Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18078463G>ACA10093218PEX26c.87G>A (p.Pro29=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078463G>CCA513184876PEX26c.87G>C (p.Pro29=)
ClinVar
22g.18078463G=CA2395402776PEX26c.87G= (p.Pro29=)
22g.18078463G>TCA513184873PEX26c.87G>T (p.Pro29=)
ClinVar
22g.18078464G>ACA410264452PEX26c.88G>A (p.Ala30Thr)
dbSNP gnomAD v2
22g.18078464G>CCA410264455PEX26c.88G>C (p.Ala30Pro)
gnomAD v4
22g.18078464G=CA2395402777PEX26c.88G= (p.Ala30=)
22g.18078464G>TCA410264459PEX26c.88G>T (p.Ala30Ser)
gnomAD v4
22g.18078465C>ACA410264461PEX26c.89C>A (p.Ala30Asp)
22g.18078465C=CA2395402778PEX26c.89C= (p.Ala30=)
22g.18078465C>GCA410264464PEX26c.89C>G (p.Ala30Gly)
22g.18078465C>TCA10093219PEX26c.89C>T (p.Ala30Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078466C>ACA513184889PEX26c.90C>A (p.Ala30=)
gnomAD v4
22g.18078466C>GCA513184887PEX26c.90C>G (p.Ala30=)
22g.18078466C>TCA513184885PEX26c.90C>T (p.Ala30=)
ClinVar gnomAD v4
22g.18078467C>ACA513184892PEX26c.91C>A (p.Arg31=)
gnomAD v4
22g.18078467C=CA2395402779PEX26c.91C= (p.Arg31=)
22g.18078467C>GCA410264469PEX26c.91C>G (p.Arg31Gly)
dbSNP
22g.18078467C>TCA10093220PEX26c.91C>T (p.Arg31Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078468G>ACA410264476PEX26c.92G>A (p.Arg31Gln)
ClinVar dbSNP gnomAD v4
22g.18078468G>CCA410264480PEX26c.92G>C (p.Arg31Pro)
22g.18078468G=CA2395402780PEX26c.92G= (p.Arg31=)
22g.18078468G>TCA410264483PEX26c.92G>T (p.Arg31Leu)
gnomAD v4
22g.18078470delCA2655183885PEX26c.94del (p.Ala32ArgfsTer?)
gnomAD v4
22g.18078469G>ACA513184901PEX26c.93G>A (p.Arg31=)
gnomAD v4
22g.18078469G>CCA513184904PEX26c.93G>C (p.Arg31=)
22g.18078469G>TCA513184902PEX26c.93G>T (p.Arg31=)
22g.18078470G>ACA410264487PEX26c.94G>A (p.Ala32Thr)
gnomAD v4
22g.18078470G>CCA410264490PEX26c.94G>C (p.Ala32Pro)
22g.18078470G>TCA410264493PEX26c.94G>T (p.Ala32Ser)
22g.18078471C>ACA410264496PEX26c.95C>A (p.Ala32Glu)
gnomAD v4
22g.18078471C>GCA410264502PEX26c.95C>G (p.Ala32Gly)
22g.18078471C>TCA410264500PEX26c.95C>T (p.Ala32Val)
gnomAD v4
22g.18078472G>ACA513184912PEX26c.96G>A (p.Ala32=)
gnomAD v4
22g.18078472G>CCA513184913PEX26c.96G>C (p.Ala32=)
dbSNP gnomAD v2 gnomAD v4
22g.18078472G=CA2395402781PEX26c.96G= (p.Ala32=)
22g.18078472G>TCA513184914PEX26c.96G>T (p.Ala32=)
ClinVar gnomAD v4
22g.18078473C>ACA410264506PEX26c.97C>A (p.Pro33Thr)
22g.18078473C=CA2395402782PEX26c.97C= (p.Pro33=)
22g.18078473C>GCA410264509PEX26c.97C>G (p.Pro33Ala)
22g.18078473C>TCA410264512PEX26c.97C>T (p.Pro33Ser)
dbSNP gnomAD v2 gnomAD v4
22g.18078474C>ACA410264516PEX26c.98C>A (p.Pro33Gln)
22g.18078474C=CA2395402783PEX26c.98C= (p.Pro33=)
22g.18078474C>GCA10093222PEX26c.98C>G (p.Pro33Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078474C>TCA10093221PEX26c.98C>T (p.Pro33Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078475G>ACA513184924PEX26c.99G>A (p.Pro33=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078475G>CCA513184925PEX26c.99G>C (p.Pro33=)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18078475G=CA2395402784PEX26c.99G= (p.Pro33=)
