| 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.112835093dup | CA336012 | APC | c.1551dup (n.1551dup) c.1940dup (p.Leu647PhefsTer5) c.*1892dup (n.*1892dup) c.1832dup (p.Leu611PhefsTer5) c.1886dup (p.Leu629PhefsTer5) c.239dup c.575dup (p.Leu192PhefsTer5) c.*1208dup (n.*1208dup) c.230+6121dup c.1916dup (p.Leu639PhefsTer5) c.1811dup (p.Leu604PhefsTer5) c.1802dup (p.Leu601PhefsTer5) c.1763dup (p.Leu588PhefsTer5) c.1709dup (p.Leu570PhefsTer5) c.1613dup (p.Leu538PhefsTer5) c.1583dup (p.Leu528PhefsTer5) c.1508dup (p.Leu503PhefsTer5) c.1406dup (p.Leu469PhefsTer5) c.1037dup (p.Leu346PhefsTer5) | ClinVar dbSNP |
| 5 | g.112835092_112835093dup | CA658760612 | APC | c.1550_1551dup (n.1550_1551dup) c.1939_1940dup (p.Leu647PhefsTer2) c.*1891_*1892dup (n.*1891_*1892dup) c.1831_1832dup (p.Leu611PhefsTer2) c.1885_1886dup (p.Leu629PhefsTer2) c.238_239dup c.574_575dup (p.Leu192PhefsTer2) c.*1207_*1208dup (n.*1207_*1208dup) c.230+6120_230+6121dup c.1915_1916dup (p.Leu639PhefsTer2) c.1810_1811dup (p.Leu604PhefsTer2) c.1801_1802dup (p.Leu601PhefsTer2) c.1762_1763dup (p.Leu588PhefsTer2) c.1708_1709dup (p.Leu570PhefsTer2) c.1612_1613dup (p.Leu538PhefsTer2) c.1582_1583dup (p.Leu528PhefsTer2) c.1507_1508dup (p.Leu503PhefsTer2) c.1405_1406dup (p.Leu469PhefsTer2) c.1036_1037dup (p.Leu346PhefsTer2) | |
| 5 | g.112835093del | CA16618076 | APC | c.1551del (n.1551del) c.1940del (p.Leu647Ter) c.*1892del (n.*1892del) c.1832del (p.Leu611Ter) c.1886del (p.Leu629Ter) c.239del c.575del (p.Leu192Ter) c.*1208del (n.*1208del) c.230+6121del c.1916del (p.Leu639Ter) c.1811del (p.Leu604Ter) c.1802del (p.Leu601Ter) c.1763del (p.Leu588Ter) c.1709del (p.Leu570Ter) c.1613del (p.Leu538Ter) c.1583del (p.Leu528Ter) c.1508del (p.Leu503Ter) c.1406del (p.Leu469Ter) c.1037del (p.Leu346Ter) | ClinVar dbSNP |
| 5 | g.112835092_112835093del | CA658760347 | APC | c.1550_1551del (n.1550_1551del) c.1939_1940del (p.Leu647SerfsTer4) c.*1891_*1892del (n.*1891_*1892del) c.1831_1832del (p.Leu611SerfsTer4) c.1885_1886del (p.Leu629SerfsTer4) c.238_239del c.574_575del (p.Leu192SerfsTer4) c.*1207_*1208del (n.*1207_*1208del) c.230+6120_230+6121del c.1915_1916del (p.Leu639SerfsTer4) c.1810_1811del (p.Leu604SerfsTer4) c.1801_1802del (p.Leu601SerfsTer4) c.1762_1763del (p.Leu588SerfsTer4) c.1708_1709del (p.Leu570SerfsTer4) c.1612_1613del (p.Leu538SerfsTer4) c.1582_1583del (p.Leu528SerfsTer4) c.1507_1508del (p.Leu503SerfsTer4) c.1405_1406del (p.Leu469SerfsTer4) c.1036_1037del (p.Leu346SerfsTer4) | |
| 5 | g.112835091_112835104dup | CA2695205050 | APC | c.1549_1562dup (n.1549_1562dup) c.1938_1951dup (p.Glu651ValfsTer2) c.*1890_*1903dup (n.*1890_*1903dup) c.1830_1843dup (p.Glu615ValfsTer2) c.1884_1897dup (p.Glu633ValfsTer2) c.237_250dup c.573_586dup (p.Glu196ValfsTer2) c.*1206_*1219dup (n.*1206_*1219dup) c.230+6119_230+6132dup c.1914_1927dup (p.Glu643ValfsTer2) c.1809_1822dup (p.Glu608ValfsTer2) c.1800_1813dup (p.Glu605ValfsTer2) c.1761_1774dup (p.Glu592ValfsTer2) c.1707_1720dup (p.Glu574ValfsTer2) c.1611_1624dup (p.Glu542ValfsTer2) c.1581_1594dup (p.Glu532ValfsTer2) c.1506_1519dup (p.Glu507ValfsTer2) c.1404_1417dup (p.Glu473ValfsTer2) c.1035_1048dup (p.Glu350ValfsTer2) | |
