WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839169_112841264del | CA645543580 | APC | c.3629_5724del (p.Lys1210ArgfsTer3) c.*3581_*5676del (n.*3581_*5676del) c.3521_5616del (p.Lys1174ArgfsTer3) c.3575_5670del (p.Lys1192ArgfsTer3) c.*2897_*4992del (n.*2897_*4992del) c.230+10197_230+12292del c.3605_5700del (p.Lys1202ArgfsTer3) c.3500_5595del (p.Lys1167ArgfsTer3) c.3491_5586del (p.Lys1164ArgfsTer3) c.3452_5547del (p.Lys1151ArgfsTer3) c.3398_5493del (p.Lys1133ArgfsTer3) c.3302_5397del (p.Lys1101ArgfsTer3) c.3272_5367del (p.Lys1091ArgfsTer3) c.3197_5292del (p.Lys1066ArgfsTer3) c.3095_5190del (p.Lys1032ArgfsTer3) c.2726_4821del (p.Lys909ArgfsTer3) | COSMIC |
| 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.112841188_112841211dup | CA915943500 | APC | c.5648_5671dup (p.Val1890_Asp1891insValAspPheAspAspAspAspVal) c.*5600_*5623dup (n.*5600_*5623dup) c.5540_5563dup (p.Val1854_Asp1855insValAspPheAspAspAspAspVal) c.5594_5617dup (p.Val1872_Asp1873insValAspPheAspAspAspAspVal) c.*4916_*4939dup (n.*4916_*4939dup) c.230+12216_230+12239dup c.5624_5647dup (p.Val1882_Asp1883insValAspPheAspAspAspAspVal) c.5519_5542dup (p.Val1847_Asp1848insValAspPheAspAspAspAspVal) c.5510_5533dup (p.Val1844_Asp1845insValAspPheAspAspAspAspVal) c.5471_5494dup (p.Val1831_Asp1832insValAspPheAspAspAspAspVal) c.5417_5440dup (p.Val1813_Asp1814insValAspPheAspAspAspAspVal) c.5321_5344dup (p.Val1781_Asp1782insValAspPheAspAspAspAspVal) c.5291_5314dup (p.Val1771_Asp1772insValAspPheAspAspAspAspVal) c.5216_5239dup (p.Val1746_Asp1747insValAspPheAspAspAspAspVal) c.5114_5137dup (p.Val1712_Asp1713insValAspPheAspAspAspAspVal) c.4745_4768dup (p.Val1589_Asp1590insValAspPheAspAspAspAspVal) | ClinVar dbSNP |
| 5 | g.112841206_112841208dup | CA042335 | APC | c.5666_5668dup (p.Asp1889_Val1890insAsp) c.*5618_*5620dup (n.*5618_*5620dup) c.5558_5560dup (p.Asp1853_Val1854insAsp) c.5612_5614dup (p.Asp1871_Val1872insAsp) c.*4934_*4936dup (n.*4934_*4936dup) c.230+12234_230+12236dup c.5642_5644dup (p.Asp1881_Val1882insAsp) c.5537_5539dup (p.Asp1846_Val1847insAsp) c.5528_5530dup (p.Asp1843_Val1844insAsp) c.5489_5491dup (p.Asp1830_Val1831insAsp) c.5435_5437dup (p.Asp1812_Val1813insAsp) c.5339_5341dup (p.Asp1780_Val1781insAsp) c.5309_5311dup (p.Asp1770_Val1771insAsp) c.5234_5236dup (p.Asp1745_Val1746insAsp) c.5132_5134dup (p.Asp1711_Val1712insAsp) c.4763_4765dup (p.Asp1588_Val1589insAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112841206_112841208del | CA562217609 | APC | c.5666_5668del (p.Asp1889del) c.