8 | g.76983472_76983478del | CA913141892 | PEX2 | c.702_708del (p.Asn235Ter)
| |
8 | g.76983472_76983478delinsGTATTGT | CA1795351011 | PEX2 | c.701_707delinsACAATAC (p.Asp234=)
| |
8 | g.76983473_76983478del | CA658821643 | PEX2 | c.701_706del (p.Asp234_Thr236delinsAla)
| ClinVar dbSNP |
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 |
8 | g.76983549A= | CA1795351146 | PEX2 | c.630T= (p.Leu210=)
| |
8 | g.76983549A>C | CA461773309 | PEX2 | c.630T>G (p.Leu210=)
| |
8 | g.76983549A>G | CA4788677 | PEX2 | c.630T>C (p.Leu210=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983549A>T | CA461773310 | PEX2 | c.630T>A (p.Leu210=)
| |
8 | g.76983550A>C | CA371556922 | PEX2 | c.629T>G (p.Leu210Arg)
| |
8 | g.76983550A>G | CA371556921 | PEX2 | c.629T>C (p.Leu210Pro)
| |
8 | g.76983550A>T | CA371556923 | PEX2 | c.629T>A (p.Leu210His)
| |
8 | g.76983551G>A | CA371556924 | PEX2 | c.628C>T (p.Leu210Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983551G>C | CA371556925 | PEX2 | c.628C>G (p.Leu210Val)
| |
8 | g.76983551G= | CA1795351150 | PEX2 | c.628C= (p.Leu210=)
| |
8 | g.76983551G>T | CA371556926 | PEX2 | c.628C>A (p.Leu210Ile)
| |
8 | g.76983552T>A | CA461773311 | PEX2 | c.627A>T (p.Pro209=)
| |
8 | g.76983552T>C | CA461773312 | PEX2 | c.627A>G (p.Pro209=)
| ClinVar dbSNP |
8 | g.76983552T>G | CA461773313 | PEX2 | c.627A>C (p.Pro209=)
| |
8 | g.76983552T= | CA1795351155 | PEX2 | c.627A= (p.Pro209=)
| |
8 | g.76983553G>A | CA371556927 | PEX2 | c.626C>T (p.Pro209Leu)
| gnomAD v4 |
8 | g.76983553G>C | CA371556928 | PEX2 | c.626C>G (p.Pro209Arg)
| |
8 | g.76983553G>T | CA371556929 | PEX2 | c.626C>A (p.Pro209Gln)
| |
8 | g.76983554G>A | CA371556930 | PEX2 | c.625C>T (p.Pro209Ser)
| dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983554G>C | CA371556931 | PEX2 | c.625C>G (p.Pro209Ala)
| gnomAD v4 |
8 | g.76983554G= | CA1795351158 | PEX2 | c.625C= (p.Pro209=)
| |
8 | g.76983554G>T | CA371556932 | PEX2 | c.625C>A (p.Pro209Thr)
| gnomAD v4 |
8 | g.76983555T>A | CA371556933 | PEX2 | c.624A>T (p.Leu208Phe)
| |
8 | g.76983555T>C | CA461773315 | PEX2 | c.624A>G (p.Leu208=)
| dbSNP gnomAD v4 |
8 | g.76983555T>G | CA371556934 | PEX2 | c.624A>C (p.Leu208Phe)
| |
8 | g.76983555T= | CA1795351171 | PEX2 | c.624A= (p.Leu208=)
| |
8 | g.76983555dup | CA583367320 | PEX2 | c.624dup (p.Pro209ThrfsTer24)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983556A>C | CA371556935 | PEX2 | c.623T>G (p.Leu208Ter)
| |
8 | g.76983556A>G | CA371556936 | PEX2 | c.623T>C (p.Leu208Ser)
| gnomAD v4 |
8 | g.76983556A>T | CA371556937 | PEX2 | c.623T>A (p.Leu208Ter)
