22 | g.18078463G>A | CA10093218 | PEX26 | c.87G>A (p.Pro29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078463G>C | CA513184876 | PEX26 | c.87G>C (p.Pro29=)
| ClinVar |
22 | g.18078463G= | CA2395402776 | PEX26 | c.87G= (p.Pro29=)
| |
22 | g.18078463G>T | CA513184873 | PEX26 | c.87G>T (p.Pro29=)
| ClinVar |
22 | g.18078464G>A | CA410264452 | PEX26 | c.88G>A (p.Ala30Thr)
| dbSNP gnomAD v2 |
22 | g.18078464G>C | CA410264455 | PEX26 | c.88G>C (p.Ala30Pro)
| gnomAD v4 |
22 | g.18078464G= | CA2395402777 | PEX26 | c.88G= (p.Ala30=)
| |
22 | g.18078464G>T | CA410264459 | PEX26 | c.88G>T (p.Ala30Ser)
| gnomAD v4 |
22 | g.18078465C>A | CA410264461 | PEX26 | c.89C>A (p.Ala30Asp)
| |
22 | g.18078465C= | CA2395402778 | PEX26 | c.89C= (p.Ala30=)
| |
22 | g.18078465C>G | CA410264464 | PEX26 | c.89C>G (p.Ala30Gly)
| |
22 | g.18078465C>T | CA10093219 | PEX26 | c.89C>T (p.Ala30Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078466C>A | CA513184889 | PEX26 | c.90C>A (p.Ala30=)
| gnomAD v4 |
22 | g.18078466C>G | CA513184887 | PEX26 | c.90C>G (p.Ala30=)
| |
22 | g.18078466C>T | CA513184885 | PEX26 | c.90C>T (p.Ala30=)
| ClinVar gnomAD v4 |
22 | g.18078467C>A | CA513184892 | PEX26 | c.91C>A (p.Arg31=)
| gnomAD v4 |
22 | g.18078467C= | CA2395402779 | PEX26 | c.91C= (p.Arg31=)
| |
22 | g.18078467C>G | CA410264469 | PEX26 | c.91C>G (p.Arg31Gly)
| dbSNP |
22 | g.18078467C>T | CA10093220 | PEX26 | c.91C>T (p.Arg31Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078468G>A | CA410264476 | PEX26 | c.92G>A (p.Arg31Gln)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078468G>C | CA410264480 | PEX26 | c.92G>C (p.Arg31Pro)
| |
22 | g.18078468G= | CA2395402780 | PEX26 | c.92G= (p.Arg31=)
| |
22 | g.18078468G>T | CA410264483 | PEX26 | c.92G>T (p.Arg31Leu)
| gnomAD v4 |
22 | g.18078470del | CA2655183885 | PEX26 | c.94del (p.Ala32ArgfsTer?)
| gnomAD v4 |
22 | g.18078469G>A | CA513184901 | PEX26 | c.93G>A (p.Arg31=)
| gnomAD v4 |
22 | g.18078469G>C | CA513184904 | PEX26 | c.93G>C (p.Arg31=)
| |
22 | g.18078469G>T | CA513184902 | PEX26 | c.93G>T (p.Arg31=)
| |
22 | g.18078470G>A | CA410264487 | PEX26 | c.94G>A (p.Ala32Thr)
| gnomAD v4 |
22 | g.18078470G>C | CA410264490 | PEX26 | c.94G>C (p.Ala32Pro)
| |
22 | g.18078470G>T | CA410264493 | PEX26 | c.94G>T (p.Ala32Ser)
| |
22 | g.18078471C>A | CA410264496 | PEX26 | c.95C>A (p.Ala32Glu)
| gnomAD v4 |
22 | g.18078471C>G | CA410264502 | PEX26 | c.95C>G (p.Ala32Gly)
| |
22 | g.18078471C>T | CA410264500 | PEX26 | c.95C>T (p.Ala32Val)
| gnomAD v4 |
22 | g.18078472G>A | CA513184912 | PEX26 | c.96G>A (p.Ala32=)
| gnomAD v4 |
22 | g.18078472G>C | CA513184913 | PEX26 | c.96G>C (p.Ala32=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078472G= | CA2395402781 | PEX26 | c.96G= (p.Ala32=)
| |
22 | g.18078472G>T | CA513184914 | PEX26 | c.96G>T (p.Ala32=)
| ClinVar gnomAD v4 |
22 | g.18078473C>A | CA410264506 | PEX26 | c.97C>A (p.Pro33Thr)
| |
22 | g.18078473C= | CA2395402782 | PEX26 | c.97C= (p.Pro33=)
| |
22 | g.18078473C>G | CA410264509 | PEX26 | c.97C>G (p.Pro33Ala)
| |
22 | g.18078473C>T | CA410264512 | PEX26 | c.97C>T (p.Pro33Ser)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078474C>A | CA410264516 | PEX26 | c.98C>A (p.Pro33Gln)
| |
22 | g.18078474C= | CA2395402783 | PEX26 | c.98C= (p.Pro33=)
| |
22 | g.18078474C>G | CA10093222 | PEX26 | c.98C>G (p.Pro33Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078474C>T | CA10093221 | PEX26 | c.98C>T (p.Pro33Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078475G>A | CA513184924 | PEX26 | c.99G>A (p.Pro33=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078475G>C | CA513184925 | PEX26 | c.99G>C (p.Pro33=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078475G= | CA2395402784 | PEX26 | c.99G= (p.Pro33=)
