UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.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.112834974_112834990del | CA2582341315 | APC | c.1432_1448del (p.Glu478CysfsTer15) c.1821_1837del (p.Leu607PhefsTer7) c.*1773_*1789del (n.*1773_*1789del) c.1713_1729del (p.Leu571PhefsTer7) c.1767_1783del (p.Leu589PhefsTer7) c.120_136del c.456_472del (p.Leu152PhefsTer7) c.*1089_*1105del (n.*1089_*1105del) c.230+6002_230+6018del c.1797_1813del (p.Leu599PhefsTer7) c.1692_1708del (p.Leu564PhefsTer7) c.1683_1699del (p.Leu561PhefsTer7) c.1644_1660del (p.Leu548PhefsTer7) c.1590_1606del (p.Leu530PhefsTer7) c.1494_1510del (p.Leu498PhefsTer7) c.1464_1480del (p.Leu488PhefsTer7) c.1389_1405del (p.Leu463PhefsTer7) c.1287_1303del (p.Leu429PhefsTer7) c.918_934del (p.Leu306PhefsTer7) | ClinVar |
| 5 | g.112834972_112834973del | CA645562809 | APC | c.1430_1431del (p.Ile477ArgfsTer21) c.1819_1820del (p.Leu607GlufsTer12) c.*1771_*1772del (n.*1771_*1772del) c.1711_1712del (p.Leu571GlufsTer12) c.1765_1766del (p.Leu589GlufsTer12) c.118_119del c.454_455del (p.Leu152GlufsTer12) c.*1087_*1088del (n.*1087_*1088del) c.230+6000_230+6001del c.1795_1796del (p.Leu599GlufsTer12) c.1690_1691del (p.Leu564GlufsTer12) c.1681_1682del (p.Leu561GlufsTer12) c.1642_1643del (p.Leu548GlufsTer12) c.1588_1589del (p.Leu530GlufsTer12) c.1492_1493del (p.Leu498GlufsTer12) c.1462_1463del (p.Leu488GlufsTer12) c.1387_1388del (p.Leu463GlufsTer12) c.1285_1286del (p.Leu429GlufsTer12) c.916_917del (p.Leu306GlufsTer12) | COSMIC |
| 5 | g.112834973del | CA645562810 | APC | c.1431del (p.Ile477MetfsTer?) c.1820del (p.Leu607Ter) c.*1772del (n.*1772del) c.1712del (p.Leu571Ter) c.1766del (p.Leu589Ter) c.119del c.455del (p.Leu152Ter) c.*1088del (n.*1088del) c.230+6001del c.1796del (p.Leu599Ter) c.1691del (p.Leu564Ter) c.1682del (p.Leu561Ter) c.1643del (p.Leu548Ter) c.1589del (p.Leu530Ter) c.1493del (p.Leu498Ter) c.1463del (p.Leu488Ter) c.1388del (p.Leu463Ter) c.1286del (p.Leu429Ter) c.917del (p.Leu306Ter) | COSMIC |
| 5 | g.112834973T>A | CA16025174 | APC | c.1431T>A (p.Ile477=) c.1820T>A (p.Leu607Ter) c.*1772T>A (n.*1772T>A) c.1712T>A (p.Leu571Ter) c.1766T>A (p.Leu589Ter) c.119T>A c.455T>A (p.Leu152Ter) c.*1088T>A (n.*1088T>A) c.230+6001T>A c.1796T>A (p.Leu599Ter) c.1691T>A (p.Leu564Ter) c.1682T>A (p.Leu561Ter) c.1643T>A (p.Leu548Ter) c.1589T>A (p.Leu530Ter) c.1493T>A (p.Leu498Ter) c.1463T>A (p.Leu488Ter) c.1388T>A (p.Leu463Ter) c.1286T>A (p.Leu429Ter) c.917T>A (p.Leu306Ter) | |
| 5 | g.112834973T>C | CA16025175 | APC | c.1431T>C (p.Ile477=) c.1820T>C (p.Leu607Ser) c.*1772T>C (n.*1772T>C) c.1712T>C (p.Leu571Ser) c.1766T>C (p.Leu589Ser) c.119T>C c.455T>C (p.Leu152Ser) c.*1088T>C (n.*1088T>C) c.230+6001T>C c.1796T>C (p.Leu599Ser) c.1691T>C (p.Leu564Ser) c.1682T>C (p.Leu561Ser) c.1643T>C (p.Leu548Ser) c.1589T>C (p.Leu530Ser) c.1493T>C (p.Leu498Ser) c.1463T>C (p.Leu488Ser) c.1388T>C (p.Leu463Ser) c.1286T>C (p.Leu429Ser) c.917T>C (p.Leu306Ser) | ClinVar dbSNP |