| |
8 | g.76983557dup | CA1795351175 | PEX2 | c.623dup (p.Leu208PhefsTer25)
| dbSNP |
8 | g.76983557A>C | CA371556938 | PEX2 | c.622T>G (p.Leu208Val)
| |
8 | g.76983557A>G | CA461773316 | PEX2 | c.622T>C (p.Leu208=)
| |
8 | g.76983557A>T | CA371556939 | PEX2 | c.622T>A (p.Leu208Ile)
| |
8 | g.76983558G>A | CA461773317 | PEX2 | c.621C>T (p.Leu207=)
| ClinVar COSMIC |
8 | g.76983558G>C | CA461773318 | PEX2 | c.621C>G (p.Leu207=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983558G= | CA1795351178 | PEX2 | c.621C= (p.Leu207=)
| |
8 | g.76983558G>T | CA461773319 | PEX2 | c.621C>A (p.Leu207=)
| |
8 | g.76983559A= | CA1795351182 | PEX2 | c.620T= (p.Leu207=)
| |
8 | g.76983559A>C | CA371556940 | PEX2 | c.620T>G (p.Leu207Arg)
| |
8 | g.76983559A>G | CA179988260 | PEX2 | c.620T>C (p.Leu207Pro)
| dbSNP |
8 | g.76983559A>T | CA371556941 | PEX2 | c.620T>A (p.Leu207His)
| |
8 | g.76983560G>A | CA4788678 | PEX2 | c.619C>T (p.Leu207Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983560G>C | CA371556942 | PEX2 | c.619C>G (p.Leu207Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983560G= | CA1795351188 | PEX2 | c.619C= (p.Leu207=)
| |
8 | g.76983560G>T | CA371556943 | PEX2 | c.619C>A (p.Leu207Ile)
| |
8 | g.76983561A>C | CA371556944 | PEX2 | c.618T>G (p.Phe206Leu)
| |
8 | g.76983561A>G | CA461773320 | PEX2 | c.618T>C (p.Phe206=)
| |
8 | g.76983561A>T | CA371556945 | PEX2 | c.618T>A (p.Phe206Leu)
| |
8 | g.76983565del | CA2573053054 | PEX2 | c.618del (p.Leu207SerfsTer10)
| ClinVar dbSNP |
8 | g.76983562A>C | CA371556946 | PEX2 | c.617T>G (p.Phe206Cys)
| |
8 | g.76983562A>G | CA371556947 | PEX2 | c.617T>C (p.Phe206Ser)
| gnomAD v4 |
8 | g.76983562A>T | CA371556948 | PEX2 | c.617T>A (p.Phe206Tyr)
| |
8 | g.76983563A= | CA1795351195 | PEX2 | c.616T= (p.Phe206=)
| |
8 | g.76983563A>C | CA371556950 | PEX2 | c.616T>G (p.Phe206Val)
| |
8 | g.76983563A>G | CA4788679 | PEX2 | c.616T>C (p.Phe206Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.76983563A>T | CA371556949 | PEX2 | c.616T>A (p.Phe206Ile)
| |
8 | g.76983564A>C | CA371556951 | PEX2 | c.615T>G (p.Ile205Met)
| |
8 | g.76983564A>G | CA461773322 | PEX2 | c.615T>C (p.Ile205=)
| |
8 | g.76983564A>T | CA461773321 | PEX2 | c.615T>A (p.Ile205=)
| |
8 | g.76983565A>C | CA371556952 | PEX2 | c.614T>G (p.Ile205Ser)
| ClinVar |
8 | g.76983565A>G | CA371556953 | PEX2 | c.614T>C (p.Ile205Thr)
| |
8 | g.76983565A>T | CA371556954 | PEX2 | c.614T>A (p.Ile205Asn)
| |
8 | g.76983566T>A | CA371556955 | PEX2 | c.613A>T (p.Ile205Phe)
| |
8 | g.76983566T>C | CA371556956 | PEX2 | c.613A>G (p.Ile205Val)
