Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.1753550C>A | CA379092397 | CTSD | c.1192G>T (p.Asp398Tyr) c.1087G>T (p.Asp363Tyr) c.617G>T c.*358G>T (n.*358G>T) c.1309G>T (p.Asp437Tyr) c.1071+253G>T (n.1071+253G>T) c.1171G>T (p.Asp391Tyr) c.72+253G>T (n.72+253G>T) c.1186G>T (p.Asp396Tyr) n.790G>T n.3620G>T c.1174G>T (p.Asp392Tyr) c.1183G>T (p.Asp395Tyr) n.500G>T c.*1053G>T (n.*1053G>T) c.471+253G>T (n.471+253G>T) c.523G>T (p.Asp175Tyr) | |
11 | g.1753550C>G | CA379092398 | CTSD | c.1192G>C (p.Asp398His) c.1087G>C (p.Asp363His) c.617G>C c.*358G>C (n.*358G>C) c.1309G>C (p.Asp437His) c.1071+253G>C (n.1071+253G>C) c.1171G>C (p.Asp391His) c.72+253G>C (n.72+253G>C) c.1186G>C (p.Asp396His) n.790G>C n.3620G>C c.1174G>C (p.Asp392His) c.1183G>C (p.Asp395His) n.500G>C c.*1053G>C (n.*1053G>C) c.471+253G>C (n.471+253G>C) c.523G>C (p.Asp175His) | |
11 | g.1753550C>T | CA379092399 | CTSD | c.1192G>A (p.Asp398Asn) c.1087G>A (p.Asp363Asn) c.617G>A c.*358G>A (n.*358G>A) c.1309G>A (p.Asp437Asn) c.1071+253G>A (n.1071+253G>A) c.1171G>A (p.Asp391Asn) c.72+253G>A (n.72+253G>A) c.1186G>A (p.Asp396Asn) n.790G>A n.3620G>A c.1174G>A (p.Asp392Asn) c.1183G>A (p.Asp395Asn) n.500G>A c.*1053G>A (n.*1053G>A) c.471+253G>A (n.471+253G>A) c.523G>A (p.Asp175Asn) | |
11 | g.1753551A>C | CA379092400 | CTSD | c.1191T>G (p.Phe397Leu) c.1086T>G (p.Phe362Leu) c.616T>G c.*357T>G (n.*357T>G) c.1308T>G (p.Phe436Leu) c.1071+252T>G (n.1071+252T>G) c.1170T>G (p.Phe390Leu) c.72+252T>G (n.72+252T>G) c.1185T>G (p.Phe395Leu) n.789T>G n.3619T>G c.1173T>G (p.Phe391Leu) c.1182T>G (p.Phe394Leu) n.499T>G c.*1052T>G (n.*1052T>G) c.471+252T>G (n.471+252T>G) c.522T>G (p.Phe174Leu) | |
11 | g.1753551A>G | CA472139738 | CTSD | c.1191T>C (p.Phe397=) c.1086T>C (p.Phe362=) c.616T>C c.*357T>C (n.*357T>C) c.1308T>C (p.Phe436=) c.1071+252T>C (n.1071+252T>C) c.1170T>C (p.Phe390=) c.72+252T>C (n.72+252T>C) c.1185T>C (p.Phe395=) n.789T>C n.3619T>C c.1173T>C (p.Phe391=) c.1182T>C (p.Phe394=) n.499T>C c.*1052T>C (n.*1052T>C) c.471+252T>C (n.471+252T>C) c.522T>C (p.Phe174=) | |
11 | g.1753551A>T | CA379092401 | CTSD | c.1191T>A (p.Phe397Leu) c.1086T>A (p.Phe362Leu) c.616T>A c.*357T>A (n.*357T>A) c.1308T>A (p.Phe436Leu) c.1071+252T>A (n.1071+252T>A) c.1170T>A (p.Phe390Leu) c.72+252T>A (n.72+252T>A) c.1185T>A (p.Phe395Leu) n.789T>A n.3619T>A c.1173T>A (p.Phe391Leu) c.1182T>A (p.Phe394Leu) n.499T>A c.*1052T>A (n.*1052T>A) c.471+252T>A (n.471+252T>A) c.522T>A (p.Phe174Leu) | |
11 | g.1753552A>C | CA379092402 | CTSD | c.1190T>G (p.Phe397Cys) c.1085T>G (p.Phe362Cys) c.615T>G c.*356T>G (n.*356T>G) c.1307T>G (p.Phe436Cys) c.1071+251T>G (n.1071+251T>G) c.1169T>G (p.Phe390Cys) c.72+251T>G (n.72+251T>G) c.1184T>G (p.Phe395Cys) n.788T>G n.3618T>G c.1172T>G (p.Phe391Cys) c.1181T>G (p.Phe394Cys) n.498T>G c.*1051T>G (n.*1051T>G) c.471+251T>G (n.471+251T>G) c.521T>G (p.Phe174Cys) | |
11 | g.1753552A>G | CA379092403 | CTSD | c.1190T>C (p.Phe397Ser) c.1085T>C (p.Phe362Ser) c.615T>C c.*356T>C (n.*356T>C) c.1307T>C (p.Phe436Ser) c.1071+251T>C (n.1071+251T>C) c.1169T>C (p.Phe390Ser) c.72+251T>C (n.72+251T>C) c.1184T>C (p.Phe395Ser) n.788T>C n.3618T>C c.1172T>C (p.Phe391Ser) c.1181T>C (p.Phe394Ser) n.498T>C c.*1051T>C (n.*1051T>C) c.471+251T>C (n.471+251T>C) c.521T>C (p.Phe174Ser) | |
11 | g.1753552A>T | CA379092404 | CTSD | c.1190T>A (p.Phe397Tyr) c.1085T>A (p.Phe362Tyr) c.615T>A c.*356T>A (n.*356T>A) c.1307T>A (p.Phe436Tyr) c.1071+251T>A (n.1071+251T>A) c.1169T>A (p.Phe390Tyr) c.72+251T>A (n.72+251T>A) c.1184T>A (p.Phe395Tyr) n.788T>A n.3618T>A c.1172T>A (p.Phe391Tyr) c.1181T>A (p.Phe394Tyr) n.498T>A c.*1051T>A (n.*1051T>A) c.471+251T>A (n.471+251T>A) c.521T>A (p.Phe174Tyr) | |
11 | g.1753552_1753554delinsAAC | CA1947825110 | CTSD | c.1188_1190delinsGTT (p.Val396=) c.1083_1085delinsGTT (p.Val361=) c.613_615delinsGTT c.*354_*356delinsGTT (n.*354_*356delinsGTT) c.1305_1307delinsGTT (p.Val435=) c.1071+249_1071+251delinsGTT (n.1071+249_1071+251delinsGTT) c.1167_1169delinsGTT (p.Val389=) c.72+249_72+251delinsGTT (n.72+249_72+251delinsGTT) c.1182_1184delinsGTT (p.Val394=) n.786_788delinsGTT n.3616_3618delinsGTT c.1170_1172delinsGTT (p.Val390=) c.1179_1181delinsGTT (p.Val393=) n.496_498delinsGTT c.*1049_*1051delinsGTT (n.*1049_*1051delinsGTT) c.471+249_471+251delinsGTT (n.471+249_471+251delinsGTT) c.519_521delinsGTT (p.Val173=) | |
11 | g.1753553A>C | CA379092405 | CTSD | c.1189T>G (p.Phe397Val) c.1084T>G (p.Phe362Val) c.614T>G c.*355T>G (n.*355T>G) c.1306T>G (p.Phe436Val) c.1071+250T>G (n.1071+250T>G) c.1168T>G (p.Phe390Val) c.72+250T>G (n.72+250T>G) c.1183T>G (p.Phe395Val) n.787T>G n.3617T>G c.1171T>G (p.Phe391Val) c.1180T>G (p.Phe394Val) n.497T>G c.*1050T>G (n.*1050T>G) c.471+250T>G (n.471+250T>G) c.520T>G (p.Phe174Val) | |
11 | g.1753553A>G | CA379092406 | CTSD | c.1189T>C (p.Phe397Leu) c.1084T>C (p.Phe362Leu) c.614T>C c.*355T>C (n.*355T>C) c.1306T>C (p.Phe436Leu) c.1071+250T>C (n.1071+250T>C) c.1168T>C (p.Phe390Leu) c.72+250T>C (n.72+250T>C) c.1183T>C (p.Phe395Leu) n.787T>C n.3617T>C c.1171T>C (p.Phe391Leu) c.1180T>C (p.Phe394Leu) n.497T>C c.*1050T>C (n.*1050T>C) c.471+250T>C (n.471+250T>C) c.520T>C (p.Phe174Leu) | |
11 | g.1753553A>T | CA379092407 | CTSD | c.1189T>A (p.Phe397Ile) c.1084T>A (p.Phe362Ile) c.614T>A c.*355T>A (n.*355T>A) c.1306T>A (p.Phe436Ile) c.1071+250T>A (n.1071+250T>A) c.1168T>A (p.Phe390Ile) c.72+250T>A (n.72+250T>A) c.1183T>A (p.Phe395Ile) n.787T>A n.3617T>A c.1171T>A (p.Phe391Ile) c.1180T>A (p.Phe394Ile) n.497T>A c.*1050T>A (n.*1050T>A) c.471+250T>A (n.471+250T>A) c.520T>A (p.Phe174Ile) | |
11 | g.1753556_1753557del | CA597430604 | CTSD | c.1188_1189del (p.Phe397Ter) c.1083_1084del (p.Phe362Ter) c.613_614del c.*354_*355del (n.*354_*355del) c.1305_1306del (p.Phe436Ter) c.1071+249_1071+250del (n.1071+249_1071+250del) c.1167_1168del (p.Phe390Ter) c.72+249_72+250del (n.72+249_72+250del) c.1182_1183del (p.Phe395Ter) n.786_787del n.3616_3617del c.1170_1171del (p.Phe391Ter) c.1179_1180del (p.Phe394Ter) n.496_497del c.*1049_*1050del (n.*1049_*1050del) c.471+249_471+250del (n.471+249_471+250del) c.519_520del (p.Phe174Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753554C>A | CA472139756 | CTSD | c.1188G>T (p.Val396=) c.1083G>T (p.Val361=) c.613G>T c.*354G>T (n.*354G>T) c.1305G>T (p.Val435=) c.1071+249G>T (n.1071+249G>T) c.1167G>T (p.Val389=) c.72+249G>T (n.72+249G>T) c.1182G>T (p.Val394=) n.786G>T n.3616G>T c.1170G>T (p.Val390=) c.1179G>T (p.Val393=) n.496G>T c.*1049G>T (n.*1049G>T) c.471+249G>T (n.471+249G>T) c.519G>T (p.Val173=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753554C= | CA1947825111 | CTSD | c.1188G= (p.Val396=) c.1083G= (p.Val361=) c.613G= c.*354G= (n.*354G=) c.1305G= (p.Val435=) c.1071+249G= (n.1071+249G=) c.1167G= (p.Val389=) c.72+249G= (n.72+249G=) c.1182G= (p.Val394=) n.786G= n.3616G= c.1170G= (p.Val390=) c.1179G= (p.Val393=) n.496G= c.*1049G= (n.*1049G=) c.471+249G= (n.471+249G=) c.519G= (p.Val173=) | |
11 | g.1753554C>G | CA472139752 | CTSD | c.1188G>C (p.Val396=) c.1083G>C (p.Val361=) c.613G>C c.*354G>C (n.*354G>C) c.1305G>C (p.Val435=) c.1071+249G>C (n.1071+249G>C) c.1167G>C (p.Val389=) c.72+249G>C (n.72+249G>C) c.1182G>C (p.Val394=) n.786G>C n.3616G>C c.1170G>C (p.Val390=) c.1179G>C (p.Val393=) n.496G>C c.*1049G>C (n.*1049G>C) c.471+249G>C (n.471+249G>C) c.519G>C (p.Val173=) | gnomAD v4 |
11 | g.1753554C>T | CA472139754 | CTSD | c.1188G>A (p.Val396=) c.1083G>A (p.Val361=) c.613G>A c.*354G>A (n.*354G>A) c.1305G>A (p.Val435=) c.1071+249G>A (n.1071+249G>A) c.1167G>A (p.Val389=) c.72+249G>A (n.72+249G>A) c.1182G>A (p.Val394=) n.786G>A n.3616G>A c.1170G>A (p.Val390=) c.1179G>A (p.Val393=) n.496G>A c.*1049G>A (n.*1049G>A) c.471+249G>A (n.471+249G>A) c.519G>A (p.Val173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753561_1753562insCAATCACAGTGT | CA2574736127 | CTSD | c.1188_1189insATTGACACTGTG (p.Val396_Phe397insIleAspThrVal) c.1083_1084insATTGACACTGTG (p.Val361_Phe362insIleAspThrVal) c.613_614insATTGACACTGTG c.*354_*355insATTGACACTGTG (n.*354_*355insATTGACACTGTG) c.1305_1306insATTGACACTGTG (p.Val435_Phe436insIleAspThrVal) c.1071+249_1071+250insATTGACACTGTG (n.1071+249_1071+250insATTGACACTGTG) c.1167_1168insATTGACACTGTG (p.Val389_Phe390insIleAspThrVal) c.72+249_72+250insATTGACACTGTG (n.72+249_72+250insATTGACACTGTG) c.1182_1183insATTGACACTGTG (p.Val394_Phe395insIleAspThrVal) n.786_787insATTGACACTGTG n.3616_3617insATTGACACTGTG c.1170_1171insATTGACACTGTG (p.Val390_Phe391insIleAspThrVal) c.1179_1180insATTGACACTGTG (p.Val393_Phe394insIleAspThrVal) n.496_497insATTGACACTGTG c.*1049_*1050insATTGACACTGTG (n.*1049_*1050insATTGACACTGTG) c.471+249_471+250insATTGACACTGTG (n.471+249_471+250insATTGACACTGTG) c.519_520insATTGACACTGTG (p.Val173_Phe174insIleAspThrVal) | |
11 | g.1753555A>C | CA379092410 | CTSD | c.1187T>G (p.Val396Gly) c.1082T>G (p.Val361Gly) c.612T>G c.*353T>G (n.*353T>G) c.1304T>G (p.Val435Gly) c.1071+248T>G (n.1071+248T>G) c.1166T>G (p.Val389Gly) c.72+248T>G (n.72+248T>G) c.1181T>G (p.Val394Gly) n.785T>G n.3615T>G c.1169T>G (p.Val390Gly) c.1178T>G (p.Val393Gly) n.495T>G c.*1048T>G (n.*1048T>G) c.471+248T>G (n.471+248T>G) c.518T>G (p.Val173Gly) | |
11 | g.1753555A>G | CA379092409 | CTSD | c.1187T>C (p.Val396Ala) c.1082T>C (p.Val361Ala) c.612T>C c.*353T>C (n.*353T>C) c.1304T>C (p.Val435Ala) c.1071+248T>C (n.1071+248T>C) c.1166T>C (p.Val389Ala) c.72+248T>C (n.72+248T>C) c.1181T>C (p.Val394Ala) n.785T>C n.3615T>C c.1169T>C (p.Val390Ala) c.1178T>C (p.Val393Ala) n.495T>C c.*1048T>C (n.*1048T>C) c.471+248T>C (n.471+248T>C) c.518T>C (p.Val173Ala) | |
11 | g.1753555A>T | CA379092408 | CTSD | c.1187T>A (p.Val396Glu) c.1082T>A (p.Val361Glu) c.612T>A c.*353T>A (n.*353T>A) c.1304T>A (p.Val435Glu) c.1071+248T>A (n.1071+248T>A) c.1166T>A (p.Val389Glu) c.72+248T>A (n.72+248T>A) c.1181T>A (p.Val394Glu) n.785T>A n.3615T>A c.1169T>A (p.Val390Glu) c.1178T>A (p.Val393Glu) n.495T>A c.*1048T>A (n.*1048T>A) c.471+248T>A (n.471+248T>A) c.518T>A (p.Val173Glu) | |
11 | g.1753556C>A | CA379092411 | CTSD | c.1186G>T (p.Val396Leu) c.1081G>T (p.Val361Leu) c.611G>T c.*352G>T (n.*352G>T) c.1303G>T (p.Val435Leu) c.1071+247G>T (n.1071+247G>T) c.1165G>T (p.Val389Leu) c.72+247G>T (n.72+247G>T) c.1180G>T (p.Val394Leu) n.784G>T n.3614G>T c.1168G>T (p.Val390Leu) c.1177G>T (p.Val393Leu) n.494G>T c.*1047G>T (n.*1047G>T) c.471+247G>T (n.471+247G>T) c.517G>T (p.Val173Leu) | |
11 | g.1753556C>G | CA379092412 | CTSD | c.1186G>C (p.Val396Leu) c.1081G>C (p.Val361Leu) c.611G>C c.*352G>C (n.*352G>C) c.1303G>C (p.Val435Leu) c.1071+247G>C (n.1071+247G>C) c.1165G>C (p.Val389Leu) c.72+247G>C (n.72+247G>C) c.1180G>C (p.Val394Leu) n.784G>C n.3614G>C c.1168G>C (p.Val390Leu) c.1177G>C (p.Val393Leu) n.494G>C c.*1047G>C (n.*1047G>C) c.471+247G>C (n.471+247G>C) c.517G>C (p.Val173Leu) | |
11 | g.1753556C>T | CA379092413 | CTSD | c.1186G>A (p.Val396Met) c.1081G>A (p.Val361Met) c.611G>A c.*352G>A (n.*352G>A) c.1303G>A (p.Val435Met) c.1071+247G>A (n.1071+247G>A) c.1165G>A (p.Val389Met) c.72+247G>A (n.72+247G>A) c.1180G>A (p.Val394Met) n.784G>A n.3614G>A c.1168G>A (p.Val390Met) c.1177G>A (p.Val393Met) n.494G>A c.*1047G>A (n.*1047G>A) c.471+247G>A (n.471+247G>A) c.517G>A (p.Val173Met) | |
11 | g.1753557A= | CA1947825112 | CTSD | c.1185T= (p.Thr395=) c.1080T= (p.Thr360=) c.610T= c.*351T= (n.*351T=) c.1302T= (p.Thr434=) c.1071+246T= (n.1071+246T=) c.1164T= (p.Thr388=) c.72+246T= (n.72+246T=) c.1179T= (p.Thr393=) n.783T= n.3613T= c.1167T= (p.Thr389=) c.1176T= (p.Thr392=) n.493T= c.*1046T= (n.*1046T=) c.471+246T= (n.471+246T=) c.516T= (p.Thr172=) | |
11 | g.1753557A>C | CA472139769 | CTSD | c.1185T>G (p.Thr395=) c.1080T>G (p.Thr360=) c.610T>G c.*351T>G (n.*351T>G) c.1302T>G (p.Thr434=) c.1071+246T>G (n.1071+246T>G) c.1164T>G (p.Thr388=) c.72+246T>G (n.72+246T>G) c.1179T>G (p.Thr393=) n.783T>G n.3613T>G c.1167T>G (p.Thr389=) c.1176T>G (p.Thr392=) n.493T>G c.*1046T>G (n.*1046T>G) c.471+246T>G (n.471+246T>G) c.516T>G (p.Thr172=) | ClinVar dbSNP gnomAD v4 |
11 | g.1753557A>G | CA472139772 | CTSD | c.1185T>C (p.Thr395=) c.1080T>C (p.Thr360=) c.610T>C c.*351T>C (n.*351T>C) c.1302T>C (p.Thr434=) c.1071+246T>C (n.1071+246T>C) c.1164T>C (p.Thr388=) c.72+246T>C (n.72+246T>C) c.1179T>C (p.Thr393=) n.783T>C n.3613T>C c.1167T>C (p.Thr389=) c.1176T>C (p.Thr392=) n.493T>C c.*1046T>C (n.*1046T>C) c.471+246T>C (n.471+246T>C) c.516T>C (p.Thr172=) | ClinVar gnomAD v4 |
11 | g.1753557A>T | CA472139771 | CTSD | c.1185T>A (p.Thr395=) c.1080T>A (p.Thr360=) c.610T>A c.*351T>A (n.*351T>A) c.1302T>A (p.Thr434=) c.1071+246T>A (n.1071+246T>A) c.1164T>A (p.Thr388=) c.72+246T>A (n.72+246T>A) c.1179T>A (p.Thr393=) n.783T>A n.3613T>A c.1167T>A (p.Thr389=) c.1176T>A (p.Thr392=) n.493T>A c.*1046T>A (n.*1046T>A) c.471+246T>A (n.471+246T>A) c.516T>A (p.Thr172=) | gnomAD v4 |
11 | g.1753558G>A | CA379092414 | CTSD | c.1184C>T (p.Thr395Ile) c.1079C>T (p.Thr360Ile) c.609C>T c.*350C>T (n.*350C>T) c.1301C>T (p.Thr434Ile) c.1071+245C>T (n.1071+245C>T) c.1163C>T (p.Thr388Ile) c.72+245C>T (n.72+245C>T) c.1178C>T (p.Thr393Ile) n.782C>T n.3612C>T c.1166C>T (p.Thr389Ile) c.1175C>T (p.Thr392Ile) n.492C>T c.*1045C>T (n.*1045C>T) c.471+245C>T (n.471+245C>T) c.515C>T (p.Thr172Ile) | |
11 | g.1753558G>C | CA379092415 | CTSD | c.1184C>G (p.Thr395Ser) c.1079C>G (p.Thr360Ser) c.609C>G c.*350C>G (n.*350C>G) c.1301C>G (p.Thr434Ser) c.1071+245C>G (n.1071+245C>G) c.1163C>G (p.Thr388Ser) c.72+245C>G (n.72+245C>G) c.1178C>G (p.Thr393Ser) n.782C>G n.3612C>G c.1166C>G (p.Thr389Ser) c.1175C>G (p.Thr392Ser) n.492C>G c.*1045C>G (n.*1045C>G) c.471+245C>G (n.471+245C>G) c.515C>G (p.Thr172Ser) | |
11 | g.1753558G>T | CA379092416 | CTSD | c.1184C>A (p.Thr395Asn) c.1079C>A (p.Thr360Asn) c.609C>A c.*350C>A (n.*350C>A) c.1301C>A (p.Thr434Asn) c.1071+245C>A (n.1071+245C>A) c.1163C>A (p.Thr388Asn) c.72+245C>A (n.72+245C>A) c.1178C>A (p.Thr393Asn) n.782C>A n.3612C>A c.1166C>A (p.Thr389Asn) c.1175C>A (p.Thr392Asn) n.492C>A c.*1045C>A (n.*1045C>A) c.471+245C>A (n.471+245C>A) c.515C>A (p.Thr172Asn) | |
11 | g.1753559T>A | CA379092418 | CTSD | c.1183A>T (p.Thr395Ser) c.1078A>T (p.Thr360Ser) c.608A>T c.*349A>T (n.*349A>T) c.1300A>T (p.Thr434Ser) c.1071+244A>T (n.1071+244A>T) c.1162A>T (p.Thr388Ser) c.72+244A>T (n.72+244A>T) c.1177A>T (p.Thr393Ser) n.781A>T n.3611A>T c.1165A>T (p.Thr389Ser) c.1174A>T (p.Thr392Ser) n.491A>T c.*1044A>T (n.*1044A>T) c.471+244A>T (n.471+244A>T) c.514A>T (p.Thr172Ser) | gnomAD v4 |
11 | g.1753559T>C | CA5813878 | CTSD | c.1183A>G (p.Thr395Ala) c.1078A>G (p.Thr360Ala) c.608A>G c.*349A>G (n.*349A>G) c.1300A>G (p.Thr434Ala) c.1071+244A>G (n.1071+244A>G) c.1162A>G (p.Thr388Ala) c.72+244A>G (n.72+244A>G) c.1177A>G (p.Thr393Ala) n.781A>G n.3611A>G c.1165A>G (p.Thr389Ala) c.1174A>G (p.Thr392Ala) n.491A>G c.*1044A>G (n.*1044A>G) c.471+244A>G (n.471+244A>G) c.514A>G (p.Thr172Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753559T>G | CA379092417 | CTSD | c.1183A>C (p.Thr395Pro) c.1078A>C (p.Thr360Pro) c.608A>C c.*349A>C (n.*349A>C) c.1300A>C (p.Thr434Pro) c.1071+244A>C (n.1071+244A>C) c.1162A>C (p.Thr388Pro) c.72+244A>C (n.72+244A>C) c.1177A>C (p.Thr393Pro) n.781A>C n.3611A>C c.1165A>C (p.Thr389Pro) c.1174A>C (p.Thr392Pro) n.491A>C c.*1044A>C (n.*1044A>C) c.471+244A>C (n.471+244A>C) c.514A>C (p.Thr172Pro) | |
11 | g.1753559T= | CA1947825113 | CTSD | c.1183A= (p.Thr395=) c.1078A= (p.Thr360=) c.608A= c.*349A= (n.*349A=) c.1300A= (p.Thr434=) c.1071+244A= (n.1071+244A=) c.1162A= (p.Thr388=) c.72+244A= (n.72+244A=) c.1177A= (p.Thr393=) n.781A= n.3611A= c.1165A= (p.Thr389=) c.1174A= (p.Thr392=) n.491A= c.*1044A= (n.*1044A=) c.471+244A= (n.471+244A=) c.514A= (p.Thr172=) | |
11 | g.1753560G>A | CA216168559 | CTSD | c.1182C>T (p.Tyr394=) c.1077C>T (p.Tyr359=) c.607C>T c.*348C>T (n.*348C>T) c.1299C>T (p.Tyr433=) c.1071+243C>T (n.1071+243C>T) c.1161C>T (p.Tyr387=) c.72+243C>T (n.72+243C>T) c.1176C>T (p.Tyr392=) n.780C>T n.3610C>T c.1164C>T (p.Tyr388=) c.1173C>T (p.Tyr391=) n.490C>T c.*1043C>T (n.*1043C>T) c.471+243C>T (n.471+243C>T) c.513C>T (p.Tyr171=) | ClinVar dbSNP |
11 | g.1753560G>C | CA379092420 | CTSD | c.1182C>G (p.Tyr394Ter) c.1077C>G (p.Tyr359Ter) c.607C>G c.*348C>G (n.*348C>G) c.1299C>G (p.Tyr433Ter) c.1071+243C>G (n.1071+243C>G) c.1161C>G (p.Tyr387Ter) c.72+243C>G (n.72+243C>G) c.1176C>G (p.Tyr392Ter) n.780C>G n.3610C>G c.1164C>G (p.Tyr388Ter) c.1173C>G (p.Tyr391Ter) n.490C>G c.*1043C>G (n.*1043C>G) c.471+243C>G (n.471+243C>G) c.513C>G (p.Tyr171Ter) | |
11 | g.1753560G= | CA1947825114 | CTSD | c.1182C= (p.Tyr394=) c.1077C= (p.Tyr359=) c.607C= c.*348C= (n.*348C=) c.1299C= (p.Tyr433=) c.1071+243C= (n.1071+243C=) c.1161C= (p.Tyr387=) c.72+243C= (n.72+243C=) c.1176C= (p.Tyr392=) n.780C= n.3610C= c.1164C= (p.Tyr388=) c.1173C= (p.Tyr391=) n.490C= c.*1043C= (n.*1043C=) c.471+243C= (n.471+243C=) c.513C= (p.Tyr171=) | |
11 | g.1753560G>T | CA379092421 | CTSD | c.1182C>A (p.Tyr394Ter) c.1077C>A (p.Tyr359Ter) c.607C>A c.*348C>A (n.*348C>A) c.1299C>A (p.Tyr433Ter) c.1071+243C>A (n.1071+243C>A) c.1161C>A (p.Tyr387Ter) c.72+243C>A (n.72+243C>A) c.1176C>A (p.Tyr392Ter) n.780C>A n.3610C>A c.1164C>A (p.Tyr388Ter) c.1173C>A (p.Tyr391Ter) n.490C>A c.*1043C>A (n.*1043C>A) c.471+243C>A (n.471+243C>A) c.513C>A (p.Tyr171Ter) | |
11 | g.1753561T>A | CA379092422 | CTSD | c.1181A>T (p.Tyr394Phe) c.1076A>T (p.Tyr359Phe) c.606A>T c.*347A>T (n.*347A>T) c.1298A>T (p.Tyr433Phe) c.1071+242A>T (n.1071+242A>T) c.1160A>T (p.Tyr387Phe) c.72+242A>T (n.72+242A>T) c.1175A>T (p.Tyr392Phe) n.779A>T n.3609A>T c.1163A>T (p.Tyr388Phe) c.1172A>T (p.Tyr391Phe) n.489A>T c.*1042A>T (n.*1042A>T) c.471+242A>T (n.471+242A>T) c.512A>T (p.Tyr171Phe) | |
11 | g.1753561T>C | CA379092423 | CTSD | c.1181A>G (p.Tyr394Cys) c.1076A>G (p.Tyr359Cys) c.606A>G c.*347A>G (n.*347A>G) c.1298A>G (p.Tyr433Cys) c.1071+242A>G (n.1071+242A>G) c.1160A>G (p.Tyr387Cys) c.72+242A>G (n.72+242A>G) c.1175A>G (p.Tyr392Cys) n.779A>G n.3609A>G c.1163A>G (p.Tyr388Cys) c.1172A>G (p.Tyr391Cys) n.489A>G c.*1042A>G (n.*1042A>G) c.471+242A>G (n.471+242A>G) c.512A>G (p.Tyr171Cys) | gnomAD v4 |
11 | g.1753561T>G | CA379092424 | CTSD | c.1181A>C (p.Tyr394Ser) c.1076A>C (p.Tyr359Ser) c.606A>C c.*347A>C (n.*347A>C) c.1298A>C (p.Tyr433Ser) c.1071+242A>C (n.1071+242A>C) c.1160A>C (p.Tyr387Ser) c.72+242A>C (n.72+242A>C) c.1175A>C (p.Tyr392Ser) n.779A>C n.3609A>C c.1163A>C (p.Tyr388Ser) c.1172A>C (p.Tyr391Ser) n.489A>C c.*1042A>C (n.*1042A>C) c.471+242A>C (n.471+242A>C) c.512A>C (p.Tyr171Ser) | |
11 | g.1753562A>C | CA379092425 | CTSD | c.1180T>G (p.Tyr394Asp) c.1075T>G (p.Tyr359Asp) c.605T>G c.*346T>G (n.*346T>G) c.1297T>G (p.Tyr433Asp) c.1071+241T>G (n.1071+241T>G) c.1159T>G (p.Tyr387Asp) c.72+241T>G (n.72+241T>G) c.1174T>G (p.Tyr392Asp) n.778T>G n.3608T>G c.1162T>G (p.Tyr388Asp) c.1171T>G (p.Tyr391Asp) n.488T>G c.*1041T>G (n.*1041T>G) c.471+241T>G (n.471+241T>G) c.511T>G (p.Tyr171Asp) | |
