| 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.112826872_112828780del | CA2581463396 | APC | c.1408+4881_1409-6171del (n.1408+4881_1409-6171del) c.1463-236_1681-76del n.1465-236_1683-76del c.*1415-236_*1633-76del c.1355-236_1573-76del c.1409-236_1627-76del c.96+4881_97-6171del c.98-236_316-76del c.*731-236_*949-76del c.1439-236_1657-76del c.1334-236_1552-76del c.1325-236_1543-76del c.1286-236_1504-76del c.1232-236_1450-76del c.1136-236_1354-76del c.1106-236_1324-76del c.1031-236_1249-76del c.929-236_1147-76del c.560-236_778-76del | |
| 5 | g.112827106_112827326del | CA2499217438 | APC | c.1408+5115_1408+5335del (n.1408+5115_1408+5335del) c.1463-2_1602+79del n.1465-2_1604+79del c.*1415-2_*1554+79del c.1355-2_1494+79del c.1409-2_1548+79del c.96+5115_96+5335del c.98-2_237+79del c.*731-2_*870+79del c.1439-2_1578+79del c.1334-2_1473+79del c.1325-2_1464+79del c.1286-2_1425+79del c.1232-2_1371+79del c.1136-2_1275+79del c.1106-2_1245+79del c.1031-2_1170+79del c.929-2_1068+79del c.560-2_699+79del | ClinVar dbSNP |
| 5 | g.112827109_112828007del | CA2581463397 | APC | c.1408+5118_1408+6016del (n.1408+5118_1408+6016del) c.1464_1680+1del n.1466_1682+1del c.*1416_*1632+1del c.1356_1572+1del c.1410_1626+1del c.96+5118_96+6016del c.99_315+1del c.*732_*948+1del c.1440_1656+1del c.1335_1551+1del c.1326_1542+1del c.1287_1503+1del c.1233_1449+1del c.1137_1353+1del c.1107_1323+1del c.1032_1248+1del c.930_1146+1del c.561_777+1del | |
| 5 | g.112827157T>A | CA16024499 | APC | c.1408+5166T>A (n.1408+5166T>A) c.1512T>A (p.Tyr504Ter) n.1514T>A c.*1464T>A (n.*1464T>A) c.1404T>A (p.Tyr468Ter) c.1458T>A (p.Tyr486Ter) c.96+5166T>A c.147T>A (p.Tyr49Ter) c.*780T>A (n.*780T>A) c.1488T>A (p.Tyr496Ter) c.1383T>A (p.Tyr461Ter) c.1374T>A (p.Tyr458Ter) c.1335T>A (p.Tyr445Ter) c.1281T>A (p.Tyr427Ter) c.1185T>A (p.Tyr395Ter) c.1155T>A (p.Tyr385Ter) c.1080T>A (p.Tyr360Ter) c.978T>A (p.Tyr326Ter) c.609T>A (p.Tyr203Ter) | dbSNP gnomAD v4 |
| 5 | g.112827157T>C | CA005169 | APC | c.1408+5166T>C (n.1408+5166T>C) c.1512T>C (p.Tyr504=) n.1514T>C c.*1464T>C (n.*1464T>C) c.1404T>C (p.Tyr468=) c.1458T>C (p.Tyr486=) c.96+5166T>C c.147T>C (p.Tyr49=) c.*780T>C (n.*780T>C) c.1488T>C (p.Tyr496=) c.1383T>C (p.Tyr461=) c.1374T>C (p.Tyr458=) c.1335T>C (p.Tyr445=) c.1281T>C (p.Tyr427=) c.1185T>C (p.Tyr395=) c.1155T>C (p.Tyr385=) c.1080T>C (p.Tyr360=) c.978T>C (p.Tyr326=) c.609T>C (p.Tyr203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112827157T>G | CA16024500 | APC | c.1408+5166T>G (n.1408+5166T>G) c.1512T>G (p.Tyr504Ter) n.1514T>G c.*1464T>G (n.*1464T>G) c.1404T>G (p.Tyr468Ter) c.1458T>G (p.Tyr486Ter) c.96+5166T>G c.147T>G (p.Tyr49Ter) c.*780T>G (n.*780T>G) c.1488T>G (p.Tyr496Ter) c.1383T>G (p.Tyr461Ter) c.1374T>G (p.Tyr458Ter) c.1335T>G (p.Tyr445Ter) c.1281T>G (p.Tyr427Ter) c.1185T>G (p.Tyr395Ter) c.1155T>G (p.Tyr385Ter) c.1080T>G (p.Tyr360Ter) c.978T>G (p.Tyr326Ter) c.609T>G (p.Tyr203Ter) | ClinVar dbSNP |
| 5 | g.112827157T= | CA1573505216 | APC | c.1408+5166T= (n.1408+5166T=) c.1512T= (p.Tyr504=) n.1514T= c.*1464T= (n.*1464T=) c.1404T= (p.Tyr468=) c.1458T= (p.Tyr486=) c.96+5166T= c.147T= (p.Tyr49=) c.*780T= (n.*780T=) c.1488T= (p.Tyr496=) c.1383T= (p.Tyr461=) c.1374T= (p.Tyr458=) c.1335T= (p.Tyr445=) c.1281T= (p.Tyr427=) c.1185T= (p.Tyr395=) c.1155T= (p.Tyr385=) c.1080T= (p.Tyr360=) c.978T= (p.Tyr326=) c.609T= (p.Tyr203=) | |
