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.112834996G>A | CA16025230 | APC | c.1454G>A (p.Ser485Asn) c.1843G>A (p.Ala615Thr) c.*1795G>A (n.*1795G>A) c.1735G>A (p.Ala579Thr) c.1789G>A (p.Ala597Thr) c.142G>A c.478G>A (p.Ala160Thr) c.*1111G>A (n.*1111G>A) c.230+6024G>A c.1819G>A (p.Ala607Thr) c.1714G>A (p.Ala572Thr) c.1705G>A (p.Ala569Thr) c.1666G>A (p.Ala556Thr) c.1612G>A (p.Ala538Thr) c.1516G>A (p.Ala506Thr) c.1486G>A (p.Ala496Thr) c.1411G>A (p.Ala471Thr) c.1309G>A (p.Ala437Thr) c.940G>A (p.Ala314Thr) | dbSNP |
| 5 | g.112834996G>C | CA16025231 | APC | c.1454G>C (p.Ser485Thr) c.1843G>C (p.Ala615Pro) c.*1795G>C (n.*1795G>C) c.1735G>C (p.Ala579Pro) c.1789G>C (p.Ala597Pro) c.142G>C c.478G>C (p.Ala160Pro) c.*1111G>C (n.*1111G>C) c.230+6024G>C c.1819G>C (p.Ala607Pro) c.1714G>C (p.Ala572Pro) c.1705G>C (p.Ala569Pro) c.1666G>C (p.Ala556Pro) c.1612G>C (p.Ala538Pro) c.1516G>C (p.Ala506Pro) c.1486G>C (p.Ala496Pro) c.1411G>C (p.Ala471Pro) c.1309G>C (p.Ala437Pro) c.940G>C (p.Ala314Pro) | dbSNP |
| 5 | g.112834996G= | CA1573470590 | APC | c.1454G= (p.Ser485=) c.1843G= (p.Ala615=) c.*1795G= (n.*1795G=) c.1735G= (p.Ala579=) c.1789G= (p.Ala597=) c.142G= c.478G= (p.Ala160=) c.*1111G= (n.*1111G=) c.230+6024G= c.1819G= (p.Ala607=) c.1714G= (p.Ala572=) c.1705G= (p.Ala569=) c.1666G= (p.Ala556=) c.1612G= (p.Ala538=) c.1516G= (p.Ala506=) c.1486G= (p.Ala496=) c.1411G= (p.Ala471=) c.1309G= (p.Ala437=) c.940G= (p.Ala314=) | |
| 5 | g.112834996G>T | CA16025232 | APC | c.1454G>T (p.Ser485Ile) c.1843G>T (p.Ala615Ser) c.*1795G>T (n.*1795G>T) c.1735G>T (p.Ala579Ser) c.1789G>T (p.Ala597Ser) c.142G>T c.478G>T (p.Ala160Ser) c.*1111G>T (n.*1111G>T) c.230+6024G>T c.1819G>T (p.Ala607Ser) c.1714G>T (p.Ala572Ser) c.1705G>T (p.Ala569Ser) c.1666G>T (p.Ala556Ser) c.1612G>T (p.Ala538Ser) c.1516G>T (p.Ala506Ser) c.1486G>T (p.Ala496Ser) c.1411G>T (p.Ala471Ser) c.1309G>T (p.Ala437Ser) c.940G>T (p.Ala314Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112834997C>A | CA16025233 | APC | c.1455C>A (p.Ser485Arg) c.1844C>A (p.Ala615Glu) c.*1796C>A (n.*1796C>A) c.1736C>A (p.Ala579Glu) c.1790C>A (p.Ala597Glu) c.143C>A c.479C>A (p.Ala160Glu) c.*1112C>A (n.*1112C>A) c.230+6025C>A c.1820C>A (p.Ala607Glu) c.1715C>A (p.Ala572Glu) c.1706C>A (p.Ala569Glu) c.1667C>A (p.Ala556Glu) c.1613C>A (p.Ala538Glu) c.1517C>A (p.Ala506Glu) c.1487C>A (p.Ala496Glu) c.1412C>A (p.Ala471Glu) c.1310C>A (p.Ala437Glu) c.941C>A (p.Ala314Glu) | |
| 5 | g.112834997C= | CA1573470594 | APC | c.1455C= (p.Ser485=) c.1844C= (p.Ala615=) c.*1796C= (n.*1796C=) c.1736C= (p.Ala579=) c.1790C= (p.Ala597=) c.143C= c.479C= (p.Ala160=) c.*1112C= (n.*1112C=) c.230+6025C= c.1820C= (p.Ala607=) c.1715C= (p.Ala572=) c.1706C= (p.Ala569=) c.1667C= (p.Ala556=) c.1613C= (p.Ala538=) c.1517C= (p.Ala506=) c.1487C= (p.Ala496=) c.1412C= (p.Ala471=) c.1310C= (p.Ala437=) c.941C= (p.Ala314=) | |
