| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36233993A>T | CA253693 | CLTA,GNE | c.1002T>A (p.Cys334Ter) c.732T>A (p.Cys244Ter) c.909T>A (p.Cys303Ter) c.486-29205A>T (n.486-29205A>T) c.579T>A (p.Cys193Ter) c.894T>A (p.Cys298Ter) c.849T>A (p.Cys283Ter) c.756T>A (p.Cys252Ter) | ClinVar dbSNP |
| 9 | g.36233993A>G | CA464495980 | CLTA,GNE | c.1002T>C (p.Cys334=) c.732T>C (p.Cys244=) c.909T>C (p.Cys303=) c.486-29205A>G (n.486-29205A>G) c.579T>C (p.Cys193=) c.894T>C (p.Cys298=) c.849T>C (p.Cys283=) c.756T>C (p.Cys252=) | dbSNP gnomAD v4 |
| 9 | g.36233993A= | CA1846355477 | CLTA,GNE | c.1002T= (p.Cys334=) c.732T= (p.Cys244=) c.909T= (p.Cys303=) c.486-29205A= (n.486-29205A=) c.579T= (p.Cys193=) c.894T= (p.Cys298=) c.849T= (p.Cys283=) c.756T= (p.Cys252=) | dbSNP |