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.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=) | |
| 5 | g.112835009A>C | CA16025261 | APC | c.1467A>C (p.Ter489Cys) c.1856A>C (p.Glu619Ala) c.*1808A>C (n.*1808A>C) c.1748A>C (p.Glu583Ala) c.1802A>C (p.Glu601Ala) c.155A>C c.491A>C (p.Glu164Ala) c.*1124A>C (n.*1124A>C) c.230+6037A>C c.1832A>C (p.Glu611Ala) c.1727A>C (p.Glu576Ala) c.1718A>C (p.Glu573Ala) c.1679A>C (p.Glu560Ala) c.1625A>C (p.Glu542Ala) c.1529A>C (p.Glu510Ala) c.1499A>C (p.Glu500Ala) c.1424A>C (p.Glu475Ala) c.1322A>C (p.Glu441Ala) c.953A>C (p.Glu318Ala) | |
| 5 | g.112835009A>G | CA16025262 | APC | c.1467A>G (p.Ter489Trp) c.1856A>G (p.Glu619Gly) c.*1808A>G (n.*1808A>G) c.1748A>G (p.Glu583Gly) c.1802A>G (p.Glu601Gly) c.155A>G c.491A>G (p.Glu164Gly) c.*1124A>G (n.*1124A>G) c.230+6037A>G c.1832A>G (p.Glu611Gly) c.1727A>G (p.Glu576Gly) c.1718A>G (p.Glu573Gly) c.1679A>G (p.Glu560Gly) c.1625A>G (p.Glu542Gly) c.1529A>G (p.Glu510Gly) c.1499A>G (p.Glu500Gly) c.1424A>G (p.Glu475Gly) c.1322A>G (p.Glu441Gly) c.953A>G (p.Glu318Gly) | ClinVar dbSNP |
| 5 | g.112835009A>T | CA16025263 | APC | c.1467A>T (p.Ter489Cys) c.1856A>T (p.Glu619Val) c.*1808A>T (n.*1808A>T) c.1748A>T (p.Glu583Val) c.1802A>T (p.Glu601Val) c.155A>T c.491A>T (p.Glu164Val) c.*1124A>T (n.*1124A>T) c.230+6037A>T c.1832A>T (p.Glu611Val) c.1727A>T (p.Glu576Val) c.1718A>T (p.Glu573Val) c.1679A>T (p.Glu560Val) c.1625A>T (p.Glu542Val) c.1529A>T (p.Glu510Val) c.1499A>T (p.Glu500Val) c.1424A>T (p.Glu475Val) c.1322A>T (p.Glu441Val) c.953A>T (p.Glu318Val) | dbSNP |
| 5 | g.112835010G>A | CA445758847 | APC | c.1468G>A (n.1468G>A) c.1857G>A (p.Glu619=) c.*1809G>A (n.*1809G>A) c.1749G>A (p.Glu583=) c.1803G>A (p.Glu601=) c.156G>A c.492G>A (p.Glu164=) c.*1125G>A (n.*1125G>A) c.230+6038G>A c.1833G>A (p.Glu611=) c.1728G>A (p.Glu576=) c.1719G>A (p.Glu573=) c.1680G>A (p.Glu560=) c.1626G>A (p.Glu542=) c.1530G>A (p.Glu510=) c.1500G>A (p.Glu500=) c.1425G>A (p.Glu475=) c.1323G>A (p.Glu441=) c.954G>A (p.Glu318=) | dbSNP |
