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.112835091_112835104dup | CA2695205050 | APC | c.1549_1562dup (n.1549_1562dup) c.1938_1951dup (p.Glu651ValfsTer2) c.*1890_*1903dup (n.*1890_*1903dup) c.1830_1843dup (p.Glu615ValfsTer2) c.1884_1897dup (p.Glu633ValfsTer2) c.237_250dup c.573_586dup (p.Glu196ValfsTer2) c.*1206_*1219dup (n.*1206_*1219dup) c.230+6119_230+6132dup c.1914_1927dup (p.Glu643ValfsTer2) c.1809_1822dup (p.Glu608ValfsTer2) c.1800_1813dup (p.Glu605ValfsTer2) c.1761_1774dup (p.Glu592ValfsTer2) c.1707_1720dup (p.Glu574ValfsTer2) c.1611_1624dup (p.Glu542ValfsTer2) c.1581_1594dup (p.Glu532ValfsTer2) c.1506_1519dup (p.Glu507ValfsTer2) c.1404_1417dup (p.Glu473ValfsTer2) c.1035_1048dup (p.Glu350ValfsTer2) | |
| 5 | g.112835095_112835101del | CA2697546205 | APC | c.1553_1559del (n.1553_1559del) c.1942_1948del (p.Ala648LeufsTer14) c.*1894_*1900del (n.*1894_*1900del) c.1834_1840del (p.Ala612LeufsTer14) c.1888_1894del (p.Ala630LeufsTer14) c.241_247del c.577_583del (p.Ala193LeufsTer14) c.*1210_*1216del (n.*1210_*1216del) c.230+6123_230+6129del c.1918_1924del (p.Ala640LeufsTer14) c.1813_1819del (p.Ala605LeufsTer14) c.1804_1810del (p.Ala602LeufsTer14) c.1765_1771del (p.Ala589LeufsTer14) c.1711_1717del (p.Ala571LeufsTer14) c.1615_1621del (p.Ala539LeufsTer14) c.1585_1591del (p.Ala529LeufsTer14) c.1510_1516del (p.Ala504LeufsTer14) c.1408_1414del (p.Ala470LeufsTer14) c.1039_1045del (p.Ala347LeufsTer14) | ClinVar |
| 5 | g.112835094_112835101del | CA2573138914 | APC | c.1552_1559del (n.1552_1559del) c.1941_1948del (p.Leu647PhefsTer2) c.*1893_*1900del (n.*1893_*1900del) c.1833_1840del (p.Leu611PhefsTer2) c.1887_1894del (p.Leu629PhefsTer2) c.240_247del c.576_583del (p.Leu192PhefsTer2) c.*1209_*1216del (n.*1209_*1216del) c.230+6122_230+6129del c.1917_1924del (p.Leu639PhefsTer2) c.1812_1819del (p.Leu604PhefsTer2) c.1803_1810del (p.Leu601PhefsTer2) c.1764_1771del (p.Leu588PhefsTer2) c.1710_1717del (p.Leu570PhefsTer2) c.1614_1621del (p.Leu538PhefsTer2) c.1584_1591del (p.Leu528PhefsTer2) c.1509_1516del (p.Leu503PhefsTer2) c.1407_1414del (p.Leu469PhefsTer2) c.1038_1045del (p.Leu346PhefsTer2) | ClinVar dbSNP |
| 5 | g.112835096C>A | CA16025449 | APC | c.1554C>A (n.1554C>A) c.1943C>A (p.Ala648Asp) c.*1895C>A (n.*1895C>A) c.1835C>A (p.Ala612Asp) c.1889C>A (p.Ala630Asp) c.242C>A c.578C>A (p.Ala193Asp) c.*1211C>A (n.*1211C>A) c.230+6124C>A c.1919C>A (p.Ala640Asp) c.1814C>A (p.Ala605Asp) c.1805C>A (p.Ala602Asp) c.1766C>A (p.Ala589Asp) c.1712C>A (p.Ala571Asp) c.1616C>A (p.Ala539Asp) c.1586C>A (p.Ala529Asp) c.1511C>A (p.Ala504Asp) c.1409C>A (p.Ala470Asp) c.1040C>A (p.Ala347Asp) | dbSNP |
| 5 | g.112835096C= | CA1573471285 | APC | c.1554C= (n.1554C=) c.1943C= (p.Ala648=) c.*1895C= (n.*1895C=) c.1835C= (p.Ala612=) c.1889C= (p.Ala630=) c.242C= c.578C= (p.Ala193=) c.*1211C= (n.*1211C=) c.230+6124C= c.1919C= (p.Ala640=) c.1814C= (p.Ala605=) c.1805C= (p.Ala602=) c.1766C= (p.Ala589=) c.1712C= (p.Ala571=) c.1616C= (p.Ala539=) c.1586C= (p.Ala529=) c.1511C= (p.Ala504=) c.1409C= (p.Ala470=) c.1040C= (p.Ala347=) | |