| 5 | g.112827157_112827158delinsCA | CA658683405 | APC | c.1408+5166_1408+5167delinsCA (n.1408+5166_1408+5167delinsCA) c.1512_1513delinsCA (p.Gly505Arg) n.1514_1515delinsCA c.*1464_*1465delinsCA (n.*1464_*1465delinsCA) c.1404_1405delinsCA (p.Gly469Arg) c.1458_1459delinsCA (p.Gly487Arg) c.96+5166_96+5167delinsCA c.147_148delinsCA (p.Gly50Arg) c.*780_*781delinsCA (n.*780_*781delinsCA) c.1488_1489delinsCA (p.Gly497Arg) c.1383_1384delinsCA (p.Gly462Arg) c.1374_1375delinsCA (p.Gly459Arg) c.1335_1336delinsCA (p.Gly446Arg) c.1281_1282delinsCA (p.Gly428Arg) c.1185_1186delinsCA (p.Gly396Arg) c.1155_1156delinsCA (p.Gly386Arg) c.1080_1081delinsCA (p.Gly361Arg) c.978_979delinsCA (p.Gly327Arg) c.609_610delinsCA (p.Gly204Arg) | ClinVar |
| 5 | g.112827157_112827159delinsCGA | CA658683406 | APC | c.1408+5166_1408+5168delinsCGA (n.1408+5166_1408+5168delinsCGA) c.1512_1514delinsCGA (p.Gly505Glu) n.1514_1516delinsCGA c.*1464_*1466delinsCGA (n.*1464_*1466delinsCGA) c.1404_1406delinsCGA (p.Gly469Glu) c.1458_1460delinsCGA (p.Gly487Glu) c.96+5166_96+5168delinsCGA c.147_149delinsCGA (p.Gly50Glu) c.*780_*782delinsCGA (n.*780_*782delinsCGA) c.1488_1490delinsCGA (p.Gly497Glu) c.1383_1385delinsCGA (p.Gly462Glu) c.1374_1376delinsCGA (p.Gly459Glu) c.1335_1337delinsCGA (p.Gly446Glu) c.1281_1283delinsCGA (p.Gly428Glu) c.1185_1187delinsCGA (p.Gly396Glu) c.1155_1157delinsCGA (p.Gly386Glu) c.1080_1082delinsCGA (p.Gly361Glu) c.978_980delinsCGA (p.Gly327Glu) c.609_611delinsCGA (p.Gly204Glu) | ClinVar dbSNP |
| 5 | g.112827157_112827159delinsTGG | CA1573505212 | APC | c.1408+5166_1408+5168delinsTGG (n.1408+5166_1408+5168delinsTGG) c.1512_1514delinsTGG (p.Tyr504=) n.1514_1516delinsTGG c.*1464_*1466delinsTGG (n.*1464_*1466delinsTGG) c.1404_1406delinsTGG (p.Tyr468=) c.1458_1460delinsTGG (p.Tyr486=) c.96+5166_96+5168delinsTGG c.147_149delinsTGG (p.Tyr49=) c.*780_*782delinsTGG (n.*780_*782delinsTGG) c.1488_1490delinsTGG (p.Tyr496=) c.1383_1385delinsTGG (p.Tyr461=) c.1374_1376delinsTGG (p.Tyr458=) c.1335_1337delinsTGG (p.Tyr445=) c.1281_1283delinsTGG (p.Tyr427=) c.1185_1187delinsTGG (p.Tyr395=) c.1155_1157delinsTGG (p.Tyr385=) c.1080_1082delinsTGG (p.Tyr360=) c.978_980delinsTGG (p.Tyr326=) c.609_611delinsTGG (p.Tyr203=) | |
| 5 | g.112827158G>A | CA16024501 | APC | c.1408+5167G>A (n.1408+5167G>A) c.1513G>A (p.Gly505Arg) n.1515G>A c.*1465G>A (n.*1465G>A) c.1405G>A (p.Gly469Arg) c.1459G>A (p.Gly487Arg) c.96+5167G>A c.148G>A (p.Gly50Arg) c.*781G>A (n.*781G>A) c.1489G>A (p.Gly497Arg) c.1384G>A (p.Gly462Arg) c.1375G>A (p.Gly459Arg) c.1336G>A (p.Gly446Arg) c.1282G>A (p.Gly428Arg) c.1186G>A (p.Gly396Arg) c.1156G>A (p.Gly386Arg) c.1081G>A (p.Gly361Arg) c.979G>A (p.Gly327Arg) c.610G>A (p.Gly204Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112827158G>C | CA16024502 | APC | c.1408+5167G>C (n.1408+5167G>C) c.1513G>C (p.Gly505Arg) n.1515G>C c.*1465G>C (n.*1465G>C) c.1405G>C (p.Gly469Arg) c.1459G>C (p.Gly487Arg) c.96+5167G>C c.148G>C (p.Gly50Arg) c.*781G>C (n.*781G>C) c.1489G>C (p.Gly497Arg) c.1384G>C (p.Gly462Arg) c.1375G>C (p.Gly459Arg) c.1336G>C (p.Gly446Arg) c.1282G>C (p.Gly428Arg) c.1186G>C (p.Gly396Arg) c.1156G>C (p.Gly386Arg) c.1081G>C (p.Gly361Arg) c.979G>C (p.Gly327Arg) c.610G>C (p.Gly204Arg) | ClinVar dbSNP |
