| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37816010G>A | CA119895 | GDNF | c.277C>T (p.Arg93Trp) c.199C>T (p.Arg67Trp) c.250C>T (p.Arg84Trp) c.328C>T (p.Arg110Trp) c.121C>T (p.Arg41Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37816010G= | CA1539963698 | GDNF | c.277C= (p.Arg93=) c.199C= (p.Arg67=) c.250C= (p.Arg84=) c.328C= (p.Arg110=) c.121C= (p.Arg41=) | dbSNP |