Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.179833588_179833783del | CA340742 | SQSTM1 | c.971_1165+1del c.719_913+1del c.950+361_950+556del (n.950+361_950+556del) | |
5 | g.179833664_179833665delinsTA | CA1604334106 | SQSTM1 | c.1047_1048delinsTA (p.Ser349=) c.795_796delinsTA (p.Ser265=) c.950+437_950+438delinsTA (n.950+437_950+438delinsTA) | |
5 | g.179833665del | CA3600789 | SQSTM1 | c.1048del (p.Thr350GlnfsTer28) c.796del (p.Thr266GlnfsTer28) c.950+438del (n.950+438del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833665A>C | CA362452612 | SQSTM1 | c.1048A>C (p.Thr350Pro) c.796A>C (p.Thr266Pro) c.950+438A>C (n.950+438A>C) | |
5 | g.179833665A>G | CA362452607 | SQSTM1 | c.1048A>G (p.Thr350Ala) c.796A>G (p.Thr266Ala) c.950+438A>G (n.950+438A>G) | |
5 | g.179833665A>T | CA362452611 | SQSTM1 | c.1048A>T (p.Thr350Ser) c.796A>T (p.Thr266Ser) c.950+438A>T (n.950+438A>T) | |
5 | g.179833666C>A | CA362452615 | SQSTM1 | c.1049C>A (p.Thr350Lys) c.797C>A (p.Thr266Lys) c.950+439C>A (n.950+439C>A) | |
5 | g.179833666C>G | CA362452618 | SQSTM1 | c.1049C>G (p.Thr350Arg) c.797C>G (p.Thr266Arg) c.950+439C>G (n.950+439C>G) | ClinVar gnomAD v4 |
5 | g.179833666C>T | CA362452621 | SQSTM1 | c.1049C>T (p.Thr350Ile) c.797C>T (p.Thr266Ile) c.950+439C>T (n.950+439C>T) | |
5 | g.179833667A>C | CA448069367 | SQSTM1 | c.1050A>C (p.Thr350=) c.798A>C (p.Thr266=) c.950+440A>C (n.950+440A>C) | ClinVar dbSNP gnomAD v4 |
5 | g.179833667A>G | CA448069359 | SQSTM1 | c.1050A>G (p.Thr350=) c.798A>G (p.Thr266=) c.950+440A>G (n.950+440A>G) | |
5 | g.179833667A>T | CA448069365 | SQSTM1 | c.1050A>T (p.Thr350=) c.798A>T (p.Thr266=) c.950+440A>T (n.950+440A>T) | |
5 | g.179833668G>A | CA362452624 | SQSTM1 | c.1051G>A (p.Gly351Ser) c.799G>A (p.Gly267Ser) c.950+441G>A (n.950+441G>A) | |
5 | g.179833668G>C | CA362452625 | SQSTM1 | c.1051G>C (p.Gly351Arg) c.799G>C (p.Gly267Arg) c.950+441G>C (n.950+441G>C) | |
5 | g.179833668G>T | CA362452627 | SQSTM1 | c.1051G>T (p.Gly351Cys) c.799G>T (p.Gly267Cys) c.950+441G>T (n.950+441G>T) | |
5 | g.179833669G>A | CA362452630 | SQSTM1 | c.1052G>A (p.Gly351Asp) c.800G>A (p.Gly267Asp) c.950+442G>A (n.950+442G>A) | |
5 | g.179833669G>C | CA362452633 | SQSTM1 | c.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 |
5 | g.179833669G= | CA1604334107 | SQSTM1 | c.1052G= (p.Gly351=) c.800G= (p.Gly267=) c.950+442G= (n.950+442G=) | |
5 | g.179833669G>T | CA362452636 | SQSTM1 | c.1052G>T (p.Gly351Val) c.800G>T (p.Gly267Val) c.950+442G>T (n.950+442G>T) | |
5 | g.179833670T>A | CA448069379 | SQSTM1 | c.1053T>A (p.Gly351=) c.801T>A (p.Gly267=) c.950+443T>A (n.950+443T>A) | |
5 | g.179833670T>C | CA448069380 | SQSTM1 | c.1053T>C (p.Gly351=) c.801T>C (p.Gly267=) c.950+443T>C (n.950+443T>C) | |
5 | g.179833670T>G | CA448069381 | SQSTM1 | c.1053T>G (p.Gly351=) c.801T>G (p.Gly267=) c.950+443T>G (n.950+443T>G) | |
5 | g.179833671G>A | CA362452638 | SQSTM1 | c.1054G>A (p.Glu352Lys) c.802G>A (p.Glu268Lys) c.950+444G>A (n.950+444G>A) | |
5 | g.179833671G>C | CA362452641 | SQSTM1 | c.1054G>C (p.Glu352Gln) c.802G>C (p.Glu268Gln) c.950+444G>C (n.950+444G>C) | ClinVar dbSNP |
5 | g.179833671G= | CA1604334108 | SQSTM1 | c.1054G= (p.Glu352=) c.802G= (p.Glu268=) c.950+444G= (n.950+444G=) | |
5 | g.179833671G>T | CA133109718 | SQSTM1 | c.1054G>T (p.Glu352Ter) c.802G>T (p.Glu268Ter) c.950+444G>T (n.950+444G>T) | ClinVar dbSNP gnomAD v4 |
5 | g.179833672A>C | CA362452643 | SQSTM1 | c.1055A>C (p.Glu352Ala) c.803A>C (p.Glu268Ala) c.950+445A>C (n.950+445A>C) | |
5 | g.179833672A>G | CA362452648 | SQSTM1 | c.1055A>G (p.Glu352Gly) c.803A>G (p.Glu268Gly) c.950+445A>G (n.950+445A>G) | |
5 | g.179833672A>T | CA362452646 | SQSTM1 | c.1055A>T (p.Glu352Val) c.803A>T (p.Glu268Val) c.950+445A>T (n.950+445A>T) | ClinVar |
5 | g.179833673A>C | CA362452650 | SQSTM1 | c.1056A>C (p.Glu352Asp) c.804A>C (p.Glu268Asp) c.950+446A>C (n.950+446A>C) | gnomAD v4 |
5 | g.179833673A>G | CA448069401 | SQSTM1 | c.1056A>G (p.Glu352=) c.804A>G (p.Glu268=) c.950+446A>G (n.950+446A>G) | |
5 | g.179833673A>T | CA362452652 | SQSTM1 | c.1056A>T (p.Glu352Asp) c.804A>T (p.Glu268Asp) c.950+446A>T (n.950+446A>T) | |
5 | g.179833674C>A | CA362452656 | SQSTM1 | c.1057C>A (p.Leu353Ile) c.805C>A (p.Leu269Ile) c.950+447C>A (n.950+447C>A) | |
5 | g.179833674C>G | CA362452657 | SQSTM1 | c.1057C>G (p.Leu353Val) c.805C>G (p.Leu269Val) c.950+447C>G (n.950+447C>G) | |
5 | g.179833674C>T | CA362452660 | SQSTM1 | c.1057C>T (p.Leu353Phe) c.805C>T (p.Leu269Phe) c.950+447C>T (n.950+447C>T) | gnomAD v4 |
5 | g.179833675T>A | CA362452664 | SQSTM1 | c.1058T>A (p.Leu353His) c.806T>A (p.Leu269His) c.950+448T>A (n.950+448T>A) | |
5 | g.179833675T>C | CA362452666 | SQSTM1 | c.1058T>C (p.Leu353Pro) c.806T>C (p.Leu269Pro) c.950+448T>C (n.950+448T>C) | ClinVar gnomAD v4 |
5 | g.179833675T>G | CA362452668 | SQSTM1 | c.1058T>G (p.Leu353Arg) c.806T>G (p.Leu269Arg) c.950+448T>G (n.950+448T>G) | |
5 | g.179833675_179833676delinsTC | CA1604334109 | SQSTM1 | c.1058_1059delinsTC (p.Leu353=) c.806_807delinsTC (p.Leu269=) c.950+448_950+449delinsTC (n.950+448_950+449delinsTC) | |
5 | g.179833676C>A | CA448069420 | SQSTM1 | c.1059C>A (p.Leu353=) c.807C>A (p.Leu269=) c.950+449C>A (n.950+449C>A) | |
5 | g.179833676C= | CA1604334111 | SQSTM1 | c.1059C= (p.Leu353=) c.807C= (p.Leu269=) c.950+449C= (n.950+449C=) | |
5 | g.179833676C>G | CA448069423 | SQSTM1 | c.1059C>G (p.Leu353=) c.807C>G (p.Leu269=) c.950+449C>G (n.950+449C>G) | |
5 | g.179833676C>T | CA448069424 | SQSTM1 | c.1059C>T (p.Leu353=) c.807C>T (p.Leu269=) c.950+449C>T (n.950+449C>T) | dbSNP gnomAD v4 |
5 | g.179833677del | CA1085049772 | SQSTM1 | c.1060del (p.Gln354SerfsTer24) c.808del (p.Gln270SerfsTer24) c.950+450del (n.950+450del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833676_179833678delinsCCA | CA1604334110 | SQSTM1 | c.1059_1061delinsCCA (p.Leu353=) c.807_809delinsCCA (p.Leu269=) c.950+449_950+451delinsCCA (n.950+449_950+451delinsCCA) | |
