| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406515C>T | CA537990 | PEX10 | c.941G>A (p.Trp314Ter) c.881G>A (p.Trp294Ter) c.835G>A c.938G>A (p.Trp313Ter) c.506G>A (p.Trp169Ter) n.997G>A n.946G>A c.449G>A (p.Trp150Ter) n.996G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2406515C= | CA1140725536 | PEX10 | c.941G= (p.Trp314=) c.881G= (p.Trp294=) c.835G= c.938G= (p.Trp313=) c.506G= (p.Trp169=) n.997G= n.946G= c.449G= (p.Trp150=) n.996G= | dbSNP |