11 | g.1753562A>G | CA379092427 | CTSD | c.1180T>C (p.Tyr394His) c.1075T>C (p.Tyr359His) c.605T>C c.*346T>C (n.*346T>C) c.1297T>C (p.Tyr433His) c.1071+241T>C (n.1071+241T>C) c.1159T>C (p.Tyr387His) c.72+241T>C (n.72+241T>C) c.1174T>C (p.Tyr392His) n.778T>C n.3608T>C c.1162T>C (p.Tyr388His) c.1171T>C (p.Tyr391His) n.488T>C c.*1041T>C (n.*1041T>C) c.471+241T>C (n.471+241T>C) c.511T>C (p.Tyr171His) | |
11 | g.1753562A>T | CA379092426 | CTSD | c.1180T>A (p.Tyr394Asn) c.1075T>A (p.Tyr359Asn) c.605T>A c.*346T>A (n.*346T>A) c.1297T>A (p.Tyr433Asn) c.1071+241T>A (n.1071+241T>A) c.1159T>A (p.Tyr387Asn) c.72+241T>A (n.72+241T>A) c.1174T>A (p.Tyr392Asn) n.778T>A n.3608T>A c.1162T>A (p.Tyr388Asn) c.1171T>A (p.Tyr391Asn) n.488T>A c.*1041T>A (n.*1041T>A) c.471+241T>A (n.471+241T>A) c.511T>A (p.Tyr171Asn) | gnomAD v4 |
11 | g.1753563G>A | CA472139809 | CTSD | c.1179C>T (p.Tyr393=) c.1074C>T (p.Tyr358=) c.604C>T c.*345C>T (n.*345C>T) c.1296C>T (p.Tyr432=) c.1071+240C>T (n.1071+240C>T) c.1158C>T (p.Tyr386=) c.72+240C>T (n.72+240C>T) c.1173C>T (p.Tyr391=) n.777C>T n.3607C>T c.1161C>T (p.Tyr387=) c.1170C>T (p.Tyr390=) n.487C>T c.*1040C>T (n.*1040C>T) c.471+240C>T (n.471+240C>T) c.510C>T (p.Tyr170=) | |
11 | g.1753563G>C | CA379092428 | CTSD | c.1179C>G (p.Tyr393Ter) c.1074C>G (p.Tyr358Ter) c.604C>G c.*345C>G (n.*345C>G) c.1296C>G (p.Tyr432Ter) c.1071+240C>G (n.1071+240C>G) c.1158C>G (p.Tyr386Ter) c.72+240C>G (n.72+240C>G) c.1173C>G (p.Tyr391Ter) n.777C>G n.3607C>G c.1161C>G (p.Tyr387Ter) c.1170C>G (p.Tyr390Ter) n.487C>G c.*1040C>G (n.*1040C>G) c.471+240C>G (n.471+240C>G) c.510C>G (p.Tyr170Ter) | |
11 | g.1753563G>T | CA379092429 | CTSD | c.1179C>A (p.Tyr393Ter) c.1074C>A (p.Tyr358Ter) c.604C>A c.*345C>A (n.*345C>A) c.1296C>A (p.Tyr432Ter) c.1071+240C>A (n.1071+240C>A) c.1158C>A (p.Tyr386Ter) c.72+240C>A (n.72+240C>A) c.1173C>A (p.Tyr391Ter) n.777C>A n.3607C>A c.1161C>A (p.Tyr387Ter) c.1170C>A (p.Tyr390Ter) n.487C>A c.*1040C>A (n.*1040C>A) c.471+240C>A (n.471+240C>A) c.510C>A (p.Tyr170Ter) | |
11 | g.1753564T>A | CA379092431 | CTSD | c.1178A>T (p.Tyr393Phe) c.1073A>T (p.Tyr358Phe) c.603A>T c.*344A>T (n.*344A>T) c.1295A>T (p.Tyr432Phe) c.1071+239A>T (n.1071+239A>T) c.1157A>T (p.Tyr386Phe) c.72+239A>T (n.72+239A>T) c.1172A>T (p.Tyr391Phe) n.776A>T n.3606A>T c.1160A>T (p.Tyr387Phe) c.1169A>T (p.Tyr390Phe) n.486A>T c.*1039A>T (n.*1039A>T) c.471+239A>T (n.471+239A>T) c.509A>T (p.Tyr170Phe) | |
11 | g.1753564T>C | CA379092432 | CTSD | c.1178A>G (p.Tyr393Cys) c.1073A>G (p.Tyr358Cys) c.603A>G c.*344A>G (n.*344A>G) c.1295A>G (p.Tyr432Cys) c.1071+239A>G (n.1071+239A>G) c.1157A>G (p.Tyr386Cys) c.72+239A>G (n.72+239A>G) c.1172A>G (p.Tyr391Cys) n.776A>G n.3606A>G c.1160A>G (p.Tyr387Cys) c.1169A>G (p.Tyr390Cys) n.486A>G c.*1039A>G (n.*1039A>G) c.471+239A>G (n.471+239A>G) c.509A>G (p.Tyr170Cys) | COSMIC |
11 | g.1753564T>G | CA379092433 | CTSD | c.1178A>C (p.Tyr393Ser) c.1073A>C (p.Tyr358Ser) c.603A>C c.*344A>C (n.*344A>C) c.1295A>C (p.Tyr432Ser) c.1071+239A>C (n.1071+239A>C) c.1157A>C (p.Tyr386Ser) c.72+239A>C (n.72+239A>C) c.1172A>C (p.Tyr391Ser) n.776A>C n.3606A>C c.1160A>C (p.Tyr387Ser) c.1169A>C (p.Tyr390Ser) n.486A>C c.*1039A>C (n.*1039A>C) c.471+239A>C (n.471+239A>C) c.509A>C (p.Tyr170Ser) | |
11 | g.1753565A>C | CA379092434 | CTSD | c.1177T>G (p.Tyr393Asp) c.1072T>G (p.Tyr358Asp) c.602T>G c.*343T>G (n.*343T>G) c.1294T>G (p.Tyr432Asp) c.1071+238T>G (n.1071+238T>G) c.1156T>G (p.Tyr386Asp) c.72+238T>G (n.72+238T>G) c.1171T>G (p.Tyr391Asp) n.775T>G n.3605T>G c.1159T>G (p.Tyr387Asp) c.1168T>G (p.Tyr390Asp) n.485T>G c.*1038T>G (n.*1038T>G) c.471+238T>G (n.471+238T>G) c.508T>G (p.Tyr170Asp) | |
11 | g.1753565A>G | CA379092435 | CTSD | c.1177T>C (p.Tyr393His) c.1072T>C (p.Tyr358His) c.602T>C c.*343T>C (n.*343T>C) c.1294T>C (p.Tyr432His) c.1071+238T>C (n.1071+238T>C) c.1156T>C (p.Tyr386His) c.72+238T>C (n.72+238T>C) c.1171T>C (p.Tyr391His) n.775T>C n.3605T>C c.1159T>C (p.Tyr387His) c.1168T>C (p.Tyr390His) n.485T>C c.*1038T>C (n.*1038T>C) c.471+238T>C (n.471+238T>C) c.508T>C (p.Tyr170His) | |
11 | g.1753565A>T | CA379092436 | CTSD | c.1177T>A (p.Tyr393Asn) c.1072T>A (p.Tyr358Asn) c.602T>A c.*343T>A (n.*343T>A) c.1294T>A (p.Tyr432Asn) c.1071+238T>A (n.1071+238T>A) c.1156T>A (p.Tyr386Asn) c.72+238T>A (n.72+238T>A) c.1171T>A (p.Tyr391Asn) n.775T>A n.3605T>A c.1159T>A (p.Tyr387Asn) c.1168T>A (p.Tyr390Asn) n.485T>A c.*1038T>A (n.*1038T>A) c.471+238T>A (n.471+238T>A) c.508T>A (p.Tyr170Asn) | |
11 | g.1753565_1753567delinsAGC | CA1947825115 | CTSD | c.1175_1177delinsGCT (p.Arg392=) c.1070_1072delinsGCT (p.Arg357=) c.600_602delinsGCT c.*341_*343delinsGCT (n.*341_*343delinsGCT) c.1292_1294delinsGCT (p.Arg431=) c.1071+236_1071+238delinsGCT (n.1071+236_1071+238delinsGCT) c.1154_1156delinsGCT (p.Arg385=) c.72+236_72+238delinsGCT (n.72+236_72+238delinsGCT) c.1169_1171delinsGCT (p.Arg390=) n.773_775delinsGCT n.3603_3605delinsGCT c.1157_1159delinsGCT (p.Arg386=) c.1166_1168delinsGCT (p.Arg389=) n.483_485delinsGCT c.*1036_*1038delinsGCT (n.*1036_*1038delinsGCT) c.471+236_471+238delinsGCT (n.471+236_471+238delinsGCT) c.506_508delinsGCT (p.Arg169=) | |
11 | g.1753566G>A | CA472139822 | CTSD | c.1176C>T (p.Arg392=) c.1071C>T (p.Arg357=) c.601C>T c.*342C>T (n.*342C>T) c.1293C>T (p.Arg431=) c.1071+237C>T (n.1071+237C>T) c.1155C>T (p.Arg385=) c.72+237C>T (n.72+237C>T) c.1170C>T (p.Arg390=) n.774C>T n.3604C>T c.1158C>T (p.Arg386=) c.1167C>T (p.Arg389=) n.484C>T c.*1037C>T (n.*1037C>T) c.471+237C>T (n.471+237C>T) c.507C>T (p.Arg169=) | |
11 | g.1753566G>C | CA472139824 | CTSD | c.1176C>G (p.Arg392=) c.1071C>G (p.Arg357=) c.601C>G c.*342C>G (n.*342C>G) c.1293C>G (p.Arg431=) c.1071+237C>G (n.1071+237C>G) c.1155C>G (p.Arg385=) c.72+237C>G (n.72+237C>G) c.1170C>G (p.Arg390=) n.774C>G n.3604C>G c.1158C>G (p.Arg386=) c.1167C>G (p.Arg389=) n.484C>G c.*1037C>G (n.*1037C>G) c.471+237C>G (n.471+237C>G) c.507C>G (p.Arg169=) | |
11 | g.1753566G>T | CA472139826 | CTSD | c.1176C>A (p.Arg392=) c.1071C>A (p.Arg357=) c.601C>A c.*342C>A (n.*342C>A) c.1293C>A (p.Arg431=) c.1071+237C>A (n.1071+237C>A) c.1155C>A (p.Arg385=) c.72+237C>A (n.72+237C>A) c.1170C>A (p.Arg390=) n.774C>A n.3604C>A c.1158C>A (p.Arg386=) c.1167C>A (p.Arg389=) n.484C>A c.*1037C>A (n.*1037C>A) c.471+237C>A (n.471+237C>A) c.507C>A (p.Arg169=) | ClinVar |
11 | g.1753567_1753568del | CA918804390 | CTSD | c.1175_1176del (p.Arg392LeufsTer6) c.1070_1071del (p.Arg357LeufsTer6) c.600_601del c.*341_*342del (n.*341_*342del) c.1292_1293del (p.Arg431LeufsTer6) c.1071+236_1071+237del (n.1071+236_1071+237del) c.1154_1155del (p.Arg385LeufsTer6) c.72+236_72+237del (n.72+236_72+237del) c.1169_1170del (p.Arg390LeufsTer6) n.773_774del n.3603_3604del c.1157_1158del (p.Arg386LeufsTer6) c.1166_1167del (p.Arg389LeufsTer6) n.483_484del c.*1036_*1037del (n.*1036_*1037del) c.471+236_471+237del (n.471+236_471+237del) c.506_507del (p.Arg169LeufsTer6) | dbSNP |
11 | g.1753567C>A | CA216168582 | CTSD | c.1175G>T (p.Arg392Leu) c.1070G>T (p.Arg357Leu) c.600G>T c.*341G>T (n.*341G>T) c.1292G>T (p.Arg431Leu) c.1071+236G>T (n.1071+236G>T) c.1154G>T (p.Arg385Leu) c.72+236G>T (n.72+236G>T) c.1169G>T (p.Arg390Leu) n.773G>T n.3603G>T c.1157G>T (p.Arg386Leu) c.1166G>T (p.Arg389Leu) n.483G>T c.*1036G>T (n.*1036G>T) c.471+236G>T (n.471+236G>T) c.506G>T (p.Arg169Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.1753567C= | CA1947825116 | CTSD | c.1175G= (p.Arg392=) c.1070G= (p.Arg357=) c.600G= c.*341G= (n.*341G=) c.1292G= (p.Arg431=) c.1071+236G= (n.1071+236G=) c.1154G= (p.Arg385=) c.72+236G= (n.72+236G=) c.1169G= (p.Arg390=) n.773G= n.3603G= c.1157G= (p.Arg386=) c.1166G= (p.Arg389=) n.483G= c.*1036G= (n.*1036G=) c.471+236G= (n.471+236G=) c.506G= (p.Arg169=) | |
11 | g.1753567C>G | CA379092437 | CTSD | c.1175G>C (p.Arg392Pro) c.1070G>C (p.Arg357Pro) c.600G>C c.*341G>C (n.*341G>C) c.1292G>C (p.Arg431Pro) c.1071+236G>C (n.1071+236G>C) c.1154G>C (p.Arg385Pro) c.72+236G>C (n.72+236G>C) c.1169G>C (p.Arg390Pro) n.773G>C n.3603G>C c.1157G>C (p.Arg386Pro) c.1166G>C (p.Arg389Pro) n.483G>C c.*1036G>C (n.*1036G>C) c.471+236G>C (n.471+236G>C) c.506G>C (p.Arg169Pro) | |
11 | g.1753567C>T | CA314332 | CTSD | c.1175G>A (p.Arg392His) c.1070G>A (p.Arg357His) c.600G>A c.*341G>A (n.*341G>A) c.1292G>A (p.Arg431His) c.1071+236G>A (n.1071+236G>A) c.1154G>A (p.Arg385His) c.72+236G>A (n.72+236G>A) c.1169G>A (p.Arg390His) n.773G>A n.3603G>A c.1157G>A (p.Arg386His) c.1166G>A (p.Arg389His) n.483G>A c.*1036G>A (n.*1036G>A) c.471+236G>A (n.471+236G>A) c.506G>A (p.Arg169His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1753568G>A | CA5813879 | CTSD | c.1174C>T (p.Arg392Cys) c.1069C>T (p.Arg357Cys) c.599C>T c.*340C>T (n.*340C>T) c.1291C>T (p.Arg431Cys) c.1071+235C>T (n.1071+235C>T) c.1153C>T (p.Arg385Cys) c.72+235C>T (n.72+235C>T) c.1168C>T (p.Arg390Cys) n.772C>T n.3602C>T c.1156C>T (p.Arg386Cys) c.1165C>T (p.Arg389Cys) n.482C>T c.*1035C>T (n.*1035C>T) c.471+235C>T (n.471+235C>T) c.505C>T (p.Arg169Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1753568G>C | CA379092439 | CTSD | c.1174C>G (p.Arg392Gly) c.1069C>G (p.Arg357Gly) c.599C>G c.*340C>G (n.*340C>G) c.1291C>G (p.Arg431Gly) c.1071+235C>G (n.1071+235C>G) c.1153C>G (p.Arg385Gly) c.72+235C>G (n.72+235C>G) c.1168C>G (p.Arg390Gly) n.772C>G n.3602C>G c.1156C>G (p.Arg386Gly) c.1165C>G (p.Arg389Gly) n.482C>G c.*1035C>G (n.*1035C>G) c.471+235C>G (n.471+235C>G) c.505C>G (p.Arg169Gly) | |
11 | g.1753568G= | CA1947825117 | CTSD | c.1174C= (p.Arg392=) c.1069C= (p.Arg357=) c.599C= c.*340C= (n.*340C=) c.1291C= (p.Arg431=) c.1071+235C= (n.1071+235C=) c.1153C= (p.Arg385=) c.72+235C= (n.72+235C=) c.1168C= (p.Arg390=) n.772C= n.3602C= c.1156C= (p.Arg386=) c.1165C= (p.Arg389=) n.482C= c.*1035C= (n.*1035C=) c.471+235C= (n.471+235C=) c.505C= (p.Arg169=) | |
11 | g.1753568G>T | CA379092438 | CTSD | c.1174C>A (p.Arg392Ser) c.1069C>A (p.Arg357Ser) c.599C>A c.*340C>A (n.*340C>A) c.1291C>A (p.Arg431Ser) c.1071+235C>A (n.1071+235C>A) c.1153C>A (p.Arg385Ser) c.72+235C>A (n.72+235C>A) c.1168C>A (p.Arg390Ser) n.772C>A n.3602C>A c.1156C>A (p.Arg386Ser) c.1165C>A (p.Arg389Ser) n.482C>A c.*1035C>A (n.*1035C>A) c.471+235C>A (n.471+235C>A) c.505C>A (p.Arg169Ser) | |
11 | g.1753569G>A | CA472139836 | CTSD | c.1173C>T (p.Gly391=) c.1068C>T (p.Gly356=) c.598C>T c.*339C>T (n.*339C>T) c.1290C>T (p.Gly430=) c.1071+234C>T (n.1071+234C>T) c.1152C>T (p.Gly384=) c.72+234C>T (n.72+234C>T) c.1167C>T (p.Gly389=) n.771C>T n.3601C>T c.1155C>T (p.Gly385=) c.1164C>T (p.Gly388=) n.481C>T c.*1034C>T (n.*1034C>T) c.471+234C>T (n.471+234C>T) c.504C>T (p.Gly168=) | |
11 | g.1753569G>C | CA472139838 | CTSD | c.1173C>G (p.Gly391=) c.1068C>G (p.Gly356=) c.598C>G c.*339C>G (n.*339C>G) c.1290C>G (p.Gly430=) c.1071+234C>G (n.1071+234C>G) c.1152C>G (p.Gly384=) c.72+234C>G (n.72+234C>G) c.1167C>G (p.Gly389=) n.771C>G n.3601C>G c.1155C>G (p.Gly385=) c.1164C>G (p.Gly388=) n.481C>G c.*1034C>G (n.*1034C>G) c.471+234C>G (n.471+234C>G) c.504C>G (p.Gly168=) | |
11 | g.1753569G= | CA1947825118 | CTSD | c.1173C= (p.Gly391=) c.1068C= (p.Gly356=) c.598C= c.*339C= (n.*339C=) c.1290C= (p.Gly430=) c.1071+234C= (n.1071+234C=) c.1152C= (p.Gly384=) c.72+234C= (n.72+234C=) c.1167C= (p.Gly389=) n.771C= n.3601C= c.1155C= (p.Gly385=) c.1164C= (p.Gly388=) n.481C= c.*1034C= (n.*1034C=) c.471+234C= (n.471+234C=) c.504C= (p.Gly168=) | |
11 | g.1753569G>T | CA472139840 | CTSD | c.1173C>A (p.Gly391=) c.1068C>A (p.Gly356=) c.598C>A c.*339C>A (n.*339C>A) c.1290C>A (p.Gly430=) c.1071+234C>A (n.1071+234C>A) c.1152C>A (p.Gly384=) c.72+234C>A (n.72+234C>A) c.1167C>A (p.Gly389=) n.771C>A n.3601C>A c.1155C>A (p.Gly385=) c.1164C>A (p.Gly388=) n.481C>A c.*1034C>A (n.*1034C>A) c.471+234C>A (n.471+234C>A) c.504C>A (p.Gly168=) | |
11 | g.1753569_1753570insAA | CA918804391 | CTSD | c.1172_1173insTT (p.Arg392SerfsTer?) c.1067_1068insTT (p.Arg357SerfsTer?) c.597_598insTT c.*338_*339insTT (n.*338_*339insTT) c.1289_1290insTT (p.Arg431SerfsTer?) c.1071+233_1071+234insTT (n.1071+233_1071+234insTT) c.1151_1152insTT (p.Arg385SerfsTer?) c.72+233_72+234insTT (n.72+233_72+234insTT) c.1166_1167insTT (p.Arg390SerfsTer?) n.770_771insTT n.3600_3601insTT c.1154_1155insTT (p.Arg386SerfsTer?) c.1163_1164insTT (p.Arg389SerfsTer?) n.480_481insTT c.*1033_*1034insTT (n.*1033_*1034insTT) c.471+233_471+234insTT (n.471+233_471+234insTT) c.503_504insTT (p.Arg169SerfsTer?) | dbSNP |
11 | g.1753570C>A | CA379092440 | CTSD | c.1172G>T (p.Gly391Val) c.1067G>T (p.Gly356Val) c.597G>T c.*338G>T (n.*338G>T) c.1289G>T (p.Gly430Val) c.1071+233G>T (n.1071+233G>T) c.1151G>T (p.Gly384Val) c.72+233G>T (n.72+233G>T) c.1166G>T (p.Gly389Val) n.770G>T n.3600G>T c.1154G>T (p.Gly385Val) c.1163G>T (p.Gly388Val) n.480G>T c.*1033G>T (n.*1033G>T) c.471+233G>T (n.471+233G>T) c.503G>T (p.Gly168Val) | |
11 | g.1753570C>G | CA379092442 | CTSD | c.1172G>C (p.Gly391Ala) c.1067G>C (p.Gly356Ala) c.597G>C c.*338G>C (n.*338G>C) c.1289G>C (p.Gly430Ala) c.1071+233G>C (n.1071+233G>C) c.1151G>C (p.Gly384Ala) c.72+233G>C (n.72+233G>C) c.1166G>C (p.Gly389Ala) n.770G>C n.3600G>C c.1154G>C (p.Gly385Ala) c.1163G>C (p.Gly388Ala) n.480G>C c.*1033G>C (n.*1033G>C) c.471+233G>C (n.471+233G>C) c.503G>C (p.Gly168Ala) | gnomAD v4 |
11 | g.1753570C>T | CA379092441 | CTSD | c.1172G>A (p.Gly391Asp) c.1067G>A (p.Gly356Asp) c.597G>A c.*338G>A (n.*338G>A) c.1289G>A (p.Gly430Asp) c.1071+233G>A (n.1071+233G>A) c.1151G>A (p.Gly384Asp) c.72+233G>A (n.72+233G>A) c.1166G>A (p.Gly389Asp) n.770G>A n.3600G>A c.1154G>A (p.Gly385Asp) c.1163G>A (p.Gly388Asp) n.480G>A c.*1033G>A (n.*1033G>A) c.471+233G>A (n.471+233G>A) c.503G>A (p.Gly168Asp) | gnomAD v4 |
11 | g.1753571C>A | CA379092443 | CTSD | c.1171G>T (p.Gly391Cys) c.1066G>T (p.Gly356Cys) c.596G>T c.*337G>T (n.*337G>T) c.1288G>T (p.Gly430Cys) c.1071+232G>T (n.1071+232G>T) c.1150G>T (p.Gly384Cys) c.72+232G>T (n.72+232G>T) c.1165G>T (p.Gly389Cys) n.769G>T n.3599G>T c.1153G>T (p.Gly385Cys) c.1162G>T (p.Gly388Cys) n.479G>T c.*1032G>T (n.*1032G>T) c.471+232G>T (n.471+232G>T) c.502G>T (p.Gly168Cys) | |
11 | g.1753571C= | CA1947825119 | CTSD | c.1171G= (p.Gly391=) c.1066G= (p.Gly356=) c.596G= c.*337G= (n.*337G=) c.1288G= (p.Gly430=) c.1071+232G= (n.1071+232G=) c.1150G= (p.Gly384=) c.72+232G= (n.72+232G=) c.1165G= (p.Gly389=) n.769G= n.3599G= c.1153G= (p.Gly385=) c.1162G= (p.Gly388=) n.479G= c.*1032G= (n.*1032G=) c.471+232G= (n.471+232G=) c.502G= (p.Gly168=) | |
11 | g.1753571C>G | CA379092445 | CTSD | c.1171G>C (p.Gly391Arg) c.1066G>C (p.Gly356Arg) c.596G>C c.*337G>C (n.*337G>C) c.1288G>C (p.Gly430Arg) c.1071+232G>C (n.1071+232G>C) c.1150G>C (p.Gly384Arg) c.72+232G>C (n.72+232G>C) c.1165G>C (p.Gly389Arg) n.769G>C n.3599G>C c.1153G>C (p.Gly385Arg) c.1162G>C (p.Gly388Arg) n.479G>C c.*1032G>C (n.*1032G>C) c.471+232G>C (n.471+232G>C) c.502G>C (p.Gly168Arg) | |
11 | g.1753571C>T | CA5813880 | CTSD | c.1171G>A (p.Gly391Ser) c.1066G>A (p.Gly356Ser) c.596G>A c.*337G>A (n.*337G>A) c.1288G>A (p.Gly430Ser) c.1071+232G>A (n.1071+232G>A) c.1150G>A (p.Gly384Ser) c.72+232G>A (n.72+232G>A) c.1165G>A (p.Gly389Ser) n.769G>A n.3599G>A c.1153G>A (p.Gly385Ser) c.1162G>A (p.Gly388Ser) n.479G>A c.*1032G>A (n.*1032G>A) c.471+232G>A (n.471+232G>A) c.502G>A (p.Gly168Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753572G>A | CA5813881 | CTSD | c.1170C>T (p.Ile390=) c.1065C>T (p.Ile355=) c.595C>T c.*336C>T (n.*336C>T) c.1287C>T (p.Ile429=) c.1071+231C>T (n.1071+231C>T) c.1149C>T (p.Ile383=) c.72+231C>T (n.72+231C>T) c.1164C>T (p.Ile388=) n.768C>T n.3598C>T c.1152C>T (p.Ile384=) c.1161C>T (p.Ile387=) n.478C>T c.*1031C>T (n.*1031C>T) c.471+231C>T (n.471+231C>T) c.501C>T (p.Ile167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753572G>C | CA379092448 | CTSD | c.1170C>G (p.Ile390Met) c.1065C>G (p.Ile355Met) c.595C>G c.*336C>G (n.*336C>G) c.1287C>G (p.Ile429Met) c.1071+231C>G (n.1071+231C>G) c.1149C>G (p.Ile383Met) c.72+231C>G (n.72+231C>G) c.1164C>G (p.Ile388Met) n.768C>G n.3598C>G c.1152C>G (p.Ile384Met) c.1161C>G (p.Ile387Met) n.478C>G c.*1031C>G (n.*1031C>G) c.471+231C>G (n.471+231C>G) c.501C>G (p.Ile167Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753572G= | CA1947825120 | CTSD | c.1170C= (p.Ile390=) c.1065C= (p.Ile355=) c.595C= c.*336C= (n.*336C=) c.1287C= (p.Ile429=) c.1071+231C= (n.1071+231C=) c.1149C= (p.Ile383=) c.72+231C= (n.72+231C=) c.1164C= (p.Ile388=) n.768C= n.3598C= c.1152C= (p.Ile384=) c.1161C= (p.Ile387=) n.478C= c.*1031C= (n.*1031C=) c.471+231C= (n.471+231C=) c.501C= (p.Ile167=) | |
11 | g.1753572G>T | CA472139858 | CTSD | c.1170C>A (p.Ile390=) c.1065C>A (p.Ile355=) c.595C>A c.*336C>A (n.*336C>A) c.1287C>A (p.Ile429=) c.1071+231C>A (n.1071+231C>A) c.1149C>A (p.Ile383=) c.72+231C>A (n.72+231C>A) c.1164C>A (p.Ile388=) n.768C>A n.3598C>A c.1152C>A (p.Ile384=) c.1161C>A (p.Ile387=) n.478C>A c.*1031C>A (n.*1031C>A) c.471+231C>A (n.471+231C>A) c.501C>A (p.Ile167=) | |
11 | g.1753573A>C | CA379092452 | CTSD | c.1169T>G (p.Ile390Ser) c.1064T>G (p.Ile355Ser) c.594T>G c.*335T>G (n.*335T>G) c.1286T>G (p.Ile429Ser) c.1071+230T>G (n.1071+230T>G) c.1148T>G (p.Ile383Ser) c.72+230T>G (n.72+230T>G) c.1163T>G (p.Ile388Ser) n.767T>G n.3597T>G c.1151T>G (p.Ile384Ser) c.1160T>G (p.Ile387Ser) n.477T>G c.*1030T>G (n.*1030T>G) c.471+230T>G (n.471+230T>G) c.500T>G (p.Ile167Ser) | |
11 | g.1753573A>G | CA379092453 | CTSD | c.1169T>C (p.Ile390Thr) c.1064T>C (p.Ile355Thr) c.594T>C c.*335T>C (n.*335T>C) c.1286T>C (p.Ile429Thr) c.1071+230T>C (n.1071+230T>C) c.1148T>C (p.Ile383Thr) c.72+230T>C (n.72+230T>C) c.1163T>C (p.Ile388Thr) n.767T>C n.3597T>C c.1151T>C (p.Ile384Thr) c.1160T>C (p.Ile387Thr) n.477T>C c.*1030T>C (n.*1030T>C) c.471+230T>C (n.471+230T>C) c.500T>C (p.Ile167Thr) | gnomAD v4 |
11 | g.1753573A>T | CA379092454 | CTSD | c.1169T>A (p.Ile390Asn) c.1064T>A (p.Ile355Asn) c.594T>A c.*335T>A (n.*335T>A) c.1286T>A (p.Ile429Asn) c.1071+230T>A (n.1071+230T>A) c.1148T>A (p.Ile383Asn) c.72+230T>A (n.72+230T>A) c.1163T>A (p.Ile388Asn) n.767T>A n.3597T>A c.1151T>A (p.Ile384Asn) c.1160T>A (p.Ile387Asn) n.477T>A c.*1030T>A (n.*1030T>A) c.471+230T>A (n.471+230T>A) c.500T>A (p.Ile167Asn) | |
11 | g.1753574_1753588dup | CA186052 | CTSD | c.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe) c.1050_1064dup (p.Phe354_Ile355insMetGlyAspValPhe) c.580_594dup c.*321_*335dup (n.*321_*335dup) c.1272_1286dup (p.Phe428_Ile429insMetGlyAspValPhe) c.1071+216_1071+230dup (n.1071+216_1071+230dup) c.1134_1148dup (p.Phe382_Ile383insMetGlyAspValPhe) c.72+216_72+230dup (n.72+216_72+230dup) c.1149_1163dup (p.Phe387_Ile388insMetGlyAspValPhe) n.753_767dup n.3583_3597dup c.1137_1151dup (p.Phe383_Ile384insMetGlyAspValPhe) c.1146_1160dup (p.Phe386_Ile387insMetGlyAspValPhe) n.463_477dup c.*1016_*1030dup (n.*1016_*1030dup) c.471+216_471+230dup (n.471+216_471+230dup) c.486_500dup (p.Phe166_Ile167insMetGlyAspValPhe) | ClinVar dbSNP |
