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.112841306A= | CA1573477993 | APC | c.5766A= (p.Gln1922=) c.*5718A= (n.*5718A=) c.5658A= (p.Gln1886=) c.5712A= (p.Gln1904=) c.*5034A= (n.*5034A=) c.230+12334A= c.5742A= (p.Gln1914=) c.5637A= (p.Gln1879=) c.5628A= (p.Gln1876=) c.5589A= (p.Gln1863=) c.5535A= (p.Gln1845=) c.5439A= (p.Gln1813=) c.5409A= (p.Gln1803=) c.5334A= (p.Gln1778=) c.5232A= (p.Gln1744=) c.4863A= (p.Gln1621=) | |
| 5 | g.112841306A>C | CA16033835 | APC | c.5766A>C (p.Gln1922His) c.*5718A>C (n.*5718A>C) c.5658A>C (p.Gln1886His) c.5712A>C (p.Gln1904His) c.*5034A>C (n.*5034A>C) c.230+12334A>C c.5742A>C (p.Gln1914His) c.5637A>C (p.Gln1879His) c.5628A>C (p.Gln1876His) c.5589A>C (p.Gln1863His) c.5535A>C (p.Gln1845His) c.5439A>C (p.Gln1813His) c.5409A>C (p.Gln1803His) c.5334A>C (p.Gln1778His) c.5232A>C (p.Gln1744His) c.4863A>C (p.Gln1621His) | |
| 5 | g.112841306A>G | CA042729 | APC | c.5766A>G (p.Gln1922=) c.*5718A>G (n.*5718A>G) c.5658A>G (p.Gln1886=) c.5712A>G (p.Gln1904=) c.*5034A>G (n.*5034A>G) c.230+12334A>G c.5742A>G (p.Gln1914=) c.5637A>G (p.Gln1879=) c.5628A>G (p.Gln1876=) c.5589A>G (p.Gln1863=) c.5535A>G (p.Gln1845=) c.5439A>G (p.Gln1813=) c.5409A>G (p.Gln1803=) c.5334A>G (p.Gln1778=) c.5232A>G (p.Gln1744=) c.4863A>G (p.Gln1621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841306A>T | CA16033836 | APC | c.5766A>T (p.Gln1922His) c.*5718A>T (n.*5718A>T) c.5658A>T (p.Gln1886His) c.5712A>T (p.Gln1904His) c.*5034A>T (n.*5034A>T) c.230+12334A>T c.5742A>T (p.Gln1914His) c.5637A>T (p.Gln1879His) c.5628A>T (p.Gln1876His) c.5589A>T (p.Gln1863His) c.5535A>T (p.Gln1845His) c.5439A>T (p.Gln1813His) c.5409A>T (p.Gln1803His) c.5334A>T (p.Gln1778His) c.5232A>T (p.Gln1744His) c.4863A>T (p.Gln1621His) | |
| 5 | g.112841307C>A | CA16033837 | APC | c.5767C>A (p.Gln1923Lys) c.*5719C>A (n.*5719C>A) c.5659C>A (p.Gln1887Lys) c.5713C>A (p.Gln1905Lys) c.*5035C>A (n.*5035C>A) c.230+12335C>A c.5743C>A (p.Gln1915Lys) c.5638C>A (p.Gln1880Lys) c.5629C>A (p.Gln1877Lys) c.5590C>A (p.Gln1864Lys) c.5536C>A (p.Gln1846Lys) c.5440C>A (p.Gln1814Lys) c.5410C>A (p.Gln1804Lys) c.5335C>A (p.Gln1779Lys) c.5233C>A (p.Gln1745Lys) c.4864C>A (p.Gln1622Lys) | dbSNP |
| 5 | g.112841307C>G | CA16033838 | APC | c.5767C>G (p.Gln1923Glu) c.*5719C>G (n.*5719C>G) c.5659C>G (p.Gln1887Glu) c.5713C>G (p.Gln1905Glu) c.*5035C>G (n.*5035C>G) c.230+12335C>G c.5743C>G (p.Gln1915Glu) c.5638C>G (p.Gln1880Glu) c.5629C>G (p.Gln1877Glu) c.5590C>G (p.Gln1864Glu) c.5536C>G (p.Gln1846Glu) c.5440C>G (p.Gln1814Glu) c.5410C>G (p.Gln1804Glu) c.5335C>G (p.Gln1779Glu) c.5233C>G (p.Gln1745Glu) c.4864C>G (p.Gln1622Glu) | dbSNP |