*5618_*5620del (n.*5618_*5620del) c.5558_5560del (p.Asp1853del) c.5612_5614del (p.Asp1871del) c.*4934_*4936del (n.*4934_*4936del) c.230+12234_230+12236del c.5642_5644del (p.Asp1881del) c.5537_5539del (p.Asp1846del) c.5528_5530del (p.Asp1843del) c.5489_5491del (p.Asp1830del) c.5435_5437del (p.Asp1812del) c.5339_5341del (p.Asp1780del) c.5309_5311del (p.Asp1770del) c.5234_5236del (p.Asp1745del) c.5132_5134del (p.Asp1711del) c.4763_4765del (p.Asp1588del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841203_112841208del | CA1573477357 | APC | c.5663_5668del (p.Asp1888_Asp1889del) c.*5615_*5620del (n.*5615_*5620del) c.5555_5560del (p.Asp1852_Asp1853del) c.5609_5614del (p.Asp1870_Asp1871del) c.*4931_*4936del (n.*4931_*4936del) c.230+12231_230+12236del c.5639_5644del (p.Asp1880_Asp1881del) c.5534_5539del (p.Asp1845_Asp1846del) c.5525_5530del (p.Asp1842_Asp1843del) c.5486_5491del (p.Asp1829_Asp1830del) c.5432_5437del (p.Asp1811_Asp1812del) c.5336_5341del (p.Asp1779_Asp1780del) c.5306_5311del (p.Asp1769_Asp1770del) c.5231_5236del (p.Asp1744_Asp1745del) c.5129_5134del (p.Asp1710_Asp1711del) c.4760_4765del (p.Asp1587_Asp1588del) | ClinVar dbSNP |
| 5 | g.112841206A= | CA1573477416 | APC | c.5666A= (p.Asp1889=) c.*5618A= (n.*5618A=) c.5558A= (p.Asp1853=) c.5612A= (p.Asp1871=) c.*4934A= (n.*4934A=) c.230+12234A= c.5642A= (p.Asp1881=) c.5537A= (p.Asp1846=) c.5528A= (p.Asp1843=) c.5489A= (p.Asp1830=) c.5435A= (p.Asp1812=) c.5339A= (p.Asp1780=) c.5309A= (p.Asp1770=) c.5234A= (p.Asp1745=) c.5132A= (p.Asp1711=) c.4763A= (p.Asp1588=) | |
| 5 | g.112841206A>C | CA16033614 | APC | c.5666A>C (p.Asp1889Ala) c.*5618A>C (n.*5618A>C) c.5558A>C (p.Asp1853Ala) c.5612A>C (p.Asp1871Ala) c.*4934A>C (n.*4934A>C) c.230+12234A>C c.5642A>C (p.Asp1881Ala) c.5537A>C (p.Asp1846Ala) c.5528A>C (p.Asp1843Ala) c.5489A>C (p.Asp1830Ala) c.5435A>C (p.Asp1812Ala) c.5339A>C (p.Asp1780Ala) c.5309A>C (p.Asp1770Ala) c.5234A>C (p.Asp1745Ala) c.5132A>C (p.Asp1711Ala) c.4763A>C (p.Asp1588Ala) | |
| 5 | g.112841206A>G | CA16033615 | APC | c.5666A>G (p.Asp1889Gly) c.*5618A>G (n.*5618A>G) c.5558A>G (p.Asp1853Gly) c.5612A>G (p.Asp1871Gly) c.*4934A>G (n.*4934A>G) c.230+12234A>G c.5642A>G (p.Asp1881Gly) c.5537A>G (p.Asp1846Gly) c.5528A>G (p.Asp1843Gly) c.5489A>G (p.Asp1830Gly) c.5435A>G (p.Asp1812Gly) c.5339A>G (p.Asp1780Gly) c.5309A>G (p.Asp1770Gly) c.5234A>G (p.Asp1745Gly) c.5132A>G (p.Asp1711Gly) c.4763A>G (p.Asp1588Gly) | ClinVar gnomAD v4 |