5 | g.179833677C>A | CA362452672 | SQSTM1 | c.1060C>A (p.Gln354Lys) c.808C>A (p.Gln270Lys) c.950+450C>A (n.950+450C>A) | ClinVar gnomAD v4 |
5 | g.179833677C>G | CA362452674 | SQSTM1 | c.1060C>G (p.Gln354Glu) c.808C>G (p.Gln270Glu) c.950+450C>G (n.950+450C>G) | |
5 | g.179833677C>T | CA362452677 | SQSTM1 | c.1060C>T (p.Gln354Ter) c.808C>T (p.Gln270Ter) c.950+450C>T (n.950+450C>T) | |
5 | g.179833677_179833678del | CA3600790 | SQSTM1 | c.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 |
5 | g.179833678A>C | CA362452690 | SQSTM1 | c.1061A>C (p.Gln354Pro) c.809A>C (p.Gln270Pro) c.950+451A>C (n.950+451A>C) | |
5 | g.179833678A>G | CA362452691 | SQSTM1 | c.1061A>G (p.Gln354Arg) c.809A>G (p.Gln270Arg) c.950+451A>G (n.950+451A>G) | gnomAD v4 |
5 | g.179833678A>T | CA362452688 | SQSTM1 | c.1061A>T (p.Gln354Leu) c.809A>T (p.Gln270Leu) c.950+451A>T (n.950+451A>T) | |
5 | g.179833679G>A | CA448069437 | SQSTM1 | c.1062G>A (p.Gln354=) c.810G>A (p.Gln270=) c.950+452G>A (n.950+452G>A) | |
5 | g.179833679G>C | CA133109719 | SQSTM1 | c.1062G>C (p.Gln354His) c.810G>C (p.Gln270His) c.950+452G>C (n.950+452G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833679G= | CA1604334112 | SQSTM1 | c.1062G= (p.Gln354=) c.810G= (p.Gln270=) c.950+452G= (n.950+452G=) | |
5 | g.179833679G>T | CA362452695 | SQSTM1 | c.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 |
5 | g.179833680T>A | CA362452699 | SQSTM1 | c.1063T>A (p.Ser355Thr) c.811T>A (p.Ser271Thr) c.950+453T>A (n.950+453T>A) | |
5 | g.179833680T>C | CA362452701 | SQSTM1 | c.1063T>C (p.Ser355Pro) c.811T>C (p.Ser271Pro) c.950+453T>C (n.950+453T>C) | |
5 | g.179833680T>G | CA362452703 | SQSTM1 | c.1063T>G (p.Ser355Ala) c.811T>G (p.Ser271Ala) c.950+453T>G (n.950+453T>G) | |
5 | g.179833681C>A | CA362452710 | SQSTM1 | c.1064C>A (p.Ser355Tyr) c.812C>A (p.Ser271Tyr) c.950+454C>A (n.950+454C>A) | |
5 | g.179833681C= | CA1604334113 | SQSTM1 | c.1064C= (p.Ser355=) c.812C= (p.Ser271=) c.950+454C= (n.950+454C=) | |
5 | g.179833681C>G | CA362452706 | SQSTM1 | c.1064C>G (p.Ser355Cys) c.812C>G (p.Ser271Cys) c.950+454C>G (n.950+454C>G) | |
5 | g.179833681C>T | CA362452709 | SQSTM1 | c.1064C>T (p.Ser355Phe) c.812C>T (p.Ser271Phe) c.950+454C>T (n.950+454C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833682C>A | CA448069465 | SQSTM1 | c.1065C>A (p.Ser355=) c.813C>A (p.Ser271=) c.950+455C>A (n.950+455C>A) | |
5 | g.179833682C>G | CA448069467 | SQSTM1 | c.1065C>G (p.Ser355=) c.813C>G (p.Ser271=) c.950+455C>G (n.950+455C>G) | |
5 | g.179833682C>T | CA448069471 | SQSTM1 | c.1065C>T (p.Ser355=) c.813C>T (p.Ser271=) c.950+455C>T (n.950+455C>T) | |
5 | g.179833683C>A | CA362452712 | SQSTM1 | c.1066C>A (p.Leu356Ile) c.814C>A (p.Leu272Ile) c.950+456C>A (n.950+456C>A) | |
5 | g.179833683C>G | CA362452715 | SQSTM1 | c.1066C>G (p.Leu356Val) c.814C>G (p.Leu272Val) c.950+456C>G (n.950+456C>G) | |
5 | g.179833683C>T | CA448069475 | SQSTM1 | c.1066C>T (p.Leu356=) c.814C>T (p.Leu272=) c.950+456C>T (n.950+456C>T) | gnomAD v4 |
5 | g.179833684T>A | CA362452716 | SQSTM1 | c.1067T>A (p.Leu356Gln) c.815T>A (p.Leu272Gln) c.950+457T>A (n.950+457T>A) | |
5 | g.179833684T>C | CA362452719 | SQSTM1 | c.1067T>C (p.Leu356Pro) c.815T>C (p.Leu272Pro) c.950+457T>C (n.950+457T>C) | |
5 | g.179833684T>G | CA362452720 | SQSTM1 | c.1067T>G (p.Leu356Arg) c.815T>G (p.Leu272Arg) c.950+457T>G (n.950+457T>G) | |
5 | g.179833685A>C | CA448069495 | SQSTM1 | c.1068A>C (p.Leu356=) c.816A>C (p.Leu272=) c.950+458A>C (n.950+458A>C) | |
5 | g.179833685A>G | CA448069498 | SQSTM1 | c.1068A>G (p.Leu356=) c.816A>G (p.Leu272=) c.950+458A>G (n.950+458A>G) | |
5 | g.179833685A>T | CA448069505 | SQSTM1 | c.1068A>T (p.Leu356=) c.816A>T (p.Leu272=) c.950+458A>T (n.950+458A>T) | |
5 | g.179833686C>A | CA362452723 | SQSTM1 | c.1069C>A (p.Gln357Lys) c.817C>A (p.Gln273Lys) c.950+459C>A (n.950+459C>A) | |
5 | g.179833686C>G | CA362452727 | SQSTM1 | c.1069C>G (p.Gln357Glu) c.817C>G (p.Gln273Glu) c.950+459C>G (n.950+459C>G) | ClinVar dbSNP |
5 | g.179833686C>T | CA362452724 | SQSTM1 | c.1069C>T (p.Gln357Ter) c.817C>T (p.Gln273Ter) c.950+459C>T (n.950+459C>T) | |
5 | g.179833687A= | CA1604334114 | SQSTM1 | c.1070A= (p.Gln357=) c.818A= (p.Gln273=) c.950+460A= (n.950+460A=) | |
5 | g.179833687A>C | CA362452729 | SQSTM1 | c.1070A>C (p.Gln357Pro) c.818A>C (p.Gln273Pro) c.950+460A>C (n.950+460A>C) | |
5 | g.179833687A>G | CA362452734 | SQSTM1 | c.1070A>G (p.Gln357Arg) c.818A>G (p.Gln273Arg) c.950+460A>G (n.950+460A>G) | ClinVar gnomAD v4 |
5 | g.179833687A>T | CA362452732 | SQSTM1 | c.1070A>T (p.Gln357Leu) c.818A>T (p.Gln273Leu) c.950+460A>T (n.950+460A>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833688G>A | CA133109720 | SQSTM1 | c.1071G>A (p.Gln357=) c.819G>A (p.Gln273=) c.950+461G>A (n.950+461G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179833688G>C | CA362452736 | SQSTM1 | c.1071G>C (p.Gln357His) c.819G>C (p.Gln273His) c.950+461G>C (n.950+461G>C) | |
5 | g.179833688G= | CA1604334115 | SQSTM1 | c.1071G= (p.Gln357=) c.819G= (p.Gln273=) c.950+461G= (n.950+461G=) | |
5 | g.179833688G>T | CA362452739 | SQSTM1 | c.1071G>T (p.Gln357His) c.819G>T (p.Gln273His) c.950+461G>T (n.950+461G>T) | ClinVar dbSNP |
5 | g.179833689A>C | CA362452743 | SQSTM1 | c.1072A>C (p.Met358Leu) c.820A>C (p.Met274Leu) c.950+462A>C (n.950+462A>C) | |
5 | g.179833689A>G | CA362452745 | SQSTM1 | c.1072A>G (p.Met358Val) c.820A>G (p.Met274Val) c.950+462A>G (n.950+462A>G) | ClinVar dbSNP |
5 | g.179833689A>T | CA362452747 | SQSTM1 | c.1072A>T (p.Met358Leu) c.820A>T (p.Met274Leu) c.950+462A>T (n.950+462A>T) | |
5 | g.179833690T>A | CA362452750 | SQSTM1 | c.1073T>A (p.Met358Lys) c.821T>A (p.Met274Lys) c.950+463T>A (n.950+463T>A) | |
