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 |
|---|---|---|---|---|---|
| 15 | g.91002052G>A | CA393886406 | VPS33B | c.1403C>T (p.Ala468Val) c.1322C>T (p.Ala441Val) c.*1098C>T (n.*1098C>T) c.1130C>T (p.Ala377Val) c.1325C>T (p.Ala442Val) c.1079C>T (p.Ala360Val) c.1058C>T (p.Ala353Val) n.1901C>T | gnomAD v4 |
| 15 | g.91002052G>C | CA393886407 | VPS33B | c.1403C>G (p.Ala468Gly) c.1322C>G (p.Ala441Gly) c.*1098C>G (n.*1098C>G) c.1130C>G (p.Ala377Gly) c.1325C>G (p.Ala442Gly) c.1079C>G (p.Ala360Gly) c.1058C>G (p.Ala353Gly) n.1901C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.91002052G= | CA2195398963 | VPS33B | c.1403C= (p.Ala468=) c.1322C= (p.Ala441=) c.*1098C= (n.*1098C=) c.1130C= (p.Ala377=) c.1325C= (p.Ala442=) c.1079C= (p.Ala360=) c.1058C= (p.Ala353=) n.1901C= | |
| 15 | g.91002052G>T | CA393886408 | VPS33B | c.1403C>A (p.Ala468Glu) c.1322C>A (p.Ala441Glu) c.*1098C>A (n.*1098C>A) c.1130C>A (p.Ala377Glu) c.1325C>A (p.Ala442Glu) c.1079C>A (p.Ala360Glu) c.1058C>A (p.Ala353Glu) n.1901C>A | |
| 15 | g.91002053C>A | CA393886409 | VPS33B | c.1402G>T (p.Ala468Ser) c.1321G>T (p.Ala441Ser) c.*1097G>T (n.*1097G>T) c.1129G>T (p.Ala377Ser) c.1324G>T (p.Ala442Ser) c.1078G>T (p.Ala360Ser) c.1057G>T (p.Ala353Ser) n.1900G>T | |
| 15 | g.91002053C>G | CA393886410 | VPS33B | c.1402G>C (p.Ala468Pro) c.1321G>C (p.Ala441Pro) c.*1097G>C (n.*1097G>C) c.1129G>C (p.Ala377Pro) c.1324G>C (p.Ala442Pro) c.1078G>C (p.Ala360Pro) c.1057G>C (p.Ala353Pro) n.1900G>C | |
| 15 | g.91002053C>T | CA393886411 | VPS33B | c.1402G>A (p.Ala468Thr) c.1321G>A (p.Ala441Thr) c.*1097G>A (n.*1097G>A) c.1129G>A (p.Ala377Thr) c.1324G>A (p.Ala442Thr) c.1078G>A (p.Ala360Thr) c.1057G>A (p.Ala353Thr) n.1900G>A | gnomAD v4 |
| 15 | g.91002054A>C | CA492204121 | VPS33B | c.1401T>G (p.Ala467=) c.1320T>G (p.Ala440=) c.*1096T>G (n.*1096T>G) c.1128T>G (p.Ala376=) c.1323T>G (p.Ala441=) c.1077T>G (p.Ala359=) c.1056T>G (p.Ala352=) n.1899T>G | |
| 15 | g.91002054A>G | CA492204125 | VPS33B | c.1401T>C (p.Ala467=) c.1320T>C (p.Ala440=) c.*1096T>C (n.*1096T>C) c.1128T>C (p.Ala376=) c.1323T>C (p.Ala441=) c.1077T>C (p.Ala359=) c.1056T>C (p.Ala352=) n.1899T>C | gnomAD v4 |
| 15 | g.91002054A>T | CA492204123 | VPS33B | c.1401T>A (p.Ala467=) c.1320T>A (p.Ala440=) c.*1096T>A (n.*1096T>A) c.1128T>A (p.Ala376=) c.1323T>A (p.Ala441=) c.1077T>A (p.Ala359=) c.1056T>A (p.Ala352=) n.1899T>A | |