| 5 | g.112841206A>T | CA16033616 | APC | c.5666A>T (p.Asp1889Val) c.*5618A>T (n.*5618A>T) c.5558A>T (p.Asp1853Val) c.5612A>T (p.Asp1871Val) c.*4934A>T (n.*4934A>T) c.230+12234A>T c.5642A>T (p.Asp1881Val) c.5537A>T (p.Asp1846Val) c.5528A>T (p.Asp1843Val) c.5489A>T (p.Asp1830Val) c.5435A>T (p.Asp1812Val) c.5339A>T (p.Asp1780Val) c.5309A>T (p.Asp1770Val) c.5234A>T (p.Asp1745Val) c.5132A>T (p.Asp1711Val) c.4763A>T (p.Asp1588Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841206_112841209delinsATGT | CA1573477419 | APC | c.5666_5669delinsATGT (p.Asp1889=) c.*5618_*5621delinsATGT (n.*5618_*5621delinsATGT) c.5558_5561delinsATGT (p.Asp1853=) c.5612_5615delinsATGT (p.Asp1871=) c.*4934_*4937delinsATGT (n.*4934_*4937delinsATGT) c.230+12234_230+12237delinsATGT c.5642_5645delinsATGT (p.Asp1881=) c.5537_5540delinsATGT (p.Asp1846=) c.5528_5531delinsATGT (p.Asp1843=) c.5489_5492delinsATGT (p.Asp1830=) c.5435_5438delinsATGT (p.Asp1812=) c.5339_5342delinsATGT (p.Asp1780=) c.5309_5312delinsATGT (p.Asp1770=) c.5234_5237delinsATGT (p.Asp1745=) c.5132_5135delinsATGT (p.Asp1711=) c.4763_4766delinsATGT (p.Asp1588=) | |
| 5 | g.112841207T>A | CA16033617 | APC | c.5667T>A (p.Asp1889Glu) c.*5619T>A (n.*5619T>A) c.5559T>A (p.Asp1853Glu) c.5613T>A (p.Asp1871Glu) c.*4935T>A (n.*4935T>A) c.230+12235T>A c.5643T>A (p.Asp1881Glu) c.5538T>A (p.Asp1846Glu) c.5529T>A (p.Asp1843Glu) c.5490T>A (p.Asp1830Glu) c.5436T>A (p.Asp1812Glu) c.5340T>A (p.Asp1780Glu) c.5310T>A (p.Asp1770Glu) c.5235T>A (p.Asp1745Glu) c.5133T>A (p.Asp1711Glu) c.4764T>A (p.Asp1588Glu) | dbSNP |
| 5 | g.112841207T>C | CA446208968 | APC | c.5667T>C (p.Asp1889=) c.*5619T>C (n.*5619T>C) c.5559T>C (p.Asp1853=) c.5613T>C (p.Asp1871=) c.*4935T>C (n.*4935T>C) c.230+12235T>C c.5643T>C (p.Asp1881=) c.5538T>C (p.Asp1846=) c.5529T>C (p.Asp1843=) c.5490T>C (p.Asp1830=) c.5436T>C (p.Asp1812=) c.5340T>C (p.Asp1780=) c.5310T>C (p.Asp1770=) c.5235T>C (p.Asp1745=) c.5133T>C (p.Asp1711=) c.4764T>C (p.Asp1588=) | |
| 5 | g.112841207T>G | CA16033618 | APC | c.5667T>G (p.Asp1889Glu) c.*5619T>G (n.*5619T>G) c.5559T>G (p.Asp1853Glu) c.5613T>G (p.Asp1871Glu) c.*4935T>G (n.*4935T>G) c.230+12235T>G c.5643T>G (p.Asp1881Glu) c.5538T>G (p.Asp1846Glu) c.5529T>G (p.Asp1843Glu) c.5490T>G (p.Asp1830Glu) c.5436T>G (p.Asp1812Glu) c.5340T>G (p.Asp1780Glu) c.5310T>G (p.Asp1770Glu) c.5235T>G (p.Asp1745Glu) c.5133T>G (p.Asp1711Glu) c.4764T>G (p.Asp1588Glu) | |
