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.112835025_112835026dup | CA645562813 | APC | c.1483_1484dup (n.1483_1484dup) c.1872_1873dup (p.Cys625TyrfsTer4) c.*1824_*1825dup (n.*1824_*1825dup) c.1764_1765dup (p.Cys589TyrfsTer4) c.1818_1819dup (p.Cys607TyrfsTer4) c.171_172dup c.507_508dup (p.Cys170TyrfsTer4) c.*1140_*1141dup (n.*1140_*1141dup) c.230+6053_230+6054dup c.1848_1849dup (p.Cys617TyrfsTer4) c.1743_1744dup (p.Cys582TyrfsTer4) c.1734_1735dup (p.Cys579TyrfsTer4) c.1695_1696dup (p.Cys566TyrfsTer4) c.1641_1642dup (p.Cys548TyrfsTer4) c.1545_1546dup (p.Cys516TyrfsTer4) c.1515_1516dup (p.Cys506TyrfsTer4) c.1440_1441dup (p.Cys481TyrfsTer4) c.1338_1339dup (p.Cys447TyrfsTer4) c.969_970dup (p.Cys324TyrfsTer4) | COSMIC |
| 5 | g.112835025A>C | CA445758854 | APC | c.1483A>C (n.1483A>C) c.1872A>C (p.Ile624=) c.*1824A>C (n.*1824A>C) c.1764A>C (p.Ile588=) c.1818A>C (p.Ile606=) c.171A>C c.507A>C (p.Ile169=) c.*1140A>C (n.*1140A>C) c.230+6053A>C c.1848A>C (p.Ile616=) c.1743A>C (p.Ile581=) c.1734A>C (p.Ile578=) c.1695A>C (p.Ile565=) c.1641A>C (p.Ile547=) c.1545A>C (p.Ile515=) c.1515A>C (p.Ile505=) c.1440A>C (p.Ile480=) c.1338A>C (p.Ile446=) c.969A>C (p.Ile323=) | |
| 5 | g.112835025A>G | CA16025300 | APC | c.1483A>G (n.1483A>G) c.1872A>G (p.Ile624Met) c.*1824A>G (n.*1824A>G) c.1764A>G (p.Ile588Met) c.1818A>G (p.Ile606Met) c.171A>G c.507A>G (p.Ile169Met) c.*1140A>G (n.*1140A>G) c.230+6053A>G c.1848A>G (p.Ile616Met) c.1743A>G (p.Ile581Met) c.1734A>G (p.Ile578Met) c.1695A>G (p.Ile565Met) c.1641A>G (p.Ile547Met) c.1545A>G (p.Ile515Met) c.1515A>G (p.Ile505Met) c.1440A>G (p.Ile480Met) c.1338A>G (p.Ile446Met) c.969A>G (p.Ile323Met) | ClinVar dbSNP |
| 5 | g.112835025A>T | CA445758855 | APC | c.1483A>T (n.1483A>T) c.1872A>T (p.Ile624=) c.*1824A>T (n.*1824A>T) c.1764A>T (p.Ile588=) c.1818A>T (p.Ile606=) c.171A>T c.507A>T (p.Ile169=) c.*1140A>T (n.*1140A>T) c.230+6053A>T c.1848A>T (p.Ile616=) c.1743A>T (p.Ile581=) c.1734A>T (p.Ile578=) c.1695A>T (p.Ile565=) c.1641A>T (p.Ile547=) c.1545A>T (p.Ile515=) c.1515A>T (p.Ile505=) c.1440A>T (p.Ile480=) c.1338A>T (p.Ile446=) c.969A>T (p.Ile323=) | dbSNP |
| 5 | g.112835025dup | CA2695205043 | APC | c.1483dup (n.1483dup) c.1872dup (p.Cys625MetfsTer27) c.*1824dup (n.*1824dup) c.1764dup (p.Cys589MetfsTer27) c.1818dup (p.Cys607MetfsTer27) c.171dup c.507dup (p.Cys170MetfsTer27) c.*1140dup (n.*1140dup) c.230+6053dup c.1848dup (p.Cys617MetfsTer27) c.1743dup (p.Cys582MetfsTer27) c.1734dup (p.Cys579MetfsTer27) c.1695dup (p.Cys566MetfsTer27) c.1641dup (p.Cys548MetfsTer27) c.1545dup (p.Cys516MetfsTer27) c.1515dup (p.Cys506MetfsTer27) c.1440dup (p.Cys481MetfsTer27) c.1338dup (p.Cys447MetfsTer27) c.969dup (p.Cys324MetfsTer27) | |
| 5 | g.112835026T>A | CA16025301 | APC | c.1484T>A (n.1484T>A) c.1873T>A (p.Cys625Ser) c.*1825T>A (n.*1825T>A) c.1765T>A (p.Cys589Ser) c.1819T>A (p.Cys607Ser) c.172T>A c.508T>A (p.Cys170Ser) c.*1141T>A (n.*1141T>A) c.230+6054T>A c.1849T>A (p.Cys617Ser) c.1744T>A (p.Cys582Ser) c.1735T>A (p.Cys579Ser) c.1696T>A (p.Cys566Ser) c.1642T>A (p.Cys548Ser) c.1546T>A (p.Cys516Ser) c.1516T>A (p.Cys506Ser) c.1441T>A (p.Cys481Ser) c.1339T>A (p.Cys447Ser) c.970T>A (p.Cys324Ser) | |
