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.112840128_112843000del | CA2582341313 | APC | c.4588_7460del (p.Asp1530Ter) c.*4540_*7412del (n.*4540_*7412del) c.4480_7352del (p.Asp1494Ter) c.4534_7406del (p.Asp1512Ter) c.230+11156_231-13649del c.4564_7436del (p.Asp1522Ter) c.4459_7331del (p.Asp1487Ter) c.4450_7322del (p.Asp1484Ter) c.4411_7283del (p.Asp1471Ter) c.4357_7229del (p.Asp1453Ter) c.4261_7133del (p.Asp1421Ter) c.4231_7103del (p.Asp1411Ter) c.4156_7028del (p.Asp1386Ter) c.4054_6926del (p.Asp1352Ter) c.3685_6557del (p.Asp1229Ter) | ClinVar |
| 5 | g.112841346_112841362delinsATAAATCGAGGTCAGCC | CA1573478197 | APC | c.5806_5822delinsATAAATCGAGGTCAGCC (p.Ile1936=) c.*5758_*5774delinsATAAATCGAGGTCAGCC (n.*5758_*5774delinsATAAATCGAGGTCAGCC) c.5698_5714delinsATAAATCGAGGTCAGCC (p.Ile1900=) c.5752_5768delinsATAAATCGAGGTCAGCC (p.Ile1918=) c.*5074_*5090delinsATAAATCGAGGTCAGCC (n.*5074_*5090delinsATAAATCGAGGTCAGCC) c.230+12374_230+12390delinsATAAATCGAGGTCAGCC c.5782_5798delinsATAAATCGAGGTCAGCC (p.Ile1928=) c.5677_5693delinsATAAATCGAGGTCAGCC (p.Ile1893=) c.5668_5684delinsATAAATCGAGGTCAGCC (p.Ile1890=) c.5629_5645delinsATAAATCGAGGTCAGCC (p.Ile1877=) c.5575_5591delinsATAAATCGAGGTCAGCC (p.Ile1859=) c.5479_5495delinsATAAATCGAGGTCAGCC (p.Ile1827=) c.5449_5465delinsATAAATCGAGGTCAGCC (p.Ile1817=) c.5374_5390delinsATAAATCGAGGTCAGCC (p.Ile1792=) c.5272_5288delinsATAAATCGAGGTCAGCC (p.Ile1758=) c.4903_4919delinsATAAATCGAGGTCAGCC (p.Ile1635=) | |
| 5 | g.112841351_112841366del | CA562217610 | APC | c.5811_5826del (p.Arg1938ProfsTer?) c.*5763_*5778del (n.*5763_*5778del) c.5703_5718del (p.Arg1902ProfsTer?) c.5757_5772del (p.Arg1920ProfsTer?) c.*5079_*5094del (n.*5079_*5094del) c.230+12379_230+12394del c.5787_5802del (p.Arg1930ProfsTer?) c.5682_5697del (p.Arg1895ProfsTer?) c.5673_5688del (p.Arg1892ProfsTer?) c.5634_5649del (p.Arg1879ProfsTer?) c.5580_5595del (p.Arg1861ProfsTer?) c.5484_5499del (p.Arg1829ProfsTer?) c.5454_5469del (p.Arg1819ProfsTer?) c.5379_5394del (p.Arg1794ProfsTer?) c.5277_5292del (p.Arg1760ProfsTer?) c.4908_4923del (p.Arg1637ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841350_112841351delinsAT | CA1573478222 | APC | c.5810_5811delinsAT (p.Asn1937=) c.*5762_*5763delinsAT (n.*5762_*5763delinsAT) c.5702_5703delinsAT (p.Asn1901=) c.5756_5757delinsAT (p.Asn1919=) c.*5078_*5079delinsAT (n.*5078_*5079delinsAT) c.230+12378_230+12379delinsAT c.5786_5787delinsAT (p.Asn1929=) c.5681_5682delinsAT (p.Asn1894=) c.5672_5673delinsAT (p.Asn1891=) c.5633_5634delinsAT (p.Asn1878=) c.5579_5580delinsAT (p.Asn1860=) c.5483_5484delinsAT (p.Asn1828=) c.5453_5454delinsAT (p.Asn1818=) c.5378_5379delinsAT (p.Asn1793=) c.5276_5277delinsAT (p.Asn1759=) c.4907_4908delinsAT (p.Asn1636=) | |