| 5 | g.112834997C>G | CA16025234 | APC | c.1455C>G (p.Ser485Arg) c.1844C>G (p.Ala615Gly) c.*1796C>G (n.*1796C>G) c.1736C>G (p.Ala579Gly) c.1790C>G (p.Ala597Gly) c.143C>G c.479C>G (p.Ala160Gly) c.*1112C>G (n.*1112C>G) c.230+6025C>G c.1820C>G (p.Ala607Gly) c.1715C>G (p.Ala572Gly) c.1706C>G (p.Ala569Gly) c.1667C>G (p.Ala556Gly) c.1613C>G (p.Ala538Gly) c.1517C>G (p.Ala506Gly) c.1487C>G (p.Ala496Gly) c.1412C>G (p.Ala471Gly) c.1310C>G (p.Ala437Gly) c.941C>G (p.Ala314Gly) | dbSNP |
| 5 | g.112834997C>T | CA16025235 | APC | c.1455C>T (p.Ser485=) c.1844C>T (p.Ala615Val) c.*1796C>T (n.*1796C>T) c.1736C>T (p.Ala579Val) c.1790C>T (p.Ala597Val) c.143C>T c.479C>T (p.Ala160Val) c.*1112C>T (n.*1112C>T) c.230+6025C>T c.1820C>T (p.Ala607Val) c.1715C>T (p.Ala572Val) c.1706C>T (p.Ala569Val) c.1667C>T (p.Ala556Val) c.1613C>T (p.Ala538Val) c.1517C>T (p.Ala506Val) c.1487C>T (p.Ala496Val) c.1412C>T (p.Ala471Val) c.1310C>T (p.Ala437Val) c.941C>T (p.Ala314Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112834998A>C | CA445758838 | APC | c.1456A>C (p.Thr486Pro) c.1845A>C (p.Ala615=) c.*1797A>C (n.*1797A>C) c.1737A>C (p.Ala579=) c.1791A>C (p.Ala597=) c.144A>C c.480A>C (p.Ala160=) c.*1113A>C (n.*1113A>C) c.230+6026A>C c.1821A>C (p.Ala607=) c.1716A>C (p.Ala572=) c.1707A>C (p.Ala569=) c.1668A>C (p.Ala556=) c.1614A>C (p.Ala538=) c.1518A>C (p.Ala506=) c.1488A>C (p.Ala496=) c.1413A>C (p.Ala471=) c.1311A>C (p.Ala437=) c.942A>C (p.Ala314=) | |
| 5 | g.112834998A>G | CA445758839 | APC | c.1456A>G (p.Thr486Ala) c.1845A>G (p.Ala615=) c.*1797A>G (n.*1797A>G) c.1737A>G (p.Ala579=) c.1791A>G (p.Ala597=) c.144A>G c.480A>G (p.Ala160=) c.*1113A>G (n.*1113A>G) c.230+6026A>G c.1821A>G (p.Ala607=) c.1716A>G (p.Ala572=) c.1707A>G (p.Ala569=) c.1668A>G (p.Ala556=) c.1614A>G (p.Ala538=) c.1518A>G (p.Ala506=) c.1488A>G (p.Ala496=) c.1413A>G (p.Ala471=) c.1311A>G (p.Ala437=) c.942A>G (p.Ala314=) | gnomAD v4 |
| 5 | g.112834998A>T | CA445758840 | APC | c.1456A>T (p.Thr486Ser) c.1845A>T (p.Ala615=) c.*1797A>T (n.*1797A>T) c.1737A>T (p.Ala579=) c.1791A>T (p.Ala597=) c.144A>T c.480A>T (p.Ala160=) c.*1113A>T (n.*1113A>T) c.230+6026A>T c.1821A>T (p.Ala607=) c.1716A>T (p.Ala572=) c.1707A>T (p.Ala569=) c.1668A>T (p.Ala556=) c.1614A>T (p.Ala538=) c.1518A>T (p.Ala506=) c.1488A>T (p.Ala496=) c.1413A>T (p.Ala471=) c.1311A>T (p.Ala437=) c.942A>T (p.Ala314=) | dbSNP |
| 5 | g.112834999C>A | CA16025236 | APC | c.1457C>A (p.Thr486Lys) c.1846C>A (p.His616Asn) c.*1798C>A (n.*1798C>A) c.1738C>A (p.His580Asn) c.1792C>A (p.His598Asn) c.145C>A c.481C>A (p.His161Asn) c.*1114C>A (n.*1114C>A) c.230+6027C>A c.1822C>A (p.His608Asn) c.1717C>A (p.His573Asn) c.1708C>A (p.His570Asn) c.1669C>A (p.His557Asn) c.1615C>A (p.His539Asn) c.1519C>A (p.His507Asn) c.1489C>A (p.His497Asn) c.1414C>A (p.His472Asn) c.1312C>A (p.His438Asn) c.943C>A (p.His315Asn) | |
