| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.13005967T>A | CA144834 | ELAC2 | c.751A>T (p.Arg251Ter) c.694A>T (p.Arg232Ter) c.631A>T (p.Arg211Ter) c.80A>T n.580A>T n.1013A>T c.344A>T (p.Glu115Val) c.225A>T c.469A>T (p.Arg157Ter) n.548A>T | ClinVar dbSNP |
| 17 | g.13005967T= | CA2248396447 | ELAC2 | c.751A= (p.Arg251=) c.694A= (p.Arg232=) c.631A= (p.Arg211=) c.80A= n.580A= n.1013A= c.344A= (p.Glu115=) c.225A= c.469A= (p.Arg157=) n.548A= | dbSNP |