| 5 | g.112841351del | CA010629 | APC | c.5811del (p.Arg1938GlufsTer?) c.*5763del (n.*5763del) c.5703del (p.Arg1902GlufsTer?) c.5757del (p.Arg1920GlufsTer?) c.*5079del (n.*5079del) c.230+12379del c.5787del (p.Arg1930GlufsTer?) c.5682del (p.Arg1895GlufsTer?) c.5673del (p.Arg1892GlufsTer?) c.5634del (p.Arg1879GlufsTer?) c.5580del (p.Arg1861GlufsTer?) c.5484del (p.Arg1829GlufsTer?) c.5454del (p.Arg1819GlufsTer?) c.5379del (p.Arg1794GlufsTer?) c.5277del (p.Arg1760GlufsTer?) c.4908del (p.Arg1637GlufsTer?) | ClinVar dbSNP |
| 5 | g.112841351T>A | CA16033932 | APC | c.5811T>A (p.Asn1937Lys) c.*5763T>A (n.*5763T>A) c.5703T>A (p.Asn1901Lys) c.5757T>A (p.Asn1919Lys) c.*5079T>A (n.*5079T>A) c.230+12379T>A c.5787T>A (p.Asn1929Lys) c.5682T>A (p.Asn1894Lys) c.5673T>A (p.Asn1891Lys) c.5634T>A (p.Asn1878Lys) c.5580T>A (p.Asn1860Lys) c.5484T>A (p.Asn1828Lys) c.5454T>A (p.Asn1818Lys) c.5379T>A (p.Asn1793Lys) c.5277T>A (p.Asn1759Lys) c.4908T>A (p.Asn1636Lys) | dbSNP |
| 5 | g.112841351T>C | CA446209425 | APC | c.5811T>C (p.Asn1937=) c.*5763T>C (n.*5763T>C) c.5703T>C (p.Asn1901=) c.5757T>C (p.Asn1919=) c.*5079T>C (n.*5079T>C) c.230+12379T>C c.5787T>C (p.Asn1929=) c.5682T>C (p.Asn1894=) c.5673T>C (p.Asn1891=) c.5634T>C (p.Asn1878=) c.5580T>C (p.Asn1860=) c.5484T>C (p.Asn1828=) c.5454T>C (p.Asn1818=) c.5379T>C (p.Asn1793=) c.5277T>C (p.Asn1759=) c.4908T>C (p.Asn1636=) | ClinVar dbSNP |
| 5 | g.112841351T>G | CA16033933 | APC | c.5811T>G (p.Asn1937Lys) c.*5763T>G (n.*5763T>G) c.5703T>G (p.Asn1901Lys) c.5757T>G (p.Asn1919Lys) c.*5079T>G (n.*5079T>G) c.230+12379T>G c.5787T>G (p.Asn1929Lys) c.5682T>G (p.Asn1894Lys) c.5673T>G (p.Asn1891Lys) c.5634T>G (p.Asn1878Lys) c.5580T>G (p.Asn1860Lys) c.5484T>G (p.Asn1828Lys) c.5454T>G (p.Asn1818Lys) c.5379T>G (p.Asn1793Lys) c.5277T>G (p.Asn1759Lys) c.4908T>G (p.Asn1636Lys) | dbSNP |
| 5 | g.112841352C>A | CA446209429 | APC | c.5812C>A (p.Arg1938=) c.*5764C>A (n.*5764C>A) c.5704C>A (p.Arg1902=) c.5758C>A (p.Arg1920=) c.*5080C>A (n.*5080C>A) c.230+12380C>A c.5788C>A (p.Arg1930=) c.5683C>A (p.Arg1895=) c.5674C>A (p.Arg1892=) c.5635C>A (p.Arg1879=) c.5581C>A (p.Arg1861=) c.5485C>A (p.Arg1829=) c.5455C>A (p.Arg1819=) c.5380C>A (p.Arg1794=) c.5278C>A (p.Arg1760=) c.4909C>A (p.Arg1637=) | ClinVar dbSNP |
| 5 | g.112841352C= | CA1573478230 | APC | c.5812C= (p.Arg1938=) c.*5764C= (n.*5764C=) c.5704C= (p.Arg1902=) c.5758C= (p.Arg1920=) c.*5080C= (n.*5080C=) c.230+12380C= c.5788C= (p.Arg1930=) c.5683C= (p.Arg1895=) c.5674C= (p.Arg1892=) c.5635C= (p.Arg1879=) c.5581C= (p.Arg1861=) c.5485C= (p.Arg1829=) c.5455C= (p.Arg1819=) c.5380C= (p.Arg1794=) c.5278C= (p.Arg1760=) c.4909C= (p.Arg1637=) | |
