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.112835058_112835074delinsTGGCACTCTTACTTACC | CA1573470948 | APC | c.1516_1532delinsTGGCACTCTTACTTACC (n.1516_1532delinsTGGCACTCTTACTTACC) c.1905_1921delinsTGGCACTCTTACTTACC (p.Val635=) c.*1857_*1873delinsTGGCACTCTTACTTACC (n.*1857_*1873delinsTGGCACTCTTACTTACC) c.1797_1813delinsTGGCACTCTTACTTACC (p.Val599=) c.1851_1867delinsTGGCACTCTTACTTACC (p.Val617=) c.204_220delinsTGGCACTCTTACTTACC c.540_556delinsTGGCACTCTTACTTACC (p.Val180=) c.*1173_*1189delinsTGGCACTCTTACTTACC (n.*1173_*1189delinsTGGCACTCTTACTTACC) c.230+6086_230+6102delinsTGGCACTCTTACTTACC c.1881_1897delinsTGGCACTCTTACTTACC (p.Val627=) c.1776_1792delinsTGGCACTCTTACTTACC (p.Val592=) c.1767_1783delinsTGGCACTCTTACTTACC (p.Val589=) c.1728_1744delinsTGGCACTCTTACTTACC (p.Val576=) c.1674_1690delinsTGGCACTCTTACTTACC (p.Val558=) c.1578_1594delinsTGGCACTCTTACTTACC (p.Val526=) c.1548_1564delinsTGGCACTCTTACTTACC (p.Val516=) c.1473_1489delinsTGGCACTCTTACTTACC (p.Val491=) c.1371_1387delinsTGGCACTCTTACTTACC (p.Val457=) c.1002_1018delinsTGGCACTCTTACTTACC (p.Val334=) | |
| 5 | g.112835061_112835076del | CA658760587 | APC | c.1519_1534del (n.1519_1534del) c.1908_1923del (p.Thr637AlafsTer6) c.*1860_*1875del (n.*1860_*1875del) c.1800_1815del (p.Thr601AlafsTer6) c.1854_1869del (p.Thr619AlafsTer6) c.207_222del c.543_558del (p.Thr182AlafsTer6) c.*1176_*1191del (n.*1176_*1191del) c.230+6089_230+6104del c.1884_1899del (p.Thr629AlafsTer6) c.1779_1794del (p.Thr594AlafsTer6) c.1770_1785del (p.Thr591AlafsTer6) c.1731_1746del (p.Thr578AlafsTer6) c.1677_1692del (p.Thr560AlafsTer6) c.1581_1596del (p.Thr528AlafsTer6) c.1551_1566del (p.Thr518AlafsTer6) c.1476_1491del (p.Thr493AlafsTer6) c.1374_1389del (p.Thr459AlafsTer6) c.1005_1020del (p.Thr336AlafsTer6) | ClinVar dbSNP |
| 5 | g.112835070_112835073dup | CA658760592 | APC | c.1528_1531dup (n.1528_1531dup) c.1917_1920dup (p.Arg641LeufsTer12) c.*1869_*1872dup (n.*1869_*1872dup) c.1809_1812dup (p.Arg605LeufsTer12) c.1863_1866dup (p.Arg623LeufsTer12) c.216_219dup c.552_555dup (p.Arg186LeufsTer12) c.*1185_*1188dup (n.*1185_*1188dup) c.230+6098_230+6101dup c.1893_1896dup (p.Arg633LeufsTer12) c.1788_1791dup (p.Arg598LeufsTer12) c.1779_1782dup (p.Arg595LeufsTer12) c.1740_1743dup (p.Arg582LeufsTer12) c.1686_1689dup (p.Arg564LeufsTer12) c.1590_1593dup (p.Arg532LeufsTer12) c.1560_1563dup (p.Arg522LeufsTer12) c.1485_1488dup (p.Arg497LeufsTer12) c.1383_1386dup (p.Arg463LeufsTer12) c.1014_1017dup (p.Arg340LeufsTer12) | |
| 5 | g.112835070_112835073del | CA645562817 | APC | c.1528_1531del (n.1528_1531del) c.1917_1920del (p.Tyr640GlyfsTer7) c.*1869_*1872del (n.*1869_*1872del) c.1809_1812del (p.Tyr604GlyfsTer7) c.1863_1866del (p.Tyr622GlyfsTer7) c.216_219del c.552_555del (p.Tyr185GlyfsTer7) c.*1185_*1188del (n.*1185_*1188del) c.230+6098_230+6101del c.1893_1896del (p.Tyr632GlyfsTer7) c.1788_1791del (p.Tyr597GlyfsTer7) c.1779_1782del (p.Tyr594GlyfsTer7) c.1740_1743del (p.Tyr581GlyfsTer7) c.1686_1689del (p.Tyr563GlyfsTer7) c.1590_1593del (p.Tyr531GlyfsTer7) c.1560_1563del (p.Tyr521GlyfsTer7) c.1485_1488del (p.Tyr496GlyfsTer7) c.1383_1386del (p.Tyr462GlyfsTer7) c.1014_1017del (p.Tyr339GlyfsTer7) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.112835073_112835077del | CA2695205047 | APC | c.1531_1535del (n.1531_1535del) c.1920_1924del (p.Tyr640Ter) c.