| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1753546C>A | CA379092389 | CTSD | c.1196G>T (p.Arg399Leu) c.1091G>T (p.Arg364Leu) c.621G>T c.*362G>T (n.*362G>T) c.1313G>T (p.Arg438Leu) c.1071+257G>T (n.1071+257G>T) c.1175G>T (p.Arg392Leu) c.72+257G>T (n.72+257G>T) c.1190G>T (p.Arg397Leu) n.794G>T n.3624G>T c.1178G>T (p.Arg393Leu) c.1187G>T (p.Arg396Leu) n.504G>T c.*1057G>T (n.*1057G>T) c.471+257G>T (n.471+257G>T) c.527G>T (p.Arg176Leu) | |
| 11 | g.1753546C= | CA1947825107 | CTSD | c.1196G= (p.Arg399=) c.1091G= (p.Arg364=) c.621G= c.*362G= (n.*362G=) c.1313G= (p.Arg438=) c.1071+257G= (n.1071+257G=) c.1175G= (p.Arg392=) c.72+257G= (n.72+257G=) c.1190G= (p.Arg397=) n.794G= n.3624G= c.1178G= (p.Arg393=) c.1187G= (p.Arg396=) n.504G= c.*1057G= (n.*1057G=) c.471+257G= (n.471+257G=) c.527G= (p.Arg176=) | |
| 11 | g.1753546C>G | CA379092388 | CTSD | c.1196G>C (p.Arg399Pro) c.1091G>C (p.Arg364Pro) c.621G>C c.*362G>C (n.*362G>C) c.1313G>C (p.Arg438Pro) c.1071+257G>C (n.1071+257G>C) c.1175G>C (p.Arg392Pro) c.72+257G>C (n.72+257G>C) c.1190G>C (p.Arg397Pro) n.794G>C n.3624G>C c.1178G>C (p.Arg393Pro) c.1187G>C (p.Arg396Pro) n.504G>C c.*1057G>C (n.*1057G>C) c.471+257G>C (n.471+257G>C) c.527G>C (p.Arg176Pro) | |
| 11 | g.1753546C>T | CA276038 | CTSD | c.1196G>A (p.Arg399His) c.1091G>A (p.Arg364His) c.621G>A c.*362G>A (n.*362G>A) c.1313G>A (p.Arg438His) c.1071+257G>A (n.1071+257G>A) c.1175G>A (p.Arg392His) c.72+257G>A (n.72+257G>A) c.1190G>A (p.Arg397His) n.794G>A n.3624G>A c.1178G>A (p.Arg393His) c.1187G>A (p.Arg396His) n.504G>A c.*1057G>A (n.*1057G>A) c.471+257G>A (n.471+257G>A) c.527G>A (p.Arg176His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753547G>A | CA5813877 | CTSD | c.1195C>T (p.Arg399Cys) c.1090C>T (p.Arg364Cys) c.620C>T c.*361C>T (n.*361C>T) c.1312C>T (p.Arg438Cys) c.1071+256C>T (n.1071+256C>T) c.1174C>T (p.Arg392Cys) c.72+256C>T (n.72+256C>T) c.1189C>T (p.Arg397Cys) n.793C>T n.3623C>T c.1177C>T (p.Arg393Cys) c.1186C>T (p.Arg396Cys) n.503C>T c.*1056C>T (n.*1056C>T) c.471+256C>T (n.471+256C>T) c.526C>T (p.Arg176Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753547G>C | CA379092390 | CTSD | c.1195C>G (p.Arg399Gly) c.1090C>G (p.Arg364Gly) c.620C>G c.*361C>G (n.*361C>G) c.1312C>G (p.Arg438Gly) c.1071+256C>G (n.1071+256C>G) c.1174C>G (p.Arg392Gly) c.72+256C>G (n.72+256C>G) c.1189C>G (p.Arg397Gly) n.793C>G n.3623C>G c.1177C>G (p.Arg393Gly) c.1186C>G (p.Arg396Gly) n.503C>G c.*1056C>G (n.*1056C>G) c.471+256C>G (n.471+256C>G) c.526C>G (p.Arg176Gly) | |
| 11 | g.1753547G= | CA1947825108 | CTSD | c.1195C= (p.Arg399=) c.1090C= (p.Arg364=) c.620C= c.*361C= (n.*361C=) c.1312C= (p.Arg438=) c.1071+256C= (n.1071+256C=) c.1174C= (p.Arg392=) c.72+256C= (n.72+256C=) c.1189C= (p.Arg397=) n.793C= n.3623C= c.1177C= (p.Arg393=) c.1186C= (p.Arg396=) n.503C= c.*1056C= (n.*1056C=) c.471+256C= (n.471+256C=) c.526C= (p.Arg176=) | |