| 5 | g.112841352C>G | CA010637 | APC | c.5812C>G (p.Arg1938Gly) c.*5764C>G (n.*5764C>G) c.5704C>G (p.Arg1902Gly) c.5758C>G (p.Arg1920Gly) c.*5080C>G (n.*5080C>G) c.230+12380C>G c.5788C>G (p.Arg1930Gly) c.5683C>G (p.Arg1895Gly) c.5674C>G (p.Arg1892Gly) c.5635C>G (p.Arg1879Gly) c.5581C>G (p.Arg1861Gly) c.5485C>G (p.Arg1829Gly) c.5455C>G (p.Arg1819Gly) c.5380C>G (p.Arg1794Gly) c.5278C>G (p.Arg1760Gly) c.4909C>G (p.Arg1637Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112841352C>T | CA16033934 | APC | c.5812C>T (p.Arg1938Ter) c.*5764C>T (n.*5764C>T) c.5704C>T (p.Arg1902Ter) c.5758C>T (p.Arg1920Ter) c.*5080C>T (n.*5080C>T) c.230+12380C>T c.5788C>T (p.Arg1930Ter) c.5683C>T (p.Arg1895Ter) c.5674C>T (p.Arg1892Ter) c.5635C>T (p.Arg1879Ter) c.5581C>T (p.Arg1861Ter) c.5485C>T (p.Arg1829Ter) c.5455C>T (p.Arg1819Ter) c.5380C>T (p.Arg1794Ter) c.5278C>T (p.Arg1760Ter) c.4909C>T (p.Arg1637Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112841353del | CA658760798 | APC | c.5813del (p.Arg1938GlnfsTer?) c.*5765del (n.*5765del) c.5705del (p.Arg1902GlnfsTer?) c.5759del (p.Arg1920GlnfsTer?) c.*5081del (n.*5081del) c.230+12381del c.5789del (p.Arg1930GlnfsTer?) c.5684del (p.Arg1895GlnfsTer?) c.5675del (p.Arg1892GlnfsTer?) c.5636del (p.Arg1879GlnfsTer?) c.5582del (p.Arg1861GlnfsTer?) c.5486del (p.Arg1829GlnfsTer?) c.5456del (p.Arg1819GlnfsTer?) c.5381del (p.Arg1794GlnfsTer?) c.5279del (p.Arg1760GlnfsTer?) c.4910del (p.Arg1637GlnfsTer?) | |
| 5 | g.112841353G>A | CA010645 | APC | c.5813G>A (p.Arg1938Gln) c.*5765G>A (n.*5765G>A) c.5705G>A (p.Arg1902Gln) c.5759G>A (p.Arg1920Gln) c.*5081G>A (n.*5081G>A) c.230+12381G>A c.5789G>A (p.Arg1930Gln) c.5684G>A (p.Arg1895Gln) c.5675G>A (p.Arg1892Gln) c.5636G>A (p.Arg1879Gln) c.5582G>A (p.Arg1861Gln) c.5486G>A (p.Arg1829Gln) c.5456G>A (p.Arg1819Gln) c.5381G>A (p.Arg1794Gln) c.5279G>A (p.Arg1760Gln) c.4910G>A (p.Arg1637Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112841353G>C | CA16033935 | APC | c.5813G>C (p.Arg1938Pro) c.*5765G>C (n.*5765G>C) c.5705G>C (p.Arg1902Pro) c.5759G>C (p.Arg1920Pro) c.*5081G>C (n.*5081G>C) c.230+12381G>C c.5789G>C (p.Arg1930Pro) c.5684G>C (p.Arg1895Pro) c.5675G>C (p.Arg1892Pro) c.5636G>C (p.Arg1879Pro) c.5582G>C (p.Arg1861Pro) c.5486G>C (p.Arg1829Pro) c.5456G>C (p.Arg1819Pro) c.5381G>C (p.Arg1794Pro) c.5279G>C (p.Arg1760Pro) c.4910G>C (p.Arg1637Pro) | dbSNP |
| 5 | g.112841353G= | CA1573478236 | APC | c.5813G= (p.Arg1938=) c.*5765G= (n.*5765G=) c.5705G= (p.Arg1902=) c.5759G= (p.Arg1920=) c.*5081G= (n.*5081G=) c.230+12381G= c.5789G= (p.Arg1930=) c.5684G= (p.Arg1895=) c.5675G= (p.Arg1892=) c.5636G= (p.Arg1879=) c.5582G= (p.Arg1861=) c.5486G= (p.Arg1829=) c.5456G= (p.Arg1819=) c.5381G= (p.Arg1794=) c.5279G= (p.Arg1760=) c.4910G= (p.Arg1637=) | |
| 5 | g.112841353G>T | CA010655 | APC | c.5813G>T (p.Arg1938Leu) c.*5765G>T (n.*5765G>T) c.5705G>T (p.Arg1902Leu) c.5759G>T (p.Arg1920Leu) c.*5081G>T (n.*5081G>T) c.230+12381G>T c.5789G>T (p.Arg1930Leu) c.5684G>T (p.Arg1895Leu) c.5675G>T (p.Arg1892Leu) c.5636G>T (p.Arg1879Leu) c.5582G>T (p.Arg1861Leu) c.5486G>T (p.Arg1829Leu) c.5456G>T (p.Arg1819Leu) c.5381G>T (p.Arg1794Leu) c.5279G>T (p.Arg1760Leu) c.4910G>T (p.Arg1637Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841354A>C | CA446209430 | APC | c.5814A>C (p.Arg1938=) c.*5766A>C (n.*5766A>C) c.5706A>C (p.Arg1902=) c.5760A>C (p.Arg1920=) c.*5082A>C (n.*5082A>C) c.230+12382A>C c.5790A>C (p.Arg1930=) c.5685A>C (p.Arg1895=) c.5676A>C (p.Arg1892=) c.5637A>C (p.Arg1879=) c.5583A>C (p.Arg1861=) c.5487A>C (p.Arg1829=) c.5457A>C (p.Arg1819=) c.5382A>C (p.Arg1794=) c.5280A>C (p.Arg1760=) c.4911A>C (p.Arg1637=) | |