*1872_*1876del (n.*1872_*1876del) c.1812_1816del (p.Tyr604Ter) c.1866_1870del (p.Tyr622Ter) c.219_223del c.555_559del (p.Tyr185Ter) c.*1188_*1192del (n.*1188_*1192del) c.230+6101_230+6105del c.1896_1900del (p.Tyr632Ter) c.1791_1795del (p.Tyr597Ter) c.1782_1786del (p.Tyr594Ter) c.1743_1747del (p.Tyr581Ter) c.1689_1693del (p.Tyr563Ter) c.1593_1597del (p.Tyr531Ter) c.1563_1567del (p.Tyr521Ter) c.1488_1492del (p.Tyr496Ter) c.1386_1390del (p.Tyr462Ter) c.1017_1021del (p.Tyr339Ter) | |
| 5 | g.112835073C>A | CA10578327 | APC | c.1531C>A (n.1531C>A) c.1920C>A (p.Tyr640Ter) c.*1872C>A (n.*1872C>A) c.1812C>A (p.Tyr604Ter) c.1866C>A (p.Tyr622Ter) c.219C>A c.555C>A (p.Tyr185Ter) c.*1188C>A (n.*1188C>A) c.230+6101C>A c.1896C>A (p.Tyr632Ter) c.1791C>A (p.Tyr597Ter) c.1782C>A (p.Tyr594Ter) c.1743C>A (p.Tyr581Ter) c.1689C>A (p.Tyr563Ter) c.1593C>A (p.Tyr531Ter) c.1563C>A (p.Tyr521Ter) c.1488C>A (p.Tyr496Ter) c.1386C>A (p.Tyr462Ter) c.1017C>A (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073C= | CA1573471079 | APC | c.1531C= (n.1531C=) c.1920C= (p.Tyr640=) c.*1872C= (n.*1872C=) c.1812C= (p.Tyr604=) c.1866C= (p.Tyr622=) c.219C= c.555C= (p.Tyr185=) c.*1188C= (n.*1188C=) c.230+6101C= c.1896C= (p.Tyr632=) c.1791C= (p.Tyr597=) c.1782C= (p.Tyr594=) c.1743C= (p.Tyr581=) c.1689C= (p.Tyr563=) c.1593C= (p.Tyr531=) c.1563C= (p.Tyr521=) c.1488C= (p.Tyr496=) c.1386C= (p.Tyr462=) c.1017C= (p.Tyr339=) | |
| 5 | g.112835073C>G | CA16025402 | APC | c.1531C>G (n.1531C>G) c.1920C>G (p.Tyr640Ter) c.*1872C>G (n.*1872C>G) c.1812C>G (p.Tyr604Ter) c.1866C>G (p.Tyr622Ter) c.219C>G c.555C>G (p.Tyr185Ter) c.*1188C>G (n.*1188C>G) c.230+6101C>G c.1896C>G (p.Tyr632Ter) c.1791C>G (p.Tyr597Ter) c.1782C>G (p.Tyr594Ter) c.1743C>G (p.Tyr581Ter) c.1689C>G (p.Tyr563Ter) c.1593C>G (p.Tyr531Ter) c.1563C>G (p.Tyr521Ter) c.1488C>G (p.Tyr496Ter) c.1386C>G (p.Tyr462Ter) c.1017C>G (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073C>T | CA10578328 | APC | c.1531C>T (n.1531C>T) c.1920C>T (p.Tyr640=) c.*1872C>T (n.*1872C>T) c.1812C>T (p.Tyr604=) c.1866C>T (p.Tyr622=) c.219C>T c.555C>T (p.Tyr185=) c.*1188C>T (n.*1188C>T) c.230+6101C>T c.1896C>T (p.Tyr632=) c.1791C>T (p.Tyr597=) c.1782C>T (p.Tyr594=) c.1743C>T (p.Tyr581=) c.1689C>T (p.Tyr563=) c.1593C>T (p.Tyr531=) c.1563C>T (p.Tyr521=) c.1488C>T (p.Tyr496=) c.1386C>T (p.Tyr462=) c.1017C>T (p.Tyr339=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835073_112835074delinsAT | CA10582290 | APC | c.1531_1532delinsAT (n.1531_1532delinsAT) c.1920_1921delinsAT (p.Tyr640Ter) c.*1872_*1873delinsAT (n.*1872_*1873delinsAT) c.1812_1813delinsAT (p.Tyr604Ter) c.1866_1867delinsAT (p.Tyr622Ter) c.219_220delinsAT c.555_556delinsAT (p.Tyr185Ter) c.*1188_*1189delinsAT (n.*1188_*1189delinsAT) c.230+6101_230+6102delinsAT c.1896_1897delinsAT (p.Tyr632Ter) c.1791_1792delinsAT (p.Tyr597Ter) c.1782_1783delinsAT (p.Tyr594Ter) c.1743_1744delinsAT (p.Tyr581Ter) c.1689_1690delinsAT (p.Tyr563Ter) c.1593_1594delinsAT (p.Tyr531Ter) c.1563_1564delinsAT (p.Tyr521Ter) c.1488_1489delinsAT (p.Tyr496Ter) c.1386_1387delinsAT (p.Tyr462Ter) c.1017_1018delinsAT (p.Tyr339Ter) | ClinVar dbSNP |