| 5 | g.112835095_112835101del | CA2697546205 | APC | c.1553_1559del (n.1553_1559del) c.1942_1948del (p.Ala648LeufsTer14) c.*1894_*1900del (n.*1894_*1900del) c.1834_1840del (p.Ala612LeufsTer14) c.1888_1894del (p.Ala630LeufsTer14) c.241_247del c.577_583del (p.Ala193LeufsTer14) c.*1210_*1216del (n.*1210_*1216del) c.230+6123_230+6129del c.1918_1924del (p.Ala640LeufsTer14) c.1813_1819del (p.Ala605LeufsTer14) c.1804_1810del (p.Ala602LeufsTer14) c.1765_1771del (p.Ala589LeufsTer14) c.1711_1717del (p.Ala571LeufsTer14) c.1615_1621del (p.Ala539LeufsTer14) c.1585_1591del (p.Ala529LeufsTer14) c.1510_1516del (p.Ala504LeufsTer14) c.1408_1414del (p.Ala470LeufsTer14) c.1039_1045del (p.Ala347LeufsTer14) | |
| 5 | g.112835093T>A | CA16025441 | APC | c.1551T>A (n.1551T>A) c.1940T>A (p.Leu647Ter) c.*1892T>A (n.*1892T>A) c.1832T>A (p.Leu611Ter) c.1886T>A (p.Leu629Ter) c.239T>A c.575T>A (p.Leu192Ter) c.*1208T>A (n.*1208T>A) c.230+6121T>A c.1916T>A (p.Leu639Ter) c.1811T>A (p.Leu604Ter) c.1802T>A (p.Leu601Ter) c.1763T>A (p.Leu588Ter) c.1709T>A (p.Leu570Ter) c.1613T>A (p.Leu538Ter) c.1583T>A (p.Leu528Ter) c.1508T>A (p.Leu503Ter) c.1406T>A (p.Leu469Ter) c.1037T>A (p.Leu346Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112835093T>C | CA16025442 | APC | c.1551T>C (n.1551T>C) c.1940T>C (p.Leu647Ser) c.*1892T>C (n.*1892T>C) c.1832T>C (p.Leu611Ser) c.1886T>C (p.Leu629Ser) c.239T>C c.575T>C (p.Leu192Ser) c.*1208T>C (n.*1208T>C) c.230+6121T>C c.1916T>C (p.Leu639Ser) c.1811T>C (p.Leu604Ser) c.1802T>C (p.Leu601Ser) c.1763T>C (p.Leu588Ser) c.1709T>C (p.Leu570Ser) c.1613T>C (p.Leu538Ser) c.1583T>C (p.Leu528Ser) c.1508T>C (p.Leu503Ser) c.1406T>C (p.Leu469Ser) c.1037T>C (p.Leu346Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835093T>G | CA16025443 | APC | c.1551T>G (n.1551T>G) c.1940T>G (p.Leu647Ter) c.*1892T>G (n.*1892T>G) c.1832T>G (p.Leu611Ter) c.1886T>G (p.Leu629Ter) c.239T>G c.575T>G (p.Leu192Ter) c.*1208T>G (n.*1208T>G) c.230+6121T>G c.1916T>G (p.Leu639Ter) c.1811T>G (p.Leu604Ter) c.1802T>G (p.Leu601Ter) c.1763T>G (p.Leu588Ter) c.1709T>G (p.Leu570Ter) c.1613T>G (p.Leu538Ter) c.1583T>G (p.Leu528Ter) c.1508T>G (p.Leu503Ter) c.1406T>G (p.Leu469Ter) c.1037T>G (p.Leu346Ter) | ClinVar dbSNP |
| 5 | g.112835093T= | CA1573471263 | APC | c.1551T= (n.1551T=) c.1940T= (p.Leu647=) c.*1892T= (n.*1892T=) c.1832T= (p.Leu611=) c.1886T= (p.Leu629=) c.239T= c.575T= (p.Leu192=) c.*1208T= (n.*1208T=) c.230+6121T= c.1916T= (p.Leu639=) c.1811T= (p.Leu604=) c.1802T= (p.Leu601=) c.1763T= (p.Leu588=) c.1709T= (p.Leu570=) c.1613T= (p.Leu538=) c.1583T= (p.Leu528=) c.1508T= (p.Leu503=) c.1406T= (p.Leu469=) c.1037T= (p.Leu346=) | |
| 5 | g.112835094A>C | CA16025444 | APC | c.1552A>C (n.1552A>C) c.1941A>C (p.Leu647Phe) c.*1893A>C (n.*1893A>C) c.1833A>C (p.Leu611Phe) c.1887A>C (p.Leu629Phe) c.240A>C c.576A>C (p.Leu192Phe) c.*1209A>C (n.*1209A>C) c.230+6122A>C c.1917A>C (p.Leu639Phe) c.1812A>C (p.Leu604Phe) c.1803A>C (p.Leu601Phe) c.1764A>C (p.Leu588Phe) c.1710A>C (p.Leu570Phe) c.1614A>C (p.Leu538Phe) c.1584A>C (p.Leu528Phe) c.1509A>C (p.Leu503Phe) c.1407A>C (p.Leu469Phe) c.1038A>C (p.Leu346Phe) | |
| 5 | g.112835094A>G | CA445758904 | APC | c.1552A>G (n.1552A>G) c.1941A>G (p.Leu647=) c.*1893A>G (n.*1893A>G) c.1833A>G (p.Leu611=) c.1887A>G (p.Leu629=) c.240A>G c.576A>G (p.Leu192=) c.*1209A>G (n.*1209A>G) c.230+6122A>G c.1917A>G (p.Leu639=) c.1812A>G (p.Leu604=) c.1803A>G (p.Leu601=) c.1764A>G (p.Leu588=) c.1710A>G (p.Leu570=) c.1614A>G (p.Leu538=) c.1584A>G (p.Leu528=) c.1509A>G (p.Leu503=) c.1407A>G (p.Leu469=) c.1038A>G (p.Leu346=) | |