| 5 | g.112841307C>T | CA16033839 | APC | c.5767C>T (p.Gln1923Ter) c.*5719C>T (n.*5719C>T) c.5659C>T (p.Gln1887Ter) c.5713C>T (p.Gln1905Ter) c.*5035C>T (n.*5035C>T) c.230+12335C>T c.5743C>T (p.Gln1915Ter) c.5638C>T (p.Gln1880Ter) c.5629C>T (p.Gln1877Ter) c.5590C>T (p.Gln1864Ter) c.5536C>T (p.Gln1846Ter) c.5440C>T (p.Gln1814Ter) c.5410C>T (p.Gln1804Ter) c.5335C>T (p.Gln1779Ter) c.5233C>T (p.Gln1745Ter) c.4864C>T (p.Gln1622Ter) | dbSNP |
| 5 | g.112841308A= | CA1573477999 | APC | c.5768A= (p.Gln1923=) c.*5720A= (n.*5720A=) c.5660A= (p.Gln1887=) c.5714A= (p.Gln1905=) c.*5036A= (n.*5036A=) c.230+12336A= c.5744A= (p.Gln1915=) c.5639A= (p.Gln1880=) c.5630A= (p.Gln1877=) c.5591A= (p.Gln1864=) c.5537A= (p.Gln1846=) c.5441A= (p.Gln1814=) c.5411A= (p.Gln1804=) c.5336A= (p.Gln1779=) c.5234A= (p.Gln1745=) c.4865A= (p.Gln1622=) | |
| 5 | g.112841308A>C | CA16033840 | APC | c.5768A>C (p.Gln1923Pro) c.*5720A>C (n.*5720A>C) c.5660A>C (p.Gln1887Pro) c.5714A>C (p.Gln1905Pro) c.*5036A>C (n.*5036A>C) c.230+12336A>C c.5744A>C (p.Gln1915Pro) c.5639A>C (p.Gln1880Pro) c.5630A>C (p.Gln1877Pro) c.5591A>C (p.Gln1864Pro) c.5537A>C (p.Gln1846Pro) c.5441A>C (p.Gln1814Pro) c.5411A>C (p.Gln1804Pro) c.5336A>C (p.Gln1779Pro) c.5234A>C (p.Gln1745Pro) c.4865A>C (p.Gln1622Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841308A>G | CA10578410 | APC | c.5768A>G (p.Gln1923Arg) c.*5720A>G (n.*5720A>G) c.5660A>G (p.Gln1887Arg) c.5714A>G (p.Gln1905Arg) c.*5036A>G (n.*5036A>G) c.230+12336A>G c.5744A>G (p.Gln1915Arg) c.5639A>G (p.Gln1880Arg) c.5630A>G (p.Gln1877Arg) c.5591A>G (p.Gln1864Arg) c.5537A>G (p.Gln1846Arg) c.5441A>G (p.Gln1814Arg) c.5411A>G (p.Gln1804Arg) c.5336A>G (p.Gln1779Arg) c.5234A>G (p.Gln1745Arg) c.4865A>G (p.Gln1622Arg) | ClinVar dbSNP |
| 5 | g.112841308A>T | CA16033841 | APC | c.5768A>T (p.Gln1923Leu) c.*5720A>T (n.*5720A>T) c.5660A>T (p.Gln1887Leu) c.5714A>T (p.Gln1905Leu) c.*5036A>T (n.*5036A>T) c.230+12336A>T c.5744A>T (p.Gln1915Leu) c.5639A>T (p.Gln1880Leu) c.5630A>T (p.Gln1877Leu) c.5591A>T (p.Gln1864Leu) c.5537A>T (p.Gln1846Leu) c.5441A>T (p.Gln1814Leu) c.5411A>T (p.Gln1804Leu) c.5336A>T (p.Gln1779Leu) c.5234A>T (p.Gln1745Leu) c.4865A>T (p.Gln1622Leu) | ClinVar dbSNP |
| 5 | g.112841309A= | CA1573478006 | APC | c.5769A= (p.Gln1923=) c.*5721A= (n.*5721A=) c.5661A= (p.Gln1887=) c.5715A= (p.Gln1905=) c.*5037A= (n.*5037A=) c.230+12337A= c.5745A= (p.Gln1915=) c.5640A= (p.Gln1880=) c.5631A= (p.Gln1877=) c.5592A= (p.Gln1864=) c.5538A= (p.Gln1846=) c.5442A= (p.Gln1814=) c.5412A= (p.Gln1804=) c.5337A= (p.Gln1779=) c.5235A= (p.Gln1745=) c.4866A= (p.Gln1622=) | |