5 | g.179833690T>C | CA362452752 | SQSTM1 | c.1073T>C (p.Met358Thr) c.821T>C (p.Met274Thr) c.950+463T>C (n.950+463T>C) | |
5 | g.179833690T>G | CA362452754 | SQSTM1 | c.1073T>G (p.Met358Arg) c.821T>G (p.Met274Arg) c.950+463T>G (n.950+463T>G) | |
5 | g.179833691G>A | CA133109721 | SQSTM1 | c.1074G>A (p.Met358Ile) c.822G>A (p.Met274Ile) c.950+464G>A (n.950+464G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833691G>C | CA362452758 | SQSTM1 | c.1074G>C (p.Met358Ile) c.822G>C (p.Met274Ile) c.950+464G>C (n.950+464G>C) | |
5 | g.179833691G= | CA1604334116 | SQSTM1 | c.1074G= (p.Met358=) c.822G= (p.Met274=) c.950+464G= (n.950+464G=) | |
5 | g.179833691G>T | CA362452760 | SQSTM1 | c.1074G>T (p.Met358Ile) c.822G>T (p.Met274Ile) c.950+464G>T (n.950+464G>T) | |
5 | g.179833692C>A | CA362452765 | SQSTM1 | c.1075C>A (p.Pro359Thr) c.823C>A (p.Pro275Thr) c.950+465C>A (n.950+465C>A) | |
5 | g.179833692C= | CA1604334117 | SQSTM1 | c.1075C= (p.Pro359=) c.823C= (p.Pro275=) c.950+465C= (n.950+465C=) | |
5 | g.179833692C>G | CA362452763 | SQSTM1 | c.1075C>G (p.Pro359Ala) c.823C>G (p.Pro275Ala) c.950+465C>G (n.950+465C>G) | |
5 | g.179833692C>T | CA3600791 | SQSTM1 | c.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 |
5 | g.179833693C>A | CA362452768 | SQSTM1 | c.1076C>A (p.Pro359Gln) c.824C>A (p.Pro275Gln) c.950+466C>A (n.950+466C>A) | |
5 | g.179833693C>G | CA362452771 | SQSTM1 | c.1076C>G (p.Pro359Arg) c.824C>G (p.Pro275Arg) c.950+466C>G (n.950+466C>G) | |
5 | g.179833693C>T | CA362452774 | SQSTM1 | c.1076C>T (p.Pro359Leu) c.824C>T (p.Pro275Leu) c.950+466C>T (n.950+466C>T) | gnomAD v4 |
5 | g.179833694A= | CA1604334118 | SQSTM1 | c.1077A= (p.Pro359=) c.825A= (p.Pro275=) c.950+467A= (n.950+467A=) | |
5 | g.179833694A>C | CA448069559 | SQSTM1 | c.1077A>C (p.Pro359=) c.825A>C (p.Pro275=) c.950+467A>C (n.950+467A>C) | |
5 | g.179833694A>G | CA3600792 | SQSTM1 | c.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 |
5 | g.179833694A>T | CA448069565 | SQSTM1 | c.1077A>T (p.Pro359=) c.825A>T (p.Pro275=) c.950+467A>T (n.950+467A>T) | |
5 | g.179833695G>A | CA362452779 | SQSTM1 | c.1078G>A (p.Glu360Lys) c.826G>A (p.Glu276Lys) c.950+468G>A (n.950+468G>A) | COSMIC |
5 | g.179833695G>C | CA362452782 | SQSTM1 | c.1078G>C (p.Glu360Gln) c.826G>C (p.Glu276Gln) c.950+468G>C (n.950+468G>C) | dbSNP |
5 | g.179833695G= | CA1604334119 | SQSTM1 | c.1078G= (p.Glu360=) c.826G= (p.Glu276=) c.950+468G= (n.950+468G=) | |
5 | g.179833695G>T | CA362452785 | SQSTM1 | c.1078G>T (p.Glu360Ter) c.826G>T (p.Glu276Ter) c.950+468G>T (n.950+468G>T) | |
5 | g.179833696A>C | CA362452788 | SQSTM1 | c.1079A>C (p.Glu360Ala) c.827A>C (p.Glu276Ala) c.950+469A>C (n.950+469A>C) | |
5 | g.179833696A>G | CA362452789 | SQSTM1 | c.1079A>G (p.Glu360Gly) c.827A>G (p.Glu276Gly) c.950+469A>G (n.950+469A>G) | |
5 | g.179833696A>T | CA362452792 | SQSTM1 | c.1079A>T (p.Glu360Val) c.827A>T (p.Glu276Val) c.950+469A>T (n.950+469A>T) | |
5 | g.179833697A= | CA1604334120 | SQSTM1 | c.1080A= (p.Glu360=) c.828A= (p.Glu276=) c.950+470A= (n.950+470A=) | |
5 | g.179833697A>C | CA362452795 | SQSTM1 | c.1080A>C (p.Glu360Asp) c.828A>C (p.Glu276Asp) c.950+470A>C (n.950+470A>C) | |
5 | g.179833697A>G | CA448069582 | SQSTM1 | c.1080A>G (p.Glu360=) c.828A>G (p.Glu276=) c.950+470A>G (n.950+470A>G) | dbSNP |
5 | g.179833697A>T | CA362452797 | SQSTM1 | c.1080A>T (p.Glu360Asp) c.828A>T (p.Glu276Asp) c.950+470A>T (n.950+470A>T) | |
5 | g.179833698T>A | CA362452806 | SQSTM1 | c.1081T>A (p.Ser361Thr) c.829T>A (p.Ser277Thr) c.950+471T>A (n.950+471T>A) | |
5 | g.179833698T>C | CA362452803 | SQSTM1 | c.1081T>C (p.Ser361Pro) c.829T>C (p.Ser277Pro) c.950+471T>C (n.950+471T>C) | |
5 | g.179833698T>G | CA362452801 | SQSTM1 | c.1081T>G (p.Ser361Ala) c.829T>G (p.Ser277Ala) c.950+471T>G (n.950+471T>G) | ClinVar |
5 | g.179833699C>A | CA362452808 | SQSTM1 | c.1082C>A (p.Ser361Tyr) c.830C>A (p.Ser277Tyr) c.950+472C>A (n.950+472C>A) | |
5 | g.179833699C>G | CA362452813 | SQSTM1 | c.1082C>G (p.Ser361Cys) c.830C>G (p.Ser277Cys) c.950+472C>G (n.950+472C>G) | |
5 | g.179833699C>T | CA362452815 | SQSTM1 | c.1082C>T (p.Ser361Phe) c.830C>T (p.Ser277Phe) c.950+472C>T (n.950+472C>T) | gnomAD v4 |
5 | g.179833700C>A | CA448069604 | SQSTM1 | c.1083C>A (p.Ser361=) c.831C>A (p.Ser277=) c.950+473C>A (n.950+473C>A) | |
5 | g.179833700C= | CA1604334121 | SQSTM1 | c.1083C= (p.Ser361=) c.831C= (p.Ser277=) c.950+473C= (n.950+473C=) | |
5 | g.179833700C>G | CA448069607 | SQSTM1 | c.1083C>G (p.Ser361=) c.831C>G (p.Ser277=) c.950+473C>G (n.950+473C>G) | gnomAD v4 |
5 | g.179833700C>T | CA3600793 | SQSTM1 | c.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 |
5 | g.179833701G>A | CA3600794 | SQSTM1 | c.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 |
5 | g.179833701G>C | CA362452822 | SQSTM1 | c.1084G>C (p.Glu362Gln) c.832G>C (p.Glu278Gln) c.950+474G>C (n.950+474G>C) | |
5 | g.179833701G= | CA1604334122 | SQSTM1 | c.1084G= (p.Glu362=) c.832G= (p.Glu278=) c.950+474G= (n.950+474G=) | |
5 | g.179833701G>T | CA362452824 | SQSTM1 | c.1084G>T (p.Glu362Ter) c.832G>T (p.Glu278Ter) c.950+474G>T (n.950+474G>T) | |
5 | g.179833702A>C | CA362452827 | SQSTM1 | c.1085A>C (p.Glu362Ala) c.833A>C (p.Glu278Ala) c.950+475A>C (n.950+475A>C) | |
5 | g.179833702A>G | CA362452829 | SQSTM1 | c.1085A>G (p.Glu362Gly) c.833A>G (p.Glu278Gly) c.950+475A>G (n.950+475A>G) | |
5 | g.179833702A>T | CA362452836 | SQSTM1 | c.1085A>T (p.Glu362Val) c.833A>T (p.Glu278Val) c.950+475A>T (n.950+475A>T) | |
5 | g.179833703A>C | CA362452841 | SQSTM1 | c.1086A>C (p.Glu362Asp) c.834A>C (p.Glu278Asp) c.950+476A>C (n.950+476A>C) | |
5 | g.179833703A>G | CA448069617 | SQSTM1 | c.1086A>G (p.Glu362=) c.834A>G (p.Glu278=) c.950+476A>G (n.950+476A>G) | |
5 | g.179833703A>T | CA362452843 | SQSTM1 | c.1086A>T (p.Glu362Asp) c.834A>T (p.Glu278Asp) c.950+476A>T (n.950+476A>T) | |
