| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36227267A>G | CA16041316 | CLTA,GNE | c.1355T>C (p.Val452Ala) c.1085T>C (p.Val362Ala) c.1262T>C (p.Val421Ala) c.485+23088A>G (n.485+23088A>G) c.932T>C (p.Val311Ala) c.1247T>C (p.Val416Ala) c.1202T>C (p.Val401Ala) c.1109T>C (p.Val370Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36227267A= | CA1846341884 | CLTA,GNE | c.1355T= (p.Val452=) c.1085T= (p.Val362=) c.1262T= (p.Val421=) c.485+23088A= (n.485+23088A=) c.932T= (p.Val311=) c.1247T= (p.Val416=) c.1202T= (p.Val401=) c.1109T= (p.Val370=) | dbSNP |