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.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.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.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) | |
| 5 | g.112835107dup | CA658760617 | APC | c.1565dup (n.1565dup) c.1954dup (p.Ser652LysfsTer17) c.*1906dup (n.*1906dup) c.1846dup (p.Ser616LysfsTer17) c.1900dup (p.Ser634LysfsTer17) c.253dup c.589dup (p.Ser197LysfsTer17) c.*1222dup (n.*1222dup) c.230+6135dup c.1930dup (p.Ser644LysfsTer17) c.1825dup (p.Ser609LysfsTer17) c.1816dup (p.Ser606LysfsTer17) c.1777dup (p.Ser593LysfsTer17) c.1723dup (p.Ser575LysfsTer17) c.1627dup (p.Ser543LysfsTer17) c.1597dup (p.Ser533LysfsTer17) c.1522dup (p.Ser508LysfsTer17) c.1420dup (p.Ser474LysfsTer17) c.1051dup (p.Ser351LysfsTer17) | ClinVar |
| 5 | g.112835106A>C | CA16025471 | APC | c.1564A>C (n.1564A>C) c.1953A>C (p.Glu651Asp) c.*1905A>C (n.*1905A>C) c.1845A>C (p.Glu615Asp) c.1899A>C (p.Glu633Asp) c.252A>C c.588A>C (p.Glu196Asp) c.*1221A>C (n.*1221A>C) c.230+6134A>C c.1929A>C (p.Glu643Asp) c.1824A>C (p.Glu608Asp) c.1815A>C (p.Glu605Asp) c.1776A>C (p.Glu592Asp) c.1722A>C (p.Glu574Asp) c.1626A>C (p.Glu542Asp) c.1596A>C (p.Glu532Asp) c.1521A>C (p.Glu507Asp) c.1419A>C (p.Glu473Asp) c.1050A>C (p.Glu350Asp) | |
| 5 | g.112835106A>G | CA445758912 | APC | c.1564A>G (n.1564A>G) c.1953A>G (p.Glu651=) c.*1905A>G (n.*1905A>G) c.1845A>G (p.Glu615=) c.1899A>G (p.Glu633=) c.252A>G c.588A>G (p.Glu196=) c.*1221A>G (n.*1221A>G) c.230+6134A>G c.1929A>G (p.Glu643=) c.1824A>G (p.Glu608=) c.1815A>G (p.Glu605=) c.1776A>G (p.Glu592=) c.1722A>G (p.Glu574=) c.1626A>G (p.Glu542=) c.1596A>G (p.Glu532=) c.1521A>G (p.Glu507=) c.1419A>G (p.Glu473=) c.1050A>G (p.Glu350=) | dbSNP |
| 5 | g.112835106A>T | CA16025472 | APC | c.1564A>T (n.1564A>T) c.1953A>T (p.Glu651Asp) c.*1905A>T (n.*1905A>T) c.1845A>T (p.Glu615Asp) c.1899A>T (p.Glu633Asp) c.252A>T c.588A>T (p.Glu196Asp) c.*1221A>T (n.*1221A>T) c.230+6134A>T c.1929A>T (p.Glu643Asp) c.1824A>T (p.Glu608Asp) c.1815A>T (p.Glu605Asp) c.1776A>T (p.Glu592Asp) c.1722A>T (p.Glu574Asp) c.1626A>T (p.Glu542Asp) c.1596A>T (p.Glu532Asp) c.1521A>T (p.Glu507Asp) c.1419A>T (p.Glu473Asp) c.1050A>T (p.Glu350Asp) | dbSNP |
| 5 | g.112835107A>C | CA16025473 | APC | c.1565A>C (n.1565A>C) c.1954A>C (p.Ser652Arg) c.*1906A>C (n.*1906A>C) c.1846A>C (p.Ser616Arg) c.1900A>C (p.Ser634Arg) c.253A>C c.589A>C (p.Ser197Arg) c.*1222A>C (n.*1222A>C) c.230+6135A>C c.1930A>C (p.Ser644Arg) c.1825A>C (p.Ser609Arg) c.1816A>C (p.Ser606Arg) c.1777A>C (p.Ser593Arg) c.1723A>C (p.Ser575Arg) c.1627A>C (p.Ser543Arg) c.1597A>C (p.Ser533Arg) c.1522A>C (p.Ser508Arg) c.1420A>C (p.Ser474Arg) c.1051A>C (p.Ser351Arg) | |
