| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112233464A>G | CA114322 | PTS | c.347A>G (p.Asp116Gly) c.143A>G (p.Asp48Gly) c.*81A>G (n.*81A>G) n.488+231A>G n.388A>G c.*156A>G (n.*156A>G) c.*123+231A>G (n.*123+231A>G) c.308A>G (p.Asp103Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112233464A= | CA2000619938 | PTS | c.347A= (p.Asp116=) c.143A= (p.Asp48=) c.*81A= (n.*81A=) n.488+231A= n.388A= c.*156A= (n.*156A=) c.*123+231A= (n.*123+231A=) c.308A= (p.Asp103=) | dbSNP |