| 5 | g.112841309A>C | CA16033842 | APC | c.5769A>C (p.Gln1923His) c.*5721A>C (n.*5721A>C) c.5661A>C (p.Gln1887His) c.5715A>C (p.Gln1905His) c.*5037A>C (n.*5037A>C) c.230+12337A>C c.5745A>C (p.Gln1915His) c.5640A>C (p.Gln1880His) c.5631A>C (p.Gln1877His) c.5592A>C (p.Gln1864His) c.5538A>C (p.Gln1846His) c.5442A>C (p.Gln1814His) c.5412A>C (p.Gln1804His) c.5337A>C (p.Gln1779His) c.5235A>C (p.Gln1745His) c.4866A>C (p.Gln1622His) | dbSNP |
| 5 | g.112841309A>G | CA010612 | APC | c.5769A>G (p.Gln1923=) c.*5721A>G (n.*5721A>G) c.5661A>G (p.Gln1887=) c.5715A>G (p.Gln1905=) c.*5037A>G (n.*5037A>G) c.230+12337A>G c.5745A>G (p.Gln1915=) c.5640A>G (p.Gln1880=) c.5631A>G (p.Gln1877=) c.5592A>G (p.Gln1864=) c.5538A>G (p.Gln1846=) c.5442A>G (p.Gln1814=) c.5412A>G (p.Gln1804=) c.5337A>G (p.Gln1779=) c.5235A>G (p.Gln1745=) c.4866A>G (p.Gln1622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841309A>T | CA16033843 | APC | c.5769A>T (p.Gln1923His) c.*5721A>T (n.*5721A>T) c.5661A>T (p.Gln1887His) c.5715A>T (p.Gln1905His) c.*5037A>T (n.*5037A>T) c.230+12337A>T c.5745A>T (p.Gln1915His) c.5640A>T (p.Gln1880His) c.5631A>T (p.Gln1877His) c.5592A>T (p.Gln1864His) c.5538A>T (p.Gln1846His) c.5442A>T (p.Gln1814His) c.5412A>T (p.Gln1804His) c.5337A>T (p.Gln1779His) c.5235A>T (p.Gln1745His) c.4866A>T (p.Gln1622His) | dbSNP |
| 5 | g.112841310T>A | CA16033844 | APC | c.5770T>A (p.Ser1924Thr) c.*5722T>A (n.*5722T>A) c.5662T>A (p.Ser1888Thr) c.5716T>A (p.Ser1906Thr) c.*5038T>A (n.*5038T>A) c.230+12338T>A c.5746T>A (p.Ser1916Thr) c.5641T>A (p.Ser1881Thr) c.5632T>A (p.Ser1878Thr) c.5593T>A (p.Ser1865Thr) c.5539T>A (p.Ser1847Thr) c.5443T>A (p.Ser1815Thr) c.5413T>A (p.Ser1805Thr) c.5338T>A (p.Ser1780Thr) c.5236T>A (p.Ser1746Thr) c.4867T>A (p.Ser1623Thr) | dbSNP |
| 5 | g.112841310T>C | CA16033845 | APC | c.5770T>C (p.Ser1924Pro) c.*5722T>C (n.*5722T>C) c.5662T>C (p.Ser1888Pro) c.5716T>C (p.Ser1906Pro) c.*5038T>C (n.*5038T>C) c.230+12338T>C c.5746T>C (p.Ser1916Pro) c.5641T>C (p.Ser1881Pro) c.5632T>C (p.Ser1878Pro) c.5593T>C (p.Ser1865Pro) c.5539T>C (p.Ser1847Pro) c.5443T>C (p.Ser1815Pro) c.5413T>C (p.Ser1805Pro) c.5338T>C (p.Ser1780Pro) c.5236T>C (p.Ser1746Pro) c.4867T>C (p.Ser1623Pro) | ClinVar dbSNP |
| 5 | g.112841310T>G | CA16033846 | APC | c.5770T>G (p.Ser1924Ala) c.*5722T>G (n.*5722T>G) c.5662T>G (p.Ser1888Ala) c.5716T>G (p.Ser1906Ala) c.*5038T>G (n.*5038T>G) c.230+12338T>G c.5746T>G (p.Ser1916Ala) c.5641T>G (p.Ser1881Ala) c.5632T>G (p.Ser1878Ala) c.5593T>G (p.Ser1865Ala) c.5539T>G (p.Ser1847Ala) c.5443T>G (p.Ser1815Ala) c.5413T>G (p.Ser1805Ala) c.5338T>G (p.Ser1780Ala) c.5236T>G (p.Ser1746Ala) c.4867T>G (p.Ser1623Ala) | |
