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.179833605_179833625dupCA2676907473SQSTM1c.988_1008dup (p.Asp336_Asp337insAsnCysSerGlyGlyAspAsp)
c.736_756dup (p.Asp252_Asp253insAsnCysSerGlyGlyAspAsp)
c.950+378_950+398dup (n.950+378_950+398dup)
 gnomAD v4
5g.179833618_179833620delCA3600777SQSTM1c.1001_1003del (p.Gly334del)
c.749_751del (p.Gly250del)
c.950+391_950+393del (n.950+391_950+393del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179833618G>ACA362452430SQSTM1c.1001G>A (p.Gly334Glu)
c.749G>A (p.Gly250Glu)
c.950+391G>A (n.950+391G>A)
 ClinVar gnomAD v4
5g.179833618G>CCA362452428SQSTM1c.1001G>C (p.Gly334Ala)
c.749G>C (p.Gly250Ala)
c.950+391G>C (n.950+391G>C)
5g.179833618G>TCA362452426SQSTM1c.1001G>T (p.Gly334Val)
c.749G>T (p.Gly250Val)
c.950+391G>T (n.950+391G>T)
5g.179833619A>CCA448068928SQSTM1c.1002A>C (p.Gly334=)
c.750A>C (p.Gly250=)
c.950+392A>C (n.950+392A>C)
5g.179833619A>GCA448068936SQSTM1c.1002A>G (p.Gly334=)
c.750A>G (p.Gly250=)
c.950+392A>G (n.950+392A>G)
5g.179833619A>TCA448068939SQSTM1c.1002A>T (p.Gly334=)
c.750A>T (p.Gly250=)
c.950+392A>T (n.950+392A>T)
 ClinVar gnomAD v4
5g.179833620G>ACA362452431SQSTM1c.1003G>A (p.Asp335Asn)
c.751G>A (p.Asp251Asn)
c.950+393G>A (n.950+393G>A)
5g.179833620G>CCA362452433SQSTM1c.1003G>C (p.Asp335His)
c.751G>C (p.Asp251His)
c.950+393G>C (n.950+393G>C)
5g.179833620G>TCA362452434SQSTM1c.1003G>T (p.Asp335Tyr)
c.751G>T (p.Asp251Tyr)
c.950+393G>T (n.950+393G>T)
5g.179833625_179833627dupCA2676907486SQSTM1c.1008_1010dup (p.Asp337_Trp338insAsp)
c.756_758dup (p.Asp253_Trp254insAsp)
c.950+398_950+400dup (n.950+398_950+400dup)
 gnomAD v4
5g.179833625_179833627delCA2578507792SQSTM1c.1008_1010del (p.Asp337del)
c.756_758del (p.Asp253del)
c.950+398_950+400del (n.950+398_950+400del)
 ClinVar gnomAD v4
5g.179833621A>CCA362452436SQSTM1c.1004A>C (p.Asp335Ala)
c.752A>C (p.Asp251Ala)
c.950+394A>C (n.950+394A>C)
5g.179833621A>GCA362452438SQSTM1c.1004A>G (p.Asp335Gly)
c.752A>G (p.Asp251Gly)
c.950+394A>G (n.950+394A>G)
 gnomAD v4
5g.179833621A>TCA362452440SQSTM1c.1004A>T (p.Asp335Val)
c.752A>T (p.Asp251Val)
c.950+394A>T (n.950+394A>T)
5g.179833622T>ACA362452441SQSTM1c.1005T>A (p.Asp335Glu)
c.753T>A (p.Asp251Glu)
c.950+395T>A (n.950+395T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.179833622T>CCA448068981SQSTM1c.1005T>C (p.Asp335=)
c.753T>C (p.Asp251=)