| 5 | g.112834999C>G | CA16025237 | APC | c.1457C>G (p.Thr486Arg) c.1846C>G (p.His616Asp) c.*1798C>G (n.*1798C>G) c.1738C>G (p.His580Asp) c.1792C>G (p.His598Asp) c.145C>G c.481C>G (p.His161Asp) c.*1114C>G (n.*1114C>G) c.230+6027C>G c.1822C>G (p.His608Asp) c.1717C>G (p.His573Asp) c.1708C>G (p.His570Asp) c.1669C>G (p.His557Asp) c.1615C>G (p.His539Asp) c.1519C>G (p.His507Asp) c.1489C>G (p.His497Asp) c.1414C>G (p.His472Asp) c.1312C>G (p.His438Asp) c.943C>G (p.His315Asp) | dbSNP |
| 5 | g.112834999C>T | CA16025238 | APC | c.1457C>T (p.Thr486Ile) c.1846C>T (p.His616Tyr) c.*1798C>T (n.*1798C>T) c.1738C>T (p.His580Tyr) c.1792C>T (p.His598Tyr) c.145C>T c.481C>T (p.His161Tyr) c.*1114C>T (n.*1114C>T) c.230+6027C>T c.1822C>T (p.His608Tyr) c.1717C>T (p.His573Tyr) c.1708C>T (p.His570Tyr) c.1669C>T (p.His557Tyr) c.1615C>T (p.His539Tyr) c.1519C>T (p.His507Tyr) c.1489C>T (p.His497Tyr) c.1414C>T (p.His472Tyr) c.1312C>T (p.His438Tyr) c.943C>T (p.His315Tyr) | dbSNP COSMIC |
| 5 | g.112835000A>C | CA16025239 | APC | c.1458A>C (p.Thr486=) c.1847A>C (p.His616Pro) c.*1799A>C (n.*1799A>C) c.1739A>C (p.His580Pro) c.1793A>C (p.His598Pro) c.146A>C c.482A>C (p.His161Pro) c.*1115A>C (n.*1115A>C) c.230+6028A>C c.1823A>C (p.His608Pro) c.1718A>C (p.His573Pro) c.1709A>C (p.His570Pro) c.1670A>C (p.His557Pro) c.1616A>C (p.His539Pro) c.1520A>C (p.His507Pro) c.1490A>C (p.His497Pro) c.1415A>C (p.His472Pro) c.1313A>C (p.His438Pro) c.944A>C (p.His315Pro) | |
| 5 | g.112835000A>G | CA16025240 | APC | c.1458A>G (p.Thr486=) c.1847A>G (p.His616Arg) c.*1799A>G (n.*1799A>G) c.1739A>G (p.His580Arg) c.1793A>G (p.His598Arg) c.146A>G c.482A>G (p.His161Arg) c.*1115A>G (n.*1115A>G) c.230+6028A>G c.1823A>G (p.His608Arg) c.1718A>G (p.His573Arg) c.1709A>G (p.His570Arg) c.1670A>G (p.His557Arg) c.1616A>G (p.His539Arg) c.1520A>G (p.His507Arg) c.1490A>G (p.His497Arg) c.1415A>G (p.His472Arg) c.1313A>G (p.His438Arg) c.944A>G (p.His315Arg) | gnomAD v4 |
| 5 | g.112835000A>T | CA16025241 | APC | c.1458A>T (p.Thr486=) c.1847A>T (p.His616Leu) c.*1799A>T (n.*1799A>T) c.1739A>T (p.His580Leu) c.1793A>T (p.His598Leu) c.146A>T c.482A>T (p.His161Leu) c.*1115A>T (n.*1115A>T) c.230+6028A>T c.1823A>T (p.His608Leu) c.1718A>T (p.His573Leu) c.1709A>T (p.His570Leu) c.1670A>T (p.His557Leu) c.1616A>T (p.His539Leu) c.1520A>T (p.His507Leu) c.1490A>T (p.His497Leu) c.1415A>T (p.His472Leu) c.1313A>T (p.His438Leu) c.944A>T (p.His315Leu) | dbSNP gnomAD v4 |
| 5 | g.112835001T>A | CA16025242 | APC | c.1459T>A (p.Leu487Met) c.1848T>A (p.His616Gln) c.*1800T>A (n.*1800T>A) c.1740T>A (p.His580Gln) c.1794T>A (p.His598Gln) c.147T>A c.483T>A (p.His161Gln) c.*1116T>A (n.*1116T>A) c.230+6029T>A c.1824T>A (p.His608Gln) c.1719T>A (p.His573Gln) c.1710T>A (p.His570Gln) c.1671T>A (p.His557Gln) c.1617T>A (p.His539Gln) c.1521T>A (p.His507Gln) c.1491T>A (p.His497Gln) c.1416T>A (p.His472Gln) c.1314T>A (p.His438Gln) c.945T>A (p.His315Gln) | dbSNP |
