| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983616_76983631del | CA2687718867 | PEX2 | c.549_564del (p.Ile183MetfsTer4) | gnomAD v4 |
| 8 | g.76983628_76983629delinsAG | CA2573143377 | PEX2 | c.550_551delinsCT (p.Cys184Leu) | ClinVar dbSNP |
| 8 | g.76983628_76983629delinsCA | CA1795351303 | PEX2 | c.550_551delinsTG (p.Cys184=) | |
| 8 | g.76983628_76983629delinsTG | CA658797117 | PEX2 | c.550_551delinsCA (p.Cys184His) | ClinVar |
| 8 | g.76983628_76983630delinsCAT | CA1795351304 | PEX2 | c.549_551delinsATG (p.Ile183=) | |
| 8 | g.76983629del | CA179988266 | PEX2 | c.550del (p.Cys184ValfsTer8) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983629A= | CA658683512 | PEX2 | c.550T= (p.Cys184=) | |
| 8 | g.76983629A>C | CA371557099 | PEX2 | c.550T>G (p.Cys184Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>G | CA180286 | PEX2 | c.550T>C (p.Cys184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>T | CA371557100 | PEX2 | c.550T>A (p.Cys184Ser) | gnomAD v4 |
| 8 | g.76983629delinsGG | CA2695201484 | PEX2 | c.550delinsCC (p.Cys184ProfsTer2) | ClinVar |
| 8 | g.76983631_76983632del | CA4788689 | PEX2 | c.549_550del (p.Ile183MetfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983630T>A | CA461773396 | PEX2 | c.549A>T (p.Ile183=) | |
| 8 | g.76983630T>C | CA371557101 | PEX2 | c.549A>G (p.Ile183Met) | |
| 8 | g.76983630T>G | CA461773397 | PEX2 | c.549A>C (p.Ile183=) | |
| 8 | g.76983630_76983631insGT | CA1115556906 | PEX2 | c.549_550insCA (p.Cys184HisfsTer9) c.549_550insCA (p.Arg184HisfsTer9) | gnomAD v3 gnomAD v4 |
| 8 | g.76983631A= | CA1795351332 | PEX2 | c.548T= (p.Ile183=) | |
| 8 | g.76983631A>C | CA371557102 | PEX2 | c.548T>G (p.Ile183Arg) | |
| 8 | g.76983631A>G | CA4788690 | PEX2 | c.548T>C (p.Ile183Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983631A>T | CA371557103 | PEX2 | c.548T>A (p.Ile183Lys) | |
| 8 | g.76983632del | CA2555174319 | PEX2 | c.547del (p.Ile183TyrfsTer9) | |
| 8 | g.76983632T>A | CA371557104 | PEX2 | c.547A>T (p.Ile183Leu) | |
| 8 | g.76983632T>C | CA371557105 | PEX2 | c.547A>G (p.Ile183Val) | gnomAD v4 |
| 8 | g.76983632T>G | CA371557106 | PEX2 | c.547A>C (p.Ile183Leu) | |
| 8 | g.76983633G>A | CA461773400 | PEX2 | c.546C>T (p.Asn182=) | |
| 8 | g.76983633G>C | CA371557107 | PEX2 | c.546C>G (p.Asn182Lys) | |
| 8 | g.76983633G>T | CA371557108 | PEX2 | c.546C>A (p.Asn182Lys) | |
| 8 | g.76983634T>A | CA371557109 | PEX2 | c.545A>T (p.Asn182Ile) | |
| 8 | g.76983634T>C | CA371557110 | PEX2 | c.545A>G (p.Asn182Ser) | gnomAD v4 |
| 8 | g.76983634T>G | CA371557111 | PEX2 | c.545A>C (p.Asn182Thr) | |
| 8 | g.76983637dup | CA2967658822 | PEX2 | c.545dup (p.Asn182LysfsTer4) | |
| 8 | g.76983635T>A | CA371557112 | PEX2 | c.544A>T (p.Asn182Tyr) | |
| 8 | g.76983635T>C | CA371557113 | PEX2 | c.544A>G (p.Asn182Asp) | |
| 8 | g.76983635T>G | CA371557114 | PEX2 | c.544A>C (p.Asn182His) | |
| 8 | g.76983636T>A | CA371557115 | PEX2 | c.543A>T (p.Gln181His) | |
| 8 | g.76983636T>C | CA461773408 | PEX2 | c.543A>G (p.Gln181=) | |
| 8 | g.76983636T>G | CA371557116 | PEX2 | c.543A>C (p.Gln181His) | |
| 8 | g.76983637T>A | CA371557117 | PEX2 | c.542A>T (p.Gln181Leu) | |
| 8 | g.76983637T>C | CA371557118 | PEX2 | c.542A>G (p.Gln181Arg) | COSMIC |
| 8 | g.76983637T>G | CA371557119 | PEX2 | c.542A>C (p.Gln181Pro) | |
| 8 | g.76983638G>A | CA371557122 | PEX2 | c.541C>T (p.Gln181Ter) | gnomAD v4 |
| 8 | g.76983638G>C | CA371557121 | PEX2 | c.541C>G (p.Gln181Glu) | |
| 8 | g.76983638G>T | CA371557120 | PEX2 | c.541C>A (p.Gln181Lys) | |
| 8 | g.76983639A= | CA1795351336 | PEX2 | c.540T= (p.Pro180=) | |
| 8 | g.76983639A>C | CA461773412 | PEX2 | c.540T>G (p.Pro180=) | |
| 8 | g.76983639A>G | CA461773414 | PEX2 | c.540T>C (p.Pro180=) | dbSNP |
| 8 | g.76983639A>T | CA461773413 | PEX2 | c.540T>A (p.Pro180=) | |
| 8 | g.76983640G>A | CA371557125 | PEX2 | c.539C>T (p.Pro180Leu) c.539C>T | |
| 8 | g.76983640G>C | CA371557123 | PEX2 | c.539C>G (p.Pro180Arg) c.539C>G | |
| 8 | g.76983640G>T | CA371557124 | PEX2 | c.539C>A (p.Pro180His) c.539C>A |