11 | g.1753574T>A | CA5813882 | CTSD | c.1168A>T (p.Ile390Phe) c.1063A>T (p.Ile355Phe) c.593A>T c.*334A>T (n.*334A>T) c.1285A>T (p.Ile429Phe) c.1071+229A>T (n.1071+229A>T) c.1147A>T (p.Ile383Phe) c.72+229A>T (n.72+229A>T) c.1162A>T (p.Ile388Phe) n.766A>T n.3596A>T c.1150A>T (p.Ile384Phe) c.1159A>T (p.Ile387Phe) n.476A>T c.*1029A>T (n.*1029A>T) c.471+229A>T (n.471+229A>T) c.499A>T (p.Ile167Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753574T>C | CA379092457 | CTSD | c.1168A>G (p.Ile390Val) c.1063A>G (p.Ile355Val) c.593A>G c.*334A>G (n.*334A>G) c.1285A>G (p.Ile429Val) c.1071+229A>G (n.1071+229A>G) c.1147A>G (p.Ile383Val) c.72+229A>G (n.72+229A>G) c.1162A>G (p.Ile388Val) n.766A>G n.3596A>G c.1150A>G (p.Ile384Val) c.1159A>G (p.Ile387Val) n.476A>G c.*1029A>G (n.*1029A>G) c.471+229A>G (n.471+229A>G) c.499A>G (p.Ile167Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.1753574T>G | CA379092458 | CTSD | c.1168A>C (p.Ile390Leu) c.1063A>C (p.Ile355Leu) c.593A>C c.*334A>C (n.*334A>C) c.1285A>C (p.Ile429Leu) c.1071+229A>C (n.1071+229A>C) c.1147A>C (p.Ile383Leu) c.72+229A>C (n.72+229A>C) c.1162A>C (p.Ile388Leu) n.766A>C n.3596A>C c.1150A>C (p.Ile384Leu) c.1159A>C (p.Ile387Leu) n.476A>C c.*1029A>C (n.*1029A>C) c.471+229A>C (n.471+229A>C) c.499A>C (p.Ile167Leu) | |
11 | g.1753574T= | CA1947825121 | CTSD | c.1168A= (p.Ile390=) c.1063A= (p.Ile355=) c.593A= c.*334A= (n.*334A=) c.1285A= (p.Ile429=) c.1071+229A= (n.1071+229A=) c.1147A= (p.Ile383=) c.72+229A= (n.72+229A=) c.1162A= (p.Ile388=) n.766A= n.3596A= c.1150A= (p.Ile384=) c.1159A= (p.Ile387=) n.476A= c.*1029A= (n.*1029A=) c.471+229A= (n.471+229A=) c.499A= (p.Ile167=) | |
11 | g.1753575G>A | CA472139875 | CTSD | c.1167C>T (p.Phe389=) c.1062C>T (p.Phe354=) c.592C>T c.*333C>T (n.*333C>T) c.1284C>T (p.Phe428=) c.1071+228C>T (n.1071+228C>T) c.1146C>T (p.Phe382=) c.72+228C>T (n.72+228C>T) c.1161C>T (p.Phe387=) n.765C>T n.3595C>T c.1149C>T (p.Phe383=) c.1158C>T (p.Phe386=) n.475C>T c.*1028C>T (n.*1028C>T) c.471+228C>T (n.471+228C>T) c.498C>T (p.Phe166=) | |
11 | g.1753575G>C | CA379092461 | CTSD | c.1167C>G (p.Phe389Leu) c.1062C>G (p.Phe354Leu) c.592C>G c.*333C>G (n.*333C>G) c.1284C>G (p.Phe428Leu) c.1071+228C>G (n.1071+228C>G) c.1146C>G (p.Phe382Leu) c.72+228C>G (n.72+228C>G) c.1161C>G (p.Phe387Leu) n.765C>G n.3595C>G c.1149C>G (p.Phe383Leu) c.1158C>G (p.Phe386Leu) n.475C>G c.*1028C>G (n.*1028C>G) c.471+228C>G (n.471+228C>G) c.498C>G (p.Phe166Leu) | |
11 | g.1753575G>T | CA379092464 | CTSD | c.1167C>A (p.Phe389Leu) c.1062C>A (p.Phe354Leu) c.592C>A c.*333C>A (n.*333C>A) c.1284C>A (p.Phe428Leu) c.1071+228C>A (n.1071+228C>A) c.1146C>A (p.Phe382Leu) c.72+228C>A (n.72+228C>A) c.1161C>A (p.Phe387Leu) n.765C>A n.3595C>A c.1149C>A (p.Phe383Leu) c.1158C>A (p.Phe386Leu) n.475C>A c.*1028C>A (n.*1028C>A) c.471+228C>A (n.471+228C>A) c.498C>A (p.Phe166Leu) | |
11 | g.1753576A>C | CA379092465 | CTSD | c.1166T>G (p.Phe389Cys) c.1061T>G (p.Phe354Cys) c.591T>G c.*332T>G (n.*332T>G) c.1283T>G (p.Phe428Cys) c.1071+227T>G (n.1071+227T>G) c.1145T>G (p.Phe382Cys) c.72+227T>G (n.72+227T>G) c.1160T>G (p.Phe387Cys) n.764T>G n.3594T>G c.1148T>G (p.Phe383Cys) c.1157T>G (p.Phe386Cys) n.474T>G c.*1027T>G (n.*1027T>G) c.471+227T>G (n.471+227T>G) c.497T>G (p.Phe166Cys) | |
11 | g.1753576A>G | CA379092467 | CTSD | c.1166T>C (p.Phe389Ser) c.1061T>C (p.Phe354Ser) c.591T>C c.*332T>C (n.*332T>C) c.1283T>C (p.Phe428Ser) c.1071+227T>C (n.1071+227T>C) c.1145T>C (p.Phe382Ser) c.72+227T>C (n.72+227T>C) c.1160T>C (p.Phe387Ser) n.764T>C n.3594T>C c.1148T>C (p.Phe383Ser) c.1157T>C (p.Phe386Ser) n.474T>C c.*1027T>C (n.*1027T>C) c.471+227T>C (n.471+227T>C) c.497T>C (p.Phe166Ser) | |
11 | g.1753576A>T | CA379092468 | CTSD | c.1166T>A (p.Phe389Tyr) c.1061T>A (p.Phe354Tyr) c.591T>A c.*332T>A (n.*332T>A) c.1283T>A (p.Phe428Tyr) c.1071+227T>A (n.1071+227T>A) c.1145T>A (p.Phe382Tyr) c.72+227T>A (n.72+227T>A) c.1160T>A (p.Phe387Tyr) n.764T>A n.3594T>A c.1148T>A (p.Phe383Tyr) c.1157T>A (p.Phe386Tyr) n.474T>A c.*1027T>A (n.*1027T>A) c.471+227T>A (n.471+227T>A) c.497T>A (p.Phe166Tyr) | |
11 | g.1753577A>C | CA379092470 | CTSD | c.1165T>G (p.Phe389Val) c.1060T>G (p.Phe354Val) c.590T>G c.*331T>G (n.*331T>G) c.1282T>G (p.Phe428Val) c.1071+226T>G (n.1071+226T>G) c.1144T>G (p.Phe382Val) c.72+226T>G (n.72+226T>G) c.1159T>G (p.Phe387Val) n.763T>G n.3593T>G c.1147T>G (p.Phe383Val) c.1156T>G (p.Phe386Val) n.473T>G c.*1026T>G (n.*1026T>G) c.471+226T>G (n.471+226T>G) c.496T>G (p.Phe166Val) | |
11 | g.1753577A>G | CA379092474 | CTSD | c.1165T>C (p.Phe389Leu) c.1060T>C (p.Phe354Leu) c.590T>C c.*331T>C (n.*331T>C) c.1282T>C (p.Phe428Leu) c.1071+226T>C (n.1071+226T>C) c.1144T>C (p.Phe382Leu) c.72+226T>C (n.72+226T>C) c.1159T>C (p.Phe387Leu) n.763T>C n.3593T>C c.1147T>C (p.Phe383Leu) c.1156T>C (p.Phe386Leu) n.473T>C c.*1026T>C (n.*1026T>C) c.471+226T>C (n.471+226T>C) c.496T>C (p.Phe166Leu) | |
11 | g.1753577A>T | CA379092472 | CTSD | c.1165T>A (p.Phe389Ile) c.1060T>A (p.Phe354Ile) c.590T>A c.*331T>A (n.*331T>A) c.1282T>A (p.Phe428Ile) c.1071+226T>A (n.1071+226T>A) c.1144T>A (p.Phe382Ile) c.72+226T>A (n.72+226T>A) c.1159T>A (p.Phe387Ile) n.763T>A n.3593T>A c.1147T>A (p.Phe383Ile) c.1156T>A (p.Phe386Ile) n.473T>A c.*1026T>A (n.*1026T>A) c.471+226T>A (n.471+226T>A) c.496T>A (p.Phe166Ile) | |
11 | g.1753578G>A | CA472140344 | CTSD | c.1164C>T (p.Val388=) c.1059C>T (p.Val353=) c.589C>T c.*330C>T (n.*330C>T) c.1281C>T (p.Val427=) c.1071+225C>T (n.1071+225C>T) c.1143C>T (p.Val381=) c.72+225C>T (n.72+225C>T) c.1158C>T (p.Val386=) n.762C>T n.3592C>T c.1146C>T (p.Val382=) c.1155C>T (p.Val385=) n.472C>T c.*1025C>T (n.*1025C>T) c.471+225C>T (n.471+225C>T) c.495C>T (p.Val165=) | ClinVar |
11 | g.1753578G>C | CA472140336 | CTSD | c.1164C>G (p.Val388=) c.1059C>G (p.Val353=) c.589C>G c.*330C>G (n.*330C>G) c.1281C>G (p.Val427=) c.1071+225C>G (n.1071+225C>G) c.1143C>G (p.Val381=) c.72+225C>G (n.72+225C>G) c.1158C>G (p.Val386=) n.762C>G n.3592C>G c.1146C>G (p.Val382=) c.1155C>G (p.Val385=) n.472C>G c.*1025C>G (n.*1025C>G) c.471+225C>G (n.471+225C>G) c.495C>G (p.Val165=) | ClinVar |
11 | g.1753578G>T | CA472140340 | CTSD | c.1164C>A (p.Val388=) c.1059C>A (p.Val353=) c.589C>A c.*330C>A (n.*330C>A) c.1281C>A (p.Val427=) c.1071+225C>A (n.1071+225C>A) c.1143C>A (p.Val381=) c.72+225C>A (n.72+225C>A) c.1158C>A (p.Val386=) n.762C>A n.3592C>A c.1146C>A (p.Val382=) c.1155C>A (p.Val385=) n.472C>A c.*1025C>A (n.*1025C>A) c.471+225C>A (n.471+225C>A) c.495C>A (p.Val165=) | gnomAD v4 |
11 | g.1753579A>C | CA379092475 | CTSD | c.1163T>G (p.Val388Gly) c.1058T>G (p.Val353Gly) c.588T>G c.*329T>G (n.*329T>G) c.1280T>G (p.Val427Gly) c.1071+224T>G (n.1071+224T>G) c.1142T>G (p.Val381Gly) c.72+224T>G (n.72+224T>G) c.1157T>G (p.Val386Gly) n.761T>G n.3591T>G c.1145T>G (p.Val382Gly) c.1154T>G (p.Val385Gly) n.471T>G c.*1024T>G (n.*1024T>G) c.471+224T>G (n.471+224T>G) c.494T>G (p.Val165Gly) | |
11 | g.1753579A>G | CA379092476 | CTSD | c.1163T>C (p.Val388Ala) c.1058T>C (p.Val353Ala) c.588T>C c.*329T>C (n.*329T>C) c.1280T>C (p.Val427Ala) c.1071+224T>C (n.1071+224T>C) c.1142T>C (p.Val381Ala) c.72+224T>C (n.72+224T>C) c.1157T>C (p.Val386Ala) n.761T>C n.3591T>C c.1145T>C (p.Val382Ala) c.1154T>C (p.Val385Ala) n.471T>C c.*1024T>C (n.*1024T>C) c.471+224T>C (n.471+224T>C) c.494T>C (p.Val165Ala) | |
11 | g.1753579A>T | CA379092477 | CTSD | c.1163T>A (p.Val388Asp) c.1058T>A (p.Val353Asp) c.588T>A c.*329T>A (n.*329T>A) c.1280T>A (p.Val427Asp) c.1071+224T>A (n.1071+224T>A) c.1142T>A (p.Val381Asp) c.72+224T>A (n.72+224T>A) c.1157T>A (p.Val386Asp) n.761T>A n.3591T>A c.1145T>A (p.Val382Asp) c.1154T>A (p.Val385Asp) n.471T>A c.*1024T>A (n.*1024T>A) c.471+224T>A (n.471+224T>A) c.494T>A (p.Val165Asp) | |
11 | g.1753580C>A | CA379092479 | CTSD | c.1162G>T (p.Val388Phe) c.1057G>T (p.Val353Phe) c.587G>T c.*328G>T (n.*328G>T) c.1279G>T (p.Val427Phe) c.1071+223G>T (n.1071+223G>T) c.1141G>T (p.Val381Phe) c.72+223G>T (n.72+223G>T) c.1156G>T (p.Val386Phe) n.760G>T n.3590G>T c.1144G>T (p.Val382Phe) c.1153G>T (p.Val385Phe) n.470G>T c.*1023G>T (n.*1023G>T) c.471+223G>T (n.471+223G>T) c.493G>T (p.Val165Phe) | |
11 | g.1753580C= | CA1947825122 | CTSD | c.1162G= (p.Val388=) c.1057G= (p.Val353=) c.587G= c.*328G= (n.*328G=) c.1279G= (p.Val427=) c.1071+223G= (n.1071+223G=) c.1141G= (p.Val381=) c.72+223G= (n.72+223G=) c.1156G= (p.Val386=) n.760G= n.3590G= c.1144G= (p.Val382=) c.1153G= (p.Val385=) n.470G= c.*1023G= (n.*1023G=) c.471+223G= (n.471+223G=) c.493G= (p.Val165=) | |
11 | g.1753580C>G | CA5813884 | CTSD | c.1162G>C (p.Val388Leu) c.1057G>C (p.Val353Leu) c.587G>C c.*328G>C (n.*328G>C) c.1279G>C (p.Val427Leu) c.1071+223G>C (n.1071+223G>C) c.1141G>C (p.Val381Leu) c.72+223G>C (n.72+223G>C) c.1156G>C (p.Val386Leu) n.760G>C n.3590G>C c.1144G>C (p.Val382Leu) c.1153G>C (p.Val385Leu) n.470G>C c.*1023G>C (n.*1023G>C) c.471+223G>C (n.471+223G>C) c.493G>C (p.Val165Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753580C>T | CA5813883 | CTSD | c.1162G>A (p.Val388Ile) c.1057G>A (p.Val353Ile) c.587G>A c.*328G>A (n.*328G>A) c.1279G>A (p.Val427Ile) c.1071+223G>A (n.1071+223G>A) c.1141G>A (p.Val381Ile) c.72+223G>A (n.72+223G>A) c.1156G>A (p.Val386Ile) n.760G>A n.3590G>A c.1144G>A (p.Val382Ile) c.1153G>A (p.Val385Ile) n.470G>A c.*1023G>A (n.*1023G>A) c.471+223G>A (n.471+223G>A) c.493G>A (p.Val165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753581G>A | CA216168638 | CTSD | c.1161C>T (p.Asp387=) c.1056C>T (p.Asp352=) c.586C>T c.*327C>T (n.*327C>T) c.1278C>T (p.Asp426=) c.1071+222C>T (n.1071+222C>T) c.1140C>T (p.Asp380=) c.72+222C>T (n.72+222C>T) c.1155C>T (p.Asp385=) n.759C>T n.3589C>T c.1143C>T (p.Asp381=) c.1152C>T (p.Asp384=) n.469C>T c.*1022C>T (n.*1022C>T) c.471+222C>T (n.471+222C>T) c.492C>T (p.Asp164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753581G>C | CA379092482 | CTSD | c.1161C>G (p.Asp387Glu) c.1056C>G (p.Asp352Glu) c.586C>G c.*327C>G (n.*327C>G) c.1278C>G (p.Asp426Glu) c.1071+222C>G (n.1071+222C>G) c.1140C>G (p.Asp380Glu) c.72+222C>G (n.72+222C>G) c.1155C>G (p.Asp385Glu) n.759C>G n.3589C>G c.1143C>G (p.Asp381Glu) c.1152C>G (p.Asp384Glu) n.469C>G c.*1022C>G (n.*1022C>G) c.471+222C>G (n.471+222C>G) c.492C>G (p.Asp164Glu) | |
11 | g.1753581G= | CA1947825123 | CTSD | c.1161C= (p.Asp387=) c.1056C= (p.Asp352=) c.586C= c.*327C= (n.*327C=) c.1278C= (p.Asp426=) c.1071+222C= (n.1071+222C=) c.1140C= (p.Asp380=) c.72+222C= (n.72+222C=) c.1155C= (p.Asp385=) n.759C= n.3589C= c.1143C= (p.Asp381=) c.1152C= (p.Asp384=) n.469C= c.*1022C= (n.*1022C=) c.471+222C= (n.471+222C=) c.492C= (p.Asp164=) | |
11 | g.1753581G>T | CA379092484 | CTSD | c.1161C>A (p.Asp387Glu) c.1056C>A (p.Asp352Glu) c.586C>A c.*327C>A (n.*327C>A) c.1278C>A (p.Asp426Glu) c.1071+222C>A (n.1071+222C>A) c.1140C>A (p.Asp380Glu) c.72+222C>A (n.72+222C>A) c.1155C>A (p.Asp385Glu) n.759C>A n.3589C>A c.1143C>A (p.Asp381Glu) c.1152C>A (p.Asp384Glu) n.469C>A c.*1022C>A (n.*1022C>A) c.471+222C>A (n.471+222C>A) c.492C>A (p.Asp164Glu) | |
11 | g.1753582T>A | CA379092486 | CTSD | c.1160A>T (p.Asp387Val) c.1055A>T (p.Asp352Val) c.585A>T c.*326A>T (n.*326A>T) c.1277A>T (p.Asp426Val) c.1071+221A>T (n.1071+221A>T) c.1139A>T (p.Asp380Val) c.72+221A>T (n.72+221A>T) c.1154A>T (p.Asp385Val) n.758A>T n.3588A>T c.1142A>T (p.Asp381Val) c.1151A>T (p.Asp384Val) n.468A>T c.*1021A>T (n.*1021A>T) c.471+221A>T (n.471+221A>T) c.491A>T (p.Asp164Val) | |
11 | g.1753582T>C | CA379092488 | CTSD | c.1160A>G (p.Asp387Gly) c.1055A>G (p.Asp352Gly) c.585A>G c.*326A>G (n.*326A>G) c.1277A>G (p.Asp426Gly) c.1071+221A>G (n.1071+221A>G) c.1139A>G (p.Asp380Gly) c.72+221A>G (n.72+221A>G) c.1154A>G (p.Asp385Gly) n.758A>G n.3588A>G c.1142A>G (p.Asp381Gly) c.1151A>G (p.Asp384Gly) n.468A>G c.*1021A>G (n.*1021A>G) c.471+221A>G (n.471+221A>G) c.491A>G (p.Asp164Gly) | |
11 | g.1753582T>G | CA379092490 | CTSD | c.1160A>C (p.Asp387Ala) c.1055A>C (p.Asp352Ala) c.585A>C c.*326A>C (n.*326A>C) c.1277A>C (p.Asp426Ala) c.1071+221A>C (n.1071+221A>C) c.1139A>C (p.Asp380Ala) c.72+221A>C (n.72+221A>C) c.1154A>C (p.Asp385Ala) n.758A>C n.3588A>C c.1142A>C (p.Asp381Ala) c.1151A>C (p.Asp384Ala) n.468A>C c.*1021A>C (n.*1021A>C) c.471+221A>C (n.471+221A>C) c.491A>C (p.Asp164Ala) | |
11 | g.1753583C>A | CA5813886 | CTSD | c.1159G>T (p.Asp387Tyr) c.1054G>T (p.Asp352Tyr) c.584G>T c.*325G>T (n.*325G>T) c.1276G>T (p.Asp426Tyr) c.1071+220G>T (n.1071+220G>T) c.1138G>T (p.Asp380Tyr) c.72+220G>T (n.72+220G>T) c.1153G>T (p.Asp385Tyr) n.757G>T n.3587G>T c.1141G>T (p.Asp381Tyr) c.1150G>T (p.Asp384Tyr) n.467G>T c.*1020G>T (n.*1020G>T) c.471+220G>T (n.471+220G>T) c.490G>T (p.Asp164Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753583C= | CA1947825124 | CTSD | c.1159G= (p.Asp387=) c.1054G= (p.Asp352=) c.584G= c.*325G= (n.*325G=) c.1276G= (p.Asp426=) c.1071+220G= (n.1071+220G=) c.1138G= (p.Asp380=) c.72+220G= (n.72+220G=) c.1153G= (p.Asp385=) n.757G= n.3587G= c.1141G= (p.Asp381=) c.1150G= (p.Asp384=) n.467G= c.*1020G= (n.*1020G=) c.471+220G= (n.471+220G=) c.490G= (p.Asp164=) | |
11 | g.1753583C>G | CA379092492 | CTSD | c.1159G>C (p.Asp387His) c.1054G>C (p.Asp352His) c.584G>C c.*325G>C (n.*325G>C) c.1276G>C (p.Asp426His) c.1071+220G>C (n.1071+220G>C) c.1138G>C (p.Asp380His) c.72+220G>C (n.72+220G>C) c.1153G>C (p.Asp385His) n.757G>C n.3587G>C c.1141G>C (p.Asp381His) c.1150G>C (p.Asp384His) n.467G>C c.*1020G>C (n.*1020G>C) c.471+220G>C (n.471+220G>C) c.490G>C (p.Asp164His) | |
11 | g.1753583C>T | CA5813885 | CTSD | c.1159G>A (p.Asp387Asn) c.1054G>A (p.Asp352Asn) c.584G>A c.*325G>A (n.*325G>A) c.1276G>A (p.Asp426Asn) c.1071+220G>A (n.1071+220G>A) c.1138G>A (p.Asp380Asn) c.72+220G>A (n.72+220G>A) c.1153G>A (p.Asp385Asn) n.757G>A n.3587G>A c.1141G>A (p.Asp381Asn) c.1150G>A (p.Asp384Asn) n.467G>A c.*1020G>A (n.*1020G>A) c.471+220G>A (n.471+220G>A) c.490G>A (p.Asp164Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753584G>A | CA5813887 | CTSD | c.1158C>T (p.Gly386=) c.1053C>T (p.Gly351=) c.583C>T c.*324C>T (n.*324C>T) c.1275C>T (p.Gly425=) c.1071+219C>T (n.1071+219C>T) c.1137C>T (p.Gly379=) c.72+219C>T (n.72+219C>T) c.1152C>T (p.Gly384=) n.756C>T n.3586C>T c.1140C>T (p.Gly380=) c.1149C>T (p.Gly383=) n.466C>T c.*1019C>T (n.*1019C>T) c.471+219C>T (n.471+219C>T) c.489C>T (p.Gly163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753584G>C | CA472140377 | CTSD | c.1158C>G (p.Gly386=) c.1053C>G (p.Gly351=) c.583C>G c.*324C>G (n.*324C>G) c.1275C>G (p.Gly425=) c.1071+219C>G (n.1071+219C>G) c.1137C>G (p.Gly379=) c.72+219C>G (n.72+219C>G) c.1152C>G (p.Gly384=) n.756C>G n.3586C>G c.1140C>G (p.Gly380=) c.1149C>G (p.Gly383=) n.466C>G c.*1019C>G (n.*1019C>G) c.471+219C>G (n.471+219C>G) c.489C>G (p.Gly163=) | |
11 | g.1753584G= | CA1947825125 | CTSD | c.1158C= (p.Gly386=) c.1053C= (p.Gly351=) c.583C= c.*324C= (n.*324C=) c.1275C= (p.Gly425=) c.1071+219C= (n.1071+219C=) c.1137C= (p.Gly379=) c.72+219C= (n.72+219C=) c.1152C= (p.Gly384=) n.756C= n.3586C= c.1140C= (p.Gly380=) c.1149C= (p.Gly383=) n.466C= c.*1019C= (n.*1019C=) c.471+219C= (n.471+219C=) c.489C= (p.Gly163=) | |
11 | g.1753584G>T | CA472140379 | CTSD | c.1158C>A (p.Gly386=) c.1053C>A (p.Gly351=) c.583C>A c.*324C>A (n.*324C>A) c.1275C>A (p.Gly425=) c.1071+219C>A (n.1071+219C>A) c.1137C>A (p.Gly379=) c.72+219C>A (n.72+219C>A) c.1152C>A (p.Gly384=) n.756C>A n.3586C>A c.1140C>A (p.Gly380=) c.1149C>A (p.Gly383=) n.466C>A c.*1019C>A (n.*1019C>A) c.471+219C>A (n.471+219C>A) c.489C>A (p.Gly163=) | |
11 | g.1753585C>A | CA379092497 | CTSD | c.1157G>T (p.Gly386Val) c.1052G>T (p.Gly351Val) c.582G>T c.*323G>T (n.*323G>T) c.1274G>T (p.Gly425Val) c.1071+218G>T (n.1071+218G>T) c.1136G>T (p.Gly379Val) c.72+218G>T (n.72+218G>T) c.1151G>T (p.Gly384Val) n.755G>T n.3585G>T c.1139G>T (p.Gly380Val) c.1148G>T (p.Gly383Val) n.465G>T c.*1018G>T (n.*1018G>T) c.471+218G>T (n.471+218G>T) c.488G>T (p.Gly163Val) | |
11 | g.1753585C>G | CA379092498 | CTSD | c.1157G>C (p.Gly386Ala) c.1052G>C (p.Gly351Ala) c.582G>C c.*323G>C (n.*323G>C) c.1274G>C (p.Gly425Ala) c.1071+218G>C (n.1071+218G>C) c.1136G>C (p.Gly379Ala) c.72+218G>C (n.72+218G>C) c.1151G>C (p.Gly384Ala) n.755G>C n.3585G>C c.1139G>C (p.Gly380Ala) c.1148G>C (p.Gly383Ala) n.465G>C c.*1018G>C (n.*1018G>C) c.471+218G>C (n.471+218G>C) c.488G>C (p.Gly163Ala) | |
11 | g.1753585C>T | CA379092500 | CTSD | c.1157G>A (p.Gly386Asp) c.1052G>A (p.Gly351Asp) c.582G>A c.*323G>A (n.*323G>A) c.1274G>A (p.Gly425Asp) c.1071+218G>A (n.1071+218G>A) c.1136G>A (p.Gly379Asp) c.72+218G>A (n.72+218G>A) c.1151G>A (p.Gly384Asp) n.755G>A n.3585G>A c.1139G>A (p.Gly380Asp) c.1148G>A (p.Gly383Asp) n.465G>A c.*1018G>A (n.*1018G>A) c.471+218G>A (n.471+218G>A) c.488G>A (p.Gly163Asp) | gnomAD v4 |
11 | g.1753586C>A | CA379092502 | CTSD | c.1156G>T (p.Gly386Cys) c.1051G>T (p.Gly351Cys) c.581G>T c.*322G>T (n.*322G>T) c.1273G>T (p.Gly425Cys) c.1071+217G>T (n.1071+217G>T) c.1135G>T (p.Gly379Cys) c.72+217G>T (n.72+217G>T) c.1150G>T (p.Gly384Cys) n.754G>T n.3584G>T c.1138G>T (p.Gly380Cys) c.1147G>T (p.Gly383Cys) n.464G>T c.*1017G>T (n.*1017G>T) c.471+217G>T (n.471+217G>T) c.487G>T (p.Gly163Cys) | |
11 | g.1753586C>G | CA379092504 | CTSD | c.1156G>C (p.Gly386Arg) c.1051G>C (p.Gly351Arg) c.581G>C c.*322G>C (n.*322G>C) c.1273G>C (p.Gly425Arg) c.1071+217G>C (n.1071+217G>C) c.1135G>C (p.Gly379Arg) c.72+217G>C (n.72+217G>C) c.1150G>C (p.Gly384Arg) n.754G>C n.3584G>C c.1138G>C (p.Gly380Arg) c.1147G>C (p.Gly383Arg) n.464G>C c.*1017G>C (n.*1017G>C) c.471+217G>C (n.471+217G>C) c.487G>C (p.Gly163Arg) | |
11 | g.1753586C>T | CA379092506 | CTSD | c.1156G>A (p.Gly386Ser) c.1051G>A (p.Gly351Ser) c.581G>A c.*322G>A (n.*322G>A) c.1273G>A (p.Gly425Ser) c.1071+217G>A (n.1071+217G>A) c.1135G>A (p.Gly379Ser) c.72+217G>A (n.72+217G>A) c.1150G>A (p.Gly384Ser) n.754G>A n.3584G>A c.1138G>A (p.Gly380Ser) c.1147G>A (p.Gly383Ser) n.464G>A c.*1017G>A (n.*1017G>A) c.471+217G>A (n.471+217G>A) c.487G>A (p.Gly163Ser) | gnomAD v4 |
11 | g.1753590_1753596del | CA2790162974 | CTSD | c.1150_1156del (p.Ile384AlafsTer?) c.1045_1051del (p.Ile349AlafsTer?) c.575_581del c.*316_*322del (n.*316_*322del) c.1267_1273del (p.Ile423AlafsTer?) c.1071+211_1071+217del (n.1071+211_1071+217del) c.1129_1135del (p.Ile377AlafsTer?) c.72+211_72+217del (n.72+211_72+217del) c.1144_1150del (p.Ile382AlafsTer?) n.748_754del n.3578_3584del c.1132_1138del (p.Ile378AlafsTer?) c.1141_1147del (p.Ile381AlafsTer?) n.458_464del c.*1011_*1017del (n.*1011_*1017del) c.471+211_471+217del (n.471+211_471+217del) c.481_487del (p.Ile161AlafsTer?) | |
11 | g.1753587C>A | CA472140399 | CTSD | c.1155G>T (p.Leu385=) c.1050G>T (p.Leu350=) c.580G>T c.*321G>T (n.*321G>T) c.1272G>T (p.Leu424=) c.1071+216G>T (n.1071+216G>T) c.1134G>T (p.Leu378=) c.72+216G>T (n.72+216G>T) c.1149G>T (p.Leu383=) n.753G>T n.3583G>T c.1137G>T (p.Leu379=) c.1146G>T (p.Leu382=) n.463G>T c.*1016G>T (n.*1016G>T) c.471+216G>T (n.471+216G>T) c.486G>T (p.Leu162=) | |