| 5 | g.112835026T>C | CA16025302 | APC | c.1484T>C (n.1484T>C) c.1873T>C (p.Cys625Arg) c.*1825T>C (n.*1825T>C) c.1765T>C (p.Cys589Arg) c.1819T>C (p.Cys607Arg) c.172T>C c.508T>C (p.Cys170Arg) c.*1141T>C (n.*1141T>C) c.230+6054T>C c.1849T>C (p.Cys617Arg) c.1744T>C (p.Cys582Arg) c.1735T>C (p.Cys579Arg) c.1696T>C (p.Cys566Arg) c.1642T>C (p.Cys548Arg) c.1546T>C (p.Cys516Arg) c.1516T>C (p.Cys506Arg) c.1441T>C (p.Cys481Arg) c.1339T>C (p.Cys447Arg) c.970T>C (p.Cys324Arg) | ClinVar dbSNP |
| 5 | g.112835026T>G | CA16025303 | APC | c.1484T>G (n.1484T>G) c.1873T>G (p.Cys625Gly) c.*1825T>G (n.*1825T>G) c.1765T>G (p.Cys589Gly) c.1819T>G (p.Cys607Gly) c.172T>G c.508T>G (p.Cys170Gly) c.*1141T>G (n.*1141T>G) c.230+6054T>G c.1849T>G (p.Cys617Gly) c.1744T>G (p.Cys582Gly) c.1735T>G (p.Cys579Gly) c.1696T>G (p.Cys566Gly) c.1642T>G (p.Cys548Gly) c.1546T>G (p.Cys516Gly) c.1516T>G (p.Cys506Gly) c.1441T>G (p.Cys481Gly) c.1339T>G (p.Cys447Gly) c.970T>G (p.Cys324Gly) | |
| 5 | g.112835026T= | CA1573470710 | APC | c.1484T= (n.1484T=) c.1873T= (p.Cys625=) c.*1825T= (n.*1825T=) c.1765T= (p.Cys589=) c.1819T= (p.Cys607=) c.172T= c.508T= (p.Cys170=) c.*1141T= (n.*1141T=) c.230+6054T= c.1849T= (p.Cys617=) c.1744T= (p.Cys582=) c.1735T= (p.Cys579=) c.1696T= (p.Cys566=) c.1642T= (p.Cys548=) c.1546T= (p.Cys516=) c.1516T= (p.Cys506=) c.1441T= (p.Cys481=) c.1339T= (p.Cys447=) c.970T= (p.Cys324=) | |
| 5 | g.112835027G>A | CA16025304 | APC | c.1485G>A (n.1485G>A) c.1874G>A (p.Cys625Tyr) c.*1826G>A (n.*1826G>A) c.1766G>A (p.Cys589Tyr) c.1820G>A (p.Cys607Tyr) c.173G>A c.509G>A (p.Cys170Tyr) c.*1142G>A (n.*1142G>A) c.230+6055G>A c.1850G>A (p.Cys617Tyr) c.1745G>A (p.Cys582Tyr) c.1736G>A (p.Cys579Tyr) c.1697G>A (p.Cys566Tyr) c.1643G>A (p.Cys548Tyr) c.1547G>A (p.Cys516Tyr) c.1517G>A (p.Cys506Tyr) c.1442G>A (p.Cys481Tyr) c.1340G>A (p.Cys447Tyr) c.971G>A (p.Cys324Tyr) | |
| 5 | g.112835027G>C | CA16025305 | APC | c.1485G>C (n.1485G>C) c.1874G>C (p.Cys625Ser) c.*1826G>C (n.*1826G>C) c.1766G>C (p.Cys589Ser) c.1820G>C (p.Cys607Ser) c.173G>C c.509G>C (p.Cys170Ser) c.*1142G>C (n.*1142G>C) c.230+6055G>C c.1850G>C (p.Cys617Ser) c.1745G>C (p.Cys582Ser) c.1736G>C (p.Cys579Ser) c.1697G>C (p.Cys566Ser) c.1643G>C (p.Cys548Ser) c.1547G>C (p.Cys516Ser) c.1517G>C (p.Cys506Ser) c.1442G>C (p.Cys481Ser) c.1340G>C (p.Cys447Ser) c.971G>C (p.Cys324Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835027G= | CA1573470720 | APC | c.1485G= (n.1485G=) c.1874G= (p.Cys625=) c.*1826G= (n.*1826G=) c.1766G= (p.Cys589=) c.1820G= (p.Cys607=) c.173G= c.509G= (p.Cys170=) c.*1142G= (n.*1142G=) c.230+6055G= c.1850G= (p.Cys617=) c.1745G= (p.Cys582=) c.1736G= (p.Cys579=) c.1697G= (p.Cys566=) c.1643G= (p.Cys548=) c.1547G= (p.Cys516=) c.1517G= (p.Cys506=) c.1442G= (p.Cys481=) c.1340G= (p.Cys447=) c.971G= (p.Cys324=) | |