| 5 | g.112835001T>C | CA445758841 | APC | c.1459T>C (p.Leu487=) c.1848T>C (p.His616=) c.*1800T>C (n.*1800T>C) c.1740T>C (p.His580=) c.1794T>C (p.His598=) c.147T>C c.483T>C (p.His161=) c.*1116T>C (n.*1116T>C) c.230+6029T>C c.1824T>C (p.His608=) c.1719T>C (p.His573=) c.1710T>C (p.His570=) c.1671T>C (p.His557=) c.1617T>C (p.His539=) c.1521T>C (p.His507=) c.1491T>C (p.His497=) c.1416T>C (p.His472=) c.1314T>C (p.His438=) c.945T>C (p.His315=) | ClinVar dbSNP |
| 5 | g.112835001T>G | CA16025243 | APC | c.1459T>G (p.Leu487Val) c.1848T>G (p.His616Gln) c.*1800T>G (n.*1800T>G) c.1740T>G (p.His580Gln) c.1794T>G (p.His598Gln) c.147T>G c.483T>G (p.His161Gln) c.*1116T>G (n.*1116T>G) c.230+6029T>G c.1824T>G (p.His608Gln) c.1719T>G (p.His573Gln) c.1710T>G (p.His570Gln) c.1671T>G (p.His557Gln) c.1617T>G (p.His539Gln) c.1521T>G (p.His507Gln) c.1491T>G (p.His497Gln) c.1416T>G (p.His472Gln) c.1314T>G (p.His438Gln) c.945T>G (p.His315Gln) | |
| 5 | g.112835002del | CA645562812 | APC | c.1460del (p.Leu487CysfsTer?) c.1849del (p.Cys617AlafsTer11) c.*1801del (n.*1801del) c.1741del (p.Cys581AlafsTer11) c.1795del (p.Cys599AlafsTer11) c.148del c.484del (p.Cys162AlafsTer11) c.*1117del (n.*1117del) c.230+6030del c.1825del (p.Cys609AlafsTer11) c.1720del (p.Cys574AlafsTer11) c.1711del (p.Cys571AlafsTer11) c.1672del (p.Cys558AlafsTer11) c.1618del (p.Cys540AlafsTer11) c.1522del (p.Cys508AlafsTer11) c.1492del (p.Cys498AlafsTer11) c.1417del (p.Cys473AlafsTer11) c.1315del (p.Cys439AlafsTer11) c.946del (p.Cys316AlafsTer11) | COSMIC |
| 5 | g.112835002T>A | CA16025244 | APC | c.1460T>A (p.Leu487Ter) c.1849T>A (p.Cys617Ser) c.*1801T>A (n.*1801T>A) c.1741T>A (p.Cys581Ser) c.1795T>A (p.Cys599Ser) c.148T>A c.484T>A (p.Cys162Ser) c.*1117T>A (n.*1117T>A) c.230+6030T>A c.1825T>A (p.Cys609Ser) c.1720T>A (p.Cys574Ser) c.1711T>A (p.Cys571Ser) c.1672T>A (p.Cys558Ser) c.1618T>A (p.Cys540Ser) c.1522T>A (p.Cys508Ser) c.1492T>A (p.Cys498Ser) c.1417T>A (p.Cys473Ser) c.1315T>A (p.Cys439Ser) c.946T>A (p.Cys316Ser) | dbSNP |
| 5 | g.112835002T>C | CA16025245 | APC | c.1460T>C (p.Leu487Ser) c.1849T>C (p.Cys617Arg) c.*1801T>C (n.*1801T>C) c.1741T>C (p.Cys581Arg) c.1795T>C (p.Cys599Arg) c.148T>C c.484T>C (p.Cys162Arg) c.*1117T>C (n.*1117T>C) c.230+6030T>C c.1825T>C (p.Cys609Arg) c.1720T>C (p.Cys574Arg) c.1711T>C (p.Cys571Arg) c.1672T>C (p.Cys558Arg) c.1618T>C (p.Cys540Arg) c.1522T>C (p.Cys508Arg) c.1492T>C (p.Cys498Arg) c.1417T>C (p.Cys473Arg) c.1315T>C (p.Cys439Arg) c.946T>C (p.Cys316Arg) | |
| 5 | g.112835002T>G | CA16025246 | APC | c.1460T>G (p.Leu487Trp) c.1849T>G (p.Cys617Gly) c.*1801T>G (n.*1801T>G) c.1741T>G (p.Cys581Gly) c.1795T>G (p.Cys599Gly) c.148T>G c.484T>G (p.Cys162Gly) c.*1117T>G (n.*1117T>G) c.230+6030T>G c.1825T>G (p.Cys609Gly) c.1720T>G (p.Cys574Gly) c.1711T>G (p.Cys571Gly) c.1672T>G (p.Cys558Gly) c.1618T>G (p.Cys540Gly) c.1522T>G (p.Cys508Gly) c.1492T>G (p.Cys498Gly) c.1417T>G (p.Cys473Gly) c.1315T>G (p.Cys439Gly) c.946T>G (p.Cys316Gly) | |
