| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.18078599_18079914del | CA913203502 | PEX26 | c.223_271del | |
| 22 | g.18079908G>A | CA115369 | PEX26 | c.265G>A (p.Gly89Arg) | ClinVar dbSNP |
| 22 | g.18079908G>C | CA410265631 | PEX26 | c.265G>C (p.Gly89Arg) | |
| 22 | g.18079908G= | CA2395403454 | PEX26 | c.265G= (p.Gly89=) | |
| 22 | g.18079908G>T | CA410265632 | PEX26 | c.265G>T (p.Gly89Trp) | |
| 22 | g.18079909G>A | CA410265633 | PEX26 | c.266G>A (p.Gly89Glu) | gnomAD v4 |
| 22 | g.18079909G>C | CA410265634 | PEX26 | c.266G>C (p.Gly89Ala) | |
| 22 | g.18079909G>T | CA410265635 | PEX26 | c.266G>T (p.Gly89Val) | |
| 22 | g.18079910G>A | CA512915320 | PEX26 | c.267G>A (p.Gly89=) | |
| 22 | g.18079910G>C | CA512915321 | PEX26 | c.267G>C (p.Gly89=) | |
| 22 | g.18079910G= | CA2395403455 | PEX26 | c.267G= (p.Gly89=) | |
| 22 | g.18079910G>T | CA512915322 | PEX26 | c.267G>T (p.Gly89=) | ClinVar dbSNP |
| 22 | g.18079911A>C | CA410265636 | PEX26 | c.268A>C (p.Ile90Leu) | |
| 22 | g.18079911A>G | CA410265637 | PEX26 | c.268A>G (p.Ile90Val) | |
| 22 | g.18079911A>T | CA410265638 | PEX26 | c.268A>T (p.Ile90Phe) | |
| 22 | g.18079912T>A | CA410265639 | PEX26 | c.269T>A (p.Ile90Asn) | |
| 22 | g.18079912T>C | CA410265641 | PEX26 | c.269T>C (p.Ile90Thr) | |
| 22 | g.18079912T>G | CA410265640 | PEX26 | c.269T>G (p.Ile90Ser) | |
| 22 | g.18079913C>A | CA512915324 | PEX26 | c.270C>A (p.Ile90=) | COSMIC |
| 22 | g.18079913C>G | CA410265642 | PEX26 | c.270C>G (p.Ile90Met) | |
| 22 | g.18079913C>T | CA512915323 | PEX26 | c.270C>T (p.Ile90=) | |
| 22 | g.18079914C>A | CA410265643 | PEX26 | c.271C>A (p.Gln91Lys) | |
| 22 | g.18079914C>G | CA410265644 | PEX26 | c.271C>G (p.Gln91Glu) | |
| 22 | g.18079914C>T | CA410265645 | PEX26 | c.271C>T (p.Gln91Ter) | |
| 22 | g.18079915A>C | CA410265646 | PEX26 | c.272A>C (p.Gln91Pro) | |
| 22 | g.18079915A>G | CA410265647 | PEX26 | c.272A>G (p.Gln91Arg) | |
| 22 | g.18079915A>T | CA410265648 | PEX26 | c.272A>T (p.Gln91Leu) | |
| 22 | g.18079916G>A | CA512915325 | PEX26 | c.273G>A (p.Gln91=) | |
| 22 | g.18079916G>C | CA410265649 | PEX26 | c.273G>C (p.Gln91His) | |
| 22 | g.18079916G>T | CA410265650 | PEX26 | c.273G>T (p.Gln91His) | |
| 22 | g.18079917G>A | CA410265652 | PEX26 | c.274G>A (p.Ala92Thr) | ClinVar dbSNP |
| 22 | g.18079917G>C | CA410265653 | PEX26 | c.274G>C (p.Ala92Pro) | |
| 22 | g.18079917G= | CA2395403456 | PEX26 | c.274G= (p.Ala92=) | |
| 22 | g.18079917G>T | CA410265651 | PEX26 | c.274G>T (p.Ala92Ser) | |
| 22 | g.18079918C>A | CA410265654 | PEX26 | c.275C>A (p.Ala92Asp) | |
| 22 | g.18079918C= | CA2395403457 | PEX26 | c.275C= (p.Ala92=) | |
| 22 | g.18079918C>G | CA410265655 | PEX26 | c.275C>G (p.Ala92Gly) | |
| 22 | g.18079918C>T | CA410265656 | PEX26 | c.275C>T (p.Ala92Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.18079919C>A | CA512915326 | PEX26 | c.276C>A (p.Ala92=) | ClinVar |
| 22 | g.18079919C>G | CA512915328 | PEX26 | c.276C>G (p.Ala92=) | gnomAD v4 |
| 22 | g.18079919C>T | CA512915327 | PEX26 | c.276C>T (p.Ala92=) | |
| 22 | g.18079920C>A | CA410265657 | PEX26 | c.277C>A (p.Leu93Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.18079920C= | CA2395403458 | PEX26 | c.277C= (p.Leu93=) | |
| 22 | g.18079920C>G | CA410265658 | PEX26 | c.277C>G (p.Leu93Val) | |
| 22 | g.18079920C>T | CA512915329 | PEX26 | c.277C>T (p.Leu93=) | ClinVar dbSNP |
| 22 | g.18079921T>A | CA410265661 | PEX26 | c.278T>A (p.Leu93Gln) | |
| 22 | g.18079921T>C | CA410265660 | PEX26 | c.278T>C (p.Leu93Pro) | dbSNP |
| 22 | g.18079921T>G | CA410265659 | PEX26 | c.278T>G (p.Leu93Arg) | |
| 22 | g.18079921T= | CA2395403459 | PEX26 | c.278T= (p.Leu93=) | |
| 22 | g.18079922G>A | CA512915330 | PEX26 | c.279G>A (p.Leu93=) |