Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.179833588_179833783delCA340742SQSTM1c.971_1165+1del
c.719_913+1del
c.950+361_950+556del (n.950+361_950+556del)
5g.179833651_179833653delCA3600783SQSTM1c.1034_1036del (p.Glu345del)
c.782_784del (p.Glu261del)
c.950+424_950+426del (n.950+424_950+426del)
dbSNP ExAC gnomAD v2
5g.179833651A>CCA362452555SQSTM1c.1034A>C (p.Glu345Ala)
c.782A>C (p.Glu261Ala)
c.950+424A>C (n.950+424A>C)
5g.179833651A>GCA362452557SQSTM1c.1034A>G (p.Glu345Gly)
c.782A>G (p.Glu261Gly)
c.950+424A>G (n.950+424A>G)
5g.179833651A>TCA362452558SQSTM1c.1034A>T (p.Glu345Val)
c.782A>T (p.Glu261Val)
c.950+424A>T (n.950+424A>T)
5g.179833652A>CCA362452560SQSTM1c.1035A>C (p.Glu345Asp)
c.783A>C (p.Glu261Asp)
c.950+425A>C (n.950+425A>C)
5g.179833652A>GCA448069239SQSTM1c.1035A>G (p.Glu345=)
c.783A>G (p.Glu261=)
c.950+425A>G (n.950+425A>G)
5g.179833652A>TCA362452561SQSTM1c.1035A>T (p.Glu345Asp)
c.783A>T (p.Glu261Asp)
c.950+425A>T (n.950+425A>T)
5g.179833653G>ACA362452567SQSTM1c.1036G>A (p.Val346Met)
c.784G>A (p.Val262Met)
c.950+426G>A (n.950+426G>A)
5g.179833653G>CCA362452565SQSTM1c.1036G>C (p.Val346Leu)
c.784G>C (p.Val262Leu)
c.950+426G>C (n.950+426G>C)
gnomAD v4
5g.179833653G>TCA362452563SQSTM1c.1036G>T (p.Val346Leu)
c.784G>T (p.Val262Leu)
c.950+426G>T (n.950+426G>T)
ClinVar
5g.179833654T>ACA362452568SQSTM1c.1037T>A (p.Val346Glu)
c.785T>A (p.Val262Glu)
c.950+427T>A (n.950+427T>A)
dbSNP
5g.179833654T>CCA362452570SQSTM1c.1037T>C (p.Val346Ala)
c.785T>C (p.Val262Ala)
c.950+427T>C (n.950+427T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179833654T>GCA362452572SQSTM1c.1037T>G (p.Val346Gly)
c.785T>G (p.Val262Gly)
c.950+427T>G (n.950+427T>G)
5g.179833654T=CA1604334097SQSTM1c.1037T= (p.Val346=)
c.785T= (p.Val262=)
c.950+427T= (n.950+427T=)
5g.179833655G>ACA3600784SQSTM1c.1038G>A (p.Val346=)
c.786G>A (p.Val262=)
c.950+428G>A (n.950+428G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833655G>CCA448069258SQSTM1c.1038G>C (p.Val346=)
c.786G>C (p.Val262=)
c.950+428G>C (n.950+428G>C)
5g.179833655G=CA1604334098SQSTM1c.1038G= (p.Val346=)
c.786G= (p.Val262=)
c.950+428G= (n.950+428G=)
5g.179833655G>TCA448069260SQSTM1c.1038G>T (p.Val346=)
c.786G>T (p.Val262=)
c.950+428G>T (n.950+428G>T)
5g.179833656G>ACA3600785SQSTM1c.1039G>A (p.Asp347Asn)
c.787G>A (p.Asp263Asn)
c.950+429G>A (n.950+429G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833656G>CCA362452574SQSTM1c.1039G>C (p.Asp347His)
c.787G>C (p.Asp263His)
c.950+429G>C (n.950+429G>C)
5g.179833656G=CA1604334099SQSTM1c.1039G= (p.Asp347=)
c.787G= (p.Asp263=)
c.950+429G= (n.950+429G=)
5g.179833656G>TCA362452576SQSTM1c.1039G>T (p.Asp347Tyr)
c.787G>T (p.Asp263Tyr)
c.950+429G>T (n.950+429G>T)
5g.179833657A=CA1604334100SQSTM1c.1040A= (p.Asp347=)
c.788A= (p.Asp263=)
c.950+430A= (n.950+430A=)
5g.179833657A>CCA362452581SQSTM1c.1040A>C (p.Asp347Ala)
c.788A>C (p.Asp263Ala)
c.950+430A>C (n.950+430A>C)
gnomAD v4
5g.179833657A>GCA362452580SQSTM1c.1040A>G (p.Asp347Gly)
c.788A>G (p.Asp263Gly)
c.950+430A>G (n.950+430A>G)
dbSNP gnomAD v4
5g.179833657A>TCA362452578SQSTM1c.1040A>T (p.Asp347Val)
c.788A>T (p.Asp263Val)
c.950+430A>T (n.950+430A>T)
5g.179833658C>ACA362452582SQSTM1c.1041C>A (p.Asp347Glu)
c.789C>A (p.Asp263Glu)
c.950+431C>A (n.950+431C>A)
5g.179833658C=CA1604334101SQSTM1c.1041C= (p.Asp347=)
c.789C= (p.Asp263=)
c.950+431C= (n.950+431C=)
5g.179833658C>GCA362452583SQSTM1c.1041C>G (p.Asp347Glu)
c.789C>G (p.Asp263Glu)
c.950+431C>G (n.950+431C>G)
5g.179833658C>TCA448069285SQSTM1c.1041C>T (p.Asp347=)
c.789C>T (p.Asp263=)
c.950+431C>T (n.950+431C>T)
dbSNP gnomAD v4
5g.179833659C>ACA362452585SQSTM1c.1042C>A (p.Pro348Thr)
c.790C>A (p.Pro264Thr)
c.950+432C>A (n.950+432C>A)
5g.179833659C>GCA362452587SQSTM1c.1042C>G (p.Pro348Ala)
c.790C>G (p.Pro264Ala)
c.950+432C>G (n.950+432C>G)
5g.179833659C>TCA362452588SQSTM1c.1042C>T (p.Pro348Ser)
c.790C>T (p.Pro264Ser)
c.950+432C>T (n.950+432C>T)
gnomAD v4
5g.179833660C>ACA362452590SQSTM1c.1043C>A (p.Pro348Gln)
c.791C>A (p.Pro264Gln)
c.950+433C>A (n.950+433C>A)
5g.179833660C=CA1604334102SQSTM1c.1043C= (p.Pro348=)
c.791C= (p.Pro264=)
c.950+433C= (n.950+433C=)
5g.179833660C>GCA362452592SQSTM1c.1043C>G (p.Pro348Arg)
c.791C>G (p.Pro264Arg)
c.950+433C>G (n.950+433C>G)
5g.179833660C>TCA16618194SQSTM1c.1043C>T (p.Pro348Leu)
c.791C>T (p.Pro264Leu)
c.950+433C>T (n.950+433C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.179833661G>ACA3600786SQSTM1c.1044G>A (p.Pro348=)
c.792G>A (p.Pro264=)
c.950+434G>A (n.950+434G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833661G>CCA448069315SQSTM1c.1044G>C (p.Pro348=)
c.792G>C (p.Pro264=)
c.950+434G>C (n.950+434G>C)
5g.179833661G=CA1604334103SQSTM1c.1044G= (p.Pro348=)
c.792G= (p.Pro264=)
c.950+434G= (n.950+434G=)
5g.179833661G>TCA448069318SQSTM1c.1044G>T (p.Pro348=)
c.792G>T (p.Pro264=)
c.950+434G>T (n.950+434G>T)
5g.179833662T>ACA3600787SQSTM1c.1045T>A (p.Ser349Thr)
c.793T>A (p.Ser265Thr)
c.950+435T>A (n.950+435T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833662T>CCA362452596SQSTM1c.1045T>C (p.Ser349Pro)
c.793T>C (p.Ser265Pro)
c.950+435T>C (n.950+435T>C)
5g.179833662T>GCA362452597SQSTM1c.1045T>G (p.Ser349Ala)
c.793T>G (p.Ser265Ala)
c.950+435T>G (n.950+435T>G)
5g.179833662T=CA1604334104SQSTM1c.1045T= (p.Ser349=)
c.793T= (p.Ser265=)
c.950+435T= (n.950+435T=)
5g.179833663C>ACA362452601SQSTM1c.1046C>A (p.Ser349Tyr)
c.794C>A (p.Ser265Tyr)
c.950+436C>A (n.950+436C>A)
5g.179833663C>GCA362452603SQSTM1c.1046C>G (p.Ser349Cys)
c.794C>G (p.Ser265Cys)
c.950+436C>G (n.950+436C>G)
dbSNP
5g.179833663C>TCA362452605SQSTM1c.1046C>T (p.Ser349Phe)
c.794C>T (p.Ser265Phe)
c.950+436C>T (n.950+436C>T)
5g.179833664T>ACA448069330SQSTM1c.1047T>A (p.Ser349=)
c.795T>A (p.Ser265=)
c.950+437T>A (n.950+437T>A)
5g.179833664T>CCA3600788SQSTM1c.1047T>C (p.Ser349=)
c.795T>C (p.Ser265=)
