| 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.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.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.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.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 |
| 5 | g.112827166T>A | CA445755928 | APC | c.1408+5175T>A (n.1408+5175T>A) c.1521T>A (p.Thr507=) n.1523T>A c.*1473T>A (n.*1473T>A) c.1413T>A (p.Thr471=) c.1467T>A (p.Thr489=) c.96+5175T>A c.156T>A (p.Thr52=) c.*789T>A (n.*789T>A) c.1497T>A (p.Thr499=) c.1392T>A (p.Thr464=) c.1383T>A (p.Thr461=) c.1344T>A (p.Thr448=) c.1290T>A (p.Thr430=) c.1194T>A (p.Thr398=) c.1164T>A (p.Thr388=) c.1089T>A (p.Thr363=) c.987T>A (p.Thr329=) c.618T>A (p.Thr206=) | dbSNP |
| 5 | g.112827166T>C | CA445755930 | APC | c.1408+5175T>C (n.1408+5175T>C) c.1521T>C (p.Thr507=) n.1523T>C c.*1473T>C (n.*1473T>C) c.1413T>C (p.Thr471=) c.1467T>C (p.Thr489=) c.96+5175T>C c.156T>C (p.Thr52=) c.*789T>C (n.*789T>C) c.1497T>C (p.Thr499=) c.1392T>C (p.Thr464=) c.1383T>C (p.Thr461=) c.1344T>C (p.Thr448=) c.1290T>C (p.Thr430=) c.1194T>C (p.Thr398=) c.1164T>C (p.Thr388=) c.1089T>C (p.Thr363=) c.987T>C (p.Thr329=) c.618T>C (p.Thr206=) | ClinVar |
| 5 | g.112827166T>G | CA445755931 | APC | c.1408+5175T>G (n.1408+5175T>G) c.1521T>G (p.Thr507=) n.1523T>G c.*1473T>G (n.*1473T>G) c.1413T>G (p.Thr471=) c.1467T>G (p.Thr489=) c.96+5175T>G c.156T>G (p.Thr52=) c.*789T>G (n.*789T>G) c.1497T>G (p.Thr499=) c.1392T>G (p.Thr464=) c.1383T>G (p.Thr461=) c.1344T>G (p.Thr448=) c.1290T>G (p.Thr430=) c.1194T>G (p.Thr398=) c.1164T>G (p.Thr388=) c.1089T>G (p.Thr363=) c.987T>G (p.Thr329=) c.618T>G (p.Thr206=) | |
| 5 | g.112827166_112827176dup | CA1139771846 | APC | c.1408+5175_1408+5185dup (n.1408+5175_1408+5185dup) c.1521_1531dup (p.Tyr511LeufsTer9) n.1523_1533dup c.*1473_*1483dup (n.*1473_*1483dup) c.1413_1423dup (p.Tyr475LeufsTer9) c.1467_1477dup (p.Tyr493LeufsTer9) c.96+5175_96+5185dup c.156_166dup (p.Tyr56LeufsTer9) c.*789_*799dup (n.*789_*799dup) c.1497_1507dup (p.Tyr503LeufsTer9) c.1392_1402dup (p.Tyr468LeufsTer9) c.1383_1393dup (p.Tyr465LeufsTer9) c.1344_1354dup (p.Tyr452LeufsTer9) c.1290_1300dup (p.Tyr434LeufsTer9) c.1194_1204dup (p.Tyr402LeufsTer9) c.1164_1174dup (p.Tyr392LeufsTer9) c.1089_1099dup (p.Tyr367LeufsTer9) c.987_997dup (p.Tyr333LeufsTer9) c.618_628dup (p.Tyr210LeufsTer9) | |