| 5 | g.112841354A>G | CA446209431 | APC | c.5814A>G (p.Arg1938=) c.*5766A>G (n.*5766A>G) c.5706A>G (p.Arg1902=) c.5760A>G (p.Arg1920=) c.*5082A>G (n.*5082A>G) c.230+12382A>G c.5790A>G (p.Arg1930=) c.5685A>G (p.Arg1895=) c.5676A>G (p.Arg1892=) c.5637A>G (p.Arg1879=) c.5583A>G (p.Arg1861=) c.5487A>G (p.Arg1829=) c.5457A>G (p.Arg1819=) c.5382A>G (p.Arg1794=) c.5280A>G (p.Arg1760=) c.4911A>G (p.Arg1637=) | dbSNP |
| 5 | g.112841354A>T | CA446209434 | APC | c.5814A>T (p.Arg1938=) c.*5766A>T (n.*5766A>T) c.5706A>T (p.Arg1902=) c.5760A>T (p.Arg1920=) c.*5082A>T (n.*5082A>T) c.230+12382A>T c.5790A>T (p.Arg1930=) c.5685A>T (p.Arg1895=) c.5676A>T (p.Arg1892=) c.5637A>T (p.Arg1879=) c.5583A>T (p.Arg1861=) c.5487A>T (p.Arg1829=) c.5457A>T (p.Arg1819=) c.5382A>T (p.Arg1794=) c.5280A>T (p.Arg1760=) c.4911A>T (p.Arg1637=) | dbSNP |
| 5 | g.112841355G>A | CA16033936 | APC | c.5815G>A (p.Gly1939Ser) c.*5767G>A (n.*5767G>A) c.5707G>A (p.Gly1903Ser) c.5761G>A (p.Gly1921Ser) c.*5083G>A (n.*5083G>A) c.230+12383G>A c.5791G>A (p.Gly1931Ser) c.5686G>A (p.Gly1896Ser) c.5677G>A (p.Gly1893Ser) c.5638G>A (p.Gly1880Ser) c.5584G>A (p.Gly1862Ser) c.5488G>A (p.Gly1830Ser) c.5458G>A (p.Gly1820Ser) c.5383G>A (p.Gly1795Ser) c.5281G>A (p.Gly1761Ser) c.4912G>A (p.Gly1638Ser) | ClinVar dbSNP |
| 5 | g.112841355G>C | CA16033937 | APC | c.5815G>C (p.Gly1939Arg) c.*5767G>C (n.*5767G>C) c.5707G>C (p.Gly1903Arg) c.5761G>C (p.Gly1921Arg) c.*5083G>C (n.*5083G>C) c.230+12383G>C c.5791G>C (p.Gly1931Arg) c.5686G>C (p.Gly1896Arg) c.5677G>C (p.Gly1893Arg) c.5638G>C (p.Gly1880Arg) c.5584G>C (p.Gly1862Arg) c.5488G>C (p.Gly1830Arg) c.5458G>C (p.Gly1820Arg) c.5383G>C (p.Gly1795Arg) c.5281G>C (p.Gly1761Arg) c.4912G>C (p.Gly1638Arg) | ClinVar dbSNP |
| 5 | g.112841355G= | CA1573478244 | APC | c.5815G= (p.Gly1939=) c.*5767G= (n.*5767G=) c.5707G= (p.Gly1903=) c.5761G= (p.Gly1921=) c.*5083G= (n.*5083G=) c.230+12383G= c.5791G= (p.Gly1931=) c.5686G= (p.Gly1896=) c.5677G= (p.Gly1893=) c.5638G= (p.Gly1880=) c.5584G= (p.Gly1862=) c.5488G= (p.Gly1830=) c.5458G= (p.Gly1820=) c.5383G= (p.Gly1795=) c.5281G= (p.Gly1761=) c.4912G= (p.Gly1638=) | |
| 5 | g.112841355G>T | CA16033938 | APC | c.5815G>T (p.Gly1939Cys) c.*5767G>T (n.*5767G>T) c.5707G>T (p.Gly1903Cys) c.5761G>T (p.Gly1921Cys) c.*5083G>T (n.*5083G>T) c.230+12383G>T c.5791G>T (p.Gly1931Cys) c.5686G>T (p.Gly1896Cys) c.5677G>T (p.Gly1893Cys) c.5638G>T (p.Gly1880Cys) c.5584G>T (p.Gly1862Cys) c.5488G>T (p.Gly1830Cys) c.5458G>T (p.Gly1820Cys) c.5383G>T (p.Gly1795Cys) c.5281G>T (p.Gly1761Cys) c.4912G>T (p.Gly1638Cys) | ClinVar dbSNP |