| 5 | g.112835094A>T | CA16025445 | APC | c.1552A>T (n.1552A>T) c.1941A>T (p.Leu647Phe) c.*1893A>T (n.*1893A>T) c.1833A>T (p.Leu611Phe) c.1887A>T (p.Leu629Phe) c.240A>T c.576A>T (p.Leu192Phe) c.*1209A>T (n.*1209A>T) c.230+6122A>T c.1917A>T (p.Leu639Phe) c.1812A>T (p.Leu604Phe) c.1803A>T (p.Leu601Phe) c.1764A>T (p.Leu588Phe) c.1710A>T (p.Leu570Phe) c.1614A>T (p.Leu538Phe) c.1584A>T (p.Leu528Phe) c.1509A>T (p.Leu503Phe) c.1407A>T (p.Leu469Phe) c.1038A>T (p.Leu346Phe) | dbSNP |
| 5 | g.112835094_112835101del | CA2573138914 | APC | c.1552_1559del (n.1552_1559del) c.1941_1948del (p.Leu647PhefsTer2) c.*1893_*1900del (n.*1893_*1900del) c.1833_1840del (p.Leu611PhefsTer2) c.1887_1894del (p.Leu629PhefsTer2) c.240_247del c.576_583del (p.Leu192PhefsTer2) c.*1209_*1216del (n.*1209_*1216del) c.230+6122_230+6129del c.1917_1924del (p.Leu639PhefsTer2) c.1812_1819del (p.Leu604PhefsTer2) c.1803_1810del (p.Leu601PhefsTer2) c.1764_1771del (p.Leu588PhefsTer2) c.1710_1717del (p.Leu570PhefsTer2) c.1614_1621del (p.Leu538PhefsTer2) c.1584_1591del (p.Leu528PhefsTer2) c.1509_1516del (p.Leu503PhefsTer2) c.1407_1414del (p.Leu469PhefsTer2) c.1038_1045del (p.Leu346PhefsTer2) | ClinVar dbSNP |
| 5 | g.112835095G>A | CA16025446 | APC | c.1553G>A (n.1553G>A) c.1942G>A (p.Ala648Thr) c.*1894G>A (n.*1894G>A) c.1834G>A (p.Ala612Thr) c.1888G>A (p.Ala630Thr) c.241G>A c.577G>A (p.Ala193Thr) c.*1210G>A (n.*1210G>A) c.230+6123G>A c.1918G>A (p.Ala640Thr) c.1813G>A (p.Ala605Thr) c.1804G>A (p.Ala602Thr) c.1765G>A (p.Ala589Thr) c.1711G>A (p.Ala571Thr) c.1615G>A (p.Ala539Thr) c.1585G>A (p.Ala529Thr) c.1510G>A (p.Ala504Thr) c.1408G>A (p.Ala470Thr) c.1039G>A (p.Ala347Thr) | ClinVar dbSNP COSMIC |
| 5 | g.112835095G>C | CA16025447 | APC | c.1553G>C (n.1553G>C) c.1942G>C (p.Ala648Pro) c.*1894G>C (n.*1894G>C) c.1834G>C (p.Ala612Pro) c.1888G>C (p.Ala630Pro) c.241G>C c.577G>C (p.Ala193Pro) c.*1210G>C (n.*1210G>C) c.230+6123G>C c.1918G>C (p.Ala640Pro) c.1813G>C (p.Ala605Pro) c.1804G>C (p.Ala602Pro) c.1765G>C (p.Ala589Pro) c.1711G>C (p.Ala571Pro) c.1615G>C (p.Ala539Pro) c.1585G>C (p.Ala529Pro) c.1510G>C (p.Ala504Pro) c.1408G>C (p.Ala470Pro) c.1039G>C (p.Ala347Pro) | ClinVar dbSNP |
| 5 | g.112835095G= | CA1573471277 | APC | c.1553G= (n.1553G=) c.1942G= (p.Ala648=) c.*1894G= (n.*1894G=) c.1834G= (p.Ala612=) c.1888G= (p.Ala630=) c.241G= c.577G= (p.Ala193=) c.*1210G= (n.*1210G=) c.230+6123G= c.1918G= (p.Ala640=) c.1813G= (p.Ala605=) c.1804G= (p.Ala602=) c.1765G= (p.Ala589=) c.1711G= (p.Ala571=) c.1615G= (p.Ala539=) c.1585G= (p.Ala529=) c.1510G= (p.Ala504=) c.1408G= (p.Ala470=) c.1039G= (p.Ala347=) | |
| 5 | g.112835095G>T | CA16025448 | APC | c.1553G>T (n.1553G>T) c.1942G>T (p.Ala648Ser) c.*1894G>T (n.*1894G>T) c.1834G>T (p.Ala612Ser) c.1888G>T (p.Ala630Ser) c.241G>T c.577G>T (p.Ala193Ser) c.*1210G>T (n.*1210G>T) c.230+6123G>T c.1918G>T (p.Ala640Ser) c.1813G>T (p.Ala605Ser) c.1804G>T (p.Ala602Ser) c.1765G>T (p.Ala589Ser) c.1711G>T (p.Ala571Ser) c.1615G>T (p.Ala539Ser) c.1585G>T (p.Ala529Ser) c.1510G>T (p.Ala504Ser) c.1408G>T (p.Ala470Ser) c.1039G>T (p.Ala347Ser) | |
