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 |
|---|---|---|---|---|---|
| 5 | g.112821894_112829116del | CA2499217432 | APC | c.1313-2_1409-5835del c.1313-2_1797+144del n.1369-2_1943del c.*1319-2_*1749+144del c.1259-2_1689+144del c.1313-2_1743+144del c.*635-2_*1065+144del c.1343-2_1773+144del c.1238-2_1668+144del c.1229-2_1659+144del c.1136-2_1620+144del c.1136-2_1566+144del c.1040-2_1470+144del c.1010-2_1440+144del c.935-2_1365+144del c.833-2_1263+144del c.464-2_894+144del | ClinVar |
| 5 | g.112821953_112821957del | CA658760611 | APC | c.1370_1374del (p.Ser457Ter) n.1426_1430del c.*1376_*1380del (n.*1376_*1380del) c.1316_1320del (p.Ser439Ter) c.58_62del c.5_9del (p.Ser2Ter) c.*692_*696del (n.*692_*696del) c.1400_1404del (p.Ser467Ter) c.1295_1299del (p.Ser432Ter) c.1286_1290del (p.Ser429Ter) c.1193_1197del (p.Ser398Ter) c.1097_1101del (p.Ser366Ter) c.1067_1071del (p.Ser356Ter) c.992_996del (p.Ser331Ter) c.890_894del (p.Ser297Ter) c.521_525del (p.Ser174Ter) | |
| 5 | g.112821953del | CA2580072600 | APC | c.1370del (p.Ser457TyrfsTer10) n.1426del c.*1376del (n.*1376del) c.1316del (p.Ser439TyrfsTer10) c.58del c.5del (p.Ser2TyrfsTer10) c.*692del (n.*692del) c.1400del (p.Ser467TyrfsTer10) c.1295del (p.Ser432TyrfsTer10) c.1286del (p.Ser429TyrfsTer10) c.1193del (p.Ser398TyrfsTer10) c.1097del (p.Ser366TyrfsTer10) c.1067del (p.Ser356TyrfsTer10) c.992del (p.Ser331TyrfsTer10) c.890del (p.Ser297TyrfsTer10) c.521del (p.Ser174TyrfsTer10) | ClinVar |
| 5 | g.112821953C>A | CA16024303 | APC | c.1370C>A (p.Ser457Ter) n.1426C>A c.*1376C>A (n.*1376C>A) c.1316C>A (p.Ser439Ter) c.58C>A c.5C>A (p.Ser2Ter) c.*692C>A (n.*692C>A) c.1400C>A (p.Ser467Ter) c.1295C>A (p.Ser432Ter) c.1286C>A (p.Ser429Ter) c.1193C>A (p.Ser398Ter) c.1097C>A (p.Ser366Ter) c.1067C>A (p.Ser356Ter) c.992C>A (p.Ser331Ter) c.890C>A (p.Ser297Ter) c.521C>A (p.Ser174Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112821953C= | CA1573497185 | APC | c.1370C= (p.Ser457=) n.1426C= c.*1376C= (n.*1376C=) c.1316C= (p.Ser439=) c.58C= c.5C= (p.Ser2=) c.*692C= (n.*692C=) c.1400C= (p.Ser467=) c.1295C= (p.Ser432=) c.1286C= (p.Ser429=) c.1193C= (p.Ser398=) c.1097C= (p.Ser366=) c.1067C= (p.Ser356=) c.992C= (p.Ser331=) c.890C= (p.Ser297=) c.521C= (p.Ser174=) | |
| 5 | g.112821953C>G | CA16024304 | APC | c.1370C>G (p.Ser457Ter) n.1426C>G c.*1376C>G (n.*1376C>G) c.1316C>G (p.Ser439Ter) c.58C>G c.5C>G (p.Ser2Ter) c.*692C>G (n.*692C>G) c.1400C>G (p.Ser467Ter) c.1295C>G (p.Ser432Ter) c.1286C>G (p.Ser429Ter) c.1193C>G (p.Ser398Ter) c.1097C>G (p.Ser366Ter) c.1067C>G (p.Ser356Ter) c.992C>G (p.Ser331Ter) c.890C>G (p.Ser297Ter) c.521C>G (p.Ser174Ter) | ClinVar dbSNP |