| 5 | g.112835096C>G | CA16025450 | APC | c.1554C>G (n.1554C>G) c.1943C>G (p.Ala648Gly) c.*1895C>G (n.*1895C>G) c.1835C>G (p.Ala612Gly) c.1889C>G (p.Ala630Gly) c.242C>G c.578C>G (p.Ala193Gly) c.*1211C>G (n.*1211C>G) c.230+6124C>G c.1919C>G (p.Ala640Gly) c.1814C>G (p.Ala605Gly) c.1805C>G (p.Ala602Gly) c.1766C>G (p.Ala589Gly) c.1712C>G (p.Ala571Gly) c.1616C>G (p.Ala539Gly) c.1586C>G (p.Ala529Gly) c.1511C>G (p.Ala504Gly) c.1409C>G (p.Ala470Gly) c.1040C>G (p.Ala347Gly) | dbSNP |
| 5 | g.112835096C>T | CA16025451 | APC | c.1554C>T (n.1554C>T) c.1943C>T (p.Ala648Val) c.*1895C>T (n.*1895C>T) c.1835C>T (p.Ala612Val) c.1889C>T (p.Ala630Val) c.242C>T c.578C>T (p.Ala193Val) c.*1211C>T (n.*1211C>T) c.230+6124C>T c.1919C>T (p.Ala640Val) c.1814C>T (p.Ala605Val) c.1805C>T (p.Ala602Val) c.1766C>T (p.Ala589Val) c.1712C>T (p.Ala571Val) c.1616C>T (p.Ala539Val) c.1586C>T (p.Ala529Val) c.1511C>T (p.Ala504Val) c.1409C>T (p.Ala470Val) c.1040C>T (p.Ala347Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112835097del | CA658760616 | APC | c.1555del (n.1555del) c.1944del (p.Ile649LeufsTer15) c.*1896del (n.*1896del) c.1836del (p.Ile613LeufsTer15) c.1890del (p.Ile631LeufsTer15) c.243del c.579del (p.Ile194LeufsTer15) c.*1212del (n.*1212del) c.230+6125del c.1920del (p.Ile641LeufsTer15) c.1815del (p.Ile606LeufsTer15) c.1806del (p.Ile603LeufsTer15) c.1767del (p.Ile590LeufsTer15) c.1713del (p.Ile572LeufsTer15) c.1617del (p.Ile540LeufsTer15) c.1587del (p.Ile530LeufsTer15) c.1512del (p.Ile505LeufsTer15) c.1410del (p.Ile471LeufsTer15) c.1041del (p.Ile348LeufsTer15) | |
| 5 | g.112835097C>A | CA445758905 | APC | c.1555C>A (n.1555C>A) c.1944C>A (p.Ala648=) c.*1896C>A (n.*1896C>A) c.1836C>A (p.Ala612=) c.1890C>A (p.Ala630=) c.243C>A c.579C>A (p.Ala193=) c.*1212C>A (n.*1212C>A) c.230+6125C>A c.1920C>A (p.Ala640=) c.1815C>A (p.Ala605=) c.1806C>A (p.Ala602=) c.1767C>A (p.Ala589=) c.1713C>A (p.Ala571=) c.1617C>A (p.Ala539=) c.1587C>A (p.Ala529=) c.1512C>A (p.Ala504=) c.1410C>A (p.Ala470=) c.1041C>A (p.Ala347=) | dbSNP |
| 5 | g.112835097C>G | CA445758907 | APC | c.1555C>G (n.1555C>G) c.1944C>G (p.Ala648=) c.*1896C>G (n.*1896C>G) c.1836C>G (p.Ala612=) c.1890C>G (p.Ala630=) c.243C>G c.579C>G (p.Ala193=) c.*1212C>G (n.*1212C>G) c.230+6125C>G c.1920C>G (p.Ala640=) c.1815C>G (p.Ala605=) c.1806C>G (p.Ala602=) c.1767C>G (p.Ala589=) c.1713C>G (p.Ala571=) c.1617C>G (p.Ala539=) c.1587C>G (p.Ala529=) c.1512C>G (p.Ala504=) c.1410C>G (p.Ala470=) c.1041C>G (p.Ala347=) | ClinVar dbSNP |
| 5 | g.112835097C>T | CA445758906 | APC | c.1555C>T (n.1555C>T) c.1944C>T (p.Ala648=) c.*1896C>T (n.*1896C>T) c.1836C>T (p.Ala612=) c.1890C>T (p.Ala630=) c.243C>T c.579C>T (p.Ala193=) c.*1212C>T (n.*1212C>T) c.230+6125C>T c.1920C>T (p.Ala640=) c.1815C>T (p.Ala605=) c.1806C>T (p.Ala602=) c.1767C>T (p.Ala589=) c.1713C>T (p.Ala571=) c.1617C>T (p.Ala539=) c.1587C>T (p.Ala529=) c.1512C>T (p.Ala504=) c.1410C>T (p.Ala470=) c.1041C>T (p.Ala347=) | dbSNP |
| 5 | g.112835097_112835098delinsCA | CA1573471288 | APC | c.1555_1556delinsCA (n.1555_1556delinsCA) c.1944_1945delinsCA (p.Ala648=) c.*1896_*1897delinsCA (n.*1896_*1897delinsCA) c.1836_1837delinsCA (p.Ala612=) c.1890_1891delinsCA (p.Ala630=) c.243_244delinsCA c.579_580delinsCA (p.Ala193=) c.*1212_*1213delinsCA (n.*1212_*1213delinsCA) c.230+6125_230+6126delinsCA c.1920_1921delinsCA (p.Ala640=) c.1815_1816delinsCA (p.Ala605=) c.1806_1807delinsCA (p.Ala602=) c.1767_1768delinsCA (p.Ala589=) c.1713_1714delinsCA (p.Ala571=) c.1617_1618delinsCA (p.Ala539=) c.1587_1588delinsCA (p.Ala529=) c.1512_1513delinsCA (p.Ala504=) c.1410_1411delinsCA (p.Ala470=) c.1041_1042delinsCA (p.Ala347=) | |