| |
22 | g.18078475G>T | CA513184927 | PEX26 | c.99G>T (p.Pro33=)
| gnomAD v4 |
22 | g.18078476G>A | CA10093223 | PEX26 | c.100G>A (p.Ala34Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078476G>C | CA410264527 | PEX26 | c.100G>C (p.Ala34Pro)
| |
22 | g.18078476G= | CA2395402785 | PEX26 | c.100G= (p.Ala34=)
| |
22 | g.18078476G>T | CA410264530 | PEX26 | c.100G>T (p.Ala34Ser)
| dbSNP gnomAD v4 |
22 | g.18078477C>A | CA410264536 | PEX26 | c.101C>A (p.Ala34Asp)
| |
22 | g.18078477C>G | CA410264539 | PEX26 | c.101C>G (p.Ala34Gly)
| |
22 | g.18078477C>T | CA410264543 | PEX26 | c.101C>T (p.Ala34Val)
| gnomAD v4 |
22 | g.18078478C>A | CA513184936 | PEX26 | c.102C>A (p.Ala34=)
| |
22 | g.18078478C= | CA2395402786 | PEX26 | c.102C= (p.Ala34=)
| |
22 | g.18078478C>G | CA513184938 | PEX26 | c.102C>G (p.Ala34=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078478C>T | CA513184939 | PEX26 | c.102C>T (p.Ala34=)
| dbSNP gnomAD v2 |
22 | g.18078479G>A | CA10093224 | PEX26 | c.103G>A (p.Val35Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078479G>C | CA410264550 | PEX26 | c.103G>C (p.Val35Leu)
| |
22 | g.18078479G= | CA2395402787 | PEX26 | c.103G= (p.Val35=)
| |
22 | g.18078479G>T | CA410264545 | PEX26 | c.103G>T (p.Val35Leu)
| gnomAD v4 |
22 | g.18078480T>A | CA410264559 | PEX26 | c.104T>A (p.Val35Glu)
| |
22 | g.18078480T>C | CA410264563 | PEX26 | c.104T>C (p.Val35Ala)
| |
22 | g.18078480T>G | CA410264561 | PEX26 | c.104T>G (p.Val35Gly)
| |
22 | g.18078481G>A | CA321284390 | PEX26 | c.105G>A (p.Val35=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078481G>C | CA513184950 | PEX26 | c.105G>C (p.Val35=)
| |
22 | g.18078481G= | CA2395402788 | PEX26 | c.105G= (p.Val35=)
| |
22 | g.18078481G>T | CA513184952 | PEX26 | c.105G>T (p.Val35=)
| gnomAD v4 |
22 | g.18078482G>A | CA410264566 | PEX26 | c.106G>A (p.Asp36Asn)
| |
22 | g.18078482G>C | CA410264567 | PEX26 | c.106G>C (p.Asp36His)
| |
22 | g.18078482G>T | CA410264570 | PEX26 | c.106G>T (p.Asp36Tyr)
| gnomAD v4 |
22 | g.18078483A= | CA2395402789 | PEX26 | c.107A= (p.Asp36=)
| |
22 | g.18078483A>C | CA410264572 | PEX26 | c.107A>C (p.Asp36Ala)
| |
22 | g.18078483A>G | CA410264574 | PEX26 | c.107A>G (p.Asp36Gly)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078483A>T | CA410264576 | PEX26 | c.107A>T (p.Asp36Val)
| |
22 | g.18078484C>A | CA410264579 | PEX26 | c.108C>A (p.Asp36Glu)
| dbSNP gnomAD v2 |
22 | g.18078484C= | CA2395402790 | PEX26 | c.108C= (p.Asp36=)
| |
22 | g.18078484C>G | CA410264581 | PEX26 | c.108C>G (p.Asp36Glu)
| |
22 | g.18078484C>T | CA513184962 | PEX26 | c.108C>T (p.Asp36=)
| gnomAD v4 |
22 | g.18078485C>A | CA410264586 | PEX26 | c.109C>A (p.Leu37Ile)
| |
22 | g.18078485C= | CA2395402791 | PEX26 | c.109C= (p.Leu37=)
| |
22 | g.18078485C>G | CA410264589 | PEX26 | c.109C>G (p.Leu37Val)
| |
22 | g.18078485C>T | CA410264592 | PEX26 | c.109C>T (p.Leu37Phe)
| ClinVar dbSNP COSMIC |
22 | g.18078486T>A | CA410264597 | PEX26 | c.110T>A (p.Leu37His)
| |
22 | g.18078486T>C | CA410264600 | PEX26 | c.110T>C (p.Leu37Pro)
| |
22 | g.18078486T>G | CA410264605 | PEX26 | c.110T>G (p.Leu37Arg)
| ClinVar |
22 | g.18078487T>A | CA513184972 | PEX26 | c.111T>A (p.Leu37=)
| |
22 | g.18078487T>C | CA513184974 | PEX26 | c.111T>C (p.Leu37=)
| |
22 | g.18078487T>G | CA513184975 | PEX26 | c.111T>G (p.Leu37=)
| ClinVar |
22 | g.18078488C>A | CA410264613 | PEX26 | c.112C>A (p.Leu38Met)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078488C= | CA2395402792 | PEX26 | c.112C= (p.Leu38=)
| |
22 | g.18078488C>G | CA410264609 | PEX26 | c.112C>G (p.Leu38Val)
| |