c.950+437T>C (n.950+437T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833664T>GCA448069340SQSTM1c.1047T>G (p.Ser349=)
c.795T>G (p.Ser265=)
c.950+437T>G (n.950+437T>G)
5g.179833664T=CA1604334105SQSTM1c.1047T= (p.Ser349=)
c.795T= (p.Ser265=)
c.950+437T= (n.950+437T=)
5g.179833664_179833665delinsTACA1604334106SQSTM1c.1047_1048delinsTA (p.Ser349=)
c.795_796delinsTA (p.Ser265=)
c.950+437_950+438delinsTA (n.950+437_950+438delinsTA)
5g.179833665delCA3600789SQSTM1c.1048del (p.Thr350GlnfsTer28)
c.796del (p.Thr266GlnfsTer28)
c.950+438del (n.950+438del)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833665A>CCA362452612SQSTM1c.1048A>C (p.Thr350Pro)
c.796A>C (p.Thr266Pro)
c.950+438A>C (n.950+438A>C)
5g.179833665A>GCA362452607SQSTM1c.1048A>G (p.Thr350Ala)
c.796A>G (p.Thr266Ala)
c.950+438A>G (n.950+438A>G)
5g.179833665A>TCA362452611SQSTM1c.1048A>T (p.Thr350Ser)
c.796A>T (p.Thr266Ser)
c.950+438A>T (n.950+438A>T)
5g.179833666C>ACA362452615SQSTM1c.1049C>A (p.Thr350Lys)
c.797C>A (p.Thr266Lys)
c.950+439C>A (n.950+439C>A)
5g.179833666C>GCA362452618SQSTM1c.1049C>G (p.Thr350Arg)
c.797C>G (p.Thr266Arg)
c.950+439C>G (n.950+439C>G)
ClinVar gnomAD v4
5g.179833666C>TCA362452621SQSTM1c.1049C>T (p.Thr350Ile)
c.797C>T (p.Thr266Ile)
c.950+439C>T (n.950+439C>T)
5g.179833667A>CCA448069367SQSTM1c.1050A>C (p.Thr350=)
c.798A>C (p.Thr266=)
c.950+440A>C (n.950+440A>C)
ClinVar dbSNP gnomAD v4
5g.179833667A>GCA448069359SQSTM1c.1050A>G (p.Thr350=)
c.798A>G (p.Thr266=)
c.950+440A>G (n.950+440A>G)
5g.179833667A>TCA448069365SQSTM1c.1050A>T (p.Thr350=)
c.798A>T (p.Thr266=)
c.950+440A>T (n.950+440A>T)
5g.179833668G>ACA362452624SQSTM1c.1051G>A (p.Gly351Ser)
c.799G>A (p.Gly267Ser)
c.950+441G>A (n.950+441G>A)
5g.179833668G>CCA362452625SQSTM1c.1051G>C (p.Gly351Arg)
c.799G>C (p.Gly267Arg)
c.950+441G>C (n.950+441G>C)
5g.179833668G>TCA362452627SQSTM1c.1051G>T (p.Gly351Cys)
c.799G>T (p.Gly267Cys)
c.950+441G>T (n.950+441G>T)
5g.179833669G>ACA362452630SQSTM1c.1052G>A (p.Gly351Asp)
c.800G>A (p.Gly267Asp)
c.950+442G>A (n.950+442G>A)
5g.179833669G>CCA362452633SQSTM1c.1052G>C (p.Gly351Ala)
c.800G>C (p.Gly267Ala)
c.950+442G>C (n.950+442G>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179833669G=CA1604334107SQSTM1c.1052G= (p.Gly351=)
c.800G= (p.Gly267=)
c.950+442G= (n.950+442G=)
5g.179833669G>TCA362452636SQSTM1c.1052G>T (p.Gly351Val)
c.800G>T (p.Gly267Val)
c.950+442G>T (n.950+442G>T)
5g.179833670T>ACA448069379SQSTM1c.1053T>A (p.Gly351=)
c.801T>A (p.Gly267=)
c.950+443T>A (n.950+443T>A)
5g.179833670T>CCA448069380SQSTM1c.1053T>C (p.Gly351=)
c.801T>C (p.Gly267=)
c.950+443T>C (n.950+443T>C)
5g.179833670T>GCA448069381SQSTM1c.1053T>G (p.Gly351=)
c.801T>G (p.Gly267=)
c.950+443T>G (n.950+443T>G)
5g.179833671G>ACA362452638SQSTM1c.1054G>A (p.Glu352Lys)
c.802G>A (p.Glu268Lys)
c.950+444G>A (n.950+444G>A)
5g.179833671G>CCA362452641SQSTM1c.1054G>C (p.Glu352Gln)
c.802G>C (p.Glu268Gln)
c.950+444G>C (n.950+444G>C)
ClinVar dbSNP
5g.179833671G=CA1604334108SQSTM1c.1054G= (p.Glu352=)
c.802G= (p.Glu268=)
c.950+444G= (n.950+444G=)
5g.179833671G>TCA133109718SQSTM1c.1054G>T (p.Glu352Ter)
c.802G>T (p.Glu268Ter)
c.950+444G>T (n.950+444G>T)
ClinVar dbSNP gnomAD v4
5g.179833672A>CCA362452643SQSTM1c.1055A>C (p.Glu352Ala)
c.803A>C (p.Glu268Ala)
c.950+445A>C (n.950+445A>C)
5g.179833672A>GCA362452648SQSTM1c.1055A>G (p.Glu352Gly)
c.803A>G (p.Glu268Gly)
c.950+445A>G (n.950+445A>G)
5g.179833672A>TCA362452646SQSTM1c.1055A>T (p.Glu352Val)
c.803A>T (p.Glu268Val)
c.950+445A>T (n.950+445A>T)
ClinVar
5g.179833673A>CCA362452650SQSTM1c.1056A>C (p.Glu352Asp)
c.804A>C (p.Glu268Asp)
c.950+446A>C (n.950+446A>C)
gnomAD v4
5g.179833673A>GCA448069401SQSTM1c.1056A>G (p.Glu352=)
c.804A>G (p.Glu268=)
c.950+446A>G (n.950+446A>G)
5g.179833673A>TCA362452652SQSTM1c.1056A>T (p.Glu352Asp)
c.804A>T (p.Glu268Asp)
c.950+446A>T (n.950+446A>T)
5g.179833674C>ACA362452656SQSTM1c.1057C>A (p.Leu353Ile)
c.805C>A (p.Leu269Ile)
c.950+447C>A (n.950+447C>A)
5g.179833674C>GCA362452657SQSTM1c.1057C>G (p.Leu353Val)
c.805C>G (p.Leu269Val)
c.950+447C>G (n.950+447C>G)
5g.179833674C>TCA362452660SQSTM1c.1057C>T (p.Leu353Phe)
c.805C>T (p.Leu269Phe)
c.950+447C>T (n.950+447C>T)
gnomAD v4
5g.179833675T>ACA362452664SQSTM1c.1058T>A (p.Leu353His)
c.806T>A (p.Leu269His)
c.950+448T>A (n.950+448T>A)
5g.179833675T>CCA362452666SQSTM1c.1058T>C (p.Leu353Pro)
c.806T>C (p.Leu269Pro)
c.950+448T>C (n.950+448T>C)
ClinVar gnomAD v4
5g.179833675T>GCA362452668SQSTM1c.1058T>G (p.Leu353Arg)
c.806T>G (p.Leu269Arg)
c.950+448T>G (n.950+448T>G)
5g.179833675_179833676delinsTCCA1604334109SQSTM1c.1058_1059delinsTC (p.Leu353=)
c.806_807delinsTC (p.Leu269=)
c.950+448_950+449delinsTC (n.950+448_950+449delinsTC)
5g.179833676C>ACA448069420SQSTM1c.1059C>A (p.Leu353=)
c.807C>A (p.Leu269=)
c.950+449C>A (n.950+449C>A)
5g.179833676C=CA1604334111SQSTM1c.1059C= (p.Leu353=)
c.807C= (p.Leu269=)
c.950+449C= (n.950+449C=)
5g.179833676C>GCA448069423SQSTM1c.1059C>G (p.Leu353=)
c.807C>G (p.Leu269=)
c.950+449C>G (n.950+449C>G)
5g.179833676C>TCA448069424SQSTM1c.1059C>T (p.Leu353=)
c.807C>T (p.Leu269=)
c.950+449C>T (n.950+449C>T)
dbSNP gnomAD v4
5g.179833677delCA1085049772SQSTM1c.1060del (p.Gln354SerfsTer24)
c.808del (p.Gln270SerfsTer24)
c.950+450del (n.950+450del)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.179833676_179833678delinsCCACA1604334110SQSTM1c.1059_1061delinsCCA (p.Leu353=)
c.807_809delinsCCA (p.Leu269=)
c.950+449_950+451delinsCCA (n.950+449_950+451delinsCCA)
5g.179833677C>ACA362452672SQSTM1c.1060C>A (p.Gln354Lys)
c.808C>A (p.Gln270Lys)
c.950+450C>A (n.950+450C>A)
ClinVar gnomAD v4
5g.179833677C>GCA362452674SQSTM1c.1060C>G (p.Gln354Glu)
c.808C>G (p.Gln270Glu)
c.950+450C>G (n.950+450C>G)
5g.179833677C>TCA362452677SQSTM1c.1060C>T (p.Gln354Ter)
c.808C>T (p.Gln270Ter)
c.950+450C>T (n.950+450C>T)
5g.179833677_179833678delCA3600790SQSTM1c.1060_1061del (p.Gln354ValfsTer?)
