| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44883653C>T | CA16607685 | EFTUD2 | c.422G>A (p.Gly141Asp) c.317G>A (p.Gly106Asp) c.232G>A (n.232G>A) n.503G>A n.507G>A | ClinVar dbSNP |
| 17 | g.44883653C= | CA2261599553 | EFTUD2 | c.422G= (p.Gly141=) c.317G= (p.Gly106=) c.232G= (n.232G=) n.503G= n.507G= | dbSNP |