| 5 | g.112841311C>A | CA16033847 | APC | c.5771C>A (p.Ser1924Ter) c.*5723C>A (n.*5723C>A) c.5663C>A (p.Ser1888Ter) c.5717C>A (p.Ser1906Ter) c.*5039C>A (n.*5039C>A) c.230+12339C>A c.5747C>A (p.Ser1916Ter) c.5642C>A (p.Ser1881Ter) c.5633C>A (p.Ser1878Ter) c.5594C>A (p.Ser1865Ter) c.5540C>A (p.Ser1847Ter) c.5444C>A (p.Ser1815Ter) c.5414C>A (p.Ser1805Ter) c.5339C>A (p.Ser1780Ter) c.5237C>A (p.Ser1746Ter) c.4868C>A (p.Ser1623Ter) | dbSNP |
| 5 | g.112841311C>G | CA16033848 | APC | c.5771C>G (p.Ser1924Ter) c.*5723C>G (n.*5723C>G) c.5663C>G (p.Ser1888Ter) c.5717C>G (p.Ser1906Ter) c.*5039C>G (n.*5039C>G) c.230+12339C>G c.5747C>G (p.Ser1916Ter) c.5642C>G (p.Ser1881Ter) c.5633C>G (p.Ser1878Ter) c.5594C>G (p.Ser1865Ter) c.5540C>G (p.Ser1847Ter) c.5444C>G (p.Ser1815Ter) c.5414C>G (p.Ser1805Ter) c.5339C>G (p.Ser1780Ter) c.5237C>G (p.Ser1746Ter) c.4868C>G (p.Ser1623Ter) | ClinVar dbSNP |
| 5 | g.112841311C>T | CA16033849 | APC | c.5771C>T (p.Ser1924Leu) c.*5723C>T (n.*5723C>T) c.5663C>T (p.Ser1888Leu) c.5717C>T (p.Ser1906Leu) c.*5039C>T (n.*5039C>T) c.230+12339C>T c.5747C>T (p.Ser1916Leu) c.5642C>T (p.Ser1881Leu) c.5633C>T (p.Ser1878Leu) c.5594C>T (p.Ser1865Leu) c.5540C>T (p.Ser1847Leu) c.5444C>T (p.Ser1815Leu) c.5414C>T (p.Ser1805Leu) c.5339C>T (p.Ser1780Leu) c.5237C>T (p.Ser1746Leu) c.4868C>T (p.Ser1623Leu) | dbSNP |
| 5 | g.112841311_112841312delinsCA | CA1573478010 | APC | c.5771_5772delinsCA (p.Ser1924=) c.*5723_*5724delinsCA (n.*5723_*5724delinsCA) c.5663_5664delinsCA (p.Ser1888=) c.5717_5718delinsCA (p.Ser1906=) c.*5039_*5040delinsCA (n.*5039_*5040delinsCA) c.230+12339_230+12340delinsCA c.5747_5748delinsCA (p.Ser1916=) c.5642_5643delinsCA (p.Ser1881=) c.5633_5634delinsCA (p.Ser1878=) c.5594_5595delinsCA (p.Ser1865=) c.5540_5541delinsCA (p.Ser1847=) c.5444_5445delinsCA (p.Ser1815=) c.5414_5415delinsCA (p.Ser1805=) c.5339_5340delinsCA (p.Ser1780=) c.5237_5238delinsCA (p.Ser1746=) c.4868_4869delinsCA (p.Ser1623=) | |
| 5 | g.112841312del | CA658796578 | APC | c.5772del (p.Ala1925LeufsTer12) c.*5724del (n.*5724del) c.5664del (p.Ala1889LeufsTer12) c.5718del (p.Ala1907LeufsTer12) c.*5040del (n.*5040del) c.230+12340del c.5748del (p.Ala1917LeufsTer12) c.5643del (p.Ala1882LeufsTer12) c.5634del (p.Ala1879LeufsTer12) c.5595del (p.Ala1866LeufsTer12) c.5541del (p.Ala1848LeufsTer12) c.5445del (p.Ala1816LeufsTer12) c.5415del (p.Ala1806LeufsTer12) c.5340del (p.Ala1781LeufsTer12) c.5238del (p.Ala1747LeufsTer12) c.4869del (p.Ala1624LeufsTer12) | ClinVar dbSNP |
| 5 | g.112841312A= | CA1573478020 | APC | c.5772A= (p.Ser1924=) c.*5724A= (n.*5724A=) c.5664A= (p.Ser1888=) c.5718A= (p.Ser1906=) c.*5040A= (n.*5040A=) c.230+12340A= c.5748A= (p.Ser1916=) c.5643A= (p.Ser1881=) c.5634A= (p.Ser1878=) c.5595A= (p.Ser1865=) c.5541A= (p.Ser1847=) c.5445A= (p.Ser1815=) c.5415A= (p.Ser1805=) c.5340A= (p.Ser1780=) c.5238A= (p.Ser1746=) c.4869A= (p.Ser1623=) | |