| 5 | g.112835027G>T | CA16025306 | APC | c.1485G>T (n.1485G>T) c.1874G>T (p.Cys625Phe) c.*1826G>T (n.*1826G>T) c.1766G>T (p.Cys589Phe) c.1820G>T (p.Cys607Phe) c.173G>T c.509G>T (p.Cys170Phe) c.*1142G>T (n.*1142G>T) c.230+6055G>T c.1850G>T (p.Cys617Phe) c.1745G>T (p.Cys582Phe) c.1736G>T (p.Cys579Phe) c.1697G>T (p.Cys566Phe) c.1643G>T (p.Cys548Phe) c.1547G>T (p.Cys516Phe) c.1517G>T (p.Cys506Phe) c.1442G>T (p.Cys481Phe) c.1340G>T (p.Cys447Phe) c.971G>T (p.Cys324Phe) | |
| 5 | g.112835027_112835028delinsGT | CA1573470723 | APC | c.1485_1486delinsGT (n.1485_1486delinsGT) c.1874_1875delinsGT (p.Cys625=) c.*1826_*1827delinsGT (n.*1826_*1827delinsGT) c.1766_1767delinsGT (p.Cys589=) c.1820_1821delinsGT (p.Cys607=) c.173_174delinsGT c.509_510delinsGT (p.Cys170=) c.*1142_*1143delinsGT (n.*1142_*1143delinsGT) c.230+6055_230+6056delinsGT c.1850_1851delinsGT (p.Cys617=) c.1745_1746delinsGT (p.Cys582=) c.1736_1737delinsGT (p.Cys579=) c.1697_1698delinsGT (p.Cys566=) c.1643_1644delinsGT (p.Cys548=) c.1547_1548delinsGT (p.Cys516=) c.1517_1518delinsGT (p.Cys506=) c.1442_1443delinsGT (p.Cys481=) c.1340_1341delinsGT (p.Cys447=) c.971_972delinsGT (p.Cys324=) | |
| 5 | g.112835028del | CA445758857 | APC | c.1486del (n.1486del) c.1875del (p.Cys625TrpfsTer3) c.*1827del (n.*1827del) c.1767del (p.Cys589TrpfsTer3) c.1821del (p.Cys607TrpfsTer3) c.174del c.510del (p.Cys170TrpfsTer3) c.*1143del (n.*1143del) c.230+6056del c.1851del (p.Cys617TrpfsTer3) c.1746del (p.Cys582TrpfsTer3) c.1737del (p.Cys579TrpfsTer3) c.1698del (p.Cys566TrpfsTer3) c.1644del (p.Cys548TrpfsTer3) c.1548del (p.Cys516TrpfsTer3) c.1518del (p.Cys506TrpfsTer3) c.1443del (p.Cys481TrpfsTer3) c.1341del (p.Cys447TrpfsTer3) c.972del (p.Cys324TrpfsTer3) | COSMIC |
| 5 | g.112835028T>A | CA16025307 | APC | c.1486T>A (n.1486T>A) c.1875T>A (p.Cys625Ter) c.*1827T>A (n.*1827T>A) c.1767T>A (p.Cys589Ter) c.1821T>A (p.Cys607Ter) c.174T>A c.510T>A (p.Cys170Ter) c.*1143T>A (n.*1143T>A) c.230+6056T>A c.1851T>A (p.Cys617Ter) c.1746T>A (p.Cys582Ter) c.1737T>A (p.Cys579Ter) c.1698T>A (p.Cys566Ter) c.1644T>A (p.Cys548Ter) c.1548T>A (p.Cys516Ter) c.1518T>A (p.Cys506Ter) c.1443T>A (p.Cys481Ter) c.1341T>A (p.Cys447Ter) c.972T>A (p.Cys324Ter) | dbSNP gnomAD v4 |
| 5 | g.112835028T>C | CA445758856 | APC | c.1486T>C (n.1486T>C) c.1875T>C (p.Cys625=) c.*1827T>C (n.*1827T>C) c.1767T>C (p.Cys589=) c.1821T>C (p.Cys607=) c.174T>C c.510T>C (p.Cys170=) c.*1143T>C (n.*1143T>C) c.230+6056T>C c.1851T>C (p.Cys617=) c.1746T>C (p.Cys582=) c.1737T>C (p.Cys579=) c.1698T>C (p.Cys566=) c.1644T>C (p.Cys548=) c.1548T>C (p.Cys516=) c.1518T>C (p.Cys506=) c.1443T>C (p.Cys481=) c.1341T>C (p.Cys447=) c.972T>C (p.Cys324=) | |
| 5 | g.112835028T>G | CA16025308 | APC | c.1486T>G (n.1486T>G) c.1875T>G (p.Cys625Trp) c.*1827T>G (n.*1827T>G) c.1767T>G (p.Cys589Trp) c.1821T>G (p.Cys607Trp) c.174T>G c.510T>G (p.Cys170Trp) c.*1143T>G (n.*1143T>G) c.230+6056T>G c.1851T>G (p.Cys617Trp) c.1746T>G (p.Cys582Trp) c.1737T>G (p.Cys579Trp) c.1698T>G (p.Cys566Trp) c.1644T>G (p.Cys548Trp) c.1548T>G (p.Cys516Trp) c.1518T>G (p.Cys506Trp) c.1443T>G (p.Cys481Trp) c.1341T>G (p.Cys447Trp) c.972T>G (p.Cys324Trp) | ClinVar dbSNP |