| 5 | g.112835097_112835098insTA | CA2695205051 | APC | c.1555_1556insTA (n.1555_1556insTA) c.1944_1945insTA (p.Ile649Ter) c.*1896_*1897insTA (n.*1896_*1897insTA) c.1836_1837insTA (p.Ile613Ter) c.1890_1891insTA (p.Ile631Ter) c.243_244insTA c.579_580insTA (p.Ile194Ter) c.*1212_*1213insTA (n.*1212_*1213insTA) c.230+6125_230+6126insTA c.1920_1921insTA (p.Ile641Ter) c.1815_1816insTA (p.Ile606Ter) c.1806_1807insTA (p.Ile603Ter) c.1767_1768insTA (p.Ile590Ter) c.1713_1714insTA (p.Ile572Ter) c.1617_1618insTA (p.Ile540Ter) c.1587_1588insTA (p.Ile530Ter) c.1512_1513insTA (p.Ile505Ter) c.1410_1411insTA (p.Ile471Ter) c.1041_1042insTA (p.Ile348Ter) | |
| 5 | g.112835098del | CA1573471290 | APC | c.1556del (n.1556del) c.1945del (p.Ile649LeufsTer15) c.*1897del (n.*1897del) c.1837del (p.Ile613LeufsTer15) c.1891del (p.Ile631LeufsTer15) c.244del c.580del (p.Ile194LeufsTer15) c.*1213del (n.*1213del) c.230+6126del c.1921del (p.Ile641LeufsTer15) c.1816del (p.Ile606LeufsTer15) c.1807del (p.Ile603LeufsTer15) c.1768del (p.Ile590LeufsTer15) c.1714del (p.Ile572LeufsTer15) c.1618del (p.Ile540LeufsTer15) c.1588del (p.Ile530LeufsTer15) c.1513del (p.Ile505LeufsTer15) c.1411del (p.Ile471LeufsTer15) c.1042del (p.Ile348LeufsTer15) | dbSNP |
| 5 | g.112835098A= | CA1573471301 | APC | c.1556A= (n.1556A=) c.1945A= (p.Ile649=) c.*1897A= (n.*1897A=) c.1837A= (p.Ile613=) c.1891A= (p.Ile631=) c.244A= c.580A= (p.Ile194=) c.*1213A= (n.*1213A=) c.230+6126A= c.1921A= (p.Ile641=) c.1816A= (p.Ile606=) c.1807A= (p.Ile603=) c.1768A= (p.Ile590=) c.1714A= (p.Ile572=) c.1618A= (p.Ile540=) c.1588A= (p.Ile530=) c.1513A= (p.Ile505=) c.1411A= (p.Ile471=) c.1042A= (p.Ile348=) | |
| 5 | g.112835098A>C | CA16025452 | APC | c.1556A>C (n.1556A>C) c.1945A>C (p.Ile649Leu) c.*1897A>C (n.*1897A>C) c.1837A>C (p.Ile613Leu) c.1891A>C (p.Ile631Leu) c.244A>C c.580A>C (p.Ile194Leu) c.*1213A>C (n.*1213A>C) c.230+6126A>C c.1921A>C (p.Ile641Leu) c.1816A>C (p.Ile606Leu) c.1807A>C (p.Ile603Leu) c.1768A>C (p.Ile590Leu) c.1714A>C (p.Ile572Leu) c.1618A>C (p.Ile540Leu) c.1588A>C (p.Ile530Leu) c.1513A>C (p.Ile505Leu) c.1411A>C (p.Ile471Leu) c.1042A>C (p.Ile348Leu) | |
| 5 | g.112835098A>G | CA16025453 | APC | c.1556A>G (n.1556A>G) c.1945A>G (p.Ile649Val) c.*1897A>G (n.*1897A>G) c.1837A>G (p.Ile613Val) c.1891A>G (p.Ile631Val) c.244A>G c.580A>G (p.Ile194Val) c.*1213A>G (n.*1213A>G) c.230+6126A>G c.1921A>G (p.Ile641Val) c.1816A>G (p.Ile606Val) c.1807A>G (p.Ile603Val) c.1768A>G (p.Ile590Val) c.1714A>G (p.Ile572Val) c.1618A>G (p.Ile540Val) c.1588A>G (p.Ile530Val) c.1513A>G (p.Ile505Val) c.1411A>G (p.Ile471Val) c.1042A>G (p.Ile348Val) | ClinVar dbSNP gnomAD v2 |
| 5 | g.112835098A>T | CA16025454 | APC | c.1556A>T (n.1556A>T) c.1945A>T (p.Ile649Phe) c.*1897A>T (n.*1897A>T) c.1837A>T (p.Ile613Phe) c.1891A>T (p.Ile631Phe) c.244A>T c.580A>T (p.Ile194Phe) c.*1213A>T (n.*1213A>T) c.230+6126A>T c.1921A>T (p.Ile641Phe) c.1816A>T (p.Ile606Phe) c.1807A>T (p.Ile603Phe) c.1768A>T (p.Ile590Phe) c.1714A>T (p.Ile572Phe) c.1618A>T (p.Ile540Phe) c.1588A>T (p.Ile530Phe) c.1513A>T (p.Ile505Phe) c.1411A>T (p.Ile471Phe) c.1042A>T (p.Ile348Phe) | |