| 5 | g.112841312A>C | CA446209390 | APC | c.5772A>C (p.Ser1924=) c.*5724A>C (n.*5724A>C) c.5664A>C (p.Ser1888=) c.5718A>C (p.Ser1906=) c.*5040A>C (n.*5040A>C) c.230+12340A>C c.5748A>C (p.Ser1916=) c.5643A>C (p.Ser1881=) c.5634A>C (p.Ser1878=) c.5595A>C (p.Ser1865=) c.5541A>C (p.Ser1847=) c.5445A>C (p.Ser1815=) c.5415A>C (p.Ser1805=) c.5340A>C (p.Ser1780=) c.5238A>C (p.Ser1746=) c.4869A>C (p.Ser1623=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112841312A>G | CA16611846 | APC | c.5772A>G (p.Ser1924=) c.*5724A>G (n.*5724A>G) c.5664A>G (p.Ser1888=) c.5718A>G (p.Ser1906=) c.*5040A>G (n.*5040A>G) c.230+12340A>G c.5748A>G (p.Ser1916=) c.5643A>G (p.Ser1881=) c.5634A>G (p.Ser1878=) c.5595A>G (p.Ser1865=) c.5541A>G (p.Ser1847=) c.5445A>G (p.Ser1815=) c.5415A>G (p.Ser1805=) c.5340A>G (p.Ser1780=) c.5238A>G (p.Ser1746=) c.4869A>G (p.Ser1623=) | ClinVar dbSNP |
| 5 | g.112841312A>T | CA446209391 | APC | c.5772A>T (p.Ser1924=) c.*5724A>T (n.*5724A>T) c.5664A>T (p.Ser1888=) c.5718A>T (p.Ser1906=) c.*5040A>T (n.*5040A>T) c.230+12340A>T c.5748A>T (p.Ser1916=) c.5643A>T (p.Ser1881=) c.5634A>T (p.Ser1878=) c.5595A>T (p.Ser1865=) c.5541A>T (p.Ser1847=) c.5445A>T (p.Ser1815=) c.5415A>T (p.Ser1805=) c.5340A>T (p.Ser1780=) c.5238A>T (p.Ser1746=) c.4869A>T (p.Ser1623=) | dbSNP |
| 5 | g.112841313G>A | CA16033850 | APC | c.5773G>A (p.Ala1925Thr) c.*5725G>A (n.*5725G>A) c.5665G>A (p.Ala1889Thr) c.5719G>A (p.Ala1907Thr) c.*5041G>A (n.*5041G>A) c.230+12341G>A c.5749G>A (p.Ala1917Thr) c.5644G>A (p.Ala1882Thr) c.5635G>A (p.Ala1879Thr) c.5596G>A (p.Ala1866Thr) c.5542G>A (p.Ala1848Thr) c.5446G>A (p.Ala1816Thr) c.5416G>A (p.Ala1806Thr) c.5341G>A (p.Ala1781Thr) c.5239G>A (p.Ala1747Thr) c.4870G>A (p.Ala1624Thr) | dbSNP |
| 5 | g.112841313G>C | CA16033851 | APC | c.5773G>C (p.Ala1925Pro) c.*5725G>C (n.*5725G>C) c.5665G>C (p.Ala1889Pro) c.5719G>C (p.Ala1907Pro) c.*5041G>C (n.*5041G>C) c.230+12341G>C c.5749G>C (p.Ala1917Pro) c.5644G>C (p.Ala1882Pro) c.5635G>C (p.Ala1879Pro) c.5596G>C (p.Ala1866Pro) c.5542G>C (p.Ala1848Pro) c.5446G>C (p.Ala1816Pro) c.5416G>C (p.Ala1806Pro) c.5341G>C (p.Ala1781Pro) c.5239G>C (p.Ala1747Pro) c.4870G>C (p.Ala1624Pro) | dbSNP |
| 5 | g.112841313G>T | CA16033852 | APC | c.5773G>T (p.Ala1925Ser) c.*5725G>T (n.*5725G>T) c.5665G>T (p.Ala1889Ser) c.5719G>T (p.Ala1907Ser) c.*5041G>T (n.*5041G>T) c.230+12341G>T c.5749G>T (p.Ala1917Ser) c.5644G>T (p.Ala1882Ser) c.5635G>T (p.Ala1879Ser) c.5596G>T (p.Ala1866Ser) c.5542G>T (p.Ala1848Ser) c.5446G>T (p.Ala1816Ser) c.5416G>T (p.Ala1806Ser) c.5341G>T (p.Ala1781Ser) c.5239G>T (p.Ala1747Ser) c.4870G>T (p.Ala1624Ser) | dbSNP COSMIC |
