| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.18078374_18078393delinsTGCAGCCCCCCTCAGGGGGCTCGGGG | CA2740094766 | PEX26 | c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG | ClinVar |
| 22 | g.18078378T>A | CA410263937 | PEX26 | c.2T>A (p.Met1Lys) | |
| 22 | g.18078378T>C | CA115372 | PEX26 | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.18078378T>G | CA410263942 | PEX26 | c.2T>G (p.Met1Arg) | dbSNP gnomAD v2 |
| 22 | g.18078378T= | CA2395402714 | PEX26 | c.2T= (p.Met1=) | |
| 22 | g.18078379G>A | CA410263946 | PEX26 | c.3G>A (p.Met1Ile) | |
| 22 | g.18078379G>C | CA410263950 | PEX26 | c.3G>C (p.Met1Ile) | |
| 22 | g.18078379G>T | CA410263953 | PEX26 | c.3G>T (p.Met1Ile) | gnomAD v4 |
| 22 | g.18078381_18078383del | CA2513240593 | PEX26 | c.5_7del (p.Lys2del) | |
| 22 | g.18078380A>C | CA410263957 | PEX26 | c.4A>C (p.Lys2Gln) | |
| 22 | g.18078380A>G | CA410263959 | PEX26 | c.4A>G (p.Lys2Glu) | |
| 22 | g.18078380A>T | CA410263961 | PEX26 | c.4A>T (p.Lys2Ter) | |
| 22 | g.18078381A>C | CA410263962 | PEX26 | c.5A>C (p.Lys2Thr) | |
| 22 | g.18078381A>G | CA410263963 | PEX26 | c.5A>G (p.Lys2Arg) | |
| 22 | g.18078381A>T | CA410263964 | PEX26 | c.5A>T (p.Lys2Met) | gnomAD v4 |
| 22 | g.18078382G>A | CA513184623 | PEX26 | c.6G>A (p.Lys2=) | gnomAD v4 |
| 22 | g.18078382G>C | CA410263966 | PEX26 | c.6G>C (p.Lys2Asn) | |
| 22 | g.18078382G>T | CA410263967 | PEX26 | c.6G>T (p.Lys2Asn) | gnomAD v4 |
| 22 | g.18078383A>C | CA410263972 | PEX26 | c.7A>C (p.Ser3Arg) | |
| 22 | g.18078383A>G | CA410263973 | PEX26 | c.7A>G (p.Ser3Gly) | gnomAD v4 |
| 22 | g.18078383A>T | CA410263977 | PEX26 | c.7A>T (p.Ser3Cys) | |
| 22 | g.18078384G>A | CA410263980 | PEX26 | c.8G>A (p.Ser3Asn) | |
| 22 | g.18078384G>C | CA410263983 | PEX26 | c.8G>C (p.Ser3Thr) | |
| 22 | g.18078384G>T | CA410263986 | PEX26 | c.8G>T (p.Ser3Ile) | gnomAD v4 |
| 22 | g.18078385C>A | CA410263989 | PEX26 | c.9C>A (p.Ser3Arg) | gnomAD v4 |
| 22 | g.18078385C= | CA2395402715 | PEX26 | c.9C= (p.Ser3=) | |
| 22 | g.18078385C>G | CA410263991 | PEX26 | c.9C>G (p.Ser3Arg) | gnomAD v4 |
| 22 | g.18078385C>T | CA321284197 | PEX26 | c.9C>T (p.Ser3=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.18078386G>A | CA410263995 | PEX26 | c.10G>A (p.Asp4Asn) | gnomAD v4 |
| 22 | g.18078386G>C | CA410263997 | PEX26 | c.10G>C (p.Asp4His) | gnomAD v4 |
| 22 | g.18078386G>T | CA410264000 | PEX26 | c.10G>T (p.Asp4Tyr) | gnomAD v4 |
| 22 | g.18078387A= | CA2395402716 | PEX26 | c.11A= (p.Asp4=) | |
| 22 | g.18078387A>C | CA410264003 | PEX26 | c.11A>C (p.Asp4Ala) | |
| 22 | g.18078387A>G | CA410264005 | PEX26 | c.11A>G (p.Asp4Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.18078387A>T | CA410264008 | PEX26 | c.11A>T (p.Asp4Val) | |
| 22 | g.18078388T>A | CA410264014 | PEX26 | c.12T>A (p.Asp4Glu) | |
| 22 | g.18078388T>C | CA513184630 | PEX26 | c.12T>C (p.Asp4=) | ClinVar dbSNP |
| 22 | g.18078388T>G | CA410264018 | PEX26 | c.12T>G (p.Asp4Glu) | |
| 22 | g.18078389T>A | CA410264022 | PEX26 | c.13T>A (p.Ser5Thr) | |
| 22 | g.18078389T>C | CA410264024 | PEX26 | c.13T>C (p.Ser5Pro) | dbSNP |
| 22 | g.18078389T>G | CA410264027 | PEX26 | c.13T>G (p.Ser5Ala) | |
| 22 | g.18078389T= | CA2395402717 | PEX26 | c.13T= (p.Ser5=) | |
| 22 | g.18078390C>A | CA410264031 | PEX26 | c.14C>A (p.Ser5Tyr) | gnomAD v4 |
| 22 | g.18078390C= | CA2395402718 | PEX26 | c.14C= (p.Ser5=) | |
| 22 | g.18078390C>G | CA410264035 | PEX26 | c.14C>G (p.Ser5Cys) | |
| 22 | g.18078390C>T | CA410264038 | PEX26 | c.14C>T (p.Ser5Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.18078391T>A | CA513184632 | PEX26 | c.15T>A (p.Ser5=) | |
| 22 | g.18078391T>C | CA513184633 | PEX26 | c.15T>C (p.Ser5=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.18078391T>G | CA513184634 | PEX26 | c.15T>G (p.Ser5=) | |
| 22 | g.18078392T>A | CA410264042 | PEX26 | c.16T>A (p.Ser6Thr) |