| 5 | g.112835098_112835099delinsAT | CA1573471305 | APC | c.1556_1557delinsAT (n.1556_1557delinsAT) c.1945_1946delinsAT (p.Ile649=) c.*1897_*1898delinsAT (n.*1897_*1898delinsAT) c.1837_1838delinsAT (p.Ile613=) c.1891_1892delinsAT (p.Ile631=) c.244_245delinsAT c.580_581delinsAT (p.Ile194=) c.*1213_*1214delinsAT (n.*1213_*1214delinsAT) c.230+6126_230+6127delinsAT c.1921_1922delinsAT (p.Ile641=) c.1816_1817delinsAT (p.Ile606=) c.1807_1808delinsAT (p.Ile603=) c.1768_1769delinsAT (p.Ile590=) c.1714_1715delinsAT (p.Ile572=) c.1618_1619delinsAT (p.Ile540=) c.1588_1589delinsAT (p.Ile530=) c.1513_1514delinsAT (p.Ile505=) c.1411_1412delinsAT (p.Ile471=) c.1042_1043delinsAT (p.Ile348=) | |
| 5 | g.112835098_112835111delinsATTATTGAAAGTGG | CA1573471296 | APC | c.1556_1569delinsATTATTGAAAGTGG (n.1556_1569delinsATTATTGAAAGTGG) c.1945_1958delinsATTATTGAAAGTGG (p.Ile649=) c.*1897_*1910delinsATTATTGAAAGTGG (n.*1897_*1910delinsATTATTGAAAGTGG) c.1837_1850delinsATTATTGAAAGTGG (p.Ile613=) c.1891_1904delinsATTATTGAAAGTGG (p.Ile631=) c.244_257delinsATTATTGAAAGTGG c.580_593delinsATTATTGAAAGTGG (p.Ile194=) c.*1213_*1226delinsATTATTGAAAGTGG (n.*1213_*1226delinsATTATTGAAAGTGG) c.230+6126_230+6139delinsATTATTGAAAGTGG c.1921_1934delinsATTATTGAAAGTGG (p.Ile641=) c.1816_1829delinsATTATTGAAAGTGG (p.Ile606=) c.1807_1820delinsATTATTGAAAGTGG (p.Ile603=) c.1768_1781delinsATTATTGAAAGTGG (p.Ile590=) c.1714_1727delinsATTATTGAAAGTGG (p.Ile572=) c.1618_1631delinsATTATTGAAAGTGG (p.Ile540=) c.1588_1601delinsATTATTGAAAGTGG (p.Ile530=) c.1513_1526delinsATTATTGAAAGTGG (p.Ile505=) c.1411_1424delinsATTATTGAAAGTGG (p.Ile471=) c.1042_1055delinsATTATTGAAAGTGG (p.Ile348=) | |
| 5 | g.112835098_112835190delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT | CA1573471303 | APC | c.1556_1623+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1945_2012+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.*1897_*1964+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1837_1904+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1891_1958+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.244_311+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.580_647+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.*1213_*1280+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.230+6126_230+6218delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1921_1988+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1816_1883+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1807_1874+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1768_1835+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1714_1781+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1618_1685+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1588_1655+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1513_1580+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1411_1478+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT c.1042_1109+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT | |
| 5 | g.112835099T>A | CA16025455 | APC | c.1557T>A (n.1557T>A) c.1946T>A (p.Ile649Asn) c.*1898T>A (n.*1898T>A) c.1838T>A (p.Ile613Asn) c.1892T>A (p.Ile631Asn) c.245T>A c.581T>A (p.Ile194Asn) c.*1214T>A (n.*1214T>A) c.230+6127T>A c.1922T>A (p.Ile641Asn) c.1817T>A (p.Ile606Asn) c.1808T>A (p.Ile603Asn) c.1769T>A (p.Ile590Asn) c.1715T>A (p.Ile572Asn) c.1619T>A (p.Ile540Asn) c.1589T>A (p.Ile530Asn) c.1514T>A (p.Ile505Asn) c.1412T>A (p.Ile471Asn) c.1043T>A (p.Ile348Asn) | |
| 5 | g.112835099T>C | CA16025456 | APC | c.1557T>C (n.1557T>C) c.1946T>C (p.Ile649Thr) c.*1898T>C (n.*1898T>C) c.1838T>C (p.Ile613Thr) c.1892T>C (p.Ile631Thr) c.245T>C c.581T>C (p.Ile194Thr) c.*1214T>C (n.*1214T>C) c.230+6127T>C c.1922T>C (p.Ile641Thr) c.1817T>C (p.Ile606Thr) c.1808T>C (p.Ile603Thr) c.1769T>C (p.Ile590Thr) c.1715T>C (p.Ile572Thr) c.1619T>C (p.Ile540Thr) c.1589T>C (p.Ile530Thr) c.1514T>C (p.Ile505Thr) c.1412T>C (p.Ile471Thr) c.1043T>C (p.Ile348Thr) | ClinVar dbSNP |
| 5 | g.112835099T>G | CA16025457 | APC | c.1557T>G (n.1557T>G) c.1946T>G (p.Ile649Ser) c.*1898T>G (n.*1898T>G) c.1838T>G (p.Ile613Ser) c.1892T>G (p.Ile631Ser) c.245T>G c.581T>G (p.Ile194Ser) c.*1214T>G (n.*1214T>G) c.230+6127T>G c.1922T>G (p.Ile641Ser) c.1817T>G (p.Ile606Ser) c.1808T>G (p.Ile603Ser) c.1769T>G (p.Ile590Ser) c.1715T>G (p.Ile572Ser) c.1619T>G (p.Ile540Ser) c.1589T>G (p.Ile530Ser) c.1514T>G (p.Ile505Ser) c.1412T>G (p.Ile471Ser) c.1043T>G (p.Ile348Ser) | gnomAD v4 |
| 5 | g.112835099T= | CA1573471319 | APC | c.1557T= (n.1557T=) c.1946T= (p.Ile649=) c.*1898T= (n.*1898T=) c.1838T= (p.Ile613=) c.1892T= (p.Ile631=) c.245T= c.581T= (p.Ile194=) c.*1214T= (n.*1214T=) c.230+6127T= c.1922T= (p.Ile641=) c.1817T= (p.Ile606=) c.1808T= (p.Ile603=) c.1769T= (p.Ile590=) c.1715T= (p.Ile572=) c.1619T= (p.Ile540=) c.1589T= (p.Ile530=) c.1514T= (p.Ile505=) c.1412T= (p.Ile471=) c.1043T= (p.Ile348=) | |
| 5 | g.112835100del | CA1573471326 | APC | c.1558del (n.1558del) c.1947del (p.Ile650LeufsTer14) c.*1899del (n.*1899del) c.1839del (p.Ile614LeufsTer14) c.1893del (p.Ile632LeufsTer14) c.246del c.582del (p.Ile195LeufsTer14) c.*1215del (n.*1215del) c.230+6128del c.1923del (p.Ile642LeufsTer14) c.1818del (p.Ile607LeufsTer14) c.1809del (p.Ile604LeufsTer14) c.1770del (p.Ile591LeufsTer14) c.1716del (p.Ile573LeufsTer14) c.1620del (p.Ile541LeufsTer14) c.1590del (p.Ile531LeufsTer14) c.1515del (p.Ile506LeufsTer14) c.1413del (p.Ile472LeufsTer14) c.1044del (p.Ile349LeufsTer14) | dbSNP |
| 5 | g.112835099_112835111delinsAAT | CA279732 | APC | c.1557_1569delinsAAT (n.1557_1569delinsAAT) c.1946_1958delinsAAT (p.Ile649LysfsTer2) c.*1898_*1910delinsAAT (n.*1898_*1910delinsAAT) c.1838_1850delinsAAT (p.Ile613LysfsTer2) c.1892_1904delinsAAT (p.Ile631LysfsTer2) c.245_257delinsAAT c.581_593delinsAAT (p.Ile194LysfsTer2) c.*1214_*1226delinsAAT (n.*1214_*1226delinsAAT) c.230+6127_230+6139delinsAAT c.1922_1934delinsAAT (p.Ile641LysfsTer2) c.1817_1829delinsAAT (p.Ile606LysfsTer2) c.1808_1820delinsAAT (p.Ile603LysfsTer2) c.1769_1781delinsAAT (p.Ile590LysfsTer2) c.1715_1727delinsAAT (p.Ile572LysfsTer2) c.1619_1631delinsAAT (p.Ile540LysfsTer2) c.1589_1601delinsAAT (p.Ile530LysfsTer2) c.1514_1526delinsAAT (p.Ile505LysfsTer2) c.1412_1424delinsAAT (p.Ile471LysfsTer2) c.1043_1055delinsAAT (p.Ile348LysfsTer2) | ClinVar dbSNP |