| 5 | g.112821953C>T | CA16024305 | APC | c.1370C>T (p.Ser457Leu) n.1426C>T c.*1376C>T (n.*1376C>T) c.1316C>T (p.Ser439Leu) c.58C>T c.5C>T (p.Ser2Leu) c.*692C>T (n.*692C>T) c.1400C>T (p.Ser467Leu) c.1295C>T (p.Ser432Leu) c.1286C>T (p.Ser429Leu) c.1193C>T (p.Ser398Leu) c.1097C>T (p.Ser366Leu) c.1067C>T (p.Ser356Leu) c.992C>T (p.Ser331Leu) c.890C>T (p.Ser297Leu) c.521C>T (p.Ser174Leu) | dbSNP |
| 5 | g.112821953_112821954insG | CA2695202731 | APC | c.1370_1371insG (p.Phe458IlefsTer2) n.1426_1427insG c.*1376_*1377insG (n.*1376_*1377insG) c.1316_1317insG (p.Phe440IlefsTer2) c.58_59insG c.5_6insG (p.Phe3IlefsTer2) c.*692_*693insG (n.*692_*693insG) c.1400_1401insG (p.Phe468IlefsTer2) c.1295_1296insG (p.Phe433IlefsTer2) c.1286_1287insG (p.Phe430IlefsTer2) c.1193_1194insG (p.Phe399IlefsTer2) c.1097_1098insG (p.Phe367IlefsTer2) c.1067_1068insG (p.Phe357IlefsTer2) c.992_993insG (p.Phe332IlefsTer2) c.890_891insG (p.Phe298IlefsTer2) c.521_522insG (p.Phe175IlefsTer2) | |
| 5 | g.112821954A= | CA1573497189 | APC | c.1371A= (p.Ser457=) n.1427A= c.*1377A= (n.*1377A=) c.1317A= (p.Ser439=) c.59A= c.6A= (p.Ser2=) c.*693A= (n.*693A=) c.1401A= (p.Ser467=) c.1296A= (p.Ser432=) c.1287A= (p.Ser429=) c.1194A= (p.Ser398=) c.1098A= (p.Ser366=) c.1068A= (p.Ser356=) c.993A= (p.Ser331=) c.891A= (p.Ser297=) c.522A= (p.Ser174=) | |
| 5 | g.112821954A>C | CA445755870 | APC | c.1371A>C (p.Ser457=) n.1427A>C c.*1377A>C (n.*1377A>C) c.1317A>C (p.Ser439=) c.59A>C c.6A>C (p.Ser2=) c.*693A>C (n.*693A>C) c.1401A>C (p.Ser467=) c.1296A>C (p.Ser432=) c.1287A>C (p.Ser429=) c.1194A>C (p.Ser398=) c.1098A>C (p.Ser366=) c.1068A>C (p.Ser356=) c.993A>C (p.Ser331=) c.891A>C (p.Ser297=) c.522A>C (p.Ser174=) | |
| 5 | g.112821954A>G | CA445755868 | APC | c.1371A>G (p.Ser457=) n.1427A>G c.*1377A>G (n.*1377A>G) c.1317A>G (p.Ser439=) c.59A>G c.6A>G (p.Ser2=) c.*693A>G (n.*693A>G) c.1401A>G (p.Ser467=) c.1296A>G (p.Ser432=) c.1287A>G (p.Ser429=) c.1194A>G (p.Ser398=) c.1098A>G (p.Ser366=) c.1068A>G (p.Ser356=) c.993A>G (p.Ser331=) c.891A>G (p.Ser297=) c.522A>G (p.Ser174=) | ClinVar dbSNP |
| 5 | g.112821954A>T | CA445755869 | APC | c.1371A>T (p.Ser457=) n.1427A>T c.*1377A>T (n.*1377A>T) c.1317A>T (p.Ser439=) c.59A>T c.6A>T (p.Ser2=) c.*693A>T (n.*693A>T) c.1401A>T (p.Ser467=) c.1296A>T (p.Ser432=) c.1287A>T (p.Ser429=) c.1194A>T (p.Ser398=) c.1098A>T (p.Ser366=) c.1068A>T (p.Ser356=) c.993A>T (p.Ser331=) c.891A>T (p.Ser297=) c.522A>T (p.Ser174=) | dbSNP |