c.808_809del (p.Gln270ValfsTer?)
c.950+450_950+451del (n.950+450_950+451del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833678A>CCA362452690SQSTM1c.1061A>C (p.Gln354Pro)
c.809A>C (p.Gln270Pro)
c.950+451A>C (n.950+451A>C)
5g.179833678A>GCA362452691SQSTM1c.1061A>G (p.Gln354Arg)
c.809A>G (p.Gln270Arg)
c.950+451A>G (n.950+451A>G)
gnomAD v4
5g.179833678A>TCA362452688SQSTM1c.1061A>T (p.Gln354Leu)
c.809A>T (p.Gln270Leu)
c.950+451A>T (n.950+451A>T)
5g.179833679G>ACA448069437SQSTM1c.1062G>A (p.Gln354=)
c.810G>A (p.Gln270=)
c.950+452G>A (n.950+452G>A)
5g.179833679G>CCA133109719SQSTM1c.1062G>C (p.Gln354His)
c.810G>C (p.Gln270His)
c.950+452G>C (n.950+452G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.179833679G=CA1604334112SQSTM1c.1062G= (p.Gln354=)
c.810G= (p.Gln270=)
c.950+452G= (n.950+452G=)
5g.179833679G>TCA362452695SQSTM1c.1062G>T (p.Gln354His)
c.810G>T (p.Gln270His)
c.950+452G>T (n.950+452G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179833680T>ACA362452699SQSTM1c.1063T>A (p.Ser355Thr)
c.811T>A (p.Ser271Thr)
c.950+453T>A (n.950+453T>A)
5g.179833680T>CCA362452701SQSTM1c.1063T>C (p.Ser355Pro)
c.811T>C (p.Ser271Pro)
c.950+453T>C (n.950+453T>C)
5g.179833680T>GCA362452703SQSTM1c.1063T>G (p.Ser355Ala)
c.811T>G (p.Ser271Ala)
c.950+453T>G (n.950+453T>G)
5g.179833681C>ACA362452710SQSTM1c.1064C>A (p.Ser355Tyr)
c.812C>A (p.Ser271Tyr)
c.950+454C>A (n.950+454C>A)
5g.179833681C=CA1604334113SQSTM1c.1064C= (p.Ser355=)
c.812C= (p.Ser271=)
c.950+454C= (n.950+454C=)
5g.179833681C>GCA362452706SQSTM1c.1064C>G (p.Ser355Cys)
c.812C>G (p.Ser271Cys)
c.950+454C>G (n.950+454C>G)
5g.179833681C>TCA362452709SQSTM1c.1064C>T (p.Ser355Phe)
c.812C>T (p.Ser271Phe)
c.950+454C>T (n.950+454C>T)
dbSNP gnomAD v2 gnomAD v4
5g.179833682C>ACA448069465SQSTM1c.1065C>A (p.Ser355=)
c.813C>A (p.Ser271=)
c.950+455C>A (n.950+455C>A)
5g.179833682C>GCA448069467SQSTM1c.1065C>G (p.Ser355=)
c.813C>G (p.Ser271=)
c.950+455C>G (n.950+455C>G)
5g.179833682C>TCA448069471SQSTM1c.1065C>T (p.Ser355=)
c.813C>T (p.Ser271=)
c.950+455C>T (n.950+455C>T)
5g.179833683C>ACA362452712SQSTM1c.1066C>A (p.Leu356Ile)
c.814C>A (p.Leu272Ile)
c.950+456C>A (n.950+456C>A)
5g.179833683C>GCA362452715SQSTM1c.1066C>G (p.Leu356Val)
c.814C>G (p.Leu272Val)
c.950+456C>G (n.950+456C>G)
5g.179833683C>TCA448069475SQSTM1c.1066C>T (p.Leu356=)
c.814C>T (p.Leu272=)
c.950+456C>T (n.950+456C>T)
gnomAD v4
5g.179833684T>ACA362452716SQSTM1c.1067T>A (p.Leu356Gln)
c.815T>A (p.Leu272Gln)
c.950+457T>A (n.950+457T>A)
5g.179833684T>CCA362452719SQSTM1c.1067T>C (p.Leu356Pro)
c.815T>C (p.Leu272Pro)
c.950+457T>C (n.950+457T>C)
5g.179833684T>GCA362452720SQSTM1c.1067T>G (p.Leu356Arg)
c.815T>G (p.Leu272Arg)
c.950+457T>G (n.950+457T>G)
5g.179833685A>CCA448069495SQSTM1c.1068A>C (p.Leu356=)
c.816A>C (p.Leu272=)
c.950+458A>C (n.950+458A>C)
5g.179833685A>GCA448069498SQSTM1c.1068A>G (p.Leu356=)
c.816A>G (p.Leu272=)
c.950+458A>G (n.950+458A>G)
5g.179833685A>TCA448069505SQSTM1c.1068A>T (p.Leu356=)
c.816A>T (p.Leu272=)
c.950+458A>T (n.950+458A>T)
5g.179833686C>ACA362452723SQSTM1c.1069C>A (p.Gln357Lys)
c.817C>A (p.Gln273Lys)
c.950+459C>A (n.950+459C>A)
5g.179833686C>GCA362452727SQSTM1c.1069C>G (p.Gln357Glu)
c.817C>G (p.Gln273Glu)
c.950+459C>G (n.950+459C>G)
ClinVar dbSNP
5g.179833686C>TCA362452724SQSTM1c.1069C>T (p.Gln357Ter)
c.817C>T (p.Gln273Ter)
c.950+459C>T (n.950+459C>T)
5g.179833687A=CA1604334114SQSTM1c.1070A= (p.Gln357=)
c.818A= (p.Gln273=)
c.950+460A= (n.950+460A=)
5g.179833687A>CCA362452729SQSTM1c.1070A>C (p.Gln357Pro)
c.818A>C (p.Gln273Pro)
c.950+460A>C (n.950+460A>C)
5g.179833687A>GCA362452734SQSTM1c.1070A>G (p.Gln357Arg)
c.818A>G (p.Gln273Arg)
c.950+460A>G (n.950+460A>G)
ClinVar gnomAD v4
5g.179833687A>TCA362452732SQSTM1c.1070A>T (p.Gln357Leu)
c.818A>T (p.Gln273Leu)
c.950+460A>T (n.950+460A>T)
dbSNP gnomAD v2 gnomAD v4
5g.179833688G>ACA133109720SQSTM1c.1071G>A (p.Gln357=)
c.819G>A (p.Gln273=)
c.950+461G>A (n.950+461G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179833688G>CCA362452736SQSTM1c.1071G>C (p.Gln357His)
c.819G>C (p.Gln273His)
c.950+461G>C (n.950+461G>C)
5g.179833688G=CA1604334115SQSTM1c.1071G= (p.Gln357=)
c.819G= (p.Gln273=)
c.950+461G= (n.950+461G=)
5g.179833688G>TCA362452739SQSTM1c.1071G>T (p.Gln357His)
c.819G>T (p.Gln273His)
c.950+461G>T (n.950+461G>T)
ClinVar dbSNP
5g.179833689A>CCA362452743SQSTM1c.1072A>C (p.Met358Leu)
c.820A>C (p.Met274Leu)
c.950+462A>C (n.950+462A>C)
5g.179833689A>GCA362452745SQSTM1c.1072A>G (p.Met358Val)
c.820A>G (p.Met274Val)
c.950+462A>G (n.950+462A>G)
ClinVar dbSNP
5g.179833689A>TCA362452747SQSTM1c.1072A>T (p.Met358Leu)
c.820A>T (p.Met274Leu)
c.950+462A>T (n.950+462A>T)
5g.179833690T>ACA362452750SQSTM1c.1073T>A (p.Met358Lys)
c.821T>A (p.Met274Lys)
c.950+463T>A (n.950+463T>A)
5g.179833690T>CCA362452752SQSTM1c.1073T>C (p.Met358Thr)
c.821T>C (p.Met274Thr)
c.950+463T>C (n.950+463T>C)
5g.179833690T>GCA362452754SQSTM1c.1073T>G (p.Met358Arg)
c.821T>G (p.Met274Arg)
c.950+463T>G (n.950+463T>G)
5g.179833691G>ACA133109721SQSTM1c.1074G>A (p.Met358Ile)
c.822G>A (p.Met274Ile)
c.950+464G>A (n.950+464G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.179833691G>CCA362452758SQSTM1c.1074G>C (p.Met358Ile)
