| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983472_76983478del | CA913141892 | PEX2 | c.702_708del (p.Asn235Ter) | |
| 8 | g.76983472_76983478delinsGTATTGT | CA1795351011 | PEX2 | c.701_707delinsACAATAC (p.Asp234=) | |
| 8 | g.76983473T>A | CA371556757 | PEX2 | c.706A>T (p.Thr236Ser) | |
| 8 | g.76983473T>C | CA371556758 | PEX2 | c.706A>G (p.Thr236Ala) | |
| 8 | g.76983473T>G | CA371556759 | PEX2 | c.706A>C (p.Thr236Pro) | |
| 8 | g.76983473_76983478del | CA658821643 | PEX2 | c.701_706del (p.Asp234_Thr236delinsAla) | ClinVar dbSNP |
| 8 | g.76983474A= | CA1795351017 | PEX2 | c.705T= (p.Asn235=) | |
| 8 | g.76983474A>C | CA371556760 | PEX2 | c.705T>G (p.Asn235Lys) | |
| 8 | g.76983474A>G | CA461773216 | PEX2 | c.705T>C (p.Asn235=) | gnomAD v4 |
| 8 | g.76983474A>T | CA4788665 | PEX2 | c.705T>A (p.Asn235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983475T>A | CA371556761 | PEX2 | c.704A>T (p.Asn235Ile) | gnomAD v4 |
| 8 | g.76983475T>C | CA179988257 | PEX2 | c.704A>G (p.Asn235Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983475T>G | CA371556762 | PEX2 | c.704A>C (p.Asn235Thr) | |
| 8 | g.76983475T= | CA1795351021 | PEX2 | c.704A= (p.Asn235=) | |
| 8 | g.76983476T>A | CA371556763 | PEX2 | c.703A>T (p.Asn235Tyr) | gnomAD v4 |
| 8 | g.76983476T>C | CA371556764 | PEX2 | c.703A>G (p.Asn235Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983476T>G | CA371556765 | PEX2 | c.703A>C (p.Asn235His) | gnomAD v4 |
| 8 | g.76983476T= | CA1795351025 | PEX2 | c.703A= (p.Asn235=) | |
| 8 | g.76983476_76983479del | CA2780922342 | PEX2 | c.700_703del (p.Asp234IlefsTer3) | |
| 8 | g.76983477G>A | CA461773218 | PEX2 | c.702C>T (p.Asp234=) | gnomAD v4 |
| 8 | g.76983477G>C | CA371556766 | PEX2 | c.702C>G (p.Asp234Glu) | |
| 8 | g.76983477G>T | CA371556767 | PEX2 | c.702C>A (p.Asp234Glu) | |
| 8 | g.76983478T>A | CA371556768 | PEX2 | c.701A>T (p.Asp234Val) | |
| 8 | g.76983478T>C | CA371556769 | PEX2 | c.701A>G (p.Asp234Gly) | |
| 8 | g.76983478T>G | CA371556770 | PEX2 | c.701A>C (p.Asp234Ala) | |
| 8 | g.76983478dup | CA2967658809 | PEX2 | c.701dup (p.Asp234GlufsTer27) | |
| 8 | g.76983479C>A | CA371556771 | PEX2 | c.700G>T (p.Asp234Tyr) | |
| 8 | g.76983479C>G | CA371556772 | PEX2 | c.700G>C (p.Asp234His) | |
| 8 | g.76983479C>T | CA371556773 | PEX2 | c.700G>A (p.Asp234Asn) | |
| 8 | g.76983480A>C | CA371556775 | PEX2 | c.699T>G (p.Ser233Arg) | |
| 8 | g.76983480A>G | CA461773220 | PEX2 | c.699T>C (p.Ser233=) | |
| 8 | g.76983480A>T | CA371556774 | PEX2 | c.699T>A (p.Ser233Arg) | |
| 8 | g.76983481C>A | CA371556776 | PEX2 | c.698G>T (p.Ser233Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983481C= | CA1795351032 | PEX2 | c.698G= (p.Ser233=) | |
| 8 | g.76983481C>G | CA371556777 | PEX2 | c.698G>C (p.Ser233Thr) | |
| 8 | g.76983481C>T | CA4788666 | PEX2 | c.698G>A (p.Ser233Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983482T>A | CA371556778 | PEX2 | c.697A>T (p.Ser233Cys) | |
| 8 | g.76983482T>C | CA371556779 | PEX2 | c.697A>G (p.Ser233Gly) | |
| 8 | g.76983482T>G | CA371556780 | PEX2 | c.697A>C (p.Ser233Arg) | |
| 8 | g.76983483A>C | CA371556782 | PEX2 | c.696T>G (p.Asn232Lys) | |
| 8 | g.76983483A>G | CA461773224 | PEX2 | c.696T>C (p.Asn232=) | gnomAD v4 |
| 8 | g.76983483A>T | CA371556781 | PEX2 | c.696T>A (p.Asn232Lys) | |
| 8 | g.76983484T>A | CA371556783 | PEX2 | c.695A>T (p.Asn232Ile) | |
| 8 | g.76983484T>C | CA371556784 | PEX2 | c.695A>G (p.Asn232Ser) | dbSNP |
| 8 | g.76983484T>G | CA371556785 | PEX2 | c.695A>C (p.Asn232Thr) | |
| 8 | g.76983484T= | CA1795351037 | PEX2 | c.695A= (p.Asn232=) | |
| 8 | g.76983485del | CA2967658810 | PEX2 | c.695del (p.Asn232IlefsTer6) | |
| 8 | g.76983485T>A | CA371556786 | PEX2 | c.694A>T (p.Asn232Tyr) | |
| 8 | g.76983485T>C | CA371556787 | PEX2 | c.694A>G (p.Asn232Asp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983485T>G | CA371556788 | PEX2 | c.694A>C (p.Asn232His) | dbSNP gnomAD v4 |