| 5 | g.112835010G>C | CA16025264 | APC | c.1468G>C (n.1468G>C) c.1857G>C (p.Glu619Asp) c.*1809G>C (n.*1809G>C) c.1749G>C (p.Glu583Asp) c.1803G>C (p.Glu601Asp) c.156G>C c.492G>C (p.Glu164Asp) c.*1125G>C (n.*1125G>C) c.230+6038G>C c.1833G>C (p.Glu611Asp) c.1728G>C (p.Glu576Asp) c.1719G>C (p.Glu573Asp) c.1680G>C (p.Glu560Asp) c.1626G>C (p.Glu542Asp) c.1530G>C (p.Glu510Asp) c.1500G>C (p.Glu500Asp) c.1425G>C (p.Glu475Asp) c.1323G>C (p.Glu441Asp) c.954G>C (p.Glu318Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112835010G= | CA1573470622 | APC | c.1468G= (n.1468G=) c.1857G= (p.Glu619=) c.*1809G= (n.*1809G=) c.1749G= (p.Glu583=) c.1803G= (p.Glu601=) c.156G= c.492G= (p.Glu164=) c.*1125G= (n.*1125G=) c.230+6038G= c.1833G= (p.Glu611=) c.1728G= (p.Glu576=) c.1719G= (p.Glu573=) c.1680G= (p.Glu560=) c.1626G= (p.Glu542=) c.1530G= (p.Glu510=) c.1500G= (p.Glu500=) c.1425G= (p.Glu475=) c.1323G= (p.Glu441=) c.954G= (p.Glu318=) | |
| 5 | g.112835010G>T | CA16025265 | APC | c.1468G>T (n.1468G>T) c.1857G>T (p.Glu619Asp) c.*1809G>T (n.*1809G>T) c.1749G>T (p.Glu583Asp) c.1803G>T (p.Glu601Asp) c.156G>T c.492G>T (p.Glu164Asp) c.*1125G>T (n.*1125G>T) c.230+6038G>T c.1833G>T (p.Glu611Asp) c.1728G>T (p.Glu576Asp) c.1719G>T (p.Glu573Asp) c.1680G>T (p.Glu560Asp) c.1626G>T (p.Glu542Asp) c.1530G>T (p.Glu510Asp) c.1500G>T (p.Glu500Asp) c.1425G>T (p.Glu475Asp) c.1323G>T (p.Glu441Asp) c.954G>T (p.Glu318Asp) | ClinVar |
| 5 | g.112835011A>C | CA16025266 | APC | c.1469A>C (n.1469A>C) c.1858A>C (p.Asn620His) c.*1810A>C (n.*1810A>C) c.1750A>C (p.Asn584His) c.1804A>C (p.Asn602His) c.157A>C c.493A>C (p.Asn165His) c.*1126A>C (n.*1126A>C) c.230+6039A>C c.1834A>C (p.Asn612His) c.1729A>C (p.Asn577His) c.1720A>C (p.Asn574His) c.1681A>C (p.Asn561His) c.1627A>C (p.Asn543His) c.1531A>C (p.Asn511His) c.1501A>C (p.Asn501His) c.1426A>C (p.Asn476His) c.1324A>C (p.Asn442His) c.955A>C (p.Asn319His) | |
| 5 | g.112835011A>G | CA16025267 | APC | c.1469A>G (n.1469A>G) c.1858A>G (p.Asn620Asp) c.*1810A>G (n.*1810A>G) c.1750A>G (p.Asn584Asp) c.1804A>G (p.Asn602Asp) c.157A>G c.493A>G (p.Asn165Asp) c.*1126A>G (n.*1126A>G) c.230+6039A>G c.1834A>G (p.Asn612Asp) c.1729A>G (p.Asn577Asp) c.1720A>G (p.Asn574Asp) c.1681A>G (p.Asn561Asp) c.1627A>G (p.Asn543Asp) c.1531A>G (p.Asn511Asp) c.1501A>G (p.Asn501Asp) c.1426A>G (p.Asn476Asp) c.1324A>G (p.Asn442Asp) c.955A>G (p.Asn319Asp) | |
| 5 | g.112835011A>T | CA16025268 | APC | c.1469A>T (n.1469A>T) c.1858A>T (p.Asn620Tyr) c.*1810A>T (n.*1810A>T) c.1750A>T (p.Asn584Tyr) c.1804A>T (p.Asn602Tyr) c.157A>T c.493A>T (p.Asn165Tyr) c.*1126A>T (n.*1126A>T) c.230+6039A>T c.1834A>T (p.Asn612Tyr) c.1729A>T (p.Asn577Tyr) c.1720A>T (p.Asn574Tyr) c.1681A>T (p.Asn561Tyr) c.1627A>T (p.Asn543Tyr) c.1531A>T (p.Asn511Tyr) c.1501A>T (p.Asn501Tyr) c.1426A>T (p.Asn476Tyr) c.1324A>T (p.Asn442Tyr) c.955A>T (p.Asn319Tyr) | ClinVar dbSNP |