| 5 | g.112835096C>A | CA16025449 | APC | c.1554C>A (n.1554C>A) c.1943C>A (p.Ala648Asp) c.*1895C>A (n.*1895C>A) c.1835C>A (p.Ala612Asp) c.1889C>A (p.Ala630Asp) c.242C>A c.578C>A (p.Ala193Asp) c.*1211C>A (n.*1211C>A) c.230+6124C>A c.1919C>A (p.Ala640Asp) c.1814C>A (p.Ala605Asp) c.1805C>A (p.Ala602Asp) c.1766C>A (p.Ala589Asp) c.1712C>A (p.Ala571Asp) c.1616C>A (p.Ala539Asp) c.1586C>A (p.Ala529Asp) c.1511C>A (p.Ala504Asp) c.1409C>A (p.Ala470Asp) c.1040C>A (p.Ala347Asp) | dbSNP |
| 5 | g.112835096C= | CA1573471285 | APC | c.1554C= (n.1554C=) c.1943C= (p.Ala648=) c.*1895C= (n.*1895C=) c.1835C= (p.Ala612=) c.1889C= (p.Ala630=) c.242C= c.578C= (p.Ala193=) c.*1211C= (n.*1211C=) c.230+6124C= c.1919C= (p.Ala640=) c.1814C= (p.Ala605=) c.1805C= (p.Ala602=) c.1766C= (p.Ala589=) c.1712C= (p.Ala571=) c.1616C= (p.Ala539=) c.1586C= (p.Ala529=) c.1511C= (p.Ala504=) c.1409C= (p.Ala470=) c.1040C= (p.Ala347=) | |
| 5 | g.112835096C>G | CA16025450 | APC | c.1554C>G (n.1554C>G) c.1943C>G (p.Ala648Gly) c.*1895C>G (n.*1895C>G) c.1835C>G (p.Ala612Gly) c.1889C>G (p.Ala630Gly) c.242C>G c.578C>G (p.Ala193Gly) c.*1211C>G (n.*1211C>G) c.230+6124C>G c.1919C>G (p.Ala640Gly) c.1814C>G (p.Ala605Gly) c.1805C>G (p.Ala602Gly) c.1766C>G (p.Ala589Gly) c.1712C>G (p.Ala571Gly) c.1616C>G (p.Ala539Gly) c.1586C>G (p.Ala529Gly) c.1511C>G (p.Ala504Gly) c.1409C>G (p.Ala470Gly) c.1040C>G (p.Ala347Gly) | dbSNP |
| 5 | g.112835096C>T | CA16025451 | APC | c.1554C>T (n.1554C>T) c.1943C>T (p.Ala648Val) c.*1895C>T (n.*1895C>T) c.1835C>T (p.Ala612Val) c.1889C>T (p.Ala630Val) c.242C>T c.578C>T (p.Ala193Val) c.*1211C>T (n.*1211C>T) c.230+6124C>T c.1919C>T (p.Ala640Val) c.1814C>T (p.Ala605Val) c.1805C>T (p.Ala602Val) c.1766C>T (p.Ala589Val) c.1712C>T (p.Ala571Val) c.1616C>T (p.Ala539Val) c.1586C>T (p.Ala529Val) c.1511C>T (p.Ala504Val) c.1409C>T (p.Ala470Val) c.1040C>T (p.Ala347Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112835097del | CA658760616 | APC | c.1555del (n.1555del) c.1944del (p.Ile649LeufsTer15) c.*1896del (n.*1896del) c.1836del (p.Ile613LeufsTer15) c.1890del (p.Ile631LeufsTer15) c.243del c.579del (p.Ile194LeufsTer15) c.*1212del (n.*1212del) c.230+6125del c.1920del (p.Ile641LeufsTer15) c.1815del (p.Ile606LeufsTer15) c.1806del (p.Ile603LeufsTer15) c.1767del (p.Ile590LeufsTer15) c.1713del (p.Ile572LeufsTer15) c.1617del (p.Ile540LeufsTer15) c.1587del (p.Ile530LeufsTer15) c.1512del (p.Ile505LeufsTer15) c.1410del (p.Ile471LeufsTer15) c.1041del (p.Ile348LeufsTer15) | |
| 5 | g.112835097C>A | CA445758905 | APC | c.1555C>A (n.1555C>A) c.1944C>A (p.Ala648=) c.*1896C>A (n.*1896C>A) c.1836C>A (p.Ala612=) c.1890C>A (p.Ala630=) c.243C>A c.579C>A (p.Ala193=) c.*1212C>A (n.*1212C>A) c.230+6125C>A c.1920C>A (p.Ala640=) c.1815C>A (p.Ala605=) c.1806C>A (p.Ala602=) c.1767C>A (p.Ala589=) c.1713C>A (p.Ala571=) c.1617C>A (p.Ala539=) c.1587C>A (p.Ala529=) c.1512C>A (p.Ala504=) c.1410C>A (p.Ala470=) c.1041C>A (p.Ala347=) | dbSNP |
| 5 | g.112835097C>G | CA445758907 | APC | c.1555C>G (n.1555C>G) c.1944C>G (p.Ala648=) c.*1896C>G (n.*1896C>G) c.1836C>G (p.Ala612=) c.1890C>G (p.Ala630=) c.243C>G c.579C>G (p.Ala193=) c.*1212C>G (n.*1212C>G) c.230+6125C>G c.1920C>G (p.Ala640=) c.1815C>G (p.Ala605=) c.1806C>G (p.Ala602=) c.1767C>G (p.Ala589=) c.1713C>G (p.Ala571=) c.1617C>G (p.Ala539=) c.1587C>G (p.Ala529=) c.1512C>G (p.Ala504=) c.1410C>G (p.Ala470=) c.1041C>G (p.Ala347=) | dbSNP |
