| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.786584C>G | CA355921433 | CPLX1 | c.322G>C (p.Glu108Gln) c.277G>C (p.Glu93Gln) c.259G>C (p.Glu87Gln) n.375G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.786584C>A | CA16609509 | CPLX1 | c.322G>T (p.Glu108Ter) c.277G>T (p.Glu93Ter) c.259G>T (p.Glu87Ter) n.375G>T | ClinVar dbSNP |