c.822G>C (p.Met274Ile)
c.950+464G>C (n.950+464G>C)
5g.179833691G=CA1604334116SQSTM1c.1074G= (p.Met358=)
c.822G= (p.Met274=)
c.950+464G= (n.950+464G=)
5g.179833691G>TCA362452760SQSTM1c.1074G>T (p.Met358Ile)
c.822G>T (p.Met274Ile)
c.950+464G>T (n.950+464G>T)
5g.179833692C>ACA362452765SQSTM1c.1075C>A (p.Pro359Thr)
c.823C>A (p.Pro275Thr)
c.950+465C>A (n.950+465C>A)
5g.179833692C=CA1604334117SQSTM1c.1075C= (p.Pro359=)
c.823C= (p.Pro275=)
c.950+465C= (n.950+465C=)
5g.179833692C>GCA362452763SQSTM1c.1075C>G (p.Pro359Ala)
c.823C>G (p.Pro275Ala)
c.950+465C>G (n.950+465C>G)
5g.179833692C>TCA3600791SQSTM1c.1075C>T (p.Pro359Ser)
c.823C>T (p.Pro275Ser)
c.950+465C>T (n.950+465C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.179833693C>ACA362452768SQSTM1c.1076C>A (p.Pro359Gln)
c.824C>A (p.Pro275Gln)
c.950+466C>A (n.950+466C>A)
5g.179833693C>GCA362452771SQSTM1c.1076C>G (p.Pro359Arg)
c.824C>G (p.Pro275Arg)
c.950+466C>G (n.950+466C>G)
5g.179833693C>TCA362452774SQSTM1c.1076C>T (p.Pro359Leu)
c.824C>T (p.Pro275Leu)
c.950+466C>T (n.950+466C>T)
gnomAD v4
5g.179833694A=CA1604334118SQSTM1c.1077A= (p.Pro359=)
c.825A= (p.Pro275=)
c.950+467A= (n.950+467A=)
5g.179833694A>CCA448069559SQSTM1c.1077A>C (p.Pro359=)
c.825A>C (p.Pro275=)
c.950+467A>C (n.950+467A>C)
5g.179833694A>GCA3600792SQSTM1c.1077A>G (p.Pro359=)
c.825A>G (p.Pro275=)
c.950+467A>G (n.950+467A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833694A>TCA448069565SQSTM1c.1077A>T (p.Pro359=)
c.825A>T (p.Pro275=)
c.950+467A>T (n.950+467A>T)
5g.179833695G>ACA362452779SQSTM1c.1078G>A (p.Glu360Lys)
c.826G>A (p.Glu276Lys)
c.950+468G>A (n.950+468G>A)
COSMIC
5g.179833695G>CCA362452782SQSTM1c.1078G>C (p.Glu360Gln)
c.826G>C (p.Glu276Gln)
c.950+468G>C (n.950+468G>C)
dbSNP
5g.179833695G=CA1604334119SQSTM1c.1078G= (p.Glu360=)
c.826G= (p.Glu276=)
c.950+468G= (n.950+468G=)
5g.179833695G>TCA362452785SQSTM1c.1078G>T (p.Glu360Ter)
c.826G>T (p.Glu276Ter)
c.950+468G>T (n.950+468G>T)
5g.179833696A>CCA362452788SQSTM1c.1079A>C (p.Glu360Ala)
c.827A>C (p.Glu276Ala)
c.950+469A>C (n.950+469A>C)
5g.179833696A>GCA362452789SQSTM1c.1079A>G (p.Glu360Gly)
c.827A>G (p.Glu276Gly)
c.950+469A>G (n.950+469A>G)
5g.179833696A>TCA362452792SQSTM1c.1079A>T (p.Glu360Val)
c.827A>T (p.Glu276Val)
c.950+469A>T (n.950+469A>T)
5g.179833697A=CA1604334120SQSTM1c.1080A= (p.Glu360=)
c.828A= (p.Glu276=)
c.950+470A= (n.950+470A=)
5g.179833697A>CCA362452795SQSTM1c.1080A>C (p.Glu360Asp)
c.828A>C (p.Glu276Asp)
c.950+470A>C (n.950+470A>C)
5g.179833697A>GCA448069582SQSTM1c.1080A>G (p.Glu360=)
c.828A>G (p.Glu276=)
c.950+470A>G (n.950+470A>G)
dbSNP
5g.179833697A>TCA362452797SQSTM1c.1080A>T (p.Glu360Asp)
c.828A>T (p.Glu276Asp)
c.950+470A>T (n.950+470A>T)
5g.179833698T>ACA362452806SQSTM1c.1081T>A (p.Ser361Thr)
c.829T>A (p.Ser277Thr)
c.950+471T>A (n.950+471T>A)
5g.179833698T>CCA362452803SQSTM1c.1081T>C (p.Ser361Pro)
c.829T>C (p.Ser277Pro)
c.950+471T>C (n.950+471T>C)
5g.179833698T>GCA362452801SQSTM1c.1081T>G (p.Ser361Ala)
c.829T>G (p.Ser277Ala)
c.950+471T>G (n.950+471T>G)
ClinVar
5g.179833699C>ACA362452808SQSTM1c.1082C>A (p.Ser361Tyr)
c.830C>A (p.Ser277Tyr)
c.950+472C>A (n.950+472C>A)
5g.179833699C>GCA362452813SQSTM1c.1082C>G (p.Ser361Cys)
c.830C>G (p.Ser277Cys)
c.950+472C>G (n.950+472C>G)
5g.179833699C>TCA362452815SQSTM1c.1082C>T (p.Ser361Phe)
c.830C>T (p.Ser277Phe)
c.950+472C>T (n.950+472C>T)
gnomAD v4
5g.179833700C>ACA448069604SQSTM1c.1083C>A (p.Ser361=)
c.831C>A (p.Ser277=)
c.950+473C>A (n.950+473C>A)
5g.179833700C=CA1604334121SQSTM1c.1083C= (p.Ser361=)
c.831C= (p.Ser277=)
c.950+473C= (n.950+473C=)
5g.179833700C>GCA448069607SQSTM1c.1083C>G (p.Ser361=)
c.831C>G (p.Ser277=)
c.950+473C>G (n.950+473C>G)
gnomAD v4
5g.179833700C>TCA3600793SQSTM1c.1083C>T (p.Ser361=)
c.831C>T (p.Ser277=)
c.950+473C>T (n.950+473C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833701G>ACA3600794SQSTM1c.1084G>A (p.Glu362Lys)
c.832G>A (p.Glu278Lys)
c.950+474G>A (n.950+474G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833701G>CCA362452822SQSTM1c.1084G>C (p.Glu362Gln)
c.832G>C (p.Glu278Gln)
c.950+474G>C (n.950+474G>C)
5g.179833701G=CA1604334122SQSTM1c.1084G= (p.Glu362=)
c.832G= (p.Glu278=)
c.950+474G= (n.950+474G=)
5g.179833701G>TCA362452824SQSTM1c.1084G>T (p.Glu362Ter)
c.832G>T (p.Glu278Ter)
c.950+474G>T (n.950+474G>T)
5g.179833702A>CCA362452827SQSTM1c.1085A>C (p.Glu362Ala)
c.833A>C (p.Glu278Ala)
c.950+475A>C (n.950+475A>C)
5g.179833702A>GCA362452829SQSTM1c.1085A>G (p.Glu362Gly)
c.833A>G (p.Glu278Gly)
c.950+475A>G (n.950+475A>G)
5g.179833702A>TCA362452836SQSTM1c.1085A>T (p.Glu362Val)
c.833A>T (p.Glu278Val)
c.950+475A>T (n.950+475A>T)
5g.179833703A>CCA362452841SQSTM1c.1086A>C (p.Glu362Asp)
c.834A>C (p.Glu278Asp)
c.950+476A>C (n.950+476A>C)
5g.179833703A>GCA448069617SQSTM1c.1086A>G (p.Glu362=)
c.834A>G (p.Glu278=)
c.950+476A>G (n.950+476A>G)
5g.179833703A>TCA362452843SQSTM1c.1086A>T (p.Glu362Asp)
c.834A>T (p.Glu278Asp)
c.950+476A>T (n.950+476A>T)
5g.179833704G>ACA362452850SQSTM1c.1087G>A (p.Gly363Arg)
c.835G>A (p.Gly279Arg)
c.950+477G>A (n.950+477G>A)