| 5 | g.112821955T>A | CA16024306 | APC | c.1372T>A (p.Phe458Ile) n.1428T>A c.*1378T>A (n.*1378T>A) c.1318T>A (p.Phe440Ile) c.60T>A c.7T>A (p.Phe3Ile) c.*694T>A (n.*694T>A) c.1402T>A (p.Phe468Ile) c.1297T>A (p.Phe433Ile) c.1288T>A (p.Phe430Ile) c.1195T>A (p.Phe399Ile) c.1099T>A (p.Phe367Ile) c.1069T>A (p.Phe357Ile) c.994T>A (p.Phe332Ile) c.892T>A (p.Phe298Ile) c.523T>A (p.Phe175Ile) | |
| 5 | g.112821955T>C | CA16024307 | APC | c.1372T>C (p.Phe458Leu) n.1428T>C c.*1378T>C (n.*1378T>C) c.1318T>C (p.Phe440Leu) c.60T>C c.7T>C (p.Phe3Leu) c.*694T>C (n.*694T>C) c.1402T>C (p.Phe468Leu) c.1297T>C (p.Phe433Leu) c.1288T>C (p.Phe430Leu) c.1195T>C (p.Phe399Leu) c.1099T>C (p.Phe367Leu) c.1069T>C (p.Phe357Leu) c.994T>C (p.Phe332Leu) c.892T>C (p.Phe298Leu) c.523T>C (p.Phe175Leu) | |
| 5 | g.112821955T>G | CA16024308 | APC | c.1372T>G (p.Phe458Val) n.1428T>G c.*1378T>G (n.*1378T>G) c.1318T>G (p.Phe440Val) c.60T>G c.7T>G (p.Phe3Val) c.*694T>G (n.*694T>G) c.1402T>G (p.Phe468Val) c.1297T>G (p.Phe433Val) c.1288T>G (p.Phe430Val) c.1195T>G (p.Phe399Val) c.1099T>G (p.Phe367Val) c.1069T>G (p.Phe357Val) c.994T>G (p.Phe332Val) c.892T>G (p.Phe298Val) c.523T>G (p.Phe175Val) | |
| 5 | g.112821956T>A | CA16024309 | APC | c.1373T>A (p.Phe458Tyr) n.1429T>A c.*1379T>A (n.*1379T>A) c.1319T>A (p.Phe440Tyr) c.61T>A c.8T>A (p.Phe3Tyr) c.*695T>A (n.*695T>A) c.1403T>A (p.Phe468Tyr) c.1298T>A (p.Phe433Tyr) c.1289T>A (p.Phe430Tyr) c.1196T>A (p.Phe399Tyr) c.1100T>A (p.Phe367Tyr) c.1070T>A (p.Phe357Tyr) c.995T>A (p.Phe332Tyr) c.893T>A (p.Phe298Tyr) c.524T>A (p.Phe175Tyr) | dbSNP |
| 5 | g.112821956T>C | CA16024310 | APC | c.1373T>C (p.Phe458Ser) n.1429T>C c.*1379T>C (n.*1379T>C) c.1319T>C (p.Phe440Ser) c.61T>C c.8T>C (p.Phe3Ser) c.*695T>C (n.*695T>C) c.1403T>C (p.Phe468Ser) c.1298T>C (p.Phe433Ser) c.1289T>C (p.Phe430Ser) c.1196T>C (p.Phe399Ser) c.1100T>C (p.Phe367Ser) c.1070T>C (p.Phe357Ser) c.995T>C (p.Phe332Ser) c.893T>C (p.Phe298Ser) c.524T>C (p.Phe175Ser) | |
| 5 | g.112821956T>G | CA16024311 | APC | c.1373T>G (p.Phe458Cys) n.1429T>G c.*1379T>G (n.*1379T>G) c.1319T>G (p.Phe440Cys) c.61T>G c.8T>G (p.Phe3Cys) c.*695T>G (n.*695T>G) c.1403T>G (p.Phe468Cys) c.1298T>G (p.Phe433Cys) c.1289T>G (p.Phe430Cys) c.1196T>G (p.Phe399Cys) c.1100T>G (p.Phe367Cys) c.1070T>G (p.Phe357Cys) c.995T>G (p.Phe332Cys) c.893T>G (p.Phe298Cys) c.524T>G (p.Phe175Cys) | |
| 5 | g.112821957T>A | CA16024312 | APC | c.1374T>A (p.Phe458Leu) n.1430T>A c.*1380T>A (n.*1380T>A) c.1320T>A (p.Phe440Leu) c.62T>A c.9T>A (p.Phe3Leu) c.*696T>A (n.*696T>A) c.1404T>A (p.Phe468Leu) c.1299T>A (p.Phe433Leu) c.1290T>A (p.Phe430Leu) c.1197T>A (p.Phe399Leu) c.1101T>A (p.Phe367Leu) c.1071T>A (p.Phe357Leu) c.996T>A (p.Phe332Leu) c.894T>A (p.Phe298Leu) c.525T>A (p.Phe175Leu) | |
