| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.64788968C>A | CA3282024 | CWC27 | n.934C>A c.122C>A (p.Ser41Ter) c.617C>A (p.Ser206Ter) c.317C>A (p.Ser106Ter) n.777C>A n.818C>A c.518C>A (p.Ser173Ter) n.619C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.64788968C= | CA1551806613 | CWC27 | n.934C= c.122C= (p.Ser41=) c.617C= (p.Ser206=) c.317C= (p.Ser106=) n.777C= n.818C= c.518C= (p.Ser173=) n.619C= | dbSNP |
| 5 | g.64788968C>G | CA359847378 | CWC27 | n.934C>G c.122C>G (p.Ser41Ter) c.617C>G (p.Ser206Ter) c.317C>G (p.Ser106Ter) n.777C>G n.818C>G c.518C>G (p.Ser173Ter) n.619C>G | dbSNP gnomAD v4 |