| 5 | g.112841356G>A | CA16033939 | APC | c.5816G>A (p.Gly1939Asp) c.*5768G>A (n.*5768G>A) c.5708G>A (p.Gly1903Asp) c.5762G>A (p.Gly1921Asp) c.*5084G>A (n.*5084G>A) c.230+12384G>A c.5792G>A (p.Gly1931Asp) c.5687G>A (p.Gly1896Asp) c.5678G>A (p.Gly1893Asp) c.5639G>A (p.Gly1880Asp) c.5585G>A (p.Gly1862Asp) c.5489G>A (p.Gly1830Asp) c.5459G>A (p.Gly1820Asp) c.5384G>A (p.Gly1795Asp) c.5282G>A (p.Gly1761Asp) c.4913G>A (p.Gly1638Asp) | ClinVar |
| 5 | g.112841356G>C | CA16033940 | APC | c.5816G>C (p.Gly1939Ala) c.*5768G>C (n.*5768G>C) c.5708G>C (p.Gly1903Ala) c.5762G>C (p.Gly1921Ala) c.*5084G>C (n.*5084G>C) c.230+12384G>C c.5792G>C (p.Gly1931Ala) c.5687G>C (p.Gly1896Ala) c.5678G>C (p.Gly1893Ala) c.5639G>C (p.Gly1880Ala) c.5585G>C (p.Gly1862Ala) c.5489G>C (p.Gly1830Ala) c.5459G>C (p.Gly1820Ala) c.5384G>C (p.Gly1795Ala) c.5282G>C (p.Gly1761Ala) c.4913G>C (p.Gly1638Ala) | ClinVar |
| 5 | g.112841356G= | CA1573478253 | APC | c.5816G= (p.Gly1939=) c.*5768G= (n.*5768G=) c.5708G= (p.Gly1903=) c.5762G= (p.Gly1921=) c.*5084G= (n.*5084G=) c.230+12384G= c.5792G= (p.Gly1931=) c.5687G= (p.Gly1896=) c.5678G= (p.Gly1893=) c.5639G= (p.Gly1880=) c.5585G= (p.Gly1862=) c.5489G= (p.Gly1830=) c.5459G= (p.Gly1820=) c.5384G= (p.Gly1795=) c.5282G= (p.Gly1761=) c.4913G= (p.Gly1638=) | |
| 5 | g.112841356G>T | CA010667 | APC | c.5816G>T (p.Gly1939Val) c.*5768G>T (n.*5768G>T) c.5708G>T (p.Gly1903Val) c.5762G>T (p.Gly1921Val) c.*5084G>T (n.*5084G>T) c.230+12384G>T c.5792G>T (p.Gly1931Val) c.5687G>T (p.Gly1896Val) c.5678G>T (p.Gly1893Val) c.5639G>T (p.Gly1880Val) c.5585G>T (p.Gly1862Val) c.5489G>T (p.Gly1830Val) c.5459G>T (p.Gly1820Val) c.5384G>T (p.Gly1795Val) c.5282G>T (p.Gly1761Val) c.4913G>T (p.Gly1638Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841357T>A | CA446209438 | APC | c.5817T>A (p.Gly1939=) c.*5769T>A (n.*5769T>A) c.5709T>A (p.Gly1903=) c.5763T>A (p.Gly1921=) c.*5085T>A (n.*5085T>A) c.230+12385T>A c.5793T>A (p.Gly1931=) c.5688T>A (p.Gly1896=) c.5679T>A (p.Gly1893=) c.5640T>A (p.Gly1880=) c.5586T>A (p.Gly1862=) c.5490T>A (p.Gly1830=) c.5460T>A (p.Gly1820=) c.5385T>A (p.Gly1795=) c.5283T>A (p.Gly1761=) c.4914T>A (p.Gly1638=) | dbSNP |
| 5 | g.112841357T>C | CA446209439 | APC | c.5817T>C (p.Gly1939=) c.*5769T>C (n.*5769T>C) c.5709T>C (p.Gly1903=) c.5763T>C (p.Gly1921=) c.*5085T>C (n.*5085T>C) c.230+12385T>C c.5793T>C (p.Gly1931=) c.5688T>C (p.Gly1896=) c.5679T>C (p.Gly1893=) c.5640T>C (p.Gly1880=) c.5586T>C (p.Gly1862=) c.5490T>C (p.Gly1830=) c.5460T>C (p.Gly1820=) c.5385T>C (p.Gly1795=) c.5283T>C (p.Gly1761=) c.4914T>C (p.Gly1638=) | dbSNP |