22g.18078475G>TCA513184927PEX26c.99G>T (p.Pro33=)
gnomAD v4
22g.18078476G>ACA10093223PEX26c.100G>A (p.Ala34Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078476G>CCA410264527PEX26c.100G>C (p.Ala34Pro)
22g.18078476G=CA2395402785PEX26c.100G= (p.Ala34=)
22g.18078476G>TCA410264530PEX26c.100G>T (p.Ala34Ser)
dbSNP gnomAD v4
22g.18078477C>ACA410264536PEX26c.101C>A (p.Ala34Asp)
22g.18078477C>GCA410264539PEX26c.101C>G (p.Ala34Gly)
22g.18078477C>TCA410264543PEX26c.101C>T (p.Ala34Val)
gnomAD v4
22g.18078478C>ACA513184936PEX26c.102C>A (p.Ala34=)
22g.18078478C=CA2395402786PEX26c.102C= (p.Ala34=)
22g.18078478C>GCA513184938PEX26c.102C>G (p.Ala34=)
ClinVar dbSNP gnomAD v4
22g.18078478C>TCA513184939PEX26c.102C>T (p.Ala34=)
dbSNP gnomAD v2
22g.18078479G>ACA10093224PEX26c.103G>A (p.Val35Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078479G>CCA410264550PEX26c.103G>C (p.Val35Leu)
22g.18078479G=CA2395402787PEX26c.103G= (p.Val35=)
22g.18078479G>TCA410264545PEX26c.103G>T (p.Val35Leu)
gnomAD v4
22g.18078480T>ACA410264559PEX26c.104T>A (p.Val35Glu)
22g.18078480T>CCA410264563PEX26c.104T>C (p.Val35Ala)
22g.18078480T>GCA410264561PEX26c.104T>G (p.Val35Gly)
22g.18078481G>ACA321284390PEX26c.105G>A (p.Val35=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078481G>CCA513184950PEX26c.105G>C (p.Val35=)
22g.18078481G=CA2395402788PEX26c.105G= (p.Val35=)
22g.18078481G>TCA513184952PEX26c.105G>T (p.Val35=)
gnomAD v4
22g.18078482G>ACA410264566PEX26c.106G>A (p.Asp36Asn)
22g.18078482G>CCA410264567PEX26c.106G>C (p.Asp36His)
22g.18078482G>TCA410264570PEX26c.106G>T (p.Asp36Tyr)
gnomAD v4
22g.18078483A=CA2395402789PEX26c.107A= (p.Asp36=)
22g.18078483A>CCA410264572PEX26c.107A>C (p.Asp36Ala)
22g.18078483A>GCA410264574PEX26c.107A>G (p.Asp36Gly)
ClinVar dbSNP gnomAD v4
22g.18078483A>TCA410264576PEX26c.107A>T (p.Asp36Val)
22g.18078484C>ACA410264579PEX26c.108C>A (p.Asp36Glu)
dbSNP gnomAD v2
22g.18078484C=CA2395402790PEX26c.108C= (p.Asp36=)
22g.18078484C>GCA410264581PEX26c.108C>G (p.Asp36Glu)
22g.18078484C>TCA513184962PEX26c.108C>T (p.Asp36=)
gnomAD v4
22g.18078485C>ACA410264586PEX26c.109C>A (p.Leu37Ile)
22g.18078485C=CA2395402791PEX26c.109C= (p.Leu37=)
22g.18078485C>GCA410264589PEX26c.109C>G (p.Leu37Val)
22g.18078485C>TCA410264592PEX26c.109C>T (p.Leu37Phe)
ClinVar dbSNP COSMIC
22g.18078486T>ACA410264597PEX26c.110T>A (p.Leu37His)
22g.18078486T>CCA410264600PEX26c.110T>C (p.Leu37Pro)
22g.18078486T>GCA410264605PEX26c.110T>G (p.Leu37Arg)
ClinVar
22g.18078487T>ACA513184972PEX26c.111T>A (p.Leu37=)
22g.18078487T>CCA513184974PEX26c.111T>C (p.Leu37=)
22g.18078487T>GCA513184975PEX26c.111T>G (p.Leu37=)
ClinVar
22g.18078488C>ACA410264613PEX26c.112C>A (p.Leu38Met)
dbSNP gnomAD v2 gnomAD v4
22g.18078488C=CA2395402792PEX26c.112C= (p.Leu38=)
22g.18078488C>GCA410264609PEX26c.112C>G (p.Leu38Val)
