| 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.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) | |
| 5 | g.179833766C>A | CA362453080 | SQSTM1 | c.1149C>A (p.Tyr383Ter) c.897C>A (p.Tyr299Ter) c.950+539C>A (n.950+539C>A) | dbSNP |
| 5 | g.179833766C= | CA1604334159 | SQSTM1 | c.1149C= (p.Tyr383=) c.897C= (p.Tyr299=) c.950+539C= (n.950+539C=) | |
| 5 | g.179833766C>G | CA362453082 | SQSTM1 | c.1149C>G (p.Tyr383Ter) c.897C>G (p.Tyr299Ter) c.950+539C>G (n.950+539C>G) | |
| 5 | g.179833766C>T | CA448070091 | SQSTM1 | c.1149C>T (p.Tyr383=) c.897C>T (p.Tyr299=) c.950+539C>T (n.950+539C>T) | ClinVar gnomAD v4 |
| 5 | g.179833767C>A | CA362453083 | SQSTM1 | c.1150C>A (p.Pro384Thr) c.898C>A (p.Pro300Thr) c.950+540C>A (n.950+540C>A) | gnomAD v4 |
| 5 | g.179833767C= | CA1604334160 | SQSTM1 | c.1150C= (p.Pro384=) c.898C= (p.Pro300=) c.950+540C= (n.950+540C=) | |
| 5 | g.179833767C>G | CA362453086 | SQSTM1 | c.1150C>G (p.Pro384Ala) c.898C>G (p.Pro300Ala) c.950+540C>G (n.950+540C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833767C>T | CA3600810 | SQSTM1 | c.1150C>T (p.Pro384Ser) c.898C>T (p.Pro300Ser) c.950+540C>T (n.950+540C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833768C>A | CA362453088 | SQSTM1 | c.1151C>A (p.Pro384Gln) c.899C>A (p.Pro300Gln) c.950+541C>A (n.950+541C>A) | |
| 5 | g.179833768C= | CA1604334161 | SQSTM1 | c.1151C= (p.Pro384=) c.899C= (p.Pro300=) c.950+541C= (n.950+541C=) | |
| 5 | g.179833768C>G | CA362453089 | SQSTM1 | c.1151C>G (p.Pro384Arg) c.899C>G (p.Pro300Arg) c.950+541C>G (n.950+541C>G) | |
| 5 | g.179833768C>T | CA362453091 | SQSTM1 | c.1151C>T (p.Pro384Leu) c.899C>T (p.Pro300Leu) c.950+541C>T (n.950+541C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.179833769A= | CA1604334162 | SQSTM1 | c.1152A= (p.Pro384=) c.900A= (p.Pro300=) c.950+542A= (n.950+542A=) | |
| 5 | g.179833769A>C | CA133109769 | SQSTM1 | c.1152A>C (p.Pro384=) c.900A>C (p.Pro300=) c.950+542A>C (n.950+542A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833769A>G | CA448070108 | SQSTM1 | c.1152A>G (p.Pro384=) c.900A>G (p.Pro300=) c.950+542A>G (n.950+542A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833769A>T | CA448070110 | SQSTM1 | c.1152A>T (p.Pro384=) c.900A>T (p.Pro300=) c.950+542A>T (n.950+542A>T) | |
| 5 | g.179833770C>A | CA362453093 | SQSTM1 | c.1153C>A (p.His385Asn) c.901C>A (p.His301Asn) c.950+543C>A (n.950+543C>A) | dbSNP |
| 5 | g.179833770C= | CA1604334163 | SQSTM1 | c.1153C= (p.His385=) c.901C= (p.His301=) c.950+543C= (n.950+543C=) | |
| 5 | g.179833770C>G | CA362453095 | SQSTM1 | c.1153C>G (p.His385Asp) c.901C>G (p.His301Asp) c.950+543C>G (n.950+543C>G) | |
| 5 | g.179833770C>T | CA3600811 | SQSTM1 | c.1153C>T (p.His385Tyr) c.901C>T (p.His301Tyr) c.950+543C>T (n.950+543C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833771A>C | CA362453097 | SQSTM1 | c.1154A>C (p.His385Pro) c.902A>C (p.His301Pro) c.950+544A>C (n.950+544A>C) | |
| 5 | g.179833771A>G | CA362453099 | SQSTM1 | c.1154A>G (p.His385Arg) c.902A>G (p.His301Arg) c.950+544A>G (n.950+544A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.179833771A>T | CA362453100 | SQSTM1 | c.1154A>T (p.His385Leu) c.902A>T (p.His301Leu) c.950+544A>T (n.950+544A>T) | |
| 5 | g.179833772T>A | CA362453101 | SQSTM1 | c.1155T>A (p.His385Gln) c.903T>A (p.His301Gln) c.950+545T>A (n.950+545T>A) | |
| 5 | g.179833772T>C | CA448070127 | SQSTM1 | c.1155T>C (p.His385=) c.903T>C (p.His301=) c.950+545T>C (n.950+545T>C) | |
| 5 | g.179833772T>G | CA362453102 | SQSTM1 | c.1155T>G (p.His385Gln) c.903T>G (p.His301Gln) c.950+545T>G (n.950+545T>G) | |