ClinVar gnomAD v4
5g.179833704G>CCA362452848SQSTM1c.1087G>C (p.Gly363Arg)
c.835G>C (p.Gly279Arg)
c.950+477G>C (n.950+477G>C)
gnomAD v4
5g.179833704G>TCA362452846SQSTM1c.1087G>T (p.Gly363Trp)
c.835G>T (p.Gly279Trp)
c.950+477G>T (n.950+477G>T)
5g.179833706delCA2695205811SQSTM1c.1089del (p.Pro364GlnfsTer14)
c.837del (p.Pro280GlnfsTer14)
c.950+479del (n.950+479del)
5g.179833705G>ACA3600795SQSTM1c.1088G>A (p.Gly363Glu)
c.836G>A (p.Gly279Glu)
c.950+478G>A (n.950+478G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833705G>CCA362452854SQSTM1c.1088G>C (p.Gly363Ala)
c.836G>C (p.Gly279Ala)
c.950+478G>C (n.950+478G>C)
5g.179833705G=CA1604334123SQSTM1c.1088G= (p.Gly363=)
c.836G= (p.Gly279=)
c.950+478G= (n.950+478G=)
5g.179833705G>TCA362452856SQSTM1c.1088G>T (p.Gly363Val)
c.836G>T (p.Gly279Val)
c.950+478G>T (n.950+478G>T)
5g.179833705_179833707delCA2676907543SQSTM1c.1088_1090del (p.Gly363_Pro364delinsAla)
c.836_838del (p.Gly279_Pro280delinsAla)
c.950+478_950+480del (n.950+478_950+480del)
gnomAD v4
5g.179833706G>ACA448069646SQSTM1c.1089G>A (p.Gly363=)
c.837G>A (p.Gly279=)
c.950+479G>A (n.950+479G>A)
ClinVar dbSNP
5g.179833706G>CCA448069648SQSTM1c.1089G>C (p.Gly363=)
c.837G>C (p.Gly279=)
c.950+479G>C (n.950+479G>C)
5g.179833706G>TCA448069651SQSTM1c.1089G>T (p.Gly363=)
c.837G>T (p.Gly279=)
c.950+479G>T (n.950+479G>T)
5g.179833707C>ACA362452859SQSTM1c.1090C>A (p.Pro364Thr)
c.838C>A (p.Pro280Thr)
c.950+480C>A (n.950+480C>A)
5g.179833707C=CA1604334124SQSTM1c.1090C= (p.Pro364=)
c.838C= (p.Pro280=)
c.950+480C= (n.950+480C=)
5g.179833707C>GCA362452860SQSTM1c.1090C>G (p.Pro364Ala)
c.838C>G (p.Pro280Ala)
c.950+480C>G (n.950+480C>G)
5g.179833707C>TCA3600796SQSTM1c.1090C>T (p.Pro364Ser)
c.838C>T (p.Pro280Ser)
c.950+480C>T (n.950+480C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833708C>ACA362452864SQSTM1c.1091C>A (p.Pro364Gln)
c.839C>A (p.Pro280Gln)
c.950+481C>A (n.950+481C>A)
5g.179833708C>GCA362452866SQSTM1c.1091C>G (p.Pro364Arg)
c.839C>G (p.Pro280Arg)
c.950+481C>G (n.950+481C>G)
5g.179833708C>TCA362452868SQSTM1c.1091C>T (p.Pro364Leu)
c.839C>T (p.Pro280Leu)
c.950+481C>T (n.950+481C>T)
5g.179833709A=CA1604334125SQSTM1c.1092A= (p.Pro364=)
c.840A= (p.Pro280=)
c.950+482A= (n.950+482A=)
5g.179833709A>CCA448069668SQSTM1c.1092A>C (p.Pro364=)
c.840A>C (p.Pro280=)
c.950+482A>C (n.950+482A>C)
5g.179833709A>GCA448069671SQSTM1c.1092A>G (p.Pro364=)
c.840A>G (p.Pro280=)
c.950+482A>G (n.950+482A>G)
dbSNP gnomAD v4
5g.179833709A>TCA448069695SQSTM1c.1092A>T (p.Pro364=)
c.840A>T (p.Pro280=)
c.950+482A>T (n.950+482A>T)
5g.179833710A>CCA362452871SQSTM1c.1093A>C (p.Ser365Arg)
c.841A>C (p.Ser281Arg)
c.950+483A>C (n.950+483A>C)
5g.179833710A>GCA362452873SQSTM1c.1093A>G (p.Ser365Gly)
c.841A>G (p.Ser281Gly)
c.950+483A>G (n.950+483A>G)
5g.179833710A>TCA362452875SQSTM1c.1093A>T (p.Ser365Cys)
c.841A>T (p.Ser281Cys)
c.950+483A>T (n.950+483A>T)
5g.179833711G>ACA3600797SQSTM1c.1094G>A (p.Ser365Asn)
c.842G>A (p.Ser281Asn)
c.950+484G>A (n.950+484G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833711G>CCA362452878SQSTM1c.1094G>C (p.Ser365Thr)
c.842G>C (p.Ser281Thr)
c.950+484G>C (n.950+484G>C)
5g.179833711G=CA1604334126SQSTM1c.1094G= (p.Ser365=)
c.842G= (p.Ser281=)
c.950+484G= (n.950+484G=)
5g.179833711G>TCA362452877SQSTM1c.1094G>T (p.Ser365Ile)
c.842G>T (p.Ser281Ile)
c.950+484G>T (n.950+484G>T)
5g.179833712C>ACA362452879SQSTM1c.1095C>A (p.Ser365Arg)
c.843C>A (p.Ser281Arg)
c.950+485C>A (n.950+485C>A)
gnomAD v4
5g.179833712C=CA1604334127SQSTM1c.1095C= (p.Ser365=)
c.843C= (p.Ser281=)
c.950+485C= (n.950+485C=)
5g.179833712C>GCA362452880SQSTM1c.1095C>G (p.Ser365Arg)
c.843C>G (p.Ser281Arg)
c.950+485C>G (n.950+485C>G)
5g.179833712C>TCA3600798SQSTM1c.1095C>T (p.Ser365=)
c.843C>T (p.Ser281=)
c.950+485C>T (n.950+485C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833713T>ACA362452882SQSTM1c.1096T>A (p.Ser366Thr)
c.844T>A (p.Ser282Thr)
c.950+486T>A (n.950+486T>A)
5g.179833713T>CCA362452886SQSTM1c.1096T>C (p.Ser366Pro)
c.844T>C (p.Ser282Pro)
c.950+486T>C (n.950+486T>C)
5g.179833713T>GCA362452884SQSTM1c.1096T>G (p.Ser366Ala)
c.844T>G (p.Ser282Ala)
c.950+486T>G (n.950+486T>G)
gnomAD v4
5g.179833714C>ACA362452890SQSTM1c.1097C>A (p.Ser366Tyr)
c.845C>A (p.Ser282Tyr)
c.950+487C>A (n.950+487C>A)
5g.179833714C=CA1604334128SQSTM1c.1097C= (p.Ser366=)
c.845C= (p.Ser282=)
c.950+487C= (n.950+487C=)
5g.179833714C>GCA362452895SQSTM1c.1097C>G (p.Ser366Cys)
c.845C>G (p.Ser282Cys)
c.950+487C>G (n.950+487C>G)
ClinVar dbSNP
5g.179833714C>TCA362452892SQSTM1c.1097C>T (p.Ser366Phe)
c.845C>T (p.Ser282Phe)
c.950+487C>T (n.950+487C>T)
5g.179833715T>ACA448069747SQSTM1c.1098T>A (p.Ser366=)
c.846T>A (p.Ser282=)
c.950+488T>A (n.950+488T>A)
5g.179833715T>CCA448069741SQSTM1c.1098T>C (p.Ser366=)
c.846T>C (p.Ser282=)
c.950+488T>C (n.950+488T>C)
5g.179833715T>GCA448069739SQSTM1c.1098T>G (p.Ser366=)
c.846T>G (p.Ser282=)
c.950+488T>G (n.950+488T>G)
5g.179833716C>ACA362452897SQSTM1c.1099C>A (p.Leu367Met)
c.847C>A (p.Leu283Met)
c.950+489C>A (n.950+489C>A)
5g.179833716C>GCA362452898SQSTM1c.1099C>G (p.Leu367Val)
c.847C>G (p.Leu283Val)
c.950+489C>G (n.950+489C>G)
COSMIC