| 5 | g.112834973T>G | CA16025176 | APC | c.1431T>G (p.Ile477Met) c.1820T>G (p.Leu607Trp) c.*1772T>G (n.*1772T>G) c.1712T>G (p.Leu571Trp) c.1766T>G (p.Leu589Trp) c.119T>G c.455T>G (p.Leu152Trp) c.*1088T>G (n.*1088T>G) c.230+6001T>G c.1796T>G (p.Leu599Trp) c.1691T>G (p.Leu564Trp) c.1682T>G (p.Leu561Trp) c.1643T>G (p.Leu548Trp) c.1589T>G (p.Leu530Trp) c.1493T>G (p.Leu498Trp) c.1463T>G (p.Leu488Trp) c.1388T>G (p.Leu463Trp) c.1286T>G (p.Leu429Trp) c.917T>G (p.Leu306Trp) | |
| 5 | g.112834973T= | CA1573470456 | APC | c.1431T= (p.Ile477=) c.1820T= (p.Leu607=) c.*1772T= (n.*1772T=) c.1712T= (p.Leu571=) c.1766T= (p.Leu589=) c.119T= c.455T= (p.Leu152=) c.*1088T= (n.*1088T=) c.230+6001T= c.1796T= (p.Leu599=) c.1691T= (p.Leu564=) c.1682T= (p.Leu561=) c.1643T= (p.Leu548=) c.1589T= (p.Leu530=) c.1493T= (p.Leu498=) c.1463T= (p.Leu488=) c.1388T= (p.Leu463=) c.1286T= (p.Leu429=) c.917T= (p.Leu306=) | |
| 5 | g.112834973_112834974dup | CA645372421 | APC | c.1431_1432dup (p.Glu478ValfsTer?) c.1820_1821dup (p.Ser608Ter) c.*1772_*1773dup (n.*1772_*1773dup) c.1712_1713dup (p.Ser572Ter) c.1766_1767dup (p.Ser590Ter) c.119_120dup c.455_456dup (p.Ser153Ter) c.*1088_*1089dup (n.*1088_*1089dup) c.230+6001_230+6002dup c.1796_1797dup (p.Ser600Ter) c.1691_1692dup (p.Ser565Ter) c.1682_1683dup (p.Ser562Ter) c.1643_1644dup (p.Ser549Ter) c.1589_1590dup (p.Ser531Ter) c.1493_1494dup (p.Ser499Ter) c.1463_1464dup (p.Ser489Ter) c.1388_1389dup (p.Ser464Ter) c.1286_1287dup (p.Ser430Ter) c.917_918dup (p.Ser307Ter) | ClinVar dbSNP |
| 5 | g.112834975_112834985del | CA2695205039 | APC | c.1433_1443del (p.Glu478GlyfsTer17) c.1822_1832del (p.Ser608GlufsTer8) c.*1774_*1784del (n.*1774_*1784del) c.1714_1724del (p.Ser572GlufsTer8) c.1768_1778del (p.Ser590GlufsTer8) c.121_131del c.457_467del (p.Ser153GlufsTer8) c.*1090_*1100del (n.*1090_*1100del) c.230+6003_230+6013del c.1798_1808del (p.Ser600GlufsTer8) c.1693_1703del (p.Ser565GlufsTer8) c.1684_1694del (p.Ser562GlufsTer8) c.1645_1655del (p.Ser549GlufsTer8) c.1591_1601del (p.Ser531GlufsTer8) c.1495_1505del (p.Ser499GlufsTer8) c.1465_1475del (p.Ser489GlufsTer8) c.1390_1400del (p.Ser464GlufsTer8) c.1288_1298del (p.Ser430GlufsTer8) c.919_929del (p.Ser307GlufsTer8) | |
| 5 | g.112834974G>A | CA445758415 | APC | c.1432G>A (p.Glu478Lys) c.1821G>A (p.Leu607=) c.*1773G>A (n.*1773G>A) c.1713G>A (p.Leu571=) c.1767G>A (p.Leu589=) c.120G>A c.456G>A (p.Leu152=) c.*1089G>A (n.*1089G>A) c.230+6002G>A c.1797G>A (p.Leu599=) c.1692G>A (p.Leu564=) c.1683G>A (p.Leu561=) c.1644G>A (p.Leu548=) c.1590G>A (p.Leu530=) c.1494G>A (p.Leu498=) c.1464G>A (p.Leu488=) c.1389G>A (p.Leu463=) c.1287G>A (p.Leu429=) c.918G>A (p.Leu306=) | dbSNP |
| 5 | g.112834974G>C | CA16025177 | APC | c.1432G>C (p.Glu478Gln) c.1821G>C (p.Leu607Phe) c.*1773G>C (n.*1773G>C) c.1713G>C (p.Leu571Phe) c.1767G>C (p.Leu589Phe) c.120G>C c.456G>C (p.Leu152Phe) c.*1089G>C (n.*1089G>C) c.230+6002G>C c.1797G>C (p.Leu599Phe) c.1692G>C (p.Leu564Phe) c.1683G>C (p.Leu561Phe) c.1644G>C (p.Leu548Phe) c.1590G>C (p.Leu530Phe) c.1494G>C (p.Leu498Phe) c.1464G>C (p.Leu488Phe) c.1389G>C (p.Leu463Phe) c.1287G>C (p.Leu429Phe) c.918G>C (p.Leu306Phe) | dbSNP gnomAD v4 |