| 5 | g.112835102_112835193del | CA891842600 | APC | c.1560_1623+28del c.1949_2012+28del c.*1901_*1964+28del c.1841_1904+28del c.1895_1958+28del c.248_311+28del c.584_647+28del c.*1217_*1280+28del c.230+6130_230+6221del c.1925_1988+28del c.1820_1883+28del c.1811_1874+28del c.1772_1835+28del c.1718_1781+28del c.1622_1685+28del c.1592_1655+28del c.1517_1580+28del c.1415_1478+28del c.1046_1109+28del | ClinVar dbSNP |
| 5 | g.112835100T>A | CA445758908 | APC | c.1558T>A (n.1558T>A) c.1947T>A (p.Ile649=) c.*1899T>A (n.*1899T>A) c.1839T>A (p.Ile613=) c.1893T>A (p.Ile631=) c.246T>A c.582T>A (p.Ile194=) c.*1215T>A (n.*1215T>A) c.230+6128T>A c.1923T>A (p.Ile641=) c.1818T>A (p.Ile606=) c.1809T>A (p.Ile603=) c.1770T>A (p.Ile590=) c.1716T>A (p.Ile572=) c.1620T>A (p.Ile540=) c.1590T>A (p.Ile530=) c.1515T>A (p.Ile505=) c.1413T>A (p.Ile471=) c.1044T>A (p.Ile348=) | |
| 5 | g.112835100T>C | CA445758909 | APC | c.1558T>C (n.1558T>C) c.1947T>C (p.Ile649=) c.*1899T>C (n.*1899T>C) c.1839T>C (p.Ile613=) c.1893T>C (p.Ile631=) c.246T>C c.582T>C (p.Ile194=) c.*1215T>C (n.*1215T>C) c.230+6128T>C c.1923T>C (p.Ile641=) c.1818T>C (p.Ile606=) c.1809T>C (p.Ile603=) c.1770T>C (p.Ile590=) c.1716T>C (p.Ile572=) c.1620T>C (p.Ile540=) c.1590T>C (p.Ile530=) c.1515T>C (p.Ile505=) c.1413T>C (p.Ile471=) c.1044T>C (p.Ile348=) | gnomAD v4 |
| 5 | g.112835100T>G | CA16025458 | APC | c.1558T>G (n.1558T>G) c.1947T>G (p.Ile649Met) c.*1899T>G (n.*1899T>G) c.1839T>G (p.Ile613Met) c.1893T>G (p.Ile631Met) c.246T>G c.582T>G (p.Ile194Met) c.*1215T>G (n.*1215T>G) c.230+6128T>G c.1923T>G (p.Ile641Met) c.1818T>G (p.Ile606Met) c.1809T>G (p.Ile603Met) c.1770T>G (p.Ile590Met) c.1716T>G (p.Ile572Met) c.1620T>G (p.Ile540Met) c.1590T>G (p.Ile530Met) c.1515T>G (p.Ile505Met) c.1413T>G (p.Ile471Met) c.1044T>G (p.Ile348Met) | |
| 5 | g.112835101A>C | CA16025459 | APC | c.1559A>C (n.1559A>C) c.1948A>C (p.Ile650Leu) c.*1900A>C (n.*1900A>C) c.1840A>C (p.Ile614Leu) c.1894A>C (p.Ile632Leu) c.247A>C c.583A>C (p.Ile195Leu) c.*1216A>C (n.*1216A>C) c.230+6129A>C c.1924A>C (p.Ile642Leu) c.1819A>C (p.Ile607Leu) c.1810A>C (p.Ile604Leu) c.1771A>C (p.Ile591Leu) c.1717A>C (p.Ile573Leu) c.1621A>C (p.Ile541Leu) c.1591A>C (p.Ile531Leu) c.1516A>C (p.Ile506Leu) c.1414A>C (p.Ile472Leu) c.1045A>C (p.Ile349Leu) | |
| 5 | g.112835101A>G | CA16025460 | APC | c.1559A>G (n.1559A>G) c.1948A>G (p.Ile650Val) c.*1900A>G (n.*1900A>G) c.1840A>G (p.Ile614Val) c.1894A>G (p.Ile632Val) c.247A>G c.583A>G (p.Ile195Val) c.*1216A>G (n.*1216A>G) c.230+6129A>G c.1924A>G (p.Ile642Val) c.1819A>G (p.Ile607Val) c.1810A>G (p.Ile604Val) c.1771A>G (p.Ile591Val) c.1717A>G (p.Ile573Val) c.1621A>G (p.Ile541Val) c.1591A>G (p.Ile531Val) c.1516A>G (p.Ile506Val) c.1414A>G (p.Ile472Val) c.1045A>G (p.Ile349Val) | ClinVar |
| 5 | g.112835101A>T | CA16025461 | APC | c.1559A>T (n.1559A>T) c.1948A>T (p.Ile650Phe) c.*1900A>T (n.*1900A>T) c.1840A>T (p.Ile614Phe) c.1894A>T (p.Ile632Phe) c.247A>T c.583A>T (p.Ile195Phe) c.*1216A>T (n.*1216A>T) c.230+6129A>T c.1924A>T (p.Ile642Phe) c.1819A>T (p.Ile607Phe) c.1810A>T (p.Ile604Phe) c.1771A>T (p.Ile591Phe) c.1717A>T (p.Ile573Phe) c.1621A>T (p.Ile541Phe) c.1591A>T (p.Ile531Phe) c.1516A>T (p.Ile506Phe) c.1414A>T (p.Ile472Phe) c.1045A>T (p.Ile349Phe) | |