5g.179833716C>TCA448069753SQSTM1c.1099C>T (p.Leu367=)
c.847C>T (p.Leu283=)
c.950+489C>T (n.950+489C>T)
5g.179833717T>ACA362452901SQSTM1c.1100T>A (p.Leu367Gln)
c.848T>A (p.Leu283Gln)
c.950+490T>A (n.950+490T>A)
5g.179833717T>CCA362452904SQSTM1c.1100T>C (p.Leu367Pro)
c.848T>C (p.Leu283Pro)
c.950+490T>C (n.950+490T>C)
gnomAD v4
5g.179833717T>GCA362452906SQSTM1c.1100T>G (p.Leu367Arg)
c.848T>G (p.Leu283Arg)
c.950+490T>G (n.950+490T>G)
5g.179833718G>ACA448069759SQSTM1c.1101G>A (p.Leu367=)
c.849G>A (p.Leu283=)
c.950+491G>A (n.950+491G>A)
5g.179833718G>CCA448069770SQSTM1c.1101G>C (p.Leu367=)
c.849G>C (p.Leu283=)
c.950+491G>C (n.950+491G>C)
5g.179833718G=CA1604334129SQSTM1c.1101G= (p.Leu367=)
c.849G= (p.Leu283=)
c.950+491G= (n.950+491G=)
5g.179833718G>TCA448069773SQSTM1c.1101G>T (p.Leu367=)
c.849G>T (p.Leu283=)
c.950+491G>T (n.950+491G>T)
dbSNP
5g.179833719G>ACA362452909SQSTM1c.1102G>A (p.Asp368Asn)
c.850G>A (p.Asp284Asn)
c.950+492G>A (n.950+492G>A)
5g.179833719G>CCA362452910SQSTM1c.1102G>C (p.Asp368His)
c.850G>C (p.Asp284His)
c.950+492G>C (n.950+492G>C)
5g.179833719G>TCA362452912SQSTM1c.1102G>T (p.Asp368Tyr)
c.850G>T (p.Asp284Tyr)
c.950+492G>T (n.950+492G>T)
5g.179833720A>CCA362452913SQSTM1c.1103A>C (p.Asp368Ala)
c.851A>C (p.Asp284Ala)
c.950+493A>C (n.950+493A>C)
5g.179833720A>GCA362452914SQSTM1c.1103A>G (p.Asp368Gly)
c.851A>G (p.Asp284Gly)
c.950+493A>G (n.950+493A>G)
5g.179833720A>TCA362452916SQSTM1c.1103A>T (p.Asp368Val)
c.851A>T (p.Asp284Val)
c.950+493A>T (n.950+493A>T)
5g.179833721C>ACA362452917SQSTM1c.1104C>A (p.Asp368Glu)
c.852C>A (p.Asp284Glu)
c.950+494C>A (n.950+494C>A)
ClinVar gnomAD v4
5g.179833721C=CA1604334130SQSTM1c.1104C= (p.Asp368=)
c.852C= (p.Asp284=)
c.950+494C= (n.950+494C=)
5g.179833721C>GCA362452919SQSTM1c.1104C>G (p.Asp368Glu)
c.852C>G (p.Asp284Glu)
c.950+494C>G (n.950+494C>G)
dbSNP gnomAD v2 gnomAD v4
5g.179833721C>TCA3600799SQSTM1c.1104C>T (p.Asp368=)
c.852C>T (p.Asp284=)
c.950+494C>T (n.950+494C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833722C>ACA362452921SQSTM1c.1105C>A (p.Pro369Thr)
c.853C>A (p.Pro285Thr)
c.950+495C>A (n.950+495C>A)
5g.179833722C=CA1604334131SQSTM1c.1105C= (p.Pro369=)
c.853C= (p.Pro285=)
c.950+495C= (n.950+495C=)
5g.179833722C>GCA362452923SQSTM1c.1105C>G (p.Pro369Ala)
c.853C>G (p.Pro285Ala)
c.950+495C>G (n.950+495C>G)
5g.179833722C>TCA133109738SQSTM1c.1105C>T (p.Pro369Ser)
c.853C>T (p.Pro285Ser)
c.950+495C>T (n.950+495C>T)
dbSNP gnomAD v3 gnomAD v4
5g.179833723C>ACA362452925SQSTM1c.1106C>A (p.Pro369His)
c.854C>A (p.Pro285His)
c.950+496C>A (n.950+496C>A)
5g.179833723C>GCA362452926SQSTM1c.1106C>G (p.Pro369Arg)
c.854C>G (p.Pro285Arg)
c.950+496C>G (n.950+496C>G)
5g.179833723C>TCA362452927SQSTM1c.1106C>T (p.Pro369Leu)
c.854C>T (p.Pro285Leu)
c.950+496C>T (n.950+496C>T)
5g.179833724C>ACA448069817SQSTM1c.1107C>A (p.Pro369=)
c.855C>A (p.Pro285=)
c.950+497C>A (n.950+497C>A)
5g.179833724C>GCA448069818SQSTM1c.1107C>G (p.Pro369=)
c.855C>G (p.Pro285=)
c.950+497C>G (n.950+497C>G)
5g.179833724C>TCA448069821SQSTM1c.1107C>T (p.Pro369=)
c.855C>T (p.Pro285=)
c.950+497C>T (n.950+497C>T)
5g.179833725T>ACA362452928SQSTM1c.1108T>A (p.Ser370Thr)
c.856T>A (p.Ser286Thr)
c.950+498T>A (n.950+498T>A)
5g.179833725T>CCA3600800SQSTM1c.1108T>C (p.Ser370Pro)
c.856T>C (p.Ser286Pro)
c.950+498T>C (n.950+498T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833725T>GCA362452929SQSTM1c.1108T>G (p.Ser370Ala)
c.856T>G (p.Ser286Ala)
c.950+498T>G (n.950+498T>G)
5g.179833725T=CA1604334132SQSTM1c.1108T= (p.Ser370=)
c.856T= (p.Ser286=)
c.950+498T= (n.950+498T=)
5g.179833726C>ACA362452932SQSTM1c.1109C>A (p.Ser370Tyr)
c.857C>A (p.Ser286Tyr)
c.950+499C>A (n.950+499C>A)
5g.179833726C>GCA362452933SQSTM1c.1109C>G (p.Ser370Cys)
c.857C>G (p.Ser286Cys)
c.950+499C>G (n.950+499C>G)
gnomAD v4
5g.179833726C>TCA362452931SQSTM1c.1109C>T (p.Ser370Phe)
c.857C>T (p.Ser286Phe)
c.950+499C>T (n.950+499C>T)
ClinVar dbSNP
5g.179833727C>ACA448069836SQSTM1c.1110C>A (p.Ser370=)
c.858C>A (p.Ser286=)
c.950+500C>A (n.950+500C>A)
5g.179833727C=CA1604334133SQSTM1c.1110C= (p.Ser370=)
c.858C= (p.Ser286=)
c.950+500C= (n.950+500C=)
5g.179833727C>GCA448069837SQSTM1c.1110C>G (p.Ser370=)
c.858C>G (p.Ser286=)
c.950+500C>G (n.950+500C>G)
5g.179833727C>TCA448069840SQSTM1c.1110C>T (p.Ser370=)
c.858C>T (p.Ser286=)
c.950+500C>T (n.950+500C>T)
dbSNP gnomAD v2 gnomAD v4
5g.179833728C>ACA362452934SQSTM1c.1111C>A (p.Gln371Lys)
c.859C>A (p.Gln287Lys)
c.950+501C>A (n.950+501C>A)
ClinVar gnomAD v4
5g.179833728C=CA1604334134SQSTM1c.1111C= (p.Gln371=)
c.859C= (p.Gln287=)
c.950+501C= (n.950+501C=)
5g.179833728C>GCA362452936SQSTM1c.1111C>G (p.Gln371Glu)
c.859C>G (p.Gln287Glu)
c.950+501C>G (n.950+501C>G)
5g.179833728C>TCA362452937SQSTM1c.1111C>T (p.Gln371Ter)
c.859C>T (p.Gln287Ter)
c.950+501C>T (n.950+501C>T)
ClinVar dbSNP gnomAD v4
5g.179833729A>CCA362452939SQSTM1c.1112A>C (p.Gln371Pro)
c.860A>C (p.Gln287Pro)
c.950+502A>C (n.950+502A>C)
5g.179833729A>GCA362452940SQSTM1c.1112A>G (p.Gln371Arg)
c.860A>G (p.Gln287Arg)
c.950+502A>G (n.950+502A>G)
5g.179833729A>TCA362452942SQSTM1c.1112A>T (p.Gln371Leu)
c.860A>T (p.Gln287Leu)
