| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112834949_112835166del | CA2499217458 | APC | c.1409-2_1623+1del c.1798-2_2012+1del c.*1750-2_*1964+1del c.1690-2_1904+1del c.1744-2_1958+1del c.97-2_311+1del c.433-2_647+1del c.*1066-2_*1280+1del c.230+5977_230+6194del c.1774-2_1988+1del c.1669-2_1883+1del c.1660-2_1874+1del c.1621-2_1835+1del c.1567-2_1781+1del c.1471-2_1685+1del c.1441-2_1655+1del c.1366-2_1580+1del c.1264-2_1478+1del c.895-2_1109+1del | ClinVar dbSNP |
| 5 | g.112834952_112835166del | CA658683035 | APC | c.1410_1623+1del c.1799_2012+1del c.*1751_*1964+1del c.1691_1904+1del c.1745_1958+1del c.98_311+1del c.434_647+1del c.*1067_*1280+1del c.230+5980_230+6194del c.1775_1988+1del c.1670_1883+1del c.1661_1874+1del c.1622_1835+1del c.1568_1781+1del c.1472_1685+1del c.1442_1655+1del c.1367_1580+1del c.1265_1478+1del c.896_1109+1del | |
| 5 | g.112835058_112835074delinsTGGCACTCTTACTTACC | CA1573470948 | APC | c.1516_1532delinsTGGCACTCTTACTTACC (n.1516_1532delinsTGGCACTCTTACTTACC) c.1905_1921delinsTGGCACTCTTACTTACC (p.Val635=) c.*1857_*1873delinsTGGCACTCTTACTTACC (n.*1857_*1873delinsTGGCACTCTTACTTACC) c.1797_1813delinsTGGCACTCTTACTTACC (p.Val599=) c.1851_1867delinsTGGCACTCTTACTTACC (p.Val617=) c.204_220delinsTGGCACTCTTACTTACC c.540_556delinsTGGCACTCTTACTTACC (p.Val180=) c.*1173_*1189delinsTGGCACTCTTACTTACC (n.*1173_*1189delinsTGGCACTCTTACTTACC) c.230+6086_230+6102delinsTGGCACTCTTACTTACC c.1881_1897delinsTGGCACTCTTACTTACC (p.Val627=) c.1776_1792delinsTGGCACTCTTACTTACC (p.Val592=) c.1767_1783delinsTGGCACTCTTACTTACC (p.Val589=) c.1728_1744delinsTGGCACTCTTACTTACC (p.Val576=) c.1674_1690delinsTGGCACTCTTACTTACC (p.Val558=) c.1578_1594delinsTGGCACTCTTACTTACC (p.Val526=) c.1548_1564delinsTGGCACTCTTACTTACC (p.Val516=) c.1473_1489delinsTGGCACTCTTACTTACC (p.Val491=) c.1371_1387delinsTGGCACTCTTACTTACC (p.Val457=) c.1002_1018delinsTGGCACTCTTACTTACC (p.Val334=) | |
| 5 | g.112835061_112835076del | CA658760587 | APC | c.1519_1534del (n.1519_1534del) c.1908_1923del (p.Thr637AlafsTer6) c.*1860_*1875del (n.*1860_*1875del) c.1800_1815del (p.Thr601AlafsTer6) c.1854_1869del (p.Thr619AlafsTer6) c.207_222del c.543_558del (p.Thr182AlafsTer6) c.*1176_*1191del (n.*1176_*1191del) c.230+6089_230+6104del c.1884_1899del (p.Thr629AlafsTer6) c.1779_1794del (p.Thr594AlafsTer6) c.1770_1785del (p.Thr591AlafsTer6) c.1731_1746del (p.Thr578AlafsTer6) c.1677_1692del (p.Thr560AlafsTer6) c.1581_1596del (p.Thr528AlafsTer6) c.1551_1566del (p.Thr518AlafsTer6) c.1476_1491del (p.Thr493AlafsTer6) c.1374_1389del (p.Thr459AlafsTer6) c.1005_1020del (p.Thr336AlafsTer6) | ClinVar dbSNP |
| 5 | g.112835070_112835073dup | CA658760592 | APC | c.1528_1531dup (n.1528_1531dup) c.1917_1920dup (p.Arg641LeufsTer12) c.*1869_*1872dup (n.*1869_*1872dup) c.1809_1812dup (p.Arg605LeufsTer12) c.1863_1866dup (p.Arg623LeufsTer12) c.216_219dup c.552_555dup (p.Arg186LeufsTer12) c.*1185_*1188dup (n.*1185_*1188dup) c.230+6098_230+6101dup c.1893_1896dup (p.Arg633LeufsTer12) c.1788_1791dup (p.Arg598LeufsTer12) c.1779_1782dup (p.Arg595LeufsTer12) c.1740_1743dup (p.Arg582LeufsTer12) c.1686_1689dup (p.Arg564LeufsTer12) c.1590_1593dup (p.Arg532LeufsTer12) c.1560_1563dup (p.Arg522LeufsTer12) c.1485_1488dup (p.Arg497LeufsTer12) c.1383_1386dup (p.Arg463LeufsTer12) c.1014_1017dup (p.Arg340LeufsTer12) | |