| 5 | g.112835012del | CA2695205041 | APC | c.1470del (n.1470del) c.1859del (p.Asn620IlefsTer8) c.*1811del (n.*1811del) c.1751del (p.Asn584IlefsTer8) c.1805del (p.Asn602IlefsTer8) c.158del c.494del (p.Asn165IlefsTer8) c.*1127del (n.*1127del) c.230+6040del c.1835del (p.Asn612IlefsTer8) c.1730del (p.Asn577IlefsTer8) c.1721del (p.Asn574IlefsTer8) c.1682del (p.Asn561IlefsTer8) c.1628del (p.Asn543IlefsTer8) c.1532del (p.Asn511IlefsTer8) c.1502del (p.Asn501IlefsTer8) c.1427del (p.Asn476IlefsTer8) c.1325del (p.Asn442IlefsTer8) c.956del (p.Asn319IlefsTer8) | |
| 5 | g.112835013_112835016del | CA2582341324 | APC | c.1471_1474del (n.1471_1474del) c.1860_1863del (p.Asn620LysfsTer7) c.*1812_*1815del (n.*1812_*1815del) c.1752_1755del (p.Asn584LysfsTer7) c.1806_1809del (p.Asn602LysfsTer7) c.159_162del c.495_498del (p.Asn165LysfsTer7) c.*1128_*1131del (n.*1128_*1131del) c.230+6041_230+6044del c.1836_1839del (p.Asn612LysfsTer7) c.1731_1734del (p.Asn577LysfsTer7) c.1722_1725del (p.Asn574LysfsTer7) c.1683_1686del (p.Asn561LysfsTer7) c.1629_1632del (p.Asn543LysfsTer7) c.1533_1536del (p.Asn511LysfsTer7) c.1503_1506del (p.Asn501LysfsTer7) c.1428_1431del (p.Asn476LysfsTer7) c.1326_1329del (p.Asn442LysfsTer7) c.957_960del (p.Asn319LysfsTer7) | ClinVar |
| 5 | g.112835012A= | CA1573470639 | APC | c.1470A= (n.1470A=) c.1859A= (p.Asn620=) c.*1811A= (n.*1811A=) c.1751A= (p.Asn584=) c.1805A= (p.Asn602=) c.158A= c.494A= (p.Asn165=) c.*1127A= (n.*1127A=) c.230+6040A= c.1835A= (p.Asn612=) c.1730A= (p.Asn577=) c.1721A= (p.Asn574=) c.1682A= (p.Asn561=) c.1628A= (p.Asn543=) c.1532A= (p.Asn511=) c.1502A= (p.Asn501=) c.1427A= (p.Asn476=) c.1325A= (p.Asn442=) c.956A= (p.Asn319=) | |
| 5 | g.112835012A>C | CA16025269 | APC | c.1470A>C (n.1470A>C) c.1859A>C (p.Asn620Thr) c.*1811A>C (n.*1811A>C) c.1751A>C (p.Asn584Thr) c.1805A>C (p.Asn602Thr) c.158A>C c.494A>C (p.Asn165Thr) c.*1127A>C (n.*1127A>C) c.230+6040A>C c.1835A>C (p.Asn612Thr) c.1730A>C (p.Asn577Thr) c.1721A>C (p.Asn574Thr) c.1682A>C (p.Asn561Thr) c.1628A>C (p.Asn543Thr) c.1532A>C (p.Asn511Thr) c.1502A>C (p.Asn501Thr) c.1427A>C (p.Asn476Thr) c.1325A>C (p.Asn442Thr) c.956A>C (p.Asn319Thr) | |