| 5 | g.112827167A= | CA1573505318 | APC | c.1408+5176A= (n.1408+5176A=) c.1522A= (p.Asn508=) n.1524A= c.*1474A= (n.*1474A=) c.1414A= (p.Asn472=) c.1468A= (p.Asn490=) c.96+5176A= c.157A= (p.Asn53=) c.*790A= (n.*790A=) c.1498A= (p.Asn500=) c.1393A= (p.Asn465=) c.1384A= (p.Asn462=) c.1345A= (p.Asn449=) c.1291A= (p.Asn431=) c.1195A= (p.Asn399=) c.1165A= (p.Asn389=) c.1090A= (p.Asn364=) c.988A= (p.Asn330=) c.619A= (p.Asn207=) | |
| 5 | g.112827167A>C | CA16024516 | APC | c.1408+5176A>C (n.1408+5176A>C) c.1522A>C (p.Asn508His) n.1524A>C c.*1474A>C (n.*1474A>C) c.1414A>C (p.Asn472His) c.1468A>C (p.Asn490His) c.96+5176A>C c.157A>C (p.Asn53His) c.*790A>C (n.*790A>C) c.1498A>C (p.Asn500His) c.1393A>C (p.Asn465His) c.1384A>C (p.Asn462His) c.1345A>C (p.Asn449His) c.1291A>C (p.Asn431His) c.1195A>C (p.Asn399His) c.1165A>C (p.Asn389His) c.1090A>C (p.Asn364His) c.988A>C (p.Asn330His) c.619A>C (p.Asn207His) | |
| 5 | g.112827167A>G | CA16024517 | APC | c.1408+5176A>G (n.1408+5176A>G) c.1522A>G (p.Asn508Asp) n.1524A>G c.*1474A>G (n.*1474A>G) c.1414A>G (p.Asn472Asp) c.1468A>G (p.Asn490Asp) c.96+5176A>G c.157A>G (p.Asn53Asp) c.*790A>G (n.*790A>G) c.1498A>G (p.Asn500Asp) c.1393A>G (p.Asn465Asp) c.1384A>G (p.Asn462Asp) c.1345A>G (p.Asn449Asp) c.1291A>G (p.Asn431Asp) c.1195A>G (p.Asn399Asp) c.1165A>G (p.Asn389Asp) c.1090A>G (p.Asn364Asp) c.988A>G (p.Asn330Asp) c.619A>G (p.Asn207Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112827167A>T | CA16024518 | APC | c.1408+5176A>T (n.1408+5176A>T) c.1522A>T (p.Asn508Tyr) n.1524A>T c.*1474A>T (n.*1474A>T) c.1414A>T (p.Asn472Tyr) c.1468A>T (p.Asn490Tyr) c.96+5176A>T c.157A>T (p.Asn53Tyr) c.*790A>T (n.*790A>T) c.1498A>T (p.Asn500Tyr) c.1393A>T (p.Asn465Tyr) c.1384A>T (p.Asn462Tyr) c.1345A>T (p.Asn449Tyr) c.1291A>T (p.Asn431Tyr) c.1195A>T (p.Asn399Tyr) c.1165A>T (p.Asn389Tyr) c.1090A>T (p.Asn364Tyr) c.988A>T (p.Asn330Tyr) c.619A>T (p.Asn207Tyr) | |
| 5 | g.112827168A>C | CA16024519 | APC | c.1408+5177A>C (n.1408+5177A>C) c.1523A>C (p.Asn508Thr) n.1525A>C c.*1475A>C (n.*1475A>C) c.1415A>C (p.Asn472Thr) c.1469A>C (p.Asn490Thr) c.96+5177A>C c.158A>C (p.Asn53Thr) c.*791A>C (n.*791A>C) c.1499A>C (p.Asn500Thr) c.1394A>C (p.Asn465Thr) c.1385A>C (p.Asn462Thr) c.1346A>C (p.Asn449Thr) c.1292A>C (p.Asn431Thr) c.1196A>C (p.Asn399Thr) c.1166A>C (p.Asn389Thr) c.1091A>C (p.Asn364Thr) c.989A>C (p.Asn330Thr) c.620A>C (p.Asn207Thr) | |
