| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406526G>C | CA118504 | PEX10 | c.930C>G (p.His310Gln) c.870C>G (p.His290Gln) c.824C>G c.*236C>G (n.*236C>G) c.927C>G (p.His309Gln) c.495C>G (p.His165Gln) n.986C>G n.935C>G c.438C>G (p.His146Gln) n.985C>G | ClinVar dbSNP |
| 1 | g.2406526G= | CA1140725537 | PEX10 | c.930C= (p.His310=) c.870C= (p.His290=) c.824C= c.*236C= (n.*236C=) c.927C= (p.His309=) c.495C= (p.His165=) n.986C= n.935C= c.438C= (p.His146=) n.985C= | dbSNP |