| 5 | g.112835073_112835074delinsCC | CA1573471092 | APC | c.1531_1532delinsCC (n.1531_1532delinsCC) c.1920_1921delinsCC (p.Tyr640=) c.*1872_*1873delinsCC (n.*1872_*1873delinsCC) c.1812_1813delinsCC (p.Tyr604=) c.1866_1867delinsCC (p.Tyr622=) c.219_220delinsCC c.555_556delinsCC (p.Tyr185=) c.*1188_*1189delinsCC (n.*1188_*1189delinsCC) c.230+6101_230+6102delinsCC c.1896_1897delinsCC (p.Tyr632=) c.1791_1792delinsCC (p.Tyr597=) c.1782_1783delinsCC (p.Tyr594=) c.1743_1744delinsCC (p.Tyr581=) c.1689_1690delinsCC (p.Tyr563=) c.1593_1594delinsCC (p.Tyr531=) c.1563_1564delinsCC (p.Tyr521=) c.1488_1489delinsCC (p.Tyr496=) c.1386_1387delinsCC (p.Tyr462=) c.1017_1018delinsCC (p.Tyr339=) | |
| 5 | g.112835074dup | CA658655593 | APC | c.1532dup (n.1532dup) c.1921dup (p.Arg641ProfsTer11) c.*1873dup (n.*1873dup) c.1813dup (p.Arg605ProfsTer11) c.1867dup (p.Arg623ProfsTer11) c.220dup c.556dup (p.Arg186ProfsTer11) c.*1189dup (n.*1189dup) c.230+6102dup c.1897dup (p.Arg633ProfsTer11) c.1792dup (p.Arg598ProfsTer11) c.1783dup (p.Arg595ProfsTer11) c.1744dup (p.Arg582ProfsTer11) c.1690dup (p.Arg564ProfsTer11) c.1594dup (p.Arg532ProfsTer11) c.1564dup (p.Arg522ProfsTer11) c.1489dup (p.Arg497ProfsTer11) c.1387dup (p.Arg463ProfsTer11) c.1018dup (p.Arg340ProfsTer11) | |
| 5 | g.112835074C>A | CA445758892 | APC | c.1532C>A (n.1532C>A) c.1921C>A (p.Arg641=) c.*1873C>A (n.*1873C>A) c.1813C>A (p.Arg605=) c.1867C>A (p.Arg623=) c.220C>A c.556C>A (p.Arg186=) c.*1189C>A (n.*1189C>A) c.230+6102C>A c.1897C>A (p.Arg633=) c.1792C>A (p.Arg598=) c.1783C>A (p.Arg595=) c.1744C>A (p.Arg582=) c.1690C>A (p.Arg564=) c.1594C>A (p.Arg532=) c.1564C>A (p.Arg522=) c.1489C>A (p.Arg497=) c.1387C>A (p.Arg463=) c.1018C>A (p.Arg340=) | dbSNP |
| 5 | g.112835074C= | CA1573471106 | APC | c.1532C= (n.1532C=) c.1921C= (p.Arg641=) c.*1873C= (n.*1873C=) c.1813C= (p.Arg605=) c.1867C= (p.Arg623=) c.220C= c.556C= (p.Arg186=) c.*1189C= (n.*1189C=) c.230+6102C= c.1897C= (p.Arg633=) c.1792C= (p.Arg598=) c.1783C= (p.Arg595=) c.1744C= (p.Arg582=) c.1690C= (p.Arg564=) c.1594C= (p.Arg532=) c.1564C= (p.Arg522=) c.1489C= (p.Arg497=) c.1387C= (p.Arg463=) c.1018C= (p.Arg340=) | |
| 5 | g.112835074C>G | CA16025403 | APC | c.1532C>G (n.1532C>G) c.1921C>G (p.Arg641Gly) c.*1873C>G (n.*1873C>G) c.1813C>G (p.Arg605Gly) c.1867C>G (p.Arg623Gly) c.220C>G c.556C>G (p.Arg186Gly) c.*1189C>G (n.*1189C>G) c.230+6102C>G c.1897C>G (p.Arg633Gly) c.1792C>G (p.Arg598Gly) c.1783C>G (p.Arg595Gly) c.1744C>G (p.Arg582Gly) c.1690C>G (p.Arg564Gly) c.1594C>G (p.Arg532Gly) c.1564C>G (p.Arg522Gly) c.1489C>G (p.Arg497Gly) c.1387C>G (p.Arg463Gly) c.1018C>G (p.Arg340Gly) | dbSNP |
| 5 | g.112835074C>T | CA006202 | APC | c.1532C>T (n.1532C>T) c.1921C>T (p.Arg641Trp) c.*1873C>T (n.*1873C>T) c.1813C>T (p.Arg605Trp) c.1867C>T (p.Arg623Trp) c.220C>T c.556C>T (p.Arg186Trp) c.*1189C>T (n.*1189C>T) c.230+6102C>T c.1897C>T (p.Arg633Trp) c.1792C>T (p.Arg598Trp) c.1783C>T (p.Arg595Trp) c.1744C>T (p.Arg582Trp) c.1690C>T (p.Arg564Trp) c.1594C>T (p.Arg532Trp) c.1564C>T (p.Arg522Trp) c.1489C>T (p.Arg497Trp) c.1387C>T (p.Arg463Trp) c.1018C>T (p.Arg340Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112835075G>A | CA16025404 | APC | c.1533G>A (n.1533G>A) c.1922G>A (p.Arg641Gln) c.