| 5 | g.112835107A>G | CA16025474 | APC | c.1565A>G (n.1565A>G) c.1954A>G (p.Ser652Gly) c.*1906A>G (n.*1906A>G) c.1846A>G (p.Ser616Gly) c.1900A>G (p.Ser634Gly) c.253A>G c.589A>G (p.Ser197Gly) c.*1222A>G (n.*1222A>G) c.230+6135A>G c.1930A>G (p.Ser644Gly) c.1825A>G (p.Ser609Gly) c.1816A>G (p.Ser606Gly) c.1777A>G (p.Ser593Gly) c.1723A>G (p.Ser575Gly) c.1627A>G (p.Ser543Gly) c.1597A>G (p.Ser533Gly) c.1522A>G (p.Ser508Gly) c.1420A>G (p.Ser474Gly) c.1051A>G (p.Ser351Gly) | |
| 5 | g.112835107A>T | CA16025475 | APC | c.1565A>T (n.1565A>T) c.1954A>T (p.Ser652Cys) c.*1906A>T (n.*1906A>T) c.1846A>T (p.Ser616Cys) c.1900A>T (p.Ser634Cys) c.253A>T c.589A>T (p.Ser197Cys) c.*1222A>T (n.*1222A>T) c.230+6135A>T c.1930A>T (p.Ser644Cys) c.1825A>T (p.Ser609Cys) c.1816A>T (p.Ser606Cys) c.1777A>T (p.Ser593Cys) c.1723A>T (p.Ser575Cys) c.1627A>T (p.Ser543Cys) c.1597A>T (p.Ser533Cys) c.1522A>T (p.Ser508Cys) c.1420A>T (p.Ser474Cys) c.1051A>T (p.Ser351Cys) | |
| 5 | g.112835108G>A | CA16025476 | APC | c.1566G>A (n.1566G>A) c.1955G>A (p.Ser652Asn) c.*1907G>A (n.*1907G>A) c.1847G>A (p.Ser616Asn) c.1901G>A (p.Ser634Asn) c.254G>A c.590G>A (p.Ser197Asn) c.*1223G>A (n.*1223G>A) c.230+6136G>A c.1931G>A (p.Ser644Asn) c.1826G>A (p.Ser609Asn) c.1817G>A (p.Ser606Asn) c.1778G>A (p.Ser593Asn) c.1724G>A (p.Ser575Asn) c.1628G>A (p.Ser543Asn) c.1598G>A (p.Ser533Asn) c.1523G>A (p.Ser508Asn) c.1421G>A (p.Ser474Asn) c.1052G>A (p.Ser351Asn) | dbSNP |
| 5 | g.112835108G>C | CA16025477 | APC | c.1566G>C (n.1566G>C) c.1955G>C (p.Ser652Thr) c.*1907G>C (n.*1907G>C) c.1847G>C (p.Ser616Thr) c.1901G>C (p.Ser634Thr) c.254G>C c.590G>C (p.Ser197Thr) c.*1223G>C (n.*1223G>C) c.230+6136G>C c.1931G>C (p.Ser644Thr) c.1826G>C (p.Ser609Thr) c.1817G>C (p.Ser606Thr) c.1778G>C (p.Ser593Thr) c.1724G>C (p.Ser575Thr) c.1628G>C (p.Ser543Thr) c.1598G>C (p.Ser533Thr) c.1523G>C (p.Ser508Thr) c.1421G>C (p.Ser474Thr) c.1052G>C (p.Ser351Thr) | dbSNP |
| 5 | g.112835108G>T | CA16025478 | APC | c.1566G>T (n.1566G>T) c.1955G>T (p.Ser652Ile) c.*1907G>T (n.*1907G>T) c.1847G>T (p.Ser616Ile) c.1901G>T (p.Ser634Ile) c.254G>T c.590G>T (p.Ser197Ile) c.*1223G>T (n.*1223G>T) c.230+6136G>T c.1931G>T (p.Ser644Ile) c.1826G>T (p.Ser609Ile) c.1817G>T (p.Ser606Ile) c.1778G>T (p.Ser593Ile) c.1724G>T (p.Ser575Ile) c.1628G>T (p.Ser543Ile) c.1598G>T (p.Ser533Ile) c.1523G>T (p.Ser508Ile) c.1421G>T (p.Ser474Ile) c.1052G>T (p.Ser351Ile) | dbSNP |