| 5 | g.112841314C>A | CA16033853 | APC | c.5774C>A (p.Ala1925Asp) c.*5726C>A (n.*5726C>A) c.5666C>A (p.Ala1889Asp) c.5720C>A (p.Ala1907Asp) c.*5042C>A (n.*5042C>A) c.230+12342C>A c.5750C>A (p.Ala1917Asp) c.5645C>A (p.Ala1882Asp) c.5636C>A (p.Ala1879Asp) c.5597C>A (p.Ala1866Asp) c.5543C>A (p.Ala1848Asp) c.5447C>A (p.Ala1816Asp) c.5417C>A (p.Ala1806Asp) c.5342C>A (p.Ala1781Asp) c.5240C>A (p.Ala1747Asp) c.4871C>A (p.Ala1624Asp) | ClinVar dbSNP |
| 5 | g.112841314C= | CA1573478034 | APC | c.5774C= (p.Ala1925=) c.*5726C= (n.*5726C=) c.5666C= (p.Ala1889=) c.5720C= (p.Ala1907=) c.*5042C= (n.*5042C=) c.230+12342C= c.5750C= (p.Ala1917=) c.5645C= (p.Ala1882=) c.5636C= (p.Ala1879=) c.5597C= (p.Ala1866=) c.5543C= (p.Ala1848=) c.5447C= (p.Ala1816=) c.5417C= (p.Ala1806=) c.5342C= (p.Ala1781=) c.5240C= (p.Ala1747=) c.4871C= (p.Ala1624=) | |
| 5 | g.112841314C>G | CA16033854 | APC | c.5774C>G (p.Ala1925Gly) c.*5726C>G (n.*5726C>G) c.5666C>G (p.Ala1889Gly) c.5720C>G (p.Ala1907Gly) c.*5042C>G (n.*5042C>G) c.230+12342C>G c.5750C>G (p.Ala1917Gly) c.5645C>G (p.Ala1882Gly) c.5636C>G (p.Ala1879Gly) c.5597C>G (p.Ala1866Gly) c.5543C>G (p.Ala1848Gly) c.5447C>G (p.Ala1816Gly) c.5417C>G (p.Ala1806Gly) c.5342C>G (p.Ala1781Gly) c.5240C>G (p.Ala1747Gly) c.4871C>G (p.Ala1624Gly) | ClinVar dbSNP |
| 5 | g.112841314C>T | CA042757 | APC | c.5774C>T (p.Ala1925Val) c.*5726C>T (n.*5726C>T) c.5666C>T (p.Ala1889Val) c.5720C>T (p.Ala1907Val) c.*5042C>T (n.*5042C>T) c.230+12342C>T c.5750C>T (p.Ala1917Val) c.5645C>T (p.Ala1882Val) c.5636C>T (p.Ala1879Val) c.5597C>T (p.Ala1866Val) c.5543C>T (p.Ala1848Val) c.5447C>T (p.Ala1816Val) c.5417C>T (p.Ala1806Val) c.5342C>T (p.Ala1781Val) c.5240C>T (p.Ala1747Val) c.4871C>T (p.Ala1624Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.112841315T>A | CA446209392 | APC | c.5775T>A (p.Ala1925=) c.*5727T>A (n.*5727T>A) c.5667T>A (p.Ala1889=) c.5721T>A (p.Ala1907=) c.*5043T>A (n.*5043T>A) c.230+12343T>A c.5751T>A (p.Ala1917=) c.5646T>A (p.Ala1882=) c.5637T>A (p.Ala1879=) c.5598T>A (p.Ala1866=) c.5544T>A (p.Ala1848=) c.5448T>A (p.Ala1816=) c.5418T>A (p.Ala1806=) c.5343T>A (p.Ala1781=) c.5241T>A (p.Ala1747=) c.4872T>A (p.Ala1624=) | ClinVar dbSNP |
| 5 | g.112841315T>C | CA446209393 | APC | c.5775T>C (p.Ala1925=) c.*5727T>C (n.*5727T>C) c.5667T>C (p.Ala1889=) c.5721T>C (p.Ala1907=) c.*5043T>C (n.*5043T>C) c.230+12343T>C c.5751T>C (p.Ala1917=) c.5646T>C (p.Ala1882=) c.5637T>C (p.Ala1879=) c.5598T>C (p.Ala1866=) c.5544T>C (p.Ala1848=) c.5448T>C (p.Ala1816=) c.5418T>C (p.Ala1806=) c.5343T>C (p.Ala1781=) c.5241T>C (p.Ala1747=) c.4872T>C (p.Ala1624=) | |
| 5 | g.112841315T>G | CA446209394 | APC | c.5775T>G (p.Ala1925=) c.*5727T>G (n.*5727T>G) c.5667T>G (p.Ala1889=) c.5721T>G (p.Ala1907=) c.*5043T>G (n.*5043T>G) c.230+12343T>G c.5751T>G (p.Ala1917=) c.5646T>G (p.Ala1882=) c.5637T>G (p.Ala1879=) c.5598T>G (p.Ala1866=) c.5544T>G (p.Ala1848=) c.5448T>G (p.Ala1816=) c.5418T>G (p.Ala1806=) c.5343T>G (p.Ala1781=) c.5241T>G (p.Ala1747=) c.4872T>G (p.Ala1624=) | |
