490Met) c.1481C>T (p.Thr494Met) c.1400C>T (p.Thr467Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2164339G= | CA1948002571 | TH | c.1388C= (p.Thr463=) c.1106C= (p.Thr369=) c.1469C= (p.Thr490=) c.1481C= (p.Thr494=) c.1400C= (p.Thr467=) | dbSNP |