| 5 | g.112835109T>A | CA16025479 | APC | c.1567T>A (n.1567T>A) c.1956T>A (p.Ser652Arg) c.*1908T>A (n.*1908T>A) c.1848T>A (p.Ser616Arg) c.1902T>A (p.Ser634Arg) c.255T>A c.591T>A (p.Ser197Arg) c.*1224T>A (n.*1224T>A) c.230+6137T>A c.1932T>A (p.Ser644Arg) c.1827T>A (p.Ser609Arg) c.1818T>A (p.Ser606Arg) c.1779T>A (p.Ser593Arg) c.1725T>A (p.Ser575Arg) c.1629T>A (p.Ser543Arg) c.1599T>A (p.Ser533Arg) c.1524T>A (p.Ser508Arg) c.1422T>A (p.Ser474Arg) c.1053T>A (p.Ser351Arg) | |
| 5 | g.112835109T>C | CA445758913 | APC | c.1567T>C (n.1567T>C) c.1956T>C (p.Ser652=) c.*1908T>C (n.*1908T>C) c.1848T>C (p.Ser616=) c.1902T>C (p.Ser634=) c.255T>C c.591T>C (p.Ser197=) c.*1224T>C (n.*1224T>C) c.230+6137T>C c.1932T>C (p.Ser644=) c.1827T>C (p.Ser609=) c.1818T>C (p.Ser606=) c.1779T>C (p.Ser593=) c.1725T>C (p.Ser575=) c.1629T>C (p.Ser543=) c.1599T>C (p.Ser533=) c.1524T>C (p.Ser508=) c.1422T>C (p.Ser474=) c.1053T>C (p.Ser351=) | gnomAD v4 |
| 5 | g.112835109T>G | CA10578330 | APC | c.1567T>G (n.1567T>G) c.1956T>G (p.Ser652Arg) c.*1908T>G (n.*1908T>G) c.1848T>G (p.Ser616Arg) c.1902T>G (p.Ser634Arg) c.255T>G c.591T>G (p.Ser197Arg) c.*1224T>G (n.*1224T>G) c.230+6137T>G c.1932T>G (p.Ser644Arg) c.1827T>G (p.Ser609Arg) c.1818T>G (p.Ser606Arg) c.1779T>G (p.Ser593Arg) c.1725T>G (p.Ser575Arg) c.1629T>G (p.Ser543Arg) c.1599T>G (p.Ser533Arg) c.1524T>G (p.Ser508Arg) c.1422T>G (p.Ser474Arg) c.1053T>G (p.Ser351Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112835109T= | CA1573471357 | APC | c.1567T= (n.1567T=) c.1956T= (p.Ser652=) c.*1908T= (n.*1908T=) c.1848T= (p.Ser616=) c.1902T= (p.Ser634=) c.255T= c.591T= (p.Ser197=) c.*1224T= (n.*1224T=) c.230+6137T= c.1932T= (p.Ser644=) c.1827T= (p.Ser609=) c.1818T= (p.Ser606=) c.1779T= (p.Ser593=) c.1725T= (p.Ser575=) c.1629T= (p.Ser543=) c.1599T= (p.Ser533=) c.1524T= (p.Ser508=) c.1422T= (p.Ser474=) c.1053T= (p.Ser351=) | |
| 5 | g.112835110G>A | CA16025480 | APC | c.1568G>A (n.1568G>A) c.1957G>A (p.Gly653Arg) c.*1909G>A (n.*1909G>A) c.1849G>A (p.Gly617Arg) c.1903G>A (p.Gly635Arg) c.256G>A c.592G>A (p.Gly198Arg) c.*1225G>A (n.*1225G>A) c.230+6138G>A c.1933G>A (p.Gly645Arg) c.1828G>A (p.Gly610Arg) c.1819G>A (p.Gly607Arg) c.1780G>A (p.Gly594Arg) c.1726G>A (p.Gly576Arg) c.1630G>A (p.Gly544Arg) c.1600G>A (p.Gly534Arg) c.1525G>A (p.Gly509Arg) c.1423G>A (p.Gly475Arg) c.1054G>A (p.Gly352Arg) | ClinVar dbSNP |