c.950+395T>C (n.950+395T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179833622T>GCA362452442SQSTM1c.1005T>G (p.Asp335Glu)
c.753T>G (p.Asp251Glu)
c.950+395T>G (n.950+395T>G)
5g.179833622T=CA1604334083SQSTM1c.1005T= (p.Asp335=)
c.753T= (p.Asp251=)
c.950+395T= (n.950+395T=)
5g.179833622_179833623insCCA2740094216SQSTM1c.1005_1006insC (p.Asp336ArgfsTer2)
c.753_754insC (p.Asp252ArgfsTer2)
c.950+395_950+396insC (n.950+395_950+396insC)
 ClinVar
5g.179833623G>ACA362452444SQSTM1c.1006G>A (p.Asp336Asn)
c.754G>A (p.Asp252Asn)
c.950+396G>A (n.950+396G>A)
 ClinVar dbSNP
5g.179833623G>CCA362452445SQSTM1c.1006G>C (p.Asp336His)
c.754G>C (p.Asp252His)
c.950+396G>C (n.950+396G>C)
5g.179833623G=CA1604334084SQSTM1c.1006G= (p.Asp336=)
c.754G= (p.Asp252=)
c.950+396G= (n.950+396G=)
5g.179833623G>TCA362452447SQSTM1c.1006G>T (p.Asp336Tyr)
c.754G>T (p.Asp252Tyr)
c.950+396G>T (n.950+396G>T)
5g.179833624A>CCA362452452SQSTM1c.1007A>C (p.Asp336Ala)
c.755A>C (p.Asp252Ala)
c.950+397A>C (n.950+397A>C)
5g.179833624A>GCA362452450SQSTM1c.1007A>G (p.Asp336Gly)
c.755A>G (p.Asp252Gly)
c.950+397A>G (n.950+397A>G)
 gnomAD v4
5g.179833624A>TCA362452449SQSTM1c.1007A>T (p.Asp336Val)
c.755A>T (p.Asp252Val)
c.950+397A>T (n.950+397A>T)
5g.179833625T>ACA362452453SQSTM1c.1008T>A (p.Asp336Glu)
c.756T>A (p.Asp252Glu)
c.950+398T>A (n.950+398T>A)
5g.179833625T>CCA133109693SQSTM1c.1008T>C (p.Asp336=)
c.756T>C (p.Asp252=)
c.950+398T>C (n.950+398T>C)
 ClinVar dbSNP
5g.179833625T>GCA362452455SQSTM1c.1008T>G (p.Asp336Glu)
c.756T>G (p.Asp252Glu)
c.950+398T>G (n.950+398T>G)
 gnomAD v4
5g.179833625T=CA1604334085SQSTM1c.1008T= (p.Asp336=)
c.756T= (p.Asp252=)
c.950+398T= (n.950+398T=)
5g.179833626G>ACA362452456SQSTM1c.1009G>A (p.Asp337Asn)
c.757G>A (p.Asp253Asn)
c.950+399G>A (n.950+399G>A)
 dbSNP
5g.179833626G>CCA362452457SQSTM1c.1009G>C (p.Asp337His)
c.757G>C (p.Asp253His)
c.950+399G>C (n.950+399G>C)
5g.179833626G=CA1604334086SQSTM1c.1009G= (p.Asp337=)
c.757G= (p.Asp253=)
c.950+399G= (n.950+399G=)
5g.179833626G>TCA362452458SQSTM1c.1009G>T (p.Asp337Tyr)
c.757G>T (p.Asp253Tyr)
c.950+399G>T (n.950+399G>T)
5g.179833627A>CCA362452460SQSTM1c.1010A>C (p.Asp337Ala)
c.758A>C (p.Asp253Ala)
c.950+400A>C (n.950+400A>C)
5g.179833627A>GCA362452462SQSTM1c.1010A>G (p.Asp337Gly)
c.758A>G (p.Asp253Gly)
c.950+400A>G (n.950+400A>G)