| 5 | g.112841357T>G | CA446209441 | APC | c.5817T>G (p.Gly1939=) c.*5769T>G (n.*5769T>G) c.5709T>G (p.Gly1903=) c.5763T>G (p.Gly1921=) c.*5085T>G (n.*5085T>G) c.230+12385T>G c.5793T>G (p.Gly1931=) c.5688T>G (p.Gly1896=) c.5679T>G (p.Gly1893=) c.5640T>G (p.Gly1880=) c.5586T>G (p.Gly1862=) c.5490T>G (p.Gly1830=) c.5460T>G (p.Gly1820=) c.5385T>G (p.Gly1795=) c.5283T>G (p.Gly1761=) c.4914T>G (p.Gly1638=) | ClinVar dbSNP |
| 5 | g.112841358C>A | CA16033941 | APC | c.5818C>A (p.Gln1940Lys) c.*5770C>A (n.*5770C>A) c.5710C>A (p.Gln1904Lys) c.5764C>A (p.Gln1922Lys) c.*5086C>A (n.*5086C>A) c.230+12386C>A c.5794C>A (p.Gln1932Lys) c.5689C>A (p.Gln1897Lys) c.5680C>A (p.Gln1894Lys) c.5641C>A (p.Gln1881Lys) c.5587C>A (p.Gln1863Lys) c.5491C>A (p.Gln1831Lys) c.5461C>A (p.Gln1821Lys) c.5386C>A (p.Gln1796Lys) c.5284C>A (p.Gln1762Lys) c.4915C>A (p.Gln1639Lys) | dbSNP |
| 5 | g.112841358C= | CA1573478266 | APC | c.5818C= (p.Gln1940=) c.*5770C= (n.*5770C=) c.5710C= (p.Gln1904=) c.5764C= (p.Gln1922=) c.*5086C= (n.*5086C=) c.230+12386C= c.5794C= (p.Gln1932=) c.5689C= (p.Gln1897=) c.5680C= (p.Gln1894=) c.5641C= (p.Gln1881=) c.5587C= (p.Gln1863=) c.5491C= (p.Gln1831=) c.5461C= (p.Gln1821=) c.5386C= (p.Gln1796=) c.5284C= (p.Gln1762=) c.4915C= (p.Gln1639=) | |
| 5 | g.112841358C>G | CA16033942 | APC | c.5818C>G (p.Gln1940Glu) c.*5770C>G (n.*5770C>G) c.5710C>G (p.Gln1904Glu) c.5764C>G (p.Gln1922Glu) c.*5086C>G (n.*5086C>G) c.230+12386C>G c.5794C>G (p.Gln1932Glu) c.5689C>G (p.Gln1897Glu) c.5680C>G (p.Gln1894Glu) c.5641C>G (p.Gln1881Glu) c.5587C>G (p.Gln1863Glu) c.5491C>G (p.Gln1831Glu) c.5461C>G (p.Gln1821Glu) c.5386C>G (p.Gln1796Glu) c.5284C>G (p.Gln1762Glu) c.4915C>G (p.Gln1639Glu) | dbSNP |
| 5 | g.112841358C>T | CA16033943 | APC | c.5818C>T (p.Gln1940Ter) c.*5770C>T (n.*5770C>T) c.5710C>T (p.Gln1904Ter) c.5764C>T (p.Gln1922Ter) c.*5086C>T (n.*5086C>T) c.230+12386C>T c.5794C>T (p.Gln1932Ter) c.5689C>T (p.Gln1897Ter) c.5680C>T (p.Gln1894Ter) c.5641C>T (p.Gln1881Ter) c.5587C>T (p.Gln1863Ter) c.5491C>T (p.Gln1831Ter) c.5461C>T (p.Gln1821Ter) c.5386C>T (p.Gln1796Ter) c.5284C>T (p.Gln1762Ter) c.4915C>T (p.Gln1639Ter) | ClinVar dbSNP |
| 5 | g.112841359A= | CA1573478274 | APC | c.5819A= (p.Gln1940=) c.*5771A= (n.*5771A=) c.5711A= (p.Gln1904=) c.5765A= (p.Gln1922=) c.*5087A= (n.*5087A=) c.230+12387A= c.5795A= (p.Gln1932=) c.5690A= (p.Gln1897=) c.5681A= (p.Gln1894=) c.5642A= (p.Gln1881=) c.5588A= (p.Gln1863=) c.5492A= (p.Gln1831=) c.5462A= (p.Gln1821=) c.5387A= (p.Gln1796=) c.5285A= (p.Gln1762=) c.4916A= (p.Gln1639=) | |
| 5 | g.112841359A>C | CA16033944 | APC | c.5819A>C (p.Gln1940Pro) c.*5771A>C (n.*5771A>C) c.5711A>C (p.Gln1904Pro) c.5765A>C (p.Gln1922Pro) c.*5087A>C (n.*5087A>C) c.230+12387A>C c.5795A>C (p.Gln1932Pro) c.5690A>C (p.Gln1897Pro) c.5681A>C (p.Gln1894Pro) c.5642A>C (p.Gln1881Pro) c.5588A>C (p.Gln1863Pro) c.5492A>C (p.Gln1831Pro) c.5462A>C (p.Gln1821Pro) c.5387A>C (p.Gln1796Pro) c.5285A>C (p.Gln1762Pro) c.4916A>C (p.Gln1639Pro) | |