| 5 | g.112835110G>C | CA16025481 | APC | c.1568G>C (n.1568G>C) c.1957G>C (p.Gly653Arg) c.*1909G>C (n.*1909G>C) c.1849G>C (p.Gly617Arg) c.1903G>C (p.Gly635Arg) c.256G>C c.592G>C (p.Gly198Arg) c.*1225G>C (n.*1225G>C) c.230+6138G>C c.1933G>C (p.Gly645Arg) c.1828G>C (p.Gly610Arg) c.1819G>C (p.Gly607Arg) c.1780G>C (p.Gly594Arg) c.1726G>C (p.Gly576Arg) c.1630G>C (p.Gly544Arg) c.1600G>C (p.Gly534Arg) c.1525G>C (p.Gly509Arg) c.1423G>C (p.Gly475Arg) c.1054G>C (p.Gly352Arg) | dbSNP |
| 5 | g.112835110G= | CA1573471368 | APC | c.1568G= (n.1568G=) c.1957G= (p.Gly653=) c.*1909G= (n.*1909G=) c.1849G= (p.Gly617=) c.1903G= (p.Gly635=) c.256G= c.592G= (p.Gly198=) c.*1225G= (n.*1225G=) c.230+6138G= c.1933G= (p.Gly645=) c.1828G= (p.Gly610=) c.1819G= (p.Gly607=) c.1780G= (p.Gly594=) c.1726G= (p.Gly576=) c.1630G= (p.Gly544=) c.1600G= (p.Gly534=) c.1525G= (p.Gly509=) c.1423G= (p.Gly475=) c.1054G= (p.Gly352=) | |
| 5 | g.112835110G>T | CA16025482 | APC | c.1568G>T (n.1568G>T) c.1957G>T (p.Gly653Ter) c.*1909G>T (n.*1909G>T) c.1849G>T (p.Gly617Ter) c.1903G>T (p.Gly635Ter) c.256G>T c.592G>T (p.Gly198Ter) c.*1225G>T (n.*1225G>T) c.230+6138G>T c.1933G>T (p.Gly645Ter) c.1828G>T (p.Gly610Ter) c.1819G>T (p.Gly607Ter) c.1780G>T (p.Gly594Ter) c.1726G>T (p.Gly576Ter) c.1630G>T (p.Gly544Ter) c.1600G>T (p.Gly534Ter) c.1525G>T (p.Gly509Ter) c.1423G>T (p.Gly475Ter) c.1054G>T (p.Gly352Ter) | ClinVar dbSNP |
| 5 | g.112835111G>A | CA16025483 | APC | c.1569G>A (n.1569G>A) c.1958G>A (p.Gly653Glu) c.*1910G>A (n.*1910G>A) c.1850G>A (p.Gly617Glu) c.1904G>A (p.Gly635Glu) c.257G>A c.593G>A (p.Gly198Glu) c.*1226G>A (n.*1226G>A) c.230+6139G>A c.1934G>A (p.Gly645Glu) c.1829G>A (p.Gly610Glu) c.1820G>A (p.Gly607Glu) c.1781G>A (p.Gly594Glu) c.1727G>A (p.Gly576Glu) c.1631G>A (p.Gly544Glu) c.1601G>A (p.Gly534Glu) c.1526G>A (p.Gly509Glu) c.1424G>A (p.Gly475Glu) c.1055G>A (p.Gly352Glu) | ClinVar dbSNP |
| 5 | g.112835111G>C | CA006287 | APC | c.1569G>C (n.1569G>C) c.1958G>C (p.Gly653Ala) c.*1910G>C (n.*1910G>C) c.1850G>C (p.Gly617Ala) c.1904G>C (p.Gly635Ala) c.257G>C c.593G>C (p.Gly198Ala) c.*1226G>C (n.*1226G>C) c.230+6139G>C c.1934G>C (p.Gly645Ala) c.1829G>C (p.Gly610Ala) c.1820G>C (p.Gly607Ala) c.1781G>C (p.Gly594Ala) c.1727G>C (p.Gly576Ala) c.1631G>C (p.Gly544Ala) c.1601G>C (p.Gly534Ala) c.1526G>C (p.Gly509Ala) c.1424G>C (p.Gly475Ala) c.1055G>C (p.Gly352Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112835111G= | CA1573471375 | APC | c.1569G= (n.1569G=) c.1958G= (p.Gly653=) c.*1910G= (n.*1910G=) c.1850G= (p.Gly617=) c.1904G= (p.Gly635=) c.257G= c.593G= (p.Gly198=) c.*1226G= (n.*1226G=) c.230+6139G= c.1934G= (p.Gly645=) c.1829G= (p.Gly610=) c.1820G= (p.Gly607=) c.1781G= (p.Gly594=) c.1727G= (p.Gly576=) c.1631G= (p.Gly544=) c.1601G= (p.Gly534=) c.1526G= (p.Gly509=) c.1424G= (p.Gly475=) c.1055G= (p.Gly352=) | |