| 15 | g.91002055G>A | CA393886412 | VPS33B | c.1400C>T (p.Ala467Val) c.1319C>T (p.Ala440Val) c.*1095C>T (n.*1095C>T) c.1127C>T (p.Ala376Val) c.1322C>T (p.Ala441Val) c.1076C>T (p.Ala359Val) c.1055C>T (p.Ala352Val) n.1898C>T | |
| 15 | g.91002055G>C | CA393886414 | VPS33B | c.1400C>G (p.Ala467Gly) c.1319C>G (p.Ala440Gly) c.*1095C>G (n.*1095C>G) c.1127C>G (p.Ala376Gly) c.1322C>G (p.Ala441Gly) c.1076C>G (p.Ala359Gly) c.1055C>G (p.Ala352Gly) n.1898C>G | |
| 15 | g.91002055G>T | CA393886413 | VPS33B | c.1400C>A (p.Ala467Asp) c.1319C>A (p.Ala440Asp) c.*1095C>A (n.*1095C>A) c.1127C>A (p.Ala376Asp) c.1322C>A (p.Ala441Asp) c.1076C>A (p.Ala359Asp) c.1055C>A (p.Ala352Asp) n.1898C>A | |
| 15 | g.91002056C>A | CA393886415 | VPS33B | c.1399G>T (p.Ala467Ser) c.1318G>T (p.Ala440Ser) c.*1094G>T (n.*1094G>T) c.1126G>T (p.Ala376Ser) c.1321G>T (p.Ala441Ser) c.1075G>T (p.Ala359Ser) c.1054G>T (p.Ala352Ser) n.1897G>T | |
| 15 | g.91002056C= | CA2195398964 | VPS33B | c.1399G= (p.Ala467=) c.1318G= (p.Ala440=) c.*1094G= (n.*1094G=) c.1126G= (p.Ala376=) c.1321G= (p.Ala441=) c.1075G= (p.Ala359=) c.1054G= (p.Ala352=) n.1897G= | |
| 15 | g.91002056C>G | CA393886416 | VPS33B | c.1399G>C (p.Ala467Pro) c.1318G>C (p.Ala440Pro) c.*1094G>C (n.*1094G>C) c.1126G>C (p.Ala376Pro) c.1321G>C (p.Ala441Pro) c.1075G>C (p.Ala359Pro) c.1054G>C (p.Ala352Pro) n.1897G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002056C>T | CA393886417 | VPS33B | c.1399G>A (p.Ala467Thr) c.1318G>A (p.Ala440Thr) c.*1094G>A (n.*1094G>A) c.1126G>A (p.Ala376Thr) c.1321G>A (p.Ala441Thr) c.1075G>A (p.Ala359Thr) c.1054G>A (p.Ala352Thr) n.1897G>A | gnomAD v4 |
| 15 | g.91002057C>A | CA393886418 | VPS33B | c.1398G>T (p.Lys466Asn) c.1317G>T (p.Lys439Asn) c.*1093G>T (n.*1093G>T) c.1125G>T (p.Lys375Asn) c.1320G>T (p.Lys440Asn) c.1074G>T (p.Lys358Asn) c.1053G>T (p.Lys351Asn) n.1896G>T | |
| 15 | g.91002057C>G | CA393886419 | VPS33B | c.1398G>C (p.Lys466Asn) c.1317G>C (p.Lys439Asn) c.*1093G>C (n.*1093G>C) c.1125G>C (p.Lys375Asn) c.1320G>C (p.Lys440Asn) c.1074G>C (p.Lys358Asn) c.1053G>C (p.Lys351Asn) n.1896G>C | gnomAD v4 |
| 15 | g.91002057C>T | CA492204134 | VPS33B | c.1398G>A (p.Lys466=) c.1317G>A (p.Lys439=) c.*1093G>A (n.*1093G>A) c.1125G>A (p.Lys375=) c.1320G>A (p.Lys440=) c.1074G>A (p.Lys358=) c.1053G>A (p.Lys351=) n.1896G>A | |