| 5 | g.112841209_112841211del | CA915943501 | APC | c.5669_5671del (p.Val1890del) c.*5621_*5623del (n.*5621_*5623del) c.5561_5563del (p.Val1854del) c.5615_5617del (p.Val1872del) c.*4937_*4939del (n.*4937_*4939del) c.230+12237_230+12239del c.5645_5647del (p.Val1882del) c.5540_5542del (p.Val1847del) c.5531_5533del (p.Val1844del) c.5492_5494del (p.Val1831del) c.5438_5440del (p.Val1813del) c.5342_5344del (p.Val1781del) c.5312_5314del (p.Val1771del) c.5237_5239del (p.Val1746del) c.5135_5137del (p.Val1712del) c.4766_4768del (p.Val1589del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841208G>A | CA16033619 | APC | c.5668G>A (p.Val1890Ile) c.*5620G>A (n.*5620G>A) c.5560G>A (p.Val1854Ile) c.5614G>A (p.Val1872Ile) c.*4936G>A (n.*4936G>A) c.230+12236G>A c.5644G>A (p.Val1882Ile) c.5539G>A (p.Val1847Ile) c.5530G>A (p.Val1844Ile) c.5491G>A (p.Val1831Ile) c.5437G>A (p.Val1813Ile) c.5341G>A (p.Val1781Ile) c.5311G>A (p.Val1771Ile) c.5236G>A (p.Val1746Ile) c.5134G>A (p.Val1712Ile) c.4765G>A (p.Val1589Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841208G>C | CA16033620 | APC | c.5668G>C (p.Val1890Leu) c.*5620G>C (n.*5620G>C) c.5560G>C (p.Val1854Leu) c.5614G>C (p.Val1872Leu) c.*4936G>C (n.*4936G>C) c.230+12236G>C c.5644G>C (p.Val1882Leu) c.5539G>C (p.Val1847Leu) c.5530G>C (p.Val1844Leu) c.5491G>C (p.Val1831Leu) c.5437G>C (p.Val1813Leu) c.5341G>C (p.Val1781Leu) c.5311G>C (p.Val1771Leu) c.5236G>C (p.Val1746Leu) c.5134G>C (p.Val1712Leu) c.4765G>C (p.Val1589Leu) | |
| 5 | g.112841208G= | CA1573477426 | APC | c.5668G= (p.Val1890=) c.*5620G= (n.*5620G=) c.5560G= (p.Val1854=) c.5614G= (p.Val1872=) c.*4936G= (n.*4936G=) c.230+12236G= c.5644G= (p.Val1882=) c.5539G= (p.Val1847=) c.5530G= (p.Val1844=) c.5491G= (p.Val1831=) c.5437G= (p.Val1813=) c.5341G= (p.Val1781=) c.5311G= (p.Val1771=) c.5236G= (p.Val1746=) c.5134G= (p.Val1712=) c.4765G= (p.Val1589=) | |
| 5 | g.112841208G>T | CA16033621 | APC | c.5668G>T (p.Val1890Phe) c.*5620G>T (n.*5620G>T) c.5560G>T (p.Val1854Phe) c.5614G>T (p.Val1872Phe) c.*4936G>T (n.*4936G>T) c.230+12236G>T c.5644G>T (p.Val1882Phe) c.5539G>T (p.Val1847Phe) c.5530G>T (p.Val1844Phe) c.5491G>T (p.Val1831Phe) c.5437G>T (p.Val1813Phe) c.5341G>T (p.Val1781Phe) c.5311G>T (p.Val1771Phe) c.5236G>T (p.Val1746Phe) c.5134G>T (p.Val1712Phe) c.4765G>T (p.Val1589Phe) | |