| 5 | g.112835070_112835073del | CA645562817 | APC | c.1528_1531del (n.1528_1531del) c.1917_1920del (p.Tyr640GlyfsTer7) c.*1869_*1872del (n.*1869_*1872del) c.1809_1812del (p.Tyr604GlyfsTer7) c.1863_1866del (p.Tyr622GlyfsTer7) c.216_219del c.552_555del (p.Tyr185GlyfsTer7) c.*1185_*1188del (n.*1185_*1188del) c.230+6098_230+6101del c.1893_1896del (p.Tyr632GlyfsTer7) c.1788_1791del (p.Tyr597GlyfsTer7) c.1779_1782del (p.Tyr594GlyfsTer7) c.1740_1743del (p.Tyr581GlyfsTer7) c.1686_1689del (p.Tyr563GlyfsTer7) c.1590_1593del (p.Tyr531GlyfsTer7) c.1560_1563del (p.Tyr521GlyfsTer7) c.1485_1488del (p.Tyr496GlyfsTer7) c.1383_1386del (p.Tyr462GlyfsTer7) c.1014_1017del (p.Tyr339GlyfsTer7) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.112835068_112835069delinsAC | CA1573471025 | APC | c.1526_1527delinsAC (n.1526_1527delinsAC) c.1915_1916delinsAC (p.Thr639=) c.*1867_*1868delinsAC (n.*1867_*1868delinsAC) c.1807_1808delinsAC (p.Thr603=) c.1861_1862delinsAC (p.Thr621=) c.214_215delinsAC c.550_551delinsAC (p.Thr184=) c.*1183_*1184delinsAC (n.*1183_*1184delinsAC) c.230+6096_230+6097delinsAC c.1891_1892delinsAC (p.Thr631=) c.1786_1787delinsAC (p.Thr596=) c.1777_1778delinsAC (p.Thr593=) c.1738_1739delinsAC (p.Thr580=) c.1684_1685delinsAC (p.Thr562=) c.1588_1589delinsAC (p.Thr530=) c.1558_1559delinsAC (p.Thr520=) c.1483_1484delinsAC (p.Thr495=) c.1381_1382delinsAC (p.Thr461=) c.1012_1013delinsAC (p.Thr338=) | |
| 5 | g.112835069del | CA16618075 | APC | c.1527del (n.1527del) c.1916del (p.Thr639IlefsTer9) c.*1868del (n.*1868del) c.1808del (p.Thr603IlefsTer9) c.1862del (p.Thr621IlefsTer9) c.215del c.551del (p.Thr184IlefsTer9) c.*1184del (n.*1184del) c.230+6097del c.1892del (p.Thr631IlefsTer9) c.1787del (p.Thr596IlefsTer9) c.1778del (p.Thr593IlefsTer9) c.1739del (p.Thr580IlefsTer9) c.1685del (p.Thr562IlefsTer9) c.1589del (p.Thr530IlefsTer9) c.1559del (p.Thr520IlefsTer9) c.1484del (p.Thr495IlefsTer9) c.1382del (p.Thr461IlefsTer9) c.1013del (p.Thr338IlefsTer9) | ClinVar dbSNP |
| 5 | g.112835069C>A | CA16025393 | APC | c.1527C>A (n.1527C>A) c.1916C>A (p.Thr639Asn) c.*1868C>A (n.*1868C>A) c.1808C>A (p.Thr603Asn) c.1862C>A (p.Thr621Asn) c.215C>A c.551C>A (p.Thr184Asn) c.*1184C>A (n.*1184C>A) c.230+6097C>A c.1892C>A (p.Thr631Asn) c.1787C>A (p.Thr596Asn) c.1778C>A (p.Thr593Asn) c.1739C>A (p.Thr580Asn) c.1685C>A (p.Thr562Asn) c.1589C>A (p.Thr530Asn) c.1559C>A (p.Thr520Asn) c.1484C>A (p.Thr495Asn) c.1382C>A (p.Thr461Asn) c.1013C>A (p.Thr338Asn) | dbSNP |
| 5 | g.112835069C= | CA1573471042 | APC | c.1527C= (n.1527C=) c.1916C= (p.Thr639=) c.*1868C= (n.*1868C=) c.1808C= (p.Thr603=) c.1862C= (p.Thr621=) c.215C= c.551C= (p.Thr184=) c.*1184C= (n.*1184C=) c.230+6097C= c.1892C= (p.Thr631=) c.1787C= (p.Thr596=) c.1778C= (p.Thr593=) c.1739C= (p.Thr580=) c.1685C= (p.Thr562=) c.1589C= (p.Thr530=) c.1559C= (p.Thr520=) c.1484C= (p.Thr495=) c.1382C= (p.Thr461=) c.1013C= (p.Thr338=) | |
