| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2167896A>G | CA341191 | TH | c.614T>C (p.Leu205Pro) c.*303T>C (n.*303T>C) c.695T>C (p.Leu232Pro) c.707T>C (p.Leu236Pro) c.54T>C n.363T>C c.626T>C (p.Leu209Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167896A>T | CA379128067 | TH | c.614T>A (p.Leu205Gln) c.*303T>A (n.*303T>A) c.695T>A (p.Leu232Gln) c.707T>A (p.Leu236Gln) c.54T>A n.363T>A c.626T>A (p.Leu209Gln) | dbSNP |
| 11 | g.2167896A= | CA1948007231 | TH | c.614T= (p.Leu205=) c.*303T= (n.*303T=) c.695T= (p.Leu232=) c.707T= (p.Leu236=) c.54T= n.363T= c.626T= (p.Leu209=) | dbSNP |