| 15 | g.91002058T>A | CA393886420 | VPS33B | c.1397A>T (p.Lys466Met) c.1316A>T (p.Lys439Met) c.*1092A>T (n.*1092A>T) c.1124A>T (p.Lys375Met) c.1319A>T (p.Lys440Met) c.1073A>T (p.Lys358Met) c.1052A>T (p.Lys351Met) n.1895A>T | |
| 15 | g.91002058T>C | CA393886421 | VPS33B | c.1397A>G (p.Lys466Arg) c.1316A>G (p.Lys439Arg) c.*1092A>G (n.*1092A>G) c.1124A>G (p.Lys375Arg) c.1319A>G (p.Lys440Arg) c.1073A>G (p.Lys358Arg) c.1052A>G (p.Lys351Arg) n.1895A>G | |
| 15 | g.91002058T>G | CA393886422 | VPS33B | c.1397A>C (p.Lys466Thr) c.1316A>C (p.Lys439Thr) c.*1092A>C (n.*1092A>C) c.1124A>C (p.Lys375Thr) c.1319A>C (p.Lys440Thr) c.1073A>C (p.Lys358Thr) c.1052A>C (p.Lys351Thr) n.1895A>C | gnomAD v4 |
| 15 | g.91002059T>A | CA393886423 | VPS33B | c.1396A>T (p.Lys466Ter) c.1315A>T (p.Lys439Ter) c.*1091A>T (n.*1091A>T) c.1123A>T (p.Lys375Ter) c.1318A>T (p.Lys440Ter) c.1072A>T (p.Lys358Ter) c.1051A>T (p.Lys351Ter) n.1894A>T | |
| 15 | g.91002059T>C | CA393886424 | VPS33B | c.1396A>G (p.Lys466Glu) c.1315A>G (p.Lys439Glu) c.*1091A>G (n.*1091A>G) c.1123A>G (p.Lys375Glu) c.1318A>G (p.Lys440Glu) c.1072A>G (p.Lys358Glu) c.1051A>G (p.Lys351Glu) n.1894A>G | gnomAD v4 |
| 15 | g.91002059T>G | CA393886425 | VPS33B | c.1396A>C (p.Lys466Gln) c.1315A>C (p.Lys439Gln) c.*1091A>C (n.*1091A>C) c.1123A>C (p.Lys375Gln) c.1318A>C (p.Lys440Gln) c.1072A>C (p.Lys358Gln) c.1051A>C (p.Lys351Gln) n.1894A>C | gnomAD v4 |
| 15 | g.91002060G>A | CA492204142 | VPS33B | c.1395C>T (p.Asp465=) c.1314C>T (p.Asp438=) c.*1090C>T (n.*1090C>T) c.1122C>T (p.Asp374=) c.1317C>T (p.Asp439=) c.1071C>T (p.Asp357=) c.1050C>T (p.Asp350=) n.1893C>T | |
| 15 | g.91002060G>C | CA393886426 | VPS33B | c.1395C>G (p.Asp465Glu) c.1314C>G (p.Asp438Glu) c.*1090C>G (n.*1090C>G) c.1122C>G (p.Asp374Glu) c.1317C>G (p.Asp439Glu) c.1071C>G (p.Asp357Glu) c.1050C>G (p.Asp350Glu) n.1893C>G | |
| 15 | g.91002060G>T | CA393886427 | VPS33B | c.1395C>A (p.Asp465Glu) c.1314C>A (p.Asp438Glu) c.*1090C>A (n.*1090C>A) c.1122C>A (p.Asp374Glu) c.1317C>A (p.Asp439Glu) c.1071C>A (p.Asp357Glu) c.1050C>A (p.Asp350Glu) n.1893C>A | |
| 15 | g.91002061T>A | CA393886428 | VPS33B | c.1394A>T (p.Asp465Val) c.1313A>T (p.Asp438Val) c.*1089A>T (n.*1089A>T) c.1121A>T (p.Asp374Val) c.1316A>T (p.Asp439Val) c.1070A>T (p.Asp357Val) c.1049A>T (p.Asp350Val) n.1892A>T | |