| 5 | g.112835069C>G | CA16025394 | APC | c.1527C>G (n.1527C>G) c.1916C>G (p.Thr639Ser) c.*1868C>G (n.*1868C>G) c.1808C>G (p.Thr603Ser) c.1862C>G (p.Thr621Ser) c.215C>G c.551C>G (p.Thr184Ser) c.*1184C>G (n.*1184C>G) c.230+6097C>G c.1892C>G (p.Thr631Ser) c.1787C>G (p.Thr596Ser) c.1778C>G (p.Thr593Ser) c.1739C>G (p.Thr580Ser) c.1685C>G (p.Thr562Ser) c.1589C>G (p.Thr530Ser) c.1559C>G (p.Thr520Ser) c.1484C>G (p.Thr495Ser) c.1382C>G (p.Thr461Ser) c.1013C>G (p.Thr338Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835069C>T | CA16025395 | APC | c.1527C>T (n.1527C>T) c.1916C>T (p.Thr639Ile) c.*1868C>T (n.*1868C>T) c.1808C>T (p.Thr603Ile) c.1862C>T (p.Thr621Ile) c.215C>T c.551C>T (p.Thr184Ile) c.*1184C>T (n.*1184C>T) c.230+6097C>T c.1892C>T (p.Thr631Ile) c.1787C>T (p.Thr596Ile) c.1778C>T (p.Thr593Ile) c.1739C>T (p.Thr580Ile) c.1685C>T (p.Thr562Ile) c.1589C>T (p.Thr530Ile) c.1559C>T (p.Thr520Ile) c.1484C>T (p.Thr495Ile) c.1382C>T (p.Thr461Ile) c.1013C>T (p.Thr338Ile) | ClinVar dbSNP |
| 5 | g.112835070T>A | CA445758890 | APC | c.1528T>A (n.1528T>A) c.1917T>A (p.Thr639=) c.*1869T>A (n.*1869T>A) c.1809T>A (p.Thr603=) c.1863T>A (p.Thr621=) c.216T>A c.552T>A (p.Thr184=) c.*1185T>A (n.*1185T>A) c.230+6098T>A c.1893T>A (p.Thr631=) c.1788T>A (p.Thr596=) c.1779T>A (p.Thr593=) c.1740T>A (p.Thr580=) c.1686T>A (p.Thr562=) c.1590T>A (p.Thr530=) c.1560T>A (p.Thr520=) c.1485T>A (p.Thr495=) c.1383T>A (p.Thr461=) c.1014T>A (p.Thr338=) | dbSNP |
| 5 | g.112835070T>C | CA006193 | APC | c.1528T>C (n.1528T>C) c.1917T>C (p.Thr639=) c.*1869T>C (n.*1869T>C) c.1809T>C (p.Thr603=) c.1863T>C (p.Thr621=) c.216T>C c.552T>C (p.Thr184=) c.*1185T>C (n.*1185T>C) c.230+6098T>C c.1893T>C (p.Thr631=) c.1788T>C (p.Thr596=) c.1779T>C (p.Thr593=) c.1740T>C (p.Thr580=) c.1686T>C (p.Thr562=) c.1590T>C (p.Thr530=) c.1560T>C (p.Thr520=) c.1485T>C (p.Thr495=) c.1383T>C (p.Thr461=) c.1014T>C (p.Thr338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112835070T>G | CA445758891 | APC | c.1528T>G (n.1528T>G) c.1917T>G (p.Thr639=) c.*1869T>G (n.*1869T>G) c.1809T>G (p.Thr603=) c.1863T>G (p.Thr621=) c.216T>G c.552T>G (p.Thr184=) c.*1185T>G (n.*1185T>G) c.230+6098T>G c.1893T>G (p.Thr631=) c.1788T>G (p.Thr596=) c.1779T>G (p.Thr593=) c.1740T>G (p.Thr580=) c.1686T>G (p.Thr562=) c.1590T>G (p.Thr530=) c.1560T>G (p.Thr520=) c.1485T>G (p.Thr495=) c.1383T>G (p.Thr461=) c.1014T>G (p.Thr338=) | |
| 5 | g.112835070T= | CA1573471051 | APC | c.1528T= (n.1528T=) c.1917T= (p.Thr639=) c.*1869T= (n.*1869T=) c.1809T= (p.Thr603=) c.1863T= (p.Thr621=) c.216T= c.552T= (p.Thr184=) c.*1185T= (n.*1185T=) c.230+6098T= c.1893T= (p.Thr631=) c.1788T= (p.Thr596=) c.1779T= (p.Thr593=) c.1740T= (p.Thr580=) c.1686T= (p.Thr562=) c.1590T= (p.Thr530=) c.1560T= (p.Thr520=) c.1485T= (p.Thr495=) c.1383T= (p.Thr461=) c.1014T= (p.Thr338=) | |
| 5 | g.112835070_112835072delinsCT | CA658760597 | APC | c.1528_1530delinsCT (n.1528_1530delinsCT) c.1917_1919delinsCT (p.Tyr640SerfsTer8) c.*1869_*1871delinsCT (n.*1869_*1871delinsCT) c.1809_1811delinsCT (p.Tyr604SerfsTer8) c.1863_1865delinsCT (p.Tyr622SerfsTer8) c.216_218delinsCT c.552_554delinsCT (p.Tyr185SerfsTer8) c.*1185_*1187delinsCT (n.*1185_*1187delinsCT) c.230+6098_230+6100delinsCT c.1893_1895delinsCT (p.Tyr632SerfsTer8) c.1788_1790delinsCT (p.Tyr597SerfsTer8) c.1779_1781delinsCT (p.Tyr594SerfsTer8) c.1740_1742delinsCT (p.Tyr581SerfsTer8) c.1686_1688delinsCT (p.Tyr563SerfsTer8) c.1590_1592delinsCT (p.Tyr531SerfsTer8) c.1560_1562delinsCT (p.Tyr521SerfsTer8) c.1485_1487delinsCT (p.Tyr496SerfsTer8) c.1383_1385delinsCT (p.Tyr462SerfsTer8) c.1014_1016delinsCT (p.Tyr339SerfsTer8) | |