| 5 | g.112834974G>T | CA16025178 | APC | c.1432G>T (p.Glu478Ter) c.1821G>T (p.Leu607Phe) c.*1773G>T (n.*1773G>T) c.1713G>T (p.Leu571Phe) c.1767G>T (p.Leu589Phe) c.120G>T c.456G>T (p.Leu152Phe) c.*1089G>T (n.*1089G>T) c.230+6002G>T c.1797G>T (p.Leu599Phe) c.1692G>T (p.Leu564Phe) c.1683G>T (p.Leu561Phe) c.1644G>T (p.Leu548Phe) c.1590G>T (p.Leu530Phe) c.1494G>T (p.Leu498Phe) c.1464G>T (p.Leu488Phe) c.1389G>T (p.Leu463Phe) c.1287G>T (p.Leu429Phe) c.918G>T (p.Leu306Phe) | dbSNP |
| 5 | g.112834975A>C | CA16025179 | APC | c.1433A>C (p.Glu478Ala) c.1822A>C (p.Ser608Arg) c.*1774A>C (n.*1774A>C) c.1714A>C (p.Ser572Arg) c.1768A>C (p.Ser590Arg) c.121A>C c.457A>C (p.Ser153Arg) c.*1090A>C (n.*1090A>C) c.230+6003A>C c.1798A>C (p.Ser600Arg) c.1693A>C (p.Ser565Arg) c.1684A>C (p.Ser562Arg) c.1645A>C (p.Ser549Arg) c.1591A>C (p.Ser531Arg) c.1495A>C (p.Ser499Arg) c.1465A>C (p.Ser489Arg) c.1390A>C (p.Ser464Arg) c.1288A>C (p.Ser430Arg) c.919A>C (p.Ser307Arg) | |
| 5 | g.112834975A>G | CA16025180 | APC | c.1433A>G (p.Glu478Gly) c.1822A>G (p.Ser608Gly) c.*1774A>G (n.*1774A>G) c.1714A>G (p.Ser572Gly) c.1768A>G (p.Ser590Gly) c.121A>G c.457A>G (p.Ser153Gly) c.*1090A>G (n.*1090A>G) c.230+6003A>G c.1798A>G (p.Ser600Gly) c.1693A>G (p.Ser565Gly) c.1684A>G (p.Ser562Gly) c.1645A>G (p.Ser549Gly) c.1591A>G (p.Ser531Gly) c.1495A>G (p.Ser499Gly) c.1465A>G (p.Ser489Gly) c.1390A>G (p.Ser464Gly) c.1288A>G (p.Ser430Gly) c.919A>G (p.Ser307Gly) | |
| 5 | g.112834975A>T | CA16025181 | APC | c.1433A>T (p.Glu478Val) c.1822A>T (p.Ser608Cys) c.*1774A>T (n.*1774A>T) c.1714A>T (p.Ser572Cys) c.1768A>T (p.Ser590Cys) c.121A>T c.457A>T (p.Ser153Cys) c.*1090A>T (n.*1090A>T) c.230+6003A>T c.1798A>T (p.Ser600Cys) c.1693A>T (p.Ser565Cys) c.1684A>T (p.Ser562Cys) c.1645A>T (p.Ser549Cys) c.1591A>T (p.Ser531Cys) c.1495A>T (p.Ser499Cys) c.1465A>T (p.Ser489Cys) c.1390A>T (p.Ser464Cys) c.1288A>T (p.Ser430Cys) c.919A>T (p.Ser307Cys) | dbSNP |
| 5 | g.112834976G>A | CA16025182 | APC | c.1434G>A (p.Glu478=) c.1823G>A (p.Ser608Asn) c.*1775G>A (n.*1775G>A) c.1715G>A (p.Ser572Asn) c.1769G>A (p.Ser590Asn) c.122G>A c.458G>A (p.Ser153Asn) c.*1091G>A (n.*1091G>A) c.230+6004G>A c.1799G>A (p.Ser600Asn) c.1694G>A (p.Ser565Asn) c.1685G>A (p.Ser562Asn) c.1646G>A (p.Ser549Asn) c.1592G>A (p.Ser531Asn) c.1496G>A (p.Ser499Asn) c.1466G>A (p.Ser489Asn) c.1391G>A (p.Ser464Asn) c.1289G>A (p.Ser430Asn) c.920G>A (p.Ser307Asn) | dbSNP COSMIC |
| 5 | g.112834976G>C | CA16025183 | APC | c.1434G>C (p.Glu478Asp) c.1823G>C (p.Ser608Thr) c.*1775G>C (n.*1775G>C) c.1715G>C (p.Ser572Thr) c.1769G>C (p.Ser590Thr) c.122G>C c.458G>C (p.Ser153Thr) c.*1091G>C (n.*1091G>C) c.230+6004G>C c.1799G>C (p.Ser600Thr) c.1694G>C (p.Ser565Thr) c.1685G>C (p.Ser562Thr) c.1646G>C (p.Ser549Thr) c.1592G>C (p.Ser531Thr) c.1496G>C (p.Ser499Thr) c.1466G>C (p.Ser489Thr) c.1391G>C (p.Ser464Thr) c.1289G>C (p.Ser430Thr) c.920G>C (p.Ser307Thr) | dbSNP |
