| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.62634825G>C | CA10575642 | DOCK7 | c.653C>G (p.Ser218Ter) c.983C>G (p.Ser328Ter) c.921C>G c.659C>G (p.Ser220Ter) n.867C>G | ClinVar dbSNP |
| 1 | g.62634825G= | CA1171161552 | DOCK7 | c.653C= (p.Ser218=) c.983C= (p.Ser328=) c.921C= c.659C= (p.Ser220=) n.867C= | dbSNP |