| 5 | g.112835071T>A | CA16025396 | APC | c.1529T>A (n.1529T>A) c.1918T>A (p.Tyr640Asn) c.*1870T>A (n.*1870T>A) c.1810T>A (p.Tyr604Asn) c.1864T>A (p.Tyr622Asn) c.217T>A c.553T>A (p.Tyr185Asn) c.*1186T>A (n.*1186T>A) c.230+6099T>A c.1894T>A (p.Tyr632Asn) c.1789T>A (p.Tyr597Asn) c.1780T>A (p.Tyr594Asn) c.1741T>A (p.Tyr581Asn) c.1687T>A (p.Tyr563Asn) c.1591T>A (p.Tyr531Asn) c.1561T>A (p.Tyr521Asn) c.1486T>A (p.Tyr496Asn) c.1384T>A (p.Tyr462Asn) c.1015T>A (p.Tyr339Asn) | dbSNP |
| 5 | g.112835071T>C | CA16025397 | APC | c.1529T>C (n.1529T>C) c.1918T>C (p.Tyr640His) c.*1870T>C (n.*1870T>C) c.1810T>C (p.Tyr604His) c.1864T>C (p.Tyr622His) c.217T>C c.553T>C (p.Tyr185His) c.*1186T>C (n.*1186T>C) c.230+6099T>C c.1894T>C (p.Tyr632His) c.1789T>C (p.Tyr597His) c.1780T>C (p.Tyr594His) c.1741T>C (p.Tyr581His) c.1687T>C (p.Tyr563His) c.1591T>C (p.Tyr531His) c.1561T>C (p.Tyr521His) c.1486T>C (p.Tyr496His) c.1384T>C (p.Tyr462His) c.1015T>C (p.Tyr339His) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835071T>G | CA16025398 | APC | c.1529T>G (n.1529T>G) c.1918T>G (p.Tyr640Asp) c.*1870T>G (n.*1870T>G) c.1810T>G (p.Tyr604Asp) c.1864T>G (p.Tyr622Asp) c.217T>G c.553T>G (p.Tyr185Asp) c.*1186T>G (n.*1186T>G) c.230+6099T>G c.1894T>G (p.Tyr632Asp) c.1789T>G (p.Tyr597Asp) c.1780T>G (p.Tyr594Asp) c.1741T>G (p.Tyr581Asp) c.1687T>G (p.Tyr563Asp) c.1591T>G (p.Tyr531Asp) c.1561T>G (p.Tyr521Asp) c.1486T>G (p.Tyr496Asp) c.1384T>G (p.Tyr462Asp) c.1015T>G (p.Tyr339Asp) | |
| 5 | g.112835071T= | CA1573471056 | APC | c.1529T= (n.1529T=) c.1918T= (p.Tyr640=) c.*1870T= (n.*1870T=) c.1810T= (p.Tyr604=) c.1864T= (p.Tyr622=) c.217T= c.553T= (p.Tyr185=) c.*1186T= (n.*1186T=) c.230+6099T= c.1894T= (p.Tyr632=) c.1789T= (p.Tyr597=) c.1780T= (p.Tyr594=) c.1741T= (p.Tyr581=) c.1687T= (p.Tyr563=) c.1591T= (p.Tyr531=) c.1561T= (p.Tyr521=) c.1486T= (p.Tyr496=) c.1384T= (p.Tyr462=) c.1015T= (p.Tyr339=) | |
| 5 | g.112835072del | CA658760598 | APC | c.1530del (n.1530del) c.1919del (p.Tyr640SerfsTer8) c.*1871del (n.*1871del) c.1811del (p.Tyr604SerfsTer8) c.1865del (p.Tyr622SerfsTer8) c.218del c.554del (p.Tyr185SerfsTer8) c.*1187del (n.*1187del) c.230+6100del c.1895del (p.Tyr632SerfsTer8) c.1790del (p.Tyr597SerfsTer8) c.1781del (p.Tyr594SerfsTer8) c.1742del (p.Tyr581SerfsTer8) c.1688del (p.Tyr563SerfsTer8) c.1592del (p.Tyr531SerfsTer8) c.1562del (p.Tyr521SerfsTer8) c.1487del (p.Tyr496SerfsTer8) c.1385del (p.Tyr462SerfsTer8) c.1016del (p.Tyr339SerfsTer8) | |
| 5 | g.112835072A= | CA1573471063 | APC | c.1530A= (n.1530A=) c.1919A= (p.Tyr640=) c.*1871A= (n.*1871A=) c.1811A= (p.Tyr604=) c.1865A= (p.Tyr622=) c.218A= c.554A= (p.Tyr185=) c.*1187A= (n.*1187A=) c.230+6100A= c.1895A= (p.Tyr632=) c.1790A= (p.Tyr597=) c.1781A= (p.Tyr594=) c.1742A= (p.Tyr581=) c.1688A= (p.Tyr563=) c.1592A= (p.Tyr531=) c.1562A= (p.Tyr521=) c.1487A= (p.Tyr496=) c.1385A= (p.Tyr462=) c.1016A= (p.Tyr339=) | |
| 5 | g.112835072A>C | CA16025399 | APC | c.1530A>C (n.1530A>C) c.1919A>C (p.Tyr640Ser) c.*1871A>C (n.*1871A>C) c.1811A>C (p.Tyr604Ser) c.1865A>C (p.Tyr622Ser) c.218A>C c.554A>C (p.Tyr185Ser) c.*1187A>C (n.*1187A>C) c.230+6100A>C c.1895A>C (p.Tyr632Ser) c.1790A>C (p.Tyr597Ser) c.1781A>C (p.Tyr594Ser) c.1742A>C (p.Tyr581Ser) c.1688A>C (p.Tyr563Ser) c.1592A>C (p.Tyr531Ser) c.1562A>C (p.Tyr521Ser) c.1487A>C (p.Tyr496Ser) c.1385A>C (p.Tyr462Ser) c.1016A>C (p.Tyr339Ser) | |