| 5 | g.112835111G>T | CA16025484 | APC | c.1569G>T (n.1569G>T) c.1958G>T (p.Gly653Val) c.*1910G>T (n.*1910G>T) c.1850G>T (p.Gly617Val) c.1904G>T (p.Gly635Val) c.257G>T c.593G>T (p.Gly198Val) c.*1226G>T (n.*1226G>T) c.230+6139G>T c.1934G>T (p.Gly645Val) c.1829G>T (p.Gly610Val) c.1820G>T (p.Gly607Val) c.1781G>T (p.Gly594Val) c.1727G>T (p.Gly576Val) c.1631G>T (p.Gly544Val) c.1601G>T (p.Gly534Val) c.1526G>T (p.Gly509Val) c.1424G>T (p.Gly475Val) c.1055G>T (p.Gly352Val) | dbSNP |
| 5 | g.112835112A= | CA1573471383 | APC | c.1570A= (n.1570A=) c.1959A= (p.Gly653=) c.*1911A= (n.*1911A=) c.1851A= (p.Gly617=) c.1905A= (p.Gly635=) c.258A= c.594A= (p.Gly198=) c.*1227A= (n.*1227A=) c.230+6140A= c.1935A= (p.Gly645=) c.1830A= (p.Gly610=) c.1821A= (p.Gly607=) c.1782A= (p.Gly594=) c.1728A= (p.Gly576=) c.1632A= (p.Gly544=) c.1602A= (p.Gly534=) c.1527A= (p.Gly509=) c.1425A= (p.Gly475=) c.1056A= (p.Gly352=) | |
| 5 | g.112835112A>C | CA445758914 | APC | c.1570A>C (n.1570A>C) c.1959A>C (p.Gly653=) c.*1911A>C (n.*1911A>C) c.1851A>C (p.Gly617=) c.1905A>C (p.Gly635=) c.258A>C c.594A>C (p.Gly198=) c.*1227A>C (n.*1227A>C) c.230+6140A>C c.1935A>C (p.Gly645=) c.1830A>C (p.Gly610=) c.1821A>C (p.Gly607=) c.1782A>C (p.Gly594=) c.1728A>C (p.Gly576=) c.1632A>C (p.Gly544=) c.1602A>C (p.Gly534=) c.1527A>C (p.Gly509=) c.1425A>C (p.Gly475=) c.1056A>C (p.Gly352=) | ClinVar |
| 5 | g.112835112A>G | CA445758915 | APC | c.1570A>G (n.1570A>G) c.1959A>G (p.Gly653=) c.*1911A>G (n.*1911A>G) c.1851A>G (p.Gly617=) c.1905A>G (p.Gly635=) c.258A>G c.594A>G (p.Gly198=) c.*1227A>G (n.*1227A>G) c.230+6140A>G c.1935A>G (p.Gly645=) c.1830A>G (p.Gly610=) c.1821A>G (p.Gly607=) c.1782A>G (p.Gly594=) c.1728A>G (p.Gly576=) c.1632A>G (p.Gly544=) c.1602A>G (p.Gly534=) c.1527A>G (p.Gly509=) c.1425A>G (p.Gly475=) c.1056A>G (p.Gly352=) | ClinVar dbSNP |
| 5 | g.112835112A>T | CA445758916 | APC | c.1570A>T (n.1570A>T) c.1959A>T (p.Gly653=) c.*1911A>T (n.*1911A>T) c.1851A>T (p.Gly617=) c.1905A>T (p.Gly635=) c.258A>T c.594A>T (p.Gly198=) c.*1227A>T (n.*1227A>T) c.230+6140A>T c.1935A>T (p.Gly645=) c.1830A>T (p.Gly610=) c.1821A>T (p.Gly607=) c.1782A>T (p.Gly594=) c.1728A>T (p.Gly576=) c.1632A>T (p.Gly544=) c.1602A>T (p.Gly534=) c.1527A>T (p.Gly509=) c.1425A>T (p.Gly475=) c.1056A>T (p.Gly352=) | dbSNP |