22 | g.18078488C>T | CA513184980 | PEX26 | c.112C>T (p.Leu38=)
| ClinVar dbSNP gnomAD v2 |
22 | g.18078489T>A | CA410264619 | PEX26 | c.113T>A (p.Leu38Gln)
| |
22 | g.18078489T>C | CA410264622 | PEX26 | c.113T>C (p.Leu38Pro)
| gnomAD v4 |
22 | g.18078489T>G | CA410264625 | PEX26 | c.113T>G (p.Leu38Arg)
| |
22 | g.18078490G>A | CA513184983 | PEX26 | c.114G>A (p.Leu38=)
| |
22 | g.18078490G>C | CA513184987 | PEX26 | c.114G>C (p.Leu38=)
| |
22 | g.18078490G>T | CA513184985 | PEX26 | c.114G>T (p.Leu38=)
| gnomAD v4 |
22 | g.18078491G>A | CA410264628 | PEX26 | c.115G>A (p.Glu39Lys)
| |
22 | g.18078491G>C | CA410264630 | PEX26 | c.115G>C (p.Glu39Gln)
| |
22 | g.18078491G>T | CA410264634 | PEX26 | c.115G>T (p.Glu39Ter)
| gnomAD v4 |
22 | g.18078492A= | CA2395402793 | PEX26 | c.116A= (p.Glu39=)
| |
22 | g.18078492A>C | CA410264654 | PEX26 | c.116A>C (p.Glu39Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078492A>G | CA10093225 | PEX26 | c.116A>G (p.Glu39Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078492A>T | CA410264650 | PEX26 | c.116A>T (p.Glu39Val)
| |
22 | g.18078493G>A | CA513184994 | PEX26 | c.117G>A (p.Glu39=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078493G>C | CA410264661 | PEX26 | c.117G>C (p.Glu39Asp)
| |
22 | g.18078493G= | CA2395402794 | PEX26 | c.117G= (p.Glu39=)
| |
22 | g.18078493G>T | CA410264663 | PEX26 | c.117G>T (p.Glu39Asp)
| gnomAD v4 |
22 | g.18078494G>A | CA410264668 | PEX26 | c.118G>A (p.Glu40Lys)
| |
22 | g.18078494G>C | CA410264671 | PEX26 | c.118G>C (p.Glu40Gln)
| |
22 | g.18078494G>T | CA410264674 | PEX26 | c.118G>T (p.Glu40Ter)
| gnomAD v4 |
22 | g.18078495A= | CA2395402795 | PEX26 | c.119A= (p.Glu40=)
| |
22 | g.18078495A>C | CA410264684 | PEX26 | c.119A>C (p.Glu40Ala)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078495A>G | CA410264678 | PEX26 | c.119A>G (p.Glu40Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078495A>T | CA410264680 | PEX26 | c.119A>T (p.Glu40Val)
| |
22 | g.18078496G>A | CA513185004 | PEX26 | c.120G>A (p.Glu40=)
| |
22 | g.18078496G>C | CA321284395 | PEX26 | c.120G>C (p.Glu40Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078496G= | CA2395402796 | PEX26 | c.120G= (p.Glu40=)
| |
22 | g.18078496G>T | CA410264687 | PEX26 | c.120G>T (p.Glu40Asp)
| gnomAD v4 |
22 | g.18078497del | CA2818335173 | PEX26 | c.121del (p.Ala41ArgfsTer?)
| |
22 | g.18078497G>A | CA410264690 | PEX26 | c.121G>A (p.Ala41Thr)
| ClinVar |
22 | g.18078497G>C | CA410264691 | PEX26 | c.121G>C (p.Ala41Pro)
| |
22 | g.18078497G>T | CA410264696 | PEX26 | c.121G>T (p.Ala41Ser)
| |
22 | g.18078498C>A | CA410264708 | PEX26 | c.122C>A (p.Ala41Glu)
| |
22 | g.18078498C= | CA2395402797 | PEX26 | c.122C= (p.Ala41=)
| |
22 | g.18078498C>G | CA410264705 | PEX26 | c.122C>G (p.Ala41Gly)
| dbSNP |
22 | g.18078498C>T | CA410264701 | PEX26 | c.122C>T (p.Ala41Val)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078499G>A | CA513185018 | PEX26 | c.123G>A (p.Ala41=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078499G>C | CA513185015 | PEX26 | c.123G>C (p.Ala41=)
| |
22 | g.18078499G= | CA2395402798 | PEX26 | c.123G= (p.Ala41=)
| |
22 | g.18078499G>T | CA513185016 | PEX26 | c.123G>T (p.Ala41=)
| |
22 | g.18078500G>A | CA410264713 | PEX26 | c.124G>A (p.Ala42Thr)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078500G>C | CA410264714 | PEX26 | c.124G>C (p.Ala42Pro)
| |
22 | g.18078500G= | CA2395402799 | PEX26 | c.124G= (p.Ala42=)
| |
22 | g.18078500G>T | CA410264716 | PEX26 | c.124G>T (p.Ala42Ser)
| gnomAD v4 |
22 | g.18078501C>A | CA410264721 | PEX26 | c.125C>A (p.Ala42Asp)
| |
22 | g.18078501C>G | CA410264723 | PEX26 | c.125C>G (p.Ala42Gly)
| dbSNP |