| 5 | g.112835072A>G | CA16025400 | APC | c.1530A>G (n.1530A>G) c.1919A>G (p.Tyr640Cys) c.*1871A>G (n.*1871A>G) c.1811A>G (p.Tyr604Cys) c.1865A>G (p.Tyr622Cys) c.218A>G c.554A>G (p.Tyr185Cys) c.*1187A>G (n.*1187A>G) c.230+6100A>G c.1895A>G (p.Tyr632Cys) c.1790A>G (p.Tyr597Cys) c.1781A>G (p.Tyr594Cys) c.1742A>G (p.Tyr581Cys) c.1688A>G (p.Tyr563Cys) c.1592A>G (p.Tyr531Cys) c.1562A>G (p.Tyr521Cys) c.1487A>G (p.Tyr496Cys) c.1385A>G (p.Tyr462Cys) c.1016A>G (p.Tyr339Cys) | ClinVar dbSNP |
| 5 | g.112835072A>T | CA16025401 | APC | c.1530A>T (n.1530A>T) c.1919A>T (p.Tyr640Phe) c.*1871A>T (n.*1871A>T) c.1811A>T (p.Tyr604Phe) c.1865A>T (p.Tyr622Phe) c.218A>T c.554A>T (p.Tyr185Phe) c.*1187A>T (n.*1187A>T) c.230+6100A>T c.1895A>T (p.Tyr632Phe) c.1790A>T (p.Tyr597Phe) c.1781A>T (p.Tyr594Phe) c.1742A>T (p.Tyr581Phe) c.1688A>T (p.Tyr563Phe) c.1592A>T (p.Tyr531Phe) c.1562A>T (p.Tyr521Phe) c.1487A>T (p.Tyr496Phe) c.1385A>T (p.Tyr462Phe) c.1016A>T (p.Tyr339Phe) | ClinVar dbSNP |
| 5 | g.112835072dup | CA2499217463 | APC | c.1530dup (n.1530dup) c.1919dup (p.Tyr640Ter) c.*1871dup (n.*1871dup) c.1811dup (p.Tyr604Ter) c.1865dup (p.Tyr622Ter) c.218dup c.554dup (p.Tyr185Ter) c.*1187dup (n.*1187dup) c.230+6100dup c.1895dup (p.Tyr632Ter) c.1790dup (p.Tyr597Ter) c.1781dup (p.Tyr594Ter) c.1742dup (p.Tyr581Ter) c.1688dup (p.Tyr563Ter) c.1592dup (p.Tyr531Ter) c.1562dup (p.Tyr521Ter) c.1487dup (p.Tyr496Ter) c.1385dup (p.Tyr462Ter) c.1016dup (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073_112835077del | CA2695205047 | APC | c.1531_1535del (n.1531_1535del) c.1920_1924del (p.Tyr640Ter) c.*1872_*1876del (n.*1872_*1876del) c.1812_1816del (p.Tyr604Ter) c.1866_1870del (p.Tyr622Ter) c.219_223del c.555_559del (p.Tyr185Ter) c.*1188_*1192del (n.*1188_*1192del) c.230+6101_230+6105del c.1896_1900del (p.Tyr632Ter) c.1791_1795del (p.Tyr597Ter) c.1782_1786del (p.Tyr594Ter) c.1743_1747del (p.Tyr581Ter) c.1689_1693del (p.Tyr563Ter) c.1593_1597del (p.Tyr531Ter) c.1563_1567del (p.Tyr521Ter) c.1488_1492del (p.Tyr496Ter) c.1386_1390del (p.Tyr462Ter) c.1017_1021del (p.Tyr339Ter) | |
| 5 | g.112835073C>A | CA10578327 | APC | c.1531C>A (n.1531C>A) c.1920C>A (p.Tyr640Ter) c.*1872C>A (n.*1872C>A) c.1812C>A (p.Tyr604Ter) c.1866C>A (p.Tyr622Ter) c.219C>A c.555C>A (p.Tyr185Ter) c.*1188C>A (n.*1188C>A) c.230+6101C>A c.1896C>A (p.Tyr632Ter) c.1791C>A (p.Tyr597Ter) c.1782C>A (p.Tyr594Ter) c.1743C>A (p.Tyr581Ter) c.1689C>A (p.Tyr563Ter) c.1593C>A (p.Tyr531Ter) c.1563C>A (p.Tyr521Ter) c.1488C>A (p.Tyr496Ter) c.1386C>A (p.Tyr462Ter) c.1017C>A (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073C= | CA1573471079 | APC | c.1531C= (n.1531C=) c.1920C= (p.Tyr640=) c.*1872C= (n.*1872C=) c.1812C= (p.Tyr604=) c.1866C= (p.Tyr622=) c.219C= c.555C= (p.Tyr185=) c.*1188C= (n.*1188C=) c.230+6101C= c.1896C= (p.Tyr632=) c.1791C= (p.Tyr597=) c.1782C= (p.Tyr594=) c.1743C= (p.Tyr581=) c.1689C= (p.Tyr563=) c.1593C= (p.Tyr531=) c.1563C= (p.Tyr521=) c.1488C= (p.Tyr496=) c.1386C= (p.Tyr462=) c.1017C= (p.Tyr339=) | |