| 5 | g.112827168A>G | CA16024520 | APC | c.1408+5177A>G (n.1408+5177A>G) c.1523A>G (p.Asn508Ser) n.1525A>G c.*1475A>G (n.*1475A>G) c.1415A>G (p.Asn472Ser) c.1469A>G (p.Asn490Ser) c.96+5177A>G c.158A>G (p.Asn53Ser) c.*791A>G (n.*791A>G) c.1499A>G (p.Asn500Ser) c.1394A>G (p.Asn465Ser) c.1385A>G (p.Asn462Ser) c.1346A>G (p.Asn449Ser) c.1292A>G (p.Asn431Ser) c.1196A>G (p.Asn399Ser) c.1166A>G (p.Asn389Ser) c.1091A>G (p.Asn364Ser) c.989A>G (p.Asn330Ser) c.620A>G (p.Asn207Ser) | ClinVar |
| 5 | g.112827168A>T | CA16024521 | APC | c.1408+5177A>T (n.1408+5177A>T) c.1523A>T (p.Asn508Ile) n.1525A>T c.*1475A>T (n.*1475A>T) c.1415A>T (p.Asn472Ile) c.1469A>T (p.Asn490Ile) c.96+5177A>T c.158A>T (p.Asn53Ile) c.*791A>T (n.*791A>T) c.1499A>T (p.Asn500Ile) c.1394A>T (p.Asn465Ile) c.1385A>T (p.Asn462Ile) c.1346A>T (p.Asn449Ile) c.1292A>T (p.Asn431Ile) c.1196A>T (p.Asn399Ile) c.1166A>T (p.Asn389Ile) c.1091A>T (p.Asn364Ile) c.989A>T (p.Asn330Ile) c.620A>T (p.Asn207Ile) | |
| 5 | g.112827168_112827169dup | CA2573138839 | APC | c.1408+5177_1408+5178dup (n.1408+5177_1408+5178dup) c.1523_1524dup (p.Asp509MetfsTer8) n.1525_1526dup c.*1475_*1476dup (n.*1475_*1476dup) c.1415_1416dup (p.Asp473MetfsTer8) c.1469_1470dup (p.Asp491MetfsTer8) c.96+5177_96+5178dup c.158_159dup (p.Asp54MetfsTer8) c.*791_*792dup (n.*791_*792dup) c.1499_1500dup (p.Asp501MetfsTer8) c.1394_1395dup (p.Asp466MetfsTer8) c.1385_1386dup (p.Asp463MetfsTer8) c.1346_1347dup (p.Asp450MetfsTer8) c.1292_1293dup (p.Asp432MetfsTer8) c.1196_1197dup (p.Asp400MetfsTer8) c.1166_1167dup (p.Asp390MetfsTer8) c.1091_1092dup (p.Asp365MetfsTer8) c.989_990dup (p.Asp331MetfsTer8) c.620_621dup (p.Asp208MetfsTer8) | ClinVar dbSNP |
| 5 | g.112827169T>A | CA16024522 | APC | c.1408+5178T>A (n.1408+5178T>A) c.1524T>A (p.Asn508Lys) n.1526T>A c.*1476T>A (n.*1476T>A) c.1416T>A (p.Asn472Lys) c.1470T>A (p.Asn490Lys) c.96+5178T>A c.159T>A (p.Asn53Lys) c.*792T>A (n.*792T>A) c.1500T>A (p.Asn500Lys) c.1395T>A (p.Asn465Lys) c.1386T>A (p.Asn462Lys) c.1347T>A (p.Asn449Lys) c.1293T>A (p.Asn431Lys) c.1197T>A (p.Asn399Lys) c.1167T>A (p.Asn389Lys) c.1092T>A (p.Asn364Lys) c.990T>A (p.Asn330Lys) c.621T>A (p.Asn207Lys) | dbSNP |
| 5 | g.112827169T>C | CA445755940 | APC | c.1408+5178T>C (n.1408+5178T>C) c.1524T>C (p.Asn508=) n.1526T>C c.*1476T>C (n.*1476T>C) c.1416T>C (p.Asn472=) c.1470T>C (p.Asn490=) c.96+5178T>C c.159T>C (p.Asn53=) c.*792T>C (n.*792T>C) c.1500T>C (p.Asn500=) c.1395T>C (p.Asn465=) c.1386T>C (p.Asn462=) c.1347T>C (p.Asn449=) c.1293T>C (p.Asn431=) c.1197T>C (p.Asn399=) c.1167T>C (p.Asn389=) c.1092T>C (p.Asn364=) c.990T>C (p.Asn330=) c.621T>C (p.Asn207=) | |