| 5 | g.112827158G= | CA1573505233 | APC | c.1408+5167G= (n.1408+5167G=) c.1513G= (p.Gly505=) n.1515G= c.*1465G= (n.*1465G=) c.1405G= (p.Gly469=) c.1459G= (p.Gly487=) c.96+5167G= c.148G= (p.Gly50=) c.*781G= (n.*781G=) c.1489G= (p.Gly497=) c.1384G= (p.Gly462=) c.1375G= (p.Gly459=) c.1336G= (p.Gly446=) c.1282G= (p.Gly428=) c.1186G= (p.Gly396=) c.1156G= (p.Gly386=) c.1081G= (p.Gly361=) c.979G= (p.Gly327=) c.610G= (p.Gly204=) | |
| 5 | g.112827158G>T | CA16024503 | APC | c.1408+5167G>T (n.1408+5167G>T) c.1513G>T (p.Gly505Trp) n.1515G>T c.*1465G>T (n.*1465G>T) c.1405G>T (p.Gly469Trp) c.1459G>T (p.Gly487Trp) c.96+5167G>T c.148G>T (p.Gly50Trp) c.*781G>T (n.*781G>T) c.1489G>T (p.Gly497Trp) c.1384G>T (p.Gly462Trp) c.1375G>T (p.Gly459Trp) c.1336G>T (p.Gly446Trp) c.1282G>T (p.Gly428Trp) c.1186G>T (p.Gly396Trp) c.1156G>T (p.Gly386Trp) c.1081G>T (p.Gly361Trp) c.979G>T (p.Gly327Trp) c.610G>T (p.Gly204Trp) | COSMIC |
| 5 | g.112827158delinsCA | CA913187317 | APC | c.1408+5167delinsCA (n.1408+5167delinsCA) c.1513delinsCA (p.Gly505GlnfsTer4) n.1515delinsCA c.*1465delinsCA (n.*1465delinsCA) c.1405delinsCA (p.Gly469GlnfsTer4) c.1459delinsCA (p.Gly487GlnfsTer4) c.96+5167delinsCA c.148delinsCA (p.Gly50GlnfsTer4) c.*781delinsCA (n.*781delinsCA) c.1489delinsCA (p.Gly497GlnfsTer4) c.1384delinsCA (p.Gly462GlnfsTer4) c.1375delinsCA (p.Gly459GlnfsTer4) c.1336delinsCA (p.Gly446GlnfsTer4) c.1282delinsCA (p.Gly428GlnfsTer4) c.1186delinsCA (p.Gly396GlnfsTer4) c.1156delinsCA (p.Gly386GlnfsTer4) c.1081delinsCA (p.Gly361GlnfsTer4) c.979delinsCA (p.Gly327GlnfsTer4) c.610delinsCA (p.Gly204GlnfsTer4) | |
| 5 | g.112827160del | CA658760451 | APC | c.1408+5169del (n.1408+5169del) c.1515del (p.Thr507LeufsTer9) n.1517del c.*1467del (n.*1467del) c.1407del (p.Thr471LeufsTer9) c.1461del (p.Thr489LeufsTer9) c.96+5169del c.150del (p.Thr52LeufsTer9) c.*783del (n.*783del) c.1491del (p.Thr499LeufsTer9) c.1386del (p.Thr464LeufsTer9) c.1377del (p.Thr461LeufsTer9) c.1338del (p.Thr448LeufsTer9) c.1284del (p.Thr430LeufsTer9) c.1188del (p.Thr398LeufsTer9) c.1158del (p.Thr388LeufsTer9) c.1083del (p.Thr363LeufsTer9) c.981del (p.Thr329LeufsTer9) c.612del (p.Thr206LeufsTer9) | |
| 5 | g.112827159G>A | CA16024504 | APC | c.1408+5168G>A (n.1408+5168G>A) c.1514G>A (p.Gly505Glu) n.1516G>A c.*1466G>A (n.*1466G>A) c.1406G>A (p.Gly469Glu) c.1460G>A (p.Gly487Glu) c.96+5168G>A c.149G>A (p.Gly50Glu) c.*782G>A (n.*782G>A) c.1490G>A (p.Gly497Glu) c.1385G>A (p.Gly462Glu) c.1376G>A (p.Gly459Glu) c.1337G>A (p.Gly446Glu) c.1283G>A (p.Gly428Glu) c.1187G>A (p.Gly396Glu) c.1157G>A (p.Gly386Glu) c.1082G>A (p.Gly361Glu) c.980G>A (p.Gly327Glu) c.611G>A (p.Gly204Glu) | ClinVar dbSNP |
| 5 | g.112827159G>C | CA16024505 | APC | c.1408+5168G>C (n.1408+5168G>C) c.1514G>C (p.Gly505Ala) n.1516G>C c.*1466G>C (n.*1466G>C) c.1406G>C (p.Gly469Ala) c.1460G>C (p.Gly487Ala) c.96+5168G>C c.149G>C (p.Gly50Ala) c.*782G>C (n.*782G>C) c.1490G>C (p.Gly497Ala) c.1385G>C (p.Gly462Ala) c.1376G>C (p.Gly459Ala) c.1337G>C (p.Gly446Ala) c.1283G>C (p.Gly428Ala) c.1187G>C (p.Gly396Ala) c.1157G>C (p.Gly386Ala) c.1082G>C (p.Gly361Ala) c.980G>C (p.Gly327Ala) c.611G>C (p.Gly204Ala) | dbSNP |