| 5 | g.112821957T>C | CA445755871 | APC | c.1374T>C (p.Phe458=) n.1430T>C c.*1380T>C (n.*1380T>C) c.1320T>C (p.Phe440=) c.62T>C c.9T>C (p.Phe3=) c.*696T>C (n.*696T>C) c.1404T>C (p.Phe468=) c.1299T>C (p.Phe433=) c.1290T>C (p.Phe430=) c.1197T>C (p.Phe399=) c.1101T>C (p.Phe367=) c.1071T>C (p.Phe357=) c.996T>C (p.Phe332=) c.894T>C (p.Phe298=) c.525T>C (p.Phe175=) | ClinVar dbSNP |
| 5 | g.112821957T>G | CA16024313 | APC | c.1374T>G (p.Phe458Leu) n.1430T>G c.*1380T>G (n.*1380T>G) c.1320T>G (p.Phe440Leu) c.62T>G c.9T>G (p.Phe3Leu) c.*696T>G (n.*696T>G) c.1404T>G (p.Phe468Leu) c.1299T>G (p.Phe433Leu) c.1290T>G (p.Phe430Leu) c.1197T>G (p.Phe399Leu) c.1101T>G (p.Phe367Leu) c.1071T>G (p.Phe357Leu) c.996T>G (p.Phe332Leu) c.894T>G (p.Phe298Leu) c.525T>G (p.Phe175Leu) | |
| 5 | g.112821958G>A | CA16024314 | APC | c.1375G>A (p.Asp459Asn) n.1431G>A c.*1381G>A (n.*1381G>A) c.1321G>A (p.Asp441Asn) c.63G>A c.10G>A (p.Asp4Asn) c.*697G>A (n.*697G>A) c.1405G>A (p.Asp469Asn) c.1300G>A (p.Asp434Asn) c.1291G>A (p.Asp431Asn) c.1198G>A (p.Asp400Asn) c.1102G>A (p.Asp368Asn) c.1072G>A (p.Asp358Asn) c.997G>A (p.Asp333Asn) c.895G>A (p.Asp299Asn) c.526G>A (p.Asp176Asn) | dbSNP |
| 5 | g.112821958G>C | CA16024315 | APC | c.1375G>C (p.Asp459His) n.1431G>C c.*1381G>C (n.*1381G>C) c.1321G>C (p.Asp441His) c.63G>C c.10G>C (p.Asp4His) c.*697G>C (n.*697G>C) c.1405G>C (p.Asp469His) c.1300G>C (p.Asp434His) c.1291G>C (p.Asp431His) c.1198G>C (p.Asp400His) c.1102G>C (p.Asp368His) c.1072G>C (p.Asp358His) c.997G>C (p.Asp333His) c.895G>C (p.Asp299His) c.526G>C (p.Asp176His) | dbSNP |
| 5 | g.112821958G>T | CA16024316 | APC | c.1375G>T (p.Asp459Tyr) n.1431G>T c.*1381G>T (n.*1381G>T) c.1321G>T (p.Asp441Tyr) c.63G>T c.10G>T (p.Asp4Tyr) c.*697G>T (n.*697G>T) c.1405G>T (p.Asp469Tyr) c.1300G>T (p.Asp434Tyr) c.1291G>T (p.Asp431Tyr) c.1198G>T (p.Asp400Tyr) c.1102G>T (p.Asp368Tyr) c.1072G>T (p.Asp358Tyr) c.997G>T (p.Asp333Tyr) c.895G>T (p.Asp299Tyr) c.526G>T (p.Asp176Tyr) | |
| 5 | g.112821959A= | CA1573497191 | APC | c.1376A= (p.Asp459=) n.1432A= c.*1382A= (n.*1382A=) c.1322A= (p.Asp441=) c.64A= c.11A= (p.Asp4=) c.*698A= (n.*698A=) c.1406A= (p.Asp469=) c.1301A= (p.Asp434=) c.1292A= (p.Asp431=) c.1199A= (p.Asp400=) c.1103A= (p.Asp368=) c.1073A= (p.Asp358=) c.998A= (p.Asp333=) c.896A= (p.Asp299=) c.527A= (p.Asp176=) | |