| 5 | g.112841359A>G | CA16033945 | APC | c.5819A>G (p.Gln1940Arg) c.*5771A>G (n.*5771A>G) c.5711A>G (p.Gln1904Arg) c.5765A>G (p.Gln1922Arg) c.*5087A>G (n.*5087A>G) c.230+12387A>G c.5795A>G (p.Gln1932Arg) c.5690A>G (p.Gln1897Arg) c.5681A>G (p.Gln1894Arg) c.5642A>G (p.Gln1881Arg) c.5588A>G (p.Gln1863Arg) c.5492A>G (p.Gln1831Arg) c.5462A>G (p.Gln1821Arg) c.5387A>G (p.Gln1796Arg) c.5285A>G (p.Gln1762Arg) c.4916A>G (p.Gln1639Arg) | ClinVar dbSNP |
| 5 | g.112841359A>T | CA16033946 | APC | c.5819A>T (p.Gln1940Leu) c.*5771A>T (n.*5771A>T) c.5711A>T (p.Gln1904Leu) c.5765A>T (p.Gln1922Leu) c.*5087A>T (n.*5087A>T) c.230+12387A>T c.5795A>T (p.Gln1932Leu) c.5690A>T (p.Gln1897Leu) c.5681A>T (p.Gln1894Leu) c.5642A>T (p.Gln1881Leu) c.5588A>T (p.Gln1863Leu) c.5492A>T (p.Gln1831Leu) c.5462A>T (p.Gln1821Leu) c.5387A>T (p.Gln1796Leu) c.5285A>T (p.Gln1762Leu) c.4916A>T (p.Gln1639Leu) | ClinVar dbSNP |
| 5 | g.112841360G>A | CA446209444 | APC | c.5820G>A (p.Gln1940=) c.*5772G>A (n.*5772G>A) c.5712G>A (p.Gln1904=) c.5766G>A (p.Gln1922=) c.*5088G>A (n.*5088G>A) c.230+12388G>A c.5796G>A (p.Gln1932=) c.5691G>A (p.Gln1897=) c.5682G>A (p.Gln1894=) c.5643G>A (p.Gln1881=) c.5589G>A (p.Gln1863=) c.5493G>A (p.Gln1831=) c.5463G>A (p.Gln1821=) c.5388G>A (p.Gln1796=) c.5286G>A (p.Gln1762=) c.4917G>A (p.Gln1639=) | ClinVar dbSNP |
| 5 | g.112841360G>C | CA16033947 | APC | c.5820G>C (p.Gln1940His) c.*5772G>C (n.*5772G>C) c.5712G>C (p.Gln1904His) c.5766G>C (p.Gln1922His) c.*5088G>C (n.*5088G>C) c.230+12388G>C c.5796G>C (p.Gln1932His) c.5691G>C (p.Gln1897His) c.5682G>C (p.Gln1894His) c.5643G>C (p.Gln1881His) c.5589G>C (p.Gln1863His) c.5493G>C (p.Gln1831His) c.5463G>C (p.Gln1821His) c.5388G>C (p.Gln1796His) c.5286G>C (p.Gln1762His) c.4917G>C (p.Gln1639His) | dbSNP gnomAD v4 |
| 5 | g.112841360G>T | CA16033948 | APC | c.5820G>T (p.Gln1940His) c.*5772G>T (n.*5772G>T) c.5712G>T (p.Gln1904His) c.5766G>T (p.Gln1922His) c.*5088G>T (n.*5088G>T) c.230+12388G>T c.5796G>T (p.Gln1932His) c.5691G>T (p.Gln1897His) c.5682G>T (p.Gln1894His) c.5643G>T (p.Gln1881His) c.5589G>T (p.Gln1863His) c.5493G>T (p.Gln1831His) c.5463G>T (p.Gln1821His) c.5388G>T (p.Gln1796His) c.5286G>T (p.Gln1762His) c.4917G>T (p.Gln1639His) | dbSNP COSMIC |
| 5 | g.112841361C>A | CA16033949 | APC | c.5821C>A (p.Pro1941Thr) c.*5773C>A (n.*5773C>A) c.5713C>A (p.Pro1905Thr) c.5767C>A (p.Pro1923Thr) c.*5089C>A (n.*5089C>A) c.230+12389C>A c.5797C>A (p.Pro1933Thr) c.5692C>A (p.Pro1898Thr) c.5683C>A (p.Pro1895Thr) c.5644C>A (p.Pro1882Thr) c.5590C>A (p.Pro1864Thr) c.5494C>A (p.Pro1832Thr) c.5464C>A (p.Pro1822Thr) c.5389C>A (p.Pro1797Thr) c.5287C>A (p.Pro1763Thr) c.4918C>A (p.Pro1640Thr) | dbSNP |
| 5 | g.112841361C>G | CA16033950 | APC | c.5821C>G (p.Pro1941Ala) c.*5773C>G (n.*5773C>G) c.5713C>G (p.Pro1905Ala) c.5767C>G (p.Pro1923Ala) c.*5089C>G (n.*5089C>G) c.230+12389C>G c.5797C>G (p.Pro1933Ala) c.5692C>G (p.Pro1898Ala) c.5683C>G (p.Pro1895Ala) c.5644C>G (p.Pro1882Ala) c.5590C>G (p.Pro1864Ala) c.5494C>G (p.Pro1832Ala) c.5464C>G (p.Pro1822Ala) c.5389C>G (p.Pro1797Ala) c.5287C>G (p.Pro1763Ala) c.4918C>G (p.Pro1640Ala) | dbSNP |