22 | g.18078501C>T | CA410264729 | PEX26 | c.125C>T (p.Ala42Val)
| gnomAD v4 |
22 | g.18078502C>A | CA513185023 | PEX26 | c.126C>A (p.Ala42=)
| |
22 | g.18078502C>G | CA513185025 | PEX26 | c.126C>G (p.Ala42=)
| |
22 | g.18078502C>T | CA513185031 | PEX26 | c.126C>T (p.Ala42=)
| ClinVar |
22 | g.18078503G>A | CA410264732 | PEX26 | c.127G>A (p.Asp43Asn)
| |
22 | g.18078503G>C | CA410264738 | PEX26 | c.127G>C (p.Asp43His)
| |
22 | g.18078503G>T | CA410264735 | PEX26 | c.127G>T (p.Asp43Tyr)
| gnomAD v4 |
22 | g.18078504A>C | CA410264740 | PEX26 | c.128A>C (p.Asp43Ala)
| |
22 | g.18078504A>G | CA410264744 | PEX26 | c.128A>G (p.Asp43Gly)
| |
22 | g.18078504A>T | CA410264748 | PEX26 | c.128A>T (p.Asp43Val)
| |
22 | g.18078504_18078507delinsACCT | CA2395402800 | PEX26 | c.128_131delinsACCT (p.Asp43=)
| |
22 | g.18078505C>A | CA410264752 | PEX26 | c.129C>A (p.Asp43Glu)
| |
22 | g.18078505C>G | CA410264757 | PEX26 | c.129C>G (p.Asp43Glu)
| |
22 | g.18078505C>T | CA513185041 | PEX26 | c.129C>T (p.Asp43=)
| ClinVar |
22 | g.18078508_18078510del | CA916083782 | PEX26 | c.132_134del (p.Leu45del)
| ClinVar dbSNP |
22 | g.18078506C>A | CA410264762 | PEX26 | c.130C>A (p.Leu44Ile)
| gnomAD v4 |
22 | g.18078506C= | CA2395402801 | PEX26 | c.130C= (p.Leu44=)
| |
22 | g.18078506C>G | CA410264765 | PEX26 | c.130C>G (p.Leu44Val)
| |
22 | g.18078506C>T | CA201672 | PEX26 | c.130C>T (p.Leu44Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078507T>A | CA410264772 | PEX26 | c.131T>A (p.Leu44His)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078507T>C | CA10093226 | PEX26 | c.131T>C (p.Leu44Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078507T>G | CA410264777 | PEX26 | c.131T>G (p.Leu44Arg)
| |
22 | g.18078507T= | CA2395402802 | PEX26 | c.131T= (p.Leu44=)
| |
22 | g.18078508C>A | CA513185052 | PEX26 | c.132C>A (p.Leu44=)
| gnomAD v4 |
22 | g.18078508C= | CA2395402804 | PEX26 | c.132C= (p.Leu44=)
| |
22 | g.18078508C>G | CA513185054 | PEX26 | c.132C>G (p.Leu44=)
| ClinVar dbSNP |
22 | g.18078508C>T | CA513185056 | PEX26 | c.132C>T (p.Leu44=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078508_18078511delinsCCTG | CA2395402803 | PEX26 | c.132_135delinsCCTG (p.Leu44=)
| |
22 | g.18078509C>A | CA410264781 | PEX26 | c.133C>A (p.Leu45Met)
| |
22 | g.18078509C= | CA2395402805 | PEX26 | c.133C= (p.Leu45=)
| |
22 | g.18078509C>G | CA410264785 | PEX26 | c.133C>G (p.Leu45Val)
| |
22 | g.18078509C>T | CA513185059 | PEX26 | c.133C>T (p.Leu45=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078509_18078511del | CA10093227 | PEX26 | c.133_135del (p.Leu45del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078509_18078512delinsCTGG | CA2395402806 | PEX26 | c.133_136delinsCTGG (p.Leu45=)
| |
22 | g.18078510T>A | CA410264790 | PEX26 | c.134T>A (p.Leu45Gln)
| |
22 | g.18078510T>C | CA115374 | PEX26 | c.134T>C (p.Leu45Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078510T>G | CA410264794 | PEX26 | c.134T>G (p.Leu45Arg)
| |
22 | g.18078510T= | CA2395402808 | PEX26 | c.134T= (p.Leu45=)
| |
22 | g.18078515_18078517del | CA2395402807 | PEX26 | c.139_141del (p.Val47del)
| dbSNP |
22 | g.18078511G>A | CA513185063 | PEX26 | c.135G>A (p.Leu45=)
| gnomAD v4 |
22 | g.18078511G>C | CA513185064 | PEX26 | c.135G>C (p.Leu45=)
| |
22 | g.18078511G>T | CA513185065 | PEX26 | c.135G>T (p.Leu45=)
| gnomAD v4 |
22 | g.18078512G>A | CA10093228 | PEX26 | c.136G>A (p.Val46Met)
| dbSNP ExAC gnomAD v4 |
22 | g.18078512G>C | CA410264805 | PEX26 | c.136G>C (p.Val46Leu)
| |
22 | g.18078512G= | CA2395402809 | PEX26 | c.136G= (p.Val46=)
| |
22 | g.18078512G>T | CA410264808 | PEX26 | c.136G>T (p.Val46Leu)
| gnomAD v4 |
22 | g.18078513T>A | CA410264811 | PEX26 | c.137T>A (p.Val46Glu)