| 5 | g.112821959A>C | CA16024317 | APC | c.1376A>C (p.Asp459Ala) n.1432A>C c.*1382A>C (n.*1382A>C) c.1322A>C (p.Asp441Ala) c.64A>C c.11A>C (p.Asp4Ala) c.*698A>C (n.*698A>C) c.1406A>C (p.Asp469Ala) c.1301A>C (p.Asp434Ala) c.1292A>C (p.Asp431Ala) c.1199A>C (p.Asp400Ala) c.1103A>C (p.Asp368Ala) c.1073A>C (p.Asp358Ala) c.998A>C (p.Asp333Ala) c.896A>C (p.Asp299Ala) c.527A>C (p.Asp176Ala) | dbSNP |
| 5 | g.112821959A>G | CA16024318 | APC | c.1376A>G (p.Asp459Gly) n.1432A>G c.*1382A>G (n.*1382A>G) c.1322A>G (p.Asp441Gly) c.64A>G c.11A>G (p.Asp4Gly) c.*698A>G (n.*698A>G) c.1406A>G (p.Asp469Gly) c.1301A>G (p.Asp434Gly) c.1292A>G (p.Asp431Gly) c.1199A>G (p.Asp400Gly) c.1103A>G (p.Asp368Gly) c.1073A>G (p.Asp358Gly) c.998A>G (p.Asp333Gly) c.896A>G (p.Asp299Gly) c.527A>G (p.Asp176Gly) | ClinVar dbSNP |
| 5 | g.112821959A>T | CA16024319 | APC | c.1376A>T (p.Asp459Val) n.1432A>T c.*1382A>T (n.*1382A>T) c.1322A>T (p.Asp441Val) c.64A>T c.11A>T (p.Asp4Val) c.*698A>T (n.*698A>T) c.1406A>T (p.Asp469Val) c.1301A>T (p.Asp434Val) c.1292A>T (p.Asp431Val) c.1199A>T (p.Asp400Val) c.1103A>T (p.Asp368Val) c.1073A>T (p.Asp358Val) c.998A>T (p.Asp333Val) c.896A>T (p.Asp299Val) c.527A>T (p.Asp176Val) | |
| 5 | g.112821959_112821966delinsATGAAGAG | CA1573497192 | APC | c.1376_1383delinsATGAAGAG (p.Asp459=) n.1432_1439delinsATGAAGAG c.*1382_*1389delinsATGAAGAG (n.*1382_*1389delinsATGAAGAG) c.1322_1329delinsATGAAGAG (p.Asp441=) c.64_71delinsATGAAGAG c.11_18delinsATGAAGAG (p.Asp4=) c.*698_*705delinsATGAAGAG (n.*698_*705delinsATGAAGAG) c.1406_1413delinsATGAAGAG (p.Asp469=) c.1301_1308delinsATGAAGAG (p.Asp434=) c.1292_1299delinsATGAAGAG (p.Asp431=) c.1199_1206delinsATGAAGAG (p.Asp400=) c.1103_1110delinsATGAAGAG (p.Asp368=) c.1073_1080delinsATGAAGAG (p.Asp358=) c.998_1005delinsATGAAGAG (p.Asp333=) c.896_903delinsATGAAGAG (p.Asp299=) c.527_534delinsATGAAGAG (p.Asp176=) | |
| 5 | g.112821960T>A | CA16024320 | APC | c.1377T>A (p.Asp459Glu) n.1433T>A c.*1383T>A (n.*1383T>A) c.1323T>A (p.Asp441Glu) c.65T>A c.12T>A (p.Asp4Glu) c.*699T>A (n.*699T>A) c.1407T>A (p.Asp469Glu) c.1302T>A (p.Asp434Glu) c.1293T>A (p.Asp431Glu) c.1200T>A (p.Asp400Glu) c.1104T>A (p.Asp368Glu) c.1074T>A (p.Asp358Glu) c.999T>A (p.Asp333Glu) c.897T>A (p.Asp299Glu) c.528T>A (p.Asp176Glu) | ClinVar dbSNP |
| 5 | g.112821960T>C | CA445755872 | APC | c.1377T>C (p.Asp459=) n.1433T>C c.*1383T>C (n.*1383T>C) c.1323T>C (p.Asp441=) c.65T>C c.12T>C (p.Asp4=) c.*699T>C (n.*699T>C) c.1407T>C (p.Asp469=) c.1302T>C (p.Asp434=) c.1293T>C (p.Asp431=) c.1200T>C (p.Asp400=) c.1104T>C (p.Asp368=) c.1074T>C (p.Asp358=) c.999T>C (p.Asp333=) c.897T>C (p.Asp299=) c.528T>C (p.Asp176=) | ClinVar dbSNP |
