UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983447_76983457del | CA2687718859 | PEX2 | c.724_734del (p.Lys242SerfsTer15) | gnomAD v4 |
| 8 | g.76983448C>A | CA371556702 | PEX2 | c.731G>T (p.Cys244Phe) | |
| 8 | g.76983448C>G | CA371556700 | PEX2 | c.731G>C (p.Cys244Ser) | |
| 8 | g.76983448C>T | CA371556701 | PEX2 | c.731G>A (p.Cys244Tyr) | |
| 8 | g.76983449A>C | CA371556703 | PEX2 | c.730T>G (p.Cys244Gly) | |
| 8 | g.76983449A>G | CA371556704 | PEX2 | c.730T>C (p.Cys244Arg) | |
| 8 | g.76983449A>T | CA371556705 | PEX2 | c.730T>A (p.Cys244Ser) | |
| 8 | g.76983450T>A | CA371556706 | PEX2 | c.729A>T (p.Glu243Asp) | |
| 8 | g.76983450T>C | CA179988255 | PEX2 | c.729A>G (p.Glu243=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983450T>G | CA371556707 | PEX2 | c.729A>C (p.Glu243Asp) | |
| 8 | g.76983450T= | CA1795350974 | PEX2 | c.729A= (p.Glu243=) | |
| 8 | g.76983451T>A | CA371556708 | PEX2 | c.728A>T (p.Glu243Val) | |
| 8 | g.76983451T>C | CA371556709 | PEX2 | c.728A>G (p.Glu243Gly) | |
| 8 | g.76983451T>G | CA371556710 | PEX2 | c.728A>C (p.Glu243Ala) | |
| 8 | g.76983452C>A | CA371556711 | PEX2 | c.727G>T (p.Glu243Ter) | |
| 8 | g.76983452C= | CA1795350976 | PEX2 | c.727G= (p.Glu243=) | |
| 8 | g.76983452C>G | CA371556712 | PEX2 | c.727G>C (p.Glu243Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983452C>T | CA371556713 | PEX2 | c.727G>A (p.Glu243Lys) | |
| 8 | g.76983453T>A | CA371556714 | PEX2 | c.726A>T (p.Lys242Asn) | |
| 8 | g.76983453T>C | CA461773193 | PEX2 | c.726A>G (p.Lys242=) | ClinVar dbSNP |
| 8 | g.76983453T>G | CA371556715 | PEX2 | c.726A>C (p.Lys242Asn) | |
| 8 | g.76983454T>A | CA371556716 | PEX2 | c.725A>T (p.Lys242Ile) | |
| 8 | g.76983454T>C | CA371556718 | PEX2 | c.725A>G (p.Lys242Arg) | |
| 8 | g.76983454T>G | CA371556717 | PEX2 | c.725A>C (p.Lys242Thr) | |
| 8 | g.76983455T>A | CA371556719 | PEX2 | c.724A>T (p.Lys242Ter) | |
| 8 | g.76983455T>C | CA371556720 | PEX2 | c.724A>G (p.Lys242Glu) | |
| 8 | g.76983455T>G | CA371556721 | PEX2 | c.724A>C (p.Lys242Gln) | |
| 8 | g.76983456G>A | CA461773194 | PEX2 | c.723C>T (p.Gly241=) | |
| 8 | g.76983456G>C | CA461773195 | PEX2 | c.723C>G (p.Gly241=) | |
| 8 | g.76983456G>T | CA461773196 | PEX2 | c.723C>A (p.Gly241=) | |
| 8 | g.76983457C>A | CA220656 | PEX2 | c.722G>T (p.Gly241Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983457C= | CA1795350979 | PEX2 | c.722G= (p.Gly241=) | |
| 8 | g.76983457C>G | CA371556722 | PEX2 | c.722G>C (p.Gly241Ala) | |
| 8 | g.76983457C>T | CA371556723 | PEX2 | c.722G>A (p.Gly241Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983458C>A | CA371556724 | PEX2 | c.721G>T (p.Gly241Cys) | |
| 8 | g.76983458C>G | CA371556725 | PEX2 | c.721G>C (p.Gly241Arg) | |
| 8 | g.76983458C>T | CA371556726 | PEX2 | c.721G>A (p.Gly241Ser) | dbSNP |
| 8 | g.76983459A= | CA1795350983 | PEX2 | c.720T= (p.Ser240=) | |
| 8 | g.76983459A>C | CA371556727 | PEX2 | c.720T>G (p.Ser240Arg) | |
| 8 | g.76983459A>G | CA179988256 | PEX2 | c.720T>C (p.Ser240=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983459A>T | CA371556728 | PEX2 | c.720T>A (p.Ser240Arg) | |
| 8 | g.76983460C>A | CA371556731 | PEX2 | c.719G>T (p.Ser240Ile) | |
| 8 | g.76983460C>G | CA371556730 | PEX2 | c.719G>C (p.Ser240Thr) | |
| 8 | g.76983460C>T | CA371556729 | PEX2 | c.719G>A (p.Ser240Asn) | gnomAD v4 |
| 8 | g.76983461T>A | CA371556732 | PEX2 | c.718A>T (p.Ser240Cys) | |
| 8 | g.76983461T>C | CA371556733 | PEX2 | c.718A>G (p.Ser240Gly) | |