5 | g.179833704G>A | CA362452850 | SQSTM1 | c.1087G>A (p.Gly363Arg) c.835G>A (p.Gly279Arg) c.950+477G>A (n.950+477G>A) | ClinVar gnomAD v4 |
5 | g.179833704G>C | CA362452848 | SQSTM1 | c.1087G>C (p.Gly363Arg) c.835G>C (p.Gly279Arg) c.950+477G>C (n.950+477G>C) | gnomAD v4 |
5 | g.179833704G>T | CA362452846 | SQSTM1 | c.1087G>T (p.Gly363Trp) c.835G>T (p.Gly279Trp) c.950+477G>T (n.950+477G>T) | |
5 | g.179833706del | CA2695205811 | SQSTM1 | c.1089del (p.Pro364GlnfsTer14) c.837del (p.Pro280GlnfsTer14) c.950+479del (n.950+479del) | |
5 | g.179833705G>A | CA3600795 | SQSTM1 | c.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 |
5 | g.179833705G>C | CA362452854 | SQSTM1 | c.1088G>C (p.Gly363Ala) c.836G>C (p.Gly279Ala) c.950+478G>C (n.950+478G>C) | |
5 | g.179833705G= | CA1604334123 | SQSTM1 | c.1088G= (p.Gly363=) c.836G= (p.Gly279=) c.950+478G= (n.950+478G=) | |
5 | g.179833705G>T | CA362452856 | SQSTM1 | c.1088G>T (p.Gly363Val) c.836G>T (p.Gly279Val) c.950+478G>T (n.950+478G>T) | |
5 | g.179833705_179833707del | CA2676907543 | SQSTM1 | c.1088_1090del (p.Gly363_Pro364delinsAla) c.836_838del (p.Gly279_Pro280delinsAla) c.950+478_950+480del (n.950+478_950+480del) | gnomAD v4 |
5 | g.179833706G>A | CA448069646 | SQSTM1 | c.1089G>A (p.Gly363=) c.837G>A (p.Gly279=) c.950+479G>A (n.950+479G>A) | ClinVar dbSNP |
5 | g.179833706G>C | CA448069648 | SQSTM1 | c.1089G>C (p.Gly363=) c.837G>C (p.Gly279=) c.950+479G>C (n.950+479G>C) | |
5 | g.179833706G>T | CA448069651 | SQSTM1 | c.1089G>T (p.Gly363=) c.837G>T (p.Gly279=) c.950+479G>T (n.950+479G>T) | |
5 | g.179833707C>A | CA362452859 | SQSTM1 | c.1090C>A (p.Pro364Thr) c.838C>A (p.Pro280Thr) c.950+480C>A (n.950+480C>A) | |
5 | g.179833707C= | CA1604334124 | SQSTM1 | c.1090C= (p.Pro364=) c.838C= (p.Pro280=) c.950+480C= (n.950+480C=) | |
5 | g.179833707C>G | CA362452860 | SQSTM1 | c.1090C>G (p.Pro364Ala) c.838C>G (p.Pro280Ala) c.950+480C>G (n.950+480C>G) | |
5 | g.179833707C>T | CA3600796 | SQSTM1 | c.1090C>T (p.Pro364Ser) c.838C>T (p.Pro280Ser) c.950+480C>T (n.950+480C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833708C>A | CA362452864 | SQSTM1 | c.1091C>A (p.Pro364Gln) c.839C>A (p.Pro280Gln) c.950+481C>A (n.950+481C>A) | |
5 | g.179833708C>G | CA362452866 | SQSTM1 | c.1091C>G (p.Pro364Arg) c.839C>G (p.Pro280Arg) c.950+481C>G (n.950+481C>G) | |
5 | g.179833708C>T | CA362452868 | SQSTM1 | c.1091C>T (p.Pro364Leu) c.839C>T (p.Pro280Leu) c.950+481C>T (n.950+481C>T) | |
5 | g.179833709A= | CA1604334125 | SQSTM1 | c.1092A= (p.Pro364=) c.840A= (p.Pro280=) c.950+482A= (n.950+482A=) | |
5 | g.179833709A>C | CA448069668 | SQSTM1 | c.1092A>C (p.Pro364=) c.840A>C (p.Pro280=) c.950+482A>C (n.950+482A>C) | |
5 | g.179833709A>G | CA448069671 | SQSTM1 | c.1092A>G (p.Pro364=) c.840A>G (p.Pro280=) c.950+482A>G (n.950+482A>G) | dbSNP gnomAD v4 |
5 | g.179833709A>T | CA448069695 | SQSTM1 | c.1092A>T (p.Pro364=) c.840A>T (p.Pro280=) c.950+482A>T (n.950+482A>T) | |
5 | g.179833710A>C | CA362452871 | SQSTM1 | c.1093A>C (p.Ser365Arg) c.841A>C (p.Ser281Arg) c.950+483A>C (n.950+483A>C) | |
5 | g.179833710A>G | CA362452873 | SQSTM1 | c.1093A>G (p.Ser365Gly) c.841A>G (p.Ser281Gly) c.950+483A>G (n.950+483A>G) | |
5 | g.179833710A>T | CA362452875 | SQSTM1 | c.1093A>T (p.Ser365Cys) c.841A>T (p.Ser281Cys) c.950+483A>T (n.950+483A>T) | |
5 | g.179833711G>A | CA3600797 | SQSTM1 | c.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 |
5 | g.179833711G>C | CA362452878 | SQSTM1 | c.1094G>C (p.Ser365Thr) c.842G>C (p.Ser281Thr) c.950+484G>C (n.950+484G>C) | |
5 | g.179833711G= | CA1604334126 | SQSTM1 | c.1094G= (p.Ser365=) c.842G= (p.Ser281=) c.950+484G= (n.950+484G=) | |
5 | g.179833711G>T | CA362452877 | SQSTM1 | c.1094G>T (p.Ser365Ile) c.842G>T (p.Ser281Ile) c.950+484G>T (n.950+484G>T) | |
5 | g.179833712C>A | CA362452879 | SQSTM1 | c.1095C>A (p.Ser365Arg) c.843C>A (p.Ser281Arg) c.950+485C>A (n.950+485C>A) | gnomAD v4 |
5 | g.179833712C= | CA1604334127 | SQSTM1 | c.1095C= (p.Ser365=) c.843C= (p.Ser281=) c.950+485C= (n.950+485C=) | |
5 | g.179833712C>G | CA362452880 | SQSTM1 | c.1095C>G (p.Ser365Arg) c.843C>G (p.Ser281Arg) c.950+485C>G (n.950+485C>G) | |
5 | g.179833712C>T | CA3600798 | SQSTM1 | c.1095C>T (p.Ser365=) c.843C>T (p.Ser281=) c.950+485C>T (n.950+485C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833713T>A | CA362452882 | SQSTM1 | c.1096T>A (p.Ser366Thr) c.844T>A (p.Ser282Thr) c.950+486T>A (n.950+486T>A) | |
5 | g.179833713T>C | CA362452886 | SQSTM1 | c.1096T>C (p.Ser366Pro) c.844T>C (p.Ser282Pro) c.950+486T>C (n.950+486T>C) | |
5 | g.179833713T>G | CA362452884 | SQSTM1 | c.1096T>G (p.Ser366Ala) c.844T>G (p.Ser282Ala) c.950+486T>G (n.950+486T>G) | gnomAD v4 |
5 | g.179833714C>A | CA362452890 | SQSTM1 | c.1097C>A (p.Ser366Tyr) c.845C>A (p.Ser282Tyr) c.950+487C>A (n.950+487C>A) | |
5 | g.179833714C= | CA1604334128 | SQSTM1 | c.1097C= (p.Ser366=) c.845C= (p.Ser282=) c.950+487C= (n.950+487C=) | |
5 | g.179833714C>G | CA362452895 | SQSTM1 | c.1097C>G (p.Ser366Cys) c.845C>G (p.Ser282Cys) c.950+487C>G (n.950+487C>G) | ClinVar dbSNP |
5 | g.179833714C>T | CA362452892 | SQSTM1 | c.1097C>T (p.Ser366Phe) c.845C>T (p.Ser282Phe) c.950+487C>T (n.950+487C>T) | |
5 | g.179833715T>A | CA448069747 | SQSTM1 | c.1098T>A (p.Ser366=) c.846T>A (p.Ser282=) c.950+488T>A (n.950+488T>A) | |
5 | g.179833715T>C | CA448069741 | SQSTM1 | c.1098T>C (p.Ser366=) c.846T>C (p.Ser282=) c.950+488T>C (n.950+488T>C) | |
5 | g.179833715T>G | CA448069739 | SQSTM1 | c.1098T>G (p.Ser366=) c.846T>G (p.Ser282=) c.950+488T>G (n.950+488T>G) | |
5 | g.179833716C>A | CA362452897 | SQSTM1 | c.1099C>A (p.Leu367Met) c.847C>A (p.Leu283Met) c.950+489C>A (n.950+489C>A) | |
5 | g.179833716C>G | CA362452898 | SQSTM1 | c.1099C>G (p.Leu367Val) c.847C>G (p.Leu283Val) c.950+489C>G (n.950+489C>G) | COSMIC |
5 | g.179833716C>T | CA448069753 | SQSTM1 | c.1099C>T (p.Leu367=) c.847C>T (p.Leu283=) c.950+489C>T (n.950+489C>T) | |