| 5 | g.112834976G>T | CA16025184 | APC | c.1434G>T (p.Glu478Asp) c.1823G>T (p.Ser608Ile) c.*1775G>T (n.*1775G>T) c.1715G>T (p.Ser572Ile) c.1769G>T (p.Ser590Ile) c.122G>T c.458G>T (p.Ser153Ile) c.*1091G>T (n.*1091G>T) c.230+6004G>T c.1799G>T (p.Ser600Ile) c.1694G>T (p.Ser565Ile) c.1685G>T (p.Ser562Ile) c.1646G>T (p.Ser549Ile) c.1592G>T (p.Ser531Ile) c.1496G>T (p.Ser499Ile) c.1466G>T (p.Ser489Ile) c.1391G>T (p.Ser464Ile) c.1289G>T (p.Ser430Ile) c.920G>T (p.Ser307Ile) | |
| 5 | g.112834977T>A | CA16025185 | APC | c.1435T>A (p.Cys479Ser) c.1824T>A (p.Ser608Arg) c.*1776T>A (n.*1776T>A) c.1716T>A (p.Ser572Arg) c.1770T>A (p.Ser590Arg) c.123T>A c.459T>A (p.Ser153Arg) c.*1092T>A (n.*1092T>A) c.230+6005T>A c.1800T>A (p.Ser600Arg) c.1695T>A (p.Ser565Arg) c.1686T>A (p.Ser562Arg) c.1647T>A (p.Ser549Arg) c.1593T>A (p.Ser531Arg) c.1497T>A (p.Ser499Arg) c.1467T>A (p.Ser489Arg) c.1392T>A (p.Ser464Arg) c.1290T>A (p.Ser430Arg) c.921T>A (p.Ser307Arg) | dbSNP |
| 5 | g.112834977T>C | CA445758425 | APC | c.1435T>C (p.Cys479Arg) c.1824T>C (p.Ser608=) c.*1776T>C (n.*1776T>C) c.1716T>C (p.Ser572=) c.1770T>C (p.Ser590=) c.123T>C c.459T>C (p.Ser153=) c.*1092T>C (n.*1092T>C) c.230+6005T>C c.1800T>C (p.Ser600=) c.1695T>C (p.Ser565=) c.1686T>C (p.Ser562=) c.1647T>C (p.Ser549=) c.1593T>C (p.Ser531=) c.1497T>C (p.Ser499=) c.1467T>C (p.Ser489=) c.1392T>C (p.Ser464=) c.1290T>C (p.Ser430=) c.921T>C (p.Ser307=) | |
| 5 | g.112834977T>G | CA16025186 | APC | c.1435T>G (p.Cys479Gly) c.1824T>G (p.Ser608Arg) c.*1776T>G (n.*1776T>G) c.1716T>G (p.Ser572Arg) c.1770T>G (p.Ser590Arg) c.123T>G c.459T>G (p.Ser153Arg) c.*1092T>G (n.*1092T>G) c.230+6005T>G c.1800T>G (p.Ser600Arg) c.1695T>G (p.Ser565Arg) c.1686T>G (p.Ser562Arg) c.1647T>G (p.Ser549Arg) c.1593T>G (p.Ser531Arg) c.1497T>G (p.Ser499Arg) c.1467T>G (p.Ser489Arg) c.1392T>G (p.Ser464Arg) c.1290T>G (p.Ser430Arg) c.921T>G (p.Ser307Arg) | |
| 5 | g.112834978G>A | CA16025187 | APC | c.1436G>A (p.Cys479Tyr) c.1825G>A (p.Ala609Thr) c.*1777G>A (n.*1777G>A) c.1717G>A (p.Ala573Thr) c.1771G>A (p.Ala591Thr) c.124G>A c.460G>A (p.Ala154Thr) c.*1093G>A (n.*1093G>A) c.230+6006G>A c.1801G>A (p.Ala601Thr) c.1696G>A (p.Ala566Thr) c.1687G>A (p.Ala563Thr) c.1648G>A (p.Ala550Thr) c.1594G>A (p.Ala532Thr) c.1498G>A (p.Ala500Thr) c.1468G>A (p.Ala490Thr) c.1393G>A (p.Ala465Thr) c.1291G>A (p.Ala431Thr) c.922G>A (p.Ala308Thr) | dbSNP |
| 5 | g.112834978G>C | CA16025188 | APC | c.1436G>C (p.Cys479Ser) c.1825G>C (p.Ala609Pro) c.*1777G>C (n.*1777G>C) c.1717G>C (p.Ala573Pro) c.1771G>C (p.Ala591Pro) c.124G>C c.460G>C (p.Ala154Pro) c.*1093G>C (n.*1093G>C) c.230+6006G>C c.1801G>C (p.Ala601Pro) c.1696G>C (p.Ala566Pro) c.1687G>C (p.Ala563Pro) c.1648G>C (p.Ala550Pro) c.1594G>C (p.Ala532Pro) c.1498G>C (p.Ala500Pro) c.1468G>C (p.Ala490Pro) c.1393G>C (p.Ala465Pro) c.1291G>C (p.Ala431Pro) c.922G>C (p.Ala308Pro) | dbSNP |