22g.18078488C>TCA513184980PEX26c.112C>T (p.Leu38=)
ClinVar dbSNP gnomAD v2
22g.18078489T>ACA410264619PEX26c.113T>A (p.Leu38Gln)
22g.18078489T>CCA410264622PEX26c.113T>C (p.Leu38Pro)
gnomAD v4
22g.18078489T>GCA410264625PEX26c.113T>G (p.Leu38Arg)
22g.18078490G>ACA513184983PEX26c.114G>A (p.Leu38=)
22g.18078490G>CCA513184987PEX26c.114G>C (p.Leu38=)
22g.18078490G>TCA513184985PEX26c.114G>T (p.Leu38=)
gnomAD v4
22g.18078491G>ACA410264628PEX26c.115G>A (p.Glu39Lys)
22g.18078491G>CCA410264630PEX26c.115G>C (p.Glu39Gln)
22g.18078491G>TCA410264634PEX26c.115G>T (p.Glu39Ter)
gnomAD v4
22g.18078492A=CA2395402793PEX26c.116A= (p.Glu39=)
22g.18078492A>CCA410264654PEX26c.116A>C (p.Glu39Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078492A>GCA10093225PEX26c.116A>G (p.Glu39Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078492A>TCA410264650PEX26c.116A>T (p.Glu39Val)
22g.18078493G>ACA513184994PEX26c.117G>A (p.Glu39=)
dbSNP gnomAD v3 gnomAD v4
22g.18078493G>CCA410264661PEX26c.117G>C (p.Glu39Asp)
22g.18078493G=CA2395402794PEX26c.117G= (p.Glu39=)
22g.18078493G>TCA410264663PEX26c.117G>T (p.Glu39Asp)
gnomAD v4
22g.18078494G>ACA410264668PEX26c.118G>A (p.Glu40Lys)
22g.18078494G>CCA410264671PEX26c.118G>C (p.Glu40Gln)
22g.18078494G>TCA410264674PEX26c.118G>T (p.Glu40Ter)
gnomAD v4
22g.18078495A=CA2395402795PEX26c.119A= (p.Glu40=)
22g.18078495A>CCA410264684PEX26c.119A>C (p.Glu40Ala)
ClinVar dbSNP gnomAD v4
22g.18078495A>GCA410264678PEX26c.119A>G (p.Glu40Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078495A>TCA410264680PEX26c.119A>T (p.Glu40Val)
22g.18078496G>ACA513185004PEX26c.120G>A (p.Glu40=)
22g.18078496G>CCA321284395PEX26c.120G>C (p.Glu40Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078496G=CA2395402796PEX26c.120G= (p.Glu40=)
22g.18078496G>TCA410264687PEX26c.120G>T (p.Glu40Asp)
gnomAD v4
22g.18078497delCA2818335173PEX26c.121del (p.Ala41ArgfsTer?)
22g.18078497G>ACA410264690PEX26c.121G>A (p.Ala41Thr)
ClinVar
22g.18078497G>CCA410264691PEX26c.121G>C (p.Ala41Pro)
22g.18078497G>TCA410264696PEX26c.121G>T (p.Ala41Ser)
22g.18078498C>ACA410264708PEX26c.122C>A (p.Ala41Glu)
22g.18078498C=CA2395402797PEX26c.122C= (p.Ala41=)
22g.18078498C>GCA410264705PEX26c.122C>G (p.Ala41Gly)
dbSNP
22g.18078498C>TCA410264701PEX26c.122C>T (p.Ala41Val)
ClinVar dbSNP gnomAD v4
22g.18078499G>ACA513185018PEX26c.123G>A (p.Ala41=)
dbSNP gnomAD v2 gnomAD v4
22g.18078499G>CCA513185015PEX26c.123G>C (p.Ala41=)
22g.18078499G=CA2395402798PEX26c.123G= (p.Ala41=)
22g.18078499G>TCA513185016PEX26c.123G>T (p.Ala41=)
22g.18078500G>ACA410264713PEX26c.124G>A (p.Ala42Thr)
dbSNP gnomAD v2 gnomAD v4
22g.18078500G>CCA410264714PEX26c.124G>C (p.Ala42Pro)
22g.18078500G=CA2395402799PEX26c.124G= (p.Ala42=)
22g.18078500G>TCA410264716PEX26c.124G>T (p.Ala42Ser)
gnomAD v4
22g.18078501C>ACA410264721PEX26c.125C>A (p.Ala42Asp)
22g.18078501C>GCA410264723PEX26c.125C>G (p.Ala42Gly)
dbSNP
22g.18078501C>TCA410264729PEX26c.125C>T (p.Ala42Val)
gnomAD v4