| 5 | g.112841209T>A | CA042417 | APC | c.5669T>A (p.Val1890Asp) c.*5621T>A (n.*5621T>A) c.5561T>A (p.Val1854Asp) c.5615T>A (p.Val1872Asp) c.*4937T>A (n.*4937T>A) c.230+12237T>A c.5645T>A (p.Val1882Asp) c.5540T>A (p.Val1847Asp) c.5531T>A (p.Val1844Asp) c.5492T>A (p.Val1831Asp) c.5438T>A (p.Val1813Asp) c.5342T>A (p.Val1781Asp) c.5312T>A (p.Val1771Asp) c.5237T>A (p.Val1746Asp) c.5135T>A (p.Val1712Asp) c.4766T>A (p.Val1589Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112841209T>C | CA16033622 | APC | c.5669T>C (p.Val1890Ala) c.*5621T>C (n.*5621T>C) c.5561T>C (p.Val1854Ala) c.5615T>C (p.Val1872Ala) c.*4937T>C (n.*4937T>C) c.230+12237T>C c.5645T>C (p.Val1882Ala) c.5540T>C (p.Val1847Ala) c.5531T>C (p.Val1844Ala) c.5492T>C (p.Val1831Ala) c.5438T>C (p.Val1813Ala) c.5342T>C (p.Val1781Ala) c.5312T>C (p.Val1771Ala) c.5237T>C (p.Val1746Ala) c.5135T>C (p.Val1712Ala) c.4766T>C (p.Val1589Ala) | ClinVar dbSNP |
| 5 | g.112841209T>G | CA16033623 | APC | c.5669T>G (p.Val1890Gly) c.*5621T>G (n.*5621T>G) c.5561T>G (p.Val1854Gly) c.5615T>G (p.Val1872Gly) c.*4937T>G (n.*4937T>G) c.230+12237T>G c.5645T>G (p.Val1882Gly) c.5540T>G (p.Val1847Gly) c.5531T>G (p.Val1844Gly) c.5492T>G (p.Val1831Gly) c.5438T>G (p.Val1813Gly) c.5342T>G (p.Val1781Gly) c.5312T>G (p.Val1771Gly) c.5237T>G (p.Val1746Gly) c.5135T>G (p.Val1712Gly) c.4766T>G (p.Val1589Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841209T= | CA1573477439 | APC | c.5669T= (p.Val1890=) c.*5621T= (n.*5621T=) c.5561T= (p.Val1854=) c.5615T= (p.Val1872=) c.*4937T= (n.*4937T=) c.230+12237T= c.5645T= (p.Val1882=) c.5540T= (p.Val1847=) c.5531T= (p.Val1844=) c.5492T= (p.Val1831=) c.5438T= (p.Val1813=) c.5342T= (p.Val1781=) c.5312T= (p.Val1771=) c.5237T= (p.Val1746=) c.5135T= (p.Val1712=) c.4766T= (p.Val1589=) | |
| 5 | g.112841210T>A | CA446208969 | APC | c.5670T>A (p.Val1890=) c.*5622T>A (n.*5622T>A) c.5562T>A (p.Val1854=) c.5616T>A (p.Val1872=) c.*4938T>A (n.*4938T>A) c.230+12238T>A c.5646T>A (p.Val1882=) c.5541T>A (p.Val1847=) c.5532T>A (p.Val1844=) c.5493T>A (p.Val1831=) c.5439T>A (p.Val1813=) c.5343T>A (p.Val1781=) c.5313T>A (p.Val1771=) c.5238T>A (p.Val1746=) c.5136T>A (p.Val1712=) c.4767T>A (p.Val1589=) | dbSNP |
| 5 | g.112841210T>C | CA446208970 | APC | c.5670T>C (p.Val1890=) c.*5622T>C (n.*5622T>C) c.5562T>C (p.Val1854=) c.5616T>C (p.Val1872=) c.*4938T>C (n.*4938T>C) c.230+12238T>C c.5646T>C (p.Val1882=) c.5541T>C (p.Val1847=) c.5532T>C (p.Val1844=) c.5493T>C (p.Val1831=) c.5439T>C (p.Val1813=) c.5343T>C (p.Val1781=) c.5313T>C (p.Val1771=) c.5238T>C (p.Val1746=) c.5136T>C (p.Val1712=) c.4767T>C (p.Val1589=) | |
| 5 | g.112841210T>G | CA446208971 | APC | c.5670T>G (p.Val1890=) c.*5622T>G (n.*5622T>G) c.5562T>G (p.Val1854=) c.5616T>G (p.Val1872=) c.*4938T>G (n.*4938T>G) c.230+12238T>G c.5646T>G (p.Val1882=) c.5541T>G (p.Val1847=) c.5532T>G (p.Val1844=) c.5493T>G (p.Val1831=) c.5439T>G (p.Val1813=) c.5343T>G (p.Val1781=) c.5313T>G (p.Val1771=) c.5238T>G (p.Val1746=) c.5136T>G (p.Val1712=) c.4767T>G (p.Val1589=) | dbSNP |