| 5 | g.112835097C>T | CA445758906 | APC | c.1555C>T (n.1555C>T) c.1944C>T (p.Ala648=) c.*1896C>T (n.*1896C>T) c.1836C>T (p.Ala612=) c.1890C>T (p.Ala630=) c.243C>T c.579C>T (p.Ala193=) c.*1212C>T (n.*1212C>T) c.230+6125C>T c.1920C>T (p.Ala640=) c.1815C>T (p.Ala605=) c.1806C>T (p.Ala602=) c.1767C>T (p.Ala589=) c.1713C>T (p.Ala571=) c.1617C>T (p.Ala539=) c.1587C>T (p.Ala529=) c.1512C>T (p.Ala504=) c.1410C>T (p.Ala470=) c.1041C>T (p.Ala347=) | dbSNP |
| 5 | g.112835097_112835098delinsCA | CA1573471288 | APC | c.1555_1556delinsCA (n.1555_1556delinsCA) c.1944_1945delinsCA (p.Ala648=) c.*1896_*1897delinsCA (n.*1896_*1897delinsCA) c.1836_1837delinsCA (p.Ala612=) c.1890_1891delinsCA (p.Ala630=) c.243_244delinsCA c.579_580delinsCA (p.Ala193=) c.*1212_*1213delinsCA (n.*1212_*1213delinsCA) c.230+6125_230+6126delinsCA c.1920_1921delinsCA (p.Ala640=) c.1815_1816delinsCA (p.Ala605=) c.1806_1807delinsCA (p.Ala602=) c.1767_1768delinsCA (p.Ala589=) c.1713_1714delinsCA (p.Ala571=) c.1617_1618delinsCA (p.Ala539=) c.1587_1588delinsCA (p.Ala529=) c.1512_1513delinsCA (p.Ala504=) c.1410_1411delinsCA (p.Ala470=) c.1041_1042delinsCA (p.Ala347=) | |
| 5 | g.112835097_112835098insTA | CA2695205051 | APC | c.1555_1556insTA (n.1555_1556insTA) c.1944_1945insTA (p.Ile649Ter) c.*1896_*1897insTA (n.*1896_*1897insTA) c.1836_1837insTA (p.Ile613Ter) c.1890_1891insTA (p.Ile631Ter) c.243_244insTA c.579_580insTA (p.Ile194Ter) c.*1212_*1213insTA (n.*1212_*1213insTA) c.230+6125_230+6126insTA c.1920_1921insTA (p.Ile641Ter) c.1815_1816insTA (p.Ile606Ter) c.1806_1807insTA (p.Ile603Ter) c.1767_1768insTA (p.Ile590Ter) c.1713_1714insTA (p.Ile572Ter) c.1617_1618insTA (p.Ile540Ter) c.1587_1588insTA (p.Ile530Ter) c.1512_1513insTA (p.Ile505Ter) c.1410_1411insTA (p.Ile471Ter) c.1041_1042insTA (p.Ile348Ter) | |
| 5 | g.112835098del | CA1573471290 | APC | c.1556del (n.1556del) c.1945del (p.Ile649LeufsTer15) c.*1897del (n.*1897del) c.1837del (p.Ile613LeufsTer15) c.1891del (p.Ile631LeufsTer15) c.244del c.580del (p.Ile194LeufsTer15) c.*1213del (n.*1213del) c.230+6126del c.1921del (p.Ile641LeufsTer15) c.1816del (p.Ile606LeufsTer15) c.1807del (p.Ile603LeufsTer15) c.1768del (p.Ile590LeufsTer15) c.1714del (p.Ile572LeufsTer15) c.1618del (p.Ile540LeufsTer15) c.1588del (p.Ile530LeufsTer15) c.1513del (p.Ile505LeufsTer15) c.1411del (p.Ile471LeufsTer15) c.1042del (p.Ile348LeufsTer15) | dbSNP |
| 5 | g.112835098A= | CA1573471301 | APC | c.1556A= (n.1556A=) c.1945A= (p.Ile649=) c.*1897A= (n.*1897A=) c.1837A= (p.Ile613=) c.1891A= (p.Ile631=) c.244A= c.580A= (p.Ile194=) c.*1213A= (n.*1213A=) c.230+6126A= c.1921A= (p.Ile641=) c.1816A= (p.Ile606=) c.1807A= (p.Ile603=) c.1768A= (p.Ile590=) c.1714A= (p.Ile572=) c.1618A= (p.Ile540=) c.1588A= (p.Ile530=) c.1513A= (p.Ile505=) c.1411A= (p.Ile471=) c.1042A= (p.Ile348=) | |
| 5 | g.112835098A>C | CA16025452 | APC | c.1556A>C (n.1556A>C) c.1945A>C (p.Ile649Leu) c.*1897A>C (n.*1897A>C) c.1837A>C (p.Ile613Leu) c.1891A>C (p.Ile631Leu) c.244A>C c.580A>C (p.Ile194Leu) c.*1213A>C (n.*1213A>C) c.230+6126A>C c.1921A>C (p.Ile641Leu) c.1816A>C (p.Ile606Leu) c.1807A>C (p.Ile603Leu) c.1768A>C (p.Ile590Leu) c.1714A>C (p.Ile572Leu) c.1618A>C (p.Ile540Leu) c.1588A>C (p.Ile530Leu) c.1513A>C (p.Ile505Leu) c.1411A>C (p.Ile471Leu) c.1042A>C (p.Ile348Leu) | |
