| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36217529C>T | CA5056373 | CLTA,GNE | c.2098G>A (p.Gly700Arg) c.1828G>A (p.Gly610Arg) c.2005G>A (p.Gly669Arg) c.1783G>A (p.Gly595Arg) c.485+13350C>T (n.485+13350C>T) c.1675G>A (p.Gly559Arg) c.1990G>A (p.Gly664Arg) c.1945G>A (p.Gly649Arg) c.1852G>A (p.Gly618Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36217529C= | CA1846324155 | CLTA,GNE | c.2098G= (p.Gly700=) c.1828G= (p.Gly610=) c.2005G= (p.Gly669=) c.1783G= (p.Gly595=) c.485+13350C= (n.485+13350C=) c.1675G= (p.Gly559=) c.1990G= (p.Gly664=) c.1945G= (p.Gly649=) c.1852G= (p.Gly618=) | dbSNP |