| 5 | g.112827159G= | CA1573505238 | APC | c.1408+5168G= (n.1408+5168G=) c.1514G= (p.Gly505=) n.1516G= c.*1466G= (n.*1466G=) c.1406G= (p.Gly469=) c.1460G= (p.Gly487=) c.96+5168G= c.149G= (p.Gly50=) c.*782G= (n.*782G=) c.1490G= (p.Gly497=) c.1385G= (p.Gly462=) c.1376G= (p.Gly459=) c.1337G= (p.Gly446=) c.1283G= (p.Gly428=) c.1187G= (p.Gly396=) c.1157G= (p.Gly386=) c.1082G= (p.Gly361=) c.980G= (p.Gly327=) c.611G= (p.Gly204=) | |
| 5 | g.112827159G>T | CA16024506 | APC | c.1408+5168G>T (n.1408+5168G>T) c.1514G>T (p.Gly505Val) n.1516G>T c.*1466G>T (n.*1466G>T) c.1406G>T (p.Gly469Val) c.1460G>T (p.Gly487Val) c.96+5168G>T c.149G>T (p.Gly50Val) c.*782G>T (n.*782G>T) c.1490G>T (p.Gly497Val) c.1385G>T (p.Gly462Val) c.1376G>T (p.Gly459Val) c.1337G>T (p.Gly446Val) c.1283G>T (p.Gly428Val) c.1187G>T (p.Gly396Val) c.1157G>T (p.Gly386Val) c.1082G>T (p.Gly361Val) c.980G>T (p.Gly327Val) c.611G>T (p.Gly204Val) | dbSNP |
| 5 | g.112827160G>A | CA445755919 | APC | c.1408+5169G>A (n.1408+5169G>A) c.1515G>A (p.Gly505=) n.1517G>A c.*1467G>A (n.*1467G>A) c.1407G>A (p.Gly469=) c.1461G>A (p.Gly487=) c.96+5169G>A c.150G>A (p.Gly50=) c.*783G>A (n.*783G>A) c.1491G>A (p.Gly497=) c.1386G>A (p.Gly462=) c.1377G>A (p.Gly459=) c.1338G>A (p.Gly446=) c.1284G>A (p.Gly428=) c.1188G>A (p.Gly396=) c.1158G>A (p.Gly386=) c.1083G>A (p.Gly361=) c.981G>A (p.Gly327=) c.612G>A (p.Gly204=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112827160G>C | CA445755920 | APC | c.1408+5169G>C (n.1408+5169G>C) c.1515G>C (p.Gly505=) n.1517G>C c.*1467G>C (n.*1467G>C) c.1407G>C (p.Gly469=) c.1461G>C (p.Gly487=) c.96+5169G>C c.150G>C (p.Gly50=) c.*783G>C (n.*783G>C) c.1491G>C (p.Gly497=) c.1386G>C (p.Gly462=) c.1377G>C (p.Gly459=) c.1338G>C (p.Gly446=) c.1284G>C (p.Gly428=) c.1188G>C (p.Gly396=) c.1158G>C (p.Gly386=) c.1083G>C (p.Gly361=) c.981G>C (p.Gly327=) c.612G>C (p.Gly204=) | ClinVar dbSNP |
| 5 | g.112827160G= | CA1573505271 | APC | c.1408+5169G= (n.1408+5169G=) c.1515G= (p.Gly505=) n.1517G= c.*1467G= (n.*1467G=) c.1407G= (p.Gly469=) c.1461G= (p.Gly487=) c.96+5169G= c.150G= (p.Gly50=) c.*783G= (n.*783G=) c.1491G= (p.Gly497=) c.1386G= (p.Gly462=) c.1377G= (p.Gly459=) c.1338G= (p.Gly446=) c.1284G= (p.Gly428=) c.1188G= (p.Gly396=) c.1158G= (p.Gly386=) c.1083G= (p.Gly361=) c.981G= (p.Gly327=) c.612G= (p.Gly204=) | |
| 5 | g.112827160G>T | CA445755921 | APC | c.1408+5169G>T (n.1408+5169G>T) c.1515G>T (p.Gly505=) n.1517G>T c.*1467G>T (n.*1467G>T) c.1407G>T (p.Gly469=) c.1461G>T (p.Gly487=) c.96+5169G>T c.150G>T (p.Gly50=) c.*783G>T (n.*783G>T) c.1491G>T (p.Gly497=) c.1386G>T (p.Gly462=) c.1377G>T (p.Gly459=) c.1338G>T (p.Gly446=) c.1284G>T (p.Gly428=) c.1188G>T (p.Gly396=) c.1158G>T (p.Gly386=) c.1083G>T (p.Gly361=) c.981G>T (p.Gly327=) c.612G>T (p.Gly204=) | ClinVar dbSNP |
| 5 | g.112827160_112827164delinsGCTTA | CA1573505269 | APC | c.1408+5169_1408+5173delinsGCTTA (n.1408+5169_1408+5173delinsGCTTA) c.1515_1519delinsGCTTA (p.Gly505=) n.1517_1521delinsGCTTA c.*1467_*1471delinsGCTTA (n.*1467_*1471delinsGCTTA) c.1407_1411delinsGCTTA (p.Gly469=) c.1461_1465delinsGCTTA (p.Gly487=) c.96+5169_96+5173delinsGCTTA c.150_154delinsGCTTA (p.Gly50=) c.*783_*787delinsGCTTA (n.*783_*787delinsGCTTA) c.1491_1495delinsGCTTA (p.Gly497=) c.1386_1390delinsGCTTA (p.Gly462=) c.1377_1381delinsGCTTA (p.Gly459=) c.1338_1342delinsGCTTA (p.Gly446=) c.1284_1288delinsGCTTA (p.Gly428=) c.1188_1192delinsGCTTA (p.Gly396=) c.1158_1162delinsGCTTA (p.Gly386=) c.1083_1087delinsGCTTA (p.Gly361=) c.981_985delinsGCTTA (p.Gly327=) c.612_616delinsGCTTA (p.Gly204=) | |