| 5 | g.112835098A>G | CA16025453 | APC | c.1556A>G (n.1556A>G) c.1945A>G (p.Ile649Val) c.*1897A>G (n.*1897A>G) c.1837A>G (p.Ile613Val) c.1891A>G (p.Ile631Val) c.244A>G c.580A>G (p.Ile194Val) c.*1213A>G (n.*1213A>G) c.230+6126A>G c.1921A>G (p.Ile641Val) c.1816A>G (p.Ile606Val) c.1807A>G (p.Ile603Val) c.1768A>G (p.Ile590Val) c.1714A>G (p.Ile572Val) c.1618A>G (p.Ile540Val) c.1588A>G (p.Ile530Val) c.1513A>G (p.Ile505Val) c.1411A>G (p.Ile471Val) c.1042A>G (p.Ile348Val) | ClinVar dbSNP gnomAD v2 |
| 5 | g.112835098A>T | CA16025454 | APC | c.1556A>T (n.1556A>T) c.1945A>T (p.Ile649Phe) c.*1897A>T (n.*1897A>T) c.1837A>T (p.Ile613Phe) c.1891A>T (p.Ile631Phe) c.244A>T c.580A>T (p.Ile194Phe) c.*1213A>T (n.*1213A>T) c.230+6126A>T c.1921A>T (p.Ile641Phe) c.1816A>T (p.Ile606Phe) c.1807A>T (p.Ile603Phe) c.1768A>T (p.Ile590Phe) c.1714A>T (p.Ile572Phe) c.1618A>T (p.Ile540Phe) c.1588A>T (p.Ile530Phe) c.1513A>T (p.Ile505Phe) c.1411A>T (p.Ile471Phe) c.1042A>T (p.Ile348Phe) | |
| 5 | g.112835098_112835099delinsAT | CA1573471305 | APC | c.1556_1557delinsAT (n.1556_1557delinsAT) c.1945_1946delinsAT (p.Ile649=) c.*1897_*1898delinsAT (n.*1897_*1898delinsAT) c.1837_1838delinsAT (p.Ile613=) c.1891_1892delinsAT (p.Ile631=) c.244_245delinsAT c.580_581delinsAT (p.Ile194=) c.*1213_*1214delinsAT (n.*1213_*1214delinsAT) c.230+6126_230+6127delinsAT c.1921_1922delinsAT (p.Ile641=) c.1816_1817delinsAT (p.Ile606=) c.1807_1808delinsAT (p.Ile603=) c.1768_1769delinsAT (p.Ile590=) c.1714_1715delinsAT (p.Ile572=) c.1618_1619delinsAT (p.Ile540=) c.1588_1589delinsAT (p.Ile530=) c.1513_1514delinsAT (p.Ile505=) c.1411_1412delinsAT (p.Ile471=) c.1042_1043delinsAT (p.Ile348=) | |
| 5 | g.112835098_112835111delinsATTATTGAAAGTGG | CA1573471296 | APC | c.1556_1569delinsATTATTGAAAGTGG (n.1556_1569delinsATTATTGAAAGTGG) c.1945_1958delinsATTATTGAAAGTGG (p.Ile649=) c.*1897_*1910delinsATTATTGAAAGTGG (n.*1897_*1910delinsATTATTGAAAGTGG) c.1837_1850delinsATTATTGAAAGTGG (p.Ile613=) c.1891_1904delinsATTATTGAAAGTGG (p.Ile631=) c.244_257delinsATTATTGAAAGTGG c.580_593delinsATTATTGAAAGTGG (p.Ile194=) c.*1213_*1226delinsATTATTGAAAGTGG (n.*1213_*1226delinsATTATTGAAAGTGG) c.230+6126_230+6139delinsATTATTGAAAGTGG c.1921_1934delinsATTATTGAAAGTGG (p.Ile641=) c.1816_1829delinsATTATTGAAAGTGG (p.Ile606=) c.1807_1820delinsATTATTGAAAGTGG (p.Ile603=) c.1768_1781delinsATTATTGAAAGTGG (p.Ile590=) c.1714_1727delinsATTATTGAAAGTGG (p.Ile572=) c.1618_1631delinsATTATTGAAAGTGG (p.Ile540=) c.1588_1601delinsATTATTGAAAGTGG (p.Ile530=) c.1513_1526delinsATTATTGAAAGTGG (p.Ile505=) c.1411_1424delinsATTATTGAAAGTGG (p.Ile471=) c.1042_1055delinsATTATTGAAAGTGG (p.Ile348=) | |
| 5 | g.112835098_112835190delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT | CA1573471303 | APC | c.1556_1623+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1945_2012+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.*1897_*1964+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1837_1904+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1891_1958+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.244_311+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.580_647+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.