UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355423_23355432del | CA2573149137 | SACS | c.1185_1194del (p.Cys395TrpfsTer13) n.1323_1332del c.1176_1185del (p.Cys392TrpfsTer13) n.3542_3551del c.-1066_-1057del (n.-1066_-1057del) c.57_66del (p.Cys19TrpfsTer13) c.883_892del c.744_753del (p.Cys248TrpfsTer13) c.1209_1218del (p.Cys403TrpfsTer13) | ClinVar dbSNP |
| 13 | g.23355430_23355434delinsCACCA | CA2078658677 | SACS | c.1178_1182delinsTGGTG (p.Leu393=) n.1316_1320delinsTGGTG c.1169_1173delinsTGGTG (p.Leu390=) n.3535_3539delinsTGGTG c.-1073_-1069delinsTGGTG (n.-1073_-1069delinsTGGTG) c.50_54delinsTGGTG (p.Leu17=) c.876_880delinsTGGTG c.737_741delinsTGGTG (p.Leu246=) c.1202_1206delinsTGGTG (p.Leu401=) | |
| 13 | g.23355431_23355432delinsAC | CA2078658680 | SACS | c.1180_1181delinsGT (p.Val394=) n.1318_1319delinsGT c.1171_1172delinsGT (p.Val391=) n.3537_3538delinsGT c.-1071_-1070delinsGT (n.-1071_-1070delinsGT) c.52_53delinsGT (p.Val18=) c.878_879delinsGT c.739_740delinsGT (p.Val247=) c.1204_1205delinsGT (p.Val402=) | |
| 13 | g.23355436_23355439del | CA919226957 | SACS | c.1178_1181del (p.Leu393CysfsTer17) n.1316_1319del c.1169_1172del (p.Leu390CysfsTer17) n.3535_3538del c.-1073_-1070del (n.-1073_-1070del) c.50_53del (p.Leu17CysfsTer17) c.876_879del c.737_740del (p.Leu246CysfsTer17) c.1202_1205del (p.Leu401CysfsTer17) | dbSNP gnomAD v4 |
| 13 | g.23355432C>A | CA387549919 | SACS | c.1180G>T (p.Val394Leu) n.1318G>T c.1171G>T (p.Val391Leu) n.3537G>T c.-1071G>T (n.-1071G>T) c.52G>T (p.Val18Leu) c.878G>T c.739G>T (p.Val247Leu) c.1204G>T (p.Val402Leu) | |
| 13 | g.23355432C>G | CA387549923 | SACS | c.1180G>C (p.Val394Leu) n.1318G>C c.1171G>C (p.Val391Leu) n.3537G>C c.-1071G>C (n.-1071G>C) c.52G>C (p.Val18Leu) c.878G>C c.739G>C (p.Val247Leu) c.1204G>C (p.Val402Leu) | |
| 13 | g.23355432C>T | CA387549921 | SACS | c.1180G>A (p.Val394Met) n.1318G>A c.1171G>A (p.Val391Met) n.3537G>A c.-1071G>A (n.-1071G>A) c.52G>A (p.Val18Met) c.878G>A c.739G>A (p.Val247Met) c.1204G>A (p.Val402Met) | |
| 13 | g.23355433del | CA2078658682 | SACS | c.1180del (p.Val394CysfsTer17) n.1318del c.1171del (p.Val391CysfsTer17) n.3537del c.-1071del (n.-1071del) c.52del (p.Val18CysfsTer17) c.878del c.739del (p.Val247CysfsTer17) c.1204del (p.Val402CysfsTer17) | dbSNP |