*1874G>A (n.*1874G>A) c.1814G>A (p.Arg605Gln) c.1868G>A (p.Arg623Gln) c.221G>A c.557G>A (p.Arg186Gln) c.*1190G>A (n.*1190G>A) c.230+6103G>A c.1898G>A (p.Arg633Gln) c.1793G>A (p.Arg598Gln) c.1784G>A (p.Arg595Gln) c.1745G>A (p.Arg582Gln) c.1691G>A (p.Arg564Gln) c.1595G>A (p.Arg532Gln) c.1565G>A (p.Arg522Gln) c.1490G>A (p.Arg497Gln) c.1388G>A (p.Arg463Gln) c.1019G>A (p.Arg340Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112835075G>C | CA16025405 | APC | c.1533G>C (n.1533G>C) c.1922G>C (p.Arg641Pro) c.*1874G>C (n.*1874G>C) c.1814G>C (p.Arg605Pro) c.1868G>C (p.Arg623Pro) c.221G>C c.557G>C (p.Arg186Pro) c.*1190G>C (n.*1190G>C) c.230+6103G>C c.1898G>C (p.Arg633Pro) c.1793G>C (p.Arg598Pro) c.1784G>C (p.Arg595Pro) c.1745G>C (p.Arg582Pro) c.1691G>C (p.Arg564Pro) c.1595G>C (p.Arg532Pro) c.1565G>C (p.Arg522Pro) c.1490G>C (p.Arg497Pro) c.1388G>C (p.Arg463Pro) c.1019G>C (p.Arg340Pro) | dbSNP |
| 5 | g.112835075G= | CA1573471113 | APC | c.1533G= (n.1533G=) c.1922G= (p.Arg641=) c.*1874G= (n.*1874G=) c.1814G= (p.Arg605=) c.1868G= (p.Arg623=) c.221G= c.557G= (p.Arg186=) c.*1190G= (n.*1190G=) c.230+6103G= c.1898G= (p.Arg633=) c.1793G= (p.Arg598=) c.1784G= (p.Arg595=) c.1745G= (p.Arg582=) c.1691G= (p.Arg564=) c.1595G= (p.Arg532=) c.1565G= (p.Arg522=) c.1490G= (p.Arg497=) c.1388G= (p.Arg463=) c.1019G= (p.Arg340=) | |
| 5 | g.112835075G>T | CA16025406 | APC | c.1533G>T (n.1533G>T) c.1922G>T (p.Arg641Leu) c.*1874G>T (n.*1874G>T) c.1814G>T (p.Arg605Leu) c.1868G>T (p.Arg623Leu) c.221G>T c.557G>T (p.Arg186Leu) c.*1190G>T (n.*1190G>T) c.230+6103G>T c.1898G>T (p.Arg633Leu) c.1793G>T (p.Arg598Leu) c.1784G>T (p.Arg595Leu) c.1745G>T (p.Arg582Leu) c.1691G>T (p.Arg564Leu) c.1595G>T (p.Arg532Leu) c.1565G>T (p.Arg522Leu) c.1490G>T (p.Arg497Leu) c.1388G>T (p.Arg463Leu) c.1019G>T (p.Arg340Leu) | dbSNP |
| 5 | g.112835076del | CA2580613628 | APC | c.1534del (n.1534del) c.1923del (p.Ser642AlafsTer6) c.*1875del (n.*1875del) c.1815del (p.Ser606AlafsTer6) c.1869del (p.Ser624AlafsTer6) c.222del c.558del (p.Ser187AlafsTer6) c.*1191del (n.*1191del) c.230+6104del c.1899del (p.Ser634AlafsTer6) c.1794del (p.Ser599AlafsTer6) c.1785del (p.Ser596AlafsTer6) c.1746del (p.Ser583AlafsTer6) c.1692del (p.Ser565AlafsTer6) c.1596del (p.Ser533AlafsTer6) c.1566del (p.Ser523AlafsTer6) c.1491del (p.Ser498AlafsTer6) c.1389del (p.Ser464AlafsTer6) c.1020del (p.Ser341AlafsTer6) | ClinVar |
| 5 | g.112835076G>A | CA445758895 | APC | c.1534G>A (n.1534G>A) c.1923G>A (p.Arg641=) c.*1875G>A (n.*1875G>A) c.1815G>A (p.Arg605=) c.1869G>A (p.Arg623=) c.222G>A c.558G>A (p.Arg186=) c.*1191G>A (n.*1191G>A) c.230+6104G>A c.1899G>A (p.Arg633=) c.1794G>A (p.Arg598=) c.1785G>A (p.Arg595=) c.1746G>A (p.Arg582=) c.1692G>A (p.Arg564=) c.1596G>A (p.Arg532=) c.1566G>A (p.Arg522=) c.1491G>A (p.Arg497=) c.1389G>A (p.Arg463=) c.1020G>A (p.Arg340=) | dbSNP |
| 5 | g.112835076G>C | CA445758894 | APC | c.1534G>C (n.1534G>C) c.1923G>C (p.Arg641=) c.*1875G>C (n.*1875G>C) c.1815G>C (p.Arg605=) c.1869G>C (p.Arg623=) c.222G>C c.558G>C (p.Arg186=) c.*1191G>C (n.*1191G>C) c.230+6104G>C c.1899G>C (p.Arg633=) c.1794G>C (p.Arg598=) c.1785G>C (p.Arg595=) c.1746G>C (p.Arg582=) c.1692G>C (p.Arg564=) c.1596G>C (p.Arg532=) c.1566G>C (p.Arg522=) c.1491G>C (p.Arg497=) c.1389G>C (p.Arg463=) c.1020G>C (p.Arg340=) | ClinVar dbSNP |