| |
22 | g.18078513T>C | CA410264812 | PEX26 | c.137T>C (p.Val46Ala)
| |
22 | g.18078513T>G | CA410264813 | PEX26 | c.137T>G (p.Val46Gly)
| |
22 | g.18078514G>A | CA513185066 | PEX26 | c.138G>A (p.Val46=)
| |
22 | g.18078514G>C | CA513185067 | PEX26 | c.138G>C (p.Val46=)
| |
22 | g.18078514G>T | CA513185068 | PEX26 | c.138G>T (p.Val46=)
| gnomAD v4 |
22 | g.18078515G>A | CA410264815 | PEX26 | c.139G>A (p.Val47Met)
| gnomAD v4 |
22 | g.18078515G>C | CA410264817 | PEX26 | c.139G>C (p.Val47Leu)
| dbSNP gnomAD v4 |
22 | g.18078515G= | CA2395402810 | PEX26 | c.139G= (p.Val47=)
| |
22 | g.18078515G>T | CA410264827 | PEX26 | c.139G>T (p.Val47Leu)
| gnomAD v4 |
22 | g.18078516T>A | CA410264832 | PEX26 | c.140T>A (p.Val47Glu)
| |
22 | g.18078516T>C | CA410264836 | PEX26 | c.140T>C (p.Val47Ala)
| |
22 | g.18078516T>G | CA410264838 | PEX26 | c.140T>G (p.Val47Gly)
| |
22 | g.18078517G>A | CA513185069 | PEX26 | c.141G>A (p.Val47=)
| gnomAD v4 |
22 | g.18078517G>C | CA513185070 | PEX26 | c.141G>C (p.Val47=)
| ClinVar gnomAD v4 |
22 | g.18078517G>T | CA513185071 | PEX26 | c.141G>T (p.Val47=)
| gnomAD v4 |
22 | g.18078518C>A | CA410264849 | PEX26 | c.142C>A (p.His48Asn)
| gnomAD v4 |
22 | g.18078518C= | CA2395402811 | PEX26 | c.142C= (p.His48=)
| |
22 | g.18078518C>G | CA410264843 | PEX26 | c.142C>G (p.His48Asp)
| |
22 | g.18078518C>T | CA10093229 | PEX26 | c.142C>T (p.His48Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078519A>C | CA410264855 | PEX26 | c.143A>C (p.His48Pro)
| |
22 | g.18078519A>G | CA410264857 | PEX26 | c.143A>G (p.His48Arg)
| |
22 | g.18078519A>T | CA410264860 | PEX26 | c.143A>T (p.His48Leu)
| |
22 | g.18078520C>A | CA410264864 | PEX26 | c.144C>A (p.His48Gln)
| |
22 | g.18078520C>G | CA410264866 | PEX26 | c.144C>G (p.His48Gln)
| |
22 | g.18078520C>T | CA513185072 | PEX26 | c.144C>T (p.His48=)
| gnomAD v4 |
22 | g.18078521C>A | CA410264870 | PEX26 | c.145C>A (p.Leu49Met)
| gnomAD v4 |
22 | g.18078521C= | CA2395402812 | PEX26 | c.145C= (p.Leu49=)
| |
22 | g.18078521C>G | CA410264873 | PEX26 | c.145C>G (p.Leu49Val)
| ClinVar |
22 | g.18078521C>T | CA513185073 | PEX26 | c.145C>T (p.Leu49=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078522T>A | CA410264876 | PEX26 | c.146T>A (p.Leu49Gln)
| |
22 | g.18078522T>C | CA410264877 | PEX26 | c.146T>C (p.Leu49Pro)
| gnomAD v4 |
22 | g.18078522T>G | CA410264880 | PEX26 | c.146T>G (p.Leu49Arg)
| |
22 | g.18078523G>A | CA513184384 | PEX26 | c.147G>A (p.Leu49=)
| gnomAD v4 |
22 | g.18078523G>C | CA513184386 | PEX26 | c.147G>C (p.Leu49=)
| |
22 | g.18078523G>T | CA513184388 | PEX26 | c.147G>T (p.Leu49=)
| gnomAD v4 |
22 | g.18078524G>A | CA410264893 | PEX26 | c.148G>A (p.Asp50Asn)
| gnomAD v4 |
22 | g.18078524G>C | CA410264888 | PEX26 | c.148G>C (p.Asp50His)
| ClinVar dbSNP |
22 | g.18078524G= | CA2395402813 | PEX26 | c.148G= (p.Asp50=)
| |
22 | g.18078524G>T | CA410264885 | PEX26 | c.148G>T (p.Asp50Tyr)
| gnomAD v4 |
22 | g.18078525A>C | CA410264898 | PEX26 | c.149A>C (p.Asp50Ala)
| |
22 | g.18078525A>G | CA410264901 | PEX26 | c.149A>G (p.Asp50Gly)
| gnomAD v4 |
22 | g.18078525A>T | CA410264904 | PEX26 | c.149A>T (p.Asp50Val)
| |
22 | g.18078526C>A | CA410264908 | PEX26 | c.150C>A (p.Asp50Glu)
| |
22 | g.18078526C= | CA2395402814 | PEX26 | c.150C= (p.Asp50=)
| |
22 | g.18078526C>G | CA410264912 | PEX26 | c.150C>G (p.Asp50Glu)
| dbSNP |
22 | g.18078526C>T | CA513184402 | PEX26 | c.150C>T (p.Asp50=)
| ClinVar dbSNP |
22 | g.18078527T>A | CA410264924 | PEX26 | c.151T>A (p.Phe51Ile)
| |
22 | g.18078527T>C | CA410264927 | PEX26 | c.151T>C (p.Phe51Leu)
| |
22 | g.18078527T>G | CA410264929 | PEX26 | c.151T>G (p.Phe51Val)
| gnomAD v4 |