| 5 | g.112834978G>T | CA16025189 | APC | c.1436G>T (p.Cys479Phe) c.1825G>T (p.Ala609Ser) c.*1777G>T (n.*1777G>T) c.1717G>T (p.Ala573Ser) c.1771G>T (p.Ala591Ser) c.124G>T c.460G>T (p.Ala154Ser) c.*1093G>T (n.*1093G>T) c.230+6006G>T c.1801G>T (p.Ala601Ser) c.1696G>T (p.Ala566Ser) c.1687G>T (p.Ala563Ser) c.1648G>T (p.Ala550Ser) c.1594G>T (p.Ala532Ser) c.1498G>T (p.Ala500Ser) c.1468G>T (p.Ala490Ser) c.1393G>T (p.Ala465Ser) c.1291G>T (p.Ala431Ser) c.922G>T (p.Ala308Ser) | |
| 5 | g.112834979C>A | CA16025190 | APC | c.1437C>A (p.Cys479Ter) c.1826C>A (p.Ala609Asp) c.*1778C>A (n.*1778C>A) c.1718C>A (p.Ala573Asp) c.1772C>A (p.Ala591Asp) c.125C>A c.461C>A (p.Ala154Asp) c.*1094C>A (n.*1094C>A) c.230+6007C>A c.1802C>A (p.Ala601Asp) c.1697C>A (p.Ala566Asp) c.1688C>A (p.Ala563Asp) c.1649C>A (p.Ala550Asp) c.1595C>A (p.Ala532Asp) c.1499C>A (p.Ala500Asp) c.1469C>A (p.Ala490Asp) c.1394C>A (p.Ala465Asp) c.1292C>A (p.Ala431Asp) c.923C>A (p.Ala308Asp) | dbSNP |
| 5 | g.112834979C>G | CA16025191 | APC | c.1437C>G (p.Cys479Trp) c.1826C>G (p.Ala609Gly) c.*1778C>G (n.*1778C>G) c.1718C>G (p.Ala573Gly) c.1772C>G (p.Ala591Gly) c.125C>G c.461C>G (p.Ala154Gly) c.*1094C>G (n.*1094C>G) c.230+6007C>G c.1802C>G (p.Ala601Gly) c.1697C>G (p.Ala566Gly) c.1688C>G (p.Ala563Gly) c.1649C>G (p.Ala550Gly) c.1595C>G (p.Ala532Gly) c.1499C>G (p.Ala500Gly) c.1469C>G (p.Ala490Gly) c.1394C>G (p.Ala465Gly) c.1292C>G (p.Ala431Gly) c.923C>G (p.Ala308Gly) | dbSNP |
| 5 | g.112834979C>T | CA16025192 | APC | c.1437C>T (p.Cys479=) c.1826C>T (p.Ala609Val) c.*1778C>T (n.*1778C>T) c.1718C>T (p.Ala573Val) c.1772C>T (p.Ala591Val) c.125C>T c.461C>T (p.Ala154Val) c.*1094C>T (n.*1094C>T) c.230+6007C>T c.1802C>T (p.Ala601Val) c.1697C>T (p.Ala566Val) c.1688C>T (p.Ala563Val) c.1649C>T (p.Ala550Val) c.1595C>T (p.Ala532Val) c.1499C>T (p.Ala500Val) c.1469C>T (p.Ala490Val) c.1394C>T (p.Ala465Val) c.1292C>T (p.Ala431Val) c.923C>T (p.Ala308Val) | dbSNP gnomAD v4 |
| 5 | g.112834980del | CA891841960 | APC | c.1438del (p.Met481TrpfsTer?) c.1827del (p.Leu610TyrfsTer18) c.*1779del (n.*1779del) c.1719del (p.Leu574TyrfsTer18) c.1773del (p.Leu592TyrfsTer18) c.126del c.462del (p.Leu155TyrfsTer18) c.*1095del (n.*1095del) c.230+6008del c.1803del (p.Leu602TyrfsTer18) c.1698del (p.Leu567TyrfsTer18) c.1689del (p.Leu564TyrfsTer18) c.1650del (p.Leu551TyrfsTer18) c.1596del (p.Leu533TyrfsTer18) c.1500del (p.Leu501TyrfsTer18) c.1470del (p.Leu491TyrfsTer18) c.1395del (p.Leu466TyrfsTer18) c.1293del (p.Leu432TyrfsTer18) c.924del (p.Leu309TyrfsTer18) | |
| 5 | g.112834980C>A | CA445758434 | APC | c.1438C>A (p.Leu480Ile) c.1827C>A (p.Ala609=) c.*1779C>A (n.*1779C>A) c.1719C>A (p.Ala573=) c.1773C>A (p.Ala591=) c.126C>A c.462C>A (p.Ala154=) c.*1095C>A (n.*1095C>A) c.230+6008C>A c.1803C>A (p.Ala601=) c.1698C>A (p.Ala566=) c.1689C>A (p.Ala563=) c.1650C>A (p.Ala550=) c.1596C>A (p.Ala532=) c.1500C>A (p.Ala500=) c.1470C>A (p.Ala490=) c.1395C>A (p.Ala465=) c.1293C>A (p.Ala431=) c.924C>A (p.Ala308=) | dbSNP |
| 5 | g.112834980C= | CA1573470462 | APC | c.1438C= (p.Leu480=) c.1827C= (p.Ala609=) c.*1779C= (n.*1779C=) c.1719C= (p.Ala573=) c.1773C= (p.Ala591=) c.126C= c.462C= (p.Ala154=) c.*1095C= (n.*1095C=) c.230+6008C= c.1803C= (p.Ala601=) c.1698C= (p.Ala566=) c.1689C= (p.Ala563=) c.1650C= (p.Ala550=) c.1596C= (p.Ala532=) c.1500C= (p.Ala500=) c.1470C= (p.Ala490=) c.1395C= (p.Ala465=) c.1293C= (p.Ala431=) c.924C= (p.Ala308=) | |