| 5 | g.112835003G>A | CA16025247 | APC | c.1461G>A (p.Leu487=) c.1850G>A (p.Cys617Tyr) c.*1802G>A (n.*1802G>A) c.1742G>A (p.Cys581Tyr) c.1796G>A (p.Cys599Tyr) c.149G>A c.485G>A (p.Cys162Tyr) c.*1118G>A (n.*1118G>A) c.230+6031G>A c.1826G>A (p.Cys609Tyr) c.1721G>A (p.Cys574Tyr) c.1712G>A (p.Cys571Tyr) c.1673G>A (p.Cys558Tyr) c.1619G>A (p.Cys540Tyr) c.1523G>A (p.Cys508Tyr) c.1493G>A (p.Cys498Tyr) c.1418G>A (p.Cys473Tyr) c.1316G>A (p.Cys439Tyr) c.947G>A (p.Cys316Tyr) | dbSNP |
| 5 | g.112835003G>C | CA16025248 | APC | c.1461G>C (p.Leu487Phe) c.1850G>C (p.Cys617Ser) c.*1802G>C (n.*1802G>C) c.1742G>C (p.Cys581Ser) c.1796G>C (p.Cys599Ser) c.149G>C c.485G>C (p.Cys162Ser) c.*1118G>C (n.*1118G>C) c.230+6031G>C c.1826G>C (p.Cys609Ser) c.1721G>C (p.Cys574Ser) c.1712G>C (p.Cys571Ser) c.1673G>C (p.Cys558Ser) c.1619G>C (p.Cys540Ser) c.1523G>C (p.Cys508Ser) c.1493G>C (p.Cys498Ser) c.1418G>C (p.Cys473Ser) c.1316G>C (p.Cys439Ser) c.947G>C (p.Cys316Ser) | dbSNP |
| 5 | g.112835003G>T | CA16025249 | APC | c.1461G>T (p.Leu487Phe) c.1850G>T (p.Cys617Phe) c.*1802G>T (n.*1802G>T) c.1742G>T (p.Cys581Phe) c.1796G>T (p.Cys599Phe) c.149G>T c.485G>T (p.Cys162Phe) c.*1118G>T (n.*1118G>T) c.230+6031G>T c.1826G>T (p.Cys609Phe) c.1721G>T (p.Cys574Phe) c.1712G>T (p.Cys571Phe) c.1673G>T (p.Cys558Phe) c.1619G>T (p.Cys540Phe) c.1523G>T (p.Cys508Phe) c.1493G>T (p.Cys498Phe) c.1418G>T (p.Cys473Phe) c.1316G>T (p.Cys439Phe) c.947G>T (p.Cys316Phe) | dbSNP gnomAD v4 |
| 5 | g.112835004del | CA445758843 | APC | c.1462del (p.His488ThrfsTer?) c.1851del (p.Cys617Ter) c.*1803del (n.*1803del) c.1743del (p.Cys581Ter) c.1797del (p.Cys599Ter) c.150del c.486del (p.Cys162Ter) c.*1119del (n.*1119del) c.230+6032del c.1827del (p.Cys609Ter) c.1722del (p.Cys574Ter) c.1713del (p.Cys571Ter) c.1674del (p.Cys558Ter) c.1620del (p.Cys540Ter) c.1524del (p.Cys508Ter) c.1494del (p.Cys498Ter) c.1419del (p.Cys473Ter) c.1317del (p.Cys439Ter) c.948del (p.Cys316Ter) | COSMIC |
| 5 | g.112835004C>A | CA16025250 | APC | c.1462C>A (p.His488Asn) c.1851C>A (p.Cys617Ter) c.*1803C>A (n.*1803C>A) c.1743C>A (p.Cys581Ter) c.1797C>A (p.Cys599Ter) c.150C>A c.486C>A (p.Cys162Ter) c.*1119C>A (n.*1119C>A) c.230+6032C>A c.1827C>A (p.Cys609Ter) c.1722C>A (p.Cys574Ter) c.1713C>A (p.Cys571Ter) c.1674C>A (p.Cys558Ter) c.1620C>A (p.Cys540Ter) c.1524C>A (p.Cys508Ter) c.1494C>A (p.Cys498Ter) c.1419C>A (p.Cys473Ter) c.1317C>A (p.Cys439Ter) c.948C>A (p.Cys316Ter) | ClinVar dbSNP |
| 5 | g.112835004C= | CA1573470602 | APC | c.1462C= (p.His488=) c.1851C= (p.Cys617=) c.*1803C= (n.*1803C=) c.1743C= (p.Cys581=) c.1797C= (p.Cys599=) c.150C= c.486C= (p.Cys162=) c.*1119C= (n.*1119C=) c.230+6032C= c.1827C= (p.Cys609=) c.1722C= (p.Cys574=) c.1713C= (p.Cys571=) c.1674C= (p.Cys558=) c.1620C= (p.Cys540=) c.1524C= (p.Cys508=) c.1494C= (p.Cys498=) c.1419C= (p.Cys473=) c.1317C= (p.Cys439=) c.948C= (p.Cys316=) | |