| 5 | g.112827169T>G | CA16024523 | APC | c.1408+5178T>G (n.1408+5178T>G) c.1524T>G (p.Asn508Lys) n.1526T>G c.*1476T>G (n.*1476T>G) c.1416T>G (p.Asn472Lys) c.1470T>G (p.Asn490Lys) c.96+5178T>G c.159T>G (p.Asn53Lys) c.*792T>G (n.*792T>G) c.1500T>G (p.Asn500Lys) c.1395T>G (p.Asn465Lys) c.1386T>G (p.Asn462Lys) c.1347T>G (p.Asn449Lys) c.1293T>G (p.Asn431Lys) c.1197T>G (p.Asn399Lys) c.1167T>G (p.Asn389Lys) c.1092T>G (p.Asn364Lys) c.990T>G (p.Asn330Lys) c.621T>G (p.Asn207Lys) | |
| 5 | g.112827170G>A | CA16024524 | APC | c.1408+5179G>A (n.1408+5179G>A) c.1525G>A (p.Asp509Asn) n.1527G>A c.*1477G>A (n.*1477G>A) c.1417G>A (p.Asp473Asn) c.1471G>A (p.Asp491Asn) c.96+5179G>A c.160G>A (p.Asp54Asn) c.*793G>A (n.*793G>A) c.1501G>A (p.Asp501Asn) c.1396G>A (p.Asp466Asn) c.1387G>A (p.Asp463Asn) c.1348G>A (p.Asp450Asn) c.1294G>A (p.Asp432Asn) c.1198G>A (p.Asp400Asn) c.1168G>A (p.Asp390Asn) c.1093G>A (p.Asp365Asn) c.991G>A (p.Asp331Asn) c.622G>A (p.Asp208Asn) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112827170G>C | CA16024525 | APC | c.1408+5179G>C (n.1408+5179G>C) c.1525G>C (p.Asp509His) n.1527G>C c.*1477G>C (n.*1477G>C) c.1417G>C (p.Asp473His) c.1471G>C (p.Asp491His) c.96+5179G>C c.160G>C (p.Asp54His) c.*793G>C (n.*793G>C) c.1501G>C (p.Asp501His) c.1396G>C (p.Asp466His) c.1387G>C (p.Asp463His) c.1348G>C (p.Asp450His) c.1294G>C (p.Asp432His) c.1198G>C (p.Asp400His) c.1168G>C (p.Asp390His) c.1093G>C (p.Asp365His) c.991G>C (p.Asp331His) c.622G>C (p.Asp208His) | dbSNP |
| 5 | g.112827170G= | CA1573505329 | APC | c.1408+5179G= (n.1408+5179G=) c.1525G= (p.Asp509=) n.1527G= c.*1477G= (n.*1477G=) c.1417G= (p.Asp473=) c.1471G= (p.Asp491=) c.96+5179G= c.160G= (p.Asp54=) c.*793G= (n.*793G=) c.1501G= (p.Asp501=) c.1396G= (p.Asp466=) c.1387G= (p.Asp463=) c.1348G= (p.Asp450=) c.1294G= (p.Asp432=) c.1198G= (p.Asp400=) c.1168G= (p.Asp390=) c.1093G= (p.Asp365=) c.991G= (p.Asp331=) c.622G= (p.Asp208=) | |
| 5 | g.112827170G>T | CA16024526 | APC | c.1408+5179G>T (n.1408+5179G>T) c.1525G>T (p.Asp509Tyr) n.1527G>T c.*1477G>T (n.*1477G>T) c.1417G>T (p.Asp473Tyr) c.1471G>T (p.Asp491Tyr) c.96+5179G>T c.160G>T (p.Asp54Tyr) c.*793G>T (n.*793G>T) c.1501G>T (p.Asp501Tyr) c.1396G>T (p.Asp466Tyr) c.1387G>T (p.Asp463Tyr) c.1348G>T (p.Asp450Tyr) c.1294G>T (p.Asp432Tyr) c.1198G>T (p.Asp400Tyr) c.1168G>T (p.Asp390Tyr) c.1093G>T (p.Asp365Tyr) c.991G>T (p.Asp331Tyr) c.622G>T (p.Asp208Tyr) | ClinVar gnomAD v4 |