*1213_*1280+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.230+6126_230+6218delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1921_1988+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1816_1883+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1807_1874+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1768_1835+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1714_1781+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1618_1685+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1588_1655+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1513_1580+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1411_1478+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1042_1109+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT | |
| 5 | g.112835099T>A | CA16025455 | APC | c.1557T>A (n.1557T>A) c.1946T>A (p.Ile649Asn) c.*1898T>A (n.*1898T>A) c.1838T>A (p.Ile613Asn) c.1892T>A (p.Ile631Asn) c.245T>A c.581T>A (p.Ile194Asn) c.*1214T>A (n.*1214T>A) c.230+6127T>A c.1922T>A (p.Ile641Asn) c.1817T>A (p.Ile606Asn) c.1808T>A (p.Ile603Asn) c.1769T>A (p.Ile590Asn) c.1715T>A (p.Ile572Asn) c.1619T>A (p.Ile540Asn) c.1589T>A (p.Ile530Asn) c.1514T>A (p.Ile505Asn) c.1412T>A (p.Ile471Asn) c.1043T>A (p.Ile348Asn) | |
| 5 | g.112835099T>C | CA16025456 | APC | c.1557T>C (n.1557T>C) c.1946T>C (p.Ile649Thr) c.*1898T>C (n.*1898T>C) c.1838T>C (p.Ile613Thr) c.1892T>C (p.Ile631Thr) c.245T>C c.581T>C (p.Ile194Thr) c.*1214T>C (n.*1214T>C) c.230+6127T>C c.1922T>C (p.Ile641Thr) c.1817T>C (p.Ile606Thr) c.1808T>C (p.Ile603Thr) c.1769T>C (p.Ile590Thr) c.1715T>C (p.Ile572Thr) c.1619T>C (p.Ile540Thr) c.1589T>C (p.Ile530Thr) c.1514T>C (p.Ile505Thr) c.1412T>C (p.Ile471Thr) c.1043T>C (p.Ile348Thr) | ClinVar dbSNP |
| 5 | g.112835099T>G | CA16025457 | APC | c.1557T>G (n.1557T>G) c.1946T>G (p.Ile649Ser) c.*1898T>G (n.*1898T>G) c.1838T>G (p.Ile613Ser) c.1892T>G (p.Ile631Ser) c.245T>G c.581T>G (p.Ile194Ser) c.*1214T>G (n.*1214T>G) c.230+6127T>G c.1922T>G (p.Ile641Ser) c.1817T>G (p.Ile606Ser) c.1808T>G (p.Ile603Ser) c.1769T>G (p.Ile590Ser) c.1715T>G (p.Ile572Ser) c.1619T>G (p.Ile540Ser) c.1589T>G (p.Ile530Ser) c.1514T>G (p.Ile505Ser) c.1412T>G (p.Ile471Ser) c.1043T>G (p.Ile348Ser) | gnomAD v4 |
| 5 | g.112835099T= | CA1573471319 | APC | c.1557T= (n.1557T=) c.1946T= (p.Ile649=) c.*1898T= (n.*1898T=) c.1838T= (p.Ile613=) c.1892T= (p.Ile631=) c.245T= c.581T= (p.Ile194=) c.*1214T= (n.*1214T=) c.230+6127T= c.1922T= (p.Ile641=) c.1817T= (p.Ile606=) c.1808T= (p.Ile603=) c.1769T= (p.Ile590=) c.1715T= (p.Ile572=) c.1619T= (p.Ile540=) c.1589T= (p.Ile530=) c.1514T= (p.Ile505=) c.1412T= (p.Ile471=) c.1043T= (p.Ile348=) | |
| 5 | g.112835100del | CA1573471326 | APC | c.1558del (n.1558del) c.1947del (p.Ile650LeufsTer14) c.*1899del (n.*1899del) c.1839del (p.Ile614LeufsTer14) c.1893del (p.Ile632LeufsTer14) c.246del c.582del (p.Ile195LeufsTer14) c.*1215del (n.*1215del) c.230+6128del c.1923del (p.Ile642LeufsTer14) c.1818del (p.Ile607LeufsTer14) c.1809del (p.Ile604LeufsTer14) c.1770del (p.Ile591LeufsTer14) c.1716del (p.Ile573LeufsTer14) c.1620del (p.Ile541LeufsTer14) c.1590del (p.Ile531LeufsTer14) c.1515del (p.Ile506LeufsTer14) c.1413del (p.Ile472LeufsTer14) c.1044del (p.Ile349LeufsTer14) | dbSNP |