| 5 | g.112827161C>A | CA16024507 | APC | c.1408+5170C>A (n.1408+5170C>A) c.1516C>A (p.Leu506Ile) n.1518C>A c.*1468C>A (n.*1468C>A) c.1408C>A (p.Leu470Ile) c.1462C>A (p.Leu488Ile) c.96+5170C>A c.151C>A (p.Leu51Ile) c.*784C>A (n.*784C>A) c.1492C>A (p.Leu498Ile) c.1387C>A (p.Leu463Ile) c.1378C>A (p.Leu460Ile) c.1339C>A (p.Leu447Ile) c.1285C>A (p.Leu429Ile) c.1189C>A (p.Leu397Ile) c.1159C>A (p.Leu387Ile) c.1084C>A (p.Leu362Ile) c.982C>A (p.Leu328Ile) c.613C>A (p.Leu205Ile) | |
| 5 | g.112827161C= | CA1573505280 | APC | c.1408+5170C= (n.1408+5170C=) c.1516C= (p.Leu506=) n.1518C= c.*1468C= (n.*1468C=) c.1408C= (p.Leu470=) c.1462C= (p.Leu488=) c.96+5170C= c.151C= (p.Leu51=) c.*784C= (n.*784C=) c.1492C= (p.Leu498=) c.1387C= (p.Leu463=) c.1378C= (p.Leu460=) c.1339C= (p.Leu447=) c.1285C= (p.Leu429=) c.1189C= (p.Leu397=) c.1159C= (p.Leu387=) c.1084C= (p.Leu362=) c.982C= (p.Leu328=) c.613C= (p.Leu205=) | |
| 5 | g.112827161C>G | CA16024508 | APC | c.1408+5170C>G (n.1408+5170C>G) c.1516C>G (p.Leu506Val) n.1518C>G c.*1468C>G (n.*1468C>G) c.1408C>G (p.Leu470Val) c.1462C>G (p.Leu488Val) c.96+5170C>G c.151C>G (p.Leu51Val) c.*784C>G (n.*784C>G) c.1492C>G (p.Leu498Val) c.1387C>G (p.Leu463Val) c.1378C>G (p.Leu460Val) c.1339C>G (p.Leu447Val) c.1285C>G (p.Leu429Val) c.1189C>G (p.Leu397Val) c.1159C>G (p.Leu387Val) c.1084C>G (p.Leu362Val) c.982C>G (p.Leu328Val) c.613C>G (p.Leu205Val) | |
| 5 | g.112827161C>T | CA005184 | APC | c.1408+5170C>T (n.1408+5170C>T) c.1516C>T (p.Leu506Phe) n.1518C>T c.*1468C>T (n.*1468C>T) c.1408C>T (p.Leu470Phe) c.1462C>T (p.Leu488Phe) c.96+5170C>T c.151C>T (p.Leu51Phe) c.*784C>T (n.*784C>T) c.1492C>T (p.Leu498Phe) c.1387C>T (p.Leu463Phe) c.1378C>T (p.Leu460Phe) c.1339C>T (p.Leu447Phe) c.1285C>T (p.Leu429Phe) c.1189C>T (p.Leu397Phe) c.1159C>T (p.Leu387Phe) c.1084C>T (p.Leu362Phe) c.982C>T (p.Leu328Phe) c.613C>T (p.Leu205Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112827163_112827166del | CA645369348 | APC | c.1408+5172_1408+5175del (n.1408+5172_1408+5175del) c.1518_1521del (p.Thr507MetfsTer8) n.1520_1523del c.*1470_*1473del (n.*1470_*1473del) c.1410_1413del (p.Thr471MetfsTer8) c.1464_1467del (p.Thr489MetfsTer8) c.96+5172_96+5175del c.153_156del (p.Thr52MetfsTer8) c.*786_*789del (n.*786_*789del) c.1494_1497del (p.Thr499MetfsTer8) c.1389_1392del (p.Thr464MetfsTer8) c.1380_1383del (p.Thr461MetfsTer8) c.1341_1344del (p.Thr448MetfsTer8) c.1287_1290del (p.Thr430MetfsTer8) c.1191_1194del (p.Thr398MetfsTer8) c.1161_1164del (p.Thr388MetfsTer8) c.1086_1089del (p.Thr363MetfsTer8) c.984_987del (p.Thr329MetfsTer8) c.615_618del (p.Thr206MetfsTer8) | ClinVar dbSNP |
| 5 | g.112827162T>A | CA16024509 | APC | c.1408+5171T>A (n.1408+5171T>A) c.1517T>A (p.Leu506His) n.1519T>A c.*1469T>A (n.*1469T>A) c.1409T>A (p.Leu470His) c.1463T>A (p.Leu488His) c.96+5171T>A c.152T>A (p.Leu51His) c.*785T>A (n.*785T>A) c.1493T>A (p.Leu498His) c.1388T>A (p.Leu463His) c.1379T>A (p.Leu460His) c.1340T>A (p.Leu447His) c.1286T>A (p.Leu429His) c.1190T>A (p.Leu397His) c.1160T>A (p.Leu387His) c.1085T>A (p.Leu362His) c.983T>A (p.Leu328His) c.614T>A (p.Leu205His) | dbSNP |