| 5 | g.112835076G>T | CA445758893 | APC | c.1534G>T (n.1534G>T) c.1923G>T (p.Arg641=) c.*1875G>T (n.*1875G>T) c.1815G>T (p.Arg605=) c.1869G>T (p.Arg623=) c.222G>T c.558G>T (p.Arg186=) c.*1191G>T (n.*1191G>T) c.230+6104G>T c.1899G>T (p.Arg633=) c.1794G>T (p.Arg598=) c.1785G>T (p.Arg595=) c.1746G>T (p.Arg582=) c.1692G>T (p.Arg564=) c.1596G>T (p.Arg532=) c.1566G>T (p.Arg522=) c.1491G>T (p.Arg497=) c.1389G>T (p.Arg463=) c.1020G>T (p.Arg340=) | |
| 5 | g.112835077A= | CA1573471120 | APC | c.1535A= (n.1535A=) c.1924A= (p.Ser642=) c.*1876A= (n.*1876A=) c.1816A= (p.Ser606=) c.1870A= (p.Ser624=) c.223A= c.559A= (p.Ser187=) c.*1192A= (n.*1192A=) c.230+6105A= c.1900A= (p.Ser634=) c.1795A= (p.Ser599=) c.1786A= (p.Ser596=) c.1747A= (p.Ser583=) c.1693A= (p.Ser565=) c.1597A= (p.Ser533=) c.1567A= (p.Ser523=) c.1492A= (p.Ser498=) c.1390A= (p.Ser464=) c.1021A= (p.Ser341=) | |
| 5 | g.112835077A>C | CA16025407 | APC | c.1535A>C (n.1535A>C) c.1924A>C (p.Ser642Arg) c.*1876A>C (n.*1876A>C) c.1816A>C (p.Ser606Arg) c.1870A>C (p.Ser624Arg) c.223A>C c.559A>C (p.Ser187Arg) c.*1192A>C (n.*1192A>C) c.230+6105A>C c.1900A>C (p.Ser634Arg) c.1795A>C (p.Ser599Arg) c.1786A>C (p.Ser596Arg) c.1747A>C (p.Ser583Arg) c.1693A>C (p.Ser565Arg) c.1597A>C (p.Ser533Arg) c.1567A>C (p.Ser523Arg) c.1492A>C (p.Ser498Arg) c.1390A>C (p.Ser464Arg) c.1021A>C (p.Ser341Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112835077A>G | CA16025408 | APC | c.1535A>G (n.1535A>G) c.1924A>G (p.Ser642Gly) c.*1876A>G (n.*1876A>G) c.1816A>G (p.Ser606Gly) c.1870A>G (p.Ser624Gly) c.223A>G c.559A>G (p.Ser187Gly) c.*1192A>G (n.*1192A>G) c.230+6105A>G c.1900A>G (p.Ser634Gly) c.1795A>G (p.Ser599Gly) c.1786A>G (p.Ser596Gly) c.1747A>G (p.Ser583Gly) c.1693A>G (p.Ser565Gly) c.1597A>G (p.Ser533Gly) c.1567A>G (p.Ser523Gly) c.1492A>G (p.Ser498Gly) c.1390A>G (p.Ser464Gly) c.1021A>G (p.Ser341Gly) | |
| 5 | g.112835077A>T | CA16025409 | APC | c.1535A>T (n.1535A>T) c.1924A>T (p.Ser642Cys) c.*1876A>T (n.*1876A>T) c.1816A>T (p.Ser606Cys) c.1870A>T (p.Ser624Cys) c.223A>T c.559A>T (p.Ser187Cys) c.*1192A>T (n.*1192A>T) c.230+6105A>T c.1900A>T (p.Ser634Cys) c.1795A>T (p.Ser599Cys) c.1786A>T (p.Ser596Cys) c.1747A>T (p.Ser583Cys) c.1693A>T (p.Ser565Cys) c.1597A>T (p.Ser533Cys) c.1567A>T (p.Ser523Cys) c.1492A>T (p.Ser498Cys) c.1390A>T (p.Ser464Cys) c.1021A>T (p.Ser341Cys) | ClinVar dbSNP |
| 5 | g.112835078G>A | CA16025410 | APC | c.1536G>A (n.1536G>A) c.1925G>A (p.Ser642Asn) c.*1877G>A (n.*1877G>A) c.1817G>A (p.Ser606Asn) c.1871G>A (p.Ser624Asn) c.224G>A c.560G>A (p.Ser187Asn) c.*1193G>A (n.*1193G>A) c.230+6106G>A c.1901G>A (p.Ser634Asn) c.1796G>A (p.Ser599Asn) c.1787G>A (p.Ser596Asn) c.1748G>A (p.Ser583Asn) c.1694G>A (p.Ser565Asn) c.1598G>A (p.Ser533Asn) c.1568G>A (p.Ser523Asn) c.1493G>A (p.Ser498Asn) c.1391G>A (p.Ser464Asn) c.1022G>A (p.Ser341Asn) | ClinVar |
