| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112233205G>A | CA114323 | PTS | c.286G>A (p.Asp96Asn) c.82G>A (p.Asp28Asn) c.*20G>A (n.*20G>A) n.460G>A n.327G>A c.*95G>A (n.*95G>A) n.237G>A c.247G>A (p.Asp83Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.112233205G= | CA2000619819 | PTS | c.286G= (p.Asp96=) c.82G= (p.Asp28=) c.*20G= (n.*20G=) n.460G= n.327G= c.*95G= (n.*95G=) n.237G= c.247G= (p.Asp83=) | dbSNP |