| 5 | g.112835012A>G | CA16025270 | APC | c.1470A>G (n.1470A>G) c.1859A>G (p.Asn620Ser) c.*1811A>G (n.*1811A>G) c.1751A>G (p.Asn584Ser) c.1805A>G (p.Asn602Ser) c.158A>G c.494A>G (p.Asn165Ser) c.*1127A>G (n.*1127A>G) c.230+6040A>G c.1835A>G (p.Asn612Ser) c.1730A>G (p.Asn577Ser) c.1721A>G (p.Asn574Ser) c.1682A>G (p.Asn561Ser) c.1628A>G (p.Asn543Ser) c.1532A>G (p.Asn511Ser) c.1502A>G (p.Asn501Ser) c.1427A>G (p.Asn476Ser) c.1325A>G (p.Asn442Ser) c.956A>G (p.Asn319Ser) | ClinVar dbSNP |
| 5 | g.112835012A>T | CA16025271 | APC | c.1470A>T (n.1470A>T) c.1859A>T (p.Asn620Ile) c.*1811A>T (n.*1811A>T) c.1751A>T (p.Asn584Ile) c.1805A>T (p.Asn602Ile) c.158A>T c.494A>T (p.Asn165Ile) c.*1127A>T (n.*1127A>T) c.230+6040A>T c.1835A>T (p.Asn612Ile) c.1730A>T (p.Asn577Ile) c.1721A>T (p.Asn574Ile) c.1682A>T (p.Asn561Ile) c.1628A>T (p.Asn543Ile) c.1532A>T (p.Asn511Ile) c.1502A>T (p.Asn501Ile) c.1427A>T (p.Asn476Ile) c.1325A>T (p.Asn442Ile) c.956A>T (p.Asn319Ile) | ClinVar dbSNP |
| 5 | g.112835013T>A | CA16025272 | APC | c.1471T>A (n.1471T>A) c.1860T>A (p.Asn620Lys) c.*1812T>A (n.*1812T>A) c.1752T>A (p.Asn584Lys) c.1806T>A (p.Asn602Lys) c.159T>A c.495T>A (p.Asn165Lys) c.*1128T>A (n.*1128T>A) c.230+6041T>A c.1836T>A (p.Asn612Lys) c.1731T>A (p.Asn577Lys) c.1722T>A (p.Asn574Lys) c.1683T>A (p.Asn561Lys) c.1629T>A (p.Asn543Lys) c.1533T>A (p.Asn511Lys) c.1503T>A (p.Asn501Lys) c.1428T>A (p.Asn476Lys) c.1326T>A (p.Asn442Lys) c.957T>A (p.Asn319Lys) | |
| 5 | g.112835013T>C | CA445758848 | APC | c.1471T>C (n.1471T>C) c.1860T>C (p.Asn620=) c.*1812T>C (n.*1812T>C) c.1752T>C (p.Asn584=) c.1806T>C (p.Asn602=) c.159T>C c.495T>C (p.Asn165=) c.*1128T>C (n.*1128T>C) c.230+6041T>C c.1836T>C (p.Asn612=) c.1731T>C (p.Asn577=) c.1722T>C (p.Asn574=) c.1683T>C (p.Asn561=) c.1629T>C (p.Asn543=) c.1533T>C (p.Asn511=) c.1503T>C (p.Asn501=) c.1428T>C (p.Asn476=) c.1326T>C (p.Asn442=) c.957T>C (p.Asn319=) | ClinVar dbSNP |
| 5 | g.112835013T>G | CA16025273 | APC | c.1471T>G (n.1471T>G) c.1860T>G (p.Asn620Lys) c.*1812T>G (n.*1812T>G) c.1752T>G (p.Asn584Lys) c.1806T>G (p.Asn602Lys) c.159T>G c.495T>G (p.Asn165Lys) c.*1128T>G (n.*1128T>G) c.230+6041T>G c.1836T>G (p.Asn612Lys) c.1731T>G (p.Asn577Lys) c.1722T>G (p.Asn574Lys) c.1683T>G (p.Asn561Lys) c.1629T>G (p.Asn543Lys) c.1533T>G (p.Asn511Lys) c.1503T>G (p.Asn501Lys) c.1428T>G (p.Asn476Lys) c.1326T>G (p.Asn442Lys) c.957T>G (p.Asn319Lys) | |
