| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1754982C>T | CA314356 | CTSD | c.751G>A (p.Asp251Asn) c.646G>A (p.Asp216Asn) c.176G>A n.367G>A c.730G>A (p.Asp244Asn) c.745G>A (p.Asp249Asn) n.349G>A n.3179G>A n.59G>A c.*612G>A (n.*612G>A) c.151G>A (p.Asp51Asn) c.706G>A (p.Asp236Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1754982C= | CA1947826317 | CTSD | c.751G= (p.Asp251=) c.646G= (p.Asp216=) c.176G= n.367G= c.730G= (p.Asp244=) c.745G= (p.Asp249=) n.349G= n.3179G= n.59G= c.*612G= (n.*612G=) c.151G= (p.Asp51=) c.706G= (p.Asp236=) | dbSNP |