| 8 | g.76983461T>G | CA371556734 | PEX2 | c.718A>C (p.Ser240Arg) | ClinVar |
| 8 | g.76983462G>A | CA461773197 | PEX2 | c.717C>T (p.Thr239=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983462G>C | CA461773199 | PEX2 | c.717C>G (p.Thr239=) | |
| 8 | g.76983462G>T | CA461773200 | PEX2 | c.717C>A (p.Thr239=) | |
| 8 | g.76983463G>A | CA371556735 | PEX2 | c.716C>T (p.Thr239Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983463G>C | CA371556736 | PEX2 | c.716C>G (p.Thr239Ser) | |
| 8 | g.76983463G= | CA1795350989 | PEX2 | c.716C= (p.Thr239=) | |
| 8 | g.76983463G>T | CA371556737 | PEX2 | c.716C>A (p.Thr239Asn) | |
| 8 | g.76983464T>A | CA371556738 | PEX2 | c.715A>T (p.Thr239Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983464T>C | CA371556739 | PEX2 | c.715A>G (p.Thr239Ala) | |
| 8 | g.76983464T>G | CA371556740 | PEX2 | c.715A>C (p.Thr239Pro) | |
| 8 | g.76983464T= | CA1795350995 | PEX2 | c.715A= (p.Thr239=) | |
| 8 | g.76983465G>A | CA461773201 | PEX2 | c.714C>T (p.Ala238=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983465G>C | CA461773202 | PEX2 | c.714C>G (p.Ala238=) | |
| 8 | g.76983465G= | CA1795350998 | PEX2 | c.714C= (p.Ala238=) | |
| 8 | g.76983465G>T | CA461773203 | PEX2 | c.714C>A (p.Ala238=) | |
| 8 | g.76983466G>A | CA371556741 | PEX2 | c.713C>T (p.Ala238Val) | |
| 8 | g.76983466G>C | CA371556742 | PEX2 | c.713C>G (p.Ala238Gly) | |
| 8 | g.76983466G>T | CA371556743 | PEX2 | c.713C>A (p.Ala238Asp) | gnomAD v4 |
| 8 | g.76983467C>A | CA371556746 | PEX2 | c.712G>T (p.Ala238Ser) | |
| 8 | g.76983467C>G | CA371556745 | PEX2 | c.712G>C (p.Ala238Pro) | |
| 8 | g.76983467C>T | CA371556744 | PEX2 | c.712G>A (p.Ala238Thr) | |
| 8 | g.76983468T>A | CA371556747 | PEX2 | c.711A>T (p.Leu237Phe) | |
| 8 | g.76983468T>C | CA461773208 | PEX2 | c.711A>G (p.Leu237=) | |
| 8 | g.76983468T>G | CA371556748 | PEX2 | c.711A>C (p.Leu237Phe) | |
| 8 | g.76983469A>C | CA371556749 | PEX2 | c.710T>G (p.Leu237Ter) | |
| 8 | g.76983469A>G | CA371556750 | PEX2 | c.710T>C (p.Leu237Ser) | |
| 8 | g.76983469A>T | CA371556751 | PEX2 | c.710T>A (p.Leu237Ter) | |
| 8 | g.76983470A= | CA1795351001 | PEX2 | c.709T= (p.Leu237=) | |
| 8 | g.76983470A>C | CA371556752 | PEX2 | c.709T>G (p.Leu237Val) | |
| 8 | g.76983470A>G | CA461773209 | PEX2 | c.709T>C (p.Leu237=) | |
| 8 | g.76983470A>T | CA371556753 | PEX2 | c.709T>A (p.Leu237Ile) | |
| 8 | g.76983471T>A | CA461773213 | PEX2 | c.708A>T (p.Thr236=) | |
| 8 | g.76983471T>C | CA461773211 | PEX2 | c.708A>G (p.Thr236=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983471T>G | CA461773210 | PEX2 | c.708A>C (p.Thr236=) | ClinVar |
| 8 | g.76983471T= | CA1795351005 | PEX2 | c.708A= (p.Thr236=) | |
| 8 | g.76983471dup | CA1795351003 | PEX2 | c.708dup (p.Leu237IlefsTer24) | dbSNP |
| 8 | g.76983472_76983478del | CA913141892 | PEX2 | c.702_708del (p.Asn235Ter) | |
| 8 | g.76983472G>A | CA371556754 | PEX2 | c.707C>T (p.Thr236Ile) | gnomAD v4 |
| 8 | g.76983472G>C | CA371556755 | PEX2 | c.707C>G (p.Thr236Arg) | |
| 8 | g.76983472G= | CA1795351012 | PEX2 | c.707C= (p.Thr236=) | |
| 8 | g.76983472G>T | CA371556756 | PEX2 | c.707C>A (p.Thr236Lys) | dbSNP gnomAD v4 |
| 8 | g.76983472_76983478delinsGTATTGT | CA1795351011 | PEX2 | c.701_707delinsACAATAC (p.Asp234=) | |
| 8 | g.76983473T>A | CA371556757 | PEX2 | c.706A>T (p.Thr236Ser) | |
| 8 | g.76983473T>C | CA371556758 | PEX2 | c.706A>G (p.Thr236Ala) | |
