| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37815827T>C | CA359614040 | GDNF | c.460A>G (p.Thr154Ala) c.382A>G (p.Thr128Ala) c.433A>G (p.Thr145Ala) c.511A>G (p.Thr171Ala) c.304A>G (p.Thr102Ala) | dbSNP gnomAD v4 |
| 5 | g.37815827T>A | CA254549 | GDNF | c.460A>T (p.Thr154Ser) c.382A>T (p.Thr128Ser) c.433A>T (p.Thr145Ser) c.511A>T (p.Thr171Ser) c.304A>T (p.Thr102Ser) | ClinVar dbSNP |
| 5 | g.37815827T= | CA1539963227 | GDNF | c.460A= (p.Thr154=) c.382A= (p.Thr128=) c.433A= (p.Thr145=) c.511A= (p.Thr171=) c.304A= (p.Thr102=) | dbSNP |