| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2167909G>A | CA16041465 | TH | c.601C>T (p.Gln201Ter) c.*290C>T (n.*290C>T) c.682C>T (p.Gln228Ter) c.694C>T (p.Gln232Ter) c.41C>T n.350C>T c.613C>T (p.Gln205Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167909G= | CA1948007241 | TH | c.601C= (p.Gln201=) c.*290C= (n.*290C=) c.682C= (p.Gln228=) c.694C= (p.Gln232=) c.41C= n.350C= c.613C= (p.Gln205=) | dbSNP |