| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136826407C>T | CA4017545 | PEX7 | c.277C>T (p.Gln93Ter) c.152C>T c.163C>T (p.Gln55Ter) c.282C>T (n.282C>T) c.157C>T (p.Gln53Ter) | ClinVar dbSNP ExAC |
| 6 | g.136826407C= | CA3135028871 | PEX7 | c.277C= (p.Gln93=) c.152C= c.163C= (p.Gln55=) c.282C= (n.282C=) c.157C= (p.Gln53=) | dbSNP |
| 6 | g.136826407C>A | CA365855904 | PEX7 | c.277C>A (p.Gln93Lys) c.152C>A c.163C>A (p.Gln55Lys) c.282C>A (n.282C>A) c.157C>A (p.Gln53Lys) | dbSNP gnomAD v4 |