22g.18078502C>ACA513185023PEX26c.126C>A (p.Ala42=)
22g.18078502C>GCA513185025PEX26c.126C>G (p.Ala42=)
22g.18078502C>TCA513185031PEX26c.126C>T (p.Ala42=)
ClinVar
22g.18078503G>ACA410264732PEX26c.127G>A (p.Asp43Asn)
22g.18078503G>CCA410264738PEX26c.127G>C (p.Asp43His)
22g.18078503G>TCA410264735PEX26c.127G>T (p.Asp43Tyr)
gnomAD v4
22g.18078504A>CCA410264740PEX26c.128A>C (p.Asp43Ala)
22g.18078504A>GCA410264744PEX26c.128A>G (p.Asp43Gly)
22g.18078504A>TCA410264748PEX26c.128A>T (p.Asp43Val)
22g.18078504_18078507delinsACCTCA2395402800PEX26c.128_131delinsACCT (p.Asp43=)
22g.18078505C>ACA410264752PEX26c.129C>A (p.Asp43Glu)
22g.18078505C>GCA410264757PEX26c.129C>G (p.Asp43Glu)
22g.18078505C>TCA513185041PEX26c.129C>T (p.Asp43=)
ClinVar
22g.18078508_18078510delCA916083782PEX26c.132_134del (p.Leu45del)
ClinVar dbSNP
22g.18078506C>ACA410264762PEX26c.130C>A (p.Leu44Ile)
gnomAD v4
22g.18078506C=CA2395402801PEX26c.130C= (p.Leu44=)
22g.18078506C>GCA410264765PEX26c.130C>G (p.Leu44Val)
22g.18078506C>TCA201672PEX26c.130C>T (p.Leu44Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078507T>ACA410264772PEX26c.131T>A (p.Leu44His)
dbSNP gnomAD v2 gnomAD v4
22g.18078507T>CCA10093226PEX26c.131T>C (p.Leu44Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078507T>GCA410264777PEX26c.131T>G (p.Leu44Arg)
22g.18078507T=CA2395402802PEX26c.131T= (p.Leu44=)
22g.18078508C>ACA513185052PEX26c.132C>A (p.Leu44=)
gnomAD v4
22g.18078508C=CA2395402804PEX26c.132C= (p.Leu44=)
22g.18078508C>GCA513185054PEX26c.132C>G (p.Leu44=)
ClinVar dbSNP
22g.18078508C>TCA513185056PEX26c.132C>T (p.Leu44=)
dbSNP gnomAD v3 gnomAD v4
22g.18078508_18078511delinsCCTGCA2395402803PEX26c.132_135delinsCCTG (p.Leu44=)
22g.18078509C>ACA410264781PEX26c.133C>A (p.Leu45Met)
22g.18078509C=CA2395402805PEX26c.133C= (p.Leu45=)
22g.18078509C>GCA410264785PEX26c.133C>G (p.Leu45Val)
22g.18078509C>TCA513185059PEX26c.133C>T (p.Leu45=)
ClinVar dbSNP gnomAD v4
22g.18078509_18078511delCA10093227PEX26c.133_135del (p.Leu45del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078509_18078512delinsCTGGCA2395402806PEX26c.133_136delinsCTGG (p.Leu45=)
22g.18078510T>ACA410264790PEX26c.134T>A (p.Leu45Gln)
22g.18078510T>CCA115374PEX26c.134T>C (p.Leu45Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078510T>GCA410264794PEX26c.134T>G (p.Leu45Arg)
22g.18078510T=CA2395402808PEX26c.134T= (p.Leu45=)
22g.18078515_18078517delCA2395402807PEX26c.139_141del (p.Val47del)
dbSNP
22g.18078511G>ACA513185063PEX26c.135G>A (p.Leu45=)
gnomAD v4
22g.18078511G>CCA513185064PEX26c.135G>C (p.Leu45=)
22g.18078511G>TCA513185065PEX26c.135G>T (p.Leu45=)
gnomAD v4
22g.18078512G>ACA10093228PEX26c.136G>A (p.Val46Met)
dbSNP ExAC gnomAD v4
22g.18078512G>CCA410264805PEX26c.136G>C (p.Val46Leu)
22g.18078512G=CA2395402809PEX26c.136G= (p.Val46=)
22g.18078512G>TCA410264808PEX26c.136G>T (p.Val46Leu)
gnomAD v4
22g.18078513T>ACA410264811PEX26c.137T>A (p.Val46Glu)
22g.18078513T>CCA410264812PEX26c.137T>C (p.Val46Ala)