| 5 | g.112841316A>C | CA16033855 | APC | c.5776A>C (p.Asn1926His) c.*5728A>C (n.*5728A>C) c.5668A>C (p.Asn1890His) c.5722A>C (p.Asn1908His) c.*5044A>C (n.*5044A>C) c.230+12344A>C c.5752A>C (p.Asn1918His) c.5647A>C (p.Asn1883His) c.5638A>C (p.Asn1880His) c.5599A>C (p.Asn1867His) c.5545A>C (p.Asn1849His) c.5449A>C (p.Asn1817His) c.5419A>C (p.Asn1807His) c.5344A>C (p.Asn1782His) c.5242A>C (p.Asn1748His) c.4873A>C (p.Asn1625His) | ClinVar |
| 5 | g.112841316A>G | CA16033856 | APC | c.5776A>G (p.Asn1926Asp) c.*5728A>G (n.*5728A>G) c.5668A>G (p.Asn1890Asp) c.5722A>G (p.Asn1908Asp) c.*5044A>G (n.*5044A>G) c.230+12344A>G c.5752A>G (p.Asn1918Asp) c.5647A>G (p.Asn1883Asp) c.5638A>G (p.Asn1880Asp) c.5599A>G (p.Asn1867Asp) c.5545A>G (p.Asn1849Asp) c.5449A>G (p.Asn1817Asp) c.5419A>G (p.Asn1807Asp) c.5344A>G (p.Asn1782Asp) c.5242A>G (p.Asn1748Asp) c.4873A>G (p.Asn1625Asp) | COSMIC |
| 5 | g.112841316A>T | CA16033857 | APC | c.5776A>T (p.Asn1926Tyr) c.*5728A>T (n.*5728A>T) c.5668A>T (p.Asn1890Tyr) c.5722A>T (p.Asn1908Tyr) c.*5044A>T (n.*5044A>T) c.230+12344A>T c.5752A>T (p.Asn1918Tyr) c.5647A>T (p.Asn1883Tyr) c.5638A>T (p.Asn1880Tyr) c.5599A>T (p.Asn1867Tyr) c.5545A>T (p.Asn1849Tyr) c.5449A>T (p.Asn1817Tyr) c.5419A>T (p.Asn1807Tyr) c.5344A>T (p.Asn1782Tyr) c.5242A>T (p.Asn1748Tyr) c.4873A>T (p.Asn1625Tyr) | dbSNP |
| 5 | g.112841317A= | CA1573478039 | APC | c.5777A= (p.Asn1926=) c.*5729A= (n.*5729A=) c.5669A= (p.Asn1890=) c.5723A= (p.Asn1908=) c.*5045A= (n.*5045A=) c.230+12345A= c.5753A= (p.Asn1918=) c.5648A= (p.Asn1883=) c.5639A= (p.Asn1880=) c.5600A= (p.Asn1867=) c.5546A= (p.Asn1849=) c.5450A= (p.Asn1817=) c.5420A= (p.Asn1807=) c.5345A= (p.Asn1782=) c.5243A= (p.Asn1748=) c.4874A= (p.Asn1625=) | |
| 5 | g.112841317A>C | CA16033858 | APC | c.5777A>C (p.Asn1926Thr) c.*5729A>C (n.*5729A>C) c.5669A>C (p.Asn1890Thr) c.5723A>C (p.Asn1908Thr) c.*5045A>C (n.*5045A>C) c.230+12345A>C c.5753A>C (p.Asn1918Thr) c.5648A>C (p.Asn1883Thr) c.5639A>C (p.Asn1880Thr) c.5600A>C (p.Asn1867Thr) c.5546A>C (p.Asn1849Thr) c.5450A>C (p.Asn1817Thr) c.5420A>C (p.Asn1807Thr) c.5345A>C (p.Asn1782Thr) c.5243A>C (p.Asn1748Thr) c.4874A>C (p.Asn1625Thr) | |