| 5 | g.112835113G>A | CA16025485 | APC | c.1571G>A (n.1571G>A) c.1960G>A (p.Gly654Ser) c.*1912G>A (n.*1912G>A) c.1852G>A (p.Gly618Ser) c.1906G>A (p.Gly636Ser) c.259G>A c.595G>A (p.Gly199Ser) c.*1228G>A (n.*1228G>A) c.230+6141G>A c.1936G>A (p.Gly646Ser) c.1831G>A (p.Gly611Ser) c.1822G>A (p.Gly608Ser) c.1783G>A (p.Gly595Ser) c.1729G>A (p.Gly577Ser) c.1633G>A (p.Gly545Ser) c.1603G>A (p.Gly535Ser) c.1528G>A (p.Gly510Ser) c.1426G>A (p.Gly476Ser) c.1057G>A (p.Gly353Ser) | ClinVar dbSNP |
| 5 | g.112835113G>C | CA16025486 | APC | c.1571G>C (n.1571G>C) c.1960G>C (p.Gly654Arg) c.*1912G>C (n.*1912G>C) c.1852G>C (p.Gly618Arg) c.1906G>C (p.Gly636Arg) c.259G>C c.595G>C (p.Gly199Arg) c.*1228G>C (n.*1228G>C) c.230+6141G>C c.1936G>C (p.Gly646Arg) c.1831G>C (p.Gly611Arg) c.1822G>C (p.Gly608Arg) c.1783G>C (p.Gly595Arg) c.1729G>C (p.Gly577Arg) c.1633G>C (p.Gly545Arg) c.1603G>C (p.Gly535Arg) c.1528G>C (p.Gly510Arg) c.1426G>C (p.Gly476Arg) c.1057G>C (p.Gly353Arg) | dbSNP |
| 5 | g.112835113G= | CA1139532121 | APC | c.1571G= (n.1571G=) c.1960G= (p.Gly654=) c.*1912G= (n.*1912G=) c.1852G= (p.Gly618=) c.1906G= (p.Gly636=) c.259G= c.595G= (p.Gly199=) c.*1228G= (n.*1228G=) c.230+6141G= c.1936G= (p.Gly646=) c.1831G= (p.Gly611=) c.1822G= (p.Gly608=) c.1783G= (p.Gly595=) c.1729G= (p.Gly577=) c.1633G= (p.Gly545=) c.1603G= (p.Gly535=) c.1528G= (p.Gly510=) c.1426G= (p.Gly476=) c.1057G= (p.Gly353=) | |
| 5 | g.112835113G>T | CA16025487 | APC | c.1571G>T (n.1571G>T) c.1960G>T (p.Gly654Cys) c.*1912G>T (n.*1912G>T) c.1852G>T (p.Gly618Cys) c.1906G>T (p.Gly636Cys) c.259G>T c.595G>T (p.Gly199Cys) c.*1228G>T (n.*1228G>T) c.230+6141G>T c.1936G>T (p.Gly646Cys) c.1831G>T (p.Gly611Cys) c.1822G>T (p.Gly608Cys) c.1783G>T (p.Gly595Cys) c.1729G>T (p.Gly577Cys) c.1633G>T (p.Gly545Cys) c.1603G>T (p.Gly535Cys) c.1528G>T (p.Gly510Cys) c.1426G>T (p.Gly476Cys) c.1057G>T (p.Gly353Cys) | |
| 5 | g.112835114dup | CA658760620 | APC | c.1572dup (n.1572dup) c.1961dup (p.Gly655TrpfsTer14) c.*1913dup (n.*1913dup) c.1853dup (p.Gly619TrpfsTer14) c.1907dup (p.Gly637TrpfsTer14) c.260dup c.596dup (p.Gly200TrpfsTer14) c.*1229dup (n.*1229dup) c.230+6142dup c.1937dup (p.Gly647TrpfsTer14) c.1832dup (p.Gly612TrpfsTer14) c.1823dup (p.Gly609TrpfsTer14) c.1784dup (p.Gly596TrpfsTer14) c.1730dup (p.Gly578TrpfsTer14) c.1634dup (p.Gly546TrpfsTer14) c.1604dup (p.Gly536TrpfsTer14) c.1529dup (p.Gly511TrpfsTer14) c.1427dup (p.Gly477TrpfsTer14) c.1058dup (p.Gly354TrpfsTer14) | ClinVar |