| 5 | g.112827170_112827177dup | CA645562789 | APC | c.1408+5179_1408+5186dup (n.1408+5179_1408+5186dup) c.1525_1532dup (p.Tyr511Ter) n.1527_1534dup c.*1477_*1484dup (n.*1477_*1484dup) c.1417_1424dup (p.Tyr475Ter) c.1471_1478dup (p.Tyr493Ter) c.96+5179_96+5186dup c.160_167dup (p.Tyr56Ter) c.*793_*800dup (n.*793_*800dup) c.1501_1508dup (p.Tyr503Ter) c.1396_1403dup (p.Tyr468Ter) c.1387_1394dup (p.Tyr465Ter) c.1348_1355dup (p.Tyr452Ter) c.1294_1301dup (p.Tyr434Ter) c.1198_1205dup (p.Tyr402Ter) c.1168_1175dup (p.Tyr392Ter) c.1093_1100dup (p.Tyr367Ter) c.991_998dup (p.Tyr333Ter) c.622_629dup (p.Tyr210Ter) | COSMIC |
| 5 | g.112827171A= | CA1573505335 | APC | c.1408+5180A= (n.1408+5180A=) c.1526A= (p.Asp509=) n.1528A= c.*1478A= (n.*1478A=) c.1418A= (p.Asp473=) c.1472A= (p.Asp491=) c.96+5180A= c.161A= (p.Asp54=) c.*794A= (n.*794A=) c.1502A= (p.Asp501=) c.1397A= (p.Asp466=) c.1388A= (p.Asp463=) c.1349A= (p.Asp450=) c.1295A= (p.Asp432=) c.1199A= (p.Asp400=) c.1169A= (p.Asp390=) c.1094A= (p.Asp365=) c.992A= (p.Asp331=) c.623A= (p.Asp208=) | |
| 5 | g.112827171A>C | CA16024527 | APC | c.1408+5180A>C (n.1408+5180A>C) c.1526A>C (p.Asp509Ala) n.1528A>C c.*1478A>C (n.*1478A>C) c.1418A>C (p.Asp473Ala) c.1472A>C (p.Asp491Ala) c.96+5180A>C c.161A>C (p.Asp54Ala) c.*794A>C (n.*794A>C) c.1502A>C (p.Asp501Ala) c.1397A>C (p.Asp466Ala) c.1388A>C (p.Asp463Ala) c.1349A>C (p.Asp450Ala) c.1295A>C (p.Asp432Ala) c.1199A>C (p.Asp400Ala) c.1169A>C (p.Asp390Ala) c.1094A>C (p.Asp365Ala) c.992A>C (p.Asp331Ala) c.623A>C (p.Asp208Ala) | |
| 5 | g.112827171A>G | CA16024528 | APC | c.1408+5180A>G (n.1408+5180A>G) c.1526A>G (p.Asp509Gly) n.1528A>G c.*1478A>G (n.*1478A>G) c.1418A>G (p.Asp473Gly) c.1472A>G (p.Asp491Gly) c.96+5180A>G c.161A>G (p.Asp54Gly) c.*794A>G (n.*794A>G) c.1502A>G (p.Asp501Gly) c.1397A>G (p.Asp466Gly) c.1388A>G (p.Asp463Gly) c.1349A>G (p.Asp450Gly) c.1295A>G (p.Asp432Gly) c.1199A>G (p.Asp400Gly) c.1169A>G (p.Asp390Gly) c.1094A>G (p.Asp365Gly) c.992A>G (p.Asp331Gly) c.623A>G (p.Asp208Gly) | |
| 5 | g.112827171A>T | CA16024529 | APC | c.1408+5180A>T (n.1408+5180A>T) c.1526A>T (p.Asp509Val) n.1528A>T c.*1478A>T (n.*1478A>T) c.1418A>T (p.Asp473Val) c.1472A>T (p.Asp491Val) c.96+5180A>T c.161A>T (p.Asp54Val) c.*794A>T (n.*794A>T) c.1502A>T (p.Asp501Val) c.1397A>T (p.Asp466Val) c.1388A>T (p.Asp463Val) c.1349A>T (p.Asp450Val) c.1295A>T (p.Asp432Val) c.1199A>T (p.Asp400Val) c.1169A>T (p.Asp390Val) c.1094A>T (p.Asp365Val) c.992A>T (p.Asp331Val) c.623A>T (p.Asp208Val) | dbSNP |