11 | g.1753587C>G | CA472140403 | CTSD | c.1155G>C (p.Leu385=) c.1050G>C (p.Leu350=) c.580G>C c.*321G>C (n.*321G>C) c.1272G>C (p.Leu424=) c.1071+216G>C (n.1071+216G>C) c.1134G>C (p.Leu378=) c.72+216G>C (n.72+216G>C) c.1149G>C (p.Leu383=) n.753G>C n.3583G>C c.1137G>C (p.Leu379=) c.1146G>C (p.Leu382=) n.463G>C c.*1016G>C (n.*1016G>C) c.471+216G>C (n.471+216G>C) c.486G>C (p.Leu162=) | |
11 | g.1753587C>T | CA472140404 | CTSD | c.1155G>A (p.Leu385=) c.1050G>A (p.Leu350=) c.580G>A c.*321G>A (n.*321G>A) c.1272G>A (p.Leu424=) c.1071+216G>A (n.1071+216G>A) c.1134G>A (p.Leu378=) c.72+216G>A (n.72+216G>A) c.1149G>A (p.Leu383=) n.753G>A n.3583G>A c.1137G>A (p.Leu379=) c.1146G>A (p.Leu382=) n.463G>A c.*1016G>A (n.*1016G>A) c.471+216G>A (n.471+216G>A) c.486G>A (p.Leu162=) | gnomAD v4 |
11 | g.1753588A>C | CA379092508 | CTSD | c.1154T>G (p.Leu385Arg) c.1049T>G (p.Leu350Arg) c.579T>G c.*320T>G (n.*320T>G) c.1271T>G (p.Leu424Arg) c.1071+215T>G (n.1071+215T>G) c.1133T>G (p.Leu378Arg) c.72+215T>G (n.72+215T>G) c.1148T>G (p.Leu383Arg) n.752T>G n.3582T>G c.1136T>G (p.Leu379Arg) c.1145T>G (p.Leu382Arg) n.462T>G c.*1015T>G (n.*1015T>G) c.471+215T>G (n.471+215T>G) c.485T>G (p.Leu162Arg) | |
11 | g.1753588A>G | CA379092509 | CTSD | c.1154T>C (p.Leu385Pro) c.1049T>C (p.Leu350Pro) c.579T>C c.*320T>C (n.*320T>C) c.1271T>C (p.Leu424Pro) c.1071+215T>C (n.1071+215T>C) c.1133T>C (p.Leu378Pro) c.72+215T>C (n.72+215T>C) c.1148T>C (p.Leu383Pro) n.752T>C n.3582T>C c.1136T>C (p.Leu379Pro) c.1145T>C (p.Leu382Pro) n.462T>C c.*1015T>C (n.*1015T>C) c.471+215T>C (n.471+215T>C) c.485T>C (p.Leu162Pro) | |
11 | g.1753588A>T | CA379092511 | CTSD | c.1154T>A (p.Leu385Gln) c.1049T>A (p.Leu350Gln) c.579T>A c.*320T>A (n.*320T>A) c.1271T>A (p.Leu424Gln) c.1071+215T>A (n.1071+215T>A) c.1133T>A (p.Leu378Gln) c.72+215T>A (n.72+215T>A) c.1148T>A (p.Leu383Gln) n.752T>A n.3582T>A c.1136T>A (p.Leu379Gln) c.1145T>A (p.Leu382Gln) n.462T>A c.*1015T>A (n.*1015T>A) c.471+215T>A (n.471+215T>A) c.485T>A (p.Leu162Gln) | |
11 | g.1753589G>A | CA472140421 | CTSD | c.1153C>T (p.Leu385=) c.1048C>T (p.Leu350=) c.578C>T c.*319C>T (n.*319C>T) c.1270C>T (p.Leu424=) c.1071+214C>T (n.1071+214C>T) c.1132C>T (p.Leu378=) c.72+214C>T (n.72+214C>T) c.1147C>T (p.Leu383=) n.751C>T n.3581C>T c.1135C>T (p.Leu379=) c.1144C>T (p.Leu382=) n.461C>T c.*1014C>T (n.*1014C>T) c.471+214C>T (n.471+214C>T) c.484C>T (p.Leu162=) | |
11 | g.1753589G>C | CA379092513 | CTSD | c.1153C>G (p.Leu385Val) c.1048C>G (p.Leu350Val) c.578C>G c.*319C>G (n.*319C>G) c.1270C>G (p.Leu424Val) c.1071+214C>G (n.1071+214C>G) c.1132C>G (p.Leu378Val) c.72+214C>G (n.72+214C>G) c.1147C>G (p.Leu383Val) n.751C>G n.3581C>G c.1135C>G (p.Leu379Val) c.1144C>G (p.Leu382Val) n.461C>G c.*1014C>G (n.*1014C>G) c.471+214C>G (n.471+214C>G) c.484C>G (p.Leu162Val) | |
11 | g.1753589G>T | CA379092516 | CTSD | c.1153C>A (p.Leu385Met) c.1048C>A (p.Leu350Met) c.578C>A c.*319C>A (n.*319C>A) c.1270C>A (p.Leu424Met) c.1071+214C>A (n.1071+214C>A) c.1132C>A (p.Leu378Met) c.72+214C>A (n.72+214C>A) c.1147C>A (p.Leu383Met) n.751C>A n.3581C>A c.1135C>A (p.Leu379Met) c.1144C>A (p.Leu382Met) n.461C>A c.*1014C>A (n.*1014C>A) c.471+214C>A (n.471+214C>A) c.484C>A (p.Leu162Met) | |
11 | g.1753590G>A | CA472140424 | CTSD | c.1152C>T (p.Ile384=) c.1047C>T (p.Ile349=) c.577C>T c.*318C>T (n.*318C>T) c.1269C>T (p.Ile423=) c.1071+213C>T (n.1071+213C>T) c.1131C>T (p.Ile377=) c.72+213C>T (n.72+213C>T) c.1146C>T (p.Ile382=) n.750C>T n.3580C>T c.1134C>T (p.Ile378=) c.1143C>T (p.Ile381=) n.460C>T c.*1013C>T (n.*1013C>T) c.471+213C>T (n.471+213C>T) c.483C>T (p.Ile161=) | |
11 | g.1753590G>C | CA379092518 | CTSD | c.1152C>G (p.Ile384Met) c.1047C>G (p.Ile349Met) c.577C>G c.*318C>G (n.*318C>G) c.1269C>G (p.Ile423Met) c.1071+213C>G (n.1071+213C>G) c.1131C>G (p.Ile377Met) c.72+213C>G (n.72+213C>G) c.1146C>G (p.Ile382Met) n.750C>G n.3580C>G c.1134C>G (p.Ile378Met) c.1143C>G (p.Ile381Met) n.460C>G c.*1013C>G (n.*1013C>G) c.471+213C>G (n.471+213C>G) c.483C>G (p.Ile161Met) | |
11 | g.1753590G>T | CA472140429 | CTSD | c.1152C>A (p.Ile384=) c.1047C>A (p.Ile349=) c.577C>A c.*318C>A (n.*318C>A) c.1269C>A (p.Ile423=) c.1071+213C>A (n.1071+213C>A) c.1131C>A (p.Ile377=) c.72+213C>A (n.72+213C>A) c.1146C>A (p.Ile382=) n.750C>A n.3580C>A c.1134C>A (p.Ile378=) c.1143C>A (p.Ile381=) n.460C>A c.*1013C>A (n.*1013C>A) c.471+213C>A (n.471+213C>A) c.483C>A (p.Ile161=) | |
11 | g.1753591A>C | CA379092523 | CTSD | c.1151T>G (p.Ile384Ser) c.1046T>G (p.Ile349Ser) c.576T>G c.*317T>G (n.*317T>G) c.1268T>G (p.Ile423Ser) c.1071+212T>G (n.1071+212T>G) c.1130T>G (p.Ile377Ser) c.72+212T>G (n.72+212T>G) c.1145T>G (p.Ile382Ser) n.749T>G n.3579T>G c.1133T>G (p.Ile378Ser) c.1142T>G (p.Ile381Ser) n.459T>G c.*1012T>G (n.*1012T>G) c.471+212T>G (n.471+212T>G) c.482T>G (p.Ile161Ser) | |
11 | g.1753591A>G | CA379092521 | CTSD | c.1151T>C (p.Ile384Thr) c.1046T>C (p.Ile349Thr) c.576T>C c.*317T>C (n.*317T>C) c.1268T>C (p.Ile423Thr) c.1071+212T>C (n.1071+212T>C) c.1130T>C (p.Ile377Thr) c.72+212T>C (n.72+212T>C) c.1145T>C (p.Ile382Thr) n.749T>C n.3579T>C c.1133T>C (p.Ile378Thr) c.1142T>C (p.Ile381Thr) n.459T>C c.*1012T>C (n.*1012T>C) c.471+212T>C (n.471+212T>C) c.482T>C (p.Ile161Thr) | gnomAD v4 |
11 | g.1753591A>T | CA379092522 | CTSD | c.1151T>A (p.Ile384Asn) c.1046T>A (p.Ile349Asn) c.576T>A c.*317T>A (n.*317T>A) c.1268T>A (p.Ile423Asn) c.1071+212T>A (n.1071+212T>A) c.1130T>A (p.Ile377Asn) c.72+212T>A (n.72+212T>A) c.1145T>A (p.Ile382Asn) n.749T>A n.3579T>A c.1133T>A (p.Ile378Asn) c.1142T>A (p.Ile381Asn) n.459T>A c.*1012T>A (n.*1012T>A) c.471+212T>A (n.471+212T>A) c.482T>A (p.Ile161Asn) | |
11 | g.1753592T>A | CA379092525 | CTSD | c.1150A>T (p.Ile384Phe) c.1045A>T (p.Ile349Phe) c.575A>T c.*316A>T (n.*316A>T) c.1267A>T (p.Ile423Phe) c.1071+211A>T (n.1071+211A>T) c.1129A>T (p.Ile377Phe) c.72+211A>T (n.72+211A>T) c.1144A>T (p.Ile382Phe) n.748A>T n.3578A>T c.1132A>T (p.Ile378Phe) c.1141A>T (p.Ile381Phe) n.458A>T c.*1011A>T (n.*1011A>T) c.471+211A>T (n.471+211A>T) c.481A>T (p.Ile161Phe) | gnomAD v4 |
11 | g.1753592T>C | CA314330 | CTSD | c.1150A>G (p.Ile384Val) c.1045A>G (p.Ile349Val) c.575A>G c.*316A>G (n.*316A>G) c.1267A>G (p.Ile423Val) c.1071+211A>G (n.1071+211A>G) c.1129A>G (p.Ile377Val) c.72+211A>G (n.72+211A>G) c.1144A>G (p.Ile382Val) n.748A>G n.3578A>G c.1132A>G (p.Ile378Val) c.1141A>G (p.Ile381Val) n.458A>G c.*1011A>G (n.*1011A>G) c.471+211A>G (n.471+211A>G) c.481A>G (p.Ile161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753592T>G | CA379092526 | CTSD | c.1150A>C (p.Ile384Leu) c.1045A>C (p.Ile349Leu) c.575A>C c.*316A>C (n.*316A>C) c.1267A>C (p.Ile423Leu) c.1071+211A>C (n.1071+211A>C) c.1129A>C (p.Ile377Leu) c.72+211A>C (n.72+211A>C) c.1144A>C (p.Ile382Leu) n.748A>C n.3578A>C c.1132A>C (p.Ile378Leu) c.1141A>C (p.Ile381Leu) n.458A>C c.*1011A>C (n.*1011A>C) c.471+211A>C (n.471+211A>C) c.481A>C (p.Ile161Leu) | |
11 | g.1753592T= | CA1947825126 | CTSD | c.1150A= (p.Ile384=) c.1045A= (p.Ile349=) c.575A= c.*316A= (n.*316A=) c.1267A= (p.Ile423=) c.1071+211A= (n.1071+211A=) c.1129A= (p.Ile377=) c.72+211A= (n.72+211A=) c.1144A= (p.Ile382=) n.748A= n.3578A= c.1132A= (p.Ile378=) c.1141A= (p.Ile381=) n.458A= c.*1011A= (n.*1011A=) c.471+211A= (n.471+211A=) c.481A= (p.Ile161=) | |
11 | g.1753593C>A | CA379092527 | CTSD | c.1149G>T (p.Trp383Cys) c.1044G>T (p.Trp348Cys) c.574G>T c.*315G>T (n.*315G>T) c.1266G>T (p.Trp422Cys) c.1071+210G>T (n.1071+210G>T) c.1128G>T (p.Trp376Cys) c.72+210G>T (n.72+210G>T) c.1143G>T (p.Trp381Cys) n.747G>T n.3577G>T c.1131G>T (p.Trp377Cys) c.1140G>T (p.Trp380Cys) n.457G>T c.*1010G>T (n.*1010G>T) c.471+210G>T (n.471+210G>T) c.480G>T (p.Trp160Cys) | gnomAD v4 COSMIC |
11 | g.1753593C= | CA1947825127 | CTSD | c.1149G= (p.Trp383=) c.1044G= (p.Trp348=) c.574G= c.*315G= (n.*315G=) c.1266G= (p.Trp422=) c.1071+210G= (n.1071+210G=) c.1128G= (p.Trp376=) c.72+210G= (n.72+210G=) c.1143G= (p.Trp381=) n.747G= n.3577G= c.1131G= (p.Trp377=) c.1140G= (p.Trp380=) n.457G= c.*1010G= (n.*1010G=) c.471+210G= (n.471+210G=) c.480G= (p.Trp160=) | |
11 | g.1753593C>G | CA258042 | CTSD | c.1149G>C (p.Trp383Cys) c.1044G>C (p.Trp348Cys) c.574G>C c.*315G>C (n.*315G>C) c.1266G>C (p.Trp422Cys) c.1071+210G>C (n.1071+210G>C) c.1128G>C (p.Trp376Cys) c.72+210G>C (n.72+210G>C) c.1143G>C (p.Trp381Cys) n.747G>C n.3577G>C c.1131G>C (p.Trp377Cys) c.1140G>C (p.Trp380Cys) n.457G>C c.*1010G>C (n.*1010G>C) c.471+210G>C (n.471+210G>C) c.480G>C (p.Trp160Cys) | ClinVar dbSNP |
11 | g.1753593C>T | CA379092529 | CTSD | c.1149G>A (p.Trp383Ter) c.1044G>A (p.Trp348Ter) c.574G>A c.*315G>A (n.*315G>A) c.1266G>A (p.Trp422Ter) c.1071+210G>A (n.1071+210G>A) c.1128G>A (p.Trp376Ter) c.72+210G>A (n.72+210G>A) c.1143G>A (p.Trp381Ter) n.747G>A n.3577G>A c.1131G>A (p.Trp377Ter) c.1140G>A (p.Trp380Ter) n.457G>A c.*1010G>A (n.*1010G>A) c.471+210G>A (n.471+210G>A) c.480G>A (p.Trp160Ter) | |
11 | g.1753594C>A | CA379092531 | CTSD | c.1148G>T (p.Trp383Leu) c.1043G>T (p.Trp348Leu) c.573G>T c.*314G>T (n.*314G>T) c.1265G>T (p.Trp422Leu) c.1071+209G>T (n.1071+209G>T) c.1127G>T (p.Trp376Leu) c.72+209G>T (n.72+209G>T) c.1142G>T (p.Trp381Leu) n.746G>T n.3576G>T c.1130G>T (p.Trp377Leu) c.1139G>T (p.Trp380Leu) n.456G>T c.*1009G>T (n.*1009G>T) c.471+209G>T (n.471+209G>T) c.479G>T (p.Trp160Leu) | gnomAD v4 |
11 | g.1753594C>G | CA379092533 | CTSD | c.1148G>C (p.Trp383Ser) c.1043G>C (p.Trp348Ser) c.573G>C c.*314G>C (n.*314G>C) c.1265G>C (p.Trp422Ser) c.1071+209G>C (n.1071+209G>C) c.1127G>C (p.Trp376Ser) c.72+209G>C (n.72+209G>C) c.1142G>C (p.Trp381Ser) n.746G>C n.3576G>C c.1130G>C (p.Trp377Ser) c.1139G>C (p.Trp380Ser) n.456G>C c.*1009G>C (n.*1009G>C) c.471+209G>C (n.471+209G>C) c.479G>C (p.Trp160Ser) | |
11 | g.1753594C>T | CA379092535 | CTSD | c.1148G>A (p.Trp383Ter) c.1043G>A (p.Trp348Ter) c.573G>A c.*314G>A (n.*314G>A) c.1265G>A (p.Trp422Ter) c.1071+209G>A (n.1071+209G>A) c.1127G>A (p.Trp376Ter) c.72+209G>A (n.72+209G>A) c.1142G>A (p.Trp381Ter) n.746G>A n.3576G>A c.1130G>A (p.Trp377Ter) c.1139G>A (p.Trp380Ter) n.456G>A c.*1009G>A (n.*1009G>A) c.471+209G>A (n.471+209G>A) c.479G>A (p.Trp160Ter) | |
11 | g.1753594_1753595del | CA2573146013 | CTSD | c.1147_1148del (p.Trp383AspfsTer15) c.1042_1043del (p.Trp348AspfsTer15) c.572_573del c.*313_*314del (n.*313_*314del) c.1264_1265del (p.Trp422AspfsTer15) c.1071+208_1071+209del (n.1071+208_1071+209del) c.1126_1127del (p.Trp376AspfsTer15) c.72+208_72+209del (n.72+208_72+209del) c.1141_1142del (p.Trp381AspfsTer15) n.745_746del n.3575_3576del c.1129_1130del (p.Trp377AspfsTer15) c.1138_1139del (p.Trp380AspfsTer15) n.455_456del c.*1008_*1009del (n.*1008_*1009del) c.471+208_471+209del (n.471+208_471+209del) c.478_479del (p.Trp160AspfsTer15) | ClinVar dbSNP |
11 | g.1753595A>C | CA379092537 | CTSD | c.1147T>G (p.Trp383Gly) c.1042T>G (p.Trp348Gly) c.572T>G c.*313T>G (n.*313T>G) c.1264T>G (p.Trp422Gly) c.1071+208T>G (n.1071+208T>G) c.1126T>G (p.Trp376Gly) c.72+208T>G (n.72+208T>G) c.1141T>G (p.Trp381Gly) n.745T>G n.3575T>G c.1129T>G (p.Trp377Gly) c.1138T>G (p.Trp380Gly) n.455T>G c.*1008T>G (n.*1008T>G) c.471+208T>G (n.471+208T>G) c.478T>G (p.Trp160Gly) | |
11 | g.1753595A>G | CA379092539 | CTSD | c.1147T>C (p.Trp383Arg) c.1042T>C (p.Trp348Arg) c.572T>C c.*313T>C (n.*313T>C) c.1264T>C (p.Trp422Arg) c.1071+208T>C (n.1071+208T>C) c.1126T>C (p.Trp376Arg) c.72+208T>C (n.72+208T>C) c.1141T>C (p.Trp381Arg) n.745T>C n.3575T>C c.1129T>C (p.Trp377Arg) c.1138T>C (p.Trp380Arg) n.455T>C c.*1008T>C (n.*1008T>C) c.471+208T>C (n.471+208T>C) c.478T>C (p.Trp160Arg) | |
11 | g.1753595A>T | CA379092540 | CTSD | c.1147T>A (p.Trp383Arg) c.1042T>A (p.Trp348Arg) c.572T>A c.*313T>A (n.*313T>A) c.1264T>A (p.Trp422Arg) c.1071+208T>A (n.1071+208T>A) c.1126T>A (p.Trp376Arg) c.72+208T>A (n.72+208T>A) c.1141T>A (p.Trp381Arg) n.745T>A n.3575T>A c.1129T>A (p.Trp377Arg) c.1138T>A (p.Trp380Arg) n.455T>A c.*1008T>A (n.*1008T>A) c.471+208T>A (n.471+208T>A) c.478T>A (p.Trp160Arg) | |
11 | g.1753597_1753598del | CA2580616896 | CTSD | c.1146_1147del (p.Trp383AspfsTer15) c.1041_1042del (p.Trp348AspfsTer15) c.571_572del c.*312_*313del (n.*312_*313del) c.1263_1264del (p.Trp422AspfsTer15) c.1071+207_1071+208del (n.1071+207_1071+208del) c.1125_1126del (p.Trp376AspfsTer15) c.72+207_72+208del (n.72+207_72+208del) c.1140_1141del (p.Trp381AspfsTer15) n.744_745del n.3574_3575del c.1128_1129del (p.Trp377AspfsTer15) c.1137_1138del (p.Trp380AspfsTer15) n.454_455del c.*1007_*1008del (n.*1007_*1008del) c.471+207_471+208del (n.471+207_471+208del) c.477_478del (p.Trp160AspfsTer15) | ClinVar dbSNP |
11 | g.1753596G>A | CA472140461 | CTSD | c.1146C>T (p.Leu382=) c.1041C>T (p.Leu347=) c.571C>T c.*312C>T (n.*312C>T) c.1263C>T (p.Leu421=) c.1071+207C>T (n.1071+207C>T) c.1125C>T (p.Leu375=) c.72+207C>T (n.72+207C>T) c.1140C>T (p.Leu380=) n.744C>T n.3574C>T c.1128C>T (p.Leu376=) c.1137C>T (p.Leu379=) n.454C>T c.*1007C>T (n.*1007C>T) c.471+207C>T (n.471+207C>T) c.477C>T (p.Leu159=) | |
11 | g.1753596G>C | CA216168676 | CTSD | c.1146C>G (p.Leu382=) c.1041C>G (p.Leu347=) c.571C>G c.*312C>G (n.*312C>G) c.1263C>G (p.Leu421=) c.1071+207C>G (n.1071+207C>G) c.1125C>G (p.Leu375=) c.72+207C>G (n.72+207C>G) c.1140C>G (p.Leu380=) n.744C>G n.3574C>G c.1128C>G (p.Leu376=) c.1137C>G (p.Leu379=) n.454C>G c.*1007C>G (n.*1007C>G) c.471+207C>G (n.471+207C>G) c.477C>G (p.Leu159=) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.1753596G= | CA1947825128 | CTSD | c.1146C= (p.Leu382=) c.1041C= (p.Leu347=) c.571C= c.*312C= (n.*312C=) c.1263C= (p.Leu421=) c.1071+207C= (n.1071+207C=) c.1125C= (p.Leu375=) c.72+207C= (n.72+207C=) c.1140C= (p.Leu380=) n.744C= n.3574C= c.1128C= (p.Leu376=) c.1137C= (p.Leu379=) n.454C= c.*1007C= (n.*1007C=) c.471+207C= (n.471+207C=) c.477C= (p.Leu159=) | |
11 | g.1753596G>T | CA472140458 | CTSD | c.1146C>A (p.Leu382=) c.1041C>A (p.Leu347=) c.571C>A c.*312C>A (n.*312C>A) c.1263C>A (p.Leu421=) c.1071+207C>A (n.1071+207C>A) c.1125C>A (p.Leu375=) c.72+207C>A (n.72+207C>A) c.1140C>A (p.Leu380=) n.744C>A n.3574C>A c.1128C>A (p.Leu376=) c.1137C>A (p.Leu379=) n.454C>A c.*1007C>A (n.*1007C>A) c.471+207C>A (n.471+207C>A) c.477C>A (p.Leu159=) | |
11 | g.1753597A>C | CA379092541 | CTSD | c.1145T>G (p.Leu382Arg) c.1040T>G (p.Leu347Arg) c.570T>G c.*311T>G (n.*311T>G) c.1262T>G (p.Leu421Arg) c.1071+206T>G (n.1071+206T>G) c.1124T>G (p.Leu375Arg) c.72+206T>G (n.72+206T>G) c.1139T>G (p.Leu380Arg) n.743T>G n.3573T>G c.1127T>G (p.Leu376Arg) c.1136T>G (p.Leu379Arg) n.453T>G c.*1006T>G (n.*1006T>G) c.471+206T>G (n.471+206T>G) c.476T>G (p.Leu159Arg) | |
11 | g.1753597A>G | CA379092543 | CTSD | c.1145T>C (p.Leu382Pro) c.1040T>C (p.Leu347Pro) c.570T>C c.*311T>C (n.*311T>C) c.1262T>C (p.Leu421Pro) c.1071+206T>C (n.1071+206T>C) c.1124T>C (p.Leu375Pro) c.72+206T>C (n.72+206T>C) c.1139T>C (p.Leu380Pro) n.743T>C n.3573T>C c.1127T>C (p.Leu376Pro) c.1136T>C (p.Leu379Pro) n.453T>C c.*1006T>C (n.*1006T>C) c.471+206T>C (n.471+206T>C) c.476T>C (p.Leu159Pro) | |
11 | g.1753597A>T | CA379092542 | CTSD | c.1145T>A (p.Leu382His) c.1040T>A (p.Leu347His) c.570T>A c.*311T>A (n.*311T>A) c.1262T>A (p.Leu421His) c.1071+206T>A (n.1071+206T>A) c.1124T>A (p.Leu375His) c.72+206T>A (n.72+206T>A) c.1139T>A (p.Leu380His) n.743T>A n.3573T>A c.1127T>A (p.Leu376His) c.1136T>A (p.Leu379His) n.453T>A c.*1006T>A (n.*1006T>A) c.471+206T>A (n.471+206T>A) c.476T>A (p.Leu159His) | |
11 | g.1753598G>A | CA379092544 | CTSD | c.1144C>T (p.Leu382Phe) c.1039C>T (p.Leu347Phe) c.569C>T c.*310C>T (n.*310C>T) c.1261C>T (p.Leu421Phe) c.1071+205C>T (n.1071+205C>T) c.1123C>T (p.Leu375Phe) c.72+205C>T (n.72+205C>T) c.1138C>T (p.Leu380Phe) n.742C>T n.3572C>T c.1126C>T (p.Leu376Phe) c.1135C>T (p.Leu379Phe) n.452C>T c.*1005C>T (n.*1005C>T) c.471+205C>T (n.471+205C>T) c.475C>T (p.Leu159Phe) | |
11 | g.1753598G>C | CA379092546 | CTSD | c.1144C>G (p.Leu382Val) c.1039C>G (p.Leu347Val) c.569C>G c.*310C>G (n.*310C>G) c.1261C>G (p.Leu421Val) c.1071+205C>G (n.1071+205C>G) c.1123C>G (p.Leu375Val) c.72+205C>G (n.72+205C>G) c.1138C>G (p.Leu380Val) n.742C>G n.3572C>G c.1126C>G (p.Leu376Val) c.1135C>G (p.Leu379Val) n.452C>G c.*1005C>G (n.*1005C>G) c.471+205C>G (n.471+205C>G) c.475C>G (p.Leu159Val) | |
11 | g.1753598G>T | CA379092545 | CTSD | c.1144C>A (p.Leu382Ile) c.1039C>A (p.Leu347Ile) c.569C>A c.*310C>A (n.*310C>A) c.1261C>A (p.Leu421Ile) c.1071+205C>A (n.1071+205C>A) c.1123C>A (p.Leu375Ile) c.72+205C>A (n.72+205C>A) c.1138C>A (p.Leu380Ile) n.742C>A n.3572C>A c.1126C>A (p.Leu376Ile) c.1135C>A (p.Leu379Ile) n.452C>A c.*1005C>A (n.*1005C>A) c.471+205C>A (n.471+205C>A) c.475C>A (p.Leu159Ile) | |
11 | g.1753599T>A | CA472140478 | CTSD | c.1143A>T (p.Pro381=) c.1038A>T (p.Pro346=) c.568A>T c.*309A>T (n.*309A>T) c.1260A>T (p.Pro420=) c.1071+204A>T (n.1071+204A>T) c.1122A>T (p.Pro374=) c.72+204A>T (n.72+204A>T) c.1137A>T (p.Pro379=) n.741A>T n.3571A>T c.1125A>T (p.Pro375=) c.1134A>T (p.Pro378=) n.451A>T c.*1004A>T (n.*1004A>T) c.471+204A>T (n.471+204A>T) c.474A>T (p.Pro158=) | |
11 | g.1753599T>C | CA472140481 | CTSD | c.1143A>G (p.Pro381=) c.1038A>G (p.Pro346=) c.568A>G c.*309A>G (n.*309A>G) c.1260A>G (p.Pro420=) c.1071+204A>G (n.1071+204A>G) c.1122A>G (p.Pro374=) c.72+204A>G (n.72+204A>G) c.1137A>G (p.Pro379=) n.741A>G n.3571A>G c.1125A>G (p.Pro375=) c.1134A>G (p.Pro378=) n.451A>G c.*1004A>G (n.*1004A>G) c.471+204A>G (n.471+204A>G) c.474A>G (p.Pro158=) | dbSNP gnomAD v4 |
11 | g.1753599T>G | CA472140485 | CTSD | c.1143A>C (p.Pro381=) c.1038A>C (p.Pro346=) c.568A>C c.*309A>C (n.*309A>C) c.1260A>C (p.Pro420=) c.1071+204A>C (n.1071+204A>C) c.1122A>C (p.Pro374=) c.72+204A>C (n.72+204A>C) c.1137A>C (p.Pro379=) n.741A>C n.3571A>C c.1125A>C (p.Pro375=) c.1134A>C (p.Pro378=) n.451A>C c.*1004A>C (n.*1004A>C) c.471+204A>C (n.471+204A>C) c.474A>C (p.Pro158=) | |
11 | g.1753599T= | CA1947825129 | CTSD | c.1143A= (p.Pro381=) c.1038A= (p.Pro346=) c.568A= c.*309A= (n.*309A=) c.1260A= (p.Pro420=) c.1071+204A= (n.1071+204A=) c.1122A= (p.Pro374=) c.72+204A= (n.72+204A=) c.1137A= (p.Pro379=) n.741A= n.3571A= c.1125A= (p.Pro375=) c.1134A= (p.Pro378=) n.451A= c.*1004A= (n.*1004A=) c.471+204A= (n.471+204A=) c.474A= (p.Pro158=) | |
11 | g.1753600G>A | CA379092548 | CTSD | c.1142C>T (p.Pro381Leu) c.1037C>T (p.Pro346Leu) c.567C>T c.*308C>T (n.*308C>T) c.1259C>T (p.Pro420Leu) c.1071+203C>T (n.1071+203C>T) c.1121C>T (p.Pro374Leu) c.72+203C>T (n.72+203C>T) c.1136C>T (p.Pro379Leu) n.740C>T n.3570C>T c.1124C>T (p.Pro375Leu) c.1133C>T (p.Pro378Leu) n.450C>T c.*1003C>T (n.*1003C>T) c.471+203C>T (n.471+203C>T) c.473C>T (p.Pro158Leu) | |
11 | g.1753600G>C | CA379092550 | CTSD | c.1142C>G (p.Pro381Arg) c.1037C>G (p.Pro346Arg) c.567C>G c.*308C>G (n.*308C>G) c.1259C>G (p.Pro420Arg) c.1071+203C>G (n.1071+203C>G) c.1121C>G (p.Pro374Arg) c.72+203C>G (n.72+203C>G) c.1136C>G (p.Pro379Arg) n.740C>G n.3570C>G c.1124C>G (p.Pro375Arg) c.1133C>G (p.Pro378Arg) n.450C>G c.*1003C>G (n.*1003C>G) c.471+203C>G (n.471+203C>G) c.473C>G (p.Pro158Arg) | |