| 5 | g.112835073C>G | CA16025402 | APC | c.1531C>G (n.1531C>G) c.1920C>G (p.Tyr640Ter) c.*1872C>G (n.*1872C>G) c.1812C>G (p.Tyr604Ter) c.1866C>G (p.Tyr622Ter) c.219C>G c.555C>G (p.Tyr185Ter) c.*1188C>G (n.*1188C>G) c.230+6101C>G c.1896C>G (p.Tyr632Ter) c.1791C>G (p.Tyr597Ter) c.1782C>G (p.Tyr594Ter) c.1743C>G (p.Tyr581Ter) c.1689C>G (p.Tyr563Ter) c.1593C>G (p.Tyr531Ter) c.1563C>G (p.Tyr521Ter) c.1488C>G (p.Tyr496Ter) c.1386C>G (p.Tyr462Ter) c.1017C>G (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073C>T | CA10578328 | APC | c.1531C>T (n.1531C>T) c.1920C>T (p.Tyr640=) c.*1872C>T (n.*1872C>T) c.1812C>T (p.Tyr604=) c.1866C>T (p.Tyr622=) c.219C>T c.555C>T (p.Tyr185=) c.*1188C>T (n.*1188C>T) c.230+6101C>T c.1896C>T (p.Tyr632=) c.1791C>T (p.Tyr597=) c.1782C>T (p.Tyr594=) c.1743C>T (p.Tyr581=) c.1689C>T (p.Tyr563=) c.1593C>T (p.Tyr531=) c.1563C>T (p.Tyr521=) c.1488C>T (p.Tyr496=) c.1386C>T (p.Tyr462=) c.1017C>T (p.Tyr339=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835073_112835074delinsAT | CA10582290 | APC | c.1531_1532delinsAT (n.1531_1532delinsAT) c.1920_1921delinsAT (p.Tyr640Ter) c.*1872_*1873delinsAT (n.*1872_*1873delinsAT) c.1812_1813delinsAT (p.Tyr604Ter) c.1866_1867delinsAT (p.Tyr622Ter) c.219_220delinsAT c.555_556delinsAT (p.Tyr185Ter) c.*1188_*1189delinsAT (n.*1188_*1189delinsAT) c.230+6101_230+6102delinsAT c.1896_1897delinsAT (p.Tyr632Ter) c.1791_1792delinsAT (p.Tyr597Ter) c.1782_1783delinsAT (p.Tyr594Ter) c.1743_1744delinsAT (p.Tyr581Ter) c.1689_1690delinsAT (p.Tyr563Ter) c.1593_1594delinsAT (p.Tyr531Ter) c.1563_1564delinsAT (p.Tyr521Ter) c.1488_1489delinsAT (p.Tyr496Ter) c.1386_1387delinsAT (p.Tyr462Ter) c.1017_1018delinsAT (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073_112835074delinsCC | CA1573471092 | APC | c.1531_1532delinsCC (n.1531_1532delinsCC) c.1920_1921delinsCC (p.Tyr640=) c.*1872_*1873delinsCC (n.*1872_*1873delinsCC) c.1812_1813delinsCC (p.Tyr604=) c.1866_1867delinsCC (p.Tyr622=) c.219_220delinsCC c.555_556delinsCC (p.Tyr185=) c.*1188_*1189delinsCC (n.*1188_*1189delinsCC) c.230+6101_230+6102delinsCC c.1896_1897delinsCC (p.Tyr632=) c.1791_1792delinsCC (p.Tyr597=) c.1782_1783delinsCC (p.Tyr594=) c.1743_1744delinsCC (p.Tyr581=) c.1689_1690delinsCC (p.Tyr563=) c.1593_1594delinsCC (p.Tyr531=) c.1563_1564delinsCC (p.Tyr521=) c.1488_1489delinsCC (p.Tyr496=) c.1386_1387delinsCC (p.Tyr462=) c.1017_1018delinsCC (p.Tyr339=) | |
| 5 | g.112835074dup | CA658655593 | APC | c.1532dup (n.1532dup) c.1921dup (p.Arg641ProfsTer11) c.*1873dup (n.*1873dup) c.1813dup (p.Arg605ProfsTer11) c.1867dup (p.Arg623ProfsTer11) c.220dup c.556dup (p.Arg186ProfsTer11) c.*1189dup (n.*1189dup) c.230+6102dup c.1897dup (p.Arg633ProfsTer11) c.1792dup (p.Arg598ProfsTer11) c.1783dup (p.Arg595ProfsTer11) c.1744dup (p.Arg582ProfsTer11) c.1690dup (p.Arg564ProfsTer11) c.1594dup (p.Arg532ProfsTer11) c.1564dup (p.Arg522ProfsTer11) c.1489dup (p.Arg497ProfsTer11) c.1387dup (p.Arg463ProfsTer11) c.1018dup (p.Arg340ProfsTer11) | |
| 5 | g.112835074C>A | CA445758892 | APC | c.1532C>A (n.1532C>A) c.1921C>A (p.Arg641=) c.*1873C>A (n.*1873C>A) c.1813C>A (p.Arg605=) c.1867C>A (p.Arg623=) c.220C>A c.556C>A (p.Arg186=) c.*1189C>A (n.*1189C>A) c.230+6102C>A c.1897C>A (p.Arg633=) c.1792C>A (p.Arg598=) c.1783C>A (p.Arg595=) c.1744C>A (p.Arg582=) c.1690C>A (p.Arg564=) c.1594C>A (p.Arg532=) c.1564C>A (p.Arg522=) c.1489C>A (p.Arg497=) c.1387C>A (p.Arg463=) c.1018C>A (p.Arg340=) | dbSNP |