| 5 | g.112835078G>C | CA16025411 | APC | c.1536G>C (n.1536G>C) c.1925G>C (p.Ser642Thr) c.*1877G>C (n.*1877G>C) c.1817G>C (p.Ser606Thr) c.1871G>C (p.Ser624Thr) c.224G>C c.560G>C (p.Ser187Thr) c.*1193G>C (n.*1193G>C) c.230+6106G>C c.1901G>C (p.Ser634Thr) c.1796G>C (p.Ser599Thr) c.1787G>C (p.Ser596Thr) c.1748G>C (p.Ser583Thr) c.1694G>C (p.Ser565Thr) c.1598G>C (p.Ser533Thr) c.1568G>C (p.Ser523Thr) c.1493G>C (p.Ser498Thr) c.1391G>C (p.Ser464Thr) c.1022G>C (p.Ser341Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112835078G= | CA1573471147 | APC | c.1536G= (n.1536G=) c.1925G= (p.Ser642=) c.*1877G= (n.*1877G=) c.1817G= (p.Ser606=) c.1871G= (p.Ser624=) c.224G= c.560G= (p.Ser187=) c.*1193G= (n.*1193G=) c.230+6106G= c.1901G= (p.Ser634=) c.1796G= (p.Ser599=) c.1787G= (p.Ser596=) c.1748G= (p.Ser583=) c.1694G= (p.Ser565=) c.1598G= (p.Ser533=) c.1568G= (p.Ser523=) c.1493G= (p.Ser498=) c.1391G= (p.Ser464=) c.1022G= (p.Ser341=) | |
| 5 | g.112835078G>T | CA16025412 | APC | c.1536G>T (n.1536G>T) c.1925G>T (p.Ser642Ile) c.*1877G>T (n.*1877G>T) c.1817G>T (p.Ser606Ile) c.1871G>T (p.Ser624Ile) c.224G>T c.560G>T (p.Ser187Ile) c.*1193G>T (n.*1193G>T) c.230+6106G>T c.1901G>T (p.Ser634Ile) c.1796G>T (p.Ser599Ile) c.1787G>T (p.Ser596Ile) c.1748G>T (p.Ser583Ile) c.1694G>T (p.Ser565Ile) c.1598G>T (p.Ser533Ile) c.1568G>T (p.Ser523Ile) c.1493G>T (p.Ser498Ile) c.1391G>T (p.Ser464Ile) c.1022G>T (p.Ser341Ile) | |
| 5 | g.112835079C>A | CA16025413 | APC | c.1537C>A (n.1537C>A) c.1926C>A (p.Ser642Arg) c.*1878C>A (n.*1878C>A) c.1818C>A (p.Ser606Arg) c.1872C>A (p.Ser624Arg) c.225C>A c.561C>A (p.Ser187Arg) c.*1194C>A (n.*1194C>A) c.230+6107C>A c.1902C>A (p.Ser634Arg) c.1797C>A (p.Ser599Arg) c.1788C>A (p.Ser596Arg) c.1749C>A (p.Ser583Arg) c.1695C>A (p.Ser565Arg) c.1599C>A (p.Ser533Arg) c.1569C>A (p.Ser523Arg) c.1494C>A (p.Ser498Arg) c.1392C>A (p.Ser464Arg) c.1023C>A (p.Ser341Arg) | dbSNP |
| 5 | g.112835079C= | CA1573471152 | APC | c.1537C= (n.1537C=) c.1926C= (p.Ser642=) c.*1878C= (n.*1878C=) c.1818C= (p.Ser606=) c.1872C= (p.Ser624=) c.225C= c.561C= (p.Ser187=) c.*1194C= (n.*1194C=) c.230+6107C= c.1902C= (p.Ser634=) c.1797C= (p.Ser599=) c.1788C= (p.Ser596=) c.1749C= (p.Ser583=) c.1695C= (p.Ser565=) c.1599C= (p.Ser533=) c.1569C= (p.Ser523=) c.1494C= (p.Ser498=) c.1392C= (p.Ser464=) c.1023C= (p.Ser341=) | |
| 5 | g.112835079C>G | CA16025414 | APC | c.1537C>G (n.1537C>G) c.1926C>G (p.Ser642Arg) c.*1878C>G (n.*1878C>G) c.1818C>G (p.Ser606Arg) c.1872C>G (p.Ser624Arg) c.225C>G c.561C>G (p.Ser187Arg) c.*1194C>G (n.*1194C>G) c.230+6107C>G c.1902C>G (p.Ser634Arg) c.1797C>G (p.Ser599Arg) c.1788C>G (p.Ser596Arg) c.1749C>G (p.Ser583Arg) c.1695C>G (p.Ser565Arg) c.1599C>G (p.Ser533Arg) c.1569C>G (p.Ser523Arg) c.1494C>G (p.Ser498Arg) c.1392C>G (p.Ser464Arg) c.1023C>G (p.Ser341Arg) | dbSNP |
| 5 | g.112835079C>T | CA029775 | APC | c.1537C>T (n.1537C>T) c.1926C>T (p.Ser642=) c.*1878C>T (n.*1878C>T) c.1818C>T (p.Ser606=) c.1872C>T (p.Ser624=) c.225C>T c.561C>T (p.Ser187=) c.*1194C>T (n.*1194C>T) c.230+6107C>T c.1902C>T (p.Ser634=) c.1797C>T (p.Ser599=) c.1788C>T (p.Ser596=) c.1749C>T (p.Ser583=) c.1695C>T (p.Ser565=) c.1599C>T (p.Ser533=) c.1569C>T (p.Ser523=) c.1494C>T (p.Ser498=) c.1392C>T (p.Ser464=) c.1023C>T (p.Ser341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112835080del | CA658760603 | APC | c.1538del (n.1538del) c.1927del (p.Gln643ArgfsTer5) c.*1879del (n.*1879del) c.1819del (p.Gln607ArgfsTer5) c.1873del (p.Gln625ArgfsTer5) c.226del c.562del (p.Gln188ArgfsTer5) c.*1195del (n.*1195del) c.230+6108del c.1903del (p.Gln635ArgfsTer5) c.1798del (p.Gln600ArgfsTer5) c.1789del (p.Gln597ArgfsTer5) c.1750del (p.Gln584ArgfsTer5) c.1696del (p.Gln566ArgfsTer5) c.1600del (p.Gln534ArgfsTer5) c.1570del (p.Gln524ArgfsTer5) c.1495del (p.Gln499ArgfsTer5) c.1393del (p.Gln465ArgfsTer5) c.1024del (p.Gln342ArgfsTer5) | ClinVar |