| 5 | g.112827171_112827172dup | CA2695202736 | APC | c.1408+5180_1408+5181dup (n.1408+5180_1408+5181dup) c.1526_1527dup (p.His510ThrfsTer7) n.1528_1529dup c.*1478_*1479dup (n.*1478_*1479dup) c.1418_1419dup (p.His474ThrfsTer7) c.1472_1473dup (p.His492ThrfsTer7) c.96+5180_96+5181dup c.161_162dup (p.His55ThrfsTer7) c.*794_*795dup (n.*794_*795dup) c.1502_1503dup (p.His502ThrfsTer7) c.1397_1398dup (p.His467ThrfsTer7) c.1388_1389dup (p.His464ThrfsTer7) c.1349_1350dup (p.His451ThrfsTer7) c.1295_1296dup (p.His433ThrfsTer7) c.1199_1200dup (p.His401ThrfsTer7) c.1169_1170dup (p.His391ThrfsTer7) c.1094_1095dup (p.His366ThrfsTer7) c.992_993dup (p.His332ThrfsTer7) c.623_624dup (p.His209ThrfsTer7) | ClinVar |
| 5 | g.112827173_112827186del | CA2580072265 | APC | c.1408+5182_1408+5195del (n.1408+5182_1408+5195del) c.1528_1541del (p.His510ThrfsTer?) n.1530_1543del c.*1480_*1493del (n.*1480_*1493del) c.1420_1433del (p.His474ThrfsTer?) c.1474_1487del (p.His492ThrfsTer?) c.96+5182_96+5195del c.163_176del (p.His55ThrfsTer?) c.*796_*809del (n.*796_*809del) c.1504_1517del (p.His502ThrfsTer?) c.1399_1412del (p.His467ThrfsTer?) c.1390_1403del (p.His464ThrfsTer?) c.1351_1364del (p.His451ThrfsTer?) c.1297_1310del (p.His433ThrfsTer?) c.1201_1214del (p.His401ThrfsTer?) c.1171_1184del (p.His391ThrfsTer?) c.1096_1109del (p.His366ThrfsTer?) c.994_1007del (p.His332ThrfsTer?) c.625_638del (p.His209ThrfsTer?) | ClinVar |
| 5 | g.112827172C>A | CA16024530 | APC | c.1408+5181C>A (n.1408+5181C>A) c.1527C>A (p.Asp509Glu) n.1529C>A c.*1479C>A (n.*1479C>A) c.1419C>A (p.Asp473Glu) c.1473C>A (p.Asp491Glu) c.96+5181C>A c.162C>A (p.Asp54Glu) c.*795C>A (n.*795C>A) c.1503C>A (p.Asp501Glu) c.1398C>A (p.Asp466Glu) c.1389C>A (p.Asp463Glu) c.1350C>A (p.Asp450Glu) c.1296C>A (p.Asp432Glu) c.1200C>A (p.Asp400Glu) c.1170C>A (p.Asp390Glu) c.1095C>A (p.Asp365Glu) c.993C>A (p.Asp331Glu) c.624C>A (p.Asp208Glu) | dbSNP |
| 5 | g.112827172C>G | CA16024531 | APC | c.1408+5181C>G (n.1408+5181C>G) c.1527C>G (p.Asp509Glu) n.1529C>G c.*1479C>G (n.*1479C>G) c.1419C>G (p.Asp473Glu) c.1473C>G (p.Asp491Glu) c.96+5181C>G c.162C>G (p.Asp54Glu) c.*795C>G (n.*795C>G) c.1503C>G (p.Asp501Glu) c.1398C>G (p.Asp466Glu) c.1389C>G (p.Asp463Glu) c.1350C>G (p.Asp450Glu) c.1296C>G (p.Asp432Glu) c.1200C>G (p.Asp400Glu) c.1170C>G (p.Asp390Glu) c.1095C>G (p.Asp365Glu) c.993C>G (p.Asp331Glu) c.624C>G (p.Asp208Glu) | ClinVar dbSNP |