| 5 | g.112835102T>A | CA16025462 | APC | c.1560T>A (n.1560T>A) c.1949T>A (p.Ile650Asn) c.*1901T>A (n.*1901T>A) c.1841T>A (p.Ile614Asn) c.1895T>A (p.Ile632Asn) c.248T>A c.584T>A (p.Ile195Asn) c.*1217T>A (n.*1217T>A) c.230+6130T>A c.1925T>A (p.Ile642Asn) c.1820T>A (p.Ile607Asn) c.1811T>A (p.Ile604Asn) c.1772T>A (p.Ile591Asn) c.1718T>A (p.Ile573Asn) c.1622T>A (p.Ile541Asn) c.1592T>A (p.Ile531Asn) c.1517T>A (p.Ile506Asn) c.1415T>A (p.Ile472Asn) c.1046T>A (p.Ile349Asn) | dbSNP |
| 5 | g.112835102T>C | CA006270 | APC | c.1560T>C (n.1560T>C) c.1949T>C (p.Ile650Thr) c.*1901T>C (n.*1901T>C) c.1841T>C (p.Ile614Thr) c.1895T>C (p.Ile632Thr) c.248T>C c.584T>C (p.Ile195Thr) c.*1217T>C (n.*1217T>C) c.230+6130T>C c.1925T>C (p.Ile642Thr) c.1820T>C (p.Ile607Thr) c.1811T>C (p.Ile604Thr) c.1772T>C (p.Ile591Thr) c.1718T>C (p.Ile573Thr) c.1622T>C (p.Ile541Thr) c.1592T>C (p.Ile531Thr) c.1517T>C (p.Ile506Thr) c.1415T>C (p.Ile472Thr) c.1046T>C (p.Ile349Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112835102T>G | CA16025463 | APC | c.1560T>G (n.1560T>G) c.1949T>G (p.Ile650Ser) c.*1901T>G (n.*1901T>G) c.1841T>G (p.Ile614Ser) c.1895T>G (p.Ile632Ser) c.248T>G c.584T>G (p.Ile195Ser) c.*1217T>G (n.*1217T>G) c.230+6130T>G c.1925T>G (p.Ile642Ser) c.1820T>G (p.Ile607Ser) c.1811T>G (p.Ile604Ser) c.1772T>G (p.Ile591Ser) c.1718T>G (p.Ile573Ser) c.1622T>G (p.Ile541Ser) c.1592T>G (p.Ile531Ser) c.1517T>G (p.Ile506Ser) c.1415T>G (p.Ile472Ser) c.1046T>G (p.Ile349Ser) | dbSNP |
| 5 | g.112835102T= | CA1573471332 | APC | c.1560T= (n.1560T=) c.1949T= (p.Ile650=) c.*1901T= (n.*1901T=) c.1841T= (p.Ile614=) c.1895T= (p.Ile632=) c.248T= c.584T= (p.Ile195=) c.*1217T= (n.*1217T=) c.230+6130T= c.1925T= (p.Ile642=) c.1820T= (p.Ile607=) c.1811T= (p.Ile604=) c.1772T= (p.Ile591=) c.1718T= (p.Ile573=) c.1622T= (p.Ile541=) c.1592T= (p.Ile531=) c.1517T= (p.Ile506=) c.1415T= (p.Ile472=) c.1046T= (p.Ile349=) | |
| 5 | g.112835103T>A | CA445758910 | APC | c.1561T>A (n.1561T>A) c.1950T>A (p.Ile650=) c.*1902T>A (n.*1902T>A) c.1842T>A (p.Ile614=) c.1896T>A (p.Ile632=) c.249T>A c.585T>A (p.Ile195=) c.*1218T>A (n.*1218T>A) c.230+6131T>A c.1926T>A (p.Ile642=) c.1821T>A (p.Ile607=) c.1812T>A (p.Ile604=) c.1773T>A (p.Ile591=) c.1719T>A (p.Ile573=) c.1623T>A (p.Ile541=) c.1593T>A (p.Ile531=) c.1518T>A (p.Ile506=) c.1416T>A (p.Ile472=) c.1047T>A (p.Ile349=) | |
| 5 | g.112835103T>C | CA445758911 | APC | c.1561T>C (n.1561T>C) c.1950T>C (p.Ile650=) c.*1902T>C (n.*1902T>C) c.1842T>C (p.Ile614=) c.1896T>C (p.Ile632=) c.249T>C c.585T>C (p.Ile195=) c.*1218T>C (n.*1218T>C) c.230+6131T>C c.1926T>C (p.Ile642=) c.1821T>C (p.Ile607=) c.1812T>C (p.Ile604=) c.1773T>C (p.Ile591=) c.1719T>C (p.Ile573=) c.1623T>C (p.Ile541=) c.1593T>C (p.Ile531=) c.1518T>C (p.Ile506=) c.1416T>C (p.Ile472=) c.1047T>C (p.Ile349=) | |
| 5 | g.112835103T>G | CA16025464 | APC | c.1561T>G (n.1561T>G) c.1950T>G (p.Ile650Met) c.*1902T>G (n.*1902T>G) c.1842T>G (p.Ile614Met) c.1896T>G (p.Ile632Met) c.249T>G c.585T>G (p.Ile195Met) c.*1218T>G (n.*1218T>G) c.230+6131T>G c.1926T>G (p.Ile642Met) c.1821T>G (p.Ile607Met) c.1812T>G (p.Ile604Met) c.1773T>G (p.Ile591Met) c.1719T>G (p.Ile573Met) c.1623T>G (p.Ile541Met) c.1593T>G (p.Ile531Met) c.1518T>G (p.Ile506Met) c.1416T>G (p.Ile472Met) c.1047T>G (p.Ile349Met) | |