| 5 | g.112821960T>G | CA16024321 | APC | c.1377T>G (p.Asp459Glu) n.1433T>G c.*1383T>G (n.*1383T>G) c.1323T>G (p.Asp441Glu) c.65T>G c.12T>G (p.Asp4Glu) c.*699T>G (n.*699T>G) c.1407T>G (p.Asp469Glu) c.1302T>G (p.Asp434Glu) c.1293T>G (p.Asp431Glu) c.1200T>G (p.Asp400Glu) c.1104T>G (p.Asp368Glu) c.1074T>G (p.Asp358Glu) c.999T>G (p.Asp333Glu) c.897T>G (p.Asp299Glu) c.528T>G (p.Asp176Glu) | gnomAD v4 |
| 5 | g.112821960_112821966del | CA658823329 | APC | c.1377_1383del (p.Glu460IlefsTer5) n.1433_1439del c.*1383_*1389del (n.*1383_*1389del) c.1323_1329del (p.Glu442IlefsTer5) c.65_71del c.12_18del (p.Glu5IlefsTer5) c.*699_*705del (n.*699_*705del) c.1407_1413del (p.Glu470IlefsTer5) c.1302_1308del (p.Glu435IlefsTer5) c.1293_1299del (p.Glu432IlefsTer5) c.1200_1206del (p.Glu401IlefsTer5) c.1104_1110del (p.Glu369IlefsTer5) c.1074_1080del (p.Glu359IlefsTer5) c.999_1005del (p.Glu334IlefsTer5) c.897_903del (p.Glu300IlefsTer5) c.528_534del (p.Glu177IlefsTer5) | ClinVar dbSNP |
| 5 | g.112821961del | CA2695202732 | APC | c.1378del (p.Glu460LysfsTer7) n.1434del c.*1384del (n.*1384del) c.1324del (p.Glu442LysfsTer7) c.66del c.13del (p.Glu5LysfsTer7) c.*700del (n.*700del) c.1408del (p.Glu470LysfsTer7) c.1303del (p.Glu435LysfsTer7) c.1294del (p.Glu432LysfsTer7) c.1201del (p.Glu401LysfsTer7) c.1105del (p.Glu369LysfsTer7) c.1075del (p.Glu359LysfsTer7) c.1000del (p.Glu334LysfsTer7) c.898del (p.Glu300LysfsTer7) c.529del (p.Glu177LysfsTer7) | |
| 5 | g.112821961G>A | CA004874 | APC | c.1378G>A (p.Glu460Lys) n.1434G>A c.*1384G>A (n.*1384G>A) c.1324G>A (p.Glu442Lys) c.66G>A c.13G>A (p.Glu5Lys) c.*700G>A (n.*700G>A) c.1408G>A (p.Glu470Lys) c.1303G>A (p.Glu435Lys) c.1294G>A (p.Glu432Lys) c.1201G>A (p.Glu401Lys) c.1105G>A (p.Glu369Lys) c.1075G>A (p.Glu359Lys) c.1000G>A (p.Glu334Lys) c.898G>A (p.Glu300Lys) c.529G>A (p.Glu177Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112821961G>C | CA16024322 | APC | c.1378G>C (p.Glu460Gln) n.1434G>C c.*1384G>C (n.*1384G>C) c.1324G>C (p.Glu442Gln) c.66G>C c.13G>C (p.Glu5Gln) c.*700G>C (n.*700G>C) c.1408G>C (p.Glu470Gln) c.1303G>C (p.Glu435Gln) c.1294G>C (p.Glu432Gln) c.1201G>C (p.Glu401Gln) c.1105G>C (p.Glu369Gln) c.1075G>C (p.Glu359Gln) c.1000G>C (p.Glu334Gln) c.898G>C (p.Glu300Gln) c.529G>C (p.Glu177Gln) | ClinVar dbSNP |
| 5 | g.112821961G= | CA1573497196 | APC | c.1378G= (p.Glu460=) n.1434G= c.*1384G= (n.*1384G=) c.1324G= (p.Glu442=) c.66G= c.13G= (p.Glu5=) c.*700G= (n.*700G=) c.1408G= (p.Glu470=) c.1303G= (p.Glu435=) c.1294G= (p.Glu432=) c.1201G= (p.Glu401=) c.1105G= (p.Glu369=) c.1075G= (p.Glu359=) c.1000G= (p.Glu334=) c.898G= (p.Glu300=) c.529G= (p.Glu177=) | |