| 5 | g.112835004C>G | CA16025251 | APC | c.1462C>G (p.His488Asp) c.1851C>G (p.Cys617Trp) c.*1803C>G (n.*1803C>G) c.1743C>G (p.Cys581Trp) c.1797C>G (p.Cys599Trp) c.150C>G c.486C>G (p.Cys162Trp) c.*1119C>G (n.*1119C>G) c.230+6032C>G c.1827C>G (p.Cys609Trp) c.1722C>G (p.Cys574Trp) c.1713C>G (p.Cys571Trp) c.1674C>G (p.Cys558Trp) c.1620C>G (p.Cys540Trp) c.1524C>G (p.Cys508Trp) c.1494C>G (p.Cys498Trp) c.1419C>G (p.Cys473Trp) c.1317C>G (p.Cys439Trp) c.948C>G (p.Cys316Trp) | dbSNP |
| 5 | g.112835004C>T | CA445758842 | APC | c.1462C>T (p.His488Tyr) c.1851C>T (p.Cys617=) c.*1803C>T (n.*1803C>T) c.1743C>T (p.Cys581=) c.1797C>T (p.Cys599=) c.150C>T c.486C>T (p.Cys162=) c.*1119C>T (n.*1119C>T) c.230+6032C>T c.1827C>T (p.Cys609=) c.1722C>T (p.Cys574=) c.1713C>T (p.Cys571=) c.1674C>T (p.Cys558=) c.1620C>T (p.Cys540=) c.1524C>T (p.Cys508=) c.1494C>T (p.Cys498=) c.1419C>T (p.Cys473=) c.1317C>T (p.Cys439=) c.948C>T (p.Cys316=) | ClinVar dbSNP |
| 5 | g.112835005_112835006del | CA2695205040 | APC | c.1463_1464del (p.His488LeufsTer10) c.1852_1853del (p.Thr618Ter) c.*1804_*1805del (n.*1804_*1805del) c.1744_1745del (p.Thr582Ter) c.1798_1799del (p.Thr600Ter) c.151_152del c.487_488del (p.Thr163Ter) c.*1120_*1121del (n.*1120_*1121del) c.230+6033_230+6034del c.1828_1829del (p.Thr610Ter) c.1723_1724del (p.Thr575Ter) c.1714_1715del (p.Thr572Ter) c.1675_1676del (p.Thr559Ter) c.1621_1622del (p.Thr541Ter) c.1525_1526del (p.Thr509Ter) c.1495_1496del (p.Thr499Ter) c.1420_1421del (p.Thr474Ter) c.1318_1319del (p.Thr440Ter) c.949_950del (p.Thr317Ter) | |
| 5 | g.112835005del | CA2573138913 | APC | c.1463del (p.His488ProfsTer?) c.1852del (p.Thr618LeufsTer10) c.*1804del (n.*1804del) c.1744del (p.Thr582LeufsTer10) c.1798del (p.Thr600LeufsTer10) c.151del c.487del (p.Thr163LeufsTer10) c.*1120del (n.*1120del) c.230+6033del c.1828del (p.Thr610LeufsTer10) c.1723del (p.Thr575LeufsTer10) c.1714del (p.Thr572LeufsTer10) c.1675del (p.Thr559LeufsTer10) c.1621del (p.Thr541LeufsTer10) c.1525del (p.Thr509LeufsTer10) c.1495del (p.Thr499LeufsTer10) c.1420del (p.Thr474LeufsTer10) c.1318del (p.Thr440LeufsTer10) c.949del (p.Thr317LeufsTer10) | ClinVar dbSNP |
| 5 | g.112835005A>C | CA16025252 | APC | c.1463A>C (p.His488Pro) c.1852A>C (p.Thr618Pro) c.*1804A>C (n.*1804A>C) c.1744A>C (p.Thr582Pro) c.1798A>C (p.Thr600Pro) c.151A>C c.487A>C (p.Thr163Pro) c.*1120A>C (n.*1120A>C) c.230+6033A>C c.1828A>C (p.Thr610Pro) c.1723A>C (p.Thr575Pro) c.1714A>C (p.Thr572Pro) c.1675A>C (p.Thr559Pro) c.1621A>C (p.Thr541Pro) c.1525A>C (p.Thr509Pro) c.1495A>C (p.Thr499Pro) c.1420A>C (p.Thr474Pro) c.1318A>C (p.Thr440Pro) c.949A>C (p.Thr317Pro) | dbSNP |
| 5 | g.112835005A>G | CA16025253 | APC | c.1463A>G (p.His488Arg) c.1852A>G (p.Thr618Ala) c.*1804A>G (n.*1804A>G) c.1744A>G (p.Thr582Ala) c.1798A>G (p.Thr600Ala) c.151A>G c.487A>G (p.Thr163Ala) c.*1120A>G (n.*1120A>G) c.230+6033A>G c.1828A>G (p.Thr610Ala) c.1723A>G (p.Thr575Ala) c.1714A>G (p.Thr572Ala) c.1675A>G (p.Thr559Ala) c.1621A>G (p.Thr541Ala) c.1525A>G (p.Thr509Ala) c.1495A>G (p.Thr499Ala) c.1420A>G (p.Thr474Ala) c.1318A>G (p.Thr440Ala) c.949A>G (p.Thr317Ala) | ClinVar |