5g.179833627A>TCA362452463SQSTM1c.1010A>T (p.Asp337Val)
c.758A>T (p.Asp253Val)
c.950+400A>T (n.950+400A>T)
5g.179833628C>ACA362452465SQSTM1c.1011C>A (p.Asp337Glu)
c.759C>A (p.Asp253Glu)
c.950+401C>A (n.950+401C>A)
5g.179833628C=CA1604334087SQSTM1c.1011C= (p.Asp337=)
c.759C= (p.Asp253=)
c.950+401C= (n.950+401C=)
5g.179833628C>GCA362452467SQSTM1c.1011C>G (p.Asp337Glu)
c.759C>G (p.Asp253Glu)
c.950+401C>G (n.950+401C>G)
 dbSNP gnomAD v4
5g.179833628C>TCA448069035SQSTM1c.1011C>T (p.Asp337=)
c.759C>T (p.Asp253=)
c.950+401C>T (n.950+401C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.179833629T>ACA362452470SQSTM1c.1012T>A (p.Trp338Arg)
c.760T>A (p.Trp254Arg)
c.950+402T>A (n.950+402T>A)
5g.179833629T>CCA362452472SQSTM1c.1012T>C (p.Trp338Arg)
c.760T>C (p.Trp254Arg)
c.950+402T>C (n.950+402T>C)
5g.179833629T>GCA362452474SQSTM1c.1012T>G (p.Trp338Gly)
c.760T>G (p.Trp254Gly)
c.950+402T>G (n.950+402T>G)
5g.179833630G>ACA362452478SQSTM1c.1013G>A (p.Trp338Ter)
c.761G>A (p.Trp254Ter)
c.950+403G>A (n.950+403G>A)
5g.179833630G>CCA362452477SQSTM1c.1013G>C (p.Trp338Ser)
c.761G>C (p.Trp254Ser)
c.950+403G>C (n.950+403G>C)
5g.179833630G=CA1604334088SQSTM1c.1013G= (p.Trp338=)
c.761G= (p.Trp254=)
c.950+403G= (n.950+403G=)
5g.179833630G>TCA362452475SQSTM1c.1013G>T (p.Trp338Leu)
c.761G>T (p.Trp254Leu)
c.950+403G>T (n.950+403G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.179833631delCA2695205810SQSTM1c.1014del (p.Trp338Ter)
c.762del (p.Trp254Ter)
c.950+404del (n.950+404del)
5g.179833631G>ACA362452481SQSTM1c.1014G>A (p.Trp338Ter)
c.762G>A (p.Trp254Ter)
c.950+404G>A (n.950+404G>A)
 dbSNP gnomAD v4
5g.179833631G>CCA362452480SQSTM1c.1014G>C (p.Trp338Cys)
c.762G>C (p.Trp254Cys)
c.950+404G>C (n.950+404G>C)
 ClinVar
5g.179833631G=CA1604334089SQSTM1c.1014G= (p.Trp338=)
c.762G= (p.Trp254=)
c.950+404G= (n.950+404G=)
5g.179833631G>TCA362452483SQSTM1c.1014G>T (p.Trp338Cys)
c.762G>T (p.Trp254Cys)
c.950+404G>T (n.950+404G>T)
5g.179833632A>CCA362452485SQSTM1c.1015A>C (p.Thr339Pro)
c.763A>C (p.Thr255Pro)
c.950+405A>C (n.950+405A>C)
5g.179833632A>GCA362452487SQSTM1c.1015A>G (p.Thr339Ala)
c.763A>G (p.Thr255Ala)
c.950+405A>G (n.950+405A>G)
5g.179833632A>TCA362452488SQSTM1c.1015A>T (p.Thr339Ser)
c.763A>T (p.Thr255Ser)
c.950+405A>T (n.950+405A>T)
5g.179833633C>ACA362452490SQSTM1c.1016C>A (p.Thr339Asn)
c.764C>A (p.Thr255Asn)
c.950+406C>A (n.950+406C>A)