| 5 | g.112841211G>A | CA16033624 | APC | c.5671G>A (p.Asp1891Asn) c.*5623G>A (n.*5623G>A) c.5563G>A (p.Asp1855Asn) c.5617G>A (p.Asp1873Asn) c.*4939G>A (n.*4939G>A) c.230+12239G>A c.5647G>A (p.Asp1883Asn) c.5542G>A (p.Asp1848Asn) c.5533G>A (p.Asp1845Asn) c.5494G>A (p.Asp1832Asn) c.5440G>A (p.Asp1814Asn) c.5344G>A (p.Asp1782Asn) c.5314G>A (p.Asp1772Asn) c.5239G>A (p.Asp1747Asn) c.5137G>A (p.Asp1713Asn) c.4768G>A (p.Asp1590Asn) | dbSNP |
| 5 | g.112841211G>C | CA16033625 | APC | c.5671G>C (p.Asp1891His) c.*5623G>C (n.*5623G>C) c.5563G>C (p.Asp1855His) c.5617G>C (p.Asp1873His) c.*4939G>C (n.*4939G>C) c.230+12239G>C c.5647G>C (p.Asp1883His) c.5542G>C (p.Asp1848His) c.5533G>C (p.Asp1845His) c.5494G>C (p.Asp1832His) c.5440G>C (p.Asp1814His) c.5344G>C (p.Asp1782His) c.5314G>C (p.Asp1772His) c.5239G>C (p.Asp1747His) c.5137G>C (p.Asp1713His) c.4768G>C (p.Asp1590His) | dbSNP COSMIC |
| 5 | g.112841211G>T | CA16033626 | APC | c.5671G>T (p.Asp1891Tyr) c.*5623G>T (n.*5623G>T) c.5563G>T (p.Asp1855Tyr) c.5617G>T (p.Asp1873Tyr) c.*4939G>T (n.*4939G>T) c.230+12239G>T c.5647G>T (p.Asp1883Tyr) c.5542G>T (p.Asp1848Tyr) c.5533G>T (p.Asp1845Tyr) c.5494G>T (p.Asp1832Tyr) c.5440G>T (p.Asp1814Tyr) c.5344G>T (p.Asp1782Tyr) c.5314G>T (p.Asp1772Tyr) c.5239G>T (p.Asp1747Tyr) c.5137G>T (p.Asp1713Tyr) c.4768G>T (p.Asp1590Tyr) | dbSNP |
| 5 | g.112841212A= | CA1573477448 | APC | c.5672A= (p.Asp1891=) c.*5624A= (n.*5624A=) c.5564A= (p.Asp1855=) c.5618A= (p.Asp1873=) c.*4940A= (n.*4940A=) c.230+12240A= c.5648A= (p.Asp1883=) c.5543A= (p.Asp1848=) c.5534A= (p.Asp1845=) c.5495A= (p.Asp1832=) c.5441A= (p.Asp1814=) c.5345A= (p.Asp1782=) c.5315A= (p.Asp1772=) c.5240A= (p.Asp1747=) c.5138A= (p.Asp1713=) c.4769A= (p.Asp1590=) | |
| 5 | g.112841212A>C | CA16033627 | APC | c.5672A>C (p.Asp1891Ala) c.*5624A>C (n.*5624A>C) c.5564A>C (p.Asp1855Ala) c.5618A>C (p.Asp1873Ala) c.*4940A>C (n.*4940A>C) c.230+12240A>C c.5648A>C (p.Asp1883Ala) c.5543A>C (p.Asp1848Ala) c.5534A>C (p.Asp1845Ala) c.5495A>C (p.Asp1832Ala) c.5441A>C (p.Asp1814Ala) c.5345A>C (p.Asp1782Ala) c.5315A>C (p.Asp1772Ala) c.5240A>C (p.Asp1747Ala) c.5138A>C (p.Asp1713Ala) c.4769A>C (p.Asp1590Ala) | dbSNP |