| 5 | g.112834980C>G | CA445758437 | APC | c.1438C>G (p.Leu480Val) c.1827C>G (p.Ala609=) c.*1779C>G (n.*1779C>G) c.1719C>G (p.Ala573=) c.1773C>G (p.Ala591=) c.126C>G c.462C>G (p.Ala154=) c.*1095C>G (n.*1095C>G) c.230+6008C>G c.1803C>G (p.Ala601=) c.1698C>G (p.Ala566=) c.1689C>G (p.Ala563=) c.1650C>G (p.Ala550=) c.1596C>G (p.Ala532=) c.1500C>G (p.Ala500=) c.1470C>G (p.Ala490=) c.1395C>G (p.Ala465=) c.1293C>G (p.Ala431=) c.924C>G (p.Ala308=) | ClinVar dbSNP |
| 5 | g.112834980C>T | CA445758435 | APC | c.1438C>T (p.Leu480Phe) c.1827C>T (p.Ala609=) c.*1779C>T (n.*1779C>T) c.1719C>T (p.Ala573=) c.1773C>T (p.Ala591=) c.126C>T c.462C>T (p.Ala154=) c.*1095C>T (n.*1095C>T) c.230+6008C>T c.1803C>T (p.Ala601=) c.1698C>T (p.Ala566=) c.1689C>T (p.Ala563=) c.1650C>T (p.Ala550=) c.1596C>T (p.Ala532=) c.1500C>T (p.Ala500=) c.1470C>T (p.Ala490=) c.1395C>T (p.Ala465=) c.1293C>T (p.Ala431=) c.924C>T (p.Ala308=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112834981_112834994del | CA2582341316 | APC | c.1439_1452del (p.Leu480GlnfsTer14) c.1828_1841del (p.Leu610SerfsTer5) c.*1780_*1793del (n.*1780_*1793del) c.1720_1733del (p.Leu574SerfsTer5) c.1774_1787del (p.Leu592SerfsTer5) c.127_140del c.463_476del (p.Leu155SerfsTer5) c.*1096_*1109del (n.*1096_*1109del) c.230+6009_230+6022del c.1804_1817del (p.Leu602SerfsTer5) c.1699_1712del (p.Leu567SerfsTer5) c.1690_1703del (p.Leu564SerfsTer5) c.1651_1664del (p.Leu551SerfsTer5) c.1597_1610del (p.Leu533SerfsTer5) c.1501_1514del (p.Leu501SerfsTer5) c.1471_1484del (p.Leu491SerfsTer5) c.1396_1409del (p.Leu466SerfsTer5) c.1294_1307del (p.Leu432SerfsTer5) c.925_938del (p.Leu309SerfsTer5) | ClinVar |
| 5 | g.112834981T>A | CA16025193 | APC | c.1439T>A (p.Leu480His) c.1828T>A (p.Leu610Ile) c.*1780T>A (n.*1780T>A) c.1720T>A (p.Leu574Ile) c.1774T>A (p.Leu592Ile) c.127T>A c.463T>A (p.Leu155Ile) c.*1096T>A (n.*1096T>A) c.230+6009T>A c.1804T>A (p.Leu602Ile) c.1699T>A (p.Leu567Ile) c.1690T>A (p.Leu564Ile) c.1651T>A (p.Leu551Ile) c.1597T>A (p.Leu533Ile) c.1501T>A (p.Leu501Ile) c.1471T>A (p.Leu491Ile) c.1396T>A (p.Leu466Ile) c.1294T>A (p.Leu432Ile) c.925T>A (p.Leu309Ile) | dbSNP |
| 5 | g.112834981T>C | CA445758440 | APC | c.1439T>C (p.Leu480Pro) c.1828T>C (p.Leu610=) c.*1780T>C (n.*1780T>C) c.1720T>C (p.Leu574=) c.1774T>C (p.Leu592=) c.127T>C c.463T>C (p.Leu155=) c.*1096T>C (n.*1096T>C) c.230+6009T>C c.1804T>C (p.Leu602=) c.1699T>C (p.Leu567=) c.1690T>C (p.Leu564=) c.1651T>C (p.Leu551=) c.1597T>C (p.Leu533=) c.1501T>C (p.Leu501=) c.1471T>C (p.Leu491=) c.1396T>C (p.Leu466=) c.1294T>C (p.Leu432=) c.925T>C (p.Leu309=) | |
| 5 | g.112834981T>G | CA16025194 | APC | c.1439T>G (p.Leu480Arg) c.1828T>G (p.Leu610Val) c.*1780T>G (n.*1780T>G) c.1720T>G (p.Leu574Val) c.1774T>G (p.Leu592Val) c.127T>G c.463T>G (p.Leu155Val) c.*1096T>G (n.*1096T>G) c.230+6009T>G c.1804T>G (p.Leu602Val) c.1699T>G (p.Leu567Val) c.1690T>G (p.Leu564Val) c.1651T>G (p.Leu551Val) c.1597T>G (p.Leu533Val) c.1501T>G (p.Leu501Val) c.1471T>G (p.Leu491Val) c.1396T>G (p.Leu466Val) c.1294T>G (p.Leu432Val) c.925T>G (p.Leu309Val) | |
