| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398557C>T | CA257369 | IMPDH1 | c.823G>A (p.Asp275Asn) n.806G>A c.931G>A (p.Asp311Asn) c.563G>A c.901G>A (p.Asp301Asn) c.832G>A (p.Asp278Asn) n.520G>A c.696G>A c.673G>A (p.Asp225Asn) c.661G>A (p.Asp221Asn) c.806G>A (n.806G>A) c.601G>A (p.Asp201Asn) c.724G>A (p.Asp242Asn) c.676G>A (p.Asp226Asn) c.700G>A (p.Asp234Asn) c.313G>A (p.Asp105Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.128398557C= | CA1742328359 | IMPDH1 | c.823G= (p.Asp275=) n.806G= c.931G= (p.Asp311=) c.563G= c.901G= (p.Asp301=) c.832G= (p.Asp278=) n.520G= c.696G= c.673G= (p.Asp225=) c.661G= (p.Asp221=) c.806G= (n.806G=) c.601G= (p.Asp201=) c.724G= (p.Asp242=) c.676G= (p.Asp226=) c.700G= (p.Asp234=) c.313G= (p.Asp105=) | dbSNP |