| 5 | g.112835005A>T | CA16025254 | APC | c.1463A>T (p.His488Leu) c.1852A>T (p.Thr618Ser) c.*1804A>T (n.*1804A>T) c.1744A>T (p.Thr582Ser) c.1798A>T (p.Thr600Ser) c.151A>T c.487A>T (p.Thr163Ser) c.*1120A>T (n.*1120A>T) c.230+6033A>T c.1828A>T (p.Thr610Ser) c.1723A>T (p.Thr575Ser) c.1714A>T (p.Thr572Ser) c.1675A>T (p.Thr559Ser) c.1621A>T (p.Thr541Ser) c.1525A>T (p.Thr509Ser) c.1495A>T (p.Thr499Ser) c.1420A>T (p.Thr474Ser) c.1318A>T (p.Thr440Ser) c.949A>T (p.Thr317Ser) | dbSNP |
| 5 | g.112835006C>A | CA16025255 | APC | c.1464C>A (p.His488Gln) c.1853C>A (p.Thr618Asn) c.*1805C>A (n.*1805C>A) c.1745C>A (p.Thr582Asn) c.1799C>A (p.Thr600Asn) c.152C>A c.488C>A (p.Thr163Asn) c.*1121C>A (n.*1121C>A) c.230+6034C>A c.1829C>A (p.Thr610Asn) c.1724C>A (p.Thr575Asn) c.1715C>A (p.Thr572Asn) c.1676C>A (p.Thr559Asn) c.1622C>A (p.Thr541Asn) c.1526C>A (p.Thr509Asn) c.1496C>A (p.Thr499Asn) c.1421C>A (p.Thr474Asn) c.1319C>A (p.Thr440Asn) c.950C>A (p.Thr317Asn) | dbSNP |
| 5 | g.112835006C= | CA1573470608 | APC | c.1464C= (p.His488=) c.1853C= (p.Thr618=) c.*1805C= (n.*1805C=) c.1745C= (p.Thr582=) c.1799C= (p.Thr600=) c.152C= c.488C= (p.Thr163=) c.*1121C= (n.*1121C=) c.230+6034C= c.1829C= (p.Thr610=) c.1724C= (p.Thr575=) c.1715C= (p.Thr572=) c.1676C= (p.Thr559=) c.1622C= (p.Thr541=) c.1526C= (p.Thr509=) c.1496C= (p.Thr499=) c.1421C= (p.Thr474=) c.1319C= (p.Thr440=) c.950C= (p.Thr317=) | |
| 5 | g.112835006C>G | CA16025256 | APC | c.1464C>G (p.His488Gln) c.1853C>G (p.Thr618Ser) c.*1805C>G (n.*1805C>G) c.1745C>G (p.Thr582Ser) c.1799C>G (p.Thr600Ser) c.152C>G c.488C>G (p.Thr163Ser) c.*1121C>G (n.*1121C>G) c.230+6034C>G c.1829C>G (p.Thr610Ser) c.1724C>G (p.Thr575Ser) c.1715C>G (p.Thr572Ser) c.1676C>G (p.Thr559Ser) c.1622C>G (p.Thr541Ser) c.1526C>G (p.Thr509Ser) c.1496C>G (p.Thr499Ser) c.1421C>G (p.Thr474Ser) c.1319C>G (p.Thr440Ser) c.950C>G (p.Thr317Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112835006C>T | CA16025257 | APC | c.1464C>T (p.His488=) c.1853C>T (p.Thr618Ile) c.*1805C>T (n.*1805C>T) c.1745C>T (p.Thr582Ile) c.1799C>T (p.Thr600Ile) c.152C>T c.488C>T (p.Thr163Ile) c.*1121C>T (n.*1121C>T) c.230+6034C>T c.1829C>T (p.Thr610Ile) c.1724C>T (p.Thr575Ile) c.1715C>T (p.Thr572Ile) c.1676C>T (p.Thr559Ile) c.1622C>T (p.Thr541Ile) c.1526C>T (p.Thr509Ile) c.1496C>T (p.Thr499Ile) c.1421C>T (p.Thr474Ile) c.1319C>T (p.Thr440Ile) c.950C>T (p.Thr317Ile) | |
| 5 | g.112835007T>A | CA445758844 | APC | c.1465T>A (p.Ter489Arg) c.1854T>A (p.Thr618=) c.*1806T>A (n.*1806T>A) c.1746T>A (p.Thr582=) c.1800T>A (p.Thr600=) c.153T>A c.489T>A (p.Thr163=) c.*1122T>A (n.*1122T>A) c.230+6035T>A c.1830T>A (p.Thr610=) c.1725T>A (p.Thr575=) c.1716T>A (p.Thr572=) c.1677T>A (p.Thr559=) c.1623T>A (p.Thr541=) c.1527T>A (p.Thr509=) c.1497T>A (p.Thr499=) c.1422T>A (p.Thr474=) c.1320T>A (p.Thr440=) c.951T>A (p.Thr317=) | dbSNP |