| 5 | g.112834982del | CA645562811 | APC | c.1440del (p.Met481TrpfsTer?) c.1829del (p.Leu610TyrfsTer18) c.*1781del (n.*1781del) c.1721del (p.Leu574TyrfsTer18) c.1775del (p.Leu592TyrfsTer18) c.128del c.464del (p.Leu155TyrfsTer18) c.*1097del (n.*1097del) c.230+6010del c.1805del (p.Leu602TyrfsTer18) c.1700del (p.Leu567TyrfsTer18) c.1691del (p.Leu564TyrfsTer18) c.1652del (p.Leu551TyrfsTer18) c.1598del (p.Leu533TyrfsTer18) c.1502del (p.Leu501TyrfsTer18) c.1472del (p.Leu491TyrfsTer18) c.1397del (p.Leu466TyrfsTer18) c.1295del (p.Leu432TyrfsTer18) c.926del (p.Leu309TyrfsTer18) | COSMIC |
| 5 | g.112834982T>A | CA16025195 | APC | c.1440T>A (p.Leu480=) c.1829T>A (p.Leu610Ter) c.*1781T>A (n.*1781T>A) c.1721T>A (p.Leu574Ter) c.1775T>A (p.Leu592Ter) c.128T>A c.464T>A (p.Leu155Ter) c.*1097T>A (n.*1097T>A) c.230+6010T>A c.1805T>A (p.Leu602Ter) c.1700T>A (p.Leu567Ter) c.1691T>A (p.Leu564Ter) c.1652T>A (p.Leu551Ter) c.1598T>A (p.Leu533Ter) c.1502T>A (p.Leu501Ter) c.1472T>A (p.Leu491Ter) c.1397T>A (p.Leu466Ter) c.1295T>A (p.Leu432Ter) c.926T>A (p.Leu309Ter) | dbSNP COSMIC |
| 5 | g.112834982T>C | CA16025196 | APC | c.1440T>C (p.Leu480=) c.1829T>C (p.Leu610Ser) c.*1781T>C (n.*1781T>C) c.1721T>C (p.Leu574Ser) c.1775T>C (p.Leu592Ser) c.128T>C c.464T>C (p.Leu155Ser) c.*1097T>C (n.*1097T>C) c.230+6010T>C c.1805T>C (p.Leu602Ser) c.1700T>C (p.Leu567Ser) c.1691T>C (p.Leu564Ser) c.1652T>C (p.Leu551Ser) c.1598T>C (p.Leu533Ser) c.1502T>C (p.Leu501Ser) c.1472T>C (p.Leu491Ser) c.1397T>C (p.Leu466Ser) c.1295T>C (p.Leu432Ser) c.926T>C (p.Leu309Ser) | ClinVar dbSNP |
| 5 | g.112834982T>G | CA16025197 | APC | c.1440T>G (p.Leu480=) c.1829T>G (p.Leu610Ter) c.*1781T>G (n.*1781T>G) c.1721T>G (p.Leu574Ter) c.1775T>G (p.Leu592Ter) c.128T>G c.464T>G (p.Leu155Ter) c.*1097T>G (n.*1097T>G) c.230+6010T>G c.1805T>G (p.Leu602Ter) c.1700T>G (p.Leu567Ter) c.1691T>G (p.Leu564Ter) c.1652T>G (p.Leu551Ter) c.1598T>G (p.Leu533Ter) c.1502T>G (p.Leu501Ter) c.1472T>G (p.Leu491Ter) c.1397T>G (p.Leu466Ter) c.1295T>G (p.Leu432Ter) c.926T>G (p.Leu309Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112834982T= | CA1573470536 | APC | c.1440T= (p.Leu480=) c.1829T= (p.Leu610=) c.*1781T= (n.*1781T=) c.1721T= (p.Leu574=) c.1775T= (p.Leu592=) c.128T= c.464T= (p.Leu155=) c.*1097T= (n.*1097T=) c.230+6010T= c.1805T= (p.Leu602=) c.1700T= (p.Leu567=) c.1691T= (p.Leu564=) c.1652T= (p.Leu551=) c.1598T= (p.Leu533=) c.1502T= (p.Leu501=) c.1472T= (p.Leu491=) c.1397T= (p.Leu466=) c.1295T= (p.Leu432=) c.926T= (p.Leu309=) | |
| 5 | g.112834983A= | CA1573470541 | APC | c.1441A= (p.Met481=) c.1830A= (p.Leu610=) c.*1782A= (n.*1782A=) c.1722A= (p.Leu574=) c.1776A= (p.Leu592=) c.129A= c.465A= (p.Leu155=) c.*1098A= (n.*1098A=) c.230+6011A= c.1806A= (p.Leu602=) c.1701A= (p.Leu567=) c.1692A= (p.Leu564=) c.1653A= (p.Leu551=) c.1599A= (p.Leu533=) c.1503A= (p.Leu501=) c.1473A= (p.Leu491=) c.1398A= (p.Leu466=) c.1296A= (p.Leu432=) c.927A= (p.Leu309=) | |