| 5 | g.112821961G>T | CA16024323 | APC | c.1378G>T (p.Glu460Ter) n.1434G>T c.*1384G>T (n.*1384G>T) c.1324G>T (p.Glu442Ter) c.66G>T c.13G>T (p.Glu5Ter) c.*700G>T (n.*700G>T) c.1408G>T (p.Glu470Ter) c.1303G>T (p.Glu435Ter) c.1294G>T (p.Glu432Ter) c.1201G>T (p.Glu401Ter) c.1105G>T (p.Glu369Ter) c.1075G>T (p.Glu359Ter) c.1000G>T (p.Glu334Ter) c.898G>T (p.Glu300Ter) c.529G>T (p.Glu177Ter) | ClinVar COSMIC |
| 5 | g.112821962A>C | CA16024324 | APC | c.1379A>C (p.Glu460Ala) n.1435A>C c.*1385A>C (n.*1385A>C) c.1325A>C (p.Glu442Ala) c.67A>C c.14A>C (p.Glu5Ala) c.*701A>C (n.*701A>C) c.1409A>C (p.Glu470Ala) c.1304A>C (p.Glu435Ala) c.1295A>C (p.Glu432Ala) c.1202A>C (p.Glu401Ala) c.1106A>C (p.Glu369Ala) c.1076A>C (p.Glu359Ala) c.1001A>C (p.Glu334Ala) c.899A>C (p.Glu300Ala) c.530A>C (p.Glu177Ala) | |
| 5 | g.112821962A>G | CA16024325 | APC | c.1379A>G (p.Glu460Gly) n.1435A>G c.*1385A>G (n.*1385A>G) c.1325A>G (p.Glu442Gly) c.67A>G c.14A>G (p.Glu5Gly) c.*701A>G (n.*701A>G) c.1409A>G (p.Glu470Gly) c.1304A>G (p.Glu435Gly) c.1295A>G (p.Glu432Gly) c.1202A>G (p.Glu401Gly) c.1106A>G (p.Glu369Gly) c.1076A>G (p.Glu359Gly) c.1001A>G (p.Glu334Gly) c.899A>G (p.Glu300Gly) c.530A>G (p.Glu177Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112821962A>T | CA16024326 | APC | c.1379A>T (p.Glu460Val) n.1435A>T c.*1385A>T (n.*1385A>T) c.1325A>T (p.Glu442Val) c.67A>T c.14A>T (p.Glu5Val) c.*701A>T (n.*701A>T) c.1409A>T (p.Glu470Val) c.1304A>T (p.Glu435Val) c.1295A>T (p.Glu432Val) c.1202A>T (p.Glu401Val) c.1106A>T (p.Glu369Val) c.1076A>T (p.Glu359Val) c.1001A>T (p.Glu334Val) c.899A>T (p.Glu300Val) c.530A>T (p.Glu177Val) | dbSNP |
| 5 | g.112821963A>C | CA16024327 | APC | c.1380A>C (p.Glu460Asp) n.1436A>C c.*1386A>C (n.*1386A>C) c.1326A>C (p.Glu442Asp) c.68A>C c.15A>C (p.Glu5Asp) c.*702A>C (n.*702A>C) c.1410A>C (p.Glu470Asp) c.1305A>C (p.Glu435Asp) c.1296A>C (p.Glu432Asp) c.1203A>C (p.Glu401Asp) c.1107A>C (p.Glu369Asp) c.1077A>C (p.Glu359Asp) c.1002A>C (p.Glu334Asp) c.900A>C (p.Glu300Asp) c.531A>C (p.Glu177Asp) | |
| 5 | g.112821963A>G | CA445755873 | APC | c.1380A>G (p.Glu460=) n.1436A>G c.*1386A>G (n.*1386A>G) c.1326A>G (p.Glu442=) c.68A>G c.15A>G (p.Glu5=) c.*702A>G (n.*702A>G) c.1410A>G (p.Glu470=) c.1305A>G (p.Glu435=) c.1296A>G (p.Glu432=) c.1203A>G (p.Glu401=) c.1107A>G (p.Glu369=) c.1077A>G (p.Glu359=) c.1002A>G (p.Glu334=) c.900A>G (p.Glu300=) c.531A>G (p.Glu177=) | |