| 8 | g.76983473T>G | CA371556759 | PEX2 | c.706A>C (p.Thr236Pro) | |
| 8 | g.76983473_76983478del | CA658821643 | PEX2 | c.701_706del (p.Asp234_Thr236delinsAla) | ClinVar dbSNP |
| 8 | g.76983474A= | CA1795351017 | PEX2 | c.705T= (p.Asn235=) | |
| 8 | g.76983474A>C | CA371556760 | PEX2 | c.705T>G (p.Asn235Lys) | |
| 8 | g.76983474A>G | CA461773216 | PEX2 | c.705T>C (p.Asn235=) | gnomAD v4 |
| 8 | g.76983474A>T | CA4788665 | PEX2 | c.705T>A (p.Asn235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983475T>A | CA371556761 | PEX2 | c.704A>T (p.Asn235Ile) | gnomAD v4 |
| 8 | g.76983475T>C | CA179988257 | PEX2 | c.704A>G (p.Asn235Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983475T>G | CA371556762 | PEX2 | c.704A>C (p.Asn235Thr) | |
| 8 | g.76983475T= | CA1795351021 | PEX2 | c.704A= (p.Asn235=) | |
| 8 | g.76983476T>A | CA371556763 | PEX2 | c.703A>T (p.Asn235Tyr) | gnomAD v4 |
| 8 | g.76983476T>C | CA371556764 | PEX2 | c.703A>G (p.Asn235Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983476T>G | CA371556765 | PEX2 | c.703A>C (p.Asn235His) | gnomAD v4 |
| 8 | g.76983476T= | CA1795351025 | PEX2 | c.703A= (p.Asn235=) | |
| 8 | g.76983476_76983479del | CA2780922342 | PEX2 | c.700_703del (p.Asp234IlefsTer3) | |
| 8 | g.76983477G>A | CA461773218 | PEX2 | c.702C>T (p.Asp234=) | gnomAD v4 |
| 8 | g.76983477G>C | CA371556766 | PEX2 | c.702C>G (p.Asp234Glu) | |
| 8 | g.76983477G>T | CA371556767 | PEX2 | c.702C>A (p.Asp234Glu) | |
| 8 | g.76983478T>A | CA371556768 | PEX2 | c.701A>T (p.Asp234Val) | |
| 8 | g.76983478T>C | CA371556769 | PEX2 | c.701A>G (p.Asp234Gly) | |
| 8 | g.76983478T>G | CA371556770 | PEX2 | c.701A>C (p.Asp234Ala) | |
| 8 | g.76983479C>A | CA371556771 | PEX2 | c.700G>T (p.Asp234Tyr) | |
| 8 | g.76983479C>G | CA371556772 | PEX2 | c.700G>C (p.Asp234His) | |
| 8 | g.76983479C>T | CA371556773 | PEX2 | c.700G>A (p.Asp234Asn) | |
| 8 | g.76983480A>C | CA371556775 | PEX2 | c.699T>G (p.Ser233Arg) | |
| 8 | g.76983480A>G | CA461773220 | PEX2 | c.699T>C (p.Ser233=) | |
| 8 | g.76983480A>T | CA371556774 | PEX2 | c.699T>A (p.Ser233Arg) | |
| 8 | g.76983481C>A | CA371556776 | PEX2 | c.698G>T (p.Ser233Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983481C= | CA1795351032 | PEX2 | c.698G= (p.Ser233=) | |
| 8 | g.76983481C>G | CA371556777 | PEX2 | c.698G>C (p.Ser233Thr) | |
| 8 | g.76983481C>T | CA4788666 | PEX2 | c.698G>A (p.Ser233Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983482T>A | CA371556778 | PEX2 | c.697A>T (p.Ser233Cys) | |
| 8 | g.76983482T>C | CA371556779 | PEX2 | c.697A>G (p.Ser233Gly) | |
| 8 | g.76983482T>G | CA371556780 | PEX2 | c.697A>C (p.Ser233Arg) | |
| 8 | g.76983483A>C | CA371556782 | PEX2 | c.696T>G (p.Asn232Lys) | |
| 8 | g.76983483A>G | CA461773224 | PEX2 | c.696T>C (p.Asn232=) | gnomAD v4 |
| 8 | g.76983483A>T | CA371556781 | PEX2 | c.696T>A (p.Asn232Lys) | |
| 8 | g.76983484T>A | CA371556783 | PEX2 | c.695A>T (p.Asn232Ile) | |
| 8 | g.76983484T>C | CA371556784 | PEX2 | c.695A>G (p.Asn232Ser) | dbSNP |
| 8 | g.76983484T>G | CA371556785 | PEX2 | c.695A>C (p.Asn232Thr) | |
| 8 | g.76983484T= | CA1795351037 | PEX2 | c.695A= (p.Asn232=) | |
| 8 | g.76983485T>A | CA371556786 | PEX2 | c.694A>T (p.Asn232Tyr) | |
| 8 | g.76983485T>C | CA371556787 | PEX2 | c.694A>G (p.Asn232Asp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983485T>G | CA371556788 | PEX2 | c.694A>C (p.Asn232His) | dbSNP gnomAD v4 |
| 8 | g.76983485T= | CA1795351040 | PEX2 | c.694A= (p.Asn232=) | |