| 5 | g.112835099_112835111delinsAAT | CA279732 | APC | c.1557_1569delinsAAT (n.1557_1569delinsAAT) c.1946_1958delinsAAT (p.Ile649LysfsTer2) c.*1898_*1910delinsAAT (n.*1898_*1910delinsAAT) c.1838_1850delinsAAT (p.Ile613LysfsTer2) c.1892_1904delinsAAT (p.Ile631LysfsTer2) c.245_257delinsAAT c.581_593delinsAAT (p.Ile194LysfsTer2) c.*1214_*1226delinsAAT (n.*1214_*1226delinsAAT) c.230+6127_230+6139delinsAAT c.1922_1934delinsAAT (p.Ile641LysfsTer2) c.1817_1829delinsAAT (p.Ile606LysfsTer2) c.1808_1820delinsAAT (p.Ile603LysfsTer2) c.1769_1781delinsAAT (p.Ile590LysfsTer2) c.1715_1727delinsAAT (p.Ile572LysfsTer2) c.1619_1631delinsAAT (p.Ile540LysfsTer2) c.1589_1601delinsAAT (p.Ile530LysfsTer2) c.1514_1526delinsAAT (p.Ile505LysfsTer2) c.1412_1424delinsAAT (p.Ile471LysfsTer2) c.1043_1055delinsAAT (p.Ile348LysfsTer2) | ClinVar dbSNP |
| 5 | g.112835102_112835193del | CA891842600 | APC | c.1560_1623+28del c.1949_2012+28del c.*1901_*1964+28del c.1841_1904+28del c.1895_1958+28del c.248_311+28del c.584_647+28del c.*1217_*1280+28del c.230+6130_230+6221del c.1925_1988+28del c.1820_1883+28del c.1811_1874+28del c.1772_1835+28del c.1718_1781+28del c.1622_1685+28del c.1592_1655+28del c.1517_1580+28del c.1415_1478+28del c.1046_1109+28del | ClinVar dbSNP |
| 5 | g.112835100T>A | CA445758908 | APC | c.1558T>A (n.1558T>A) c.1947T>A (p.Ile649=) c.*1899T>A (n.*1899T>A) c.1839T>A (p.Ile613=) c.1893T>A (p.Ile631=) c.246T>A c.582T>A (p.Ile194=) c.*1215T>A (n.*1215T>A) c.230+6128T>A c.1923T>A (p.Ile641=) c.1818T>A (p.Ile606=) c.1809T>A (p.Ile603=) c.1770T>A (p.Ile590=) c.1716T>A (p.Ile572=) c.1620T>A (p.Ile540=) c.1590T>A (p.Ile530=) c.1515T>A (p.Ile505=) c.1413T>A (p.Ile471=) c.1044T>A (p.Ile348=) | |
| 5 | g.112835100T>C | CA445758909 | APC | c.1558T>C (n.1558T>C) c.1947T>C (p.Ile649=) c.*1899T>C (n.*1899T>C) c.1839T>C (p.Ile613=) c.1893T>C (p.Ile631=) c.246T>C c.582T>C (p.Ile194=) c.*1215T>C (n.*1215T>C) c.230+6128T>C c.1923T>C (p.Ile641=) c.1818T>C (p.Ile606=) c.1809T>C (p.Ile603=) c.1770T>C (p.Ile590=) c.1716T>C (p.Ile572=) c.1620T>C (p.Ile540=) c.1590T>C (p.Ile530=) c.1515T>C (p.Ile505=) c.1413T>C (p.Ile471=) c.1044T>C (p.Ile348=) | gnomAD v4 |
| 5 | g.112835100T>G | CA16025458 | APC | c.1558T>G (n.1558T>G) c.1947T>G (p.Ile649Met) c.*1899T>G (n.*1899T>G) c.1839T>G (p.Ile613Met) c.1893T>G (p.Ile631Met) c.246T>G c.582T>G (p.Ile194Met) c.*1215T>G (n.*1215T>G) c.230+6128T>G c.1923T>G (p.Ile641Met) c.1818T>G (p.Ile606Met) c.1809T>G (p.Ile603Met) c.1770T>G (p.Ile590Met) c.1716T>G (p.Ile572Met) c.1620T>G (p.Ile540Met) c.1590T>G (p.Ile530Met) c.1515T>G (p.Ile505Met) c.1413T>G (p.Ile471Met) c.1044T>G (p.Ile348Met) | |
| 5 | g.112835101A>C | CA16025459 | APC | c.1559A>C (n.1559A>C) c.1948A>C (p.Ile650Leu) c.*1900A>C (n.*1900A>C) c.1840A>C (p.Ile614Leu) c.1894A>C (p.Ile632Leu) c.247A>C c.583A>C (p.Ile195Leu) c.*1216A>C (n.*1216A>C) c.230+6129A>C c.1924A>C (p.Ile642Leu) c.1819A>C (p.Ile607Leu) c.1810A>C (p.Ile604Leu) c.1771A>C (p.Ile591Leu) c.1717A>C (p.Ile573Leu) c.1621A>C (p.Ile541Leu) c.1591A>C (p.Ile531Leu) c.1516A>C (p.Ile506Leu) c.1414A>C (p.Ile472Leu) c.1045A>C (p.Ile349Leu) | |
| 5 | g.112835101A>G | CA16025460 | APC | c.1559A>G (n.1559A>G) c.1948A>G (p.Ile650Val) c.*1900A>G (n.*1900A>G) c.1840A>G (p.Ile614Val) c.1894A>G (p.Ile632Val) c.247A>G c.583A>G (p.Ile195Val) c.*1216A>G (n.*1216A>G) c.230+6129A>G c.1924A>G (p.Ile642Val) c.1819A>G (p.Ile607Val) c.1810A>G (p.Ile604Val) c.1771A>G (p.Ile591Val) c.1717A>G (p.Ile573Val) c.1621A>G (p.Ile541Val) c.1591A>G (p.Ile531Val) c.1516A>G (p.Ile506Val) c.1414A>G (p.Ile472Val) c.1045A>G (p.Ile349Val) | ClinVar |