| 5 | g.112835028T= | CA1573470734 | APC | c.1486T= (n.1486T=) c.1875T= (p.Cys625=) c.*1827T= (n.*1827T=) c.1767T= (p.Cys589=) c.1821T= (p.Cys607=) c.174T= c.510T= (p.Cys170=) c.*1143T= (n.*1143T=) c.230+6056T= c.1851T= (p.Cys617=) c.1746T= (p.Cys582=) c.1737T= (p.Cys579=) c.1698T= (p.Cys566=) c.1644T= (p.Cys548=) c.1548T= (p.Cys516=) c.1518T= (p.Cys506=) c.1443T= (p.Cys481=) c.1341T= (p.Cys447=) c.972T= (p.Cys324=) | |
| 5 | g.112835028delinsGTGCTTTAAAAAA | CA915942607 | APC | c.1486delinsGTGCTTTAAAAAA (n.1486delinsGTGCTTTAAAAAA) c.1875delinsGTGCTTTAAAAAA (p.Cys625delinsTrpCysPheLysLys) c.*1827delinsGTGCTTTAAAAAA (n.*1827delinsGTGCTTTAAAAAA) c.1767delinsGTGCTTTAAAAAA (p.Cys589delinsTrpCysPheLysLys) c.1821delinsGTGCTTTAAAAAA (p.Cys607delinsTrpCysPheLysLys) c.174delinsGTGCTTTAAAAAA c.510delinsGTGCTTTAAAAAA (p.Cys170delinsTrpCysPheLysLys) c.*1143delinsGTGCTTTAAAAAA (n.*1143delinsGTGCTTTAAAAAA) c.230+6056delinsGTGCTTTAAAAAA c.1851delinsGTGCTTTAAAAAA (p.Cys617delinsTrpCysPheLysLys) c.1746delinsGTGCTTTAAAAAA (p.Cys582delinsTrpCysPheLysLys) c.1737delinsGTGCTTTAAAAAA (p.Cys579delinsTrpCysPheLysLys) c.1698delinsGTGCTTTAAAAAA (p.Cys566delinsTrpCysPheLysLys) c.1644delinsGTGCTTTAAAAAA (p.Cys548delinsTrpCysPheLysLys) c.1548delinsGTGCTTTAAAAAA (p.Cys516delinsTrpCysPheLysLys) c.1518delinsGTGCTTTAAAAAA (p.Cys506delinsTrpCysPheLysLys) c.1443delinsGTGCTTTAAAAAA (p.Cys481delinsTrpCysPheLysLys) c.1341delinsGTGCTTTAAAAAA (p.Cys447delinsTrpCysPheLysLys) c.972delinsGTGCTTTAAAAAA (p.Cys324delinsTrpCysPheLysLys) | ClinVar dbSNP |
| 5 | g.112835029G>A | CA16025309 | APC | c.1487G>A (n.1487G>A) c.1876G>A (p.Ala626Thr) c.*1828G>A (n.*1828G>A) c.1768G>A (p.Ala590Thr) c.1822G>A (p.Ala608Thr) c.175G>A c.511G>A (p.Ala171Thr) c.*1144G>A (n.*1144G>A) c.230+6057G>A c.1852G>A (p.Ala618Thr) c.1747G>A (p.Ala583Thr) c.1738G>A (p.Ala580Thr) c.1699G>A (p.Ala567Thr) c.1645G>A (p.Ala549Thr) c.1549G>A (p.Ala517Thr) c.1519G>A (p.Ala507Thr) c.1444G>A (p.Ala482Thr) c.1342G>A (p.Ala448Thr) c.973G>A (p.Ala325Thr) | dbSNP |
| 5 | g.112835029G>C | CA16025310 | APC | c.1487G>C (n.1487G>C) c.1876G>C (p.Ala626Pro) c.*1828G>C (n.*1828G>C) c.1768G>C (p.Ala590Pro) c.1822G>C (p.Ala608Pro) c.175G>C c.511G>C (p.Ala171Pro) c.*1144G>C (n.*1144G>C) c.230+6057G>C c.1852G>C (p.Ala618Pro) c.1747G>C (p.Ala583Pro) c.1738G>C (p.Ala580Pro) c.1699G>C (p.Ala567Pro) c.1645G>C (p.Ala549Pro) c.1549G>C (p.Ala517Pro) c.1519G>C (p.Ala507Pro) c.1444G>C (p.Ala482Pro) c.1342G>C (p.Ala448Pro) c.973G>C (p.Ala325Pro) | dbSNP |
| 5 | g.112835029G>T | CA16025311 | APC | c.1487G>T (n.1487G>T) c.1876G>T (p.Ala626Ser) c.*1828G>T (n.*1828G>T) c.1768G>T (p.Ala590Ser) c.1822G>T (p.Ala608Ser) c.175G>T c.511G>T (p.Ala171Ser) c.*1144G>T (n.*1144G>T) c.230+6057G>T c.1852G>T (p.Ala618Ser) c.1747G>T (p.Ala583Ser) c.1738G>T (p.Ala580Ser) c.1699G>T (p.Ala567Ser) c.1645G>T (p.Ala549Ser) c.1549G>T (p.Ala517Ser) c.1519G>T (p.Ala507Ser) c.1444G>T (p.Ala482Ser) c.1342G>T (p.Ala448Ser) c.973G>T (p.Ala325Ser) | dbSNP |