| 13 | g.23355433C>A | CA387549925 | SACS | c.1179G>T (p.Leu393Phe) n.1317G>T c.1170G>T (p.Leu390Phe) n.3536G>T c.-1072G>T (n.-1072G>T) c.51G>T (p.Leu17Phe) c.877G>T c.738G>T (p.Leu246Phe) c.1203G>T (p.Leu401Phe) | |
| 13 | g.23355433C= | CA2078658684 | SACS | c.1179G= (p.Leu393=) n.1317G= c.1170G= (p.Leu390=) n.3536G= c.-1072G= (n.-1072G=) c.51G= (p.Leu17=) c.877G= c.738G= (p.Leu246=) c.1203G= (p.Leu401=) | |
| 13 | g.23355433C>G | CA387549927 | SACS | c.1179G>C (p.Leu393Phe) n.1317G>C c.1170G>C (p.Leu390Phe) n.3536G>C c.-1072G>C (n.-1072G>C) c.51G>C (p.Leu17Phe) c.877G>C c.738G>C (p.Leu246Phe) c.1203G>C (p.Leu401Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23355433C>T | CA483164592 | SACS | c.1179G>A (p.Leu393=) n.1317G>A c.1170G>A (p.Leu390=) n.3536G>A c.-1072G>A (n.-1072G>A) c.51G>A (p.Leu17=) c.877G>A c.738G>A (p.Leu246=) c.1203G>A (p.Leu401=) | gnomAD v4 |
| 13 | g.23355434A>C | CA387549930 | SACS | c.1178T>G (p.Leu393Trp) n.1316T>G c.1169T>G (p.Leu390Trp) n.3535T>G c.-1073T>G (n.-1073T>G) c.50T>G (p.Leu17Trp) c.876T>G c.737T>G (p.Leu246Trp) c.1202T>G (p.Leu401Trp) | |
| 13 | g.23355434A>G | CA387549931 | SACS | c.1178T>C (p.Leu393Ser) n.1316T>C c.1169T>C (p.Leu390Ser) n.3535T>C c.-1073T>C (n.-1073T>C) c.50T>C (p.Leu17Ser) c.876T>C c.737T>C (p.Leu246Ser) c.1202T>C (p.Leu401Ser) | |
| 13 | g.23355434A>T | CA387549933 | SACS | c.1178T>A (p.Leu393Ter) n.1316T>A c.1169T>A (p.Leu390Ter) n.3535T>A c.-1073T>A (n.-1073T>A) c.50T>A (p.Leu17Ter) c.876T>A c.737T>A (p.Leu246Ter) c.1202T>A (p.Leu401Ter) | ClinVar |
| 13 | g.23355435A>C | CA387549935 | SACS | c.1177T>G (p.Leu393Val) n.1315T>G c.1168T>G (p.Leu390Val) n.3534T>G c.-1074T>G (n.-1074T>G) c.49T>G (p.Leu17Val) c.875T>G c.736T>G (p.Leu246Val) c.1201T>G (p.Leu401Val) | |
| 13 | g.23355435A>G | CA483164596 | SACS | c.1177T>C (p.Leu393=) n.1315T>C c.1168T>C (p.Leu390=) n.3534T>C c.-1074T>C (n.-1074T>C) c.49T>C (p.Leu17=) c.875T>C c.736T>C (p.Leu246=) c.1201T>C (p.Leu401=) | COSMIC COSMIC |
| 13 | g.23355435A>T | CA387549937 | SACS | c.1177T>A (p.Leu393Met) n.1315T>A c.1168T>A (p.Leu390Met) n.3534T>A c.-1074T>A (n.-1074T>A) c.49T>A (p.Leu17Met) c.875T>A c.736T>A (p.Leu246Met) c.1201T>A (p.Leu401Met) | |