| 5 | g.112827162T>C | CA027830 | APC | c.1408+5171T>C (n.1408+5171T>C) c.1517T>C (p.Leu506Pro) n.1519T>C c.*1469T>C (n.*1469T>C) c.1409T>C (p.Leu470Pro) c.1463T>C (p.Leu488Pro) c.96+5171T>C c.152T>C (p.Leu51Pro) c.*785T>C (n.*785T>C) c.1493T>C (p.Leu498Pro) c.1388T>C (p.Leu463Pro) c.1379T>C (p.Leu460Pro) c.1340T>C (p.Leu447Pro) c.1286T>C (p.Leu429Pro) c.1190T>C (p.Leu397Pro) c.1160T>C (p.Leu387Pro) c.1085T>C (p.Leu362Pro) c.983T>C (p.Leu328Pro) c.614T>C (p.Leu205Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112827162T>G | CA16024510 | APC | c.1408+5171T>G (n.1408+5171T>G) c.1517T>G (p.Leu506Arg) n.1519T>G c.*1469T>G (n.*1469T>G) c.1409T>G (p.Leu470Arg) c.1463T>G (p.Leu488Arg) c.96+5171T>G c.152T>G (p.Leu51Arg) c.*785T>G (n.*785T>G) c.1493T>G (p.Leu498Arg) c.1388T>G (p.Leu463Arg) c.1379T>G (p.Leu460Arg) c.1340T>G (p.Leu447Arg) c.1286T>G (p.Leu429Arg) c.1190T>G (p.Leu397Arg) c.1160T>G (p.Leu387Arg) c.1085T>G (p.Leu362Arg) c.983T>G (p.Leu328Arg) c.614T>G (p.Leu205Arg) | |
| 5 | g.112827162T= | CA1573505293 | APC | c.1408+5171T= (n.1408+5171T=) c.1517T= (p.Leu506=) n.1519T= c.*1469T= (n.*1469T=) c.1409T= (p.Leu470=) c.1463T= (p.Leu488=) c.96+5171T= c.152T= (p.Leu51=) c.*785T= (n.*785T=) c.1493T= (p.Leu498=) c.1388T= (p.Leu463=) c.1379T= (p.Leu460=) c.1340T= (p.Leu447=) c.1286T= (p.Leu429=) c.1190T= (p.Leu397=) c.1160T= (p.Leu387=) c.1085T= (p.Leu362=) c.983T= (p.Leu328=) c.614T= (p.Leu205=) | |
| 5 | g.112827163dup | CA658760453 | APC | c.1408+5172dup (n.1408+5172dup) c.1518dup (p.Thr507TyrfsTer2) n.1520dup c.*1470dup (n.*1470dup) c.1410dup (p.Thr471TyrfsTer2) c.1464dup (p.Thr489TyrfsTer2) c.96+5172dup c.153dup (p.Thr52TyrfsTer2) c.*786dup (n.*786dup) c.1494dup (p.Thr499TyrfsTer2) c.1389dup (p.Thr464TyrfsTer2) c.1380dup (p.Thr461TyrfsTer2) c.1341dup (p.Thr448TyrfsTer2) c.1287dup (p.Thr430TyrfsTer2) c.1191dup (p.Thr398TyrfsTer2) c.1161dup (p.Thr388TyrfsTer2) c.1086dup (p.Thr363TyrfsTer2) c.984dup (p.Thr329TyrfsTer2) c.615dup (p.Thr206TyrfsTer2) | |
| 5 | g.112827162_112827175delinsTTACTAATGACCAC | CA1573505294 | APC | c.1408+5171_1408+5184delinsTTACTAATGACCAC (n.1408+5171_1408+5184delinsTTACTAATGACCAC) c.1517_1530delinsTTACTAATGACCAC (p.Leu506=) n.1519_1532delinsTTACTAATGACCAC c.*1469_*1482delinsTTACTAATGACCAC (n.*1469_*1482delinsTTACTAATGACCAC) c.1409_1422delinsTTACTAATGACCAC (p.Leu470=) c.1463_1476delinsTTACTAATGACCAC (p.Leu488=) c.96+5171_96+5184delinsTTACTAATGACCAC c.152_165delinsTTACTAATGACCAC (p.Leu51=) c.*785_*798delinsTTACTAATGACCAC (n.*785_*798delinsTTACTAATGACCAC) c.1493_1506delinsTTACTAATGACCAC (p.Leu498=) c.1388_1401delinsTTACTAATGACCAC (p.Leu463=) c.1379_1392delinsTTACTAATGACCAC (p.Leu460=) c.1340_1353delinsTTACTAATGACCAC (p.Leu447=) c.1286_1299delinsTTACTAATGACCAC (p.Leu429=) c.1190_1203delinsTTACTAATGACCAC (p.Leu397=) c.1160_1173delinsTTACTAATGACCAC (p.Leu387=) c.1085_1098delinsTTACTAATGACCAC (p.Leu362=) c.983_996delinsTTACTAATGACCAC (p.Leu328=) c.614_627delinsTTACTAATGACCAC (p.Leu205=) | |
| 5 | g.112827163T>A | CA445755922 | APC | c.1408+5172T>A (n.1408+5172T>A) c.1518T>A (p.Leu506=) n.1520T>A c.*1470T>A (n.*1470T>A) c.1410T>A (p.Leu470=) c.1464T>A (p.Leu488=) c.96+5172T>A c.153T>A (p.Leu51=) c.*786T>A (n.*786T>A) c.1494T>A (p.Leu498=) c.1389T>A (p.Leu463=) c.1380T>A (p.Leu460=) c.1341T>A (p.Leu447=) c.1287T>A (p.Leu429=) c.1191T>A (p.Leu397=) c.1161T>A (p.Leu387=) c.1086T>A (p.Leu362=) c.984T>A (p.Leu328=) c.615T>A (p.Leu205=) | dbSNP |