| 5 | g.112841361C>T | CA16033951 | APC | c.5821C>T (p.Pro1941Ser) c.*5773C>T (n.*5773C>T) c.5713C>T (p.Pro1905Ser) c.5767C>T (p.Pro1923Ser) c.*5089C>T (n.*5089C>T) c.230+12389C>T c.5797C>T (p.Pro1933Ser) c.5692C>T (p.Pro1898Ser) c.5683C>T (p.Pro1895Ser) c.5644C>T (p.Pro1882Ser) c.5590C>T (p.Pro1864Ser) c.5494C>T (p.Pro1832Ser) c.5464C>T (p.Pro1822Ser) c.5389C>T (p.Pro1797Ser) c.5287C>T (p.Pro1763Ser) c.4918C>T (p.Pro1640Ser) | dbSNP |
| 5 | g.112841362del | CA1139770837 | APC | c.5822del (p.Pro1941LeufsTer?) c.*5774del (n.*5774del) c.5714del (p.Pro1905LeufsTer?) c.5768del (p.Pro1923LeufsTer?) c.*5090del (n.*5090del) c.230+12390del c.5798del (p.Pro1933LeufsTer?) c.5693del (p.Pro1898LeufsTer?) c.5684del (p.Pro1895LeufsTer?) c.5645del (p.Pro1882LeufsTer?) c.5591del (p.Pro1864LeufsTer?) c.5495del (p.Pro1832LeufsTer?) c.5465del (p.Pro1822LeufsTer?) c.5390del (p.Pro1797LeufsTer?) c.5288del (p.Pro1763LeufsTer?) c.4919del (p.Pro1640LeufsTer?) | ClinVar |
| 5 | g.112841362C>A | CA16033952 | APC | c.5822C>A (p.Pro1941His) c.*5774C>A (n.*5774C>A) c.5714C>A (p.Pro1905His) c.5768C>A (p.Pro1923His) c.*5090C>A (n.*5090C>A) c.230+12390C>A c.5798C>A (p.Pro1933His) c.5693C>A (p.Pro1898His) c.5684C>A (p.Pro1895His) c.5645C>A (p.Pro1882His) c.5591C>A (p.Pro1864His) c.5495C>A (p.Pro1832His) c.5465C>A (p.Pro1822His) c.5390C>A (p.Pro1797His) c.5288C>A (p.Pro1763His) c.4919C>A (p.Pro1640His) | ClinVar dbSNP |
| 5 | g.112841362C= | CA1573478284 | APC | c.5822C= (p.Pro1941=) c.*5774C= (n.*5774C=) c.5714C= (p.Pro1905=) c.5768C= (p.Pro1923=) c.*5090C= (n.*5090C=) c.230+12390C= c.5798C= (p.Pro1933=) c.5693C= (p.Pro1898=) c.5684C= (p.Pro1895=) c.5645C= (p.Pro1882=) c.5591C= (p.Pro1864=) c.5495C= (p.Pro1832=) c.5465C= (p.Pro1822=) c.5390C= (p.Pro1797=) c.5288C= (p.Pro1763=) c.4919C= (p.Pro1640=) | |
| 5 | g.112841362C>G | CA16033953 | APC | c.5822C>G (p.Pro1941Arg) c.*5774C>G (n.*5774C>G) c.5714C>G (p.Pro1905Arg) c.5768C>G (p.Pro1923Arg) c.*5090C>G (n.*5090C>G) c.230+12390C>G c.5798C>G (p.Pro1933Arg) c.5693C>G (p.Pro1898Arg) c.5684C>G (p.Pro1895Arg) c.5645C>G (p.Pro1882Arg) c.5591C>G (p.Pro1864Arg) c.5495C>G (p.Pro1832Arg) c.5465C>G (p.Pro1822Arg) c.5390C>G (p.Pro1797Arg) c.5288C>G (p.Pro1763Arg) c.4919C>G (p.Pro1640Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841362C>T | CA16033954 | APC | c.5822C>T (p.Pro1941Leu) c.*5774C>T (n.*5774C>T) c.5714C>T (p.Pro1905Leu) c.5768C>T (p.Pro1923Leu) c.*5090C>T (n.*5090C>T) c.230+12390C>T c.5798C>T (p.Pro1933Leu) c.5693C>T (p.Pro1898Leu) c.5684C>T (p.Pro1895Leu) c.5645C>T (p.Pro1882Leu) c.5591C>T (p.Pro1864Leu) c.5495C>T (p.Pro1832Leu) c.5465C>T (p.Pro1822Leu) c.5390C>T (p.Pro1797Leu) c.5288C>T (p.Pro1763Leu) c.4919C>T (p.Pro1640Leu) | dbSNP |