| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44006584G>A | CA115543 | NAGS,PYY | c.971G>A (p.Trp324Ter) c.878G>A (p.Trp293Ter) n.246G>A c.473G>A (p.Trp158Ter) c.-463+16988C>T (n.-463+16988C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44006584G= | CA2261182200 | NAGS,PYY | c.971G= (p.Trp324=) c.878G= (p.Trp293=) n.246G= c.473G= (p.Trp158=) c.-463+16988C= (n.-463+16988C=) | dbSNP |