5 | g.179833717T>A | CA362452901 | SQSTM1 | c.1100T>A (p.Leu367Gln) c.848T>A (p.Leu283Gln) c.950+490T>A (n.950+490T>A) | |
5 | g.179833717T>C | CA362452904 | SQSTM1 | c.1100T>C (p.Leu367Pro) c.848T>C (p.Leu283Pro) c.950+490T>C (n.950+490T>C) | gnomAD v4 |
5 | g.179833717T>G | CA362452906 | SQSTM1 | c.1100T>G (p.Leu367Arg) c.848T>G (p.Leu283Arg) c.950+490T>G (n.950+490T>G) | |
5 | g.179833718G>A | CA448069759 | SQSTM1 | c.1101G>A (p.Leu367=) c.849G>A (p.Leu283=) c.950+491G>A (n.950+491G>A) | |
5 | g.179833718G>C | CA448069770 | SQSTM1 | c.1101G>C (p.Leu367=) c.849G>C (p.Leu283=) c.950+491G>C (n.950+491G>C) | |
5 | g.179833718G= | CA1604334129 | SQSTM1 | c.1101G= (p.Leu367=) c.849G= (p.Leu283=) c.950+491G= (n.950+491G=) | |
5 | g.179833718G>T | CA448069773 | SQSTM1 | c.1101G>T (p.Leu367=) c.849G>T (p.Leu283=) c.950+491G>T (n.950+491G>T) | dbSNP |
5 | g.179833719G>A | CA362452909 | SQSTM1 | c.1102G>A (p.Asp368Asn) c.850G>A (p.Asp284Asn) c.950+492G>A (n.950+492G>A) | |
5 | g.179833719G>C | CA362452910 | SQSTM1 | c.1102G>C (p.Asp368His) c.850G>C (p.Asp284His) c.950+492G>C (n.950+492G>C) | |
5 | g.179833719G>T | CA362452912 | SQSTM1 | c.1102G>T (p.Asp368Tyr) c.850G>T (p.Asp284Tyr) c.950+492G>T (n.950+492G>T) | |
5 | g.179833720A>C | CA362452913 | SQSTM1 | c.1103A>C (p.Asp368Ala) c.851A>C (p.Asp284Ala) c.950+493A>C (n.950+493A>C) | |
5 | g.179833720A>G | CA362452914 | SQSTM1 | c.1103A>G (p.Asp368Gly) c.851A>G (p.Asp284Gly) c.950+493A>G (n.950+493A>G) | |
5 | g.179833720A>T | CA362452916 | SQSTM1 | c.1103A>T (p.Asp368Val) c.851A>T (p.Asp284Val) c.950+493A>T (n.950+493A>T) | |
5 | g.179833721C>A | CA362452917 | SQSTM1 | c.1104C>A (p.Asp368Glu) c.852C>A (p.Asp284Glu) c.950+494C>A (n.950+494C>A) | ClinVar gnomAD v4 |
5 | g.179833721C= | CA1604334130 | SQSTM1 | c.1104C= (p.Asp368=) c.852C= (p.Asp284=) c.950+494C= (n.950+494C=) | |
5 | g.179833721C>G | CA362452919 | SQSTM1 | c.1104C>G (p.Asp368Glu) c.852C>G (p.Asp284Glu) c.950+494C>G (n.950+494C>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833721C>T | CA3600799 | SQSTM1 | c.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 |
5 | g.179833722C>A | CA362452921 | SQSTM1 | c.1105C>A (p.Pro369Thr) c.853C>A (p.Pro285Thr) c.950+495C>A (n.950+495C>A) | |
5 | g.179833722C= | CA1604334131 | SQSTM1 | c.1105C= (p.Pro369=) c.853C= (p.Pro285=) c.950+495C= (n.950+495C=) | |
5 | g.179833722C>G | CA362452923 | SQSTM1 | c.1105C>G (p.Pro369Ala) c.853C>G (p.Pro285Ala) c.950+495C>G (n.950+495C>G) | |
5 | g.179833722C>T | CA133109738 | SQSTM1 | c.1105C>T (p.Pro369Ser) c.853C>T (p.Pro285Ser) c.950+495C>T (n.950+495C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833723C>A | CA362452925 | SQSTM1 | c.1106C>A (p.Pro369His) c.854C>A (p.Pro285His) c.950+496C>A (n.950+496C>A) | |
5 | g.179833723C>G | CA362452926 | SQSTM1 | c.1106C>G (p.Pro369Arg) c.854C>G (p.Pro285Arg) c.950+496C>G (n.950+496C>G) | |
5 | g.179833723C>T | CA362452927 | SQSTM1 | c.1106C>T (p.Pro369Leu) c.854C>T (p.Pro285Leu) c.950+496C>T (n.950+496C>T) | |
5 | g.179833724C>A | CA448069817 | SQSTM1 | c.1107C>A (p.Pro369=) c.855C>A (p.Pro285=) c.950+497C>A (n.950+497C>A) | |
5 | g.179833724C>G | CA448069818 | SQSTM1 | c.1107C>G (p.Pro369=) c.855C>G (p.Pro285=) c.950+497C>G (n.950+497C>G) | |
5 | g.179833724C>T | CA448069821 | SQSTM1 | c.1107C>T (p.Pro369=) c.855C>T (p.Pro285=) c.950+497C>T (n.950+497C>T) | |
5 | g.179833725T>A | CA362452928 | SQSTM1 | c.1108T>A (p.Ser370Thr) c.856T>A (p.Ser286Thr) c.950+498T>A (n.950+498T>A) | |
5 | g.179833725T>C | CA3600800 | SQSTM1 | c.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 |
5 | g.179833725T>G | CA362452929 | SQSTM1 | c.1108T>G (p.Ser370Ala) c.856T>G (p.Ser286Ala) c.950+498T>G (n.950+498T>G) | |
5 | g.179833725T= | CA1604334132 | SQSTM1 | c.1108T= (p.Ser370=) c.856T= (p.Ser286=) c.950+498T= (n.950+498T=) | |
5 | g.179833726C>A | CA362452932 | SQSTM1 | c.1109C>A (p.Ser370Tyr) c.857C>A (p.Ser286Tyr) c.950+499C>A (n.950+499C>A) | |
5 | g.179833726C>G | CA362452933 | SQSTM1 | c.1109C>G (p.Ser370Cys) c.857C>G (p.Ser286Cys) c.950+499C>G (n.950+499C>G) | gnomAD v4 |
5 | g.179833726C>T | CA362452931 | SQSTM1 | c.1109C>T (p.Ser370Phe) c.857C>T (p.Ser286Phe) c.950+499C>T (n.950+499C>T) | ClinVar dbSNP |
5 | g.179833727C>A | CA448069836 | SQSTM1 | c.1110C>A (p.Ser370=) c.858C>A (p.Ser286=) c.950+500C>A (n.950+500C>A) | |
5 | g.179833727C= | CA1604334133 | SQSTM1 | c.1110C= (p.Ser370=) c.858C= (p.Ser286=) c.950+500C= (n.950+500C=) | |
5 | g.179833727C>G | CA448069837 | SQSTM1 | c.1110C>G (p.Ser370=) c.858C>G (p.Ser286=) c.950+500C>G (n.950+500C>G) | |
5 | g.179833727C>T | CA448069840 | SQSTM1 | c.1110C>T (p.Ser370=) c.858C>T (p.Ser286=) c.950+500C>T (n.950+500C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833728C>A | CA362452934 | SQSTM1 | c.1111C>A (p.Gln371Lys) c.859C>A (p.Gln287Lys) c.950+501C>A (n.950+501C>A) | ClinVar gnomAD v4 |
5 | g.179833728C= | CA1604334134 | SQSTM1 | c.1111C= (p.Gln371=) c.859C= (p.Gln287=) c.950+501C= (n.950+501C=) | |
5 | g.179833728C>G | CA362452936 | SQSTM1 | c.1111C>G (p.Gln371Glu) c.859C>G (p.Gln287Glu) c.950+501C>G (n.950+501C>G) | |
5 | g.179833728C>T | CA362452937 | SQSTM1 | c.1111C>T (p.Gln371Ter) c.859C>T (p.Gln287Ter) c.950+501C>T (n.950+501C>T) | ClinVar dbSNP gnomAD v4 |
5 | g.179833729A>C | CA362452939 | SQSTM1 | c.1112A>C (p.Gln371Pro) c.860A>C (p.Gln287Pro) c.950+502A>C (n.950+502A>C) | |
5 | g.179833729A>G | CA362452940 | SQSTM1 | c.1112A>G (p.Gln371Arg) c.860A>G (p.Gln287Arg) c.950+502A>G (n.950+502A>G) | |
5 | g.179833729A>T | CA362452942 | SQSTM1 | c.1112A>T (p.Gln371Leu) c.860A>T (p.Gln287Leu) c.950+502A>T (n.950+502A>T) | gnomAD v4 |
5 | g.179833730G>A | CA448069861 | SQSTM1 | c.1113G>A (p.Gln371=) c.861G>A (p.Gln287=) c.950+503G>A (n.950+503G>A) | dbSNP gnomAD v4 |