| 8 | g.76983486A>C | CA461773225 | PEX2 | c.693T>G (p.Pro231=) | ClinVar |
| 8 | g.76983486A>G | CA461773226 | PEX2 | c.693T>C (p.Pro231=) | ClinVar |
| 8 | g.76983486A>T | CA461773227 | PEX2 | c.693T>A (p.Pro231=) | ClinVar |
| 8 | g.76983487G>A | CA371556789 | PEX2 | c.692C>T (p.Pro231Leu) | gnomAD v4 |
| 8 | g.76983487G>C | CA371556791 | PEX2 | c.692C>G (p.Pro231Arg) | |
| 8 | g.76983487G>T | CA371556790 | PEX2 | c.692C>A (p.Pro231His) | |
| 8 | g.76983488G>A | CA371556792 | PEX2 | c.691C>T (p.Pro231Ser) | |
| 8 | g.76983488G>C | CA371556793 | PEX2 | c.691C>G (p.Pro231Ala) | |
| 8 | g.76983488G>T | CA371556794 | PEX2 | c.691C>A (p.Pro231Thr) | |
| 8 | g.76983489T>A | CA461773230 | PEX2 | c.690A>T (p.Ala230=) | |
| 8 | g.76983489T>C | CA461773231 | PEX2 | c.690A>G (p.Ala230=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983489T>G | CA461773232 | PEX2 | c.690A>C (p.Ala230=) | |
| 8 | g.76983489T= | CA1795351042 | PEX2 | c.690A= (p.Ala230=) | |
| 8 | g.76983490G>A | CA371556795 | PEX2 | c.689C>T (p.Ala230Val) | gnomAD v4 |
| 8 | g.76983490G>C | CA371556796 | PEX2 | c.689C>G (p.Ala230Gly) | |
| 8 | g.76983490G>T | CA371556797 | PEX2 | c.689C>A (p.Ala230Glu) | |
| 8 | g.76983491C>A | CA371556798 | PEX2 | c.688G>T (p.Ala230Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983491C= | CA1795351045 | PEX2 | c.688G= (p.Ala230=) | |
| 8 | g.76983491C>G | CA371556799 | PEX2 | c.688G>C (p.Ala230Pro) | dbSNP |
| 8 | g.76983491C>T | CA371556800 | PEX2 | c.688G>A (p.Ala230Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983492A= | CA1795351048 | PEX2 | c.687T= (p.Gly229=) | |
| 8 | g.76983492A>C | CA461773234 | PEX2 | c.687T>G (p.Gly229=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983492A>G | CA461773235 | PEX2 | c.687T>C (p.Gly229=) | gnomAD v4 |
| 8 | g.76983492A>T | CA461773236 | PEX2 | c.687T>A (p.Gly229=) | |
| 8 | g.76983493C>A | CA371556801 | PEX2 | c.686G>T (p.Gly229Val) | |
| 8 | g.76983493C>G | CA371556802 | PEX2 | c.686G>C (p.Gly229Ala) | |
| 8 | g.76983493C>T | CA371556803 | PEX2 | c.686G>A (p.Gly229Asp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983494C>A | CA371556805 | PEX2 | c.685G>T (p.Gly229Cys) | |
| 8 | g.76983494C= | CA1795351051 | PEX2 | c.685G= (p.Gly229=) | |
| 8 | g.76983494C>G | CA371556806 | PEX2 | c.685G>C (p.Gly229Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983494C>T | CA371556804 | PEX2 | c.685G>A (p.Gly229Ser) | COSMIC |
| 8 | g.76983495A>C | CA461773242 | PEX2 | c.684T>G (p.Thr228=) | |
| 8 | g.76983495A>G | CA461773241 | PEX2 | c.684T>C (p.Thr228=) | gnomAD v4 |
| 8 | g.76983495A>T | CA461773240 | PEX2 | c.684T>A (p.Thr228=) | |
| 8 | g.76983496G>A | CA371556808 | PEX2 | c.683C>T (p.Thr228Ile) | |
| 8 | g.76983496G>C | CA371556807 | PEX2 | c.683C>G (p.Thr228Ser) | |
| 8 | g.76983496G>T | CA371556809 | PEX2 | c.683C>A (p.Thr228Asn) | |
| 8 | g.76983497T>A | CA4788667 | PEX2 | c.682A>T (p.Thr228Ser) | dbSNP ExAC gnomAD v2 |
| 8 | g.76983497T>C | CA371556811 | PEX2 | c.682A>G (p.Thr228Ala) | |
| 8 | g.76983497T>G | CA371556810 | PEX2 | c.682A>C (p.Thr228Pro) | |
| 8 | g.76983497T= | CA1795351053 | PEX2 | c.682A= (p.Thr228=) | |
| 8 | g.76983498A>C | CA461773244 | PEX2 | c.681T>G (p.Leu227=) | |
| 8 | g.76983498A>G | CA461773245 | PEX2 | c.681T>C (p.Leu227=) | ClinVar |
| 8 | g.76983498A>T | CA461773246 | PEX2 | c.681T>A (p.Leu227=) | COSMIC |
| 8 | g.76983499A= | CA1795351055 | PEX2 | c.680T= (p.Leu227=) | |