| 5 | g.112834983A>C | CA16025198 | APC | c.1441A>C (p.Met481Leu) c.1830A>C (p.Leu610Phe) c.*1782A>C (n.*1782A>C) c.1722A>C (p.Leu574Phe) c.1776A>C (p.Leu592Phe) c.129A>C c.465A>C (p.Leu155Phe) c.*1098A>C (n.*1098A>C) c.230+6011A>C c.1806A>C (p.Leu602Phe) c.1701A>C (p.Leu567Phe) c.1692A>C (p.Leu564Phe) c.1653A>C (p.Leu551Phe) c.1599A>C (p.Leu533Phe) c.1503A>C (p.Leu501Phe) c.1473A>C (p.Leu491Phe) c.1398A>C (p.Leu466Phe) c.1296A>C (p.Leu432Phe) c.927A>C (p.Leu309Phe) | |
| 5 | g.112834983A>G | CA445758447 | APC | c.1441A>G (p.Met481Val) c.1830A>G (p.Leu610=) c.*1782A>G (n.*1782A>G) c.1722A>G (p.Leu574=) c.1776A>G (p.Leu592=) c.129A>G c.465A>G (p.Leu155=) c.*1098A>G (n.*1098A>G) c.230+6011A>G c.1806A>G (p.Leu602=) c.1701A>G (p.Leu567=) c.1692A>G (p.Leu564=) c.1653A>G (p.Leu551=) c.1599A>G (p.Leu533=) c.1503A>G (p.Leu501=) c.1473A>G (p.Leu491=) c.1398A>G (p.Leu466=) c.1296A>G (p.Leu432=) c.927A>G (p.Leu309=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112834983A>T | CA16025199 | APC | c.1441A>T (p.Met481Leu) c.1830A>T (p.Leu610Phe) c.*1782A>T (n.*1782A>T) c.1722A>T (p.Leu574Phe) c.1776A>T (p.Leu592Phe) c.129A>T c.465A>T (p.Leu155Phe) c.*1098A>T (n.*1098A>T) c.230+6011A>T c.1806A>T (p.Leu602Phe) c.1701A>T (p.Leu567Phe) c.1692A>T (p.Leu564Phe) c.1653A>T (p.Leu551Phe) c.1599A>T (p.Leu533Phe) c.1503A>T (p.Leu501Phe) c.1473A>T (p.Leu491Phe) c.1398A>T (p.Leu466Phe) c.1296A>T (p.Leu432Phe) c.927A>T (p.Leu309Phe) | ClinVar dbSNP |
| 5 | g.112834984T>A | CA16025200 | APC | c.1442T>A (p.Met481Lys) c.1831T>A (p.Trp611Arg) c.*1783T>A (n.*1783T>A) c.1723T>A (p.Trp575Arg) c.1777T>A (p.Trp593Arg) c.130T>A c.466T>A (p.Trp156Arg) c.*1099T>A (n.*1099T>A) c.230+6012T>A c.1807T>A (p.Trp603Arg) c.1702T>A (p.Trp568Arg) c.1693T>A (p.Trp565Arg) c.1654T>A (p.Trp552Arg) c.1600T>A (p.Trp534Arg) c.1504T>A (p.Trp502Arg) c.1474T>A (p.Trp492Arg) c.1399T>A (p.Trp467Arg) c.1297T>A (p.Trp433Arg) c.928T>A (p.Trp310Arg) | |
| 5 | g.112834984T>C | CA16025201 | APC | c.1442T>C (p.Met481Thr) c.1831T>C (p.Trp611Arg) c.*1783T>C (n.*1783T>C) c.1723T>C (p.Trp575Arg) c.1777T>C (p.Trp593Arg) c.130T>C c.466T>C (p.Trp156Arg) c.*1099T>C (n.*1099T>C) c.230+6012T>C c.1807T>C (p.Trp603Arg) c.1702T>C (p.Trp568Arg) c.1693T>C (p.Trp565Arg) c.1654T>C (p.Trp552Arg) c.1600T>C (p.Trp534Arg) c.1504T>C (p.Trp502Arg) c.1474T>C (p.Trp492Arg) c.1399T>C (p.Trp467Arg) c.1297T>C (p.Trp433Arg) c.928T>C (p.Trp310Arg) | |
| 5 | g.112834984T>G | CA16025202 | APC | c.1442T>G (p.Met481Arg) c.1831T>G (p.Trp611Gly) c.*1783T>G (n.*1783T>G) c.1723T>G (p.Trp575Gly) c.1777T>G (p.Trp593Gly) c.130T>G c.466T>G (p.Trp156Gly) c.*1099T>G (n.*1099T>G) c.230+6012T>G c.1807T>G (p.Trp603Gly) c.1702T>G (p.Trp568Gly) c.1693T>G (p.Trp565Gly) c.1654T>G (p.Trp552Gly) c.1600T>G (p.Trp534Gly) c.1504T>G (p.Trp502Gly) c.1474T>G (p.Trp492Gly) c.1399T>G (p.Trp467Gly) c.1297T>G (p.Trp433Gly) c.928T>G (p.Trp310Gly) |