22g.18078513T>GCA410264813PEX26c.137T>G (p.Val46Gly)
22g.18078514G>ACA513185066PEX26c.138G>A (p.Val46=)
22g.18078514G>CCA513185067PEX26c.138G>C (p.Val46=)
22g.18078514G>TCA513185068PEX26c.138G>T (p.Val46=)
gnomAD v4
22g.18078515G>ACA410264815PEX26c.139G>A (p.Val47Met)
gnomAD v4
22g.18078515G>CCA410264817PEX26c.139G>C (p.Val47Leu)
dbSNP gnomAD v4
22g.18078515G=CA2395402810PEX26c.139G= (p.Val47=)
22g.18078515G>TCA410264827PEX26c.139G>T (p.Val47Leu)
gnomAD v4
22g.18078516T>ACA410264832PEX26c.140T>A (p.Val47Glu)
22g.18078516T>CCA410264836PEX26c.140T>C (p.Val47Ala)
22g.18078516T>GCA410264838PEX26c.140T>G (p.Val47Gly)
22g.18078517G>ACA513185069PEX26c.141G>A (p.Val47=)
gnomAD v4
22g.18078517G>CCA513185070PEX26c.141G>C (p.Val47=)
ClinVar gnomAD v4
22g.18078517G>TCA513185071PEX26c.141G>T (p.Val47=)
gnomAD v4
22g.18078518C>ACA410264849PEX26c.142C>A (p.His48Asn)
gnomAD v4
22g.18078518C=CA2395402811PEX26c.142C= (p.His48=)
22g.18078518C>GCA410264843PEX26c.142C>G (p.His48Asp)
22g.18078518C>TCA10093229PEX26c.142C>T (p.His48Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078519A>CCA410264855PEX26c.143A>C (p.His48Pro)
22g.18078519A>GCA410264857PEX26c.143A>G (p.His48Arg)
22g.18078519A>TCA410264860PEX26c.143A>T (p.His48Leu)
22g.18078520C>ACA410264864PEX26c.144C>A (p.His48Gln)
22g.18078520C>GCA410264866PEX26c.144C>G (p.His48Gln)
22g.18078520C>TCA513185072PEX26c.144C>T (p.His48=)
gnomAD v4
22g.18078521C>ACA410264870PEX26c.145C>A (p.Leu49Met)
gnomAD v4
22g.18078521C=CA2395402812PEX26c.145C= (p.Leu49=)
22g.18078521C>GCA410264873PEX26c.145C>G (p.Leu49Val)
ClinVar
22g.18078521C>TCA513185073PEX26c.145C>T (p.Leu49=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078522T>ACA410264876PEX26c.146T>A (p.Leu49Gln)
22g.18078522T>CCA410264877PEX26c.146T>C (p.Leu49Pro)
gnomAD v4
22g.18078522T>GCA410264880PEX26c.146T>G (p.Leu49Arg)
22g.18078523G>ACA513184384PEX26c.147G>A (p.Leu49=)
gnomAD v4
22g.18078523G>CCA513184386PEX26c.147G>C (p.Leu49=)
22g.18078523G>TCA513184388PEX26c.147G>T (p.Leu49=)
gnomAD v4
22g.18078524G>ACA410264893PEX26c.148G>A (p.Asp50Asn)
gnomAD v4
22g.18078524G>CCA410264888PEX26c.148G>C (p.Asp50His)
ClinVar dbSNP
22g.18078524G=CA2395402813PEX26c.148G= (p.Asp50=)
22g.18078524G>TCA410264885PEX26c.148G>T (p.Asp50Tyr)
gnomAD v4
22g.18078525A>CCA410264898PEX26c.149A>C (p.Asp50Ala)
22g.18078525A>GCA410264901PEX26c.149A>G (p.Asp50Gly)
gnomAD v4
22g.18078525A>TCA410264904PEX26c.149A>T (p.Asp50Val)
22g.18078526C>ACA410264908PEX26c.150C>A (p.Asp50Glu)
22g.18078526C=CA2395402814PEX26c.150C= (p.Asp50=)
22g.18078526C>GCA410264912PEX26c.150C>G (p.Asp50Glu)
dbSNP
22g.18078526C>TCA513184402PEX26c.150C>T (p.Asp50=)
ClinVar dbSNP
22g.18078527T>ACA410264924PEX26c.151T>A (p.Phe51Ile)
22g.18078527T>CCA410264927PEX26c.151T>C (p.Phe51Leu)
22g.18078527T>GCA410264929PEX26c.151T>G (p.Phe51Val)
gnomAD v4
22g.18078528T>ACA10093230PEX26c.152T>A (p.Phe51Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078528T>CCA410264936PEX26c.152T>C (p.Phe51Ser)