11 | g.1753600G>T | CA379092551 | CTSD | c.1142C>A (p.Pro381Gln) c.1037C>A (p.Pro346Gln) c.567C>A c.*308C>A (n.*308C>A) c.1259C>A (p.Pro420Gln) c.1071+203C>A (n.1071+203C>A) c.1121C>A (p.Pro374Gln) c.72+203C>A (n.72+203C>A) c.1136C>A (p.Pro379Gln) n.740C>A n.3570C>A c.1124C>A (p.Pro375Gln) c.1133C>A (p.Pro378Gln) n.450C>A c.*1003C>A (n.*1003C>A) c.471+203C>A (n.471+203C>A) c.473C>A (p.Pro158Gln) | |
11 | g.1753601del | CA2574736128 | CTSD | c.1142del (p.Pro381HisfsTer?) c.1037del (p.Pro346HisfsTer?) c.567del c.*308del (n.*308del) c.1259del (p.Pro420HisfsTer?) c.1071+203del (n.1071+203del) c.1121del (p.Pro374HisfsTer?) c.72+203del (n.72+203del) c.1136del (p.Pro379HisfsTer?) n.740del n.3570del c.1124del (p.Pro375HisfsTer?) c.1133del (p.Pro378HisfsTer?) n.450del c.*1003del (n.*1003del) c.471+203del (n.471+203del) c.473del (p.Pro158HisfsTer?) | ClinVar |
11 | g.1753601G>A | CA379092556 | CTSD | c.1141C>T (p.Pro381Ser) c.1036C>T (p.Pro346Ser) c.566C>T c.*307C>T (n.*307C>T) c.1258C>T (p.Pro420Ser) c.1071+202C>T (n.1071+202C>T) c.1120C>T (p.Pro374Ser) c.72+202C>T (n.72+202C>T) c.1135C>T (p.Pro379Ser) n.739C>T n.3569C>T c.1123C>T (p.Pro375Ser) c.1132C>T (p.Pro378Ser) n.449C>T c.*1002C>T (n.*1002C>T) c.471+202C>T (n.471+202C>T) c.472C>T (p.Pro158Ser) | gnomAD v4 |
11 | g.1753601G>C | CA379092558 | CTSD | c.1141C>G (p.Pro381Ala) c.1036C>G (p.Pro346Ala) c.566C>G c.*307C>G (n.*307C>G) c.1258C>G (p.Pro420Ala) c.1071+202C>G (n.1071+202C>G) c.1120C>G (p.Pro374Ala) c.72+202C>G (n.72+202C>G) c.1135C>G (p.Pro379Ala) n.739C>G n.3569C>G c.1123C>G (p.Pro375Ala) c.1132C>G (p.Pro378Ala) n.449C>G c.*1002C>G (n.*1002C>G) c.471+202C>G (n.471+202C>G) c.472C>G (p.Pro158Ala) | |
11 | g.1753601G>T | CA379092559 | CTSD | c.1141C>A (p.Pro381Thr) c.1036C>A (p.Pro346Thr) c.566C>A c.*307C>A (n.*307C>A) c.1258C>A (p.Pro420Thr) c.1071+202C>A (n.1071+202C>A) c.1120C>A (p.Pro374Thr) c.72+202C>A (n.72+202C>A) c.1135C>A (p.Pro379Thr) n.739C>A n.3569C>A c.1123C>A (p.Pro375Thr) c.1132C>A (p.Pro378Thr) n.449C>A c.*1002C>A (n.*1002C>A) c.471+202C>A (n.471+202C>A) c.472C>A (p.Pro158Thr) | |
11 | g.1753602C>A | CA472140504 | CTSD | c.1140G>T (p.Gly380=) c.1035G>T (p.Gly345=) c.565G>T c.*306G>T (n.*306G>T) c.1257G>T (p.Gly419=) c.1071+201G>T (n.1071+201G>T) c.1119G>T (p.Gly373=) c.72+201G>T (n.72+201G>T) c.1134G>T (p.Gly378=) n.738G>T n.3568G>T c.1122G>T (p.Gly374=) c.1131G>T (p.Gly377=) n.448G>T c.*1001G>T (n.*1001G>T) c.471+201G>T (n.471+201G>T) c.471G>T (p.Gly157=) | gnomAD v4 |
11 | g.1753602C= | CA1947825130 | CTSD | c.1140G= (p.Gly380=) c.1035G= (p.Gly345=) c.565G= c.*306G= (n.*306G=) c.1257G= (p.Gly419=) c.1071+201G= (n.1071+201G=) c.1119G= (p.Gly373=) c.72+201G= (n.72+201G=) c.1134G= (p.Gly378=) n.738G= n.3568G= c.1122G= (p.Gly374=) c.1131G= (p.Gly377=) n.448G= c.*1001G= (n.*1001G=) c.471+201G= (n.471+201G=) c.471G= (p.Gly157=) | |
11 | g.1753602C>G | CA472140506 | CTSD | c.1140G>C (p.Gly380=) c.1035G>C (p.Gly345=) c.565G>C c.*306G>C (n.*306G>C) c.1257G>C (p.Gly419=) c.1071+201G>C (n.1071+201G>C) c.1119G>C (p.Gly373=) c.72+201G>C (n.72+201G>C) c.1134G>C (p.Gly378=) n.738G>C n.3568G>C c.1122G>C (p.Gly374=) c.1131G>C (p.Gly377=) n.448G>C c.*1001G>C (n.*1001G>C) c.471+201G>C (n.471+201G>C) c.471G>C (p.Gly157=) | |
11 | g.1753602C>T | CA5813888 | CTSD | c.1140G>A (p.Gly380=) c.1035G>A (p.Gly345=) c.565G>A c.*306G>A (n.*306G>A) c.1257G>A (p.Gly419=) c.1071+201G>A (n.1071+201G>A) c.1119G>A (p.Gly373=) c.72+201G>A (n.72+201G>A) c.1134G>A (p.Gly378=) n.738G>A n.3568G>A c.1122G>A (p.Gly374=) c.1131G>A (p.Gly377=) n.448G>A c.*1001G>A (n.*1001G>A) c.471+201G>A (n.471+201G>A) c.471G>A (p.Gly157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753603C>A | CA379092561 | CTSD | c.1139G>T (p.Gly380Val) c.1034G>T (p.Gly345Val) c.564G>T c.*305G>T (n.*305G>T) c.1256G>T (p.Gly419Val) c.1071+200G>T (n.1071+200G>T) c.1118G>T (p.Gly373Val) c.72+200G>T (n.72+200G>T) c.1133G>T (p.Gly378Val) n.737G>T n.3567G>T c.1121G>T (p.Gly374Val) c.1130G>T (p.Gly377Val) n.447G>T c.*1000G>T (n.*1000G>T) c.471+200G>T (n.471+200G>T) c.470G>T (p.Gly157Val) | COSMIC |
11 | g.1753603C= | CA1947825131 | CTSD | c.1139G= (p.Gly380=) c.1034G= (p.Gly345=) c.564G= c.*305G= (n.*305G=) c.1256G= (p.Gly419=) c.1071+200G= (n.1071+200G=) c.1118G= (p.Gly373=) c.72+200G= (n.72+200G=) c.1133G= (p.Gly378=) n.737G= n.3567G= c.1121G= (p.Gly374=) c.1130G= (p.Gly377=) n.447G= c.*1000G= (n.*1000G=) c.471+200G= (n.471+200G=) c.470G= (p.Gly157=) | |
11 | g.1753603C>G | CA379092563 | CTSD | c.1139G>C (p.Gly380Ala) c.1034G>C (p.Gly345Ala) c.564G>C c.*305G>C (n.*305G>C) c.1256G>C (p.Gly419Ala) c.1071+200G>C (n.1071+200G>C) c.1118G>C (p.Gly373Ala) c.72+200G>C (n.72+200G>C) c.1133G>C (p.Gly378Ala) n.737G>C n.3567G>C c.1121G>C (p.Gly374Ala) c.1130G>C (p.Gly377Ala) n.447G>C c.*1000G>C (n.*1000G>C) c.471+200G>C (n.471+200G>C) c.470G>C (p.Gly157Ala) | |
11 | g.1753603C>T | CA379092565 | CTSD | c.1139G>A (p.Gly380Glu) c.1034G>A (p.Gly345Glu) c.564G>A c.*305G>A (n.*305G>A) c.1256G>A (p.Gly419Glu) c.1071+200G>A (n.1071+200G>A) c.1118G>A (p.Gly373Glu) c.72+200G>A (n.72+200G>A) c.1133G>A (p.Gly378Glu) n.737G>A n.3567G>A c.1121G>A (p.Gly374Glu) c.1130G>A (p.Gly377Glu) n.447G>A c.*1000G>A (n.*1000G>A) c.471+200G>A (n.471+200G>A) c.470G>A (p.Gly157Glu) | dbSNP |
11 | g.1753604C>A | CA379092570 | CTSD | c.1138G>T (p.Gly380Trp) c.1033G>T (p.Gly345Trp) c.563G>T c.*304G>T (n.*304G>T) c.1255G>T (p.Gly419Trp) c.1071+199G>T (n.1071+199G>T) c.1117G>T (p.Gly373Trp) c.72+199G>T (n.72+199G>T) c.1132G>T (p.Gly378Trp) n.736G>T n.3566G>T c.1120G>T (p.Gly374Trp) c.1129G>T (p.Gly377Trp) n.446G>T c.*999G>T (n.*999G>T) c.471+199G>T (n.471+199G>T) c.469G>T (p.Gly157Trp) | gnomAD v4 |
11 | g.1753604C= | CA1947825132 | CTSD | c.1138G= (p.Gly380=) c.1033G= (p.Gly345=) c.563G= c.*304G= (n.*304G=) c.1255G= (p.Gly419=) c.1071+199G= (n.1071+199G=) c.1117G= (p.Gly373=) c.72+199G= (n.72+199G=) c.1132G= (p.Gly378=) n.736G= n.3566G= c.1120G= (p.Gly374=) c.1129G= (p.Gly377=) n.446G= c.*999G= (n.*999G=) c.471+199G= (n.471+199G=) c.469G= (p.Gly157=) | |
11 | g.1753604C>G | CA379092568 | CTSD | c.1138G>C (p.Gly380Arg) c.1033G>C (p.Gly345Arg) c.563G>C c.*304G>C (n.*304G>C) c.1255G>C (p.Gly419Arg) c.1071+199G>C (n.1071+199G>C) c.1117G>C (p.Gly373Arg) c.72+199G>C (n.72+199G>C) c.1132G>C (p.Gly378Arg) n.736G>C n.3566G>C c.1120G>C (p.Gly374Arg) c.1129G>C (p.Gly377Arg) n.446G>C c.*999G>C (n.*999G>C) c.471+199G>C (n.471+199G>C) c.469G>C (p.Gly157Arg) | |
11 | g.1753604C>T | CA216168695 | CTSD | c.1138G>A (p.Gly380Arg) c.1033G>A (p.Gly345Arg) c.563G>A c.*304G>A (n.*304G>A) c.1255G>A (p.Gly419Arg) c.1071+199G>A (n.1071+199G>A) c.1117G>A (p.Gly373Arg) c.72+199G>A (n.72+199G>A) c.1132G>A (p.Gly378Arg) n.736G>A n.3566G>A c.1120G>A (p.Gly374Arg) c.1129G>A (p.Gly377Arg) n.446G>A c.*999G>A (n.*999G>A) c.471+199G>A (n.471+199G>A) c.469G>A (p.Gly157Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753605G>A | CA152533 | CTSD | c.1137C>T (p.Ser379=) c.1032C>T (p.Ser344=) c.562C>T c.*303C>T (n.*303C>T) c.1254C>T (p.Ser418=) c.1071+198C>T (n.1071+198C>T) c.1116C>T (p.Ser372=) c.72+198C>T (n.72+198C>T) c.1131C>T (p.Ser377=) n.735C>T n.3565C>T c.1119C>T (p.Ser373=) c.1128C>T (p.Ser376=) n.445C>T c.*998C>T (n.*998C>T) c.471+198C>T (n.471+198C>T) c.468C>T (p.Ser156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753605G>C | CA379092571 | CTSD | c.1137C>G (p.Ser379Arg) c.1032C>G (p.Ser344Arg) c.562C>G c.*303C>G (n.*303C>G) c.1254C>G (p.Ser418Arg) c.1071+198C>G (n.1071+198C>G) c.1116C>G (p.Ser372Arg) c.72+198C>G (n.72+198C>G) c.1131C>G (p.Ser377Arg) n.735C>G n.3565C>G c.1119C>G (p.Ser373Arg) c.1128C>G (p.Ser376Arg) n.445C>G c.*998C>G (n.*998C>G) c.471+198C>G (n.471+198C>G) c.468C>G (p.Ser156Arg) | |
11 | g.1753605G= | CA1947825133 | CTSD | c.1137C= (p.Ser379=) c.1032C= (p.Ser344=) c.562C= c.*303C= (n.*303C=) c.1254C= (p.Ser418=) c.1071+198C= (n.1071+198C=) c.1116C= (p.Ser372=) c.72+198C= (n.72+198C=) c.1131C= (p.Ser377=) n.735C= n.3565C= c.1119C= (p.Ser373=) c.1128C= (p.Ser376=) n.445C= c.*998C= (n.*998C=) c.471+198C= (n.471+198C=) c.468C= (p.Ser156=) | |
11 | g.1753605G>T | CA379092572 | CTSD | c.1137C>A (p.Ser379Arg) c.1032C>A (p.Ser344Arg) c.562C>A c.*303C>A (n.*303C>A) c.1254C>A (p.Ser418Arg) c.1071+198C>A (n.1071+198C>A) c.1116C>A (p.Ser372Arg) c.72+198C>A (n.72+198C>A) c.1131C>A (p.Ser377Arg) n.735C>A n.3565C>A c.1119C>A (p.Ser373Arg) c.1128C>A (p.Ser376Arg) n.445C>A c.*998C>A (n.*998C>A) c.471+198C>A (n.471+198C>A) c.468C>A (p.Ser156Arg) | gnomAD v4 |
11 | g.1753606C>A | CA379092573 | CTSD | c.1136G>T (p.Ser379Ile) c.1031G>T (p.Ser344Ile) c.561G>T c.*302G>T (n.*302G>T) c.1253G>T (p.Ser418Ile) c.1071+197G>T (n.1071+197G>T) c.1115G>T (p.Ser372Ile) c.72+197G>T (n.72+197G>T) c.1130G>T (p.Ser377Ile) n.734G>T n.3564G>T c.1118G>T (p.Ser373Ile) c.1127G>T (p.Ser376Ile) n.444G>T c.*997G>T (n.*997G>T) c.471+197G>T (n.471+197G>T) c.467G>T (p.Ser156Ile) | |
11 | g.1753606C= | CA1947825134 | CTSD | c.1136G= (p.Ser379=) c.1031G= (p.Ser344=) c.561G= c.*302G= (n.*302G=) c.1253G= (p.Ser418=) c.1071+197G= (n.1071+197G=) c.1115G= (p.Ser372=) c.72+197G= (n.72+197G=) c.1130G= (p.Ser377=) n.734G= n.3564G= c.1118G= (p.Ser373=) c.1127G= (p.Ser376=) n.444G= c.*997G= (n.*997G=) c.471+197G= (n.471+197G=) c.467G= (p.Ser156=) | |
11 | g.1753606C>G | CA379092574 | CTSD | c.1136G>C (p.Ser379Thr) c.1031G>C (p.Ser344Thr) c.561G>C c.*302G>C (n.*302G>C) c.1253G>C (p.Ser418Thr) c.1071+197G>C (n.1071+197G>C) c.1115G>C (p.Ser372Thr) c.72+197G>C (n.72+197G>C) c.1130G>C (p.Ser377Thr) n.734G>C n.3564G>C c.1118G>C (p.Ser373Thr) c.1127G>C (p.Ser376Thr) n.444G>C c.*997G>C (n.*997G>C) c.471+197G>C (n.471+197G>C) c.467G>C (p.Ser156Thr) | |
11 | g.1753606C>T | CA379092575 | CTSD | c.1136G>A (p.Ser379Asn) c.1031G>A (p.Ser344Asn) c.561G>A c.*302G>A (n.*302G>A) c.1253G>A (p.Ser418Asn) c.1071+197G>A (n.1071+197G>A) c.1115G>A (p.Ser372Asn) c.72+197G>A (n.72+197G>A) c.1130G>A (p.Ser377Asn) n.734G>A n.3564G>A c.1118G>A (p.Ser373Asn) c.1127G>A (p.Ser376Asn) n.444G>A c.*997G>A (n.*997G>A) c.471+197G>A (n.471+197G>A) c.467G>A (p.Ser156Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753607T>A | CA379092577 | CTSD | c.1135A>T (p.Ser379Cys) c.1030A>T (p.Ser344Cys) c.560A>T c.*301A>T (n.*301A>T) c.1252A>T (p.Ser418Cys) c.1071+196A>T (n.1071+196A>T) c.1114A>T (p.Ser372Cys) c.72+196A>T (n.72+196A>T) c.1129A>T (p.Ser377Cys) n.733A>T n.3563A>T c.1117A>T (p.Ser373Cys) c.1126A>T (p.Ser376Cys) n.443A>T c.*996A>T (n.*996A>T) c.471+196A>T (n.471+196A>T) c.466A>T (p.Ser156Cys) | |
11 | g.1753607T>C | CA379092580 | CTSD | c.1135A>G (p.Ser379Gly) c.1030A>G (p.Ser344Gly) c.560A>G c.*301A>G (n.*301A>G) c.1252A>G (p.Ser418Gly) c.1071+196A>G (n.1071+196A>G) c.1114A>G (p.Ser372Gly) c.72+196A>G (n.72+196A>G) c.1129A>G (p.Ser377Gly) n.733A>G n.3563A>G c.1117A>G (p.Ser373Gly) c.1126A>G (p.Ser376Gly) n.443A>G c.*996A>G (n.*996A>G) c.471+196A>G (n.471+196A>G) c.466A>G (p.Ser156Gly) | dbSNP gnomAD v4 |
11 | g.1753607T>G | CA379092582 | CTSD | c.1135A>C (p.Ser379Arg) c.1030A>C (p.Ser344Arg) c.560A>C c.*301A>C (n.*301A>C) c.1252A>C (p.Ser418Arg) c.1071+196A>C (n.1071+196A>C) c.1114A>C (p.Ser372Arg) c.72+196A>C (n.72+196A>C) c.1129A>C (p.Ser377Arg) n.733A>C n.3563A>C c.1117A>C (p.Ser373Arg) c.1126A>C (p.Ser376Arg) n.443A>C c.*996A>C (n.*996A>C) c.471+196A>C (n.471+196A>C) c.466A>C (p.Ser156Arg) | |
11 | g.1753607T= | CA1947825135 | CTSD | c.1135A= (p.Ser379=) c.1030A= (p.Ser344=) c.560A= c.*301A= (n.*301A=) c.1252A= (p.Ser418=) c.1071+196A= (n.1071+196A=) c.1114A= (p.Ser372=) c.72+196A= (n.72+196A=) c.1129A= (p.Ser377=) n.733A= n.3563A= c.1117A= (p.Ser373=) c.1126A= (p.Ser376=) n.443A= c.*996A= (n.*996A=) c.471+196A= (n.471+196A=) c.466A= (p.Ser156=) | |
11 | g.1753608G>A | CA5813889 | CTSD | c.1134C>T (p.Pro378=) c.1029C>T (p.Pro343=) c.559C>T c.*300C>T (n.*300C>T) c.1251C>T (p.Pro417=) c.1071+195C>T (n.1071+195C>T) c.1113C>T (p.Pro371=) c.72+195C>T (n.72+195C>T) c.1128C>T (p.Pro376=) n.732C>T n.3562C>T c.1116C>T (p.Pro372=) c.1125C>T (p.Pro375=) n.442C>T c.*995C>T (n.*995C>T) c.471+195C>T (n.471+195C>T) c.465C>T (p.Pro155=) | dbSNP ExAC gnomAD v2 |
11 | g.1753608G>C | CA472140530 | CTSD | c.1134C>G (p.Pro378=) c.1029C>G (p.Pro343=) c.559C>G c.*300C>G (n.*300C>G) c.1251C>G (p.Pro417=) c.1071+195C>G (n.1071+195C>G) c.1113C>G (p.Pro371=) c.72+195C>G (n.72+195C>G) c.1128C>G (p.Pro376=) n.732C>G n.3562C>G c.1116C>G (p.Pro372=) c.1125C>G (p.Pro375=) n.442C>G c.*995C>G (n.*995C>G) c.471+195C>G (n.471+195C>G) c.465C>G (p.Pro155=) | |
11 | g.1753608G= | CA1947825136 | CTSD | c.1134C= (p.Pro378=) c.1029C= (p.Pro343=) c.559C= c.*300C= (n.*300C=) c.1251C= (p.Pro417=) c.1071+195C= (n.1071+195C=) c.1113C= (p.Pro371=) c.72+195C= (n.72+195C=) c.1128C= (p.Pro376=) n.732C= n.3562C= c.1116C= (p.Pro372=) c.1125C= (p.Pro375=) n.442C= c.*995C= (n.*995C=) c.471+195C= (n.471+195C=) c.465C= (p.Pro155=) | |
11 | g.1753608G>T | CA472140532 | CTSD | c.1134C>A (p.Pro378=) c.1029C>A (p.Pro343=) c.559C>A c.*300C>A (n.*300C>A) c.1251C>A (p.Pro417=) c.1071+195C>A (n.1071+195C>A) c.1113C>A (p.Pro371=) c.72+195C>A (n.72+195C>A) c.1128C>A (p.Pro376=) n.732C>A n.3562C>A c.1116C>A (p.Pro372=) c.1125C>A (p.Pro375=) n.442C>A c.*995C>A (n.*995C>A) c.471+195C>A (n.471+195C>A) c.465C>A (p.Pro155=) | |
11 | g.1753609G>A | CA379092588 | CTSD | c.1133C>T (p.Pro378Leu) c.1028C>T (p.Pro343Leu) c.558C>T c.*299C>T (n.*299C>T) c.1250C>T (p.Pro417Leu) c.1071+194C>T (n.1071+194C>T) c.1112C>T (p.Pro371Leu) c.72+194C>T (n.72+194C>T) c.1127C>T (p.Pro376Leu) n.731C>T n.3561C>T c.1115C>T (p.Pro372Leu) c.1124C>T (p.Pro375Leu) n.441C>T c.*994C>T (n.*994C>T) c.471+194C>T (n.471+194C>T) c.464C>T (p.Pro155Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753609G>C | CA379092589 | CTSD | c.1133C>G (p.Pro378Arg) c.1028C>G (p.Pro343Arg) c.558C>G c.*299C>G (n.*299C>G) c.1250C>G (p.Pro417Arg) c.1071+194C>G (n.1071+194C>G) c.1112C>G (p.Pro371Arg) c.72+194C>G (n.72+194C>G) c.1127C>G (p.Pro376Arg) n.731C>G n.3561C>G c.1115C>G (p.Pro372Arg) c.1124C>G (p.Pro375Arg) n.441C>G c.*994C>G (n.*994C>G) c.471+194C>G (n.471+194C>G) c.464C>G (p.Pro155Arg) | gnomAD v4 |
11 | g.1753609G= | CA1947825137 | CTSD | c.1133C= (p.Pro378=) c.1028C= (p.Pro343=) c.558C= c.*299C= (n.*299C=) c.1250C= (p.Pro417=) c.1071+194C= (n.1071+194C=) c.1112C= (p.Pro371=) c.72+194C= (n.72+194C=) c.1127C= (p.Pro376=) n.731C= n.3561C= c.1115C= (p.Pro372=) c.1124C= (p.Pro375=) n.441C= c.*994C= (n.*994C=) c.471+194C= (n.471+194C=) c.464C= (p.Pro155=) | |
11 | g.1753609G>T | CA379092586 | CTSD | c.1133C>A (p.Pro378His) c.1028C>A (p.Pro343His) c.558C>A c.*299C>A (n.*299C>A) c.1250C>A (p.Pro417His) c.1071+194C>A (n.1071+194C>A) c.1112C>A (p.Pro371His) c.72+194C>A (n.72+194C>A) c.1127C>A (p.Pro376His) n.731C>A n.3561C>A c.1115C>A (p.Pro372His) c.1124C>A (p.Pro375His) n.441C>A c.*994C>A (n.*994C>A) c.471+194C>A (n.471+194C>A) c.464C>A (p.Pro155His) | |
11 | g.1753610G>A | CA379092592 | CTSD | c.1132C>T (p.Pro378Ser) c.1027C>T (p.Pro343Ser) c.557C>T c.*298C>T (n.*298C>T) c.1249C>T (p.Pro417Ser) c.1071+193C>T (n.1071+193C>T) c.1111C>T (p.Pro371Ser) c.72+193C>T (n.72+193C>T) c.1126C>T (p.Pro376Ser) n.730C>T n.3560C>T c.1114C>T (p.Pro372Ser) c.1123C>T (p.Pro375Ser) n.440C>T c.*993C>T (n.*993C>T) c.471+193C>T (n.471+193C>T) c.463C>T (p.Pro155Ser) | |
11 | g.1753610G>C | CA379092594 | CTSD | c.1132C>G (p.Pro378Ala) c.1027C>G (p.Pro343Ala) c.557C>G c.*298C>G (n.*298C>G) c.1249C>G (p.Pro417Ala) c.1071+193C>G (n.1071+193C>G) c.1111C>G (p.Pro371Ala) c.72+193C>G (n.72+193C>G) c.1126C>G (p.Pro376Ala) n.730C>G n.3560C>G c.1114C>G (p.Pro372Ala) c.1123C>G (p.Pro375Ala) n.440C>G c.*993C>G (n.*993C>G) c.471+193C>G (n.471+193C>G) c.463C>G (p.Pro155Ala) | |
11 | g.1753610G>T | CA379092595 | CTSD | c.1132C>A (p.Pro378Thr) c.1027C>A (p.Pro343Thr) c.557C>A c.*298C>A (n.*298C>A) c.1249C>A (p.Pro417Thr) c.1071+193C>A (n.1071+193C>A) c.1111C>A (p.Pro371Thr) c.72+193C>A (n.72+193C>A) c.1126C>A (p.Pro376Thr) n.730C>A n.3560C>A c.1114C>A (p.Pro372Thr) c.1123C>A (p.Pro375Thr) n.440C>A c.*993C>A (n.*993C>A) c.471+193C>A (n.471+193C>A) c.463C>A (p.Pro155Thr) | gnomAD v4 |
11 | g.1753611T>A | CA472140548 | CTSD | c.1131A>T (p.Pro377=) c.1026A>T (p.Pro342=) c.556A>T c.*297A>T (n.*297A>T) c.1248A>T (p.Pro416=) c.1071+192A>T (n.1071+192A>T) c.1110A>T (p.Pro370=) c.72+192A>T (n.72+192A>T) c.1125A>T (p.Pro375=) n.729A>T n.3559A>T c.1113A>T (p.Pro371=) c.1122A>T (p.Pro374=) n.439A>T c.*992A>T (n.*992A>T) c.471+192A>T (n.471+192A>T) c.462A>T (p.Pro154=) | dbSNP |
11 | g.1753611T>C | CA472140551 | CTSD | c.1131A>G (p.Pro377=) c.1026A>G (p.Pro342=) c.556A>G c.*297A>G (n.*297A>G) c.1248A>G (p.Pro416=) c.1071+192A>G (n.1071+192A>G) c.1110A>G (p.Pro370=) c.72+192A>G (n.72+192A>G) c.1125A>G (p.Pro375=) n.729A>G n.3559A>G c.1113A>G (p.Pro371=) c.1122A>G (p.Pro374=) n.439A>G c.*992A>G (n.*992A>G) c.471+192A>G (n.471+192A>G) c.462A>G (p.Pro154=) | |
11 | g.1753611T>G | CA472140555 | CTSD | c.1131A>C (p.Pro377=) c.1026A>C (p.Pro342=) c.556A>C c.*297A>C (n.*297A>C) c.1248A>C (p.Pro416=) c.1071+192A>C (n.1071+192A>C) c.1110A>C (p.Pro370=) c.72+192A>C (n.72+192A>C) c.1125A>C (p.Pro375=) n.729A>C n.3559A>C c.1113A>C (p.Pro371=) c.1122A>C (p.Pro374=) n.439A>C c.*992A>C (n.*992A>C) c.471+192A>C (n.471+192A>C) c.462A>C (p.Pro154=) | |
11 | g.1753611T= | CA1947825138 | CTSD | c.1131A= (p.Pro377=) c.1026A= (p.Pro342=) c.556A= c.*297A= (n.*297A=) c.1248A= (p.Pro416=) c.1071+192A= (n.1071+192A=) c.1110A= (p.Pro370=) c.72+192A= (n.72+192A=) c.1125A= (p.Pro375=) n.729A= n.3559A= c.1113A= (p.Pro371=) c.1122A= (p.Pro374=) n.439A= c.*992A= (n.*992A=) c.471+192A= (n.471+192A=) c.462A= (p.Pro154=) | |
11 | g.1753612G>A | CA379092598 | CTSD | c.1130C>T (p.Pro377Leu) c.1025C>T (p.Pro342Leu) c.555C>T c.*296C>T (n.*296C>T) c.1247C>T (p.Pro416Leu) c.1071+191C>T (n.1071+191C>T) c.1109C>T (p.Pro370Leu) c.72+191C>T (n.72+191C>T) c.1124C>T (p.Pro375Leu) n.728C>T n.3558C>T c.1112C>T (p.Pro371Leu) c.1121C>T (p.Pro374Leu) n.438C>T c.*991C>T (n.*991C>T) c.471+191C>T (n.471+191C>T) c.461C>T (p.Pro154Leu) | gnomAD v4 |
11 | g.1753612G>C | CA379092600 | CTSD | c.1130C>G (p.Pro377Arg) c.1025C>G (p.Pro342Arg) c.555C>G c.*296C>G (n.*296C>G) c.1247C>G (p.Pro416Arg) c.1071+191C>G (n.1071+191C>G) c.1109C>G (p.Pro370Arg) c.72+191C>G (n.72+191C>G) c.1124C>G (p.Pro375Arg) n.728C>G n.3558C>G c.1112C>G (p.Pro371Arg) c.1121C>G (p.Pro374Arg) n.438C>G c.*991C>G (n.*991C>G) c.471+191C>G (n.471+191C>G) c.461C>G (p.Pro154Arg) | |
11 | g.1753612G>T | CA379092601 | CTSD | c.1130C>A (p.Pro377Gln) c.1025C>A (p.Pro342Gln) c.555C>A c.*296C>A (n.*296C>A) c.1247C>A (p.Pro416Gln) c.1071+191C>A (n.1071+191C>A) c.1109C>A (p.Pro370Gln) c.72+191C>A (n.72+191C>A) c.1124C>A (p.Pro375Gln) n.728C>A n.3558C>A c.1112C>A (p.Pro371Gln) c.1121C>A (p.Pro374Gln) n.438C>A c.*991C>A (n.*991C>A) c.471+191C>A (n.471+191C>A) c.461C>A (p.Pro154Gln) | |
