| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983373T>A | CA371556531 | PEX2 | c.806A>T (p.Lys269Met) | |
| 8 | g.76983373T>C | CA371556532 | PEX2 | c.806A>G (p.Lys269Arg) | |
| 8 | g.76983373T>G | CA371556533 | PEX2 | c.806A>C (p.Lys269Thr) | |
| 8 | g.76983374T>A | CA371556534 | PEX2 | c.805A>T (p.Lys269Ter) | |
| 8 | g.76983374T>C | CA371556535 | PEX2 | c.805A>G (p.Lys269Glu) | |
| 8 | g.76983374T>G | CA4788651 | PEX2 | c.805A>C (p.Lys269Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983374T= | CA1795350868 | PEX2 | c.805A= (p.Lys269=) | |
| 8 | g.76983375A>C | CA461773153 | PEX2 | c.804T>G (p.Ala268=) | |
| 8 | g.76983375A>G | CA461773154 | PEX2 | c.804T>C (p.Ala268=) | COSMIC |
| 8 | g.76983375A>T | CA461773155 | PEX2 | c.804T>A (p.Ala268=) | |
| 8 | g.76983376G>A | CA371556536 | PEX2 | c.803C>T (p.Ala268Val) | |
| 8 | g.76983376G>C | CA371556538 | PEX2 | c.803C>G (p.Ala268Gly) | |
| 8 | g.76983376G>T | CA371556537 | PEX2 | c.803C>A (p.Ala268Asp) | |
| 8 | g.76983377C>A | CA371556539 | PEX2 | c.802G>T (p.Ala268Ser) | |
| 8 | g.76983377C= | CA1795350870 | PEX2 | c.802G= (p.Ala268=) | |
| 8 | g.76983377C>G | CA371556540 | PEX2 | c.802G>C (p.Ala268Pro) | dbSNP |
| 8 | g.76983377C>T | CA371556541 | PEX2 | c.802G>A (p.Ala268Thr) | |
| 8 | g.76983378A>C | CA371556542 | PEX2 | c.801T>G (p.Cys267Trp) | |
| 8 | g.76983378A>G | CA461773156 | PEX2 | c.801T>C (p.Cys267=) | |
| 8 | g.76983378A>T | CA371556543 | PEX2 | c.801T>A (p.Cys267Ter) | |
| 8 | g.76983379C>A | CA371556544 | PEX2 | c.800G>T (p.Cys267Phe) | |
| 8 | g.76983379C>G | CA371556545 | PEX2 | c.800G>C (p.Cys267Ser) | |
| 8 | g.76983379C>T | CA371556546 | PEX2 | c.800G>A (p.Cys267Tyr) | |
| 8 | g.76983380A= | CA1795350872 | PEX2 | c.799T= (p.Cys267=) | |
| 8 | g.76983380A>C | CA371556547 | PEX2 | c.799T>G (p.Cys267Gly) | dbSNP |
| 8 | g.76983380A>G | CA371556548 | PEX2 | c.799T>C (p.Cys267Arg) | |
| 8 | g.76983380A>T | CA371556549 | PEX2 | c.799T>A (p.Cys267Ser) | |
| 8 | g.76983381G>A | CA4788652 | PEX2 | c.798C>T (p.Phe266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983381G>C | CA371556551 | PEX2 | c.798C>G (p.Phe266Leu) | gnomAD v4 |
| 8 | g.76983381G= | CA1795350874 | PEX2 | c.798C= (p.Phe266=) | |
| 8 | g.76983381G>T | CA371556550 | PEX2 | c.798C>A (p.Phe266Leu) | |
| 8 | g.76983382A>C | CA371556552 | PEX2 | c.797T>G (p.Phe266Cys) | |
| 8 | g.76983382A>G | CA371556553 | PEX2 | c.797T>C (p.Phe266Ser) | |
| 8 | g.76983382A>T | CA371556554 | PEX2 | c.797T>A (p.Phe266Tyr) | |
| 8 | g.76983383_76983387del | CA2573143375 | PEX2 | c.793_797del (p.Tyr265LeufsTer3) | ClinVar dbSNP |
| 8 | g.76983383A>C | CA371556555 | PEX2 | c.796T>G (p.Phe266Val) | |
| 8 | g.76983383A>G | CA371556556 | PEX2 | c.796T>C (p.Phe266Leu) | |
| 8 | g.76983383A>T | CA371556557 | PEX2 | c.796T>A (p.Phe266Ile) | |
| 8 | g.76983383_76983388delinsAATAAC | CA1795350876 | PEX2 | c.791_796delinsGTTATT (p.Cys264=) | |
| 8 | g.76983384A= | CA1795350880 | PEX2 | c.795T= (p.Tyr265=) | |
| 8 | g.76983384A>C | CA371556558 | PEX2 | c.795T>G (p.Tyr265Ter) | |
| 8 | g.76983384A>G | CA4788653 | PEX2 | c.795T>C (p.Tyr265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983384A>T | CA371556559 | PEX2 | c.795T>A (p.Tyr265Ter) | gnomAD v4 |
| 8 | g.76983385_76983389del | CA855436104 | PEX2 | c.791_795del (p.Cys264PhefsTer4) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983385T>A | CA371556560 | PEX2 | c.794A>T (p.Tyr265Phe) | gnomAD v4 |
| 8 | g.76983385T>C | CA371556561 | PEX2 | c.794A>G (p.Tyr265Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983385T>G | CA371556562 | PEX2 | c.794A>C (p.Tyr265Ser) | |
| 8 | g.76983386A>C | CA371556565 | PEX2 | c.793T>G (p.Tyr265Asp) | |
| 8 | g.76983386A>G | CA371556564 | PEX2 | c.793T>C (p.Tyr265His) | |
| 8 | g.76983386A>T | CA371556563 | PEX2 | c.793T>A (p.Tyr265Asn) |