| 5 | g.112835013_112835014delinsTA | CA1573470651 | APC | c.1471_1472delinsTA (n.1471_1472delinsTA) c.1860_1861delinsTA (p.Asn620=) c.*1812_*1813delinsTA (n.*1812_*1813delinsTA) c.1752_1753delinsTA (p.Asn584=) c.1806_1807delinsTA (p.Asn602=) c.159_160delinsTA c.495_496delinsTA (p.Asn165=) c.*1128_*1129delinsTA (n.*1128_*1129delinsTA) c.230+6041_230+6042delinsTA c.1836_1837delinsTA (p.Asn612=) c.1731_1732delinsTA (p.Asn577=) c.1722_1723delinsTA (p.Asn574=) c.1683_1684delinsTA (p.Asn561=) c.1629_1630delinsTA (p.Asn543=) c.1533_1534delinsTA (p.Asn511=) c.1503_1504delinsTA (p.Asn501=) c.1428_1429delinsTA (p.Asn476=) c.1326_1327delinsTA (p.Asn442=) c.957_958delinsTA (p.Asn319=) | |
| 5 | g.112835014A>C | CA16025274 | APC | c.1472A>C (n.1472A>C) c.1861A>C (p.Lys621Gln) c.*1813A>C (n.*1813A>C) c.1753A>C (p.Lys585Gln) c.1807A>C (p.Lys603Gln) c.160A>C c.496A>C (p.Lys166Gln) c.*1129A>C (n.*1129A>C) c.230+6042A>C c.1837A>C (p.Lys613Gln) c.1732A>C (p.Lys578Gln) c.1723A>C (p.Lys575Gln) c.1684A>C (p.Lys562Gln) c.1630A>C (p.Lys544Gln) c.1534A>C (p.Lys512Gln) c.1504A>C (p.Lys502Gln) c.1429A>C (p.Lys477Gln) c.1327A>C (p.Lys443Gln) c.958A>C (p.Lys320Gln) | |
| 5 | g.112835014A>G | CA16025275 | APC | c.1472A>G (n.1472A>G) c.1861A>G (p.Lys621Glu) c.*1813A>G (n.*1813A>G) c.1753A>G (p.Lys585Glu) c.1807A>G (p.Lys603Glu) c.160A>G c.496A>G (p.Lys166Glu) c.*1129A>G (n.*1129A>G) c.230+6042A>G c.1837A>G (p.Lys613Glu) c.1732A>G (p.Lys578Glu) c.1723A>G (p.Lys575Glu) c.1684A>G (p.Lys562Glu) c.1630A>G (p.Lys544Glu) c.1534A>G (p.Lys512Glu) c.1504A>G (p.Lys502Glu) c.1429A>G (p.Lys477Glu) c.1327A>G (p.Lys443Glu) c.958A>G (p.Lys320Glu) | ClinVar dbSNP |
| 5 | g.112835014A>T | CA16025276 | APC | c.1472A>T (n.1472A>T) c.1861A>T (p.Lys621Ter) c.*1813A>T (n.*1813A>T) c.1753A>T (p.Lys585Ter) c.1807A>T (p.Lys603Ter) c.160A>T c.496A>T (p.Lys166Ter) c.*1129A>T (n.*1129A>T) c.230+6042A>T c.1837A>T (p.Lys613Ter) c.1732A>T (p.Lys578Ter) c.1723A>T (p.Lys575Ter) c.1684A>T (p.Lys562Ter) c.1630A>T (p.Lys544Ter) c.1534A>T (p.Lys512Ter) c.1504A>T (p.Lys502Ter) c.1429A>T (p.Lys477Ter) c.1327A>T (p.Lys443Ter) c.958A>T (p.Lys320Ter) | dbSNP |