| 5 | g.112835029_112835030insA | CA2695205044 | APC | c.1487_1488insA (n.1487_1488insA) c.1876_1877insA (p.Ala626AspfsTer26) c.*1828_*1829insA (n.*1828_*1829insA) c.1768_1769insA (p.Ala590AspfsTer26) c.1822_1823insA (p.Ala608AspfsTer26) c.175_176insA c.511_512insA (p.Ala171AspfsTer26) c.*1144_*1145insA (n.*1144_*1145insA) c.230+6057_230+6058insA c.1852_1853insA (p.Ala618AspfsTer26) c.1747_1748insA (p.Ala583AspfsTer26) c.1738_1739insA (p.Ala580AspfsTer26) c.1699_1700insA (p.Ala567AspfsTer26) c.1645_1646insA (p.Ala549AspfsTer26) c.1549_1550insA (p.Ala517AspfsTer26) c.1519_1520insA (p.Ala507AspfsTer26) c.1444_1445insA (p.Ala482AspfsTer26) c.1342_1343insA (p.Ala448AspfsTer26) c.973_974insA (p.Ala325AspfsTer26) | |
| 5 | g.112835030C>A | CA16025312 | APC | c.1488C>A (n.1488C>A) c.1877C>A (p.Ala626Asp) c.*1829C>A (n.*1829C>A) c.1769C>A (p.Ala590Asp) c.1823C>A (p.Ala608Asp) c.176C>A c.512C>A (p.Ala171Asp) c.*1145C>A (n.*1145C>A) c.230+6058C>A c.1853C>A (p.Ala618Asp) c.1748C>A (p.Ala583Asp) c.1739C>A (p.Ala580Asp) c.1700C>A (p.Ala567Asp) c.1646C>A (p.Ala549Asp) c.1550C>A (p.Ala517Asp) c.1520C>A (p.Ala507Asp) c.1445C>A (p.Ala482Asp) c.1343C>A (p.Ala448Asp) c.974C>A (p.Ala325Asp) | dbSNP |
| 5 | g.112835030C>G | CA16025313 | APC | c.1488C>G (n.1488C>G) c.1877C>G (p.Ala626Gly) c.*1829C>G (n.*1829C>G) c.1769C>G (p.Ala590Gly) c.1823C>G (p.Ala608Gly) c.176C>G c.512C>G (p.Ala171Gly) c.*1145C>G (n.*1145C>G) c.230+6058C>G c.1853C>G (p.Ala618Gly) c.1748C>G (p.Ala583Gly) c.1739C>G (p.Ala580Gly) c.1700C>G (p.Ala567Gly) c.1646C>G (p.Ala549Gly) c.1550C>G (p.Ala517Gly) c.1520C>G (p.Ala507Gly) c.1445C>G (p.Ala482Gly) c.1343C>G (p.Ala448Gly) c.974C>G (p.Ala325Gly) | dbSNP |
| 5 | g.112835030C>T | CA16025314 | APC | c.1488C>T (n.1488C>T) c.1877C>T (p.Ala626Val) c.*1829C>T (n.*1829C>T) c.1769C>T (p.Ala590Val) c.1823C>T (p.Ala608Val) c.176C>T c.512C>T (p.Ala171Val) c.*1145C>T (n.*1145C>T) c.230+6058C>T c.1853C>T (p.Ala618Val) c.1748C>T (p.Ala583Val) c.1739C>T (p.Ala580Val) c.1700C>T (p.Ala567Val) c.1646C>T (p.Ala549Val) c.1550C>T (p.Ala517Val) c.1520C>T (p.Ala507Val) c.1445C>T (p.Ala482Val) c.1343C>T (p.Ala448Val) c.974C>T (p.Ala325Val) | ClinVar dbSNP |
| 5 | g.112835030_112835031insA | CA658760569 | APC | c.1488_1489insA (n.1488_1489insA) c.1877_1878insA (p.Val627CysfsTer25) c.*1829_*1830insA (n.*1829_*1830insA) c.1769_1770insA (p.Val591CysfsTer25) c.1823_1824insA (p.Val609CysfsTer25) c.176_177insA c.512_513insA (p.Val172CysfsTer25) c.*1145_*1146insA (n.*1145_*1146insA) c.230+6058_230+6059insA c.1853_1854insA (p.Val619CysfsTer25) c.1748_1749insA (p.Val584CysfsTer25) c.1739_1740insA (p.Val581CysfsTer25) c.1700_1701insA (p.Val568CysfsTer25) c.1646_1647insA (p.Val550CysfsTer25) c.1550_1551insA (p.Val518CysfsTer25) c.1520_1521insA (p.Val508CysfsTer25) c.1445_1446insA (p.Val483CysfsTer25) c.1343_1344insA (p.Val449CysfsTer25) c.974_975insA (p.Val326CysfsTer25) | ClinVar |
