| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36236954A>G | CA277854 | CLTA,GNE | c.740T>C (p.Val247Ala) c.470T>C (p.Val157Ala) c.647T>C (p.Val216Ala) c.486-26244A>G (n.486-26244A>G) c.440-2822T>C (n.440-2822T>C) c.632T>C (p.Val211Ala) c.710-2822T>C (n.710-2822T>C) c.617-2822T>C (n.617-2822T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36236954A= | CA1846360706 | CLTA,GNE | c.740T= (p.Val247=) c.470T= (p.Val157=) c.647T= (p.Val216=) c.486-26244A= (n.486-26244A=) c.440-2822T= (n.440-2822T=) c.632T= (p.Val211=) c.710-2822T= (n.710-2822T=) c.617-2822T= (n.617-2822T=) | dbSNP |