| 5 | g.112827172C>T | CA445755949 | APC | c.1408+5181C>T (n.1408+5181C>T) c.1527C>T (p.Asp509=) n.1529C>T c.*1479C>T (n.*1479C>T) c.1419C>T (p.Asp473=) c.1473C>T (p.Asp491=) c.96+5181C>T c.162C>T (p.Asp54=) c.*795C>T (n.*795C>T) c.1503C>T (p.Asp501=) c.1398C>T (p.Asp466=) c.1389C>T (p.Asp463=) c.1350C>T (p.Asp450=) c.1296C>T (p.Asp432=) c.1200C>T (p.Asp400=) c.1170C>T (p.Asp390=) c.1095C>T (p.Asp365=) c.993C>T (p.Asp331=) c.624C>T (p.Asp208=) | dbSNP |
| 5 | g.112827172_112827173dup | CA913189190 | APC | c.1408+5181_1408+5182dup (n.1408+5181_1408+5182dup) c.1527_1528dup (p.His510ProfsTer7) n.1529_1530dup c.*1479_*1480dup (n.*1479_*1480dup) c.1419_1420dup (p.His474ProfsTer7) c.1473_1474dup (p.His492ProfsTer7) c.96+5181_96+5182dup c.162_163dup (p.His55ProfsTer7) c.*795_*796dup (n.*795_*796dup) c.1503_1504dup (p.His502ProfsTer7) c.1398_1399dup (p.His467ProfsTer7) c.1389_1390dup (p.His464ProfsTer7) c.1350_1351dup (p.His451ProfsTer7) c.1296_1297dup (p.His433ProfsTer7) c.1200_1201dup (p.His401ProfsTer7) c.1170_1171dup (p.His391ProfsTer7) c.1095_1096dup (p.His366ProfsTer7) c.993_994dup (p.His332ProfsTer7) c.624_625dup (p.His209ProfsTer7) | |
| 5 | g.112827173del | CA2709973344 | APC | c.1408+5182del (n.1408+5182del) c.1528del (p.His510ThrfsTer6) n.1530del c.*1480del (n.*1480del) c.1420del (p.His474ThrfsTer6) c.1474del (p.His492ThrfsTer6) c.96+5182del c.163del (p.His55ThrfsTer6) c.*796del (n.*796del) c.1504del (p.His502ThrfsTer6) c.1399del (p.His467ThrfsTer6) c.1390del (p.His464ThrfsTer6) c.1351del (p.His451ThrfsTer6) c.1297del (p.His433ThrfsTer6) c.1201del (p.His401ThrfsTer6) c.1171del (p.His391ThrfsTer6) c.1096del (p.His366ThrfsTer6) c.994del (p.His332ThrfsTer6) c.625del (p.His209ThrfsTer6) | dbSNP |
| 5 | g.112827173C>A | CA16024532 | APC | c.1408+5182C>A (n.1408+5182C>A) c.1528C>A (p.His510Asn) n.1530C>A c.*1480C>A (n.*1480C>A) c.1420C>A (p.His474Asn) c.1474C>A (p.His492Asn) c.96+5182C>A c.163C>A (p.His55Asn) c.*796C>A (n.*796C>A) c.1504C>A (p.His502Asn) c.1399C>A (p.His467Asn) c.1390C>A (p.His464Asn) c.1351C>A (p.His451Asn) c.1297C>A (p.His433Asn) c.1201C>A (p.His401Asn) c.1171C>A (p.His391Asn) c.1096C>A (p.His366Asn) c.994C>A (p.His332Asn) c.625C>A (p.His209Asn) | |
| 5 | g.112827173C= | CA1573505339 | APC | c.1408+5182C= (n.1408+5182C=) c.1528C= (p.His510=) n.1530C= c.*1480C= (n.*1480C=) c.1420C= (p.His474=) c.1474C= (p.His492=) c.96+5182C= c.163C= (p.His55=) c.*796C= (n.*796C=) c.1504C= (p.His502=) c.1399C= (p.His467=) c.1390C= (p.His464=) c.1351C= (p.His451=) c.1297C= (p.His433=) c.1201C= (p.His401=) c.1171C= (p.His391=) c.1096C= (p.His366=) c.994C= (p.His332=) c.625C= (p.His209=) | |