11 | g.1753613G>A | CA379092602 | CTSD | c.1129C>T (p.Pro377Ser) c.1024C>T (p.Pro342Ser) c.554C>T c.*295C>T (n.*295C>T) c.1246C>T (p.Pro416Ser) c.1071+190C>T (n.1071+190C>T) c.1108C>T (p.Pro370Ser) c.72+190C>T (n.72+190C>T) c.1123C>T (p.Pro375Ser) n.727C>T n.3557C>T c.1111C>T (p.Pro371Ser) c.1120C>T (p.Pro374Ser) n.437C>T c.*990C>T (n.*990C>T) c.471+190C>T (n.471+190C>T) c.460C>T (p.Pro154Ser) | |
11 | g.1753613G>C | CA379092604 | CTSD | c.1129C>G (p.Pro377Ala) c.1024C>G (p.Pro342Ala) c.554C>G c.*295C>G (n.*295C>G) c.1246C>G (p.Pro416Ala) c.1071+190C>G (n.1071+190C>G) c.1108C>G (p.Pro370Ala) c.72+190C>G (n.72+190C>G) c.1123C>G (p.Pro375Ala) n.727C>G n.3557C>G c.1111C>G (p.Pro371Ala) c.1120C>G (p.Pro374Ala) n.437C>G c.*990C>G (n.*990C>G) c.471+190C>G (n.471+190C>G) c.460C>G (p.Pro154Ala) | |
11 | g.1753613G= | CA1947825139 | CTSD | c.1129C= (p.Pro377=) c.1024C= (p.Pro342=) c.554C= c.*295C= (n.*295C=) c.1246C= (p.Pro416=) c.1071+190C= (n.1071+190C=) c.1108C= (p.Pro370=) c.72+190C= (n.72+190C=) c.1123C= (p.Pro375=) n.727C= n.3557C= c.1111C= (p.Pro371=) c.1120C= (p.Pro374=) n.437C= c.*990C= (n.*990C=) c.471+190C= (n.471+190C=) c.460C= (p.Pro154=) | |
11 | g.1753613G>T | CA379092606 | CTSD | c.1129C>A (p.Pro377Thr) c.1024C>A (p.Pro342Thr) c.554C>A c.*295C>A (n.*295C>A) c.1246C>A (p.Pro416Thr) c.1071+190C>A (n.1071+190C>A) c.1108C>A (p.Pro370Thr) c.72+190C>A (n.72+190C>A) c.1123C>A (p.Pro375Thr) n.727C>A n.3557C>A c.1111C>A (p.Pro371Thr) c.1120C>A (p.Pro374Thr) n.437C>A c.*990C>A (n.*990C>A) c.471+190C>A (n.471+190C>A) c.460C>A (p.Pro154Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.1753614C>A | CA472140568 | CTSD | c.1128G>T (p.Pro376=) c.1023G>T (p.Pro341=) c.553G>T c.*294G>T (n.*294G>T) c.1245G>T (p.Pro415=) c.1071+189G>T (n.1071+189G>T) c.1107G>T (p.Pro369=) c.72+189G>T (n.72+189G>T) c.1122G>T (p.Pro374=) n.726G>T n.3556G>T c.1110G>T (p.Pro370=) c.1119G>T (p.Pro373=) n.436G>T c.*989G>T (n.*989G>T) c.471+189G>T (n.471+189G>T) c.459G>T (p.Pro153=) | |
11 | g.1753614C= | CA1947825140 | CTSD | c.1128G= (p.Pro376=) c.1023G= (p.Pro341=) c.553G= c.*294G= (n.*294G=) c.1245G= (p.Pro415=) c.1071+189G= (n.1071+189G=) c.1107G= (p.Pro369=) c.72+189G= (n.72+189G=) c.1122G= (p.Pro374=) n.726G= n.3556G= c.1110G= (p.Pro370=) c.1119G= (p.Pro373=) n.436G= c.*989G= (n.*989G=) c.471+189G= (n.471+189G=) c.459G= (p.Pro153=) | |
11 | g.1753614C>G | CA216168707 | CTSD | c.1128G>C (p.Pro376=) c.1023G>C (p.Pro341=) c.553G>C c.*294G>C (n.*294G>C) c.1245G>C (p.Pro415=) c.1071+189G>C (n.1071+189G>C) c.1107G>C (p.Pro369=) c.72+189G>C (n.72+189G>C) c.1122G>C (p.Pro374=) n.726G>C n.3556G>C c.1110G>C (p.Pro370=) c.1119G>C (p.Pro373=) n.436G>C c.*989G>C (n.*989G>C) c.471+189G>C (n.471+189G>C) c.459G>C (p.Pro153=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.1753614C>T | CA216168716 | CTSD | c.1128G>A (p.Pro376=) c.1023G>A (p.Pro341=) c.553G>A c.*294G>A (n.*294G>A) c.1245G>A (p.Pro415=) c.1071+189G>A (n.1071+189G>A) c.1107G>A (p.Pro369=) c.72+189G>A (n.72+189G>A) c.1122G>A (p.Pro374=) n.726G>A n.3556G>A c.1110G>A (p.Pro370=) c.1119G>A (p.Pro373=) n.436G>A c.*989G>A (n.*989G>A) c.471+189G>A (n.471+189G>A) c.459G>A (p.Pro153=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1753615G>A | CA5813890 | CTSD | c.1127C>T (p.Pro376Leu) c.1022C>T (p.Pro341Leu) c.552C>T c.*293C>T (n.*293C>T) c.1244C>T (p.Pro415Leu) c.1071+188C>T (n.1071+188C>T) c.1106C>T (p.Pro369Leu) c.72+188C>T (n.72+188C>T) c.1121C>T (p.Pro374Leu) n.725C>T n.3555C>T c.1109C>T (p.Pro370Leu) c.1118C>T (p.Pro373Leu) n.435C>T c.*988C>T (n.*988C>T) c.471+188C>T (n.471+188C>T) c.458C>T (p.Pro153Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753615G>C | CA379092607 | CTSD | c.1127C>G (p.Pro376Arg) c.1022C>G (p.Pro341Arg) c.552C>G c.*293C>G (n.*293C>G) c.1244C>G (p.Pro415Arg) c.1071+188C>G (n.1071+188C>G) c.1106C>G (p.Pro369Arg) c.72+188C>G (n.72+188C>G) c.1121C>G (p.Pro374Arg) n.725C>G n.3555C>G c.1109C>G (p.Pro370Arg) c.1118C>G (p.Pro373Arg) n.435C>G c.*988C>G (n.*988C>G) c.471+188C>G (n.471+188C>G) c.458C>G (p.Pro153Arg) | |
11 | g.1753615G= | CA1947825141 | CTSD | c.1127C= (p.Pro376=) c.1022C= (p.Pro341=) c.552C= c.*293C= (n.*293C=) c.1244C= (p.Pro415=) c.1071+188C= (n.1071+188C=) c.1106C= (p.Pro369=) c.72+188C= (n.72+188C=) c.1121C= (p.Pro374=) n.725C= n.3555C= c.1109C= (p.Pro370=) c.1118C= (p.Pro373=) n.435C= c.*988C= (n.*988C=) c.471+188C= (n.471+188C=) c.458C= (p.Pro153=) | |
11 | g.1753615G>T | CA379092608 | CTSD | c.1127C>A (p.Pro376Gln) c.1022C>A (p.Pro341Gln) c.552C>A c.*293C>A (n.*293C>A) c.1244C>A (p.Pro415Gln) c.1071+188C>A (n.1071+188C>A) c.1106C>A (p.Pro369Gln) c.72+188C>A (n.72+188C>A) c.1121C>A (p.Pro374Gln) n.725C>A n.3555C>A c.1109C>A (p.Pro370Gln) c.1118C>A (p.Pro373Gln) n.435C>A c.*988C>A (n.*988C>A) c.471+188C>A (n.471+188C>A) c.458C>A (p.Pro153Gln) | |
11 | g.1753616G>A | CA379092613 | CTSD | c.1126C>T (p.Pro376Ser) c.1021C>T (p.Pro341Ser) c.551C>T c.*292C>T (n.*292C>T) c.1243C>T (p.Pro415Ser) c.1071+187C>T (n.1071+187C>T) c.1105C>T (p.Pro369Ser) c.72+187C>T (n.72+187C>T) c.1120C>T (p.Pro374Ser) n.724C>T n.3554C>T c.1108C>T (p.Pro370Ser) c.1117C>T (p.Pro373Ser) n.434C>T c.*987C>T (n.*987C>T) c.471+187C>T (n.471+187C>T) c.457C>T (p.Pro153Ser) | |
11 | g.1753616G>C | CA379092610 | CTSD | c.1126C>G (p.Pro376Ala) c.1021C>G (p.Pro341Ala) c.551C>G c.*292C>G (n.*292C>G) c.1243C>G (p.Pro415Ala) c.1071+187C>G (n.1071+187C>G) c.1105C>G (p.Pro369Ala) c.72+187C>G (n.72+187C>G) c.1120C>G (p.Pro374Ala) n.724C>G n.3554C>G c.1108C>G (p.Pro370Ala) c.1117C>G (p.Pro373Ala) n.434C>G c.*987C>G (n.*987C>G) c.471+187C>G (n.471+187C>G) c.457C>G (p.Pro153Ala) | |
11 | g.1753616G>T | CA379092611 | CTSD | c.1126C>A (p.Pro376Thr) c.1021C>A (p.Pro341Thr) c.551C>A c.*292C>A (n.*292C>A) c.1243C>A (p.Pro415Thr) c.1071+187C>A (n.1071+187C>A) c.1105C>A (p.Pro369Thr) c.72+187C>A (n.72+187C>A) c.1120C>A (p.Pro374Thr) n.724C>A n.3554C>A c.1108C>A (p.Pro370Thr) c.1117C>A (p.Pro373Thr) n.434C>A c.*987C>A (n.*987C>A) c.471+187C>A (n.471+187C>A) c.457C>A (p.Pro153Thr) | |
11 | g.1753617G>A | CA472140588 | CTSD | c.1125C>T (p.Ile375=) c.1020C>T (p.Ile340=) c.550C>T c.*291C>T (n.*291C>T) c.1242C>T (p.Ile414=) c.1071+186C>T (n.1071+186C>T) c.1104C>T (p.Ile368=) c.72+186C>T (n.72+186C>T) c.1119C>T (p.Ile373=) n.723C>T n.3553C>T c.1107C>T (p.Ile369=) c.1116C>T (p.Ile372=) n.433C>T c.*986C>T (n.*986C>T) c.471+186C>T (n.471+186C>T) c.456C>T (p.Ile152=) | ClinVar COSMIC |
11 | g.1753617G>C | CA379092615 | CTSD | c.1125C>G (p.Ile375Met) c.1020C>G (p.Ile340Met) c.550C>G c.*291C>G (n.*291C>G) c.1242C>G (p.Ile414Met) c.1071+186C>G (n.1071+186C>G) c.1104C>G (p.Ile368Met) c.72+186C>G (n.72+186C>G) c.1119C>G (p.Ile373Met) n.723C>G n.3553C>G c.1107C>G (p.Ile369Met) c.1116C>G (p.Ile372Met) n.433C>G c.*986C>G (n.*986C>G) c.471+186C>G (n.471+186C>G) c.456C>G (p.Ile152Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753617G= | CA1947825142 | CTSD | c.1125C= (p.Ile375=) c.1020C= (p.Ile340=) c.550C= c.*291C= (n.*291C=) c.1242C= (p.Ile414=) c.1071+186C= (n.1071+186C=) c.1104C= (p.Ile368=) c.72+186C= (n.72+186C=) c.1119C= (p.Ile373=) n.723C= n.3553C= c.1107C= (p.Ile369=) c.1116C= (p.Ile372=) n.433C= c.*986C= (n.*986C=) c.471+186C= (n.471+186C=) c.456C= (p.Ile152=) | |
11 | g.1753617G>T | CA472140587 | CTSD | c.1125C>A (p.Ile375=) c.1020C>A (p.Ile340=) c.550C>A c.*291C>A (n.*291C>A) c.1242C>A (p.Ile414=) c.1071+186C>A (n.1071+186C>A) c.1104C>A (p.Ile368=) c.72+186C>A (n.72+186C>A) c.1119C>A (p.Ile373=) n.723C>A n.3553C>A c.1107C>A (p.Ile369=) c.1116C>A (p.Ile372=) n.433C>A c.*986C>A (n.*986C>A) c.471+186C>A (n.471+186C>A) c.456C>A (p.Ile152=) | dbSNP |
11 | g.1753618A>C | CA379092617 | CTSD | c.1124T>G (p.Ile375Ser) c.1019T>G (p.Ile340Ser) c.549T>G c.*290T>G (n.*290T>G) c.1241T>G (p.Ile414Ser) c.1071+185T>G (n.1071+185T>G) c.1103T>G (p.Ile368Ser) c.72+185T>G (n.72+185T>G) c.1118T>G (p.Ile373Ser) n.722T>G n.3552T>G c.1106T>G (p.Ile369Ser) c.1115T>G (p.Ile372Ser) n.432T>G c.*985T>G (n.*985T>G) c.471+185T>G (n.471+185T>G) c.455T>G (p.Ile152Ser) | |
11 | g.1753618A>G | CA379092620 | CTSD | c.1124T>C (p.Ile375Thr) c.1019T>C (p.Ile340Thr) c.549T>C c.*290T>C (n.*290T>C) c.1241T>C (p.Ile414Thr) c.1071+185T>C (n.1071+185T>C) c.1103T>C (p.Ile368Thr) c.72+185T>C (n.72+185T>C) c.1118T>C (p.Ile373Thr) n.722T>C n.3552T>C c.1106T>C (p.Ile369Thr) c.1115T>C (p.Ile372Thr) n.432T>C c.*985T>C (n.*985T>C) c.471+185T>C (n.471+185T>C) c.455T>C (p.Ile152Thr) | |
11 | g.1753618A>T | CA379092622 | CTSD | c.1124T>A (p.Ile375Asn) c.1019T>A (p.Ile340Asn) c.549T>A c.*290T>A (n.*290T>A) c.1241T>A (p.Ile414Asn) c.1071+185T>A (n.1071+185T>A) c.1103T>A (p.Ile368Asn) c.72+185T>A (n.72+185T>A) c.1118T>A (p.Ile373Asn) n.722T>A n.3552T>A c.1106T>A (p.Ile369Asn) c.1115T>A (p.Ile372Asn) n.432T>A c.*985T>A (n.*985T>A) c.471+185T>A (n.471+185T>A) c.455T>A (p.Ile152Asn) | |
11 | g.1753619T>A | CA379092625 | CTSD | c.1123A>T (p.Ile375Phe) c.1018A>T (p.Ile340Phe) c.548A>T c.*289A>T (n.*289A>T) c.1240A>T (p.Ile414Phe) c.1071+184A>T (n.1071+184A>T) c.1102A>T (p.Ile368Phe) c.72+184A>T (n.72+184A>T) c.1117A>T (p.Ile373Phe) n.721A>T n.3551A>T c.1105A>T (p.Ile369Phe) c.1114A>T (p.Ile372Phe) n.431A>T c.*984A>T (n.*984A>T) c.471+184A>T (n.471+184A>T) c.454A>T (p.Ile152Phe) | |
11 | g.1753619T>C | CA379092627 | CTSD | c.1123A>G (p.Ile375Val) c.1018A>G (p.Ile340Val) c.548A>G c.*289A>G (n.*289A>G) c.1240A>G (p.Ile414Val) c.1071+184A>G (n.1071+184A>G) c.1102A>G (p.Ile368Val) c.72+184A>G (n.72+184A>G) c.1117A>G (p.Ile373Val) n.721A>G n.3551A>G c.1105A>G (p.Ile369Val) c.1114A>G (p.Ile372Val) n.431A>G c.*984A>G (n.*984A>G) c.471+184A>G (n.471+184A>G) c.454A>G (p.Ile152Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753619T>G | CA379092628 | CTSD | c.1123A>C (p.Ile375Leu) c.1018A>C (p.Ile340Leu) c.548A>C c.*289A>C (n.*289A>C) c.1240A>C (p.Ile414Leu) c.1071+184A>C (n.1071+184A>C) c.1102A>C (p.Ile368Leu) c.72+184A>C (n.72+184A>C) c.1117A>C (p.Ile373Leu) n.721A>C n.3551A>C c.1105A>C (p.Ile369Leu) c.1114A>C (p.Ile372Leu) n.431A>C c.*984A>C (n.*984A>C) c.471+184A>C (n.471+184A>C) c.454A>C (p.Ile152Leu) | |
11 | g.1753619T= | CA1947825143 | CTSD | c.1123A= (p.Ile375=) c.1018A= (p.Ile340=) c.548A= c.*289A= (n.*289A=) c.1240A= (p.Ile414=) c.1071+184A= (n.1071+184A=) c.1102A= (p.Ile368=) c.72+184A= (n.72+184A=) c.1117A= (p.Ile373=) n.721A= n.3551A= c.1105A= (p.Ile369=) c.1114A= (p.Ile372=) n.431A= c.*984A= (n.*984A=) c.471+184A= (n.471+184A=) c.454A= (p.Ile152=) | |
11 | g.1753620G>A | CA290532 | CTSD | c.1122C>T (p.Asp374=) c.1017C>T (p.Asp339=) c.547C>T c.*288C>T (n.*288C>T) c.1239C>T (p.Asp413=) c.1071+183C>T (n.1071+183C>T) c.1101C>T (p.Asp367=) c.72+183C>T (n.72+183C>T) c.1116C>T (p.Asp372=) n.720C>T n.3550C>T c.1104C>T (p.Asp368=) c.1113C>T (p.Asp371=) n.430C>T c.*983C>T (n.*983C>T) c.471+183C>T (n.471+183C>T) c.453C>T (p.Asp151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753620G>C | CA379092630 | CTSD | c.1122C>G (p.Asp374Glu) c.1017C>G (p.Asp339Glu) c.547C>G c.*288C>G (n.*288C>G) c.1239C>G (p.Asp413Glu) c.1071+183C>G (n.1071+183C>G) c.1101C>G (p.Asp367Glu) c.72+183C>G (n.72+183C>G) c.1116C>G (p.Asp372Glu) n.720C>G n.3550C>G c.1104C>G (p.Asp368Glu) c.1113C>G (p.Asp371Glu) n.430C>G c.*983C>G (n.*983C>G) c.471+183C>G (n.471+183C>G) c.453C>G (p.Asp151Glu) | |
11 | g.1753620G= | CA1947825144 | CTSD | c.1122C= (p.Asp374=) c.1017C= (p.Asp339=) c.547C= c.*288C= (n.*288C=) c.1239C= (p.Asp413=) c.1071+183C= (n.1071+183C=) c.1101C= (p.Asp367=) c.72+183C= (n.72+183C=) c.1116C= (p.Asp372=) n.720C= n.3550C= c.1104C= (p.Asp368=) c.1113C= (p.Asp371=) n.430C= c.*983C= (n.*983C=) c.471+183C= (n.471+183C=) c.453C= (p.Asp151=) | |
11 | g.1753620G>T | CA379092631 | CTSD | c.1122C>A (p.Asp374Glu) c.1017C>A (p.Asp339Glu) c.547C>A c.*288C>A (n.*288C>A) c.1239C>A (p.Asp413Glu) c.1071+183C>A (n.1071+183C>A) c.1101C>A (p.Asp367Glu) c.72+183C>A (n.72+183C>A) c.1116C>A (p.Asp372Glu) n.720C>A n.3550C>A c.1104C>A (p.Asp368Glu) c.1113C>A (p.Asp371Glu) n.430C>A c.*983C>A (n.*983C>A) c.471+183C>A (n.471+183C>A) c.453C>A (p.Asp151Glu) | |
11 | g.1753621T>A | CA379092633 | CTSD | c.1121A>T (p.Asp374Val) c.1016A>T (p.Asp339Val) c.546A>T c.*287A>T (n.*287A>T) c.1238A>T (p.Asp413Val) c.1071+182A>T (n.1071+182A>T) c.1100A>T (p.Asp367Val) c.72+182A>T (n.72+182A>T) c.1115A>T (p.Asp372Val) n.719A>T n.3549A>T c.1103A>T (p.Asp368Val) c.1112A>T (p.Asp371Val) n.429A>T c.*982A>T (n.*982A>T) c.471+182A>T (n.471+182A>T) c.452A>T (p.Asp151Val) | |
11 | g.1753621T>C | CA379092635 | CTSD | c.1121A>G (p.Asp374Gly) c.1016A>G (p.Asp339Gly) c.546A>G c.*287A>G (n.*287A>G) c.1238A>G (p.Asp413Gly) c.1071+182A>G (n.1071+182A>G) c.1100A>G (p.Asp367Gly) c.72+182A>G (n.72+182A>G) c.1115A>G (p.Asp372Gly) n.719A>G n.3549A>G c.1103A>G (p.Asp368Gly) c.1112A>G (p.Asp371Gly) n.429A>G c.*982A>G (n.*982A>G) c.471+182A>G (n.471+182A>G) c.452A>G (p.Asp151Gly) | |
11 | g.1753621T>G | CA379092637 | CTSD | c.1121A>C (p.Asp374Ala) c.1016A>C (p.Asp339Ala) c.546A>C c.*287A>C (n.*287A>C) c.1238A>C (p.Asp413Ala) c.1071+182A>C (n.1071+182A>C) c.1100A>C (p.Asp367Ala) c.72+182A>C (n.72+182A>C) c.1115A>C (p.Asp372Ala) n.719A>C n.3549A>C c.1103A>C (p.Asp368Ala) c.1112A>C (p.Asp371Ala) n.429A>C c.*982A>C (n.*982A>C) c.471+182A>C (n.471+182A>C) c.452A>C (p.Asp151Ala) | |
11 | g.1753621_1753622delinsTC | CA1947825145 | CTSD | c.1120_1121delinsGA (p.Asp374=) c.1015_1016delinsGA (p.Asp339=) c.545_546delinsGA c.*286_*287delinsGA (n.*286_*287delinsGA) c.1237_1238delinsGA (p.Asp413=) c.1071+181_1071+182delinsGA (n.1071+181_1071+182delinsGA) c.1099_1100delinsGA (p.Asp367=) c.72+181_72+182delinsGA (n.72+181_72+182delinsGA) c.1114_1115delinsGA (p.Asp372=) n.718_719delinsGA n.3548_3549delinsGA c.1102_1103delinsGA (p.Asp368=) c.1111_1112delinsGA (p.Asp371=) n.428_429delinsGA c.*981_*982delinsGA (n.*981_*982delinsGA) c.471+181_471+182delinsGA (n.471+181_471+182delinsGA) c.451_452delinsGA (p.Asp151=) | |
11 | g.1753622C>A | CA379092641 | CTSD | c.1120G>T (p.Asp374Tyr) c.1015G>T (p.Asp339Tyr) c.545G>T c.*286G>T (n.*286G>T) c.1237G>T (p.Asp413Tyr) c.1071+181G>T (n.1071+181G>T) c.1099G>T (p.Asp367Tyr) c.72+181G>T (n.72+181G>T) c.1114G>T (p.Asp372Tyr) n.718G>T n.3548G>T c.1102G>T (p.Asp368Tyr) c.1111G>T (p.Asp371Tyr) n.428G>T c.*981G>T (n.*981G>T) c.471+181G>T (n.471+181G>T) c.451G>T (p.Asp151Tyr) | |
11 | g.1753622C>G | CA379092643 | CTSD | c.1120G>C (p.Asp374His) c.1015G>C (p.Asp339His) c.545G>C c.*286G>C (n.*286G>C) c.1237G>C (p.Asp413His) c.1071+181G>C (n.1071+181G>C) c.1099G>C (p.Asp367His) c.72+181G>C (n.72+181G>C) c.1114G>C (p.Asp372His) n.718G>C n.3548G>C c.1102G>C (p.Asp368His) c.1111G>C (p.Asp371His) n.428G>C c.*981G>C (n.*981G>C) c.471+181G>C (n.471+181G>C) c.451G>C (p.Asp151His) | |
11 | g.1753622C>T | CA379092639 | CTSD | c.1120G>A (p.Asp374Asn) c.1015G>A (p.Asp339Asn) c.545G>A c.*286G>A (n.*286G>A) c.1237G>A (p.Asp413Asn) c.1071+181G>A (n.1071+181G>A) c.1099G>A (p.Asp367Asn) c.72+181G>A (n.72+181G>A) c.1114G>A (p.Asp372Asn) n.718G>A n.3548G>A c.1102G>A (p.Asp368Asn) c.1111G>A (p.Asp371Asn) n.428G>A c.*981G>A (n.*981G>A) c.471+181G>A (n.471+181G>A) c.451G>A (p.Asp151Asn) | |
11 | g.1753623del | CA1947825146 | CTSD | c.1120del (p.Asp374ThrfsTer?) c.1015del (p.Asp339ThrfsTer?) c.545del c.*286del (n.*286del) c.1237del (p.Asp413ThrfsTer?) c.1071+181del (n.1071+181del) c.1099del (p.Asp367ThrfsTer?) c.72+181del (n.72+181del) c.1114del (p.Asp372ThrfsTer?) n.718del n.3548del c.1102del (p.Asp368ThrfsTer?) c.1111del (p.Asp371ThrfsTer?) n.428del c.*981del (n.*981del) c.471+181del (n.471+181del) c.451del (p.Asp151ThrfsTer?) | dbSNP |
11 | g.1753623C>A | CA379092645 | CTSD | c.1119G>T (p.Met373Ile) c.1014G>T (p.Met338Ile) c.544G>T c.*285G>T (n.*285G>T) c.1236G>T (p.Met412Ile) c.1071+180G>T (n.1071+180G>T) c.1098G>T (p.Met366Ile) c.72+180G>T (n.72+180G>T) c.1113G>T (p.Met371Ile) n.717G>T n.3547G>T c.1101G>T (p.Met367Ile) c.1110G>T (p.Met370Ile) n.427G>T c.*980G>T (n.*980G>T) c.471+180G>T (n.471+180G>T) c.450G>T (p.Met150Ile) | ClinVar |
11 | g.1753623C= | CA1947825147 | CTSD | c.1119G= (p.Met373=) c.1014G= (p.Met338=) c.544G= c.*285G= (n.*285G=) c.1236G= (p.Met412=) c.1071+180G= (n.1071+180G=) c.1098G= (p.Met366=) c.72+180G= (n.72+180G=) c.1113G= (p.Met371=) n.717G= n.3547G= c.1101G= (p.Met367=) c.1110G= (p.Met370=) n.427G= c.*980G= (n.*980G=) c.471+180G= (n.471+180G=) c.450G= (p.Met150=) | |
11 | g.1753623C>G | CA314328 | CTSD | c.1119G>C (p.Met373Ile) c.1014G>C (p.Met338Ile) c.544G>C c.*285G>C (n.*285G>C) c.1236G>C (p.Met412Ile) c.1071+180G>C (n.1071+180G>C) c.1098G>C (p.Met366Ile) c.72+180G>C (n.72+180G>C) c.1113G>C (p.Met371Ile) n.717G>C n.3547G>C c.1101G>C (p.Met367Ile) c.1110G>C (p.Met370Ile) n.427G>C c.*980G>C (n.*980G>C) c.471+180G>C (n.471+180G>C) c.450G>C (p.Met150Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.1753623C>T | CA379092647 | CTSD | c.1119G>A (p.Met373Ile) c.1014G>A (p.Met338Ile) c.544G>A c.*285G>A (n.*285G>A) c.1236G>A (p.Met412Ile) c.1071+180G>A (n.1071+180G>A) c.1098G>A (p.Met366Ile) c.72+180G>A (n.72+180G>A) c.1113G>A (p.Met371Ile) n.717G>A n.3547G>A c.1101G>A (p.Met367Ile) c.1110G>A (p.Met370Ile) n.427G>A c.*980G>A (n.*980G>A) c.471+180G>A (n.471+180G>A) c.450G>A (p.Met150Ile) | |
11 | g.1753624A= | CA1947825148 | CTSD | c.1118T= (p.Met373=) c.1013T= (p.Met338=) c.543T= c.*284T= (n.*284T=) c.1235T= (p.Met412=) c.1071+179T= (n.1071+179T=) c.1097T= (p.Met366=) c.72+179T= (n.72+179T=) c.1112T= (p.Met371=) n.716T= n.3546T= c.1100T= (p.Met367=) c.1109T= (p.Met370=) n.426T= c.*979T= (n.*979T=) c.471+179T= (n.471+179T=) c.449T= (p.Met150=) | |
11 | g.1753624A>C | CA379092649 | CTSD | c.1118T>G (p.Met373Arg) c.1013T>G (p.Met338Arg) c.543T>G c.*284T>G (n.*284T>G) c.1235T>G (p.Met412Arg) c.1071+179T>G (n.1071+179T>G) c.1097T>G (p.Met366Arg) c.72+179T>G (n.72+179T>G) c.1112T>G (p.Met371Arg) n.716T>G n.3546T>G c.1100T>G (p.Met367Arg) c.1109T>G (p.Met370Arg) n.426T>G c.*979T>G (n.*979T>G) c.471+179T>G (n.471+179T>G) c.449T>G (p.Met150Arg) | |
11 | g.1753624A>G | CA379092650 | CTSD | c.1118T>C (p.Met373Thr) c.1013T>C (p.Met338Thr) c.543T>C c.*284T>C (n.*284T>C) c.1235T>C (p.Met412Thr) c.1071+179T>C (n.1071+179T>C) c.1097T>C (p.Met366Thr) c.72+179T>C (n.72+179T>C) c.1112T>C (p.Met371Thr) n.716T>C n.3546T>C c.1100T>C (p.Met367Thr) c.1109T>C (p.Met370Thr) n.426T>C c.*979T>C (n.*979T>C) c.471+179T>C (n.471+179T>C) c.449T>C (p.Met150Thr) | dbSNP gnomAD v2 |
11 | g.1753624A>T | CA379092652 | CTSD | c.1118T>A (p.Met373Lys) c.1013T>A (p.Met338Lys) c.543T>A c.*284T>A (n.*284T>A) c.1235T>A (p.Met412Lys) c.1071+179T>A (n.1071+179T>A) c.1097T>A (p.Met366Lys) c.72+179T>A (n.72+179T>A) c.1112T>A (p.Met371Lys) n.716T>A n.3546T>A c.1100T>A (p.Met367Lys) c.1109T>A (p.Met370Lys) n.426T>A c.*979T>A (n.*979T>A) c.471+179T>A (n.471+179T>A) c.449T>A (p.Met150Lys) | |