5 | g.179833730G>C | CA362452944 | SQSTM1 | c.1113G>C (p.Gln371His) c.861G>C (p.Gln287His) c.950+503G>C (n.950+503G>C) | |
5 | g.179833730G= | CA1604334135 | SQSTM1 | c.1113G= (p.Gln371=) c.861G= (p.Gln287=) c.950+503G= (n.950+503G=) | |
5 | g.179833730G>T | CA362452945 | SQSTM1 | c.1113G>T (p.Gln371His) c.861G>T (p.Gln287His) c.950+503G>T (n.950+503G>T) | |
5 | g.179833731G>A | CA362452947 | SQSTM1 | c.1114G>A (p.Glu372Lys) c.862G>A (p.Glu288Lys) c.950+504G>A (n.950+504G>A) | dbSNP |
5 | g.179833731G>C | CA3600801 | SQSTM1 | c.1114G>C (p.Glu372Gln) c.862G>C (p.Glu288Gln) c.950+504G>C (n.950+504G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833731G= | CA1604334136 | SQSTM1 | c.1114G= (p.Glu372=) c.862G= (p.Glu288=) c.950+504G= (n.950+504G=) | |
5 | g.179833731G>T | CA362452950 | SQSTM1 | c.1114G>T (p.Glu372Ter) c.862G>T (p.Glu288Ter) c.950+504G>T (n.950+504G>T) | |
5 | g.179833732A>C | CA362452955 | SQSTM1 | c.1115A>C (p.Glu372Ala) c.863A>C (p.Glu288Ala) c.950+505A>C (n.950+505A>C) | |
5 | g.179833732A>G | CA362452953 | SQSTM1 | c.1115A>G (p.Glu372Gly) c.863A>G (p.Glu288Gly) c.950+505A>G (n.950+505A>G) | |
5 | g.179833732A>T | CA362452951 | SQSTM1 | c.1115A>T (p.Glu372Val) c.863A>T (p.Glu288Val) c.950+505A>T (n.950+505A>T) | |
5 | g.179833733G>A | CA3600802 | SQSTM1 | c.1116G>A (p.Glu372=) c.864G>A (p.Glu288=) c.950+506G>A (n.950+506G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833733G>C | CA362452957 | SQSTM1 | c.1116G>C (p.Glu372Asp) c.864G>C (p.Glu288Asp) c.950+506G>C (n.950+506G>C) | dbSNP |
5 | g.179833733G= | CA1604334137 | SQSTM1 | c.1116G= (p.Glu372=) c.864G= (p.Glu288=) c.950+506G= (n.950+506G=) | |
5 | g.179833733G>T | CA362452959 | SQSTM1 | c.1116G>T (p.Glu372Asp) c.864G>T (p.Glu288Asp) c.950+506G>T (n.950+506G>T) | |
5 | g.179833735del | CA2676907566 | SQSTM1 | c.1118del (p.Gly373AspfsTer5) c.866del (p.Gly289AspfsTer5) c.950+508del (n.950+508del) | gnomAD v4 |
5 | g.179833734G>A | CA362452961 | SQSTM1 | c.1117G>A (p.Gly373Arg) c.865G>A (p.Gly289Arg) c.950+507G>A (n.950+507G>A) | dbSNP |
5 | g.179833734G>C | CA362452962 | SQSTM1 | c.1117G>C (p.Gly373Arg) c.865G>C (p.Gly289Arg) c.950+507G>C (n.950+507G>C) | |
5 | g.179833734G= | CA1604334138 | SQSTM1 | c.1117G= (p.Gly373=) c.865G= (p.Gly289=) c.950+507G= (n.950+507G=) | |
5 | g.179833734G>T | CA362452964 | SQSTM1 | c.1117G>T (p.Gly373Ter) c.865G>T (p.Gly289Ter) c.950+507G>T (n.950+507G>T) | |
5 | g.179833735G>A | CA362452966 | SQSTM1 | c.1118G>A (p.Gly373Glu) c.866G>A (p.Gly289Glu) c.950+508G>A (n.950+508G>A) | gnomAD v4 |
5 | g.179833735G>C | CA362452967 | SQSTM1 | c.1118G>C (p.Gly373Ala) c.866G>C (p.Gly289Ala) c.950+508G>C (n.950+508G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833735G= | CA1604334139 | SQSTM1 | c.1118G= (p.Gly373=) c.866G= (p.Gly289=) c.950+508G= (n.950+508G=) | |
5 | g.179833735G>T | CA362452969 | SQSTM1 | c.1118G>T (p.Gly373Val) c.866G>T (p.Gly289Val) c.950+508G>T (n.950+508G>T) | |
5 | g.179833736A= | CA1604334140 | SQSTM1 | c.1119A= (p.Gly373=) c.867A= (p.Gly289=) c.950+509A= (n.950+509A=) | |
5 | g.179833736A>C | CA448069898 | SQSTM1 | c.1119A>C (p.Gly373=) c.867A>C (p.Gly289=) c.950+509A>C (n.950+509A>C) | |
5 | g.179833736A>G | CA3600803 | SQSTM1 | c.1119A>G (p.Gly373=) c.867A>G (p.Gly289=) c.950+509A>G (n.950+509A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833736A>T | CA448069903 | SQSTM1 | c.1119A>T (p.Gly373=) c.867A>T (p.Gly289=) c.950+509A>T (n.950+509A>T) | |
5 | g.179833737C>A | CA362452971 | SQSTM1 | c.1120C>A (p.Pro374Thr) c.868C>A (p.Pro290Thr) c.950+510C>A (n.950+510C>A) | |
5 | g.179833737C= | CA1604334141 | SQSTM1 | c.1120C= (p.Pro374=) c.868C= (p.Pro290=) c.950+510C= (n.950+510C=) | |
5 | g.179833737C>G | CA362452973 | SQSTM1 | c.1120C>G (p.Pro374Ala) c.868C>G (p.Pro290Ala) c.950+510C>G (n.950+510C>G) | |
5 | g.179833737C>T | CA362452974 | SQSTM1 | c.1120C>T (p.Pro374Ser) c.868C>T (p.Pro290Ser) c.950+510C>T (n.950+510C>T) | dbSNP gnomAD v4 |
5 | g.179833738C>A | CA362452977 | SQSTM1 | c.1121C>A (p.Pro374His) c.869C>A (p.Pro290His) c.950+511C>A (n.950+511C>A) | |
5 | g.179833738C>G | CA362452979 | SQSTM1 | c.1121C>G (p.Pro374Arg) c.869C>G (p.Pro290Arg) c.950+511C>G (n.950+511C>G) | gnomAD v4 |
5 | g.179833738C>T | CA362452975 | SQSTM1 | c.1121C>T (p.Pro374Leu) c.869C>T (p.Pro290Leu) c.950+511C>T (n.950+511C>T) | ClinVar |
5 | g.179833739C>A | CA448069916 | SQSTM1 | c.1122C>A (p.Pro374=) c.870C>A (p.Pro290=) c.950+512C>A (n.950+512C>A) | |
5 | g.179833739C= | CA1604334142 | SQSTM1 | c.1122C= (p.Pro374=) c.870C= (p.Pro290=) c.950+512C= (n.950+512C=) | |
5 | g.179833739C>G | CA448069919 | SQSTM1 | c.1122C>G (p.Pro374=) c.870C>G (p.Pro290=) c.950+512C>G (n.950+512C>G) | |
5 | g.179833739C>T | CA3600804 | SQSTM1 | c.1122C>T (p.Pro374=) c.870C>T (p.Pro290=) c.950+512C>T (n.950+512C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833740A>C | CA362452981 | SQSTM1 | c.1123A>C (p.Thr375Pro) c.871A>C (p.Thr291Pro) c.950+513A>C (n.950+513A>C) | |
5 | g.179833740A>G | CA362452982 | SQSTM1 | c.1123A>G (p.Thr375Ala) c.871A>G (p.Thr291Ala) c.950+513A>G (n.950+513A>G) | |
5 | g.179833740A>T | CA362452984 | SQSTM1 | c.1123A>T (p.Thr375Ser) c.871A>T (p.Thr291Ser) c.950+513A>T (n.950+513A>T) | |
5 | g.179833741C>A | CA362452986 | SQSTM1 | c.1124C>A (p.Thr375Lys) c.872C>A (p.Thr291Lys) c.950+514C>A (n.950+514C>A) | gnomAD v4 |
5 | g.179833741C= | CA1604334143 | SQSTM1 | c.1124C= (p.Thr375=) c.872C= (p.Thr291=) c.950+514C= (n.950+514C=) | |
5 | g.179833741C>G | CA3600805 | SQSTM1 | c.1124C>G (p.Thr375Arg) c.872C>G (p.Thr291Arg) c.950+514C>G (n.950+514C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833741C>T | CA362452988 | SQSTM1 | c.1124C>T (p.Thr375Ile) c.872C>T (p.Thr291Ile) c.950+514C>T (n.950+514C>T) | dbSNP gnomAD v4 |
5 | g.179833742A= | CA1604334144 | SQSTM1 | c.1125A= (p.Thr375=) c.873A= (p.Thr291=) c.950+515A= (n.950+515A=) | |
