| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36219927C>T | CA253681 | CLTA,GNE | c.1820G>A (p.Gly607Glu) c.1550G>A (p.Gly517Glu) c.1727G>A (p.Gly576Glu) c.1505G>A (p.Gly502Glu) c.485+15748C>T (n.485+15748C>T) c.1397G>A (p.Gly466Glu) c.1712G>A (p.Gly571Glu) c.1667G>A (p.Gly556Glu) c.1574G>A (p.Gly525Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36219927C= | CA1846328669 | CLTA,GNE | c.1820G= (p.Gly607=) c.1550G= (p.Gly517=) c.1727G= (p.Gly576=) c.1505G= (p.Gly502=) c.485+15748C= (n.485+15748C=) c.1397G= (p.Gly466=) c.1712G= (p.Gly571=) c.1667G= (p.Gly556=) c.1574G= (p.Gly525=) | dbSNP |