| 13 | g.23355436C>A | CA387549940 | SACS | c.1176G>T (p.Trp392Cys) n.1314G>T c.1167G>T (p.Trp389Cys) n.3533G>T c.-1075G>T (n.-1075G>T) c.48G>T (p.Trp16Cys) c.874G>T c.735G>T (p.Trp245Cys) c.1200G>T (p.Trp400Cys) | |
| 13 | g.23355436C= | CA2078658686 | SACS | c.1176G= (p.Trp392=) n.1314G= c.1167G= (p.Trp389=) n.3533G= c.-1075G= (n.-1075G=) c.48G= (p.Trp16=) c.874G= c.735G= (p.Trp245=) c.1200G= (p.Trp400=) | |
| 13 | g.23355436C>G | CA387549941 | SACS | c.1176G>C (p.Trp392Cys) n.1314G>C c.1167G>C (p.Trp389Cys) n.3533G>C c.-1075G>C (n.-1075G>C) c.48G>C (p.Trp16Cys) c.874G>C c.735G>C (p.Trp245Cys) c.1200G>C (p.Trp400Cys) | |
| 13 | g.23355436C>T | CA387549942 | SACS | c.1176G>A (p.Trp392Ter) n.1314G>A c.1167G>A (p.Trp389Ter) n.3533G>A c.-1075G>A (n.-1075G>A) c.48G>A (p.Trp16Ter) c.874G>A c.735G>A (p.Trp245Ter) c.1200G>A (p.Trp400Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23355437C>A | CA387549945 | SACS | c.1175G>T (p.Trp392Leu) n.1313G>T c.1166G>T (p.Trp389Leu) n.3532G>T c.-1076G>T (n.-1076G>T) c.47G>T (p.Trp16Leu) c.873G>T c.734G>T (p.Trp245Leu) c.1199G>T (p.Trp400Leu) | |
| 13 | g.23355437C>G | CA387549948 | SACS | c.1175G>C (p.Trp392Ser) n.1313G>C c.1166G>C (p.Trp389Ser) n.3532G>C c.-1076G>C (n.-1076G>C) c.47G>C (p.Trp16Ser) c.873G>C c.734G>C (p.Trp245Ser) c.1199G>C (p.Trp400Ser) | |
| 13 | g.23355437C>T | CA387549947 | SACS | c.1175G>A (p.Trp392Ter) n.1313G>A c.1166G>A (p.Trp389Ter) n.3532G>A c.-1076G>A (n.-1076G>A) c.47G>A (p.Trp16Ter) c.873G>A c.734G>A (p.Trp245Ter) c.1199G>A (p.Trp400Ter) | |
| 13 | g.23355438A>C | CA387549951 | SACS | c.1174T>G (p.Trp392Gly) n.1312T>G c.1165T>G (p.Trp389Gly) n.3531T>G c.-1077T>G (n.-1077T>G) c.46T>G (p.Trp16Gly) c.872T>G c.733T>G (p.Trp245Gly) c.1198T>G (p.Trp400Gly) | gnomAD v4 |
| 13 | g.23355438A>G | CA387549952 | SACS | c.1174T>C (p.Trp392Arg) n.1312T>C c.1165T>C (p.Trp389Arg) n.3531T>C c.-1077T>C (n.-1077T>C) c.46T>C (p.Trp16Arg) c.872T>C c.733T>C (p.Trp245Arg) c.1198T>C (p.Trp400Arg) | |
| 13 | g.23355438A>T | CA387549954 | SACS | c.1174T>A (p.Trp392Arg) n.1312T>A c.1165T>A (p.Trp389Arg) n.3531T>A c.-1077T>A (n.-1077T>A) c.46T>A (p.Trp16Arg) c.872T>A c.733T>A (p.Trp245Arg) c.1198T>A (p.Trp400Arg) | |
| 13 | g.23355439A= | CA2078658691 | SACS | c.1173T= (p.Ser391=) n.1311T= c.1164T= (p.Ser388=) n.3530T= c.-1078T= (n.-1078T=) c.45T= (p.Ser15=) c.871T= c.732T= (p.Ser244=) c.1197T= (p.Ser399=) | |
