| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.35576029G>A | CA399137274 | PEX12 | c.833C>T (p.Ala278Val) | |
| 17 | g.35576029G>C | CA399137276 | PEX12 | c.833C>G (p.Ala278Gly) | |
| 17 | g.35576029G>T | CA399137275 | PEX12 | c.833C>A (p.Ala278Asp) | |
| 17 | g.35576030C>A | CA399137277 | PEX12 | c.832G>T (p.Ala278Ser) | |
| 17 | g.35576030C= | CA2257586629 | PEX12 | c.832G= (p.Ala278=) | |
| 17 | g.35576030C>G | CA399137278 | PEX12 | c.832G>C (p.Ala278Pro) | |
| 17 | g.35576030C>T | CA399137279 | PEX12 | c.832G>A (p.Ala278Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.35576032_35576035del | CA2739267444 | PEX12 | c.829_832del (p.Thr277ProfsTer11) | |
| 17 | g.35576031A>C | CA499903613 | PEX12 | c.831T>G (p.Thr277=) | |
| 17 | g.35576031A>G | CA499903614 | PEX12 | c.831T>C (p.Thr277=) | |
| 17 | g.35576031A>T | CA499903611 | PEX12 | c.831T>A (p.Thr277=) | |
| 17 | g.35576032G>A | CA399137280 | PEX12 | c.830C>T (p.Thr277Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576032G>C | CA399137281 | PEX12 | c.830C>G (p.Thr277Ser) | gnomAD v4 |
| 17 | g.35576032G= | CA2257586631 | PEX12 | c.830C= (p.Thr277=) | |
| 17 | g.35576032G>T | CA399137282 | PEX12 | c.830C>A (p.Thr277Asn) | |
| 17 | g.35576033T>A | CA399137283 | PEX12 | c.829A>T (p.Thr277Ser) | |
| 17 | g.35576033T>C | CA290068270 | PEX12 | c.829A>G (p.Thr277Ala) | dbSNP |
| 17 | g.35576033T>G | CA399137284 | PEX12 | c.829A>C (p.Thr277Pro) | |
| 17 | g.35576033T= | CA2257586634 | PEX12 | c.829A= (p.Thr277=) | |
| 17 | g.35576034C>A | CA399137285 | PEX12 | c.828G>T (p.Leu276Phe) | |
| 17 | g.35576034C>G | CA399137286 | PEX12 | c.828G>C (p.Leu276Phe) | |
| 17 | g.35576034C>T | CA499903616 | PEX12 | c.828G>A (p.Leu276=) | |
| 17 | g.35576035A= | CA2257586635 | PEX12 | c.827T= (p.Leu276=) | |
| 17 | g.35576035A>C | CA399137287 | PEX12 | c.827T>G (p.Leu276Trp) | |
| 17 | g.35576035A>G | CA399137289 | PEX12 | c.827T>C (p.Leu276Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576035A>T | CA399137288 | PEX12 | c.827T>A (p.Leu276Ter) | |
| 17 | g.35576036A= | CA2257586639 | PEX12 | c.826T= (p.Leu276=) | |
| 17 | g.35576036A>C | CA399137290 | PEX12 | c.826T>G (p.Leu276Val) | |
| 17 | g.35576036A>G | CA499903617 | PEX12 | c.826T>C (p.Leu276=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576036A>T | CA399137291 | PEX12 | c.826T>A (p.Leu276Met) | |
| 17 | g.35576037T>A | CA499903620 | PEX12 | c.825A>T (p.Ser275=) | |
| 17 | g.35576037T>C | CA499903622 | PEX12 | c.825A>G (p.Ser275=) | dbSNP gnomAD v4 |
| 17 | g.35576037T>G | CA499903623 | PEX12 | c.825A>C (p.Ser275=) | dbSNP |
| 17 | g.35576037T= | CA2257586641 | PEX12 | c.825A= (p.Ser275=) | |
| 17 | g.35576038G>A | CA399137292 | PEX12 | c.824C>T (p.Ser275Leu) | gnomAD v4 |
| 17 | g.35576038G>C | CA399137293 | PEX12 | c.824C>G (p.Ser275Ter) | |
| 17 | g.35576038G>T | CA399137294 | PEX12 | c.824C>A (p.Ser275Ter) | gnomAD v4 COSMIC |
| 17 | g.35576039A>C | CA399137295 | PEX12 | c.823T>G (p.Ser275Ala) | |
| 17 | g.35576039A>G | CA399137296 | PEX12 | c.823T>C (p.Ser275Pro) | |
| 17 | g.35576039A>T | CA399137297 | PEX12 | c.823T>A (p.Ser275Thr) | |
| 17 | g.35576040C>A | CA399137298 | PEX12 | c.822G>T (p.Lys274Asn) | COSMIC |
| 17 | g.35576040C>G | CA399137299 | PEX12 | c.822G>C (p.Lys274Asn) | ClinVar |
| 17 | g.35576040C>T | CA499903625 | PEX12 | c.822G>A (p.Lys274=) | gnomAD v4 |
| 17 | g.35576041T>A | CA399137300 | PEX12 | c.821A>T (p.Lys274Met) | |
| 17 | g.35576041T>C | CA399137301 | PEX12 | c.821A>G (p.Lys274Arg) | |
| 17 | g.35576041T>G | CA399137302 | PEX12 | c.821A>C (p.Lys274Thr) | gnomAD v4 |
| 17 | g.35576042T>A | CA399137303 | PEX12 | c.820A>T (p.Lys274Ter) | |
| 17 | g.35576042T>C | CA399137305 | PEX12 | c.820A>G (p.Lys274Glu) | |
| 17 | g.35576042T>G | CA399137304 | PEX12 | c.820A>C (p.Lys274Gln) | |
| 17 | g.35576043G>A | CA499903629 | PEX12 | c.819C>T (p.Ile273=) | dbSNP |