22 | g.18078528T>A | CA10093230 | PEX26 | c.152T>A (p.Phe51Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078528T>C | CA410264936 | PEX26 | c.152T>C (p.Phe51Ser)
| gnomAD v4 |
22 | g.18078528T>G | CA410264939 | PEX26 | c.152T>G (p.Phe51Cys)
| |
22 | g.18078528T= | CA2395402815 | PEX26 | c.152T= (p.Phe51=)
| |
22 | g.18078528_18078529delinsTC | CA2395402816 | PEX26 | c.152_153delinsTC (p.Phe51=)
| |
22 | g.18078529C>A | CA10093231 | PEX26 | c.153C>A (p.Phe51Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078529C= | CA2395402817 | PEX26 | c.153C= (p.Phe51=)
| |
22 | g.18078529C>G | CA410264947 | PEX26 | c.153C>G (p.Phe51Leu)
| |
22 | g.18078529C>T | CA513184416 | PEX26 | c.153C>T (p.Phe51=)
| gnomAD v4 |
22 | g.18078530del | CA638502299 | PEX26 | c.154del (p.Arg52GlyfsTer30)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078530C>A | CA513184419 | PEX26 | c.154C>A (p.Arg52=)
| dbSNP gnomAD v2 |
22 | g.18078530C= | CA2395402818 | PEX26 | c.154C= (p.Arg52=)
| |
22 | g.18078530C>G | CA410264953 | PEX26 | c.154C>G (p.Arg52Gly)
| dbSNP gnomAD v4 |
22 | g.18078530C>T | CA410264950 | PEX26 | c.154C>T (p.Arg52Trp)
| dbSNP gnomAD v4 |
22 | g.18078531G>A | CA10093233 | PEX26 | c.155G>A (p.Arg52Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078531G>C | CA10093232 | PEX26 | c.155G>C (p.Arg52Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078531G= | CA2395402819 | PEX26 | c.155G= (p.Arg52=)
| |
22 | g.18078531G>T | CA410264962 | PEX26 | c.155G>T (p.Arg52Leu)
| gnomAD v4 |
22 | g.18078532G>A | CA513184427 | PEX26 | c.156G>A (p.Arg52=)
| |
22 | g.18078532G>C | CA513184429 | PEX26 | c.156G>C (p.Arg52=)
| gnomAD v4 |
22 | g.18078532G>T | CA513184430 | PEX26 | c.156G>T (p.Arg52=)
| gnomAD v4 |
22 | g.18078532_18078552delinsGGCGGCGCTGGAGACCTGCGA | CA2395402820 | PEX26 | c.156_176delinsGGCGGCGCTGGAGACCTGCGA (p.Arg52=)
| |
22 | g.18078533G>A | CA410264965 | PEX26 | c.157G>A (p.Ala53Thr)
| gnomAD v4 |
22 | g.18078533G>C | CA410264968 | PEX26 | c.157G>C (p.Ala53Pro)
| |
22 | g.18078533G>T | CA410264970 | PEX26 | c.157G>T (p.Ala53Ser)
| gnomAD v4 |
22 | g.18078537_18078556del | CA2395402821 | PEX26 | c.161_180del (p.Ala54GlyfsTer?)
| dbSNP |
22 | g.18078533_18078534insACAC | CA2818335180 | PEX26 | c.157_158insACAC (p.Ala53AspfsTer?)
| |
22 | g.18078534C>A | CA410264972 | PEX26 | c.158C>A (p.Ala53Glu)
| gnomAD v4 |
22 | g.18078534C>G | CA410264976 | PEX26 | c.158C>G (p.Ala53Gly)
| gnomAD v4 |
22 | g.18078534C>T | CA410264978 | PEX26 | c.158C>T (p.Ala53Val)
| gnomAD v4 |
22 | g.18078535G>A | CA513184440 | PEX26 | c.159G>A (p.Ala53=)
| gnomAD v4 |
22 | g.18078535G>C | CA513184442 | PEX26 | c.159G>C (p.Ala53=)
| gnomAD v4 |
22 | g.18078535G>T | CA513184444 | PEX26 | c.159G>T (p.Ala53=)
| gnomAD v4 |
22 | g.18078536G>A | CA410264984 | PEX26 | c.160G>A (p.Ala54Thr)
| gnomAD v4 |
22 | g.18078536G>C | CA410264988 | PEX26 | c.160G>C (p.Ala54Pro)
| |
22 | g.18078536G>T | CA410264992 | PEX26 | c.160G>T (p.Ala54Ser)
| gnomAD v4 |
22 | g.18078537C>A | CA410265000 | PEX26 | c.161C>A (p.Ala54Glu)
| gnomAD v4 |
22 | g.18078537C>G | CA410264997 | PEX26 | c.161C>G (p.Ala54Gly)
| |
22 | g.18078537C>T | CA410264995 | PEX26 | c.161C>T (p.Ala54Val)
| gnomAD v4 |
22 | g.18078538G>A | CA513184453 | PEX26 | c.162G>A (p.Ala54=)
| gnomAD v4 |
22 | g.18078538G>C | CA513184455 | PEX26 | c.162G>C (p.Ala54=)
| gnomAD v4 |
22 | g.18078538G>T | CA513184457 | PEX26 | c.162G>T (p.Ala54=)
| ClinVar gnomAD v4 |
22 | g.18078539C>A | CA410265002 | PEX26 | c.163C>A (p.Leu55Met)
| gnomAD v4 |
22 | g.18078539C= | CA2395402822 | PEX26 | c.163C= (p.Leu55=)
| |
22 | g.18078539C>G | CA10093234 | PEX26 | c.163C>G (p.Leu55Val)
| dbSNP ExAC gnomAD v2 |
