| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36217541C>T | CA192839393 | CLTA,GNE | c.2086G>A (p.Val696Met) c.1816G>A (p.Val606Met) c.1993G>A (p.Val665Met) c.1771G>A (p.Val591Met) c.485+13362C>T (n.485+13362C>T) c.1663G>A (p.Val555Met) c.1978G>A (p.Val660Met) c.1933G>A (p.Val645Met) c.1840G>A (p.Val614Met) | dbSNP |
| 9 | g.36217541C= | CA1846324214 | CLTA,GNE | c.2086G= (p.Val696=) c.1816G= (p.Val606=) c.1993G= (p.Val665=) c.1771G= (p.Val591=) c.485+13362C= (n.485+13362C=) c.1663G= (p.Val555=) c.1978G= (p.Val660=) c.1933G= (p.Val645=) c.1840G= (p.Val614=) | dbSNP |