| 5 | g.112835007T>C | CA445758845 | APC | c.1465T>C (p.Ter489Arg) c.1854T>C (p.Thr618=) c.*1806T>C (n.*1806T>C) c.1746T>C (p.Thr582=) c.1800T>C (p.Thr600=) c.153T>C c.489T>C (p.Thr163=) c.*1122T>C (n.*1122T>C) c.230+6035T>C c.1830T>C (p.Thr610=) c.1725T>C (p.Thr575=) c.1716T>C (p.Thr572=) c.1677T>C (p.Thr559=) c.1623T>C (p.Thr541=) c.1527T>C (p.Thr509=) c.1497T>C (p.Thr499=) c.1422T>C (p.Thr474=) c.1320T>C (p.Thr440=) c.951T>C (p.Thr317=) | |
| 5 | g.112835007T>G | CA445758846 | APC | c.1465T>G (p.Ter489Gly) c.1854T>G (p.Thr618=) c.*1806T>G (n.*1806T>G) c.1746T>G (p.Thr582=) c.1800T>G (p.Thr600=) c.153T>G c.489T>G (p.Thr163=) c.*1122T>G (n.*1122T>G) c.230+6035T>G c.1830T>G (p.Thr610=) c.1725T>G (p.Thr575=) c.1716T>G (p.Thr572=) c.1677T>G (p.Thr559=) c.1623T>G (p.Thr541=) c.1527T>G (p.Thr509=) c.1497T>G (p.Thr499=) c.1422T>G (p.Thr474=) c.1320T>G (p.Thr440=) c.951T>G (p.Thr317=) | ClinVar |
| 5 | g.112835008G>A | CA16025258 | APC | c.1466G>A (p.Ter489=) c.1855G>A (p.Glu619Lys) c.*1807G>A (n.*1807G>A) c.1747G>A (p.Glu583Lys) c.1801G>A (p.Glu601Lys) c.154G>A c.490G>A (p.Glu164Lys) c.*1123G>A (n.*1123G>A) c.230+6036G>A c.1831G>A (p.Glu611Lys) c.1726G>A (p.Glu576Lys) c.1717G>A (p.Glu573Lys) c.1678G>A (p.Glu560Lys) c.1624G>A (p.Glu542Lys) c.1528G>A (p.Glu510Lys) c.1498G>A (p.Glu500Lys) c.1423G>A (p.Glu475Lys) c.1321G>A (p.Glu441Lys) c.952G>A (p.Glu318Lys) | |
| 5 | g.112835008G>C | CA16025259 | APC | c.1466G>C (p.Ter489Ser) c.1855G>C (p.Glu619Gln) c.*1807G>C (n.*1807G>C) c.1747G>C (p.Glu583Gln) c.1801G>C (p.Glu601Gln) c.154G>C c.490G>C (p.Glu164Gln) c.*1123G>C (n.*1123G>C) c.230+6036G>C c.1831G>C (p.Glu611Gln) c.1726G>C (p.Glu576Gln) c.1717G>C (p.Glu573Gln) c.1678G>C (p.Glu560Gln) c.1624G>C (p.Glu542Gln) c.1528G>C (p.Glu510Gln) c.1498G>C (p.Glu500Gln) c.1423G>C (p.Glu475Gln) c.1321G>C (p.Glu441Gln) c.952G>C (p.Glu318Gln) | dbSNP |
| 5 | g.112835008G>T | CA16025260 | APC | c.1466G>T (p.Ter489Leu) c.1855G>T (p.Glu619Ter) c.*1807G>T (n.*1807G>T) c.1747G>T (p.Glu583Ter) c.1801G>T (p.Glu601Ter) c.154G>T c.490G>T (p.Glu164Ter) c.*1123G>T (n.*1123G>T) c.230+6036G>T c.1831G>T (p.Glu611Ter) c.1726G>T (p.Glu576Ter) c.1717G>T (p.Glu573Ter) c.1678G>T (p.Glu560Ter) c.1624G>T (p.Glu542Ter) c.1528G>T (p.Glu510Ter) c.1498G>T (p.Glu500Ter) c.1423G>T (p.Glu475Ter) c.1321G>T (p.Glu441Ter) c.952G>T (p.Glu318Ter) | ClinVar dbSNP |
| 5 | g.112835009A= | CA1573470614 | APC | c.1467A= (p.Ter489=) c.1856A= (p.Glu619=) c.*1808A= (n.*1808A=) c.1748A= (p.Glu583=) c.1802A= (p.Glu601=) c.155A= c.491A= (p.Glu164=) c.*1124A= (n.*1124A=) c.230+6037A= c.1832A= (p.Glu611=) c.1727A= (p.Glu576=) c.1718A= (p.Glu573=) c.1679A= (p.Glu560=) c.1625A= (p.Glu542=) c.1529A= (p.Glu510=) c.1499A= (p.Glu500=) c.1424A= (p.Glu475=) c.1322A= (p.Glu441=) c.953A= (p.Glu318=) |