22 | g.18078539C>T | CA513184462 | PEX26 | c.163C>T (p.Leu55=)
| ClinVar gnomAD v4 |
22 | g.18078540T>A | CA410265015 | PEX26 | c.164T>A (p.Leu55Gln)
| |
22 | g.18078540T>C | CA410265021 | PEX26 | c.164T>C (p.Leu55Pro)
| gnomAD v4 |
22 | g.18078540T>G | CA410265018 | PEX26 | c.164T>G (p.Leu55Arg)
| |
22 | g.18078541G>A | CA513184471 | PEX26 | c.165G>A (p.Leu55=)
| gnomAD v4 |
22 | g.18078541G>C | CA513184469 | PEX26 | c.165G>C (p.Leu55=)
| |
22 | g.18078541G>T | CA513184468 | PEX26 | c.165G>T (p.Leu55=)
| gnomAD v4 |
22 | g.18078542del | CA2655184093 | PEX26 | c.166del (p.Glu56ArgfsTer26)
| gnomAD v4 |
22 | g.18078542G>A | CA410265026 | PEX26 | c.166G>A (p.Glu56Lys)
| |
22 | g.18078542G>C | CA410265029 | PEX26 | c.166G>C (p.Glu56Gln)
| |
22 | g.18078542G>T | CA410265031 | PEX26 | c.166G>T (p.Glu56Ter)
| gnomAD v4 |
22 | g.18078543A>C | CA410265036 | PEX26 | c.167A>C (p.Glu56Ala)
| |
22 | g.18078543A>G | CA410265039 | PEX26 | c.167A>G (p.Glu56Gly)
| gnomAD v4 |
22 | g.18078543A>T | CA410265043 | PEX26 | c.167A>T (p.Glu56Val)
| gnomAD v4 |
22 | g.18078544G>A | CA10093235 | PEX26 | c.168G>A (p.Glu56=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078544G>C | CA410265051 | PEX26 | c.168G>C (p.Glu56Asp)
| |
22 | g.18078544G= | CA2395402823 | PEX26 | c.168G= (p.Glu56=)
| |
22 | g.18078544G>T | CA410265054 | PEX26 | c.168G>T (p.Glu56Asp)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.18078545A= | CA2395402824 | PEX26 | c.169A= (p.Thr57=)
| |
22 | g.18078545A>C | CA410265057 | PEX26 | c.169A>C (p.Thr57Pro)
| |
22 | g.18078545A>G | CA10093236 | PEX26 | c.169A>G (p.Thr57Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078545A>T | CA410265061 | PEX26 | c.169A>T (p.Thr57Ser)
| |
22 | g.18078546C>A | CA410265071 | PEX26 | c.170C>A (p.Thr57Asn)
| gnomAD v4 |
22 | g.18078546C>G | CA410265066 | PEX26 | c.170C>G (p.Thr57Ser)
| gnomAD v4 |
22 | g.18078546C>T | CA410265067 | PEX26 | c.170C>T (p.Thr57Ile)
| gnomAD v4 |
22 | g.18078547C>A | CA513184490 | PEX26 | c.171C>A (p.Thr57=)
| gnomAD v4 |
22 | g.18078547C= | CA2395402825 | PEX26 | c.171C= (p.Thr57=)
| |
22 | g.18078547C>G | CA513184493 | PEX26 | c.171C>G (p.Thr57=)
| |
22 | g.18078547C>T | CA513184492 | PEX26 | c.171C>T (p.Thr57=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078548T>A | CA410265077 | PEX26 | c.172T>A (p.Cys58Ser)
| gnomAD v4 |
22 | g.18078548T>C | CA410265078 | PEX26 | c.172T>C (p.Cys58Arg)
| gnomAD v4 |
22 | g.18078548T>G | CA410265080 | PEX26 | c.172T>G (p.Cys58Gly)
| |
22 | g.18078549G>A | CA410265083 | PEX26 | c.173G>A (p.Cys58Tyr)
| gnomAD v4 |
22 | g.18078549G>C | CA410265086 | PEX26 | c.173G>C (p.Cys58Ser)
| |
22 | g.18078549G>T | CA410265089 | PEX26 | c.173G>T (p.Cys58Phe)
| gnomAD v4 |
22 | g.18078550C>A | CA410265092 | PEX26 | c.174C>A (p.Cys58Ter)
| gnomAD v4 |
22 | g.18078550C>G | CA410265094 | PEX26 | c.174C>G (p.Cys58Trp)
| ClinVar |
22 | g.18078550C>T | CA513184504 | PEX26 | c.174C>T (p.Cys58=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078551G>A | CA410265096 | PEX26 | c.175G>A (p.Glu59Lys)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078551G>C | CA410265099 | PEX26 | c.175G>C (p.Glu59Gln)
| gnomAD v4 |
22 | g.18078551G= | CA2395402826 | PEX26 | c.175G= (p.Glu59=)
| |
22 | g.18078551G>T | CA10093237 | PEX26 | c.175G>T (p.Glu59Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078552A>C | CA410265113 | PEX26 | c.176A>C (p.Glu59Ala)
| |
22 | g.18078552A>G | CA410265110 | PEX26 | c.176A>G (p.Glu59Gly)
| |
22 | g.18078552A>T | CA410265107 | PEX26 | c.176A>T (p.Glu59Val)
| |
22 | g.18078553G>A | CA10093239 | PEX26 | c.177G>A (p.Glu59=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078553G>C | CA410265119 | PEX26 | c.177G>C (p.Glu59Asp)