gnomAD v4
22g.18078528T>GCA410264939PEX26c.152T>G (p.Phe51Cys)
22g.18078528T=CA2395402815PEX26c.152T= (p.Phe51=)
22g.18078528_18078529delinsTCCA2395402816PEX26c.152_153delinsTC (p.Phe51=)
22g.18078529C>ACA10093231PEX26c.153C>A (p.Phe51Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078529C=CA2395402817PEX26c.153C= (p.Phe51=)
22g.18078529C>GCA410264947PEX26c.153C>G (p.Phe51Leu)
22g.18078529C>TCA513184416PEX26c.153C>T (p.Phe51=)
gnomAD v4
22g.18078530delCA638502299PEX26c.154del (p.Arg52GlyfsTer30)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078530C>ACA513184419PEX26c.154C>A (p.Arg52=)
dbSNP gnomAD v2
22g.18078530C=CA2395402818PEX26c.154C= (p.Arg52=)
22g.18078530C>GCA410264953PEX26c.154C>G (p.Arg52Gly)
dbSNP gnomAD v4
22g.18078530C>TCA410264950PEX26c.154C>T (p.Arg52Trp)
dbSNP gnomAD v4
22g.18078531G>ACA10093233PEX26c.155G>A (p.Arg52Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078531G>CCA10093232PEX26c.155G>C (p.Arg52Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078531G=CA2395402819PEX26c.155G= (p.Arg52=)
22g.18078531G>TCA410264962PEX26c.155G>T (p.Arg52Leu)
gnomAD v4
22g.18078532G>ACA513184427PEX26c.156G>A (p.Arg52=)
22g.18078532G>CCA513184429PEX26c.156G>C (p.Arg52=)
gnomAD v4
22g.18078532G>TCA513184430PEX26c.156G>T (p.Arg52=)
gnomAD v4
22g.18078532_18078552delinsGGCGGCGCTGGAGACCTGCGACA2395402820PEX26c.156_176delinsGGCGGCGCTGGAGACCTGCGA (p.Arg52=)
22g.18078533G>ACA410264965PEX26c.157G>A (p.Ala53Thr)
gnomAD v4
22g.18078533G>CCA410264968PEX26c.157G>C (p.Ala53Pro)
22g.18078533G>TCA410264970PEX26c.157G>T (p.Ala53Ser)
gnomAD v4
22g.18078537_18078556delCA2395402821PEX26c.161_180del (p.Ala54GlyfsTer?)
dbSNP
22g.18078533_18078534insACACCA2818335180PEX26c.157_158insACAC (p.Ala53AspfsTer?)
22g.18078534C>ACA410264972PEX26c.158C>A (p.Ala53Glu)
gnomAD v4
22g.18078534C>GCA410264976PEX26c.158C>G (p.Ala53Gly)
gnomAD v4
22g.18078534C>TCA410264978PEX26c.158C>T (p.Ala53Val)
gnomAD v4
22g.18078535G>ACA513184440PEX26c.159G>A (p.Ala53=)
gnomAD v4
22g.18078535G>CCA513184442PEX26c.159G>C (p.Ala53=)
gnomAD v4
22g.18078535G>TCA513184444PEX26c.159G>T (p.Ala53=)
gnomAD v4
22g.18078536G>ACA410264984PEX26c.160G>A (p.Ala54Thr)
gnomAD v4
22g.18078536G>CCA410264988PEX26c.160G>C (p.Ala54Pro)
22g.18078536G>TCA410264992PEX26c.160G>T (p.Ala54Ser)
gnomAD v4
22g.18078537C>ACA410265000PEX26c.161C>A (p.Ala54Glu)
gnomAD v4
22g.18078537C>GCA410264997PEX26c.161C>G (p.Ala54Gly)
22g.18078537C>TCA410264995PEX26c.161C>T (p.Ala54Val)
gnomAD v4
22g.18078538G>ACA513184453PEX26c.162G>A (p.Ala54=)
gnomAD v4
22g.18078538G>CCA513184455PEX26c.162G>C (p.Ala54=)
gnomAD v4
22g.18078538G>TCA513184457PEX26c.162G>T (p.Ala54=)
ClinVar gnomAD v4
22g.18078539C>ACA410265002PEX26c.163C>A (p.Leu55Met)
gnomAD v4
22g.18078539C=CA2395402822PEX26c.163C= (p.Leu55=)
22g.18078539C>GCA10093234PEX26c.163C>G (p.Leu55Val)
dbSNP ExAC gnomAD v2
22g.18078539C>TCA513184462PEX26c.163C>T (p.Leu55=)
ClinVar gnomAD v4