| 8 | g.76983499A>C | CA371556812 | PEX2 | c.680T>G (p.Leu227Arg) | |
| 8 | g.76983499A>G | CA371556813 | PEX2 | c.680T>C (p.Leu227Pro) | dbSNP gnomAD v2 |
| 8 | g.76983499A>T | CA371556814 | PEX2 | c.680T>A (p.Leu227His) | |
| 8 | g.76983500G>A | CA371556815 | PEX2 | c.679C>T (p.Leu227Phe) | COSMIC |
| 8 | g.76983500G>C | CA371556816 | PEX2 | c.679C>G (p.Leu227Val) | |
| 8 | g.76983500G>T | CA371556817 | PEX2 | c.679C>A (p.Leu227Ile) | |
| 8 | g.76983501A>C | CA461773248 | PEX2 | c.678T>G (p.Pro226=) | |
| 8 | g.76983501A>G | CA461773250 | PEX2 | c.678T>C (p.Pro226=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983501A>T | CA461773249 | PEX2 | c.678T>A (p.Pro226=) | COSMIC |
| 8 | g.76983502G>A | CA4788668 | PEX2 | c.677C>T (p.Pro226Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983502G>C | CA371556818 | PEX2 | c.677C>G (p.Pro226Arg) | |
| 8 | g.76983502G= | CA1795351057 | PEX2 | c.677C= (p.Pro226=) | |
| 8 | g.76983502G>T | CA371556819 | PEX2 | c.677C>A (p.Pro226His) | |
| 8 | g.76983503del | CA2579209534 | PEX2 | c.677del (p.Pro226LeufsTer12) | |
| 8 | g.76983503G>A | CA371556820 | PEX2 | c.676C>T (p.Pro226Ser) | dbSNP |
| 8 | g.76983503G>C | CA371556821 | PEX2 | c.676C>G (p.Pro226Ala) | gnomAD v4 |
| 8 | g.76983503G= | CA1795351061 | PEX2 | c.676C= (p.Pro226=) | |
| 8 | g.76983503G>T | CA371556822 | PEX2 | c.676C>A (p.Pro226Thr) | |
| 8 | g.76983503_76983506del | CA2579209535 | PEX2 | c.673_676del (p.Ile225LeufsTer12) | |
| 8 | g.76983503_76983518dup | CA1795351060 | PEX2 | c.661_676dup (p.Pro226LeufsTer12) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983504A>C | CA371556823 | PEX2 | c.675T>G (p.Ile225Met) | |
| 8 | g.76983504A>G | CA461773255 | PEX2 | c.675T>C (p.Ile225=) | |
| 8 | g.76983504A>T | CA461773256 | PEX2 | c.675T>A (p.Ile225=) | |
| 8 | g.76983505_76983507dup | CA855436397 | PEX2 | c.673_675dup (p.Ile225_Pro226insIle) | dbSNP |
| 8 | g.76983505A>C | CA371556824 | PEX2 | c.674T>G (p.Ile225Ser) | |
| 8 | g.76983505A>G | CA371556825 | PEX2 | c.674T>C (p.Ile225Thr) | |
| 8 | g.76983505A>T | CA371556826 | PEX2 | c.674T>A (p.Ile225Asn) | |
| 8 | g.76983506T>A | CA371556827 | PEX2 | c.673A>T (p.Ile225Phe) | |
| 8 | g.76983506T>C | CA4788669 | PEX2 | c.673A>G (p.Ile225Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983506T>G | CA371556828 | PEX2 | c.673A>C (p.Ile225Leu) | |
| 8 | g.76983506T= | CA1795351067 | PEX2 | c.673A= (p.Ile225=) | |
| 8 | g.76983507A= | CA1795351069 | PEX2 | c.672T= (p.Cys224=) | |
| 8 | g.76983507A>C | CA371556829 | PEX2 | c.672T>G (p.Cys224Trp) | dbSNP |
| 8 | g.76983507A>G | CA461773257 | PEX2 | c.672T>C (p.Cys224=) | |
| 8 | g.76983507A>T | CA371556830 | PEX2 | c.672T>A (p.Cys224Ter) | |
| 8 | g.76983508C>A | CA371556831 | PEX2 | c.671G>T (p.Cys224Phe) | |
| 8 | g.76983508C= | CA1795351072 | PEX2 | c.671G= (p.Cys224=) | |
| 8 | g.76983508C>G | CA371556832 | PEX2 | c.671G>C (p.Cys224Ser) | |
| 8 | g.76983508C>T | CA371556833 | PEX2 | c.671G>A (p.Cys224Tyr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983509A>C | CA371556835 | PEX2 | c.670T>G (p.Cys224Gly) | |
| 8 | g.76983509A>G | CA371556836 | PEX2 | c.670T>C (p.Cys224Arg) | gnomAD v4 |
| 8 | g.76983509A>T | CA371556834 | PEX2 | c.670T>A (p.Cys224Ser) | |
| 8 | g.76983510C>A | CA371556837 | PEX2 | c.669G>T (p.Trp223Cys) | gnomAD v4 |
| 8 | g.76983510C= | CA1795351076 | PEX2 | c.669G= (p.Trp223=) | |
| 8 | g.76983510C>G | CA371556838 | PEX2 | c.669G>C (p.Trp223Cys) | |