| gnomAD v4 |
22 | g.18078553G= | CA2395402827 | PEX26 | c.177G= (p.Glu59=)
| |
22 | g.18078553G>T | CA410265122 | PEX26 | c.177G>T (p.Glu59Asp)
| gnomAD v4 |
22 | g.18078553_18078554delinsGC | CA2395402829 | PEX26 | c.177_178delinsGC (p.Glu59=)
| |
22 | g.18078553_18078555delinsGCG | CA2395402828 | PEX26 | c.177_179delinsGCG (p.Glu59=)
| |
22 | g.18078554del | CA10093238 | PEX26 | c.178del (p.Arg60GlyfsTer22)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078554C>A | CA513184521 | PEX26 | c.178C>A (p.Arg60=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078554C= | CA2395402830 | PEX26 | c.178C= (p.Arg60=)
| |
22 | g.18078554C>G | CA410265127 | PEX26 | c.178C>G (p.Arg60Gly)
| |
22 | g.18078554C>T | CA410265130 | PEX26 | c.178C>T (p.Arg60Trp)
| gnomAD v4 |
22 | g.18078554_18078555delinsA | CA1139666952 | PEX26 | c.178_179delinsA (p.Ala61ProfsTer21)
| ClinVar dbSNP |
22 | g.18078555G>A | CA10093240 | PEX26 | c.179G>A (p.Arg60Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078555G>C | CA410265136 | PEX26 | c.179G>C (p.Arg60Pro)
| gnomAD v4 |
22 | g.18078555G= | CA2395402831 | PEX26 | c.179G= (p.Arg60=)
| |
22 | g.18078555G>T | CA410265139 | PEX26 | c.179G>T (p.Arg60Leu)
| gnomAD v4 |
22 | g.18078556G>A | CA513184533 | PEX26 | c.180G>A (p.Arg60=)
| ClinVar |
22 | g.18078556G>C | CA513184535 | PEX26 | c.180G>C (p.Arg60=)
| |
22 | g.18078556G>T | CA513184531 | PEX26 | c.180G>T (p.Arg60=)
| gnomAD v4 |
22 | g.18078557G>A | CA410265143 | PEX26 | c.181G>A (p.Ala61Thr)
| gnomAD v4 |
22 | g.18078557G>C | CA410265145 | PEX26 | c.181G>C (p.Ala61Pro)
| |
22 | g.18078557G= | CA2395402832 | PEX26 | c.181G= (p.Ala61=)
| |
22 | g.18078557G>T | CA410265149 | PEX26 | c.181G>T (p.Ala61Ser)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078558C>A | CA410265160 | PEX26 | c.182C>A (p.Ala61Asp)
| gnomAD v4 |
22 | g.18078558C>G | CA410265157 | PEX26 | c.182C>G (p.Ala61Gly)
| |
22 | g.18078558C>T | CA410265153 | PEX26 | c.182C>T (p.Ala61Val)
| gnomAD v4 |
22 | g.18078559C>A | CA513184545 | PEX26 | c.183C>A (p.Ala61=)
| gnomAD v4 |
22 | g.18078559C>G | CA513184546 | PEX26 | c.183C>G (p.Ala61=)
| gnomAD v4 |
22 | g.18078559C>T | CA513184548 | PEX26 | c.183C>T (p.Ala61=)
| ClinVar |
22 | g.18078559_18078584delinsCTGGCAGAGTCTGGCCAACCACGCCG | CA2395402833 | PEX26 | c.183_208delinsCTGGCAGAGTCTGGCCAACCACGCCG (p.Ala61=)
| |
22 | g.18078560T>A | CA410265163 | PEX26 | c.184T>A (p.Trp62Arg)
| gnomAD v4 |
22 | g.18078560T>C | CA410265167 | PEX26 | c.184T>C (p.Trp62Arg)
| gnomAD v4 |
22 | g.18078560T>G | CA410265169 | PEX26 | c.184T>G (p.Trp62Gly)
| |
22 | g.18078568_18078592del | CA321284536 | PEX26 | c.192_216del (p.Ser64ArgfsTer10)
| ClinVar dbSNP |
22 | g.18078561G>A | CA410265173 | PEX26 | c.185G>A (p.Trp62Ter)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078561G>C | CA410265180 | PEX26 | c.185G>C (p.Trp62Ser)
| |
22 | g.18078561G= | CA2395402834 | PEX26 | c.185G= (p.Trp62=)
| |
22 | g.18078561G>T | CA410265183 | PEX26 | c.185G>T (p.Trp62Leu)
| gnomAD v4 |
22 | g.18078562G>A | CA410265188 | PEX26 | c.186G>A (p.Trp62Ter)
| dbSNP gnomAD v4 |
22 | g.18078562G>C | CA410265191 | PEX26 | c.186G>C (p.Trp62Cys)
| |
22 | g.18078562G= | CA2395402835 | PEX26 | c.186G= (p.Trp62=)
| |
22 | g.18078562G>T | CA410265195 | PEX26 | c.186G>T (p.Trp62Cys)
| gnomAD v4 |
22 | g.18078563C>A | CA410265198 | PEX26 | c.187C>A (p.Gln63Lys)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078563C= | CA2395402836 | PEX26 | c.187C= (p.Gln63=)
| |
22 | g.18078563C>G | CA10093241 | PEX26 | c.187C>G (p.Gln63Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078563C>T | CA410265203 | PEX26 | c.187C>T (p.Gln63Ter)
| gnomAD v4 |