| 5 | g.112821963A>T | CA16024328 | APC | c.1380A>T (p.Glu460Asp) n.1436A>T c.*1386A>T (n.*1386A>T) c.1326A>T (p.Glu442Asp) c.68A>T c.15A>T (p.Glu5Asp) c.*702A>T (n.*702A>T) c.1410A>T (p.Glu470Asp) c.1305A>T (p.Glu435Asp) c.1296A>T (p.Glu432Asp) c.1203A>T (p.Glu401Asp) c.1107A>T (p.Glu369Asp) c.1077A>T (p.Glu359Asp) c.1002A>T (p.Glu334Asp) c.900A>T (p.Glu300Asp) c.531A>T (p.Glu177Asp) | |
| 5 | g.112821964G>A | CA16024329 | APC | c.1381G>A (p.Glu461Lys) n.1437G>A c.*1387G>A (n.*1387G>A) c.1327G>A (p.Glu443Lys) c.69G>A c.16G>A (p.Glu6Lys) c.*703G>A (n.*703G>A) c.1411G>A (p.Glu471Lys) c.1306G>A (p.Glu436Lys) c.1297G>A (p.Glu433Lys) c.1204G>A (p.Glu402Lys) c.1108G>A (p.Glu370Lys) c.1078G>A (p.Glu360Lys) c.1003G>A (p.Glu335Lys) c.901G>A (p.Glu301Lys) c.532G>A (p.Glu178Lys) | ClinVar dbSNP |
| 5 | g.112821964G>C | CA16024330 | APC | c.1381G>C (p.Glu461Gln) n.1437G>C c.*1387G>C (n.*1387G>C) c.1327G>C (p.Glu443Gln) c.69G>C c.16G>C (p.Glu6Gln) c.*703G>C (n.*703G>C) c.1411G>C (p.Glu471Gln) c.1306G>C (p.Glu436Gln) c.1297G>C (p.Glu433Gln) c.1204G>C (p.Glu402Gln) c.1108G>C (p.Glu370Gln) c.1078G>C (p.Glu360Gln) c.1003G>C (p.Glu335Gln) c.901G>C (p.Glu301Gln) c.532G>C (p.Glu178Gln) | dbSNP |
| 5 | g.112821964G= | CA1573497198 | APC | c.1381G= (p.Glu461=) n.1437G= c.*1387G= (n.*1387G=) c.1327G= (p.Glu443=) c.69G= c.16G= (p.Glu6=) c.*703G= (n.*703G=) c.1411G= (p.Glu471=) c.1306G= (p.Glu436=) c.1297G= (p.Glu433=) c.1204G= (p.Glu402=) c.1108G= (p.Glu370=) c.1078G= (p.Glu360=) c.1003G= (p.Glu335=) c.901G= (p.Glu301=) c.532G= (p.Glu178=) | |
| 5 | g.112821964G>T | CA16024331 | APC | c.1381G>T (p.Glu461Ter) n.1437G>T c.*1387G>T (n.*1387G>T) c.1327G>T (p.Glu443Ter) c.69G>T c.16G>T (p.Glu6Ter) c.*703G>T (n.*703G>T) c.1411G>T (p.Glu471Ter) c.1306G>T (p.Glu436Ter) c.1297G>T (p.Glu433Ter) c.1204G>T (p.Glu402Ter) c.1108G>T (p.Glu370Ter) c.1078G>T (p.Glu360Ter) c.1003G>T (p.Glu335Ter) c.901G>T (p.Glu301Ter) c.532G>T (p.Glu178Ter) | COSMIC |
| 5 | g.112821965A>C | CA16024332 | APC | c.1382A>C (p.Glu461Ala) n.1438A>C c.*1388A>C (n.*1388A>C) c.1328A>C (p.Glu443Ala) c.70A>C c.17A>C (p.Glu6Ala) c.*704A>C (n.*704A>C) c.1412A>C (p.Glu471Ala) c.1307A>C (p.Glu436Ala) c.1298A>C (p.Glu433Ala) c.1205A>C (p.Glu402Ala) c.1109A>C (p.Glu370Ala) c.1079A>C (p.Glu360Ala) c.1004A>C (p.Glu335Ala) c.902A>C (p.Glu301Ala) c.533A>C (p.Glu178Ala) | |
| 5 | g.112821965A>G | CA16024333 | APC | c.1382A>G (p.Glu461Gly) n.1438A>G c.*1388A>G (n.*1388A>G) c.1328A>G (p.Glu443Gly) c.70A>G c.17A>G (p.Glu6Gly) c.*704A>G (n.*704A>G) c.1412A>G (p.Glu471Gly) c.1307A>G (p.Glu436Gly) c.1298A>G (p.Glu433Gly) c.1205A>G (p.Glu402Gly) c.1109A>G (p.Glu370Gly) c.1079A>G (p.Glu360Gly) c.1004A>G (p.Glu335Gly) c.902A>G (p.Glu301Gly) c.533A>G (p.Glu178Gly) |