| 8 | g.76983510C>T | CA163286 | PEX2 | c.669G>A (p.Trp223Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983511C>A | CA371556839 | PEX2 | c.668G>T (p.Trp223Leu) | |
| 8 | g.76983511C>G | CA371556840 | PEX2 | c.668G>C (p.Trp223Ser) | |
| 8 | g.76983511C>T | CA371556841 | PEX2 | c.668G>A (p.Trp223Ter) | ClinVar dbSNP |
| 8 | g.76983512A= | CA1795351082 | PEX2 | c.667T= (p.Trp223=) | |
| 8 | g.76983512A>C | CA371556842 | PEX2 | c.667T>G (p.Trp223Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983512A>G | CA371556843 | PEX2 | c.667T>C (p.Trp223Arg) | |
| 8 | g.76983512A>T | CA371556844 | PEX2 | c.667T>A (p.Trp223Arg) | |
| 8 | g.76983513T>A | CA461773261 | PEX2 | c.666A>T (p.Ser222=) | |
| 8 | g.76983513T>C | CA461773262 | PEX2 | c.666A>G (p.Ser222=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983513T>G | CA461773263 | PEX2 | c.666A>C (p.Ser222=) | |
| 8 | g.76983513T= | CA1795351084 | PEX2 | c.666A= (p.Ser222=) | |
| 8 | g.76983514G>A | CA371556845 | PEX2 | c.665C>T (p.Ser222Leu) | COSMIC |
| 8 | g.76983514G>C | CA371556846 | PEX2 | c.665C>G (p.Ser222Ter) | |
| 8 | g.76983514G>T | CA371556847 | PEX2 | c.665C>A (p.Ser222Ter) | |
| 8 | g.76983515A= | CA1795351086 | PEX2 | c.664T= (p.Ser222=) | |
| 8 | g.76983515A>C | CA371556850 | PEX2 | c.664T>G (p.Ser222Ala) | |
| 8 | g.76983515A>G | CA371556848 | PEX2 | c.664T>C (p.Ser222Pro) | dbSNP |
| 8 | g.76983515A>T | CA371556849 | PEX2 | c.664T>A (p.Ser222Thr) | |
| 8 | g.76983516A>C | CA461773272 | PEX2 | c.663T>G (p.Ser221=) | |
| 8 | g.76983516A>G | CA461773268 | PEX2 | c.663T>C (p.Ser221=) | |
| 8 | g.76983516A>T | CA461773270 | PEX2 | c.663T>A (p.Ser221=) | |
| 8 | g.76983517G>A | CA371556851 | PEX2 | c.662C>T (p.Ser221Phe) | dbSNP gnomAD v4 COSMIC |
| 8 | g.76983517G>C | CA371556852 | PEX2 | c.662C>G (p.Ser221Cys) | |
| 8 | g.76983517G= | CA1795351090 | PEX2 | c.662C= (p.Ser221=) | |
| 8 | g.76983517G>T | CA371556853 | PEX2 | c.662C>A (p.Ser221Tyr) | |
| 8 | g.76983518A>C | CA371556854 | PEX2 | c.661T>G (p.Ser221Ala) | |
| 8 | g.76983518A>G | CA371556855 | PEX2 | c.661T>C (p.Ser221Pro) | |
| 8 | g.76983518A>T | CA371556856 | PEX2 | c.661T>A (p.Ser221Thr) | |
| 8 | g.76983519C>A | CA461773273 | PEX2 | c.660G>T (p.Leu220=) | |
| 8 | g.76983519C= | CA1795351093 | PEX2 | c.660G= (p.Leu220=) | |
| 8 | g.76983519C>G | CA461773274 | PEX2 | c.660G>C (p.Leu220=) | gnomAD v4 |
| 8 | g.76983519C>T | CA461773275 | PEX2 | c.660G>A (p.Leu220=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983520A= | CA1795351096 | PEX2 | c.659T= (p.Leu220=) | |
| 8 | g.76983520A>C | CA4788670 | PEX2 | c.659T>G (p.Leu220Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983520A>G | CA371556857 | PEX2 | c.659T>C (p.Leu220Pro) | gnomAD v4 |
| 8 | g.76983520A>T | CA371556858 | PEX2 | c.659T>A (p.Leu220Gln) | |
| 8 | g.76983521G>A | CA461773277 | PEX2 | c.658C>T (p.Leu220=) | |
| 8 | g.76983521G>C | CA4788671 | PEX2 | c.658C>G (p.Leu220Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983521G= | CA1795351105 | PEX2 | c.658C= (p.Leu220=) | |
| 8 | g.76983521G>T | CA371556859 | PEX2 | c.658C>A (p.Leu220Met) | |
| 8 | g.76983522C>A | CA371556860 | PEX2 | c.657G>T (p.Lys219Asn) | |
| 8 | g.76983522C= | CA1795351110 | PEX2 | c.657G= (p.Lys219=) | |
| 8 | g.76983522C>G | CA371556861 | PEX2 | c.657G>C (p.Lys219Asn) | ClinVar dbSNP |
| 8 | g.76983522C>T | CA461773279 | PEX2 | c.657G>A (p.Lys219=) | ClinVar gnomAD v4 |
| 8 | g.76983523T>A | CA371556863 | PEX2 | c.656A>T (p.Lys219Met) | |