| 5 | g.112827163T>C | CA445755923 | APC | c.1408+5172T>C (n.1408+5172T>C) c.1518T>C (p.Leu506=) n.1520T>C c.*1470T>C (n.*1470T>C) c.1410T>C (p.Leu470=) c.1464T>C (p.Leu488=) c.96+5172T>C c.153T>C (p.Leu51=) c.*786T>C (n.*786T>C) c.1494T>C (p.Leu498=) c.1389T>C (p.Leu463=) c.1380T>C (p.Leu460=) c.1341T>C (p.Leu447=) c.1287T>C (p.Leu429=) c.1191T>C (p.Leu397=) c.1161T>C (p.Leu387=) c.1086T>C (p.Leu362=) c.984T>C (p.Leu328=) c.615T>C (p.Leu205=) | |
| 5 | g.112827163T>G | CA445755924 | APC | c.1408+5172T>G (n.1408+5172T>G) c.1518T>G (p.Leu506=) n.1520T>G c.*1470T>G (n.*1470T>G) c.1410T>G (p.Leu470=) c.1464T>G (p.Leu488=) c.96+5172T>G c.153T>G (p.Leu51=) c.*786T>G (n.*786T>G) c.1494T>G (p.Leu498=) c.1389T>G (p.Leu463=) c.1380T>G (p.Leu460=) c.1341T>G (p.Leu447=) c.1287T>G (p.Leu429=) c.1191T>G (p.Leu397=) c.1161T>G (p.Leu387=) c.1086T>G (p.Leu362=) c.984T>G (p.Leu328=) c.615T>G (p.Leu205=) | |
| 5 | g.112827166_112827178del | CA915942600 | APC | c.1408+5175_1408+5187del (n.1408+5175_1408+5187del) c.1521_1533del (p.Asn508ValfsTer4) n.1523_1535del c.*1473_*1485del (n.*1473_*1485del) c.1413_1425del (p.Asn472ValfsTer4) c.1467_1479del (p.Asn490ValfsTer4) c.96+5175_96+5187del c.156_168del (p.Asn53ValfsTer4) c.*789_*801del (n.*789_*801del) c.1497_1509del (p.Asn500ValfsTer4) c.1392_1404del (p.Asn465ValfsTer4) c.1383_1395del (p.Asn462ValfsTer4) c.1344_1356del (p.Asn449ValfsTer4) c.1290_1302del (p.Asn431ValfsTer4) c.1194_1206del (p.Asn399ValfsTer4) c.1164_1176del (p.Asn389ValfsTer4) c.1089_1101del (p.Asn364ValfsTer4) c.987_999del (p.Asn330ValfsTer4) c.618_630del (p.Asn207ValfsTer4) | ClinVar dbSNP |
| 5 | g.112827164A= | CA1573505305 | APC | c.1408+5173A= (n.1408+5173A=) c.1519A= (p.Thr507=) n.1521A= c.*1471A= (n.*1471A=) c.1411A= (p.Thr471=) c.1465A= (p.Thr489=) c.96+5173A= c.154A= (p.Thr52=) c.*787A= (n.*787A=) c.1495A= (p.Thr499=) c.1390A= (p.Thr464=) c.1381A= (p.Thr461=) c.1342A= (p.Thr448=) c.1288A= (p.Thr430=) c.1192A= (p.Thr398=) c.1162A= (p.Thr388=) c.1087A= (p.Thr363=) c.985A= (p.Thr329=) c.616A= (p.Thr206=) | |
| 5 | g.112827164A>C | CA16024511 | APC | c.1408+5173A>C (n.1408+5173A>C) c.1519A>C (p.Thr507Pro) n.1521A>C c.*1471A>C (n.*1471A>C) c.1411A>C (p.Thr471Pro) c.1465A>C (p.Thr489Pro) c.96+5173A>C c.154A>C (p.Thr52Pro) c.*787A>C (n.*787A>C) c.1495A>C (p.Thr499Pro) c.1390A>C (p.Thr464Pro) c.1381A>C (p.Thr461Pro) c.1342A>C (p.Thr448Pro) c.1288A>C (p.Thr430Pro) c.1192A>C (p.Thr398Pro) c.1162A>C (p.Thr388Pro) c.1087A>C (p.Thr363Pro) c.985A>C (p.Thr329Pro) c.616A>C (p.Thr206Pro) | |
| 5 | g.112827164A>G | CA027849 | APC | c.1408+5173A>G (n.1408+5173A>G) c.1519A>G (p.Thr507Ala) n.1521A>G c.*1471A>G (n.*1471A>G) c.1411A>G (p.Thr471Ala) c.1465A>G (p.Thr489Ala) c.96+5173A>G c.154A>G (p.Thr52Ala) c.*787A>G (n.*787A>G) c.1495A>G (p.Thr499Ala) c.1390A>G (p.Thr464Ala) c.1381A>G (p.Thr461Ala) c.1342A>G (p.Thr448Ala) c.1288A>G (p.Thr430Ala) c.1192A>G (p.Thr398Ala) c.1162A>G (p.Thr388Ala) c.1087A>G (p.Thr363Ala) c.985A>G (p.Thr329Ala) c.616A>G (p.Thr206Ala) | dbSNP ExAC gnomAD v2 |
