| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44879635T>C | CA261241 | EFTUD2 | c.623A>G (p.His208Arg) c.518A>G (p.His173Arg) c.433A>G (n.433A>G) n.81A>G c.593A>G (p.His198Arg) n.244A>G n.708A>G n.704A>G | ClinVar dbSNP |
| 17 | g.44879635T= | CA2261597808 | EFTUD2 | c.623A= (p.His208=) c.518A= (p.His173=) c.433A= (n.433A=) n.81A= c.593A= (p.His198=) n.244A= n.708A= n.704A= | dbSNP |