5 | g.179833742A>C | CA448069926 | SQSTM1 | c.1125A>C (p.Thr375=) c.873A>C (p.Thr291=) c.950+515A>C (n.950+515A>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833742A>G | CA448069928 | SQSTM1 | c.1125A>G (p.Thr375=) c.873A>G (p.Thr291=) c.950+515A>G (n.950+515A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833742A>T | CA448069932 | SQSTM1 | c.1125A>T (p.Thr375=) c.873A>T (p.Thr291=) c.950+515A>T (n.950+515A>T) | |
5 | g.179833742_179833743delinsAG | CA1604334145 | SQSTM1 | c.1125_1126delinsAG (p.Thr375=) c.873_874delinsAG (p.Thr291=) c.950+515_950+516delinsAG (n.950+515_950+516delinsAG) | |
5 | g.179833745_179833746insTACAAGGG | CA2676907576 | SQSTM1 | c.1128_1129insTACAAGGG (p.Leu377TyrfsTer4) c.876_877insTACAAGGG (p.Leu293TyrfsTer4) c.950+518_950+519insTACAAGGG (n.950+518_950+519insTACAAGGG) | gnomAD v4 |
5 | g.179833743G>A | CA362452990 | SQSTM1 | c.1126G>A (p.Gly376Arg) c.874G>A (p.Gly292Arg) c.950+516G>A (n.950+516G>A) | |
5 | g.179833743G>C | CA362452992 | SQSTM1 | c.1126G>C (p.Gly376Arg) c.874G>C (p.Gly292Arg) c.950+516G>C (n.950+516G>C) | gnomAD v4 |
5 | g.179833743G>T | CA362452993 | SQSTM1 | c.1126G>T (p.Gly376Trp) c.874G>T (p.Gly292Trp) c.950+516G>T (n.950+516G>T) | |
5 | g.179833745del | CA1139659292 | SQSTM1 | c.1128del (p.Leu377Ter) c.876del (p.Leu293Ter) c.950+518del (n.950+518del) | ClinVar dbSNP |
5 | g.179833744G>A | CA362452995 | SQSTM1 | c.1127G>A (p.Gly376Glu) c.875G>A (p.Gly292Glu) c.950+517G>A (n.950+517G>A) | gnomAD v4 |
5 | g.179833744G>C | CA362452996 | SQSTM1 | c.1127G>C (p.Gly376Ala) c.875G>C (p.Gly292Ala) c.950+517G>C (n.950+517G>C) | dbSNP |
5 | g.179833744G= | CA1604334146 | SQSTM1 | c.1127G= (p.Gly376=) c.875G= (p.Gly292=) c.950+517G= (n.950+517G=) | |
5 | g.179833744G>T | CA362452998 | SQSTM1 | c.1127G>T (p.Gly376Val) c.875G>T (p.Gly292Val) c.950+517G>T (n.950+517G>T) | |
5 | g.179833745G>A | CA133109751 | SQSTM1 | c.1128G>A (p.Gly376=) c.876G>A (p.Gly292=) c.950+518G>A (n.950+518G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833745G>C | CA448069949 | SQSTM1 | c.1128G>C (p.Gly376=) c.876G>C (p.Gly292=) c.950+518G>C (n.950+518G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.179833745G= | CA1604334147 | SQSTM1 | c.1128G= (p.Gly376=) c.876G= (p.Gly292=) c.950+518G= (n.950+518G=) | |
5 | g.179833745G>T | CA448069952 | SQSTM1 | c.1128G>T (p.Gly376=) c.876G>T (p.Gly292=) c.950+518G>T (n.950+518G>T) | |
5 | g.179833746del | CA2578507796 | SQSTM1 | c.1129del (p.Leu377Ter) c.877del (p.Leu293Ter) c.950+519del (n.950+519del) | gnomAD v4 |
5 | g.179833746C>A | CA362453001 | SQSTM1 | c.1129C>A (p.Leu377Met) c.877C>A (p.Leu293Met) c.950+519C>A (n.950+519C>A) | |
5 | g.179833746C= | CA1604334148 | SQSTM1 | c.1129C= (p.Leu377=) c.877C= (p.Leu293=) c.950+519C= (n.950+519C=) | |
5 | g.179833746C>G | CA3600806 | SQSTM1 | c.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 |
5 | g.179833746C>T | CA448069956 | SQSTM1 | c.1129C>T (p.Leu377=) c.877C>T (p.Leu293=) c.950+519C>T (n.950+519C>T) | |
5 | g.179833747T>A | CA362453004 | SQSTM1 | c.1130T>A (p.Leu377Gln) c.878T>A (p.Leu293Gln) c.950+520T>A (n.950+520T>A) | |
5 | g.179833747T>C | CA362453006 | SQSTM1 | c.1130T>C (p.Leu377Pro) c.878T>C (p.Leu293Pro) c.950+520T>C (n.950+520T>C) | |
5 | g.179833747T>G | CA362453008 | SQSTM1 | c.1130T>G (p.Leu377Arg) c.878T>G (p.Leu293Arg) c.950+520T>G (n.950+520T>G) | |
5 | g.179833748G>A | CA448069966 | SQSTM1 | c.1131G>A (p.Leu377=) c.879G>A (p.Leu293=) c.950+521G>A (n.950+521G>A) | |
5 | g.179833748G>C | CA448069969 | SQSTM1 | c.1131G>C (p.Leu377=) c.879G>C (p.Leu293=) c.950+521G>C (n.950+521G>C) | |
5 | g.179833748G>T | CA448069972 | SQSTM1 | c.1131G>T (p.Leu377=) c.879G>T (p.Leu293=) c.950+521G>T (n.950+521G>T) | |
5 | g.179833752_179833755del | CA2580614811 | SQSTM1 | c.1135_1138del (p.Glu379LeufsTer15) c.883_886del (p.Glu295LeufsTer15) c.950+525_950+528del (n.950+525_950+528del) | ClinVar gnomAD v3 gnomAD v4 |
5 | g.179833749A= | CA1604334149 | SQSTM1 | c.1132A= (p.Lys378=) c.880A= (p.Lys294=) c.950+522A= (n.950+522A=) | |
5 | g.179833749A>C | CA362453010 | SQSTM1 | c.1132A>C (p.Lys378Gln) c.880A>C (p.Lys294Gln) c.950+522A>C (n.950+522A>C) | |
5 | g.179833749A>G | CA362453012 | SQSTM1 | c.1132A>G (p.Lys378Glu) c.880A>G (p.Lys294Glu) c.950+522A>G (n.950+522A>G) | |
5 | g.179833749A>T | CA346902 | SQSTM1 | c.1132A>T (p.Lys378Ter) c.880A>T (p.Lys294Ter) c.950+522A>T (n.950+522A>T) | ClinVar dbSNP gnomAD v4 |
5 | g.179833750A= | CA1604334150 | SQSTM1 | c.1133A= (p.Lys378=) c.881A= (p.Lys294=) c.950+523A= (n.950+523A=) | |
5 | g.179833750A>C | CA362453015 | SQSTM1 | c.1133A>C (p.Lys378Thr) c.881A>C (p.Lys294Thr) c.950+523A>C (n.950+523A>C) | |
5 | g.179833750A>G | CA362453016 | SQSTM1 | c.1133A>G (p.Lys378Arg) c.881A>G (p.Lys294Arg) c.950+523A>G (n.950+523A>G) | dbSNP |
5 | g.179833750A>T | CA362453017 | SQSTM1 | c.1133A>T (p.Lys378Met) c.881A>T (p.Lys294Met) c.950+523A>T (n.950+523A>T) | |
5 | g.179833751G>A | CA3600807 | SQSTM1 | c.1134G>A (p.Lys378=) c.882G>A (p.Lys294=) c.950+524G>A (n.950+524G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833751G>C | CA362453020 | SQSTM1 | c.1134G>C (p.Lys378Asn) c.882G>C (p.Lys294Asn) c.950+524G>C (n.950+524G>C) | |
5 | g.179833751G= | CA1604334151 | SQSTM1 | c.1134G= (p.Lys378=) c.882G= (p.Lys294=) c.950+524G= (n.950+524G=) | |
5 | g.179833751G>T | CA362453021 | SQSTM1 | c.1134G>T (p.Lys378Asn) c.882G>T (p.Lys294Asn) c.950+524G>T (n.950+524G>T) | |
5 | g.179833752G>A | CA133109755 | SQSTM1 | c.1135G>A (p.Glu379Lys) c.883G>A (p.Glu295Lys) c.950+525G>A (n.950+525G>A) | dbSNP |
5 | g.179833752G>C | CA362453025 | SQSTM1 | c.1135G>C (p.Glu379Gln) c.883G>C (p.Glu295Gln) c.950+525G>C (n.950+525G>C) | |
5 | g.179833752G= | CA1604334152 | SQSTM1 | c.1135G= (p.Glu379=) c.883G= (p.Glu295=) c.950+525G= (n.950+525G=) | |