c.950+502A>T (n.950+502A>T)
gnomAD v4
5g.179833730G>ACA448069861SQSTM1c.1113G>A (p.Gln371=)
c.861G>A (p.Gln287=)
c.950+503G>A (n.950+503G>A)
dbSNP gnomAD v4
5g.179833730G>CCA362452944SQSTM1c.1113G>C (p.Gln371His)
c.861G>C (p.Gln287His)
c.950+503G>C (n.950+503G>C)
5g.179833730G=CA1604334135SQSTM1c.1113G= (p.Gln371=)
c.861G= (p.Gln287=)
c.950+503G= (n.950+503G=)
5g.179833730G>TCA362452945SQSTM1c.1113G>T (p.Gln371His)
c.861G>T (p.Gln287His)
c.950+503G>T (n.950+503G>T)
5g.179833731G>ACA362452947SQSTM1c.1114G>A (p.Glu372Lys)
c.862G>A (p.Glu288Lys)
c.950+504G>A (n.950+504G>A)
dbSNP
5g.179833731G>CCA3600801SQSTM1c.1114G>C (p.Glu372Gln)
c.862G>C (p.Glu288Gln)
c.950+504G>C (n.950+504G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833731G=CA1604334136SQSTM1c.1114G= (p.Glu372=)
c.862G= (p.Glu288=)
c.950+504G= (n.950+504G=)
5g.179833731G>TCA362452950SQSTM1c.1114G>T (p.Glu372Ter)
c.862G>T (p.Glu288Ter)
c.950+504G>T (n.950+504G>T)
5g.179833732A>CCA362452955SQSTM1c.1115A>C (p.Glu372Ala)
c.863A>C (p.Glu288Ala)
c.950+505A>C (n.950+505A>C)
5g.179833732A>GCA362452953SQSTM1c.1115A>G (p.Glu372Gly)
c.863A>G (p.Glu288Gly)
c.950+505A>G (n.950+505A>G)
5g.179833732A>TCA362452951SQSTM1c.1115A>T (p.Glu372Val)
c.863A>T (p.Glu288Val)
c.950+505A>T (n.950+505A>T)
5g.179833733G>ACA3600802SQSTM1c.1116G>A (p.Glu372=)
c.864G>A (p.Glu288=)
c.950+506G>A (n.950+506G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833733G>CCA362452957SQSTM1c.1116G>C (p.Glu372Asp)
c.864G>C (p.Glu288Asp)
c.950+506G>C (n.950+506G>C)
dbSNP
5g.179833733G=CA1604334137SQSTM1c.1116G= (p.Glu372=)
c.864G= (p.Glu288=)
c.950+506G= (n.950+506G=)
5g.179833733G>TCA362452959SQSTM1c.1116G>T (p.Glu372Asp)
c.864G>T (p.Glu288Asp)
c.950+506G>T (n.950+506G>T)
5g.179833735delCA2676907566SQSTM1c.1118del (p.Gly373AspfsTer5)
c.866del (p.Gly289AspfsTer5)
c.950+508del (n.950+508del)
gnomAD v4
5g.179833734G>ACA362452961SQSTM1c.1117G>A (p.Gly373Arg)
c.865G>A (p.Gly289Arg)
c.950+507G>A (n.950+507G>A)
dbSNP
5g.179833734G>CCA362452962SQSTM1c.1117G>C (p.Gly373Arg)
c.865G>C (p.Gly289Arg)
c.950+507G>C (n.950+507G>C)
5g.179833734G=CA1604334138SQSTM1c.1117G= (p.Gly373=)
c.865G= (p.Gly289=)
c.950+507G= (n.950+507G=)
5g.179833734G>TCA362452964SQSTM1c.1117G>T (p.Gly373Ter)
c.865G>T (p.Gly289Ter)
c.950+507G>T (n.950+507G>T)
5g.179833735G>ACA362452966SQSTM1c.1118G>A (p.Gly373Glu)
c.866G>A (p.Gly289Glu)
c.950+508G>A (n.950+508G>A)
gnomAD v4
5g.179833735G>CCA362452967SQSTM1c.1118G>C (p.Gly373Ala)
c.866G>C (p.Gly289Ala)
c.950+508G>C (n.950+508G>C)
dbSNP gnomAD v3 gnomAD v4
5g.179833735G=CA1604334139SQSTM1c.1118G= (p.Gly373=)
c.866G= (p.Gly289=)
c.950+508G= (n.950+508G=)
5g.179833735G>TCA362452969SQSTM1c.1118G>T (p.Gly373Val)
c.866G>T (p.Gly289Val)
c.950+508G>T (n.950+508G>T)
5g.179833736A=CA1604334140SQSTM1c.1119A= (p.Gly373=)
c.867A= (p.Gly289=)
c.950+509A= (n.950+509A=)
5g.179833736A>CCA448069898SQSTM1c.1119A>C (p.Gly373=)
c.867A>C (p.Gly289=)
c.950+509A>C (n.950+509A>C)
5g.179833736A>GCA3600803SQSTM1c.1119A>G (p.Gly373=)
c.867A>G (p.Gly289=)
c.950+509A>G (n.950+509A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833736A>TCA448069903SQSTM1c.1119A>T (p.Gly373=)
c.867A>T (p.Gly289=)
c.950+509A>T (n.950+509A>T)
5g.179833737C>ACA362452971SQSTM1c.1120C>A (p.Pro374Thr)
c.868C>A (p.Pro290Thr)
c.950+510C>A (n.950+510C>A)
5g.179833737C=CA1604334141SQSTM1c.1120C= (p.Pro374=)
c.868C= (p.Pro290=)
c.950+510C= (n.950+510C=)
5g.179833737C>GCA362452973SQSTM1c.1120C>G (p.Pro374Ala)
c.868C>G (p.Pro290Ala)
c.950+510C>G (n.950+510C>G)
5g.179833737C>TCA362452974SQSTM1c.1120C>T (p.Pro374Ser)
c.868C>T (p.Pro290Ser)
c.950+510C>T (n.950+510C>T)
dbSNP gnomAD v4
5g.179833738C>ACA362452977SQSTM1c.1121C>A (p.Pro374His)
c.869C>A (p.Pro290His)
c.950+511C>A (n.950+511C>A)
5g.179833738C>GCA362452979SQSTM1c.1121C>G (p.Pro374Arg)
c.869C>G (p.Pro290Arg)
c.950+511C>G (n.950+511C>G)
gnomAD v4
5g.179833738C>TCA362452975SQSTM1c.1121C>T (p.Pro374Leu)
c.869C>T (p.Pro290Leu)
c.950+511C>T (n.950+511C>T)
ClinVar
5g.179833739C>ACA448069916SQSTM1c.1122C>A (p.Pro374=)
c.870C>A (p.Pro290=)
c.950+512C>A (n.950+512C>A)
5g.179833739C=CA1604334142SQSTM1c.1122C= (p.Pro374=)
c.870C= (p.Pro290=)
c.950+512C= (n.950+512C=)
5g.179833739C>GCA448069919SQSTM1c.1122C>G (p.Pro374=)
c.870C>G (p.Pro290=)
c.950+512C>G (n.950+512C>G)
5g.179833739C>TCA3600804SQSTM1c.1122C>T (p.Pro374=)
c.870C>T (p.Pro290=)
c.950+512C>T (n.950+512C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833740A>CCA362452981SQSTM1c.1123A>C (p.Thr375Pro)
c.871A>C (p.Thr291Pro)
c.950+513A>C (n.950+513A>C)
5g.179833740A>GCA362452982SQSTM1c.1123A>G (p.Thr375Ala)
c.871A>G (p.Thr291Ala)
c.950+513A>G (n.950+513A>G)
5g.179833740A>TCA362452984SQSTM1c.1123A>T (p.Thr375Ser)
c.871A>T (p.Thr291Ser)
c.950+513A>T (n.950+513A>T)
5g.179833741C>ACA362452986SQSTM1c.1124C>A (p.Thr375Lys)
c.872C>A (p.Thr291Lys)
c.950+514C>A (n.950+514C>A)
gnomAD v4
5g.179833741C=CA1604334143SQSTM1c.1124C= (p.Thr375=)
c.872C= (p.Thr291=)
c.950+514C= (n.950+514C=)
5g.179833741C>GCA3600805SQSTM1c.1124C>G (p.Thr375Arg)
c.872C>G (p.Thr291Arg)
