| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37815839C>T | CA254547 | GDNF | c.448G>A (p.Asp150Asn) c.370G>A (p.Asp124Asn) c.421G>A (p.Asp141Asn) c.499G>A (p.Asp167Asn) c.292G>A (p.Asp98Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815839C= | CA1539963244 | GDNF | c.448G= (p.Asp150=) c.370G= (p.Asp124=) c.421G= (p.Asp141=) c.499G= (p.Asp167=) c.292G= (p.Asp98=) | dbSNP |