11 | g.1753625T>A | CA379092653 | CTSD | c.1117A>T (p.Met373Leu) c.1012A>T (p.Met338Leu) c.542A>T c.*283A>T (n.*283A>T) c.1234A>T (p.Met412Leu) c.1071+178A>T (n.1071+178A>T) c.1096A>T (p.Met366Leu) c.72+178A>T (n.72+178A>T) c.1111A>T (p.Met371Leu) n.715A>T n.3545A>T c.1099A>T (p.Met367Leu) c.1108A>T (p.Met370Leu) n.425A>T c.*978A>T (n.*978A>T) c.471+178A>T (n.471+178A>T) c.448A>T (p.Met150Leu) | |
11 | g.1753625T>C | CA379092655 | CTSD | c.1117A>G (p.Met373Val) c.1012A>G (p.Met338Val) c.542A>G c.*283A>G (n.*283A>G) c.1234A>G (p.Met412Val) c.1071+178A>G (n.1071+178A>G) c.1096A>G (p.Met366Val) c.72+178A>G (n.72+178A>G) c.1111A>G (p.Met371Val) n.715A>G n.3545A>G c.1099A>G (p.Met367Val) c.1108A>G (p.Met370Val) n.425A>G c.*978A>G (n.*978A>G) c.471+178A>G (n.471+178A>G) c.448A>G (p.Met150Val) | gnomAD v4 |
11 | g.1753625T>G | CA379092657 | CTSD | c.1117A>C (p.Met373Leu) c.1012A>C (p.Met338Leu) c.542A>C c.*283A>C (n.*283A>C) c.1234A>C (p.Met412Leu) c.1071+178A>C (n.1071+178A>C) c.1096A>C (p.Met366Leu) c.72+178A>C (n.72+178A>C) c.1111A>C (p.Met371Leu) n.715A>C n.3545A>C c.1099A>C (p.Met367Leu) c.1108A>C (p.Met370Leu) n.425A>C c.*978A>C (n.*978A>C) c.471+178A>C (n.471+178A>C) c.448A>C (p.Met150Leu) | |
11 | g.1753626G>A | CA5813891 | CTSD | c.1116C>T (p.Gly372=) c.1011C>T (p.Gly337=) c.541C>T c.*282C>T (n.*282C>T) c.1233C>T (p.Gly411=) c.1071+177C>T (n.1071+177C>T) c.1095C>T (p.Gly365=) c.72+177C>T (n.72+177C>T) c.1110C>T (p.Gly370=) n.714C>T n.3544C>T c.1098C>T (p.Gly366=) c.1107C>T (p.Gly369=) n.424C>T c.*977C>T (n.*977C>T) c.471+177C>T (n.471+177C>T) c.447C>T (p.Gly149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753626G>C | CA472140654 | CTSD | c.1116C>G (p.Gly372=) c.1011C>G (p.Gly337=) c.541C>G c.*282C>G (n.*282C>G) c.1233C>G (p.Gly411=) c.1071+177C>G (n.1071+177C>G) c.1095C>G (p.Gly365=) c.72+177C>G (n.72+177C>G) c.1110C>G (p.Gly370=) n.714C>G n.3544C>G c.1098C>G (p.Gly366=) c.1107C>G (p.Gly369=) n.424C>G c.*977C>G (n.*977C>G) c.471+177C>G (n.471+177C>G) c.447C>G (p.Gly149=) | |
11 | g.1753626G= | CA1947825149 | CTSD | c.1116C= (p.Gly372=) c.1011C= (p.Gly337=) c.541C= c.*282C= (n.*282C=) c.1233C= (p.Gly411=) c.1071+177C= (n.1071+177C=) c.1095C= (p.Gly365=) c.72+177C= (n.72+177C=) c.1110C= (p.Gly370=) n.714C= n.3544C= c.1098C= (p.Gly366=) c.1107C= (p.Gly369=) n.424C= c.*977C= (n.*977C=) c.471+177C= (n.471+177C=) c.447C= (p.Gly149=) | |
11 | g.1753626G>T | CA472140666 | CTSD | c.1116C>A (p.Gly372=) c.1011C>A (p.Gly337=) c.541C>A c.*282C>A (n.*282C>A) c.1233C>A (p.Gly411=) c.1071+177C>A (n.1071+177C>A) c.1095C>A (p.Gly365=) c.72+177C>A (n.72+177C>A) c.1110C>A (p.Gly370=) n.714C>A n.3544C>A c.1098C>A (p.Gly366=) c.1107C>A (p.Gly369=) n.424C>A c.*977C>A (n.*977C>A) c.471+177C>A (n.471+177C>A) c.447C>A (p.Gly149=) | dbSNP |
11 | g.1753627C>A | CA379092659 | CTSD | c.1115G>T (p.Gly372Val) c.1010G>T (p.Gly337Val) c.540G>T c.*281G>T (n.*281G>T) c.1232G>T (p.Gly411Val) c.1071+176G>T (n.1071+176G>T) c.1094G>T (p.Gly365Val) c.72+176G>T (n.72+176G>T) c.1109G>T (p.Gly370Val) n.713G>T n.3543G>T c.1097G>T (p.Gly366Val) c.1106G>T (p.Gly369Val) n.423G>T c.*976G>T (n.*976G>T) c.471+176G>T (n.471+176G>T) c.446G>T (p.Gly149Val) | |
11 | g.1753627C>G | CA379092660 | CTSD | c.1115G>C (p.Gly372Ala) c.1010G>C (p.Gly337Ala) c.540G>C c.*281G>C (n.*281G>C) c.1232G>C (p.Gly411Ala) c.1071+176G>C (n.1071+176G>C) c.1094G>C (p.Gly365Ala) c.72+176G>C (n.72+176G>C) c.1109G>C (p.Gly370Ala) n.713G>C n.3543G>C c.1097G>C (p.Gly366Ala) c.1106G>C (p.Gly369Ala) n.423G>C c.*976G>C (n.*976G>C) c.471+176G>C (n.471+176G>C) c.446G>C (p.Gly149Ala) | |
11 | g.1753627C>T | CA379092662 | CTSD | c.1115G>A (p.Gly372Asp) c.1010G>A (p.Gly337Asp) c.540G>A c.*281G>A (n.*281G>A) c.1232G>A (p.Gly411Asp) c.1071+176G>A (n.1071+176G>A) c.1094G>A (p.Gly365Asp) c.72+176G>A (n.72+176G>A) c.1109G>A (p.Gly370Asp) n.713G>A n.3543G>A c.1097G>A (p.Gly366Asp) c.1106G>A (p.Gly369Asp) n.423G>A c.*976G>A (n.*976G>A) c.471+176G>A (n.471+176G>A) c.446G>A (p.Gly149Asp) | |
11 | g.1753629del | CA2839581014 | CTSD | c.1115del (p.Gly372AlafsTer?) c.1010del (p.Gly337AlafsTer?) c.540del c.*281del (n.*281del) c.1232del (p.Gly411AlafsTer?) c.1071+176del (n.1071+176del) c.1094del (p.Gly365AlafsTer?) c.72+176del (n.72+176del) c.1109del (p.Gly370AlafsTer?) n.713del n.3543del c.1097del (p.Gly366AlafsTer?) c.1106del (p.Gly369AlafsTer?) n.423del c.*976del (n.*976del) c.471+176del (n.471+176del) c.446del (p.Gly149AlafsTer?) | |
11 | g.1753628C>A | CA379092665 | CTSD | c.1114G>T (p.Gly372Cys) c.1009G>T (p.Gly337Cys) c.539G>T c.*280G>T (n.*280G>T) c.1231G>T (p.Gly411Cys) c.1071+175G>T (n.1071+175G>T) c.1093G>T (p.Gly365Cys) c.72+175G>T (n.72+175G>T) c.1108G>T (p.Gly370Cys) n.712G>T n.3542G>T c.1096G>T (p.Gly366Cys) c.1105G>T (p.Gly369Cys) n.422G>T c.*975G>T (n.*975G>T) c.471+175G>T (n.471+175G>T) c.445G>T (p.Gly149Cys) | |
11 | g.1753628C>G | CA379092664 | CTSD | c.1114G>C (p.Gly372Arg) c.1009G>C (p.Gly337Arg) c.539G>C c.*280G>C (n.*280G>C) c.1231G>C (p.Gly411Arg) c.1071+175G>C (n.1071+175G>C) c.1093G>C (p.Gly365Arg) c.72+175G>C (n.72+175G>C) c.1108G>C (p.Gly370Arg) n.712G>C n.3542G>C c.1096G>C (p.Gly366Arg) c.1105G>C (p.Gly369Arg) n.422G>C c.*975G>C (n.*975G>C) c.471+175G>C (n.471+175G>C) c.445G>C (p.Gly149Arg) | |
11 | g.1753628C>T | CA379092663 | CTSD | c.1114G>A (p.Gly372Ser) c.1009G>A (p.Gly337Ser) c.539G>A c.*280G>A (n.*280G>A) c.1231G>A (p.Gly411Ser) c.1071+175G>A (n.1071+175G>A) c.1093G>A (p.Gly365Ser) c.72+175G>A (n.72+175G>A) c.1108G>A (p.Gly370Ser) n.712G>A n.3542G>A c.1096G>A (p.Gly366Ser) c.1105G>A (p.Gly369Ser) n.422G>A c.*975G>A (n.*975G>A) c.471+175G>A (n.471+175G>A) c.445G>A (p.Gly149Ser) | |
11 | g.1753629C>A | CA379092666 | CTSD | c.1113G>T (p.Met371Ile) c.1008G>T (p.Met336Ile) c.538G>T c.*279G>T (n.*279G>T) c.1230G>T (p.Met410Ile) c.1071+174G>T (n.1071+174G>T) c.1092G>T (p.Met364Ile) c.72+174G>T (n.72+174G>T) c.1107G>T (p.Met369Ile) n.711G>T n.3541G>T c.1095G>T (p.Met365Ile) c.1104G>T (p.Met368Ile) n.421G>T c.*974G>T (n.*974G>T) c.471+174G>T (n.471+174G>T) c.444G>T (p.Met148Ile) | |
11 | g.1753629C= | CA1947825150 | CTSD | c.1113G= (p.Met371=) c.1008G= (p.Met336=) c.538G= c.*279G= (n.*279G=) c.1230G= (p.Met410=) c.1071+174G= (n.1071+174G=) c.1092G= (p.Met364=) c.72+174G= (n.72+174G=) c.1107G= (p.Met369=) n.711G= n.3541G= c.1095G= (p.Met365=) c.1104G= (p.Met368=) n.421G= c.*974G= (n.*974G=) c.471+174G= (n.471+174G=) c.444G= (p.Met148=) | |
11 | g.1753629C>G | CA379092667 | CTSD | c.1113G>C (p.Met371Ile) c.1008G>C (p.Met336Ile) c.538G>C c.*279G>C (n.*279G>C) c.1230G>C (p.Met410Ile) c.1071+174G>C (n.1071+174G>C) c.1092G>C (p.Met364Ile) c.72+174G>C (n.72+174G>C) c.1107G>C (p.Met369Ile) n.711G>C n.3541G>C c.1095G>C (p.Met365Ile) c.1104G>C (p.Met368Ile) n.421G>C c.*974G>C (n.*974G>C) c.471+174G>C (n.471+174G>C) c.444G>C (p.Met148Ile) | |
11 | g.1753629C>T | CA379092668 | CTSD | c.1113G>A (p.Met371Ile) c.1008G>A (p.Met336Ile) c.538G>A c.*279G>A (n.*279G>A) c.1230G>A (p.Met410Ile) c.1071+174G>A (n.1071+174G>A) c.1092G>A (p.Met364Ile) c.72+174G>A (n.72+174G>A) c.1107G>A (p.Met369Ile) n.711G>A n.3541G>A c.1095G>A (p.Met365Ile) c.1104G>A (p.Met368Ile) n.421G>A c.*974G>A (n.*974G>A) c.471+174G>A (n.471+174G>A) c.444G>A (p.Met148Ile) | |
11 | g.1753629_1753630insG | CA597430544 | CTSD | c.1112_1113insC (p.Met371IlefsTer28) c.1007_1008insC (p.Met336IlefsTer28) c.537_538insC c.*278_*279insC (n.*278_*279insC) c.1229_1230insC (p.Met410IlefsTer28) c.1071+173_1071+174insC (n.1071+173_1071+174insC) c.1091_1092insC (p.Met364IlefsTer28) c.72+173_72+174insC (n.72+173_72+174insC) c.1106_1107insC (p.Met369IlefsTer28) n.710_711insC n.3540_3541insC c.1094_1095insC (p.Met365IlefsTer28) c.1103_1104insC (p.Met368IlefsTer28) n.420_421insC c.*973_*974insC (n.*973_*974insC) c.471+173_471+174insC (n.471+173_471+174insC) c.443_444insC (p.Met148IlefsTer28) | dbSNP gnomAD v2 |
11 | g.1753630A= | CA1947825151 | CTSD | c.1112T= (p.Met371=) c.1007T= (p.Met336=) c.537T= c.*278T= (n.*278T=) c.1229T= (p.Met410=) c.1071+173T= (n.1071+173T=) c.1091T= (p.Met364=) c.72+173T= (n.72+173T=) c.1106T= (p.Met369=) n.710T= n.3540T= c.1094T= (p.Met365=) c.1103T= (p.Met368=) n.420T= c.*973T= (n.*973T=) c.471+173T= (n.471+173T=) c.443T= (p.Met148=) | |
11 | g.1753630A>C | CA379092669 | CTSD | c.1112T>G (p.Met371Arg) c.1007T>G (p.Met336Arg) c.537T>G c.*278T>G (n.*278T>G) c.1229T>G (p.Met410Arg) c.1071+173T>G (n.1071+173T>G) c.1091T>G (p.Met364Arg) c.72+173T>G (n.72+173T>G) c.1106T>G (p.Met369Arg) n.710T>G n.3540T>G c.1094T>G (p.Met365Arg) c.1103T>G (p.Met368Arg) n.420T>G c.*973T>G (n.*973T>G) c.471+173T>G (n.471+173T>G) c.443T>G (p.Met148Arg) | COSMIC |
11 | g.1753630A>G | CA5813892 | CTSD | c.1112T>C (p.Met371Thr) c.1007T>C (p.Met336Thr) c.537T>C c.*278T>C (n.*278T>C) c.1229T>C (p.Met410Thr) c.1071+173T>C (n.1071+173T>C) c.1091T>C (p.Met364Thr) c.72+173T>C (n.72+173T>C) c.1106T>C (p.Met369Thr) n.710T>C n.3540T>C c.1094T>C (p.Met365Thr) c.1103T>C (p.Met368Thr) n.420T>C c.*973T>C (n.*973T>C) c.471+173T>C (n.471+173T>C) c.443T>C (p.Met148Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753630A>T | CA379092670 | CTSD | c.1112T>A (p.Met371Lys) c.1007T>A (p.Met336Lys) c.537T>A c.*278T>A (n.*278T>A) c.1229T>A (p.Met410Lys) c.1071+173T>A (n.1071+173T>A) c.1091T>A (p.Met364Lys) c.72+173T>A (n.72+173T>A) c.1106T>A (p.Met369Lys) n.710T>A n.3540T>A c.1094T>A (p.Met365Lys) c.1103T>A (p.Met368Lys) n.420T>A c.*973T>A (n.*973T>A) c.471+173T>A (n.471+173T>A) c.443T>A (p.Met148Lys) | |
11 | g.1753630_1753631insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAG | CA597430545 | CTSD | c.1111_1112insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met371ThrfsTer45) c.1006_1007insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met336ThrfsTer45) c.536_537insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG c.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG) c.1228_1229insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met410ThrfsTer45) c.1071+172_1071+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.1071+172_1071+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG) c.1090_1091insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met364ThrfsTer45) c.72+172_72+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.72+172_72+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG) c.1105_1106insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met369ThrfsTer45) n.709_710insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG n.3539_3540insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG c.1093_1094insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met365ThrfsTer45) c.1102_1103insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met368ThrfsTer45) n.419_420insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG c.*972_*973insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.*972_*973insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG) c.471+172_471+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (n.471+172_471+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG) c.442_443insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG (p.Met148ThrfsTer45) | gnomAD v2 |
11 | g.1753631T>A | CA379092671 | CTSD | c.1111A>T (p.Met371Leu) c.1006A>T (p.Met336Leu) c.536A>T c.*277A>T (n.*277A>T) c.1228A>T (p.Met410Leu) c.1071+172A>T (n.1071+172A>T) c.1090A>T (p.Met364Leu) c.72+172A>T (n.72+172A>T) c.1105A>T (p.Met369Leu) n.709A>T n.3539A>T c.1093A>T (p.Met365Leu) c.1102A>T (p.Met368Leu) n.419A>T c.*972A>T (n.*972A>T) c.471+172A>T (n.471+172A>T) c.442A>T (p.Met148Leu) | |
11 | g.1753631T>C | CA379092673 | CTSD | c.1111A>G (p.Met371Val) c.1006A>G (p.Met336Val) c.536A>G c.*277A>G (n.*277A>G) c.1228A>G (p.Met410Val) c.1071+172A>G (n.1071+172A>G) c.1090A>G (p.Met364Val) c.72+172A>G (n.72+172A>G) c.1105A>G (p.Met369Val) n.709A>G n.3539A>G c.1093A>G (p.Met365Val) c.1102A>G (p.Met368Val) n.419A>G c.*972A>G (n.*972A>G) c.471+172A>G (n.471+172A>G) c.442A>G (p.Met148Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.1753631T>G | CA379092674 | CTSD | c.1111A>C (p.Met371Leu) c.1006A>C (p.Met336Leu) c.536A>C c.*277A>C (n.*277A>C) c.1228A>C (p.Met410Leu) c.1071+172A>C (n.1071+172A>C) c.1090A>C (p.Met364Leu) c.72+172A>C (n.72+172A>C) c.1105A>C (p.Met369Leu) n.709A>C n.3539A>C c.1093A>C (p.Met365Leu) c.1102A>C (p.Met368Leu) n.419A>C c.*972A>C (n.*972A>C) c.471+172A>C (n.471+172A>C) c.442A>C (p.Met148Leu) | |
11 | g.1753631T= | CA1947825152 | CTSD | c.1111A= (p.Met371=) c.1006A= (p.Met336=) c.536A= c.*277A= (n.*277A=) c.1228A= (p.Met410=) c.1071+172A= (n.1071+172A=) c.1090A= (p.Met364=) c.72+172A= (n.72+172A=) c.1105A= (p.Met369=) n.709A= n.3539A= c.1093A= (p.Met365=) c.1102A= (p.Met368=) n.419A= c.*972A= (n.*972A=) c.471+172A= (n.471+172A=) c.442A= (p.Met148=) | |
11 | g.1753632G>A | CA472140706 | CTSD | c.1110C>T (p.Phe370=) c.1005C>T (p.Phe335=) c.535C>T c.*276C>T (n.*276C>T) c.1227C>T (p.Phe409=) c.1071+171C>T (n.1071+171C>T) c.1089C>T (p.Phe363=) c.72+171C>T (n.72+171C>T) c.1104C>T (p.Phe368=) n.708C>T n.3538C>T c.1092C>T (p.Phe364=) c.1101C>T (p.Phe367=) n.418C>T c.*971C>T (n.*971C>T) c.471+171C>T (n.471+171C>T) c.441C>T (p.Phe147=) | |
11 | g.1753632G>C | CA379092675 | CTSD | c.1110C>G (p.Phe370Leu) c.1005C>G (p.Phe335Leu) c.535C>G c.*276C>G (n.*276C>G) c.1227C>G (p.Phe409Leu) c.1071+171C>G (n.1071+171C>G) c.1089C>G (p.Phe363Leu) c.72+171C>G (n.72+171C>G) c.1104C>G (p.Phe368Leu) n.708C>G n.3538C>G c.1092C>G (p.Phe364Leu) c.1101C>G (p.Phe367Leu) n.418C>G c.*971C>G (n.*971C>G) c.471+171C>G (n.471+171C>G) c.441C>G (p.Phe147Leu) | |
11 | g.1753632G>T | CA379092676 | CTSD | c.1110C>A (p.Phe370Leu) c.1005C>A (p.Phe335Leu) c.535C>A c.*276C>A (n.*276C>A) c.1227C>A (p.Phe409Leu) c.1071+171C>A (n.1071+171C>A) c.1089C>A (p.Phe363Leu) c.72+171C>A (n.72+171C>A) c.1104C>A (p.Phe368Leu) n.708C>A n.3538C>A c.1092C>A (p.Phe364Leu) c.1101C>A (p.Phe367Leu) n.418C>A c.*971C>A (n.*971C>A) c.471+171C>A (n.471+171C>A) c.441C>A (p.Phe147Leu) | |
11 | g.1753633A>C | CA379092678 | CTSD | c.1109T>G (p.Phe370Cys) c.1004T>G (p.Phe335Cys) c.534T>G c.*275T>G (n.*275T>G) c.1226T>G (p.Phe409Cys) c.1071+170T>G (n.1071+170T>G) c.1088T>G (p.Phe363Cys) c.72+170T>G (n.72+170T>G) c.1103T>G (p.Phe368Cys) n.707T>G n.3537T>G c.1091T>G (p.Phe364Cys) c.1100T>G (p.Phe367Cys) n.417T>G c.*970T>G (n.*970T>G) c.471+170T>G (n.471+170T>G) c.440T>G (p.Phe147Cys) | |
11 | g.1753633A>G | CA379092679 | CTSD | c.1109T>C (p.Phe370Ser) c.1004T>C (p.Phe335Ser) c.534T>C c.*275T>C (n.*275T>C) c.1226T>C (p.Phe409Ser) c.1071+170T>C (n.1071+170T>C) c.1088T>C (p.Phe363Ser) c.72+170T>C (n.72+170T>C) c.1103T>C (p.Phe368Ser) n.707T>C n.3537T>C c.1091T>C (p.Phe364Ser) c.1100T>C (p.Phe367Ser) n.417T>C c.*970T>C (n.*970T>C) c.471+170T>C (n.471+170T>C) c.440T>C (p.Phe147Ser) | |
11 | g.1753633A>T | CA379092680 | CTSD | c.1109T>A (p.Phe370Tyr) c.1004T>A (p.Phe335Tyr) c.534T>A c.*275T>A (n.*275T>A) c.1226T>A (p.Phe409Tyr) c.1071+170T>A (n.1071+170T>A) c.1088T>A (p.Phe363Tyr) c.72+170T>A (n.72+170T>A) c.1103T>A (p.Phe368Tyr) n.707T>A n.3537T>A c.1091T>A (p.Phe364Tyr) c.1100T>A (p.Phe367Tyr) n.417T>A c.*970T>A (n.*970T>A) c.471+170T>A (n.471+170T>A) c.440T>A (p.Phe147Tyr) | |
11 | g.1753634A>C | CA379092683 | CTSD | c.1108T>G (p.Phe370Val) c.1003T>G (p.Phe335Val) c.533T>G c.*274T>G (n.*274T>G) c.1225T>G (p.Phe409Val) c.1071+169T>G (n.1071+169T>G) c.1087T>G (p.Phe363Val) c.72+169T>G (n.72+169T>G) c.1102T>G (p.Phe368Val) n.706T>G n.3536T>G c.1090T>G (p.Phe364Val) c.1099T>G (p.Phe367Val) n.416T>G c.*969T>G (n.*969T>G) c.471+169T>G (n.471+169T>G) c.439T>G (p.Phe147Val) | |
11 | g.1753634A>G | CA379092682 | CTSD | c.1108T>C (p.Phe370Leu) c.1003T>C (p.Phe335Leu) c.533T>C c.*274T>C (n.*274T>C) c.1225T>C (p.Phe409Leu) c.1071+169T>C (n.1071+169T>C) c.1087T>C (p.Phe363Leu) c.72+169T>C (n.72+169T>C) c.1102T>C (p.Phe368Leu) n.706T>C n.3536T>C c.1090T>C (p.Phe364Leu) c.1099T>C (p.Phe367Leu) n.416T>C c.*969T>C (n.*969T>C) c.471+169T>C (n.471+169T>C) c.439T>C (p.Phe147Leu) | |
11 | g.1753634A>T | CA379092681 | CTSD | c.1108T>A (p.Phe370Ile) c.1003T>A (p.Phe335Ile) c.533T>A c.*274T>A (n.*274T>A) c.1225T>A (p.Phe409Ile) c.1071+169T>A (n.1071+169T>A) c.1087T>A (p.Phe363Ile) c.72+169T>A (n.72+169T>A) c.1102T>A (p.Phe368Ile) n.706T>A n.3536T>A c.1090T>A (p.Phe364Ile) c.1099T>A (p.Phe367Ile) n.416T>A c.*969T>A (n.*969T>A) c.471+169T>A (n.471+169T>A) c.439T>A (p.Phe147Ile) | |
11 | g.1753635G>A | CA472140722 | CTSD | c.1107C>T (p.Gly369=) c.1002C>T (p.Gly334=) c.532C>T c.*273C>T (n.*273C>T) c.1224C>T (p.Gly408=) c.1071+168C>T (n.1071+168C>T) c.1086C>T (p.Gly362=) c.72+168C>T (n.72+168C>T) c.1101C>T (p.Gly367=) n.705C>T n.3535C>T c.1089C>T (p.Gly363=) c.1098C>T (p.Gly366=) n.415C>T c.*968C>T (n.*968C>T) c.471+168C>T (n.471+168C>T) c.438C>T (p.Gly146=) | |
11 | g.1753635G>C | CA472140724 | CTSD | c.1107C>G (p.Gly369=) c.1002C>G (p.Gly334=) c.532C>G c.*273C>G (n.*273C>G) c.1224C>G (p.Gly408=) c.1071+168C>G (n.1071+168C>G) c.1086C>G (p.Gly362=) c.72+168C>G (n.72+168C>G) c.1101C>G (p.Gly367=) n.705C>G n.3535C>G c.1089C>G (p.Gly363=) c.1098C>G (p.Gly366=) n.415C>G c.*968C>G (n.*968C>G) c.471+168C>G (n.471+168C>G) c.438C>G (p.Gly146=) | |
11 | g.1753635G>T | CA472140727 | CTSD | c.1107C>A (p.Gly369=) c.1002C>A (p.Gly334=) c.532C>A c.*273C>A (n.*273C>A) c.1224C>A (p.Gly408=) c.1071+168C>A (n.1071+168C>A) c.1086C>A (p.Gly362=) c.72+168C>A (n.72+168C>A) c.1101C>A (p.Gly367=) n.705C>A n.3535C>A c.1089C>A (p.Gly363=) c.1098C>A (p.Gly366=) n.415C>A c.*968C>A (n.*968C>A) c.471+168C>A (n.471+168C>A) c.438C>A (p.Gly146=) | |
11 | g.1753636C>A | CA379092685 | CTSD | c.1106G>T (p.Gly369Val) c.1001G>T (p.Gly334Val) c.531G>T c.*272G>T (n.*272G>T) c.1223G>T (p.Gly408Val) c.1071+167G>T (n.1071+167G>T) c.1085G>T (p.Gly362Val) c.72+167G>T (n.72+167G>T) c.1100G>T (p.Gly367Val) n.704G>T n.3534G>T c.1088G>T (p.Gly363Val) c.1097G>T (p.Gly366Val) n.414G>T c.*967G>T (n.*967G>T) c.471+167G>T (n.471+167G>T) c.437G>T (p.Gly146Val) | |
11 | g.1753636C>G | CA379092689 | CTSD | c.1106G>C (p.Gly369Ala) c.1001G>C (p.Gly334Ala) c.531G>C c.*272G>C (n.*272G>C) c.1223G>C (p.Gly408Ala) c.1071+167G>C (n.1071+167G>C) c.1085G>C (p.Gly362Ala) c.72+167G>C (n.72+167G>C) c.1100G>C (p.Gly367Ala) n.704G>C n.3534G>C c.1088G>C (p.Gly363Ala) c.1097G>C (p.Gly366Ala) n.414G>C c.*967G>C (n.*967G>C) c.471+167G>C (n.471+167G>C) c.437G>C (p.Gly146Ala) | |
11 | g.1753636C>T | CA379092687 | CTSD | c.1106G>A (p.Gly369Asp) c.1001G>A (p.Gly334Asp) c.531G>A c.*272G>A (n.*272G>A) c.1223G>A (p.Gly408Asp) c.1071+167G>A (n.1071+167G>A) c.1085G>A (p.Gly362Asp) c.72+167G>A (n.72+167G>A) c.1100G>A (p.Gly367Asp) n.704G>A n.3534G>A c.1088G>A (p.Gly363Asp) c.1097G>A (p.Gly366Asp) n.414G>A c.*967G>A (n.*967G>A) c.471+167G>A (n.471+167G>A) c.437G>A (p.Gly146Asp) | |