5g.179833633C>GCA362452491SQSTM1c.1016C>G (p.Thr339Ser)
c.764C>G (p.Thr255Ser)
c.950+406C>G (n.950+406C>G)
5g.179833633C>TCA362452493SQSTM1c.1016C>T (p.Thr339Ile)
c.764C>T (p.Thr255Ile)
c.950+406C>T (n.950+406C>T)
 gnomAD v4
5g.179833634C>ACA448069085SQSTM1c.1017C>A (p.Thr339=)
c.765C>A (p.Thr255=)
c.950+407C>A (n.950+407C>A)
5g.179833634C=CA1604334090SQSTM1c.1017C= (p.Thr339=)
c.765C= (p.Thr255=)
c.950+407C= (n.950+407C=)
5g.179833634C>GCA448069087SQSTM1c.1017C>G (p.Thr339=)
c.765C>G (p.Thr255=)
c.950+407C>G (n.950+407C>G)
5g.179833634C>TCA3600780SQSTM1c.1017C>T (p.Thr339=)
c.765C>T (p.Thr255=)
c.950+407C>T (n.950+407C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.179833635_179833638dupCA2578507793SQSTM1c.1018_1021dup (p.Leu341ProfsTer13)
c.766_769dup (p.Leu257ProfsTer13)
c.950+408_950+411dup (n.950+408_950+411dup)
5g.179833635C>ACA362452495SQSTM1c.1018C>A (p.His340Asn)
c.766C>A (p.His256Asn)
c.950+408C>A (n.950+408C>A)
5g.179833635C=CA1604334091SQSTM1c.1018C= (p.His340=)
c.766C= (p.His256=)
c.950+408C= (n.950+408C=)
5g.179833635C>GCA362452497SQSTM1c.1018C>G (p.His340Asp)
c.766C>G (p.His256Asp)
c.950+408C>G (n.950+408C>G)
5g.179833635C>TCA362452498SQSTM1c.1018C>T (p.His340Tyr)
c.766C>T (p.His256Tyr)
c.950+408C>T (n.950+408C>T)
 dbSNP
5g.179833636A=CA1604334092SQSTM1c.1019A= (p.His340=)
c.767A= (p.His256=)
c.950+409A= (n.950+409A=)
5g.179833636A>CCA362452500SQSTM1c.1019A>C (p.His340Pro)
c.767A>C (p.His256Pro)
c.950+409A>C (n.950+409A>C)
5g.179833636A>GCA362452502SQSTM1c.1019A>G (p.His340Arg)
c.767A>G (p.His256Arg)
c.950+409A>G (n.950+409A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.179833636A>TCA3600781SQSTM1c.1019A>T (p.His340Leu)
c.767A>T (p.His256Leu)
c.950+409A>T (n.950+409A>T)
 dbSNP ExAC gnomAD v2
5g.179833637T>ACA362452504SQSTM1c.1020T>A (p.His340Gln)
c.768T>A (p.His256Gln)
c.950+410T>A (n.950+410T>A)
5g.179833637T>CCA448069125SQSTM1c.1020T>C (p.His340=)
c.768T>C (p.His256=)
c.950+410T>C (n.950+410T>C)
 gnomAD v4
5g.179833637T>GCA362452505SQSTM1c.1020T>G (p.His340Gln)
c.768T>G (p.His256Gln)
c.950+410T>G (n.950+410T>G)
5g.179833638C>ACA362452507SQSTM1c.1021C>A (p.Leu341Met)
c.769C>A (p.Leu257Met)
c.950+411C>A (n.950+411C>A)
5g.179833638C=CA1604334093SQSTM1c.1021C= (p.Leu341=)
c.769C= (p.Leu257=)
c.950+411C= (n.950+411C=)
5g.179833638C>GCA3600782SQSTM1c.1021C>G (p.Leu341Val)
