| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406561C>A | CA10604149 | PEX10 | c.895G>T (p.Glu299Ter) c.835G>T (p.Glu279Ter) c.789G>T c.*201G>T (n.*201G>T) c.892G>T (p.Glu298Ter) c.460G>T (p.Glu154Ter) n.951G>T n.900G>T c.403G>T (p.Glu135Ter) n.950G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.2406561C>T | CA537999 | PEX10 | c.895G>A (p.Glu299Lys) c.835G>A (p.Glu279Lys) c.789G>A c.*201G>A (n.*201G>A) c.892G>A (p.Glu298Lys) c.460G>A (p.Glu154Lys) n.951G>A n.900G>A c.403G>A (p.Glu135Lys) n.950G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406561C= | CA1140762424 | PEX10 | c.895G= (p.Glu299=) c.835G= (p.Glu279=) c.789G= c.*201G= (n.*201G=) c.892G= (p.Glu298=) c.460G= (p.Glu154=) n.951G= n.900G= c.403G= (p.Glu135=) n.950G= | dbSNP |