22g.18078540T>ACA410265015PEX26c.164T>A (p.Leu55Gln)
22g.18078540T>CCA410265021PEX26c.164T>C (p.Leu55Pro)
gnomAD v4
22g.18078540T>GCA410265018PEX26c.164T>G (p.Leu55Arg)
22g.18078541G>ACA513184471PEX26c.165G>A (p.Leu55=)
gnomAD v4
22g.18078541G>CCA513184469PEX26c.165G>C (p.Leu55=)
22g.18078541G>TCA513184468PEX26c.165G>T (p.Leu55=)
gnomAD v4
22g.18078542delCA2655184093PEX26c.166del (p.Glu56ArgfsTer26)
gnomAD v4
22g.18078542G>ACA410265026PEX26c.166G>A (p.Glu56Lys)
22g.18078542G>CCA410265029PEX26c.166G>C (p.Glu56Gln)
22g.18078542G>TCA410265031PEX26c.166G>T (p.Glu56Ter)
gnomAD v4
22g.18078543A>CCA410265036PEX26c.167A>C (p.Glu56Ala)
22g.18078543A>GCA410265039PEX26c.167A>G (p.Glu56Gly)
gnomAD v4
22g.18078543A>TCA410265043PEX26c.167A>T (p.Glu56Val)
gnomAD v4
22g.18078544G>ACA10093235PEX26c.168G>A (p.Glu56=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078544G>CCA410265051PEX26c.168G>C (p.Glu56Asp)
22g.18078544G=CA2395402823PEX26c.168G= (p.Glu56=)
22g.18078544G>TCA410265054PEX26c.168G>T (p.Glu56Asp)
dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.18078545A=CA2395402824PEX26c.169A= (p.Thr57=)
22g.18078545A>CCA410265057PEX26c.169A>C (p.Thr57Pro)
22g.18078545A>GCA10093236PEX26c.169A>G (p.Thr57Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078545A>TCA410265061PEX26c.169A>T (p.Thr57Ser)
22g.18078546C>ACA410265071PEX26c.170C>A (p.Thr57Asn)
gnomAD v4
22g.18078546C>GCA410265066PEX26c.170C>G (p.Thr57Ser)
gnomAD v4
22g.18078546C>TCA410265067PEX26c.170C>T (p.Thr57Ile)
gnomAD v4
22g.18078547C>ACA513184490PEX26c.171C>A (p.Thr57=)
gnomAD v4
22g.18078547C=CA2395402825PEX26c.171C= (p.Thr57=)
22g.18078547C>GCA513184493PEX26c.171C>G (p.Thr57=)
22g.18078547C>TCA513184492PEX26c.171C>T (p.Thr57=)
dbSNP gnomAD v2 gnomAD v4
22g.18078548T>ACA410265077PEX26c.172T>A (p.Cys58Ser)
gnomAD v4
22g.18078548T>CCA410265078PEX26c.172T>C (p.Cys58Arg)
gnomAD v4
22g.18078548T>GCA410265080PEX26c.172T>G (p.Cys58Gly)
22g.18078549G>ACA410265083PEX26c.173G>A (p.Cys58Tyr)
gnomAD v4
22g.18078549G>CCA410265086PEX26c.173G>C (p.Cys58Ser)
22g.18078549G>TCA410265089PEX26c.173G>T (p.Cys58Phe)
gnomAD v4
22g.18078550C>ACA410265092PEX26c.174C>A (p.Cys58Ter)
gnomAD v4
22g.18078550C>GCA410265094PEX26c.174C>G (p.Cys58Trp)
ClinVar
22g.18078550C>TCA513184504PEX26c.174C>T (p.Cys58=)
ClinVar dbSNP gnomAD v4
22g.18078551G>ACA410265096PEX26c.175G>A (p.Glu59Lys)
ClinVar dbSNP gnomAD v4
22g.18078551G>CCA410265099PEX26c.175G>C (p.Glu59Gln)
gnomAD v4
22g.18078551G=CA2395402826PEX26c.175G= (p.Glu59=)
22g.18078551G>TCA10093237PEX26c.175G>T (p.Glu59Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.18078552A>CCA410265113PEX26c.176A>C (p.Glu59Ala)
22g.18078552A>GCA410265110PEX26c.176A>G (p.Glu59Gly)
22g.18078552A>TCA410265107PEX26c.176A>T (p.Glu59Val)
22g.18078553G>ACA10093239PEX26c.177G>A (p.Glu59=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078553G>CCA410265119PEX26c.177G>C (p.Glu59Asp)
gnomAD v4
22g.18078553G=CA2395402827PEX26c.177G= (p.Glu59=)