| 15 | g.91002061T>C | CA393886429 | VPS33B | c.1394A>G (p.Asp465Gly) c.1313A>G (p.Asp438Gly) c.*1089A>G (n.*1089A>G) c.1121A>G (p.Asp374Gly) c.1316A>G (p.Asp439Gly) c.1070A>G (p.Asp357Gly) c.1049A>G (p.Asp350Gly) n.1892A>G | |
| 15 | g.91002061T>G | CA393886430 | VPS33B | c.1394A>C (p.Asp465Ala) c.1313A>C (p.Asp438Ala) c.*1089A>C (n.*1089A>C) c.1121A>C (p.Asp374Ala) c.1316A>C (p.Asp439Ala) c.1070A>C (p.Asp357Ala) c.1049A>C (p.Asp350Ala) n.1892A>C | |
| 15 | g.91002062C>A | CA393886431 | VPS33B | c.1393G>T (p.Asp465Tyr) c.1312G>T (p.Asp438Tyr) c.*1088G>T (n.*1088G>T) c.1120G>T (p.Asp374Tyr) c.1315G>T (p.Asp439Tyr) c.1069G>T (p.Asp357Tyr) c.1048G>T (p.Asp350Tyr) n.1891G>T | gnomAD v4 |
| 15 | g.91002062C= | CA2195398965 | VPS33B | c.1393G= (p.Asp465=) c.1312G= (p.Asp438=) c.*1088G= (n.*1088G=) c.1120G= (p.Asp374=) c.1315G= (p.Asp439=) c.1069G= (p.Asp357=) c.1048G= (p.Asp350=) n.1891G= | |
| 15 | g.91002062C>G | CA393886432 | VPS33B | c.1393G>C (p.Asp465His) c.1312G>C (p.Asp438His) c.*1088G>C (n.*1088G>C) c.1120G>C (p.Asp374His) c.1315G>C (p.Asp439His) c.1069G>C (p.Asp357His) c.1048G>C (p.Asp350His) n.1891G>C | |
| 15 | g.91002062C>T | CA7744666 | VPS33B | c.1393G>A (p.Asp465Asn) c.1312G>A (p.Asp438Asn) c.*1088G>A (n.*1088G>A) c.1120G>A (p.Asp374Asn) c.1315G>A (p.Asp439Asn) c.1069G>A (p.Asp357Asn) c.1048G>A (p.Asp350Asn) n.1891G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002063G>A | CA7744667 | VPS33B | c.1392C>T (p.Thr464=) c.1311C>T (p.Thr437=) c.*1087C>T (n.*1087C>T) c.1119C>T (p.Thr373=) c.1314C>T (p.Thr438=) c.1068C>T (p.Thr356=) c.1047C>T (p.Thr349=) n.1890C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91002063G>C | CA492204152 | VPS33B | c.1392C>G (p.Thr464=) c.1311C>G (p.Thr437=) c.*1087C>G (n.*1087C>G) c.1119C>G (p.Thr373=) c.1314C>G (p.Thr438=) c.1068C>G (p.Thr356=) c.1047C>G (p.Thr349=) n.1890C>G | |
| 15 | g.91002063G= | CA2195398966 | VPS33B | c.1392C= (p.Thr464=) c.1311C= (p.Thr437=) c.*1087C= (n.*1087C=) c.1119C= (p.Thr373=) c.1314C= (p.Thr438=) c.1068C= (p.Thr356=) c.1047C= (p.Thr349=) n.1890C= | |
| 15 | g.91002063G>T | CA492204153 | VPS33B | c.1392C>A (p.Thr464=) c.1311C>A (p.Thr437=) c.*1087C>A (n.*1087C>A) c.1119C>A (p.Thr373=) c.1314C>A (p.Thr438=) c.1068C>A (p.Thr356=) c.1047C>A (p.Thr349=) n.1890C>A | |