| 5 | g.179833773C>A | CA362453107 | SQSTM1 | c.1156C>A (p.Leu386Ile) c.904C>A (p.Leu302Ile) c.950+546C>A (n.950+546C>A) | |
| 5 | g.179833773C>G | CA362453104 | SQSTM1 | c.1156C>G (p.Leu386Val) c.904C>G (p.Leu302Val) c.950+546C>G (n.950+546C>G) | ClinVar gnomAD v4 |
| 5 | g.179833773C>T | CA362453105 | SQSTM1 | c.1156C>T (p.Leu386Phe) c.904C>T (p.Leu302Phe) c.950+546C>T (n.950+546C>T) | gnomAD v4 |
| 5 | g.179833774T>A | CA362453109 | SQSTM1 | c.1157T>A (p.Leu386His) c.905T>A (p.Leu302His) c.950+547T>A (n.950+547T>A) | gnomAD v4 |
| 5 | g.179833774T>C | CA362453111 | SQSTM1 | c.1157T>C (p.Leu386Pro) c.905T>C (p.Leu302Pro) c.950+547T>C (n.950+547T>C) | |
| 5 | g.179833774T>G | CA362453113 | SQSTM1 | c.1157T>G (p.Leu386Arg) c.905T>G (p.Leu302Arg) c.950+547T>G (n.950+547T>G) | |
| 5 | g.179833775C>A | CA448070143 | SQSTM1 | c.1158C>A (p.Leu386=) c.906C>A (p.Leu302=) c.950+548C>A (n.950+548C>A) | |
| 5 | g.179833775C>G | CA448070145 | SQSTM1 | c.1158C>G (p.Leu386=) c.906C>G (p.Leu302=) c.950+548C>G (n.950+548C>G) | |
| 5 | g.179833775C>T | CA448070148 | SQSTM1 | c.1158C>T (p.Leu386=) c.906C>T (p.Leu302=) c.950+548C>T (n.950+548C>T) | ClinVar |
| 5 | g.179833776C>A | CA362453115 | SQSTM1 | c.1159C>A (p.Pro387Thr) c.907C>A (p.Pro303Thr) c.950+549C>A (n.950+549C>A) | |
| 5 | g.179833776C= | CA1604334164 | SQSTM1 | c.1159C= (p.Pro387=) c.907C= (p.Pro303=) c.950+549C= (n.950+549C=) | |
| 5 | g.179833776C>G | CA3600812 | SQSTM1 | c.1159C>G (p.Pro387Ala) c.907C>G (p.Pro303Ala) c.950+549C>G (n.950+549C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833776C>T | CA362453117 | SQSTM1 | c.1159C>T (p.Pro387Ser) c.907C>T (p.Pro303Ser) c.950+549C>T (n.950+549C>T) | |
| 5 | g.179833777C>A | CA362453119 | SQSTM1 | c.1160C>A (p.Pro387Gln) c.908C>A (p.Pro303Gln) c.950+550C>A (n.950+550C>A) | |
| 5 | g.179833777C= | CA1604334165 | SQSTM1 | c.1160C= (p.Pro387=) c.908C= (p.Pro303=) c.950+550C= (n.950+550C=) | |
| 5 | g.179833777C>G | CA362453120 | SQSTM1 | c.1160C>G (p.Pro387Arg) c.908C>G (p.Pro303Arg) c.950+550C>G (n.950+550C>G) | |
| 5 | g.179833777C>T | CA203868 | SQSTM1 | c.1160C>T (p.Pro387Leu) c.908C>T (p.Pro303Leu) c.950+550C>T (n.950+550C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.179833777_179833778delinsCG | CA1604334166 | SQSTM1 | c.1160_1161delinsCG (p.Pro387=) c.908_909delinsCG (p.Pro303=) c.950+550_950+551delinsCG (n.950+550_950+551delinsCG) | |
| 5 | g.179833778del | CA564931098 | SQSTM1 | c.1161del (p.Pro388GlnfsTer7) c.909del (p.Pro304GlnfsTer7) c.950+551del (n.950+551del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833778G>A | CA3600813 | SQSTM1 | c.1161G>A (p.Pro387=) c.909G>A (p.Pro303=) c.950+551G>A (n.950+551G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833778G>C | CA448070458 | SQSTM1 | c.1161G>C (p.Pro387=) c.909G>C (p.Pro303=) c.950+551G>C (n.950+551G>C) | |
| 5 | g.179833778G= | CA1604334167 | SQSTM1 | c.1161G= (p.Pro387=) c.909G= (p.Pro303=) c.950+551G= (n.950+551G=) | |
| 5 | g.179833778G>T | CA3600814 | SQSTM1 | c.1161G>T (p.Pro387=) c.909G>T (p.Pro303=) c.950+551G>T (n.950+551G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833779C>A | CA362453126 | SQSTM1 | c.1162C>A (p.Pro388Thr) c.910C>A (p.Pro304Thr) c.950+552C>A (n.950+552C>A) | |
| 5 | g.179833779C= | CA1604334168 | SQSTM1 | c.1162C= (p.Pro388=) c.910C= (p.Pro304=) c.950+552C= (n.950+552C=) | |
| 5 | g.179833779C>G | CA362453128 | SQSTM1 | c.1162C>G (p.Pro388Ala) c.910C>G (p.Pro304Ala) c.950+552C>G (n.950+552C>G) | |
