| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2166544C>A | CA278134 | TH | c.983G>T (p.Cys328Phe) c.*672G>T (n.*672G>T) c.701G>T (p.Cys234Phe) c.*703G>T (n.*703G>T) c.1064G>T (p.Cys355Phe) c.1076G>T (p.Cys359Phe) c.141G>T c.277G>T n.148G>T n.532G>T c.995G>T (p.Cys332Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2166544C>T | CA379126062 | TH | c.983G>A (p.Cys328Tyr) c.*672G>A (n.*672G>A) c.701G>A (p.Cys234Tyr) c.*703G>A (n.*703G>A) c.1064G>A (p.Cys355Tyr) c.1076G>A (p.Cys359Tyr) c.141G>A c.277G>A n.148G>A n.532G>A c.995G>A (p.Cys332Tyr) | dbSNP gnomAD v4 |
| 11 | g.2166544C= | CA1948005151 | TH | c.983G= (p.Cys328=) c.*672G= (n.*672G=) c.701G= (p.Cys234=) c.*703G= (n.*703G=) c.1064G= (p.Cys355=) c.1076G= (p.Cys359=) c.141G= c.277G= n.148G= n.532G= c.995G= (p.Cys332=) | dbSNP |