| 5 | g.112835016dup | CA2580072469 | APC | c.1474dup (n.1474dup) c.1863dup (p.Ala622SerfsTer2) c.*1815dup (n.*1815dup) c.1755dup (p.Ala586SerfsTer2) c.1809dup (p.Ala604SerfsTer2) c.162dup c.498dup (p.Ala167SerfsTer2) c.*1131dup (n.*1131dup) c.230+6044dup c.1839dup (p.Ala614SerfsTer2) c.1734dup (p.Ala579SerfsTer2) c.1725dup (p.Ala576SerfsTer2) c.1686dup (p.Ala563SerfsTer2) c.1632dup (p.Ala545SerfsTer2) c.1536dup (p.Ala513SerfsTer2) c.1506dup (p.Ala503SerfsTer2) c.1431dup (p.Ala478SerfsTer2) c.1329dup (p.Ala444SerfsTer2) c.960dup (p.Ala321SerfsTer2) | ClinVar |
| 5 | g.112835016del | CA916080340 | APC | c.1474del (n.1474del) c.1863del (p.Ala622LeufsTer6) c.*1815del (n.*1815del) c.1755del (p.Ala586LeufsTer6) c.1809del (p.Ala604LeufsTer6) c.162del c.498del (p.Ala167LeufsTer6) c.*1131del (n.*1131del) c.230+6044del c.1839del (p.Ala614LeufsTer6) c.1734del (p.Ala579LeufsTer6) c.1725del (p.Ala576LeufsTer6) c.1686del (p.Ala563LeufsTer6) c.1632del (p.Ala545LeufsTer6) c.1536del (p.Ala513LeufsTer6) c.1506del (p.Ala503LeufsTer6) c.1431del (p.Ala478LeufsTer6) c.1329del (p.Ala444LeufsTer6) c.960del (p.Ala321LeufsTer6) | ClinVar dbSNP |
| 5 | g.112835015A>C | CA16025277 | APC | c.1473A>C (n.1473A>C) c.1862A>C (p.Lys621Thr) c.*1814A>C (n.*1814A>C) c.1754A>C (p.Lys585Thr) c.1808A>C (p.Lys603Thr) c.161A>C c.497A>C (p.Lys166Thr) c.*1130A>C (n.*1130A>C) c.230+6043A>C c.1838A>C (p.Lys613Thr) c.1733A>C (p.Lys578Thr) c.1724A>C (p.Lys575Thr) c.1685A>C (p.Lys562Thr) c.1631A>C (p.Lys544Thr) c.1535A>C (p.Lys512Thr) c.1505A>C (p.Lys502Thr) c.1430A>C (p.Lys477Thr) c.1328A>C (p.Lys443Thr) c.959A>C (p.Lys320Thr) | |
| 5 | g.112835015A>G | CA16025278 | APC | c.1473A>G (n.1473A>G) c.1862A>G (p.Lys621Arg) c.*1814A>G (n.*1814A>G) c.1754A>G (p.Lys585Arg) c.1808A>G (p.Lys603Arg) c.161A>G c.497A>G (p.Lys166Arg) c.*1130A>G (n.*1130A>G) c.230+6043A>G c.1838A>G (p.Lys613Arg) c.1733A>G (p.Lys578Arg) c.1724A>G (p.Lys575Arg) c.1685A>G (p.Lys562Arg) c.1631A>G (p.Lys544Arg) c.1535A>G (p.Lys512Arg) c.1505A>G (p.Lys502Arg) c.1430A>G (p.Lys477Arg) c.1328A>G (p.Lys443Arg) c.959A>G (p.Lys320Arg) | |
| 5 | g.112835015A>T | CA16025279 | APC | c.1473A>T (n.1473A>T) c.1862A>T (p.Lys621Ile) c.*1814A>T (n.*1814A>T) c.1754A>T (p.Lys585Ile) c.1808A>T (p.Lys603Ile) c.161A>T c.497A>T (p.Lys166Ile) c.*1130A>T (n.*1130A>T) c.230+6043A>T c.1838A>T (p.Lys613Ile) c.1733A>T (p.Lys578Ile) c.1724A>T (p.Lys575Ile) c.1685A>T (p.Lys562Ile) c.1631A>T (p.Lys544Ile) c.1535A>T (p.Lys512Ile) c.1505A>T (p.Lys502Ile) c.1430A>T (p.Lys477Ile) c.1328A>T (p.Lys443Ile) c.959A>T (p.Lys320Ile) | dbSNP |
