| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2164327T>C | CA5818249 | TH | c.1400A>G (p.Asp467Gly) c.1118A>G (p.Asp373Gly) c.1481A>G (p.Asp494Gly) c.1493A>G (p.Asp498Gly) c.1412A>G (p.Asp471Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2164327T= | CA1948002535 | TH | c.1400A= (p.Asp467=) c.1118A= (p.Asp373=) c.1481A= (p.Asp494=) c.1493A= (p.Asp498=) c.1412A= (p.Asp471=) | dbSNP |