5 | g.179833752G>T | CA362453023 | SQSTM1 | c.1135G>T (p.Glu379Ter) c.883G>T (p.Glu295Ter) c.950+525G>T (n.950+525G>T) | |
5 | g.179833753A>C | CA362453027 | SQSTM1 | c.1136A>C (p.Glu379Ala) c.884A>C (p.Glu295Ala) c.950+526A>C (n.950+526A>C) | |
5 | g.179833753A>G | CA362453028 | SQSTM1 | c.1136A>G (p.Glu379Gly) c.884A>G (p.Glu295Gly) c.950+526A>G (n.950+526A>G) | |
5 | g.179833753A>T | CA362453030 | SQSTM1 | c.1136A>T (p.Glu379Val) c.884A>T (p.Glu295Val) c.950+526A>T (n.950+526A>T) | |
5 | g.179833754A>C | CA362453032 | SQSTM1 | c.1137A>C (p.Glu379Asp) c.885A>C (p.Glu295Asp) c.950+527A>C (n.950+527A>C) | |
5 | g.179833754A>G | CA448070010 | SQSTM1 | c.1137A>G (p.Glu379=) c.885A>G (p.Glu295=) c.950+527A>G (n.950+527A>G) | |
5 | g.179833754A>T | CA362453034 | SQSTM1 | c.1137A>T (p.Glu379Asp) c.885A>T (p.Glu295Asp) c.950+527A>T (n.950+527A>T) | |
5 | g.179833755G>A | CA362453035 | SQSTM1 | c.1138G>A (p.Ala380Thr) c.886G>A (p.Ala296Thr) c.950+528G>A (n.950+528G>A) | COSMIC |
5 | g.179833755G>C | CA362453037 | SQSTM1 | c.1138G>C (p.Ala380Pro) c.886G>C (p.Ala296Pro) c.950+528G>C (n.950+528G>C) | |
5 | g.179833755G>T | CA362453039 | SQSTM1 | c.1138G>T (p.Ala380Ser) c.886G>T (p.Ala296Ser) c.950+528G>T (n.950+528G>T) | |
5 | g.179833756C>A | CA362453041 | SQSTM1 | c.1139C>A (p.Ala380Asp) c.887C>A (p.Ala296Asp) c.950+529C>A (n.950+529C>A) | |
5 | g.179833756C= | CA1604334153 | SQSTM1 | c.1139C= (p.Ala380=) c.887C= (p.Ala296=) c.950+529C= (n.950+529C=) | |
5 | g.179833756C>G | CA362453042 | SQSTM1 | c.1139C>G (p.Ala380Gly) c.887C>G (p.Ala296Gly) c.950+529C>G (n.950+529C>G) | dbSNP |
5 | g.179833756C>T | CA362453044 | SQSTM1 | c.1139C>T (p.Ala380Val) c.887C>T (p.Ala296Val) c.950+529C>T (n.950+529C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179833757T>A | CA448070027 | SQSTM1 | c.1140T>A (p.Ala380=) c.888T>A (p.Ala296=) c.950+530T>A (n.950+530T>A) | |
5 | g.179833757T>C | CA3600808 | SQSTM1 | c.1140T>C (p.Ala380=) c.888T>C (p.Ala296=) c.950+530T>C (n.950+530T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179833757T>G | CA448070032 | SQSTM1 | c.1140T>G (p.Ala380=) c.888T>G (p.Ala296=) c.950+530T>G (n.950+530T>G) | |
5 | g.179833757T= | CA1604334154 | SQSTM1 | c.1140T= (p.Ala380=) c.888T= (p.Ala296=) c.950+530T= (n.950+530T=) | |
5 | g.179833758G>A | CA362453051 | SQSTM1 | c.1141G>A (p.Ala381Thr) c.889G>A (p.Ala297Thr) c.950+531G>A (n.950+531G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833758G>C | CA362453053 | SQSTM1 | c.1141G>C (p.Ala381Pro) c.889G>C (p.Ala297Pro) c.950+531G>C (n.950+531G>C) | dbSNP |
5 | g.179833758G= | CA1604334155 | SQSTM1 | c.1141G= (p.Ala381=) c.889G= (p.Ala297=) c.950+531G= (n.950+531G=) | |
5 | g.179833758G>T | CA362453047 | SQSTM1 | c.1141G>T (p.Ala381Ser) c.889G>T (p.Ala297Ser) c.950+531G>T (n.950+531G>T) | |
5 | g.179833759C>A | CA362453056 | SQSTM1 | c.1142C>A (p.Ala381Asp) c.890C>A (p.Ala297Asp) c.950+532C>A (n.950+532C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179833759C= | CA1604334156 | SQSTM1 | c.1142C= (p.Ala381=) c.890C= (p.Ala297=) c.950+532C= (n.950+532C=) | |
5 | g.179833759C>G | CA362453058 | SQSTM1 | c.1142C>G (p.Ala381Gly) c.890C>G (p.Ala297Gly) c.950+532C>G (n.950+532C>G) | |
5 | g.179833759C>T | CA3600809 | SQSTM1 | c.1142C>T (p.Ala381Val) c.890C>T (p.Ala297Val) c.950+532C>T (n.950+532C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179833760C>A | CA448070050 | SQSTM1 | c.1143C>A (p.Ala381=) c.891C>A (p.Ala297=) c.950+533C>A (n.950+533C>A) | |
5 | g.179833760C= | CA1604334157 | SQSTM1 | c.1143C= (p.Ala381=) c.891C= (p.Ala297=) c.950+533C= (n.950+533C=) | |
5 | g.179833760C>G | CA448070053 | SQSTM1 | c.1143C>G (p.Ala381=) c.891C>G (p.Ala297=) c.950+533C>G (n.950+533C>G) | |
5 | g.179833760C>T | CA448070055 | SQSTM1 | c.1143C>T (p.Ala381=) c.891C>T (p.Ala297=) c.950+533C>T (n.950+533C>T) | dbSNP |
5 | g.179833761T>A | CA362453060 | SQSTM1 | c.1144T>A (p.Leu382Met) c.892T>A (p.Leu298Met) c.950+534T>A (n.950+534T>A) | |
5 | g.179833761T>C | CA448070060 | SQSTM1 | c.1144T>C (p.Leu382=) c.892T>C (p.Leu298=) c.950+534T>C (n.950+534T>C) | |
5 | g.179833761T>G | CA362453061 | SQSTM1 | c.1144T>G (p.Leu382Val) c.892T>G (p.Leu298Val) c.950+534T>G (n.950+534T>G) | |
5 | g.179833762T>A | CA362453066 | SQSTM1 | c.1145T>A (p.Leu382Ter) c.893T>A (p.Leu298Ter) c.950+535T>A (n.950+535T>A) | |
5 | g.179833762T>C | CA362453063 | SQSTM1 | c.1145T>C (p.Leu382Ser) c.893T>C (p.Leu298Ser) c.950+535T>C (n.950+535T>C) | COSMIC |
5 | g.179833762T>G | CA362453065 | SQSTM1 | c.1145T>G (p.Leu382Trp) c.893T>G (p.Leu298Trp) c.950+535T>G (n.950+535T>G) | |
5 | g.179833763G>A | CA448070071 | SQSTM1 | c.1146G>A (p.Leu382=) c.894G>A (p.Leu298=) c.950+536G>A (n.950+536G>A) | ClinVar gnomAD v4 |
5 | g.179833763G>C | CA362453068 | SQSTM1 | c.1146G>C (p.Leu382Phe) c.894G>C (p.Leu298Phe) c.950+536G>C (n.950+536G>C) | |
5 | g.179833763G>T | CA362453069 | SQSTM1 | c.1146G>T (p.Leu382Phe) c.894G>T (p.Leu298Phe) c.950+536G>T (n.950+536G>T) | gnomAD v4 |
5 | g.179833764T>A | CA362453070 | SQSTM1 | c.1147T>A (p.Tyr383Asn) c.895T>A (p.Tyr299Asn) c.950+537T>A (n.950+537T>A) | |
5 | g.179833764T>C | CA362453071 | SQSTM1 | c.1147T>C (p.Tyr383His) c.895T>C (p.Tyr299His) c.950+537T>C (n.950+537T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.179833764T>G | CA362453073 | SQSTM1 | c.1147T>G (p.Tyr383Asp) c.895T>G (p.Tyr299Asp) c.950+537T>G (n.950+537T>G) | |
5 | g.179833764T= | CA1604334158 | SQSTM1 | c.1147T= (p.Tyr383=) c.895T= (p.Tyr299=) c.950+537T= (n.950+537T=) | |
5 | g.179833765A>C | CA362453078 | SQSTM1 | c.1148A>C (p.Tyr383Ser) c.896A>C (p.Tyr299Ser) c.950+538A>C (n.950+538A>C) | |
5 | g.179833765A>G | CA362453077 | SQSTM1 | c.1148A>G (p.Tyr383Cys) c.896A>G (p.Tyr299Cys) c.950+538A>G (n.950+538A>G) | |
5 | g.179833765A>T | CA362453075 | SQSTM1 | c.1148A>T (p.Tyr383Phe) c.896A>T (p.Tyr299Phe) c.950+538A>T (n.950+538A>T) |