| 15 | g.91002064G>A | CA393886433 | VPS33B | c.1391C>T (p.Thr464Ile) c.1310C>T (p.Thr437Ile) c.*1086C>T (n.*1086C>T) c.1118C>T (p.Thr373Ile) c.1313C>T (p.Thr438Ile) c.1067C>T (p.Thr356Ile) c.1046C>T (p.Thr349Ile) n.1889C>T | |
| 15 | g.91002064G>C | CA393886434 | VPS33B | c.1391C>G (p.Thr464Ser) c.1310C>G (p.Thr437Ser) c.*1086C>G (n.*1086C>G) c.1118C>G (p.Thr373Ser) c.1313C>G (p.Thr438Ser) c.1067C>G (p.Thr356Ser) c.1046C>G (p.Thr349Ser) n.1889C>G | |
| 15 | g.91002064G>T | CA393886435 | VPS33B | c.1391C>A (p.Thr464Asn) c.1310C>A (p.Thr437Asn) c.*1086C>A (n.*1086C>A) c.1118C>A (p.Thr373Asn) c.1313C>A (p.Thr438Asn) c.1067C>A (p.Thr356Asn) c.1046C>A (p.Thr349Asn) n.1889C>A | |
| 15 | g.91002065T>A | CA393886436 | VPS33B | c.1390A>T (p.Thr464Ser) c.1309A>T (p.Thr437Ser) c.*1085A>T (n.*1085A>T) c.1117A>T (p.Thr373Ser) c.1312A>T (p.Thr438Ser) c.1066A>T (p.Thr356Ser) c.1045A>T (p.Thr349Ser) n.1888A>T | |
| 15 | g.91002065T>C | CA393886437 | VPS33B | c.1390A>G (p.Thr464Ala) c.1309A>G (p.Thr437Ala) c.*1085A>G (n.*1085A>G) c.1117A>G (p.Thr373Ala) c.1312A>G (p.Thr438Ala) c.1066A>G (p.Thr356Ala) c.1045A>G (p.Thr349Ala) n.1888A>G | |
| 15 | g.91002065T>G | CA393886438 | VPS33B | c.1390A>C (p.Thr464Pro) c.1309A>C (p.Thr437Pro) c.*1085A>C (n.*1085A>C) c.1117A>C (p.Thr373Pro) c.1312A>C (p.Thr438Pro) c.1066A>C (p.Thr356Pro) c.1045A>C (p.Thr349Pro) n.1888A>C | |
| 15 | g.91002066C>A | CA492204160 | VPS33B | c.1389G>T (p.Val463=) c.1308G>T (p.Val436=) c.*1084G>T (n.*1084G>T) c.1116G>T (p.Val372=) c.1311G>T (p.Val437=) c.1065G>T (p.Val355=) c.1044G>T (p.Val348=) n.1887G>T | gnomAD v4 |
| 15 | g.91002066C>G | CA492204162 | VPS33B | c.1389G>C (p.Val463=) c.1308G>C (p.Val436=) c.*1084G>C (n.*1084G>C) c.1116G>C (p.Val372=) c.1311G>C (p.Val437=) c.1065G>C (p.Val355=) c.1044G>C (p.Val348=) n.1887G>C | |
| 15 | g.91002066C>T | CA492204163 | VPS33B | c.1389G>A (p.Val463=) c.1308G>A (p.Val436=) c.*1084G>A (n.*1084G>A) c.1116G>A (p.Val372=) c.1311G>A (p.Val437=) c.1065G>A (p.Val355=) c.1044G>A (p.Val348=) n.1887G>A | |
| 15 | g.91002067A>C | CA393886441 | VPS33B | c.1388T>G (p.Val463Gly) c.1307T>G (p.Val436Gly) c.*1083T>G (n.*1083T>G) c.1115T>G (p.Val372Gly) c.1310T>G (p.Val437Gly) c.1064T>G (p.Val355Gly) c.1043T>G (p.Val348Gly) n.1886T>G |