| 5 | g.112827173C>G | CA16024533 | APC | c.1408+5182C>G (n.1408+5182C>G) c.1528C>G (p.His510Asp) n.1530C>G c.*1480C>G (n.*1480C>G) c.1420C>G (p.His474Asp) c.1474C>G (p.His492Asp) c.96+5182C>G c.163C>G (p.His55Asp) c.*796C>G (n.*796C>G) c.1504C>G (p.His502Asp) c.1399C>G (p.His467Asp) c.1390C>G (p.His464Asp) c.1351C>G (p.His451Asp) c.1297C>G (p.His433Asp) c.1201C>G (p.His401Asp) c.1171C>G (p.His391Asp) c.1096C>G (p.His366Asp) c.994C>G (p.His332Asp) c.625C>G (p.His209Asp) | |
| 5 | g.112827173C>T | CA16024534 | APC | c.1408+5182C>T (n.1408+5182C>T) c.1528C>T (p.His510Tyr) n.1530C>T c.*1480C>T (n.*1480C>T) c.1420C>T (p.His474Tyr) c.1474C>T (p.His492Tyr) c.96+5182C>T c.163C>T (p.His55Tyr) c.*796C>T (n.*796C>T) c.1504C>T (p.His502Tyr) c.1399C>T (p.His467Tyr) c.1390C>T (p.His464Tyr) c.1351C>T (p.His451Tyr) c.1297C>T (p.His433Tyr) c.1201C>T (p.His401Tyr) c.1171C>T (p.His391Tyr) c.1096C>T (p.His366Tyr) c.994C>T (p.His332Tyr) c.625C>T (p.His209Tyr) | ClinVar dbSNP |
| 5 | g.112827174A= | CA1573505346 | APC | c.1408+5183A= (n.1408+5183A=) c.1529A= (p.His510=) n.1531A= c.*1481A= (n.*1481A=) c.1421A= (p.His474=) c.1475A= (p.His492=) c.96+5183A= c.164A= (p.His55=) c.*797A= (n.*797A=) c.1505A= (p.His502=) c.1400A= (p.His467=) c.1391A= (p.His464=) c.1352A= (p.His451=) c.1298A= (p.His433=) c.1202A= (p.His401=) c.1172A= (p.His391=) c.1097A= (p.His366=) c.995A= (p.His332=) c.626A= (p.His209=) | |
| 5 | g.112827174A>C | CA16024535 | APC | c.1408+5183A>C (n.1408+5183A>C) c.1529A>C (p.His510Pro) n.1531A>C c.*1481A>C (n.*1481A>C) c.1421A>C (p.His474Pro) c.1475A>C (p.His492Pro) c.96+5183A>C c.164A>C (p.His55Pro) c.*797A>C (n.*797A>C) c.1505A>C (p.His502Pro) c.1400A>C (p.His467Pro) c.1391A>C (p.His464Pro) c.1352A>C (p.His451Pro) c.1298A>C (p.His433Pro) c.1202A>C (p.His401Pro) c.1172A>C (p.His391Pro) c.1097A>C (p.His366Pro) c.995A>C (p.His332Pro) c.626A>C (p.His209Pro) | |
| 5 | g.112827174A>G | CA16024536 | APC | c.1408+5183A>G (n.1408+5183A>G) c.1529A>G (p.His510Arg) n.1531A>G c.*1481A>G (n.*1481A>G) c.1421A>G (p.His474Arg) c.1475A>G (p.His492Arg) c.96+5183A>G c.164A>G (p.His55Arg) c.*797A>G (n.*797A>G) c.1505A>G (p.His502Arg) c.1400A>G (p.His467Arg) c.1391A>G (p.His464Arg) c.1352A>G (p.His451Arg) c.1298A>G (p.His433Arg) c.1202A>G (p.His401Arg) c.1172A>G (p.His391Arg) c.1097A>G (p.His366Arg) c.995A>G (p.His332Arg) c.626A>G (p.His209Arg) | ClinVar dbSNP gnomAD v4 |