| 13 | g.23355439A>C | CA483164600 | SACS | c.1173T>G (p.Ser391=) n.1311T>G c.1164T>G (p.Ser388=) n.3530T>G c.-1078T>G (n.-1078T>G) c.45T>G (p.Ser15=) c.871T>G c.732T>G (p.Ser244=) c.1197T>G (p.Ser399=) | ClinVar |
| 13 | g.23355439A>G | CA6911960 | SACS | c.1173T>C (p.Ser391=) n.1311T>C c.1164T>C (p.Ser388=) n.3530T>C c.-1078T>C (n.-1078T>C) c.45T>C (p.Ser15=) c.871T>C c.732T>C (p.Ser244=) c.1197T>C (p.Ser399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23355439A>T | CA483164603 | SACS | c.1173T>A (p.Ser391=) n.1311T>A c.1164T>A (p.Ser388=) n.3530T>A c.-1078T>A (n.-1078T>A) c.45T>A (p.Ser15=) c.871T>A c.732T>A (p.Ser244=) c.1197T>A (p.Ser399=) | ClinVar dbSNP |
| 13 | g.23355440G>A | CA387549958 | SACS | c.1172C>T (p.Ser391Phe) n.1310C>T c.1163C>T (p.Ser388Phe) n.3529C>T c.-1079C>T (n.-1079C>T) c.44C>T (p.Ser15Phe) c.870C>T c.731C>T (p.Ser244Phe) c.1196C>T (p.Ser399Phe) | gnomAD v4 |
| 13 | g.23355440G>C | CA387549962 | SACS | c.1172C>G (p.Ser391Cys) n.1310C>G c.1163C>G (p.Ser388Cys) n.3529C>G c.-1079C>G (n.-1079C>G) c.44C>G (p.Ser15Cys) c.870C>G c.731C>G (p.Ser244Cys) c.1196C>G (p.Ser399Cys) | gnomAD v4 |
| 13 | g.23355440G= | CA2078658694 | SACS | c.1172C= (p.Ser391=) n.1310C= c.1163C= (p.Ser388=) n.3529C= c.-1079C= (n.-1079C=) c.44C= (p.Ser15=) c.870C= c.731C= (p.Ser244=) c.1196C= (p.Ser399=) | |
| 13 | g.23355440G>T | CA387549960 | SACS | c.1172C>A (p.Ser391Tyr) n.1310C>A c.1163C>A (p.Ser388Tyr) n.3529C>A c.-1079C>A (n.-1079C>A) c.44C>A (p.Ser15Tyr) c.870C>A c.731C>A (p.Ser244Tyr) c.1196C>A (p.Ser399Tyr) | dbSNP gnomAD v4 |
| 13 | g.23355441A>C | CA387549964 | SACS | c.1171T>G (p.Ser391Ala) n.1309T>G c.1162T>G (p.Ser388Ala) n.3528T>G c.-1080T>G (n.-1080T>G) c.43T>G (p.Ser15Ala) c.869T>G c.730T>G (p.Ser244Ala) c.1195T>G (p.Ser399Ala) | |
| 13 | g.23355441A>G | CA387549966 | SACS | c.1171T>C (p.Ser391Pro) n.1309T>C c.1162T>C (p.Ser388Pro) n.3528T>C c.-1080T>C (n.-1080T>C) c.43T>C (p.Ser15Pro) c.869T>C c.730T>C (p.Ser244Pro) c.1195T>C (p.Ser399Pro) | |
| 13 | g.23355441A>T | CA387549968 | SACS | c.1171T>A (p.Ser391Thr) n.1309T>A c.1162T>A (p.Ser388Thr) n.3528T>A c.-1080T>A (n.-1080T>A) c.43T>A (p.Ser15Thr) c.869T>A c.730T>A (p.Ser244Thr) c.1195T>A (p.Ser399Thr) | |