22g.18078553G>TCA410265122PEX26c.177G>T (p.Glu59Asp)
gnomAD v4
22g.18078553_18078554delinsGCCA2395402829PEX26c.177_178delinsGC (p.Glu59=)
22g.18078553_18078555delinsGCGCA2395402828PEX26c.177_179delinsGCG (p.Glu59=)
22g.18078554delCA10093238PEX26c.178del (p.Arg60GlyfsTer22)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078554C>ACA513184521PEX26c.178C>A (p.Arg60=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078554C=CA2395402830PEX26c.178C= (p.Arg60=)
22g.18078554C>GCA410265127PEX26c.178C>G (p.Arg60Gly)
22g.18078554C>TCA410265130PEX26c.178C>T (p.Arg60Trp)
gnomAD v4
22g.18078554_18078555delinsACA1139666952PEX26c.178_179delinsA (p.Ala61ProfsTer21)
ClinVar dbSNP
22g.18078555G>ACA10093240PEX26c.179G>A (p.Arg60Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.18078555G>CCA410265136PEX26c.179G>C (p.Arg60Pro)
gnomAD v4
22g.18078555G=CA2395402831PEX26c.179G= (p.Arg60=)
22g.18078555G>TCA410265139PEX26c.179G>T (p.Arg60Leu)
gnomAD v4
22g.18078556G>ACA513184533PEX26c.180G>A (p.Arg60=)
ClinVar
22g.18078556G>CCA513184535PEX26c.180G>C (p.Arg60=)
22g.18078556G>TCA513184531PEX26c.180G>T (p.Arg60=)
gnomAD v4
22g.18078557G>ACA410265143PEX26c.181G>A (p.Ala61Thr)
gnomAD v4
22g.18078557G>CCA410265145PEX26c.181G>C (p.Ala61Pro)
22g.18078557G=CA2395402832PEX26c.181G= (p.Ala61=)
22g.18078557G>TCA410265149PEX26c.181G>T (p.Ala61Ser)
dbSNP gnomAD v2 gnomAD v4
22g.18078558C>ACA410265160PEX26c.182C>A (p.Ala61Asp)
gnomAD v4
22g.18078558C>GCA410265157PEX26c.182C>G (p.Ala61Gly)
22g.18078558C>TCA410265153PEX26c.182C>T (p.Ala61Val)
gnomAD v4
22g.18078559C>ACA513184545PEX26c.183C>A (p.Ala61=)
gnomAD v4
22g.18078559C>GCA513184546PEX26c.183C>G (p.Ala61=)
gnomAD v4
22g.18078559C>TCA513184548PEX26c.183C>T (p.Ala61=)
ClinVar
22g.18078559_18078584delinsCTGGCAGAGTCTGGCCAACCACGCCGCA2395402833PEX26c.183_208delinsCTGGCAGAGTCTGGCCAACCACGCCG (p.Ala61=)
22g.18078560T>ACA410265163PEX26c.184T>A (p.Trp62Arg)
gnomAD v4
22g.18078560T>CCA410265167PEX26c.184T>C (p.Trp62Arg)
gnomAD v4
22g.18078560T>GCA410265169PEX26c.184T>G (p.Trp62Gly)
22g.18078568_18078592delCA321284536PEX26c.192_216del (p.Ser64ArgfsTer10)
ClinVar dbSNP
22g.18078561G>ACA410265173PEX26c.185G>A (p.Trp62Ter)
ClinVar dbSNP gnomAD v4
22g.18078561G>CCA410265180PEX26c.185G>C (p.Trp62Ser)
22g.18078561G=CA2395402834PEX26c.185G= (p.Trp62=)
22g.18078561G>TCA410265183PEX26c.185G>T (p.Trp62Leu)
gnomAD v4
22g.18078562G>ACA410265188PEX26c.186G>A (p.Trp62Ter)
dbSNP gnomAD v4
22g.18078562G>CCA410265191PEX26c.186G>C (p.Trp62Cys)
22g.18078562G=CA2395402835PEX26c.186G= (p.Trp62=)
22g.18078562G>TCA410265195PEX26c.186G>T (p.Trp62Cys)
gnomAD v4
22g.18078563C>ACA410265198PEX26c.187C>A (p.Gln63Lys)
dbSNP gnomAD v2 gnomAD v4
22g.18078563C=CA2395402836PEX26c.187C= (p.Gln63=)
22g.18078563C>GCA10093241PEX26c.187C>G (p.Gln63Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078563C>TCA410265203PEX26c.187C>T (p.Gln63Ter)
gnomAD v4

Number of alleles fetched