| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.119583178C>T | CA120811 | UBE2A | c.598C>T (p.Gln200Ter) c.382C>T (p.Gln128Ter) c.373C>T (p.Gln125Ter) n.1403C>T c.292C>T (p.Gln98Ter) c.283C>T (p.Gln95Ter) n.361C>T c.157C>T (p.Gln53Ter) c.330+502C>T (n.330+502C>T) | ClinVar dbSNP |
| X | g.119583178C= | CA2454589985 | UBE2A | c.598C= (p.Gln200=) c.382C= (p.Gln128=) c.373C= (p.Gln125=) n.1403C= c.292C= (p.Gln98=) c.283C= (p.Gln95=) n.361C= c.157C= (p.Gln53=) c.330+502C= (n.330+502C=) | dbSNP |