| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136869950C>T | CA254243 | PEX7 | c.694C>T (p.Arg232Ter) c.382C>T c.580C>T (p.Arg194Ter) c.699C>T (n.699C>T) c.574C>T (p.Arg192Ter) c.400C>T (p.Arg134Ter) c.526+23769C>T (n.526+23769C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136869950C= | CA3134742743 | PEX7 | c.694C= (p.Arg232=) c.382C= c.580C= (p.Arg194=) c.699C= (n.699C=) c.574C= (p.Arg192=) c.400C= (p.Arg134=) c.526+23769C= (n.526+23769C=) | dbSNP |