| 5 | g.112835074C= | CA1573471106 | APC | c.1532C= (n.1532C=) c.1921C= (p.Arg641=) c.*1873C= (n.*1873C=) c.1813C= (p.Arg605=) c.1867C= (p.Arg623=) c.220C= c.556C= (p.Arg186=) c.*1189C= (n.*1189C=) c.230+6102C= c.1897C= (p.Arg633=) c.1792C= (p.Arg598=) c.1783C= (p.Arg595=) c.1744C= (p.Arg582=) c.1690C= (p.Arg564=) c.1594C= (p.Arg532=) c.1564C= (p.Arg522=) c.1489C= (p.Arg497=) c.1387C= (p.Arg463=) c.1018C= (p.Arg340=) | |
| 5 | g.112835074C>G | CA16025403 | APC | c.1532C>G (n.1532C>G) c.1921C>G (p.Arg641Gly) c.*1873C>G (n.*1873C>G) c.1813C>G (p.Arg605Gly) c.1867C>G (p.Arg623Gly) c.220C>G c.556C>G (p.Arg186Gly) c.*1189C>G (n.*1189C>G) c.230+6102C>G c.1897C>G (p.Arg633Gly) c.1792C>G (p.Arg598Gly) c.1783C>G (p.Arg595Gly) c.1744C>G (p.Arg582Gly) c.1690C>G (p.Arg564Gly) c.1594C>G (p.Arg532Gly) c.1564C>G (p.Arg522Gly) c.1489C>G (p.Arg497Gly) c.1387C>G (p.Arg463Gly) c.1018C>G (p.Arg340Gly) | dbSNP |
| 5 | g.112835074C>T | CA006202 | APC | c.1532C>T (n.1532C>T) c.1921C>T (p.Arg641Trp) c.*1873C>T (n.*1873C>T) c.1813C>T (p.Arg605Trp) c.1867C>T (p.Arg623Trp) c.220C>T c.556C>T (p.Arg186Trp) c.*1189C>T (n.*1189C>T) c.230+6102C>T c.1897C>T (p.Arg633Trp) c.1792C>T (p.Arg598Trp) c.1783C>T (p.Arg595Trp) c.1744C>T (p.Arg582Trp) c.1690C>T (p.Arg564Trp) c.1594C>T (p.Arg532Trp) c.1564C>T (p.Arg522Trp) c.1489C>T (p.Arg497Trp) c.1387C>T (p.Arg463Trp) c.1018C>T (p.Arg340Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112835075G>A | CA16025404 | APC | c.1533G>A (n.1533G>A) c.1922G>A (p.Arg641Gln) c.*1874G>A (n.*1874G>A) c.1814G>A (p.Arg605Gln) c.1868G>A (p.Arg623Gln) c.221G>A c.557G>A (p.Arg186Gln) c.*1190G>A (n.*1190G>A) c.230+6103G>A c.1898G>A (p.Arg633Gln) c.1793G>A (p.Arg598Gln) c.1784G>A (p.Arg595Gln) c.1745G>A (p.Arg582Gln) c.1691G>A (p.Arg564Gln) c.1595G>A (p.Arg532Gln) c.1565G>A (p.Arg522Gln) c.1490G>A (p.Arg497Gln) c.1388G>A (p.Arg463Gln) c.1019G>A (p.Arg340Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112835075G>C | CA16025405 | APC | c.1533G>C (n.1533G>C) c.1922G>C (p.Arg641Pro) c.*1874G>C (n.*1874G>C) c.1814G>C (p.Arg605Pro) c.1868G>C (p.Arg623Pro) c.221G>C c.557G>C (p.Arg186Pro) c.*1190G>C (n.*1190G>C) c.230+6103G>C c.1898G>C (p.Arg633Pro) c.1793G>C (p.Arg598Pro) c.1784G>C (p.Arg595Pro) c.1745G>C (p.Arg582Pro) c.1691G>C (p.Arg564Pro) c.1595G>C (p.Arg532Pro) c.1565G>C (p.Arg522Pro) c.1490G>C (p.Arg497Pro) c.1388G>C (p.Arg463Pro) c.1019G>C (p.Arg340Pro) | dbSNP |
| 5 | g.112835075G= | CA1573471113 | APC | c.1533G= (n.1533G=) c.1922G= (p.Arg641=) c.*1874G= (n.*1874G=) c.1814G= (p.Arg605=) c.1868G= (p.Arg623=) c.221G= c.557G= (p.Arg186=) c.*1190G= (n.*1190G=) c.230+6103G= c.1898G= (p.Arg633=) c.1793G= (p.Arg598=) c.1784G= (p.Arg595=) c.1745G= (p.Arg582=) c.1691G= (p.Arg564=) c.1595G= (p.Arg532=) c.1565G= (p.Arg522=) c.1490G= (p.Arg497=) c.1388G= (p.Arg463=) c.1019G= (p.Arg340=) | |
| 5 | g.112835075G>T | CA16025406 | APC | c.1533G>T (n.1533G>T) c.1922G>T (p.Arg641Leu) c.*1874G>T (n.*1874G>T) c.1814G>T (p.Arg605Leu) c.1868G>T (p.Arg623Leu) c.221G>T c.557G>T (p.Arg186Leu) c.*1190G>T (n.*1190G>T) c.230+6103G>T c.1898G>T (p.Arg633Leu) c.1793G>T (p.Arg598Leu) c.1784G>T (p.Arg595Leu) c.1745G>T (p.Arg582Leu) c.1691G>T (p.Arg564Leu) c.1595G>T (p.Arg532Leu) c.1565G>T (p.Arg522Leu) c.1490G>T (p.Arg497Leu) c.1388G>T (p.Arg463Leu) c.1019G>T (p.Arg340Leu) | dbSNP |