| 11 | g.1753547G>T | CA379092391 | CTSD | c.1195C>A (p.Arg399Ser) c.1090C>A (p.Arg364Ser) c.620C>A c.*361C>A (n.*361C>A) c.1312C>A (p.Arg438Ser) c.1071+256C>A (n.1071+256C>A) c.1174C>A (p.Arg392Ser) c.72+256C>A (n.72+256C>A) c.1189C>A (p.Arg397Ser) n.793C>A n.3623C>A c.1177C>A (p.Arg393Ser) c.1186C>A (p.Arg396Ser) n.503C>A c.*1056C>A (n.*1056C>A) c.471+256C>A (n.471+256C>A) c.526C>A (p.Arg176Ser) | |
| 11 | g.1753548G>A | CA472139717 | CTSD | c.1194C>T (p.Asp398=) c.1089C>T (p.Asp363=) c.619C>T c.*360C>T (n.*360C>T) c.1311C>T (p.Asp437=) c.1071+255C>T (n.1071+255C>T) c.1173C>T (p.Asp391=) c.72+255C>T (n.72+255C>T) c.1188C>T (p.Asp396=) n.792C>T n.3622C>T c.1176C>T (p.Asp392=) c.1185C>T (p.Asp395=) n.502C>T c.*1055C>T (n.*1055C>T) c.471+255C>T (n.471+255C>T) c.525C>T (p.Asp175=) | ClinVar |
| 11 | g.1753548G>C | CA379092392 | CTSD | c.1194C>G (p.Asp398Glu) c.1089C>G (p.Asp363Glu) c.619C>G c.*360C>G (n.*360C>G) c.1311C>G (p.Asp437Glu) c.1071+255C>G (n.1071+255C>G) c.1173C>G (p.Asp391Glu) c.72+255C>G (n.72+255C>G) c.1188C>G (p.Asp396Glu) n.792C>G n.3622C>G c.1176C>G (p.Asp392Glu) c.1185C>G (p.Asp395Glu) n.502C>G c.*1055C>G (n.*1055C>G) c.471+255C>G (n.471+255C>G) c.525C>G (p.Asp175Glu) | |
| 11 | g.1753548G>T | CA379092393 | CTSD | c.1194C>A (p.Asp398Glu) c.1089C>A (p.Asp363Glu) c.619C>A c.*360C>A (n.*360C>A) c.1311C>A (p.Asp437Glu) c.1071+255C>A (n.1071+255C>A) c.1173C>A (p.Asp391Glu) c.72+255C>A (n.72+255C>A) c.1188C>A (p.Asp396Glu) n.792C>A n.3622C>A c.1176C>A (p.Asp392Glu) c.1185C>A (p.Asp395Glu) n.502C>A c.*1055C>A (n.*1055C>A) c.471+255C>A (n.471+255C>A) c.525C>A (p.Asp175Glu) | |
| 11 | g.1753549T>A | CA379092394 | CTSD | c.1193A>T (p.Asp398Val) c.1088A>T (p.Asp363Val) c.618A>T c.*359A>T (n.*359A>T) c.1310A>T (p.Asp437Val) c.1071+254A>T (n.1071+254A>T) c.1172A>T (p.Asp391Val) c.72+254A>T (n.72+254A>T) c.1187A>T (p.Asp396Val) n.791A>T n.3621A>T c.1175A>T (p.Asp392Val) c.1184A>T (p.Asp395Val) n.501A>T c.*1054A>T (n.*1054A>T) c.471+254A>T (n.471+254A>T) c.524A>T (p.Asp175Val) | |
| 11 | g.1753549T>C | CA379092396 | CTSD | c.1193A>G (p.Asp398Gly) c.1088A>G (p.Asp363Gly) c.618A>G c.*359A>G (n.*359A>G) c.1310A>G (p.Asp437Gly) c.1071+254A>G (n.1071+254A>G) c.1172A>G (p.Asp391Gly) c.72+254A>G (n.72+254A>G) c.1187A>G (p.Asp396Gly) n.791A>G n.3621A>G c.1175A>G (p.Asp392Gly) c.1184A>G (p.Asp395Gly) n.501A>G c.*1054A>G (n.*1054A>G) c.471+254A>G (n.471+254A>G) c.524A>G (p.Asp175Gly) | dbSNP |
| 11 | g.1753549T>G | CA379092395 | CTSD | c.1193A>C (p.Asp398Ala) c.1088A>C (p.Asp363Ala) c.618A>C c.*359A>C (n.*359A>C) c.1310A>C (p.Asp437Ala) c.1071+254A>C (n.1071+254A>C) c.1172A>C (p.Asp391Ala) c.72+254A>C (n.72+254A>C) c.1187A>C (p.Asp396Ala) n.791A>C n.3621A>C c.1175A>C (p.Asp392Ala) c.1184A>C (p.Asp395Ala) n.501A>C c.*1054A>C (n.*1054A>C) c.471+254A>C (n.471+254A>C) c.524A>C (p.Asp175Ala) | |
| 11 | g.1753549T= | CA1947825109 | CTSD | c.1193A= (p.Asp398=) c.1088A= (p.Asp363=) c.618A= c.*359A= (n.*359A=) c.1310A= (p.Asp437=) c.1071+254A= (n.1071+254A=) c.1172A= (p.Asp391=) c.72+254A= (n.72+254A=) c.1187A= (p.Asp396=) n.791A= n.3621A= c.1175A= (p.Asp392=) c.1184A= (p.Asp395=) n.501A= c.*1054A= (n.*1054A=) c.471+254A= (n.471+254A=) c.524A= (p.Asp175=) | |
| 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) |