| |
8 | g.76983566T>G | CA371556957 | PEX2 | c.613A>C (p.Ile205Leu)
| |
8 | g.76983567C>A | CA461773324 | PEX2 | c.612G>T (p.Leu204=)
| |
8 | g.76983567C= | CA1795351200 | PEX2 | c.612G= (p.Leu204=)
| |
8 | g.76983567C>G | CA461773326 | PEX2 | c.612G>C (p.Leu204=)
| |
8 | g.76983567C>T | CA4788680 | PEX2 | c.612G>A (p.Leu204=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.76983568A>C | CA371556958 | PEX2 | c.611T>G (p.Leu204Arg)
| |
8 | g.76983568A>G | CA371556959 | PEX2 | c.611T>C (p.Leu204Pro)
| |
8 | g.76983568A>T | CA371556960 | PEX2 | c.611T>A (p.Leu204Gln)
| |
8 | g.76983569_76983570del | CA2580078952 | PEX2 | c.610_611del (p.Leu204AspfsTer28)
| ClinVar |
8 | g.76983569G>A | CA461773329 | PEX2 | c.610C>T (p.Leu204=)
| |
8 | g.76983569G>C | CA371556961 | PEX2 | c.610C>G (p.Leu204Val)
| |
8 | g.76983569G>T | CA371556962 | PEX2 | c.610C>A (p.Leu204Met)
| |
8 | g.76983570A>C | CA371556964 | PEX2 | c.609T>G (p.Phe203Leu)
| |
8 | g.76983570A>G | CA461773330 | PEX2 | c.609T>C (p.Phe203=)
| |
8 | g.76983570A>T | CA371556963 | PEX2 | c.609T>A (p.Phe203Leu)
| gnomAD v4 |
8 | g.76983571A>C | CA371556965 | PEX2 | c.608T>G (p.Phe203Cys)
| ClinVar dbSNP gnomAD v4 |
8 | g.76983571A>G | CA371556966 | PEX2 | c.608T>C (p.Phe203Ser)
| |
8 | g.76983571A>T | CA371556967 | PEX2 | c.608T>A (p.Phe203Tyr)
| |
8 | g.76983572A= | CA1795351203 | PEX2 | c.607T= (p.Phe203=)
| |
8 | g.76983572A>C | CA371556968 | PEX2 | c.607T>G (p.Phe203Val)
| |
8 | g.76983572A>G | CA371556969 | PEX2 | c.607T>C (p.Phe203Leu)
| ClinVar dbSNP gnomAD v4 |
8 | g.76983572A>T | CA371556970 | PEX2 | c.607T>A (p.Phe203Ile)
| |
8 | g.76983573T>A | CA371556971 | PEX2 | c.606A>T (p.Glu202Asp)
| ClinVar dbSNP |
8 | g.76983573T>C | CA4788681 | PEX2 | c.606A>G (p.Glu202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983573T>G | CA371556972 | PEX2 | c.606A>C (p.Glu202Asp)
| |
8 | g.76983573T= | CA1795351204 | PEX2 | c.606A= (p.Glu202=)
| |
8 | g.76983574T>A | CA371556973 | PEX2 | c.605A>T (p.Glu202Val)
| |
8 | g.76983574T>C | CA371556974 | PEX2 | c.605A>G (p.Glu202Gly)
| |
8 | g.76983574T>G | CA371556975 | PEX2 | c.605A>C (p.Glu202Ala)
| dbSNP |
8 | g.76983575C>A | CA371556978 | PEX2 | c.604G>T (p.Glu202Ter)
| |
8 | g.76983575C>G | CA371556977 | PEX2 | c.604G>C (p.Glu202Gln)
| ClinVar gnomAD v4 |
8 | g.76983575C>T | CA371556976 | PEX2 | c.604G>A (p.Glu202Lys)
| COSMIC |
8 | g.76983576A>C | CA461773334 | PEX2 | c.603T>G (p.Ala201=)
| |
8 | g.76983576A>G | CA461773335 | PEX2 | c.603T>C (p.Ala201=)
| ClinVar |
8 | g.76983576A>T | CA461773336 | PEX2 | c.603T>A (p.Ala201=)
| |