| 5 | g.112835016_112835023dup | CA2499217459 | APC | c.1474_1481dup (n.1474_1481dup) c.1863_1870dup (p.Ile624LysfsTer7) c.*1815_*1822dup (n.*1815_*1822dup) c.1755_1762dup (p.Ile588LysfsTer7) c.1809_1816dup (p.Ile606LysfsTer7) c.162_169dup c.498_505dup (p.Ile169LysfsTer7) c.*1131_*1138dup (n.*1131_*1138dup) c.230+6044_230+6051dup c.1839_1846dup (p.Ile616LysfsTer7) c.1734_1741dup (p.Ile581LysfsTer7) c.1725_1732dup (p.Ile578LysfsTer7) c.1686_1693dup (p.Ile565LysfsTer7) c.1632_1639dup (p.Ile547LysfsTer7) c.1536_1543dup (p.Ile515LysfsTer7) c.1506_1513dup (p.Ile505LysfsTer7) c.1431_1438dup (p.Ile480LysfsTer7) c.1329_1336dup (p.Ile446LysfsTer7) c.960_967dup (p.Ile323LysfsTer7) | ClinVar dbSNP |
| 5 | g.112835016A>C | CA16025280 | APC | c.1474A>C (n.1474A>C) c.1863A>C (p.Lys621Asn) c.*1815A>C (n.*1815A>C) c.1755A>C (p.Lys585Asn) c.1809A>C (p.Lys603Asn) c.162A>C c.498A>C (p.Lys166Asn) c.*1131A>C (n.*1131A>C) c.230+6044A>C c.1839A>C (p.Lys613Asn) c.1734A>C (p.Lys578Asn) c.1725A>C (p.Lys575Asn) c.1686A>C (p.Lys562Asn) c.1632A>C (p.Lys544Asn) c.1536A>C (p.Lys512Asn) c.1506A>C (p.Lys502Asn) c.1431A>C (p.Lys477Asn) c.1329A>C (p.Lys443Asn) c.960A>C (p.Lys320Asn) | |
| 5 | g.112835016A>G | CA445758849 | APC | c.1474A>G (n.1474A>G) c.1863A>G (p.Lys621=) c.*1815A>G (n.*1815A>G) c.1755A>G (p.Lys585=) c.1809A>G (p.Lys603=) c.162A>G c.498A>G (p.Lys166=) c.*1131A>G (n.*1131A>G) c.230+6044A>G c.1839A>G (p.Lys613=) c.1734A>G (p.Lys578=) c.1725A>G (p.Lys575=) c.1686A>G (p.Lys562=) c.1632A>G (p.Lys544=) c.1536A>G (p.Lys512=) c.1506A>G (p.Lys502=) c.1431A>G (p.Lys477=) c.1329A>G (p.Lys443=) c.960A>G (p.Lys320=) | |
| 5 | g.112835016A>T | CA16025281 | APC | c.1474A>T (n.1474A>T) c.1863A>T (p.Lys621Asn) c.*1815A>T (n.*1815A>T) c.1755A>T (p.Lys585Asn) c.1809A>T (p.Lys603Asn) c.162A>T c.498A>T (p.Lys166Asn) c.*1131A>T (n.*1131A>T) c.230+6044A>T c.1839A>T (p.Lys613Asn) c.1734A>T (p.Lys578Asn) c.1725A>T (p.Lys575Asn) c.1686A>T (p.Lys562Asn) c.1632A>T (p.Lys544Asn) c.1536A>T (p.Lys512Asn) c.1506A>T (p.Lys502Asn) c.1431A>T (p.Lys477Asn) c.1329A>T (p.Lys443Asn) c.960A>T (p.Lys320Asn) | dbSNP |