| 13 | g.23355442T>A | CA483164605 | SACS | c.1170A>T (p.Thr390=) n.1308A>T c.1161A>T (p.Thr387=) n.3527A>T c.-1081A>T (n.-1081A>T) c.42A>T (p.Thr14=) c.868A>T c.729A>T (p.Thr243=) c.1194A>T (p.Thr398=) | |
| 13 | g.23355442T>C | CA483164606 | SACS | c.1170A>G (p.Thr390=) n.1308A>G c.1161A>G (p.Thr387=) n.3527A>G c.-1081A>G (n.-1081A>G) c.42A>G (p.Thr14=) c.868A>G c.729A>G (p.Thr243=) c.1194A>G (p.Thr398=) | |
| 13 | g.23355442T>G | CA483164608 | SACS | c.1170A>C (p.Thr390=) n.1308A>C c.1161A>C (p.Thr387=) n.3527A>C c.-1081A>C (n.-1081A>C) c.42A>C (p.Thr14=) c.868A>C c.729A>C (p.Thr243=) c.1194A>C (p.Thr398=) | ClinVar |
| 13 | g.23355443G>A | CA387549970 | SACS | c.1169C>T (p.Thr390Ile) n.1307C>T c.1160C>T (p.Thr387Ile) n.3526C>T c.-1082C>T (n.-1082C>T) c.41C>T (p.Thr14Ile) c.867C>T c.728C>T (p.Thr243Ile) c.1193C>T (p.Thr398Ile) | gnomAD v4 |
| 13 | g.23355443G>C | CA387549971 | SACS | c.1169C>G (p.Thr390Arg) n.1307C>G c.1160C>G (p.Thr387Arg) n.3526C>G c.-1082C>G (n.-1082C>G) c.41C>G (p.Thr14Arg) c.867C>G c.728C>G (p.Thr243Arg) c.1193C>G (p.Thr398Arg) | |
| 13 | g.23355443G>T | CA387549972 | SACS | c.1169C>A (p.Thr390Lys) n.1307C>A c.1160C>A (p.Thr387Lys) n.3526C>A c.-1082C>A (n.-1082C>A) c.41C>A (p.Thr14Lys) c.867C>A c.728C>A (p.Thr243Lys) c.1193C>A (p.Thr398Lys) | |
| 13 | g.23355444T>A | CA387549975 | SACS | c.1168A>T (p.Thr390Ser) n.1306A>T c.1159A>T (p.Thr387Ser) n.3525A>T c.-1083A>T (n.-1083A>T) c.40A>T (p.Thr14Ser) c.866A>T c.727A>T (p.Thr243Ser) c.1192A>T (p.Thr398Ser) | |
| 13 | g.23355444T>C | CA387549977 | SACS | c.1168A>G (p.Thr390Ala) n.1306A>G c.1159A>G (p.Thr387Ala) n.3525A>G c.-1083A>G (n.-1083A>G) c.40A>G (p.Thr14Ala) c.866A>G c.727A>G (p.Thr243Ala) c.1192A>G (p.Thr398Ala) | dbSNP |
| 13 | g.23355444T>G | CA387549978 | SACS | c.1168A>C (p.Thr390Pro) n.1306A>C c.1159A>C (p.Thr387Pro) n.3525A>C c.-1083A>C (n.-1083A>C) c.40A>C (p.Thr14Pro) c.866A>C c.727A>C (p.Thr243Pro) c.1192A>C (p.Thr398Pro) | |
| 13 | g.23355444T= | CA2078658697 | SACS | c.1168A= (p.Thr390=) n.1306A= c.1159A= (p.Thr387=) n.3525A= c.-1083A= (n.-1083A=) c.40A= (p.Thr14=) c.866A= c.727A= (p.Thr243=) c.1192A= (p.Thr398=) | |
| 13 | g.23355445T>A | CA387549980 | SACS | c.1167A>T (p.Lys389Asn) n.1305A>T c.1158A>T (p.Lys386Asn) n.3524A>T c.-1084A>T (n.-1084A>T) c.39A>T (p.Lys13Asn) c.865A>T c.726A>T (p.Lys242Asn) c.1191A>T (p.Lys397Asn) |