c.769C>G (p.Leu257Val)
c.950+411C>G (n.950+411C>G)
 dbSNP ExAC gnomAD v4
5g.179833638C>TCA448069136SQSTM1c.1021C>T (p.Leu341=)
c.769C>T (p.Leu257=)
c.950+411C>T (n.950+411C>T)
 gnomAD v4
5g.179833639T>ACA362452510SQSTM1c.1022T>A (p.Leu341Gln)
c.770T>A (p.Leu257Gln)
c.950+412T>A (n.950+412T>A)
5g.179833639T>CCA362452511SQSTM1c.1022T>C (p.Leu341Pro)
c.770T>C (p.Leu257Pro)
c.950+412T>C (n.950+412T>C)
5g.179833639T>GCA362452513SQSTM1c.1022T>G (p.Leu341Arg)
c.770T>G (p.Leu257Arg)
c.950+412T>G (n.950+412T>G)
5g.179833640G>ACA448069154SQSTM1c.1023G>A (p.Leu341=)
c.771G>A (p.Leu257=)
c.950+413G>A (n.950+413G>A)
 gnomAD v4
5g.179833640G>CCA448069157SQSTM1c.1023G>C (p.Leu341=)
c.771G>C (p.Leu257=)
c.950+413G>C (n.950+413G>C)
5g.179833640G>TCA448069159SQSTM1c.1023G>T (p.Leu341=)
c.771G>T (p.Leu257=)
c.950+413G>T (n.950+413G>T)
5g.179833641T>ACA362452515SQSTM1c.1024T>A (p.Ser342Thr)
c.772T>A (p.Ser258Thr)
c.950+414T>A (n.950+414T>A)
5g.179833641T>CCA362452517SQSTM1c.1024T>C (p.Ser342Pro)
c.772T>C (p.Ser258Pro)
c.950+414T>C (n.950+414T>C)
 gnomAD v4
5g.179833641T>GCA362452518SQSTM1c.1024T>G (p.Ser342Ala)
c.772T>G (p.Ser258Ala)
c.950+414T>G (n.950+414T>G)
5g.179833642C>ACA362452520SQSTM1c.1025C>A (p.Ser342Tyr)
c.773C>A (p.Ser258Tyr)
c.950+415C>A (n.950+415C>A)
5g.179833642C>GCA362452521SQSTM1c.1025C>G (p.Ser342Cys)
c.773C>G (p.Ser258Cys)
c.950+415C>G (n.950+415C>G)
5g.179833642C>TCA362452523SQSTM1c.1025C>T (p.Ser342Phe)
c.773C>T (p.Ser258Phe)
c.950+415C>T (n.950+415C>T)
5g.179833643T>ACA448069169SQSTM1c.1026T>A (p.Ser342=)
c.774T>A (p.Ser258=)
c.950+416T>A (n.950+416T>A)
5g.179833643T>CCA448069170SQSTM1c.1026T>C (p.Ser342=)
c.774T>C (p.Ser258=)
c.950+416T>C (n.950+416T>C)
5g.179833643T>GCA448069172SQSTM1c.1026T>G (p.Ser342=)
c.774T>G (p.Ser258=)
c.950+416T>G (n.950+416T>G)
5g.179833644T>ACA362452526SQSTM1c.1027T>A (p.Ser343Thr)
c.775T>A (p.Ser259Thr)
c.950+417T>A (n.950+417T>A)
5g.179833644T>CCA362452528SQSTM1c.1027T>C (p.Ser343Pro)
c.775T>C (p.Ser259Pro)
c.950+417T>C (n.950+417T>C)
5g.179833644T>GCA362452525SQSTM1c.1027T>G (p.Ser343Ala)
c.775T>G (p.Ser259Ala)
c.950+417T>G (n.950+417T>G)
5g.179833645C>ACA362452530SQSTM1c.1028C>A (p.Ser343Ter)
c.776C>A (p.Ser259Ter)
c.950+418C>A (n.950+418C>A)
5g.179833645C>GCA362452531SQSTM1c.1028C>G (p.Ser343Ter)
c.776C>G (p.Ser259Ter)