| 5 | g.112835031T>A | CA445758859 | APC | c.1489T>A (n.1489T>A) c.1878T>A (p.Ala626=) c.*1830T>A (n.*1830T>A) c.1770T>A (p.Ala590=) c.1824T>A (p.Ala608=) c.177T>A c.513T>A (p.Ala171=) c.*1146T>A (n.*1146T>A) c.230+6059T>A c.1854T>A (p.Ala618=) c.1749T>A (p.Ala583=) c.1740T>A (p.Ala580=) c.1701T>A (p.Ala567=) c.1647T>A (p.Ala549=) c.1551T>A (p.Ala517=) c.1521T>A (p.Ala507=) c.1446T>A (p.Ala482=) c.1344T>A (p.Ala448=) c.975T>A (p.Ala325=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112835031T>C | CA445758860 | APC | c.1489T>C (n.1489T>C) c.1878T>C (p.Ala626=) c.*1830T>C (n.*1830T>C) c.1770T>C (p.Ala590=) c.1824T>C (p.Ala608=) c.177T>C c.513T>C (p.Ala171=) c.*1146T>C (n.*1146T>C) c.230+6059T>C c.1854T>C (p.Ala618=) c.1749T>C (p.Ala583=) c.1740T>C (p.Ala580=) c.1701T>C (p.Ala567=) c.1647T>C (p.Ala549=) c.1551T>C (p.Ala517=) c.1521T>C (p.Ala507=) c.1446T>C (p.Ala482=) c.1344T>C (p.Ala448=) c.975T>C (p.Ala325=) | ClinVar |
| 5 | g.112835031T>G | CA445758858 | APC | c.1489T>G (n.1489T>G) c.1878T>G (p.Ala626=) c.*1830T>G (n.*1830T>G) c.1770T>G (p.Ala590=) c.1824T>G (p.Ala608=) c.177T>G c.513T>G (p.Ala171=) c.*1146T>G (n.*1146T>G) c.230+6059T>G c.1854T>G (p.Ala618=) c.1749T>G (p.Ala583=) c.1740T>G (p.Ala580=) c.1701T>G (p.Ala567=) c.1647T>G (p.Ala549=) c.1551T>G (p.Ala517=) c.1521T>G (p.Ala507=) c.1446T>G (p.Ala482=) c.1344T>G (p.Ala448=) c.975T>G (p.Ala325=) | |
| 5 | g.112835031T= | CA1573470743 | APC | c.1489T= (n.1489T=) c.1878T= (p.Ala626=) c.*1830T= (n.*1830T=) c.1770T= (p.Ala590=) c.1824T= (p.Ala608=) c.177T= c.513T= (p.Ala171=) c.*1146T= (n.*1146T=) c.230+6059T= c.1854T= (p.Ala618=) c.1749T= (p.Ala583=) c.1740T= (p.Ala580=) c.1701T= (p.Ala567=) c.1647T= (p.Ala549=) c.1551T= (p.Ala517=) c.1521T= (p.Ala507=) c.1446T= (p.Ala482=) c.1344T= (p.Ala448=) c.975T= (p.Ala325=) | |
| 5 | g.112835032del | CA658760571 | APC | c.1490del (n.1490del) c.1879del (p.Val627Ter) c.*1831del (n.*1831del) c.1771del (p.Val591Ter) c.1825del (p.Val609Ter) c.178del c.514del (p.Val172Ter) c.*1147del (n.*1147del) c.230+6060del c.1855del (p.Val619Ter) c.1750del (p.Val584Ter) c.1741del (p.Val581Ter) c.1702del (p.Val568Ter) c.1648del (p.Val550Ter) c.1552del (p.Val518Ter) c.1522del (p.Val508Ter) c.1447del (p.Val483Ter) c.1345del (p.Val449Ter) c.976del (p.Val326Ter) | ClinVar dbSNP |
| 5 | g.112835032G>A | CA006055 | APC | c.1490G>A (n.1490G>A) c.1879G>A (p.Val627Ile) c.*1831G>A (n.*1831G>A) c.1771G>A (p.Val591Ile) c.1825G>A (p.Val609Ile) c.178G>A c.514G>A (p.Val172Ile) c.*1147G>A (n.*1147G>A) c.230+6060G>A c.1855G>A (p.Val619Ile) c.1750G>A (p.Val584Ile) c.1741G>A (p.Val581Ile) c.1702G>A (p.Val568Ile) c.1648G>A (p.Val550Ile) c.1552G>A (p.Val518Ile) c.1522G>A (p.Val508Ile) c.1447G>A (p.Val483Ile) c.1345G>A (p.Val449Ile) c.976G>A (p.Val326Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112835032G>C | CA16025315 | APC | c.1490G>C (n.1490G>C) c.1879G>C (p.Val627Leu) c.*1831G>C (n.*1831G>C) c.1771G>C (p.Val591Leu) c.1825G>C (p.Val609Leu) c.178G>C c.514G>C (p.Val172Leu) c.*1147G>C (n.*1147G>C) c.230+6060G>C c.1855G>C (p.Val619Leu) c.1750G>C (p.Val584Leu) c.1741G>C (p.Val581Leu) c.1702G>C (p.Val568Leu) c.1648G>C (p.Val550Leu) c.1552G>C (p.Val518Leu) c.1522G>C (p.Val508Leu) c.1447G>C (p.Val483Leu) c.1345G>C (p.Val449Leu) c.976G>C (p.Val326Leu) | dbSNP |