c.950+514C>G (n.950+514C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833741C>TCA362452988SQSTM1c.1124C>T (p.Thr375Ile)
c.872C>T (p.Thr291Ile)
c.950+514C>T (n.950+514C>T)
dbSNP gnomAD v4
5g.179833742A=CA1604334144SQSTM1c.1125A= (p.Thr375=)
c.873A= (p.Thr291=)
c.950+515A= (n.950+515A=)
5g.179833742A>CCA448069926SQSTM1c.1125A>C (p.Thr375=)
c.873A>C (p.Thr291=)
c.950+515A>C (n.950+515A>C)
dbSNP gnomAD v3 gnomAD v4
5g.179833742A>GCA448069928SQSTM1c.1125A>G (p.Thr375=)
c.873A>G (p.Thr291=)
c.950+515A>G (n.950+515A>G)
dbSNP gnomAD v2 gnomAD v4
5g.179833742A>TCA448069932SQSTM1c.1125A>T (p.Thr375=)
c.873A>T (p.Thr291=)
c.950+515A>T (n.950+515A>T)
5g.179833742_179833743delinsAGCA1604334145SQSTM1c.1125_1126delinsAG (p.Thr375=)
c.873_874delinsAG (p.Thr291=)
c.950+515_950+516delinsAG (n.950+515_950+516delinsAG)
5g.179833745_179833746insTACAAGGGCA2676907576SQSTM1c.1128_1129insTACAAGGG (p.Leu377TyrfsTer4)
c.876_877insTACAAGGG (p.Leu293TyrfsTer4)
c.950+518_950+519insTACAAGGG (n.950+518_950+519insTACAAGGG)
gnomAD v4
5g.179833743G>ACA362452990SQSTM1c.1126G>A (p.Gly376Arg)
c.874G>A (p.Gly292Arg)
c.950+516G>A (n.950+516G>A)
5g.179833743G>CCA362452992SQSTM1c.1126G>C (p.Gly376Arg)
c.874G>C (p.Gly292Arg)
c.950+516G>C (n.950+516G>C)
gnomAD v4
5g.179833743G>TCA362452993SQSTM1c.1126G>T (p.Gly376Trp)
c.874G>T (p.Gly292Trp)
c.950+516G>T (n.950+516G>T)
5g.179833745delCA1139659292SQSTM1c.1128del (p.Leu377Ter)
c.876del (p.Leu293Ter)
c.950+518del (n.950+518del)
ClinVar dbSNP
5g.179833744G>ACA362452995SQSTM1c.1127G>A (p.Gly376Glu)
c.875G>A (p.Gly292Glu)
c.950+517G>A (n.950+517G>A)
gnomAD v4
5g.179833744G>CCA362452996SQSTM1c.1127G>C (p.Gly376Ala)
c.875G>C (p.Gly292Ala)
c.950+517G>C (n.950+517G>C)
dbSNP
5g.179833744G=CA1604334146SQSTM1c.1127G= (p.Gly376=)
c.875G= (p.Gly292=)
c.950+517G= (n.950+517G=)
5g.179833744G>TCA362452998SQSTM1c.1127G>T (p.Gly376Val)
c.875G>T (p.Gly292Val)
c.950+517G>T (n.950+517G>T)
5g.179833745G>ACA133109751SQSTM1c.1128G>A (p.Gly376=)
c.876G>A (p.Gly292=)
c.950+518G>A (n.950+518G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.179833745G>CCA448069949SQSTM1c.1128G>C (p.Gly376=)
c.876G>C (p.Gly292=)
c.950+518G>C (n.950+518G>C)
dbSNP gnomAD v3 gnomAD v4
5g.179833745G=CA1604334147SQSTM1c.1128G= (p.Gly376=)
c.876G= (p.Gly292=)
c.950+518G= (n.950+518G=)
5g.179833745G>TCA448069952SQSTM1c.1128G>T (p.Gly376=)
c.876G>T (p.Gly292=)
c.950+518G>T (n.950+518G>T)
5g.179833746delCA2578507796SQSTM1c.1129del (p.Leu377Ter)
c.877del (p.Leu293Ter)
c.950+519del (n.950+519del)
gnomAD v4
5g.179833746C>ACA362453001SQSTM1c.1129C>A (p.Leu377Met)
c.877C>A (p.Leu293Met)
c.950+519C>A (n.950+519C>A)
5g.179833746C=CA1604334148SQSTM1c.1129C= (p.Leu377=)
c.877C= (p.Leu293=)
c.950+519C= (n.950+519C=)
5g.179833746C>GCA3600806SQSTM1c.1129C>G (p.Leu377Val)
c.877C>G (p.Leu293Val)
c.950+519C>G (n.950+519C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833746C>TCA448069956SQSTM1c.1129C>T (p.Leu377=)
c.877C>T (p.Leu293=)
c.950+519C>T (n.950+519C>T)
5g.179833747T>ACA362453004SQSTM1c.1130T>A (p.Leu377Gln)
c.878T>A (p.Leu293Gln)
c.950+520T>A (n.950+520T>A)
5g.179833747T>CCA362453006SQSTM1c.1130T>C (p.Leu377Pro)
c.878T>C (p.Leu293Pro)
c.950+520T>C (n.950+520T>C)
5g.179833747T>GCA362453008SQSTM1c.1130T>G (p.Leu377Arg)
c.878T>G (p.Leu293Arg)
c.950+520T>G (n.950+520T>G)
5g.179833748G>ACA448069966SQSTM1c.1131G>A (p.Leu377=)
c.879G>A (p.Leu293=)
c.950+521G>A (n.950+521G>A)
5g.179833748G>CCA448069969SQSTM1c.1131G>C (p.Leu377=)
c.879G>C (p.Leu293=)
c.950+521G>C (n.950+521G>C)
5g.179833748G>TCA448069972SQSTM1c.1131G>T (p.Leu377=)
c.879G>T (p.Leu293=)
c.950+521G>T (n.950+521G>T)
5g.179833752_179833755delCA2580614811SQSTM1c.1135_1138del (p.Glu379LeufsTer15)
c.883_886del (p.Glu295LeufsTer15)
c.950+525_950+528del (n.950+525_950+528del)
ClinVar gnomAD v3 gnomAD v4
5g.179833749A=CA1604334149SQSTM1c.1132A= (p.Lys378=)
c.880A= (p.Lys294=)
c.950+522A= (n.950+522A=)
5g.179833749A>CCA362453010SQSTM1c.1132A>C (p.Lys378Gln)
c.880A>C (p.Lys294Gln)
c.950+522A>C (n.950+522A>C)
5g.179833749A>GCA362453012SQSTM1c.1132A>G (p.Lys378Glu)
c.880A>G (p.Lys294Glu)
c.950+522A>G (n.950+522A>G)
5g.179833749A>TCA346902SQSTM1c.1132A>T (p.Lys378Ter)
c.880A>T (p.Lys294Ter)
c.950+522A>T (n.950+522A>T)
ClinVar dbSNP gnomAD v4
5g.179833750A=CA1604334150SQSTM1c.1133A= (p.Lys378=)
c.881A= (p.Lys294=)
c.950+523A= (n.950+523A=)
5g.179833750A>CCA362453015SQSTM1c.1133A>C (p.Lys378Thr)
c.881A>C (p.Lys294Thr)
c.950+523A>C (n.950+523A>C)
5g.179833750A>GCA362453016SQSTM1c.1133A>G (p.Lys378Arg)
c.881A>G (p.Lys294Arg)
c.950+523A>G (n.950+523A>G)
dbSNP
5g.179833750A>TCA362453017SQSTM1c.1133A>T (p.Lys378Met)
c.881A>T (p.Lys294Met)
c.950+523A>T (n.950+523A>T)
5g.179833751G>ACA3600807SQSTM1c.1134G>A (p.Lys378=)
c.882G>A (p.Lys294=)
c.950+524G>A (n.950+524G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833751G>CCA362453020SQSTM1c.1134G>C (p.Lys378Asn)
c.882G>C (p.Lys294Asn)
c.950+524G>C (n.950+524G>C)
5g.179833751G=CA1604334151SQSTM1c.1134G= (p.Lys378=)
c.882G= (p.Lys294=)
c.950+524G= (n.950+524G=)
5g.179833751G>TCA362453021SQSTM1c.1134G>T (p.Lys378Asn)
c.882G>T (p.Lys294Asn)
c.950+524G>T (n.950+524G>T)

Number of alleles fetched