| 8 | g.76983523T>C | CA371556864 | PEX2 | c.656A>G (p.Lys219Arg) | |
| 8 | g.76983523T>G | CA371556862 | PEX2 | c.656A>C (p.Lys219Thr) | |
| 8 | g.76983524T>A | CA371556867 | PEX2 | c.655A>T (p.Lys219Ter) | |
| 8 | g.76983524T>C | CA371556865 | PEX2 | c.655A>G (p.Lys219Glu) | |
| 8 | g.76983524T>G | CA371556866 | PEX2 | c.655A>C (p.Lys219Gln) | |
| 8 | g.76983525G>A | CA461773281 | PEX2 | c.654C>T (p.Ala218=) | |
| 8 | g.76983525G>C | CA461773282 | PEX2 | c.654C>G (p.Ala218=) | |
| 8 | g.76983525G>T | CA461773283 | PEX2 | c.654C>A (p.Ala218=) | |
| 8 | g.76983526G>A | CA371556868 | PEX2 | c.653C>T (p.Ala218Val) | |
| 8 | g.76983526G>C | CA4788672 | PEX2 | c.653C>G (p.Ala218Gly) | dbSNP ExAC gnomAD v2 |
| 8 | g.76983526G= | CA1795351112 | PEX2 | c.653C= (p.Ala218=) | |
| 8 | g.76983526G>T | CA371556869 | PEX2 | c.653C>A (p.Ala218Asp) | |
| 8 | g.76983527C>A | CA371556870 | PEX2 | c.652G>T (p.Ala218Ser) | |
| 8 | g.76983527C>G | CA371556871 | PEX2 | c.652G>C (p.Ala218Pro) | |
| 8 | g.76983527C>T | CA371556872 | PEX2 | c.652G>A (p.Ala218Thr) | gnomAD v4 |
| 8 | g.76983528T>A | CA371556873 | PEX2 | c.651A>T (p.Lys217Asn) | |
| 8 | g.76983528T>C | CA461773285 | PEX2 | c.651A>G (p.Lys217=) | |
| 8 | g.76983528T>G | CA371556874 | PEX2 | c.651A>C (p.Lys217Asn) | |
| 8 | g.76983529T>A | CA371556875 | PEX2 | c.650A>T (p.Lys217Ile) | |
| 8 | g.76983529T>C | CA371556876 | PEX2 | c.650A>G (p.Lys217Arg) | |
| 8 | g.76983529T>G | CA371556877 | PEX2 | c.650A>C (p.Lys217Thr) | |
| 8 | g.76983530T>A | CA371556880 | PEX2 | c.649A>T (p.Lys217Ter) | |
| 8 | g.76983530T>C | CA371556878 | PEX2 | c.649A>G (p.Lys217Glu) | |
| 8 | g.76983530T>G | CA371556879 | PEX2 | c.649A>C (p.Lys217Gln) | |
| 8 | g.76983531C>A | CA371556881 | PEX2 | c.648G>T (p.Leu216Phe) | |
| 8 | g.76983531C= | CA1795351115 | PEX2 | c.648G= (p.Leu216=) | |
| 8 | g.76983531C>G | CA4788673 | PEX2 | c.648G>C (p.Leu216Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983531C>T | CA461773290 | PEX2 | c.648G>A (p.Leu216=) | COSMIC |
| 8 | g.76983531_76983532del | CA2780922346 | PEX2 | c.647_648del (p.Leu216Ter) | |
| 8 | g.76983532A>C | CA371556882 | PEX2 | c.647T>G (p.Leu216Trp) | |
| 8 | g.76983532A>G | CA371556883 | PEX2 | c.647T>C (p.Leu216Ser) | |
| 8 | g.76983532A>T | CA371556884 | PEX2 | c.647T>A (p.Leu216Ter) | |
| 8 | g.76983533A>C | CA371556885 | PEX2 | c.646T>G (p.Leu216Val) | |
| 8 | g.76983533A>G | CA461773292 | PEX2 | c.646T>C (p.Leu216=) | gnomAD v4 COSMIC |
| 8 | g.76983533A>T | CA371556886 | PEX2 | c.646T>A (p.Leu216Met) | |
| 8 | g.76983534C>A | CA371556887 | PEX2 | c.645G>T (p.Lys215Asn) | |
| 8 | g.76983534C>G | CA371556888 | PEX2 | c.645G>C (p.Lys215Asn) | |
| 8 | g.76983534C>T | CA461773294 | PEX2 | c.645G>A (p.Lys215=) | |
| 8 | g.76983535T>A | CA371556889 | PEX2 | c.644A>T (p.Lys215Met) | |
| 8 | g.76983535T>C | CA371556890 | PEX2 | c.644A>G (p.Lys215Arg) | |
| 8 | g.76983535T>G | CA371556891 | PEX2 | c.644A>C (p.Lys215Thr) | |
| 8 | g.76983536del | CA2687718860 | PEX2 | c.644del (p.Lys215SerfsTer2) | gnomAD v4 |
| 8 | g.76983536T>A | CA371556894 | PEX2 | c.643A>T (p.Lys215Ter) | |
| 8 | g.76983536T>C | CA371556893 | PEX2 | c.643A>G (p.Lys215Glu) | gnomAD v4 |
| 8 | g.76983536T>G | CA371556892 | PEX2 | c.643A>C (p.Lys215Gln) | |
| 8 | g.76983536_76983537delinsTC | CA1795351117 | PEX2 | c.642_643delinsGA (p.Gln214=) | |