| 5 | g.112835032G= | CA1573470761 | APC | c.1490G= (n.1490G=) c.1879G= (p.Val627=) c.*1831G= (n.*1831G=) c.1771G= (p.Val591=) c.1825G= (p.Val609=) c.178G= c.514G= (p.Val172=) c.*1147G= (n.*1147G=) c.230+6060G= c.1855G= (p.Val619=) c.1750G= (p.Val584=) c.1741G= (p.Val581=) c.1702G= (p.Val568=) c.1648G= (p.Val550=) c.1552G= (p.Val518=) c.1522G= (p.Val508=) c.1447G= (p.Val483=) c.1345G= (p.Val449=) c.976G= (p.Val326=) | |
| 5 | g.112835032G>T | CA16025316 | APC | c.1490G>T (n.1490G>T) c.1879G>T (p.Val627Leu) c.*1831G>T (n.*1831G>T) c.1771G>T (p.Val591Leu) c.1825G>T (p.Val609Leu) c.178G>T c.514G>T (p.Val172Leu) c.*1147G>T (n.*1147G>T) c.230+6060G>T c.1855G>T (p.Val619Leu) c.1750G>T (p.Val584Leu) c.1741G>T (p.Val581Leu) c.1702G>T (p.Val568Leu) c.1648G>T (p.Val550Leu) c.1552G>T (p.Val518Leu) c.1522G>T (p.Val508Leu) c.1447G>T (p.Val483Leu) c.1345G>T (p.Val449Leu) c.976G>T (p.Val326Leu) | |
| 5 | g.112835033del | CA2499217461 | APC | c.1491del (n.1491del) c.1880del (p.Val627GlufsTer21) c.*1832del (n.*1832del) c.1772del (p.Val591GlufsTer21) c.1826del (p.Val609GlufsTer21) c.179del c.515del (p.Val172GlufsTer21) c.*1148del (n.*1148del) c.230+6061del c.1856del (p.Val619GlufsTer21) c.1751del (p.Val584GlufsTer21) c.1742del (p.Val581GlufsTer21) c.1703del (p.Val568GlufsTer21) c.1649del (p.Val550GlufsTer21) c.1553del (p.Val518GlufsTer21) c.1523del (p.Val508GlufsTer21) c.1448del (p.Val483GlufsTer21) c.1346del (p.Val449GlufsTer21) c.977del (p.Val326GlufsTer21) | ClinVar dbSNP |
| 5 | g.112835033T>A | CA16025317 | APC | c.1491T>A (n.1491T>A) c.1880T>A (p.Val627Glu) c.*1832T>A (n.*1832T>A) c.1772T>A (p.Val591Glu) c.1826T>A (p.Val609Glu) c.179T>A c.515T>A (p.Val172Glu) c.*1148T>A (n.*1148T>A) c.230+6061T>A c.1856T>A (p.Val619Glu) c.1751T>A (p.Val584Glu) c.1742T>A (p.Val581Glu) c.1703T>A (p.Val568Glu) c.1649T>A (p.Val550Glu) c.1553T>A (p.Val518Glu) c.1523T>A (p.Val508Glu) c.1448T>A (p.Val483Glu) c.1346T>A (p.Val449Glu) c.977T>A (p.Val326Glu) | dbSNP |
| 5 | g.112835033T>C | CA16025318 | APC | c.1491T>C (n.1491T>C) c.1880T>C (p.Val627Ala) c.*1832T>C (n.*1832T>C) c.1772T>C (p.Val591Ala) c.1826T>C (p.Val609Ala) c.179T>C c.515T>C (p.Val172Ala) c.*1148T>C (n.*1148T>C) c.230+6061T>C c.1856T>C (p.Val619Ala) c.1751T>C (p.Val584Ala) c.1742T>C (p.Val581Ala) c.1703T>C (p.Val568Ala) c.1649T>C (p.Val550Ala) c.1553T>C (p.Val518Ala) c.1523T>C (p.Val508Ala) c.1448T>C (p.Val483Ala) c.1346T>C (p.Val449Ala) c.977T>C (p.Val326Ala) | ClinVar |
| 5 | g.112835033T>G | CA16025319 | APC | c.1491T>G (n.1491T>G) c.1880T>G (p.Val627Gly) c.*1832T>G (n.*1832T>G) c.1772T>G (p.Val591Gly) c.1826T>G (p.Val609Gly) c.179T>G c.515T>G (p.Val172Gly) c.*1148T>G (n.*1148T>G) c.230+6061T>G c.1856T>G (p.Val619Gly) c.1751T>G (p.Val584Gly) c.1742T>G (p.Val581Gly) c.1703T>G (p.Val568Gly) c.1649T>G (p.Val550Gly) c.1553T>G (p.Val518Gly) c.1523T>G (p.Val508Gly) c.1448T>G (p.Val483Gly) c.1346T>G (p.Val449Gly) c.977T>G (p.Val326Gly) | dbSNP |