11 | g.1753637C>A | CA379092691 | CTSD | c.1105G>T (p.Gly369Cys) c.1000G>T (p.Gly334Cys) c.530G>T c.*271G>T (n.*271G>T) c.1222G>T (p.Gly408Cys) c.1071+166G>T (n.1071+166G>T) c.1084G>T (p.Gly362Cys) c.72+166G>T (n.72+166G>T) c.1099G>T (p.Gly367Cys) n.703G>T n.3533G>T c.1087G>T (p.Gly363Cys) c.1096G>T (p.Gly366Cys) n.413G>T c.*966G>T (n.*966G>T) c.471+166G>T (n.471+166G>T) c.436G>T (p.Gly146Cys) | |
11 | g.1753637C= | CA1947825153 | CTSD | c.1105G= (p.Gly369=) c.1000G= (p.Gly334=) c.530G= c.*271G= (n.*271G=) c.1222G= (p.Gly408=) c.1071+166G= (n.1071+166G=) c.1084G= (p.Gly362=) c.72+166G= (n.72+166G=) c.1099G= (p.Gly367=) n.703G= n.3533G= c.1087G= (p.Gly363=) c.1096G= (p.Gly366=) n.413G= c.*966G= (n.*966G=) c.471+166G= (n.471+166G=) c.436G= (p.Gly146=) | |
11 | g.1753637C>G | CA379092692 | CTSD | c.1105G>C (p.Gly369Arg) c.1000G>C (p.Gly334Arg) c.530G>C c.*271G>C (n.*271G>C) c.1222G>C (p.Gly408Arg) c.1071+166G>C (n.1071+166G>C) c.1084G>C (p.Gly362Arg) c.72+166G>C (n.72+166G>C) c.1099G>C (p.Gly367Arg) n.703G>C n.3533G>C c.1087G>C (p.Gly363Arg) c.1096G>C (p.Gly366Arg) n.413G>C c.*966G>C (n.*966G>C) c.471+166G>C (n.471+166G>C) c.436G>C (p.Gly146Arg) | dbSNP gnomAD v4 |
11 | g.1753637C>T | CA379092693 | CTSD | c.1105G>A (p.Gly369Ser) c.1000G>A (p.Gly334Ser) c.530G>A c.*271G>A (n.*271G>A) c.1222G>A (p.Gly408Ser) c.1071+166G>A (n.1071+166G>A) c.1084G>A (p.Gly362Ser) c.72+166G>A (n.72+166G>A) c.1099G>A (p.Gly367Ser) n.703G>A n.3533G>A c.1087G>A (p.Gly363Ser) c.1096G>A (p.Gly366Ser) n.413G>A c.*966G>A (n.*966G>A) c.471+166G>A (n.471+166G>A) c.436G>A (p.Gly146Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.1753638G>A | CA5813893 | CTSD | c.1104C>T (p.Ser368=) c.999C>T (p.Ser333=) c.529C>T c.*270C>T (n.*270C>T) c.1221C>T (p.Ser407=) c.1071+165C>T (n.1071+165C>T) c.1083C>T (p.Ser361=) c.72+165C>T (n.72+165C>T) c.1098C>T (p.Ser366=) n.702C>T n.3532C>T c.1086C>T (p.Ser362=) c.1095C>T (p.Ser365=) n.412C>T c.*965C>T (n.*965C>T) c.471+165C>T (n.471+165C>T) c.435C>T (p.Ser145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1753638G>C | CA379092696 | CTSD | c.1104C>G (p.Ser368Arg) c.999C>G (p.Ser333Arg) c.529C>G c.*270C>G (n.*270C>G) c.1221C>G (p.Ser407Arg) c.1071+165C>G (n.1071+165C>G) c.1083C>G (p.Ser361Arg) c.72+165C>G (n.72+165C>G) c.1098C>G (p.Ser366Arg) n.702C>G n.3532C>G c.1086C>G (p.Ser362Arg) c.1095C>G (p.Ser365Arg) n.412C>G c.*965C>G (n.*965C>G) c.471+165C>G (n.471+165C>G) c.435C>G (p.Ser145Arg) | |
11 | g.1753638G= | CA1947825154 | CTSD | c.1104C= (p.Ser368=) c.999C= (p.Ser333=) c.529C= c.*270C= (n.*270C=) c.1221C= (p.Ser407=) c.1071+165C= (n.1071+165C=) c.1083C= (p.Ser361=) c.72+165C= (n.72+165C=) c.1098C= (p.Ser366=) n.702C= n.3532C= c.1086C= (p.Ser362=) c.1095C= (p.Ser365=) n.412C= c.*965C= (n.*965C=) c.471+165C= (n.471+165C=) c.435C= (p.Ser145=) | |
11 | g.1753638G>T | CA379092698 | CTSD | c.1104C>A (p.Ser368Arg) c.999C>A (p.Ser333Arg) c.529C>A c.*270C>A (n.*270C>A) c.1221C>A (p.Ser407Arg) c.1071+165C>A (n.1071+165C>A) c.1083C>A (p.Ser361Arg) c.72+165C>A (n.72+165C>A) c.1098C>A (p.Ser366Arg) n.702C>A n.3532C>A c.1086C>A (p.Ser362Arg) c.1095C>A (p.Ser365Arg) n.412C>A c.*965C>A (n.*965C>A) c.471+165C>A (n.471+165C>A) c.435C>A (p.Ser145Arg) | |
11 | g.1753639C>A | CA379092699 | CTSD | c.1103G>T (p.Ser368Ile) c.998G>T (p.Ser333Ile) c.528G>T c.*269G>T (n.*269G>T) c.1220G>T (p.Ser407Ile) c.1071+164G>T (n.1071+164G>T) c.1082G>T (p.Ser361Ile) c.72+164G>T (n.72+164G>T) c.1097G>T (p.Ser366Ile) n.701G>T n.3531G>T c.1085G>T (p.Ser362Ile) c.1094G>T (p.Ser365Ile) n.411G>T c.*964G>T (n.*964G>T) c.471+164G>T (n.471+164G>T) c.434G>T (p.Ser145Ile) | |
11 | g.1753639C>G | CA379092701 | CTSD | c.1103G>C (p.Ser368Thr) c.998G>C (p.Ser333Thr) c.528G>C c.*269G>C (n.*269G>C) c.1220G>C (p.Ser407Thr) c.1071+164G>C (n.1071+164G>C) c.1082G>C (p.Ser361Thr) c.72+164G>C (n.72+164G>C) c.1097G>C (p.Ser366Thr) n.701G>C n.3531G>C c.1085G>C (p.Ser362Thr) c.1094G>C (p.Ser365Thr) n.411G>C c.*964G>C (n.*964G>C) c.471+164G>C (n.471+164G>C) c.434G>C (p.Ser145Thr) | |
11 | g.1753639C>T | CA379092703 | CTSD | c.1103G>A (p.Ser368Asn) c.998G>A (p.Ser333Asn) c.528G>A c.*269G>A (n.*269G>A) c.1220G>A (p.Ser407Asn) c.1071+164G>A (n.1071+164G>A) c.1082G>A (p.Ser361Asn) c.72+164G>A (n.72+164G>A) c.1097G>A (p.Ser366Asn) n.701G>A n.3531G>A c.1085G>A (p.Ser362Asn) c.1094G>A (p.Ser365Asn) n.411G>A c.*964G>A (n.*964G>A) c.471+164G>A (n.471+164G>A) c.434G>A (p.Ser145Asn) | |
11 | g.1753640T>A | CA379092705 | CTSD | c.1102A>T (p.Ser368Cys) c.997A>T (p.Ser333Cys) c.527A>T c.*268A>T (n.*268A>T) c.1219A>T (p.Ser407Cys) c.1071+163A>T (n.1071+163A>T) c.1081A>T (p.Ser361Cys) c.72+163A>T (n.72+163A>T) c.1096A>T (p.Ser366Cys) n.700A>T n.3530A>T c.1084A>T (p.Ser362Cys) c.1093A>T (p.Ser365Cys) n.410A>T c.*963A>T (n.*963A>T) c.471+163A>T (n.471+163A>T) c.433A>T (p.Ser145Cys) | |
11 | g.1753640T>C | CA379092707 | CTSD | c.1102A>G (p.Ser368Gly) c.997A>G (p.Ser333Gly) c.527A>G c.*268A>G (n.*268A>G) c.1219A>G (p.Ser407Gly) c.1071+163A>G (n.1071+163A>G) c.1081A>G (p.Ser361Gly) c.72+163A>G (n.72+163A>G) c.1096A>G (p.Ser366Gly) n.700A>G n.3530A>G c.1084A>G (p.Ser362Gly) c.1093A>G (p.Ser365Gly) n.410A>G c.*963A>G (n.*963A>G) c.471+163A>G (n.471+163A>G) c.433A>G (p.Ser145Gly) | |
11 | g.1753640T>G | CA379092710 | CTSD | c.1102A>C (p.Ser368Arg) c.997A>C (p.Ser333Arg) c.527A>C c.*268A>C (n.*268A>C) c.1219A>C (p.Ser407Arg) c.1071+163A>C (n.1071+163A>C) c.1081A>C (p.Ser361Arg) c.72+163A>C (n.72+163A>C) c.1096A>C (p.Ser366Arg) n.700A>C n.3530A>C c.1084A>C (p.Ser362Arg) c.1093A>C (p.Ser365Arg) n.410A>C c.*963A>C (n.*963A>C) c.471+163A>C (n.471+163A>C) c.433A>C (p.Ser145Arg) | |
11 | g.1753641C>A | CA472140760 | CTSD | c.1101G>T (p.Leu367=) c.996G>T (p.Leu332=) c.526G>T c.*267G>T (n.*267G>T) c.1218G>T (p.Leu406=) c.1071+162G>T (n.1071+162G>T) c.1080G>T (p.Leu360=) c.72+162G>T (n.72+162G>T) c.1095G>T (p.Leu365=) n.699G>T n.3529G>T c.1083G>T (p.Leu361=) c.1092G>T (p.Leu364=) n.409G>T c.*962G>T (n.*962G>T) c.471+162G>T (n.471+162G>T) c.432G>T (p.Leu144=) | gnomAD v4 |
11 | g.1753641C= | CA1947825155 | CTSD | c.1101G= (p.Leu367=) c.996G= (p.Leu332=) c.526G= c.*267G= (n.*267G=) c.1218G= (p.Leu406=) c.1071+162G= (n.1071+162G=) c.1080G= (p.Leu360=) c.72+162G= (n.72+162G=) c.1095G= (p.Leu365=) n.699G= n.3529G= c.1083G= (p.Leu361=) c.1092G= (p.Leu364=) n.409G= c.*962G= (n.*962G=) c.471+162G= (n.471+162G=) c.432G= (p.Leu144=) | |
11 | g.1753641C>G | CA472140763 | CTSD | c.1101G>C (p.Leu367=) c.996G>C (p.Leu332=) c.526G>C c.*267G>C (n.*267G>C) c.1218G>C (p.Leu406=) c.1071+162G>C (n.1071+162G>C) c.1080G>C (p.Leu360=) c.72+162G>C (n.72+162G>C) c.1095G>C (p.Leu365=) n.699G>C n.3529G>C c.1083G>C (p.Leu361=) c.1092G>C (p.Leu364=) n.409G>C c.*962G>C (n.*962G>C) c.471+162G>C (n.471+162G>C) c.432G>C (p.Leu144=) | |
11 | g.1753641C>T | CA5813894 | CTSD | c.1101G>A (p.Leu367=) c.996G>A (p.Leu332=) c.526G>A c.*267G>A (n.*267G>A) c.1218G>A (p.Leu406=) c.1071+162G>A (n.1071+162G>A) c.1080G>A (p.Leu360=) c.72+162G>A (n.72+162G>A) c.1095G>A (p.Leu365=) n.699G>A n.3529G>A c.1083G>A (p.Leu361=) c.1092G>A (p.Leu364=) n.409G>A c.*962G>A (n.*962G>A) c.471+162G>A (n.471+162G>A) c.432G>A (p.Leu144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1753644_1753647dup | CA2611927120 | CTSD | c.1098_1101dup (p.Ser368ProfsTer?) c.993_996dup (p.Ser333ProfsTer?) c.523_526dup c.*264_*267dup (n.*264_*267dup) c.1215_1218dup (p.Ser407ProfsTer?) c.1071+159_1071+162dup (n.1071+159_1071+162dup) c.1077_1080dup (p.Ser361ProfsTer?) c.72+159_72+162dup (n.72+159_72+162dup) c.1092_1095dup (p.Ser366ProfsTer?) n.696_699dup n.3526_3529dup c.1080_1083dup (p.Ser362ProfsTer?) c.1089_1092dup (p.Ser365ProfsTer?) n.406_409dup c.*959_*962dup (n.*959_*962dup) c.471+159_471+162dup (n.471+159_471+162dup) c.429_432dup (p.Ser145ProfsTer?) | gnomAD v4 |
11 | g.1753642A>C | CA379092713 | CTSD | c.1100T>G (p.Leu367Arg) c.995T>G (p.Leu332Arg) c.525T>G c.*266T>G (n.*266T>G) c.1217T>G (p.Leu406Arg) c.1071+161T>G (n.1071+161T>G) c.1079T>G (p.Leu360Arg) c.72+161T>G (n.72+161T>G) c.1094T>G (p.Leu365Arg) n.698T>G n.3528T>G c.1082T>G (p.Leu361Arg) c.1091T>G (p.Leu364Arg) n.408T>G c.*961T>G (n.*961T>G) c.471+161T>G (n.471+161T>G) c.431T>G (p.Leu144Arg) | |
11 | g.1753642A>G | CA379092714 | CTSD | c.1100T>C (p.Leu367Pro) c.995T>C (p.Leu332Pro) c.525T>C c.*266T>C (n.*266T>C) c.1217T>C (p.Leu406Pro) c.1071+161T>C (n.1071+161T>C) c.1079T>C (p.Leu360Pro) c.72+161T>C (n.72+161T>C) c.1094T>C (p.Leu365Pro) n.698T>C n.3528T>C c.1082T>C (p.Leu361Pro) c.1091T>C (p.Leu364Pro) n.408T>C c.*961T>C (n.*961T>C) c.471+161T>C (n.471+161T>C) c.431T>C (p.Leu144Pro) | gnomAD v4 |
11 | g.1753642A>T | CA379092715 | CTSD | c.1100T>A (p.Leu367Gln) c.995T>A (p.Leu332Gln) c.525T>A c.*266T>A (n.*266T>A) c.1217T>A (p.Leu406Gln) c.1071+161T>A (n.1071+161T>A) c.1079T>A (p.Leu360Gln) c.72+161T>A (n.72+161T>A) c.1094T>A (p.Leu365Gln) n.698T>A n.3528T>A c.1082T>A (p.Leu361Gln) c.1091T>A (p.Leu364Gln) n.408T>A c.*961T>A (n.*961T>A) c.471+161T>A (n.471+161T>A) c.431T>A (p.Leu144Gln) | |
11 | g.1753643G>A | CA472140770 | CTSD | c.1099C>T (p.Leu367=) c.994C>T (p.Leu332=) c.524C>T c.*265C>T (n.*265C>T) c.1216C>T (p.Leu406=) c.1071+160C>T (n.1071+160C>T) c.1078C>T (p.Leu360=) c.72+160C>T (n.72+160C>T) c.1093C>T (p.Leu365=) n.697C>T n.3527C>T c.1081C>T (p.Leu361=) c.1090C>T (p.Leu364=) n.407C>T c.*960C>T (n.*960C>T) c.471+160C>T (n.471+160C>T) c.430C>T (p.Leu144=) | |
11 | g.1753643G>C | CA379092717 | CTSD | c.1099C>G (p.Leu367Val) c.994C>G (p.Leu332Val) c.524C>G c.*265C>G (n.*265C>G) c.1216C>G (p.Leu406Val) c.1071+160C>G (n.1071+160C>G) c.1078C>G (p.Leu360Val) c.72+160C>G (n.72+160C>G) c.1093C>G (p.Leu365Val) n.697C>G n.3527C>G c.1081C>G (p.Leu361Val) c.1090C>G (p.Leu364Val) n.407C>G c.*960C>G (n.*960C>G) c.471+160C>G (n.471+160C>G) c.430C>G (p.Leu144Val) | |
11 | g.1753643G>T | CA379092718 | CTSD | c.1099C>A (p.Leu367Met) c.994C>A (p.Leu332Met) c.524C>A c.*265C>A (n.*265C>A) c.1216C>A (p.Leu406Met) c.1071+160C>A (n.1071+160C>A) c.1078C>A (p.Leu360Met) c.72+160C>A (n.72+160C>A) c.1093C>A (p.Leu365Met) n.697C>A n.3527C>A c.1081C>A (p.Leu361Met) c.1090C>A (p.Leu364Met) n.407C>A c.*960C>A (n.*960C>A) c.471+160C>A (n.471+160C>A) c.430C>A (p.Leu144Met) | |
11 | g.1753644G>A | CA472140781 | CTSD | c.1098C>T (p.Cys366=) c.993C>T (p.Cys331=) c.523C>T c.*264C>T (n.*264C>T) c.1215C>T (p.Cys405=) c.1071+159C>T (n.1071+159C>T) c.1077C>T (p.Cys359=) c.72+159C>T (n.72+159C>T) c.1092C>T (p.Cys364=) n.696C>T n.3526C>T c.1080C>T (p.Cys360=) c.1089C>T (p.Cys363=) n.406C>T c.*959C>T (n.*959C>T) c.471+159C>T (n.471+159C>T) c.429C>T (p.Cys143=) | |
11 | g.1753644G>C | CA379092721 | CTSD | c.1098C>G (p.Cys366Trp) c.993C>G (p.Cys331Trp) c.523C>G c.*264C>G (n.*264C>G) c.1215C>G (p.Cys405Trp) c.1071+159C>G (n.1071+159C>G) c.1077C>G (p.Cys359Trp) c.72+159C>G (n.72+159C>G) c.1092C>G (p.Cys364Trp) n.696C>G n.3526C>G c.1080C>G (p.Cys360Trp) c.1089C>G (p.Cys363Trp) n.406C>G c.*959C>G (n.*959C>G) c.471+159C>G (n.471+159C>G) c.429C>G (p.Cys143Trp) | |
11 | g.1753644G>T | CA379092722 | CTSD | c.1098C>A (p.Cys366Ter) c.993C>A (p.Cys331Ter) c.523C>A c.*264C>A (n.*264C>A) c.1215C>A (p.Cys405Ter) c.1071+159C>A (n.1071+159C>A) c.1077C>A (p.Cys359Ter) c.72+159C>A (n.72+159C>A) c.1092C>A (p.Cys364Ter) n.696C>A n.3526C>A c.1080C>A (p.Cys360Ter) c.1089C>A (p.Cys363Ter) n.406C>A c.*959C>A (n.*959C>A) c.471+159C>A (n.471+159C>A) c.429C>A (p.Cys143Ter) | |
11 | g.1753645C>A | CA379092723 | CTSD | c.1097G>T (p.Cys366Phe) c.992G>T (p.Cys331Phe) c.522G>T c.*263G>T (n.*263G>T) c.1214G>T (p.Cys405Phe) c.1071+158G>T (n.1071+158G>T) c.1076G>T (p.Cys359Phe) c.72+158G>T (n.72+158G>T) c.1091G>T (p.Cys364Phe) n.695G>T n.3525G>T c.1079G>T (p.Cys360Phe) c.1088G>T (p.Cys363Phe) n.405G>T c.*958G>T (n.*958G>T) c.471+158G>T (n.471+158G>T) c.428G>T (p.Cys143Phe) | |
11 | g.1753645C>G | CA379092725 | CTSD | c.1097G>C (p.Cys366Ser) c.992G>C (p.Cys331Ser) c.522G>C c.*263G>C (n.*263G>C) c.1214G>C (p.Cys405Ser) c.1071+158G>C (n.1071+158G>C) c.1076G>C (p.Cys359Ser) c.72+158G>C (n.72+158G>C) c.1091G>C (p.Cys364Ser) n.695G>C n.3525G>C c.1079G>C (p.Cys360Ser) c.1088G>C (p.Cys363Ser) n.405G>C c.*958G>C (n.*958G>C) c.471+158G>C (n.471+158G>C) c.428G>C (p.Cys143Ser) | |
11 | g.1753645C>T | CA379092727 | CTSD | c.1097G>A (p.Cys366Tyr) c.992G>A (p.Cys331Tyr) c.522G>A c.*263G>A (n.*263G>A) c.1214G>A (p.Cys405Tyr) c.1071+158G>A (n.1071+158G>A) c.1076G>A (p.Cys359Tyr) c.72+158G>A (n.72+158G>A) c.1091G>A (p.Cys364Tyr) n.695G>A n.3525G>A c.1079G>A (p.Cys360Tyr) c.1088G>A (p.Cys363Tyr) n.405G>A c.*958G>A (n.*958G>A) c.471+158G>A (n.471+158G>A) c.428G>A (p.Cys143Tyr) | |
11 | g.1753646A>C | CA379092728 | CTSD | c.1096T>G (p.Cys366Gly) c.991T>G (p.Cys331Gly) c.521T>G c.*262T>G (n.*262T>G) c.1213T>G (p.Cys405Gly) c.1071+157T>G (n.1071+157T>G) c.1075T>G (p.Cys359Gly) c.72+157T>G (n.72+157T>G) c.1090T>G (p.Cys364Gly) n.694T>G n.3524T>G c.1078T>G (p.Cys360Gly) c.1087T>G (p.Cys363Gly) n.404T>G c.*957T>G (n.*957T>G) c.471+157T>G (n.471+157T>G) c.427T>G (p.Cys143Gly) | |
11 | g.1753646A>G | CA379092730 | CTSD | c.1096T>C (p.Cys366Arg) c.991T>C (p.Cys331Arg) c.521T>C c.*262T>C (n.*262T>C) c.1213T>C (p.Cys405Arg) c.1071+157T>C (n.1071+157T>C) c.1075T>C (p.Cys359Arg) c.72+157T>C (n.72+157T>C) c.1090T>C (p.Cys364Arg) n.694T>C n.3524T>C c.1078T>C (p.Cys360Arg) c.1087T>C (p.Cys363Arg) n.404T>C c.*957T>C (n.*957T>C) c.471+157T>C (n.471+157T>C) c.427T>C (p.Cys143Arg) | |
11 | g.1753646A>T | CA379092731 | CTSD | c.1096T>A (p.Cys366Ser) c.991T>A (p.Cys331Ser) c.521T>A c.*262T>A (n.*262T>A) c.1213T>A (p.Cys405Ser) c.1071+157T>A (n.1071+157T>A) c.1075T>A (p.Cys359Ser) c.72+157T>A (n.72+157T>A) c.1090T>A (p.Cys364Ser) n.694T>A n.3524T>A c.1078T>A (p.Cys360Ser) c.1087T>A (p.Cys363Ser) n.404T>A c.*957T>A (n.*957T>A) c.471+157T>A (n.471+157T>A) c.427T>A (p.Cys143Ser) | gnomAD v4 |
11 | g.1753647G>A | CA472140796 | CTSD | c.1095C>T (p.Leu365=) c.990C>T (p.Leu330=) c.520C>T c.*261C>T (n.*261C>T) c.1212C>T (p.Leu404=) c.1071+156C>T (n.1071+156C>T) c.1074C>T (p.Leu358=) c.72+156C>T (n.72+156C>T) c.1089C>T (p.Leu363=) n.693C>T n.3523C>T c.1077C>T (p.Leu359=) c.1086C>T (p.Leu362=) n.403C>T c.*956C>T (n.*956C>T) c.471+156C>T (n.471+156C>T) c.426C>T (p.Leu142=) | |
11 | g.1753647G>C | CA472140799 | CTSD | c.1095C>G (p.Leu365=) c.990C>G (p.Leu330=) c.520C>G c.*261C>G (n.*261C>G) c.1212C>G (p.Leu404=) c.1071+156C>G (n.1071+156C>G) c.1074C>G (p.Leu358=) c.72+156C>G (n.72+156C>G) c.1089C>G (p.Leu363=) n.693C>G n.3523C>G c.1077C>G (p.Leu359=) c.1086C>G (p.Leu362=) n.403C>G c.*956C>G (n.*956C>G) c.471+156C>G (n.471+156C>G) c.426C>G (p.Leu142=) | |
11 | g.1753647G>T | CA472140802 | CTSD | c.1095C>A (p.Leu365=) c.990C>A (p.Leu330=) c.520C>A c.*261C>A (n.*261C>A) c.1212C>A (p.Leu404=) c.1071+156C>A (n.1071+156C>A) c.1074C>A (p.Leu358=) c.72+156C>A (n.72+156C>A) c.1089C>A (p.Leu363=) n.693C>A n.3523C>A c.1077C>A (p.Leu359=) c.1086C>A (p.Leu362=) n.403C>A c.*956C>A (n.*956C>A) c.471+156C>A (n.471+156C>A) c.426C>A (p.Leu142=) | |
11 | g.1753648A>C | CA379092733 | CTSD | c.1094T>G (p.Leu365Arg) c.989T>G (p.Leu330Arg) c.519T>G c.*260T>G (n.*260T>G) c.1211T>G (p.Leu404Arg) c.1071+155T>G (n.1071+155T>G) c.1073T>G (p.Leu358Arg) c.72+155T>G (n.72+155T>G) c.1088T>G (p.Leu363Arg) n.692T>G n.3522T>G c.1076T>G (p.Leu359Arg) c.1085T>G (p.Leu362Arg) n.402T>G c.*955T>G (n.*955T>G) c.471+155T>G (n.471+155T>G) c.425T>G (p.Leu142Arg) | |
11 | g.1753648A>G | CA379092736 | CTSD | c.1094T>C (p.Leu365Pro) c.989T>C (p.Leu330Pro) c.519T>C c.*260T>C (n.*260T>C) c.1211T>C (p.Leu404Pro) c.1071+155T>C (n.1071+155T>C) c.1073T>C (p.Leu358Pro) c.72+155T>C (n.72+155T>C) c.1088T>C (p.Leu363Pro) n.692T>C n.3522T>C c.1076T>C (p.Leu359Pro) c.1085T>C (p.Leu362Pro) n.402T>C c.*955T>C (n.*955T>C) c.471+155T>C (n.471+155T>C) c.425T>C (p.Leu142Pro) | gnomAD v4 |
11 | g.1753648A>T | CA379092734 | CTSD | c.1094T>A (p.Leu365His) c.989T>A (p.Leu330His) c.519T>A c.*260T>A (n.*260T>A) c.1211T>A (p.Leu404His) c.1071+155T>A (n.1071+155T>A) c.1073T>A (p.Leu358His) c.72+155T>A (n.72+155T>A) c.1088T>A (p.Leu363His) n.692T>A n.3522T>A c.1076T>A (p.Leu359His) c.1085T>A (p.Leu362His) n.402T>A c.*955T>A (n.*955T>A) c.471+155T>A (n.471+155T>A) c.425T>A (p.Leu142His) | |
11 | g.1753649G>A | CA379092737 | CTSD | c.1093C>T (p.Leu365Phe) c.988C>T (p.Leu330Phe) c.518C>T c.*259C>T (n.*259C>T) c.1210C>T (p.Leu404Phe) c.1071+154C>T (n.1071+154C>T) c.1072C>T (p.Leu358Phe) c.72+154C>T (n.72+154C>T) c.1087C>T (p.Leu363Phe) n.691C>T n.3521C>T c.1075C>T (p.Leu359Phe) c.1084C>T (p.Leu362Phe) n.401C>T c.*954C>T (n.*954C>T) c.471+154C>T (n.471+154C>T) c.424C>T (p.Leu142Phe) | dbSNP |
11 | g.1753649G>C | CA379092740 | CTSD | c.1093C>G (p.Leu365Val) c.988C>G (p.Leu330Val) c.518C>G c.*259C>G (n.*259C>G) c.1210C>G (p.Leu404Val) c.1071+154C>G (n.1071+154C>G) c.1072C>G (p.Leu358Val) c.72+154C>G (n.72+154C>G) c.1087C>G (p.Leu363Val) n.691C>G n.3521C>G c.1075C>G (p.Leu359Val) c.1084C>G (p.Leu362Val) n.401C>G c.*954C>G (n.*954C>G) c.471+154C>G (n.471+154C>G) c.424C>G (p.Leu142Val) | |
11 | g.1753649G= | CA1947825156 | CTSD | c.1093C= (p.Leu365=) c.988C= (p.Leu330=) c.518C= c.*259C= (n.*259C=) c.1210C= (p.Leu404=) c.1071+154C= (n.1071+154C=) c.1072C= (p.Leu358=) c.72+154C= (n.72+154C=) c.1087C= (p.Leu363=) n.691C= n.3521C= c.1075C= (p.Leu359=) c.1084C= (p.Leu362=) n.401C= c.*954C= (n.*954C=) c.471+154C= (n.471+154C=) c.424C= (p.Leu142=) | |
11 | g.1753649G>T | CA379092738 | CTSD | c.1093C>A (p.Leu365Ile) c.988C>A (p.Leu330Ile) c.518C>A c.*259C>A (n.*259C>A) c.1210C>A (p.Leu404Ile) c.1071+154C>A (n.1071+154C>A) c.1072C>A (p.Leu358Ile) c.72+154C>A (n.72+154C>A) c.1087C>A (p.Leu363Ile) n.691C>A n.3521C>A c.1075C>A (p.Leu359Ile) c.1084C>A (p.Leu362Ile) n.401C>A c.*954C>A (n.*954C>A) c.471+154C>A (n.471+154C>A) c.424C>A (p.Leu142Ile) | |
11 | g.1753650G>A | CA472140825 | CTSD | c.1092C>T (p.Thr364=) c.987C>T (p.Thr329=) c.517C>T c.*258C>T (n.*258C>T) c.1209C>T (p.Thr403=) c.1071+153C>T (n.1071+153C>T) c.1071C>T (p.Thr357=) c.72+153C>T (n.72+153C>T) c.1086C>T (p.Thr362=) n.690C>T n.3520C>T c.1074C>T (p.Thr358=) c.1083C>T (p.Thr361=) n.400C>T c.*953C>T (n.*953C>T) c.471+153C>T (n.471+153C>T) c.423C>T (p.Thr141=) | gnomAD v4 |
11 | g.1753650G>C | CA472140827 | CTSD | c.1092C>G (p.Thr364=) c.987C>G (p.Thr329=) c.517C>G c.*258C>G (n.*258C>G) c.1209C>G (p.Thr403=) c.1071+153C>G (n.1071+153C>G) c.1071C>G (p.Thr357=) c.72+153C>G (n.72+153C>G) c.1086C>G (p.Thr362=) n.690C>G n.3520C>G c.1074C>G (p.Thr358=) c.1083C>G (p.Thr361=) n.400C>G c.*953C>G (n.*953C>G) c.471+153C>G (n.471+153C>G) c.423C>G (p.Thr141=) | |
11 | g.1753650G>T | CA472140823 | CTSD | c.1092C>A (p.Thr364=) c.987C>A (p.Thr329=) c.517C>A c.*258C>A (n.*258C>A) c.1209C>A (p.Thr403=) c.1071+153C>A (n.1071+153C>A) c.1071C>A (p.Thr357=) c.72+153C>A (n.72+153C>A) c.1086C>A (p.Thr362=) n.690C>A n.3520C>A c.1074C>A (p.Thr358=) c.1083C>A (p.Thr361=) n.400C>A c.*953C>A (n.*953C>A) c.471+153C>A (n.471+153C>A) c.423C>A (p.Thr141=) |