| 5 | g.112835079_112835083delinsCCAGA | CA1573471150 | APC | c.1537_1541delinsCCAGA (n.1537_1541delinsCCAGA) c.1926_1930delinsCCAGA (p.Ser642=) c.*1878_*1882delinsCCAGA (n.*1878_*1882delinsCCAGA) c.1818_1822delinsCCAGA (p.Ser606=) c.1872_1876delinsCCAGA (p.Ser624=) c.225_229delinsCCAGA c.561_565delinsCCAGA (p.Ser187=) c.*1194_*1198delinsCCAGA (n.*1194_*1198delinsCCAGA) c.230+6107_230+6111delinsCCAGA c.1902_1906delinsCCAGA (p.Ser634=) c.1797_1801delinsCCAGA (p.Ser599=) c.1788_1792delinsCCAGA (p.Ser596=) c.1749_1753delinsCCAGA (p.Ser583=) c.1695_1699delinsCCAGA (p.Ser565=) c.1599_1603delinsCCAGA (p.Ser533=) c.1569_1573delinsCCAGA (p.Ser523=) c.1494_1498delinsCCAGA (p.Ser498=) c.1392_1396delinsCCAGA (p.Ser464=) c.1023_1027delinsCCAGA (p.Ser341=) | |
| 5 | g.112835080C>A | CA16025415 | APC | c.1538C>A (n.1538C>A) c.1927C>A (p.Gln643Lys) c.*1879C>A (n.*1879C>A) c.1819C>A (p.Gln607Lys) c.1873C>A (p.Gln625Lys) c.226C>A c.562C>A (p.Gln188Lys) c.*1195C>A (n.*1195C>A) c.230+6108C>A c.1903C>A (p.Gln635Lys) c.1798C>A (p.Gln600Lys) c.1789C>A (p.Gln597Lys) c.1750C>A (p.Gln584Lys) c.1696C>A (p.Gln566Lys) c.1600C>A (p.Gln534Lys) c.1570C>A (p.Gln524Lys) c.1495C>A (p.Gln499Lys) c.1393C>A (p.Gln465Lys) c.1024C>A (p.Gln342Lys) | ClinVar dbSNP |
| 5 | g.112835080C= | CA1573471168 | APC | c.1538C= (n.1538C=) c.1927C= (p.Gln643=) c.*1879C= (n.*1879C=) c.1819C= (p.Gln607=) c.1873C= (p.Gln625=) c.226C= c.562C= (p.Gln188=) c.*1195C= (n.*1195C=) c.230+6108C= c.1903C= (p.Gln635=) c.1798C= (p.Gln600=) c.1789C= (p.Gln597=) c.1750C= (p.Gln584=) c.1696C= (p.Gln566=) c.1600C= (p.Gln534=) c.1570C= (p.Gln524=) c.1495C= (p.Gln499=) c.1393C= (p.Gln465=) c.1024C= (p.Gln342=) | |
| 5 | g.112835080C>G | CA16025416 | APC | c.1538C>G (n.1538C>G) c.1927C>G (p.Gln643Glu) c.*1879C>G (n.*1879C>G) c.1819C>G (p.Gln607Glu) c.1873C>G (p.Gln625Glu) c.226C>G c.562C>G (p.Gln188Glu) c.*1195C>G (n.*1195C>G) c.230+6108C>G c.1903C>G (p.Gln635Glu) c.1798C>G (p.Gln600Glu) c.1789C>G (p.Gln597Glu) c.1750C>G (p.Gln584Glu) c.1696C>G (p.Gln566Glu) c.1600C>G (p.Gln534Glu) c.1570C>G (p.Gln524Glu) c.1495C>G (p.Gln499Glu) c.1393C>G (p.Gln465Glu) c.1024C>G (p.Gln342Glu) | dbSNP |
| 5 | g.112835080C>T | CA10578329 | APC | c.1538C>T (n.1538C>T) c.1927C>T (p.Gln643Ter) c.*1879C>T (n.*1879C>T) c.1819C>T (p.Gln607Ter) c.1873C>T (p.Gln625Ter) c.226C>T c.562C>T (p.Gln188Ter) c.*1195C>T (n.*1195C>T) c.230+6108C>T c.1903C>T (p.Gln635Ter) c.1798C>T (p.Gln600Ter) c.1789C>T (p.Gln597Ter) c.1750C>T (p.Gln584Ter) c.1696C>T (p.Gln566Ter) c.1600C>T (p.Gln534Ter) c.1570C>T (p.Gln524Ter) c.1495C>T (p.Gln499Ter) c.1393C>T (p.Gln465Ter) c.1024C>T (p.Gln342Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835080_112835081del | CA2695205048 | APC | c.1538_1539del (n.1538_1539del) c.1927_1928del (p.Gln643AspfsTer8) c.