| 5 | g.112835034A>C | CA445758863 | APC | c.1492A>C (n.1492A>C) c.1881A>C (p.Val627=) c.*1833A>C (n.*1833A>C) c.1773A>C (p.Val591=) c.1827A>C (p.Val609=) c.180A>C c.516A>C (p.Val172=) c.*1149A>C (n.*1149A>C) c.230+6062A>C c.1857A>C (p.Val619=) c.1752A>C (p.Val584=) c.1743A>C (p.Val581=) c.1704A>C (p.Val568=) c.1650A>C (p.Val550=) c.1554A>C (p.Val518=) c.1524A>C (p.Val508=) c.1449A>C (p.Val483=) c.1347A>C (p.Val449=) c.978A>C (p.Val326=) | |
| 5 | g.112835034A>G | CA445758861 | APC | c.1492A>G (n.1492A>G) c.1881A>G (p.Val627=) c.*1833A>G (n.*1833A>G) c.1773A>G (p.Val591=) c.1827A>G (p.Val609=) c.180A>G c.516A>G (p.Val172=) c.*1149A>G (n.*1149A>G) c.230+6062A>G c.1857A>G (p.Val619=) c.1752A>G (p.Val584=) c.1743A>G (p.Val581=) c.1704A>G (p.Val568=) c.1650A>G (p.Val550=) c.1554A>G (p.Val518=) c.1524A>G (p.Val508=) c.1449A>G (p.Val483=) c.1347A>G (p.Val449=) c.978A>G (p.Val326=) | ClinVar dbSNP |
| 5 | g.112835034A>T | CA445758862 | APC | c.1492A>T (n.1492A>T) c.1881A>T (p.Val627=) c.*1833A>T (n.*1833A>T) c.1773A>T (p.Val591=) c.1827A>T (p.Val609=) c.180A>T c.516A>T (p.Val172=) c.*1149A>T (n.*1149A>T) c.230+6062A>T c.1857A>T (p.Val619=) c.1752A>T (p.Val584=) c.1743A>T (p.Val581=) c.1704A>T (p.Val568=) c.1650A>T (p.Val550=) c.1554A>T (p.Val518=) c.1524A>T (p.Val508=) c.1449A>T (p.Val483=) c.1347A>T (p.Val449=) c.978A>T (p.Val326=) | dbSNP |
| 5 | g.112835035G>A | CA16025320 | APC | c.1493G>A (n.1493G>A) c.1882G>A (p.Asp628Asn) c.*1834G>A (n.*1834G>A) c.1774G>A (p.Asp592Asn) c.1828G>A (p.Asp610Asn) c.181G>A c.517G>A (p.Asp173Asn) c.*1150G>A (n.*1150G>A) c.230+6063G>A c.1858G>A (p.Asp620Asn) c.1753G>A (p.Asp585Asn) c.1744G>A (p.Asp582Asn) c.1705G>A (p.Asp569Asn) c.1651G>A (p.Asp551Asn) c.1555G>A (p.Asp519Asn) c.1525G>A (p.Asp509Asn) c.1450G>A (p.Asp484Asn) c.1348G>A (p.Asp450Asn) c.979G>A (p.Asp327Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112835035G>C | CA16025321 | APC | c.1493G>C (n.1493G>C) c.1882G>C (p.Asp628His) c.*1834G>C (n.*1834G>C) c.1774G>C (p.Asp592His) c.1828G>C (p.Asp610His) c.181G>C c.517G>C (p.Asp173His) c.*1150G>C (n.*1150G>C) c.230+6063G>C c.1858G>C (p.Asp620His) c.1753G>C (p.Asp585His) c.1744G>C (p.Asp582His) c.1705G>C (p.Asp569His) c.1651G>C (p.Asp551His) c.1555G>C (p.Asp519His) c.1525G>C (p.Asp509His) c.1450G>C (p.Asp484His) c.1348G>C (p.Asp450His) c.979G>C (p.Asp327His) | dbSNP |
| 5 | g.112835035G= | CA1573470772 | APC | c.1493G= (n.1493G=) c.1882G= (p.Asp628=) c.*1834G= (n.*1834G=) c.1774G= (p.Asp592=) c.1828G= (p.Asp610=) c.181G= c.517G= (p.Asp173=) c.*1150G= (n.*1150G=) c.230+6063G= c.1858G= (p.Asp620=) c.1753G= (p.Asp585=) c.1744G= (p.Asp582=) c.1705G= (p.Asp569=) c.1651G= (p.Asp551=) c.1555G= (p.Asp519=) c.1525G= (p.Asp509=) c.1450G= (p.Asp484=) c.1348G= (p.Asp450=) c.979G= (p.Asp327=) | |
| 5 | g.112835035G>T | CA16025322 | APC | c.1493G>T (n.1493G>T) c.1882G>T (p.Asp628Tyr) c.*1834G>T (n.*1834G>T) c.1774G>T (p.Asp592Tyr) c.1828G>T (p.Asp610Tyr) c.181G>T c.517G>T (p.Asp173Tyr) c.*1150G>T (n.*1150G>T) c.230+6063G>T c.1858G>T (p.Asp620Tyr) c.1753G>T (p.Asp585Tyr) c.1744G>T (p.Asp582Tyr) c.1705G>T (p.Asp569Tyr) c.1651G>T (p.Asp551Tyr) c.1555G>T (p.Asp519Tyr) c.1525G>T (p.Asp509Tyr) c.1450G>T (p.Asp484Tyr) c.1348G>T (p.Asp450Tyr) c.979G>T (p.Asp327Tyr) | ClinVar dbSNP COSMIC |