c.950+418C>G (n.950+418C>G)
5g.179833645C>TCA362452533SQSTM1c.1028C>T (p.Ser343Leu)
c.776C>T (p.Ser259Leu)
c.950+418C>T (n.950+418C>T)
5g.179833646A>CCA448069189SQSTM1c.1029A>C (p.Ser343=)
c.777A>C (p.Ser259=)
c.950+419A>C (n.950+419A>C)
5g.179833646A>GCA448069190SQSTM1c.1029A>G (p.Ser343=)
c.777A>G (p.Ser259=)
c.950+419A>G (n.950+419A>G)
5g.179833646A>TCA448069194SQSTM1c.1029A>T (p.Ser343=)
c.777A>T (p.Ser259=)
c.950+419A>T (n.950+419A>T)
5g.179833647A=CA1604334095SQSTM1c.1030A= (p.Lys344=)
c.778A= (p.Lys260=)
c.950+420A= (n.950+420A=)
5g.179833647A>CCA362452535SQSTM1c.1030A>C (p.Lys344Gln)
c.778A>C (p.Lys260Gln)
c.950+420A>C (n.950+420A>C)
 ClinVar dbSNP gnomAD v4
5g.179833647A>GCA362452537SQSTM1c.1030A>G (p.Lys344Glu)
c.778A>G (p.Lys260Glu)
c.950+420A>G (n.950+420A>G)
 dbSNP gnomAD v4
5g.179833647A>TCA362452538SQSTM1c.1030A>T (p.Lys344Ter)
c.778A>T (p.Lys260Ter)
c.950+420A>T (n.950+420A>T)
5g.179833647_179833650delinsAAAGCA1604334094SQSTM1c.1030_1033delinsAAAG (p.Lys344=)
c.778_781delinsAAAG (p.Lys260=)
c.950+420_950+423delinsAAAG (n.950+420_950+423delinsAAAG)
5g.179833648A>CCA362452541SQSTM1c.1031A>C (p.Lys344Thr)
c.779A>C (p.Lys260Thr)
c.950+421A>C (n.950+421A>C)
5g.179833648A>GCA362452542SQSTM1c.1031A>G (p.Lys344Arg)
c.779A>G (p.Lys260Arg)
c.950+421A>G (n.950+421A>G)
5g.179833648A>TCA362452544SQSTM1c.1031A>T (p.Lys344Ile)
c.779A>T (p.Lys260Ile)
c.950+421A>T (n.950+421A>T)
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.179833649A=CA1604334096SQSTM1c.1032A= (p.Lys344=)
c.780A= (p.Lys260=)
c.950+422A= (n.950+422A=)
5g.179833649A>CCA362452546SQSTM1c.1032A>C (p.Lys344Asn)
c.780A>C (p.Lys260Asn)
c.950+422A>C (n.950+422A>C)
5g.179833649A>GCA133109702SQSTM1c.1032A>G (p.Lys344=)
c.780A>G (p.Lys260=)
c.950+422A>G (n.950+422A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179833649A>TCA362452548SQSTM1c.1032A>T (p.Lys344Asn)
c.780A>T (p.Lys260Asn)
c.950+422A>T (n.950+422A>T)
5g.179833650G>ACA362452551SQSTM1c.1033G>A (p.Glu345Lys)
c.781G>A (p.Glu261Lys)
c.950+423G>A (n.950+423G>A)
 COSMIC
5g.179833650G>CCA362452553SQSTM1c.1033G>C (p.Glu345Gln)
c.781G>C (p.Glu261Gln)
c.950+423G>C (n.950+423G>C)
5g.179833650G>TCA362452549SQSTM1c.1033G>T (p.Glu345Ter)
c.781G>T (p.Glu261Ter)
c.950+423G>T (n.950+423G>T)
 gnomAD v4
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

Number of alleles fetched