*1879_*1880del (n.*1879_*1880del) c.1819_1820del (p.Gln607AspfsTer8) c.1873_1874del (p.Gln625AspfsTer8) c.226_227del c.562_563del (p.Gln188AspfsTer8) c.*1195_*1196del (n.*1195_*1196del) c.230+6108_230+6109del c.1903_1904del (p.Gln635AspfsTer8) c.1798_1799del (p.Gln600AspfsTer8) c.1789_1790del (p.Gln597AspfsTer8) c.1750_1751del (p.Gln584AspfsTer8) c.1696_1697del (p.Gln566AspfsTer8) c.1600_1601del (p.Gln534AspfsTer8) c.1570_1571del (p.Gln524AspfsTer8) c.1495_1496del (p.Gln499AspfsTer8) c.1393_1394del (p.Gln465AspfsTer8) c.1024_1025del (p.Gln342AspfsTer8) | |
| 5 | g.112835082_112835085del | CA10582291 | APC | c.1540_1543del (n.1540_1543del) c.1929_1932del (p.Asn645LeufsTer2) c.*1881_*1884del (n.*1881_*1884del) c.1821_1824del (p.Asn609LeufsTer2) c.1875_1878del (p.Asn627LeufsTer2) c.228_231del c.564_567del (p.Asn190LeufsTer2) c.*1197_*1200del (n.*1197_*1200del) c.230+6110_230+6113del c.1905_1908del (p.Asn637LeufsTer2) c.1800_1803del (p.Asn602LeufsTer2) c.1791_1794del (p.Asn599LeufsTer2) c.1752_1755del (p.Asn586LeufsTer2) c.1698_1701del (p.Asn568LeufsTer2) c.1602_1605del (p.Asn536LeufsTer2) c.1572_1575del (p.Asn526LeufsTer2) c.1497_1500del (p.Asn501LeufsTer2) c.1395_1398del (p.Asn467LeufsTer2) c.1026_1029del (p.Asn344LeufsTer2) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.112835081A>C | CA16025417 | APC | c.1539A>C (n.1539A>C) c.1928A>C (p.Gln643Pro) c.*1880A>C (n.*1880A>C) c.1820A>C (p.Gln607Pro) c.1874A>C (p.Gln625Pro) c.227A>C c.563A>C (p.Gln188Pro) c.*1196A>C (n.*1196A>C) c.230+6109A>C c.1904A>C (p.Gln635Pro) c.1799A>C (p.Gln600Pro) c.1790A>C (p.Gln597Pro) c.1751A>C (p.Gln584Pro) c.1697A>C (p.Gln566Pro) c.1601A>C (p.Gln534Pro) c.1571A>C (p.Gln524Pro) c.1496A>C (p.Gln499Pro) c.1394A>C (p.Gln465Pro) c.1025A>C (p.Gln342Pro) | |
| 5 | g.112835081A>G | CA16025418 | APC | c.1539A>G (n.1539A>G) c.1928A>G (p.Gln643Arg) c.*1880A>G (n.*1880A>G) c.1820A>G (p.Gln607Arg) c.1874A>G (p.Gln625Arg) c.227A>G c.563A>G (p.Gln188Arg) c.*1196A>G (n.*1196A>G) c.230+6109A>G c.1904A>G (p.Gln635Arg) c.1799A>G (p.Gln600Arg) c.1790A>G (p.Gln597Arg) c.1751A>G (p.Gln584Arg) c.1697A>G (p.Gln566Arg) c.1601A>G (p.Gln534Arg) c.1571A>G (p.Gln524Arg) c.1496A>G (p.Gln499Arg) c.1394A>G (p.Gln465Arg) c.1025A>G (p.Gln342Arg) | |
| 5 | g.112835081A>T | CA16025419 | APC | c.1539A>T (n.1539A>T) c.1928A>T (p.Gln643Leu) c.*1880A>T (n.*1880A>T) c.1820A>T (p.Gln607Leu) c.1874A>T (p.Gln625Leu) c.227A>T c.563A>T (p.Gln188Leu) c.*1196A>T (n.*1196A>T) c.230+6109A>T c.1904A>T (p.Gln635Leu) c.1799A>T (p.Gln600Leu) c.1790A>T (p.Gln597Leu) c.1751A>T (p.Gln584Leu) c.1697A>T (p.Gln566Leu) c.1601A>T (p.Gln534Leu) c.1571A>T (p.Gln524Leu) c.1496A>T (p.Gln499Leu) c.1394A>T (p.Gln465Leu) c.1025A>T (p.Gln342Leu) | dbSNP |
| 5 | g.112835082G>A | CA124982568 | APC | c.1540G>A (n.1540G>A) c.1929G>A (p.Gln643=) c.*1881G>A (n.*1881G>A) c.1821G>A (p.Gln607=) c.1875G>A (p.Gln625=) c.228G>A c.564G>A (p.Gln188=) c.*1197G>A (n.*1197G>A) c.230+6110G>A c.1905G>A (p.Gln635=) c.1800G>A (p.Gln600=) c.1791G>A (p.Gln597=) c.1752G>A (p.Gln584=) c.1698G>A (p.Gln566=) c.1602G>A (p.Gln534=) c.1572G>A (p.Gln524=) c.1497G>A (p.Gln499=) c.1395G>A (p.Gln465=) c.1026G>A (p.Gln342=) | ClinVar dbSNP gnomAD v4 |