Table 1:
Variants known to cause Zellweger spectrum disorder found in OMIM or dbPEX databases.
| rsID | Gene | Chromosome | RefSeq Accession Number | cDNA | Protein |
|---|---|---|---|---|---|
| rs61750420 | PEX1 | 7 | NM_001282677 | c.G2357A | p.G786D |
| NM_000466 | c.G2528A | p.G843D | |||
| NM_001282678 | c.G1904A | p.G635D | |||
| rs61750427 | PEX1 | 7 | NM_001282677 | c.T2795C | p.I932T |
| NM_000466 | c.T2966C | p.I989T | |||
| NM_001282678 | c.T2342C | p.I781T | |||
| rs61750425 | PEX1 | 7 | NM_001282677 | c.G2675A | p.R892Q |
| NM_000466 | c.G2846A | p.R949Q | |||
| NM_001282678 | c.G2222A | p.R741Q | |||
| rs61753231 | PEX6 | 6 | NM_000287 | c.G2579A | p.R860Q |
| rs61753226 | PEX6 | 6 | NM_000287 | c.T2534C | p.I845T |
| rs61753229 | PEX6 | 6 | NM_000287 | c.G2435A | p.R812Q |
| - | PEX10 | 1 | NM_002617 | c.G932A | p.R311Q |
| NM_153818 | c.G992A | p.R331Q | |||
| rs62641228 | PEX26 | 22 | NM_001127649 | c.C292T | p.R98W |
| NM_001199319 | c.C292T | p.R98W | |||
| NM_017929 | c.C292T | p.R98W | |||
| rs61752134 | PEX26 | 22 | NM_001127649 | c.C350T | p.P117L |
| NM_001199319 | c.C350T | p.P117L | |||
| NM_017929 | c.C350T | p.P117L | |||