| 8 | g.76983537del | CA179988258 | PEX2 | c.642del (p.Lys215SerfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983537C>A | CA371556895 | PEX2 | c.642G>T (p.Gln214His) | |
| 8 | g.76983537C= | CA1795351123 | PEX2 | c.642G= (p.Gln214=) | |
| 8 | g.76983537C>G | CA371556896 | PEX2 | c.642G>C (p.Gln214His) | dbSNP |
| 8 | g.76983537C>T | CA461773297 | PEX2 | c.642G>A (p.Gln214=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983538T>A | CA371556897 | PEX2 | c.641A>T (p.Gln214Leu) | COSMIC |
| 8 | g.76983538T>C | CA371556898 | PEX2 | c.641A>G (p.Gln214Arg) | gnomAD v4 |
| 8 | g.76983538T>G | CA371556899 | PEX2 | c.641A>C (p.Gln214Pro) | |
| 8 | g.76983539G>A | CA371556900 | PEX2 | c.640C>T (p.Gln214Ter) | COSMIC |
| 8 | g.76983539G>C | CA371556901 | PEX2 | c.640C>G (p.Gln214Glu) | |
| 8 | g.76983539G>T | CA371556902 | PEX2 | c.640C>A (p.Gln214Lys) | |
| 8 | g.76983540G>A | CA461773300 | PEX2 | c.639C>T (p.Val213=) | ClinVar dbSNP |
| 8 | g.76983540G>C | CA461773301 | PEX2 | c.639C>G (p.Val213=) | dbSNP |
| 8 | g.76983540G= | CA1795351129 | PEX2 | c.639C= (p.Val213=) | |
| 8 | g.76983540G>T | CA461773302 | PEX2 | c.639C>A (p.Val213=) | |
| 8 | g.76983541A>C | CA371556903 | PEX2 | c.638T>G (p.Val213Gly) | |
| 8 | g.76983541A>G | CA371556904 | PEX2 | c.638T>C (p.Val213Ala) | |
| 8 | g.76983541A>T | CA371556905 | PEX2 | c.638T>A (p.Val213Asp) | |
| 8 | g.76983542C>A | CA371556907 | PEX2 | c.637G>T (p.Val213Phe) | |
| 8 | g.76983542C>G | CA371556908 | PEX2 | c.637G>C (p.Val213Leu) | |
| 8 | g.76983542C>T | CA371556906 | PEX2 | c.637G>A (p.Val213Ile) | |
| 8 | g.76983543A= | CA1795351131 | PEX2 | c.636T= (p.Asn212=) | |
| 8 | g.76983543A>C | CA371556909 | PEX2 | c.636T>G (p.Asn212Lys) | |
| 8 | g.76983543A>G | CA4788674 | PEX2 | c.636T>C (p.Asn212=) | dbSNP ExAC gnomAD v2 |
| 8 | g.76983543A>T | CA371556910 | PEX2 | c.636T>A (p.Asn212Lys) | |
| 8 | g.76983545_76983548del | CA2687718861 | PEX2 | c.633_636del (p.Ile211MetfsTer5) | gnomAD v4 |
| 8 | g.76983544T>A | CA371556911 | PEX2 | c.635A>T (p.Asn212Ile) | |
| 8 | g.76983544T>C | CA4788675 | PEX2 | c.635A>G (p.Asn212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983544T>G | CA371556912 | PEX2 | c.635A>C (p.Asn212Thr) | |
| 8 | g.76983544T= | CA1795351136 | PEX2 | c.635A= (p.Asn212=) | |
| 8 | g.76983545T>A | CA371556913 | PEX2 | c.634A>T (p.Asn212Tyr) | |
| 8 | g.76983545T>C | CA371556915 | PEX2 | c.634A>G (p.Asn212Asp) | |
| 8 | g.76983545T>G | CA371556914 | PEX2 | c.634A>C (p.Asn212His) | |
| 8 | g.76983546G>A | CA461773307 | PEX2 | c.633C>T (p.Ile211=) | COSMIC |
| 8 | g.76983546G>C | CA371556916 | PEX2 | c.633C>G (p.Ile211Met) | |
| 8 | g.76983546G>T | CA461773306 | PEX2 | c.633C>A (p.Ile211=) | |
| 8 | g.76983547A= | CA1795351139 | PEX2 | c.632T= (p.Ile211=) | |
| 8 | g.76983547A>C | CA371556917 | PEX2 | c.632T>G (p.Ile211Ser) | |
| 8 | g.76983547A>G | CA4788676 | PEX2 | c.632T>C (p.Ile211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983547A>T | CA371556918 | PEX2 | c.632T>A (p.Ile211Asn) | |
| 8 | g.76983548T>A | CA371556920 | PEX2 | c.631A>T (p.Ile211Phe) | |
| 8 | g.76983548T>C | CA371556919 | PEX2 | c.631A>G (p.Ile211Val) | COSMIC |
| 8 | g.76983548T>G | CA179988259 | PEX2 | c.631A>C (p.Ile211Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983548T= | CA1795351142 | PEX2 | c.631A= (p.Ile211=) | |
| 8 | g.76983548dup | CA2687718862 | PEX2 | c.631dup (p.Ile211AsnfsTer22) | gnomAD v4 |
| 8 | g.76983548_76983553dup | CA2687718863 | PEX2 | c.626_631dup (p.Leu210_Ile211insThrLeu) | gnomAD v4 |