| 5 | g.112835104G>A | CA16025465 | APC | c.1562G>A (n.1562G>A) c.1951G>A (p.Glu651Lys) c.*1903G>A (n.*1903G>A) c.1843G>A (p.Glu615Lys) c.1897G>A (p.Glu633Lys) c.250G>A c.586G>A (p.Glu196Lys) c.*1219G>A (n.*1219G>A) c.230+6132G>A c.1927G>A (p.Glu643Lys) c.1822G>A (p.Glu608Lys) c.1813G>A (p.Glu605Lys) c.1774G>A (p.Glu592Lys) c.1720G>A (p.Glu574Lys) c.1624G>A (p.Glu542Lys) c.1594G>A (p.Glu532Lys) c.1519G>A (p.Glu507Lys) c.1417G>A (p.Glu473Lys) c.1048G>A (p.Glu350Lys) | dbSNP |
| 5 | g.112835104G>C | CA16025466 | APC | c.1562G>C (n.1562G>C) c.1951G>C (p.Glu651Gln) c.*1903G>C (n.*1903G>C) c.1843G>C (p.Glu615Gln) c.1897G>C (p.Glu633Gln) c.250G>C c.586G>C (p.Glu196Gln) c.*1219G>C (n.*1219G>C) c.230+6132G>C c.1927G>C (p.Glu643Gln) c.1822G>C (p.Glu608Gln) c.1813G>C (p.Glu605Gln) c.1774G>C (p.Glu592Gln) c.1720G>C (p.Glu574Gln) c.1624G>C (p.Glu542Gln) c.1594G>C (p.Glu532Gln) c.1519G>C (p.Glu507Gln) c.1417G>C (p.Glu473Gln) c.1048G>C (p.Glu350Gln) | dbSNP |
| 5 | g.112835104G= | CA1573471344 | APC | c.1562G= (n.1562G=) c.1951G= (p.Glu651=) c.*1903G= (n.*1903G=) c.1843G= (p.Glu615=) c.1897G= (p.Glu633=) c.250G= c.586G= (p.Glu196=) c.*1219G= (n.*1219G=) c.230+6132G= c.1927G= (p.Glu643=) c.1822G= (p.Glu608=) c.1813G= (p.Glu605=) c.1774G= (p.Glu592=) c.1720G= (p.Glu574=) c.1624G= (p.Glu542=) c.1594G= (p.Glu532=) c.1519G= (p.Glu507=) c.1417G= (p.Glu473=) c.1048G= (p.Glu350=) | |
| 5 | g.112835104G>T | CA16025467 | APC | c.1562G>T (n.1562G>T) c.1951G>T (p.Glu651Ter) c.*1903G>T (n.*1903G>T) c.1843G>T (p.Glu615Ter) c.1897G>T (p.Glu633Ter) c.250G>T c.586G>T (p.Glu196Ter) c.*1219G>T (n.*1219G>T) c.230+6132G>T c.1927G>T (p.Glu643Ter) c.1822G>T (p.Glu608Ter) c.1813G>T (p.Glu605Ter) c.1774G>T (p.Glu592Ter) c.1720G>T (p.Glu574Ter) c.1624G>T (p.Glu542Ter) c.1594G>T (p.Glu532Ter) c.1519G>T (p.Glu507Ter) c.1417G>T (p.Glu473Ter) c.1048G>T (p.Glu350Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112835105A>C | CA16025468 | APC | c.1563A>C (n.1563A>C) c.1952A>C (p.Glu651Ala) c.*1904A>C (n.*1904A>C) c.1844A>C (p.Glu615Ala) c.1898A>C (p.Glu633Ala) c.251A>C c.587A>C (p.Glu196Ala) c.*1220A>C (n.*1220A>C) c.230+6133A>C c.1928A>C (p.Glu643Ala) c.1823A>C (p.Glu608Ala) c.1814A>C (p.Glu605Ala) c.1775A>C (p.Glu592Ala) c.1721A>C (p.Glu574Ala) c.1625A>C (p.Glu542Ala) c.1595A>C (p.Glu532Ala) c.1520A>C (p.Glu507Ala) c.1418A>C (p.Glu473Ala) c.1049A>C (p.Glu350Ala) | |
| 5 | g.112835105A>G | CA16025469 | APC | c.1563A>G (n.1563A>G) c.1952A>G (p.Glu651Gly) c.*1904A>G (n.*1904A>G) c.1844A>G (p.Glu615Gly) c.1898A>G (p.Glu633Gly) c.251A>G c.587A>G (p.Glu196Gly) c.*1220A>G (n.*1220A>G) c.230+6133A>G c.1928A>G (p.Glu643Gly) c.1823A>G (p.Glu608Gly) c.1814A>G (p.Glu605Gly) c.1775A>G (p.Glu592Gly) c.1721A>G (p.Glu574Gly) c.1625A>G (p.Glu542Gly) c.1595A>G (p.Glu532Gly) c.1520A>G (p.Glu507Gly) c.1418A>G (p.Glu473Gly) c.1049A>G (p.Glu350Gly) | |
| 5 | g.112835105A>T | CA16025470 | APC | c.1563A>T (n.1563A>T) c.1952A>T (p.Glu651Val) c.*1904A>T (n.*1904A>T) c.1844A>T (p.Glu615Val) c.1898A>T (p.Glu633Val) c.251A>T c.587A>T (p.Glu196Val) c.*1220A>T (n.*1220A>T) c.230+6133A>T c.1928A>T (p.Glu643Val) c.1823A>T (p.Glu608Val) c.1814A>T (p.Glu605Val) c.1775A>T (p.Glu592Val) c.1721A>T (p.Glu574Val) c.1625A>T (p.Glu542Val) c.1595A>T (p.Glu532Val) c.1520A>T (p.Glu507Val) c.1418A>T (p.Glu473Val) c.1049A>T (p.Glu350Val) |