| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30068824A>G | CA127866 | ALDOA | c.*895A>G (n.*895A>G) c.*568A>G (n.*568A>G) c.548A>G (p.Asp183Gly) c.386A>G (p.Asp129Gly) c.353A>G (p.Asp118Gly) n.1580A>G c.221A>G (p.Asp74Gly) | ClinVar dbSNP gnomAD v4 |
| 16 | g.30068824A= | CA2216409534 | ALDOA | c.*895A= (n.*895A=) c.*568A= (n.*568A=) c.548A= (p.Asp183=) c.386A= (p.Asp129=) c.353A= (p.Asp118=) n.1580A= c.221A= (p.Asp74=) | dbSNP |