| 5 | g.112841317A>G | CA16033859 | APC | c.5777A>G (p.Asn1926Ser) c.*5729A>G (n.*5729A>G) c.5669A>G (p.Asn1890Ser) c.5723A>G (p.Asn1908Ser) c.*5045A>G (n.*5045A>G) c.230+12345A>G c.5753A>G (p.Asn1918Ser) c.5648A>G (p.Asn1883Ser) c.5639A>G (p.Asn1880Ser) c.5600A>G (p.Asn1867Ser) c.5546A>G (p.Asn1849Ser) c.5450A>G (p.Asn1817Ser) c.5420A>G (p.Asn1807Ser) c.5345A>G (p.Asn1782Ser) c.5243A>G (p.Asn1748Ser) c.4874A>G (p.Asn1625Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841317A>T | CA16033860 | APC | c.5777A>T (p.Asn1926Ile) c.*5729A>T (n.*5729A>T) c.5669A>T (p.Asn1890Ile) c.5723A>T (p.Asn1908Ile) c.*5045A>T (n.*5045A>T) c.230+12345A>T c.5753A>T (p.Asn1918Ile) c.5648A>T (p.Asn1883Ile) c.5639A>T (p.Asn1880Ile) c.5600A>T (p.Asn1867Ile) c.5546A>T (p.Asn1849Ile) c.5450A>T (p.Asn1817Ile) c.5420A>T (p.Asn1807Ile) c.5345A>T (p.Asn1782Ile) c.5243A>T (p.Asn1748Ile) c.4874A>T (p.Asn1625Ile) | dbSNP |
| 5 | g.112841318T>A | CA16033861 | APC | c.5778T>A (p.Asn1926Lys) c.*5730T>A (n.*5730T>A) c.5670T>A (p.Asn1890Lys) c.5724T>A (p.Asn1908Lys) c.*5046T>A (n.*5046T>A) c.230+12346T>A c.5754T>A (p.Asn1918Lys) c.5649T>A (p.Asn1883Lys) c.5640T>A (p.Asn1880Lys) c.5601T>A (p.Asn1867Lys) c.5547T>A (p.Asn1849Lys) c.5451T>A (p.Asn1817Lys) c.5421T>A (p.Asn1807Lys) c.5346T>A (p.Asn1782Lys) c.5244T>A (p.Asn1748Lys) c.4875T>A (p.Asn1625Lys) | |
| 5 | g.112841318T>C | CA446209395 | APC | c.5778T>C (p.Asn1926=) c.*5730T>C (n.*5730T>C) c.5670T>C (p.Asn1890=) c.5724T>C (p.Asn1908=) c.*5046T>C (n.*5046T>C) c.230+12346T>C c.5754T>C (p.Asn1918=) c.5649T>C (p.Asn1883=) c.5640T>C (p.Asn1880=) c.5601T>C (p.Asn1867=) c.5547T>C (p.Asn1849=) c.5451T>C (p.Asn1817=) c.5421T>C (p.Asn1807=) c.5346T>C (p.Asn1782=) c.5244T>C (p.Asn1748=) c.4875T>C (p.Asn1625=) | ClinVar dbSNP |
| 5 | g.112841318T>G | CA16033862 | APC | c.5778T>G (p.Asn1926Lys) c.*5730T>G (n.*5730T>G) c.5670T>G (p.Asn1890Lys) c.5724T>G (p.Asn1908Lys) c.*5046T>G (n.*5046T>G) c.230+12346T>G c.5754T>G (p.Asn1918Lys) c.5649T>G (p.Asn1883Lys) c.5640T>G (p.Asn1880Lys) c.5601T>G (p.Asn1867Lys) c.5547T>G (p.Asn1849Lys) c.5451T>G (p.Asn1817Lys) c.5421T>G (p.Asn1807Lys) c.5346T>G (p.Asn1782Lys) c.5244T>G (p.Asn1748Lys) c.4875T>G (p.Asn1625Lys) | ClinVar |
| 5 | g.112841319A= | CA1573478048 | APC | c.5779A= (p.Lys1927=) c.*5731A= (n.*5731A=) c.5671A= (p.Lys1891=) c.5725A= (p.Lys1909=) c.*5047A= (n.*5047A=) c.230+12347A= c.5755A= (p.Lys1919=) c.5650A= (p.Lys1884=) c.5641A= (p.Lys1881=) c.5602A= (p.Lys1868=) c.5548A= (p.Lys1850=) c.5452A= (p.Lys1818=) c.5422A= (p.Lys1808=) c.5347A= (p.Lys1783=) c.5245A= (p.Lys1749=) c.4876A= (p.Lys1626=) | |
| 5 | g.112841319A>C | CA16033863 | APC | c.5779A>C (p.Lys1927Gln) c.*5731A>C (n.*5731A>C) c.5671A>C (p.Lys1891Gln) c.5725A>C (p.Lys1909Gln) c.*5047A>C (n.*5047A>C) c.230+12347A>C c.5755A>C (p.Lys1919Gln) c.5650A>C (p.Lys1884Gln) c.5641A>C (p.Lys1881Gln) c.5602A>C (p.Lys1868Gln) c.5548A>C (p.Lys1850Gln) c.5452A>C (p.Lys1818Gln) c.5422A>C (p.Lys1808Gln) c.5347A>C (p.Lys1783Gln) c.5245A>C (p.Lys1749Gln) c.4876A>C (p.Lys1626Gln) | dbSNP |