| 5 | g.112835113_112835114dup | CA1139771885 | APC | c.1571_1572dup (n.1571_1572dup) c.1960_1961dup (p.Gly655ValfsTer10) c.*1912_*1913dup (n.*1912_*1913dup) c.1852_1853dup (p.Gly619ValfsTer10) c.1906_1907dup (p.Gly637ValfsTer10) c.259_260dup c.595_596dup (p.Gly200ValfsTer10) c.*1228_*1229dup (n.*1228_*1229dup) c.230+6141_230+6142dup c.1936_1937dup (p.Gly647ValfsTer10) c.1831_1832dup (p.Gly612ValfsTer10) c.1822_1823dup (p.Gly609ValfsTer10) c.1783_1784dup (p.Gly596ValfsTer10) c.1729_1730dup (p.Gly578ValfsTer10) c.1633_1634dup (p.Gly546ValfsTer10) c.1603_1604dup (p.Gly536ValfsTer10) c.1528_1529dup (p.Gly511ValfsTer10) c.1426_1427dup (p.Gly477ValfsTer10) c.1057_1058dup (p.Gly354ValfsTer10) | |
| 5 | g.112835114del | CA658760621 | APC | c.1572del (n.1572del) c.1961del (p.Gly654ValfsTer10) c.*1913del (n.*1913del) c.1853del (p.Gly618ValfsTer10) c.1907del (p.Gly636ValfsTer10) c.260del c.596del (p.Gly199ValfsTer10) c.*1229del (n.*1229del) c.230+6142del c.1937del (p.Gly646ValfsTer10) c.1832del (p.Gly611ValfsTer10) c.1823del (p.Gly608ValfsTer10) c.1784del (p.Gly595ValfsTer10) c.1730del (p.Gly577ValfsTer10) c.1634del (p.Gly545ValfsTer10) c.1604del (p.Gly535ValfsTer10) c.1529del (p.Gly510ValfsTer10) c.1427del (p.Gly476ValfsTer10) c.1058del (p.Gly353ValfsTer10) | |
| 5 | g.112835114G>A | CA16025488 | APC | c.1572G>A (n.1572G>A) c.1961G>A (p.Gly654Asp) c.*1913G>A (n.*1913G>A) c.1853G>A (p.Gly618Asp) c.1907G>A (p.Gly636Asp) c.260G>A c.596G>A (p.Gly199Asp) c.*1229G>A (n.*1229G>A) c.230+6142G>A c.1937G>A (p.Gly646Asp) c.1832G>A (p.Gly611Asp) c.1823G>A (p.Gly608Asp) c.1784G>A (p.Gly595Asp) c.1730G>A (p.Gly577Asp) c.1634G>A (p.Gly545Asp) c.1604G>A (p.Gly535Asp) c.1529G>A (p.Gly510Asp) c.1427G>A (p.Gly476Asp) c.1058G>A (p.Gly353Asp) | ClinVar dbSNP COSMIC |
| 5 | g.112835114G>C | CA16025489 | APC | c.1572G>C (n.1572G>C) c.1961G>C (p.Gly654Ala) c.*1913G>C (n.*1913G>C) c.1853G>C (p.Gly618Ala) c.1907G>C (p.Gly636Ala) c.260G>C c.596G>C (p.Gly199Ala) c.*1229G>C (n.*1229G>C) c.230+6142G>C c.1937G>C (p.Gly646Ala) c.1832G>C (p.Gly611Ala) c.1823G>C (p.Gly608Ala) c.1784G>C (p.Gly595Ala) c.1730G>C (p.Gly577Ala) c.1634G>C (p.Gly545Ala) c.1604G>C (p.Gly535Ala) c.1529G>C (p.Gly510Ala) c.1427G>C (p.Gly476Ala) c.1058G>C (p.Gly353Ala) | dbSNP |
| 5 | g.112835114G>T | CA16025490 | APC | c.1572G>T (n.1572G>T) c.1961G>T (p.Gly654Val) c.*1913G>T (n.*1913G>T) c.1853G>T (p.Gly618Val) c.1907G>T (p.Gly636Val) c.260G>T c.596G>T (p.Gly199Val) c.*1229G>T (n.*1229G>T) c.230+6142G>T c.1937G>T (p.Gly646Val) c.1832G>T (p.Gly611Val) c.1823G>T (p.Gly608Val) c.1784G>T (p.Gly595Val) c.1730G>T (p.Gly577Val) c.1634G>T (p.Gly545Val) c.1604G>T (p.Gly535Val) c.1529G>T (p.Gly510Val) c.1427G>T (p.Gly476Val) c.1058G>T (p.Gly353Val) | dbSNP |
