| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37815654G>C | CA254550 | GDNF | c.633C>G (p.Ile211Met) c.555C>G (p.Ile185Met) c.606C>G (p.Ile202Met) c.684C>G (p.Ile228Met) c.477C>G (p.Ile159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815654G= | CA1539962732 | GDNF | c.633C= (p.Ile211=) c.555C= (p.Ile185=) c.606C= (p.Ile202=) c.684C= (p.Ile228=) c.477C= (p.Ile159=) | dbSNP |
| 5 | g.37815654G>T | CA444019343 | GDNF | c.633C>A (p.Ile211=) c.555C>A (p.Ile185=) c.606C>A (p.Ile202=) c.684C>A (p.Ile228=) c.477C>A (p.Ile159=) | dbSNP gnomAD v4 |