| 5 | g.179833779C>T | CA362453124 | SQSTM1 | c.1162C>T (p.Pro388Ser) c.910C>T (p.Pro304Ser) c.950+552C>T (n.950+552C>T) | dbSNP |
| 5 | g.179833780C>A | CA362453129 | SQSTM1 | c.1163C>A (p.Pro388Gln) c.911C>A (p.Pro304Gln) c.950+553C>A (n.950+553C>A) | |
| 5 | g.179833780C= | CA1604334169 | SQSTM1 | c.1163C= (p.Pro388=) c.911C= (p.Pro304=) c.950+553C= (n.950+553C=) | |
| 5 | g.179833780C>G | CA3600815 | SQSTM1 | c.1163C>G (p.Pro388Arg) c.911C>G (p.Pro304Arg) c.950+553C>G (n.950+553C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.179833780C>T | CA362453131 | SQSTM1 | c.1163C>T (p.Pro388Leu) c.911C>T (p.Pro304Leu) c.950+553C>T (n.950+553C>T) | gnomAD v4 |
| 5 | g.179833781A>C | CA448070486 | SQSTM1 | c.1164A>C (p.Pro388=) c.912A>C (p.Pro304=) c.950+554A>C (n.950+554A>C) | |
| 5 | g.179833781A>G | CA448070491 | SQSTM1 | c.1164A>G (p.Pro388=) c.912A>G (p.Pro304=) c.950+554A>G (n.950+554A>G) | |
| 5 | g.179833781A>T | CA448070494 | SQSTM1 | c.1164A>T (p.Pro388=) c.912A>T (p.Pro304=) c.950+554A>T (n.950+554A>T) | |
| 5 | g.179833782G>A | CA362453132 | SQSTM1 | c.1165G>A (p.Glu389Lys) c.913G>A (p.Glu305Lys) c.950+555G>A (n.950+555G>A) | |
| 5 | g.179833782G>C | CA362453134 | SQSTM1 | c.1165G>C (p.Glu389Gln) c.913G>C (p.Glu305Gln) c.950+555G>C (n.950+555G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.179833782G= | CA1604334170 | SQSTM1 | c.1165G= (p.Glu389=) c.913G= (p.Glu305=) c.950+555G= (n.950+555G=) | |
| 5 | g.179833782G>T | CA362453136 | SQSTM1 | c.1165G>T (p.Glu389Ter) c.913G>T (p.Glu305Ter) c.950+555G>T (n.950+555G>T) | |
| 5 | g.179833782_179833783insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA | CA2710957789 | SQSTM1 | c.1165_1165+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA (n.1165_1165+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA) c.913_913+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA (n.913_913+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA) c.950+555_950+556insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA (n.950+555_950+556insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCA) | dbSNP |
| 5 | g.179833782_179833783insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT | CA2710957764 | SQSTM1 | c.1165_1165+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT (n.1165_1165+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT) c.913_913+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT (n.913_913+1insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT) c.950+555_950+556insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT (n.950+555_950+556insAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCAT) | dbSNP |
| 5 | g.179833783G>A | CA340743 | SQSTM1 | c.1165+1G>A (n.1165+1G>A) c.913+1G>A (n.913+1G>A) c.950+556G>A (n.950+556G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.179833783G>C | CA362453137 | SQSTM1 | c.1165+1G>C (n.1165+1G>C) c.913+1G>C (n.913+1G>C) c.950+556G>C (n.950+556G>C) | |
| 5 | g.179833783G= | CA1604334171 | SQSTM1 | c.1165+1G= (n.1165+1G=) c.913+1G= (n.913+1G=) c.950+556G= (n.950+556G=) | |
| 5 | g.179833783G>T | CA362453138 | SQSTM1 | c.1165+1G>T (n.1165+1G>T) c.913+1G>T (n.913+1G>T) c.950+556G>T (n.950+556G>T) | |
| 5 | g.179833784C>A | CA362453139 | SQSTM1 | c.1165+2C>A (n.1165+2C>A) c.913+2C>A (n.913+2C>A) c.950+557C>A (n.950+557C>A) | |
| 5 | g.179833784C>G | CA362453141 | SQSTM1 | c.1165+2C>G (n.1165+2C>G) c.913+2C>G (n.913+2C>G) c.950+557C>G (n.950+557C>G) | gnomAD v4 |
| 5 | g.179833784C>T | CA362453142 | SQSTM1 | c.1165+2C>T (n.1165+2C>T) c.913+2C>T (n.913+2C>T) c.950+557C>T (n.950+557C>T) |