| 5 | g.112835115_112835116dup | CA1573471390 | APC | c.1573_1574dup (n.1573_1574dup) c.1962_1963dup (p.Gly655ValfsTer10) c.*1914_*1915dup (n.*1914_*1915dup) c.1854_1855dup (p.Gly619ValfsTer10) c.1908_1909dup (p.Gly637ValfsTer10) c.261_262dup c.597_598dup (p.Gly200ValfsTer10) c.*1230_*1231dup (n.*1230_*1231dup) c.230+6143_230+6144dup c.1938_1939dup (p.Gly647ValfsTer10) c.1833_1834dup (p.Gly612ValfsTer10) c.1824_1825dup (p.Gly609ValfsTer10) c.1785_1786dup (p.Gly596ValfsTer10) c.1731_1732dup (p.Gly578ValfsTer10) c.1635_1636dup (p.Gly546ValfsTer10) c.1605_1606dup (p.Gly536ValfsTer10) c.1530_1531dup (p.Gly511ValfsTer10) c.1428_1429dup (p.Gly477ValfsTer10) c.1059_1060dup (p.Gly354ValfsTer10) | ClinVar dbSNP |
| 5 | g.112835115T>A | CA445758917 | APC | c.1573T>A (n.1573T>A) c.1962T>A (p.Gly654=) c.*1914T>A (n.*1914T>A) c.1854T>A (p.Gly618=) c.1908T>A (p.Gly636=) c.261T>A c.597T>A (p.Gly199=) c.*1230T>A (n.*1230T>A) c.230+6143T>A c.1938T>A (p.Gly646=) c.1833T>A (p.Gly611=) c.1824T>A (p.Gly608=) c.1785T>A (p.Gly595=) c.1731T>A (p.Gly577=) c.1635T>A (p.Gly545=) c.1605T>A (p.Gly535=) c.1530T>A (p.Gly510=) c.1428T>A (p.Gly476=) c.1059T>A (p.Gly353=) | |
| 5 | g.112835115T>C | CA006295 | APC | c.1573T>C (n.1573T>C) c.1962T>C (p.Gly654=) c.*1914T>C (n.*1914T>C) c.1854T>C (p.Gly618=) c.1908T>C (p.Gly636=) c.261T>C c.597T>C (p.Gly199=) c.*1230T>C (n.*1230T>C) c.230+6143T>C c.1938T>C (p.Gly646=) c.1833T>C (p.Gly611=) c.1824T>C (p.Gly608=) c.1785T>C (p.Gly595=) c.1731T>C (p.Gly577=) c.1635T>C (p.Gly545=) c.1605T>C (p.Gly535=) c.1530T>C (p.Gly510=) c.1428T>C (p.Gly476=) c.1059T>C (p.Gly353=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112835115T>G | CA006300 | APC | c.1573T>G (n.1573T>G) c.1962T>G (p.Gly654=) c.*1914T>G (n.*1914T>G) c.1854T>G (p.Gly618=) c.1908T>G (p.Gly636=) c.261T>G c.597T>G (p.Gly199=) c.*1230T>G (n.*1230T>G) c.230+6143T>G c.1938T>G (p.Gly646=) c.1833T>G (p.Gly611=) c.1824T>G (p.Gly608=) c.1785T>G (p.Gly595=) c.1731T>G (p.Gly577=) c.1635T>G (p.Gly545=) c.1605T>G (p.Gly535=) c.1530T>G (p.Gly510=) c.1428T>G (p.Gly476=) c.1059T>G (p.Gly353=) | ClinVar dbSNP |
| 5 | g.112835115T= | CA1573471401 | APC | c.1573T= (n.1573T=) c.1962T= (p.Gly654=) c.*1914T= (n.*1914T=) c.1854T= (p.Gly618=) c.1908T= (p.Gly636=) c.261T= c.597T= (p.Gly199=) c.*1230T= (n.*1230T=) c.230+6143T= c.1938T= (p.Gly646=) c.1833T= (p.Gly611=) c.1824T= (p.Gly608=) c.1785T= (p.Gly595=) c.1731T= (p.Gly577=) c.1635T= (p.Gly545=) c.1605T= (p.Gly535=) c.1530T= (p.Gly510=) c.1428T= (p.Gly476=) c.1059T= (p.Gly353=) |