| 5 | g.112835076del | CA2580613628 | APC | c.1534del (n.1534del) c.1923del (p.Ser642AlafsTer6) c.*1875del (n.*1875del) c.1815del (p.Ser606AlafsTer6) c.1869del (p.Ser624AlafsTer6) c.222del c.558del (p.Ser187AlafsTer6) c.*1191del (n.*1191del) c.230+6104del c.1899del (p.Ser634AlafsTer6) c.1794del (p.Ser599AlafsTer6) c.1785del (p.Ser596AlafsTer6) c.1746del (p.Ser583AlafsTer6) c.1692del (p.Ser565AlafsTer6) c.1596del (p.Ser533AlafsTer6) c.1566del (p.Ser523AlafsTer6) c.1491del (p.Ser498AlafsTer6) c.1389del (p.Ser464AlafsTer6) c.1020del (p.Ser341AlafsTer6) | ClinVar |
| 5 | g.112835076G>A | CA445758895 | APC | c.1534G>A (n.1534G>A) c.1923G>A (p.Arg641=) c.*1875G>A (n.*1875G>A) c.1815G>A (p.Arg605=) c.1869G>A (p.Arg623=) c.222G>A c.558G>A (p.Arg186=) c.*1191G>A (n.*1191G>A) c.230+6104G>A c.1899G>A (p.Arg633=) c.1794G>A (p.Arg598=) c.1785G>A (p.Arg595=) c.1746G>A (p.Arg582=) c.1692G>A (p.Arg564=) c.1596G>A (p.Arg532=) c.1566G>A (p.Arg522=) c.1491G>A (p.Arg497=) c.1389G>A (p.Arg463=) c.1020G>A (p.Arg340=) | dbSNP |
| 5 | g.112835076G>C | CA445758894 | APC | c.1534G>C (n.1534G>C) c.1923G>C (p.Arg641=) c.*1875G>C (n.*1875G>C) c.1815G>C (p.Arg605=) c.1869G>C (p.Arg623=) c.222G>C c.558G>C (p.Arg186=) c.*1191G>C (n.*1191G>C) c.230+6104G>C c.1899G>C (p.Arg633=) c.1794G>C (p.Arg598=) c.1785G>C (p.Arg595=) c.1746G>C (p.Arg582=) c.1692G>C (p.Arg564=) c.1596G>C (p.Arg532=) c.1566G>C (p.Arg522=) c.1491G>C (p.Arg497=) c.1389G>C (p.Arg463=) c.1020G>C (p.Arg340=) | ClinVar dbSNP |
| 5 | g.112835076G>T | CA445758893 | APC | c.1534G>T (n.1534G>T) c.1923G>T (p.Arg641=) c.*1875G>T (n.*1875G>T) c.1815G>T (p.Arg605=) c.1869G>T (p.Arg623=) c.222G>T c.558G>T (p.Arg186=) c.*1191G>T (n.*1191G>T) c.230+6104G>T c.1899G>T (p.Arg633=) c.1794G>T (p.Arg598=) c.1785G>T (p.Arg595=) c.1746G>T (p.Arg582=) c.1692G>T (p.Arg564=) c.1596G>T (p.Arg532=) c.1566G>T (p.Arg522=) c.1491G>T (p.Arg497=) c.1389G>T (p.Arg463=) c.1020G>T (p.Arg340=) | |
| 5 | g.112835077A= | CA1573471120 | APC | c.1535A= (n.1535A=) c.1924A= (p.Ser642=) c.*1876A= (n.*1876A=) c.1816A= (p.Ser606=) c.1870A= (p.Ser624=) c.223A= c.559A= (p.Ser187=) c.*1192A= (n.*1192A=) c.230+6105A= c.1900A= (p.Ser634=) c.1795A= (p.Ser599=) c.1786A= (p.Ser596=) c.1747A= (p.Ser583=) c.1693A= (p.Ser565=) c.1597A= (p.Ser533=) c.1567A= (p.Ser523=) c.1492A= (p.Ser498=) c.1390A= (p.Ser464=) c.1021A= (p.Ser341=) | |
| 5 | g.112835077A>C | CA16025407 | APC | c.1535A>C (n.1535A>C) c.1924A>C (p.Ser642Arg) c.*1876A>C (n.*1876A>C) c.1816A>C (p.Ser606Arg) c.1870A>C (p.Ser624Arg) c.223A>C c.559A>C (p.Ser187Arg) c.*1192A>C (n.*1192A>C) c.230+6105A>C c.1900A>C (p.Ser634Arg) c.1795A>C (p.Ser599Arg) c.1786A>C (p.Ser596Arg) c.1747A>C (p.Ser583Arg) c.1693A>C (p.Ser565Arg) c.1597A>C (p.Ser533Arg) c.1567A>C (p.Ser523Arg) c.1492A>C (p.Ser498Arg) c.1390A>C (p.Ser464Arg) c.1021A>C (p.Ser341Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112835077A>G | CA16025408 | APC | c.1535A>G (n.1535A>G) c.1924A>G (p.Ser642Gly) c.*1876A>G (n.*1876A>G) c.1816A>G (p.Ser606Gly) c.1870A>G (p.Ser624Gly) c.223A>G c.559A>G (p.Ser187Gly) c.*1192A>G (n.*1192A>G) c.230+6105A>G c.1900A>G (p.Ser634Gly) c.1795A>G (p.Ser599Gly) c.1786A>G (p.Ser596Gly) c.1747A>G (p.Ser583Gly) c.1693A>G (p.Ser565Gly) c.1597A>G (p.Ser533Gly) c.1567A>G (p.Ser523Gly) c.1492A>G (p.Ser498Gly) c.1390A>G (p.Ser464Gly) c.1021A>G (p.Ser341Gly) |