| 5 | g.112827164A>T | CA16024512 | APC | c.1408+5173A>T (n.1408+5173A>T) c.1519A>T (p.Thr507Ser) n.1521A>T c.*1471A>T (n.*1471A>T) c.1411A>T (p.Thr471Ser) c.1465A>T (p.Thr489Ser) c.96+5173A>T c.154A>T (p.Thr52Ser) c.*787A>T (n.*787A>T) c.1495A>T (p.Thr499Ser) c.1390A>T (p.Thr464Ser) c.1381A>T (p.Thr461Ser) c.1342A>T (p.Thr448Ser) c.1288A>T (p.Thr430Ser) c.1192A>T (p.Thr398Ser) c.1162A>T (p.Thr388Ser) c.1087A>T (p.Thr363Ser) c.985A>T (p.Thr329Ser) c.616A>T (p.Thr206Ser) | dbSNP |
| 5 | g.112827164_112827166delinsACT | CA1573505308 | APC | c.1408+5173_1408+5175delinsACT (n.1408+5173_1408+5175delinsACT) c.1519_1521delinsACT (p.Thr507=) n.1521_1523delinsACT c.*1471_*1473delinsACT (n.*1471_*1473delinsACT) c.1411_1413delinsACT (p.Thr471=) c.1465_1467delinsACT (p.Thr489=) c.96+5173_96+5175delinsACT c.154_156delinsACT (p.Thr52=) c.*787_*789delinsACT (n.*787_*789delinsACT) c.1495_1497delinsACT (p.Thr499=) c.1390_1392delinsACT (p.Thr464=) c.1381_1383delinsACT (p.Thr461=) c.1342_1344delinsACT (p.Thr448=) c.1288_1290delinsACT (p.Thr430=) c.1192_1194delinsACT (p.Thr398=) c.1162_1164delinsACT (p.Thr388=) c.1087_1089delinsACT (p.Thr363=) c.985_987delinsACT (p.Thr329=) c.616_618delinsACT (p.Thr206=) | |
| 5 | g.112827165C>A | CA16024513 | APC | c.1408+5174C>A (n.1408+5174C>A) c.1520C>A (p.Thr507Asn) n.1522C>A c.*1472C>A (n.*1472C>A) c.1412C>A (p.Thr471Asn) c.1466C>A (p.Thr489Asn) c.96+5174C>A c.155C>A (p.Thr52Asn) c.*788C>A (n.*788C>A) c.1496C>A (p.Thr499Asn) c.1391C>A (p.Thr464Asn) c.1382C>A (p.Thr461Asn) c.1343C>A (p.Thr448Asn) c.1289C>A (p.Thr430Asn) c.1193C>A (p.Thr398Asn) c.1163C>A (p.Thr388Asn) c.1088C>A (p.Thr363Asn) c.986C>A (p.Thr329Asn) c.617C>A (p.Thr206Asn) | |
| 5 | g.112827165C>G | CA16024514 | APC | c.1408+5174C>G (n.1408+5174C>G) c.1520C>G (p.Thr507Ser) n.1522C>G c.*1472C>G (n.*1472C>G) c.1412C>G (p.Thr471Ser) c.1466C>G (p.Thr489Ser) c.96+5174C>G c.155C>G (p.Thr52Ser) c.*788C>G (n.*788C>G) c.1496C>G (p.Thr499Ser) c.1391C>G (p.Thr464Ser) c.1382C>G (p.Thr461Ser) c.1343C>G (p.Thr448Ser) c.1289C>G (p.Thr430Ser) c.1193C>G (p.Thr398Ser) c.1163C>G (p.Thr388Ser) c.1088C>G (p.Thr363Ser) c.986C>G (p.Thr329Ser) c.617C>G (p.Thr206Ser) | dbSNP |
| 5 | g.112827165C>T | CA16024515 | APC | c.1408+5174C>T (n.1408+5174C>T) c.1520C>T (p.Thr507Ile) n.1522C>T c.*1472C>T (n.*1472C>T) c.1412C>T (p.Thr471Ile) c.1466C>T (p.Thr489Ile) c.96+5174C>T c.155C>T (p.Thr52Ile) c.*788C>T (n.*788C>T) c.1496C>T (p.Thr499Ile) c.1391C>T (p.Thr464Ile) c.1382C>T (p.Thr461Ile) c.1343C>T (p.Thr448Ile) c.1289C>T (p.Thr430Ile) c.1193C>T (p.Thr398Ile) c.1163C>T (p.Thr388Ile) c.1088C>T (p.Thr363Ile) c.986C>T (p.Thr329Ile) c.617C>T (p.Thr206Ile) | |
| 5 | g.112827165_112827166del | CA1139658996 | APC | c.1408+5174_1408+5175del (n.1408+5174_1408+5175del) c.1520_1521del (p.Thr507LysfsTer2) n.1522_1523del c.*1472_*1473del (n.*1472_*1473del) c.1412_1413del (p.Thr471LysfsTer2) c.1466_1467del (p.Thr489LysfsTer2) c.96+5174_96+5175del c.155_156del (p.Thr52LysfsTer2) c.*788_*789del (n.*788_*789del) c.1496_1497del (p.Thr499LysfsTer2) c.1391_1392del (p.Thr464LysfsTer2) c.1382_1383del (p.Thr461LysfsTer2) c.1343_1344del (p.Thr448LysfsTer2) c.1289_1290del (p.Thr430LysfsTer2) c.1193_1194del (p.Thr398LysfsTer2) c.1163_1164del (p.Thr388LysfsTer2) c.1088_1089del (p.Thr363LysfsTer2) c.986_987del (p.Thr329LysfsTer2) c.617_618del (p.Thr206LysfsTer2) | ClinVar dbSNP |