| 5 | g.112841212A>G | CA16033628 | APC | c.5672A>G (p.Asp1891Gly) c.*5624A>G (n.*5624A>G) c.5564A>G (p.Asp1855Gly) c.5618A>G (p.Asp1873Gly) c.*4940A>G (n.*4940A>G) c.230+12240A>G c.5648A>G (p.Asp1883Gly) c.5543A>G (p.Asp1848Gly) c.5534A>G (p.Asp1845Gly) c.5495A>G (p.Asp1832Gly) c.5441A>G (p.Asp1814Gly) c.5345A>G (p.Asp1782Gly) c.5315A>G (p.Asp1772Gly) c.5240A>G (p.Asp1747Gly) c.5138A>G (p.Asp1713Gly) c.4769A>G (p.Asp1590Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112841212A>T | CA16033629 | APC | c.5672A>T (p.Asp1891Val) c.*5624A>T (n.*5624A>T) c.5564A>T (p.Asp1855Val) c.5618A>T (p.Asp1873Val) c.*4940A>T (n.*4940A>T) c.230+12240A>T c.5648A>T (p.Asp1883Val) c.5543A>T (p.Asp1848Val) c.5534A>T (p.Asp1845Val) c.5495A>T (p.Asp1832Val) c.5441A>T (p.Asp1814Val) c.5345A>T (p.Asp1782Val) c.5315A>T (p.Asp1772Val) c.5240A>T (p.Asp1747Val) c.5138A>T (p.Asp1713Val) c.4769A>T (p.Asp1590Val) | dbSNP |
| 5 | g.112841213C>A | CA16033630 | APC | c.5673C>A (p.Asp1891Glu) c.*5625C>A (n.*5625C>A) c.5565C>A (p.Asp1855Glu) c.5619C>A (p.Asp1873Glu) c.*4941C>A (n.*4941C>A) c.230+12241C>A c.5649C>A (p.Asp1883Glu) c.5544C>A (p.Asp1848Glu) c.5535C>A (p.Asp1845Glu) c.5496C>A (p.Asp1832Glu) c.5442C>A (p.Asp1814Glu) c.5346C>A (p.Asp1782Glu) c.5316C>A (p.Asp1772Glu) c.5241C>A (p.Asp1747Glu) c.5139C>A (p.Asp1713Glu) c.4770C>A (p.Asp1590Glu) | dbSNP |
| 5 | g.112841213C= | CA1573477456 | APC | c.5673C= (p.Asp1891=) c.*5625C= (n.*5625C=) c.5565C= (p.Asp1855=) c.5619C= (p.Asp1873=) c.*4941C= (n.*4941C=) c.230+12241C= c.5649C= (p.Asp1883=) c.5544C= (p.Asp1848=) c.5535C= (p.Asp1845=) c.5496C= (p.Asp1832=) c.5442C= (p.Asp1814=) c.5346C= (p.Asp1782=) c.5316C= (p.Asp1772=) c.5241C= (p.Asp1747=) c.5139C= (p.Asp1713=) c.4770C= (p.Asp1590=) | |
| 5 | g.112841213C>G | CA16033631 | APC | c.5673C>G (p.Asp1891Glu) c.*5625C>G (n.*5625C>G) c.5565C>G (p.Asp1855Glu) c.5619C>G (p.Asp1873Glu) c.*4941C>G (n.*4941C>G) c.230+12241C>G c.5649C>G (p.Asp1883Glu) c.5544C>G (p.Asp1848Glu) c.5535C>G (p.Asp1845Glu) c.5496C>G (p.Asp1832Glu) c.5442C>G (p.Asp1814Glu) c.5346C>G (p.Asp1782Glu) c.5316C>G (p.Asp1772Glu) c.5241C>G (p.Asp1747Glu) c.5139C>G (p.Asp1713Glu) c.4770C>G (p.Asp1590Glu) | dbSNP |
| 5 | g.112841213C>T | CA042432 | APC | c.5673C>T (p.Asp1891=) c.*5625C>T (n.*5625C>T) c.5565C>T (p.Asp1855=) c.5619C>T (p.Asp1873=) c.*4941C>T (n.*4941C>T) c.230+12241C>T c.5649C>T (p.Asp1883=) c.5544C>T (p.Asp1848=) c.5535C>T (p.Asp1845=) c.5496C>T (p.Asp1832=) c.5442C>T (p.Asp1814=) c.5346C>T (p.Asp1782=) c.5316C>T (p.Asp1772=) c.5241C>T (p.Asp1747=) c.5139C>T (p.Asp1713=) c.4770C>T (p.Asp1590=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112841214C>A | CA16033632 | APC | c.5674C>A (p.Leu1892Ile) c.*5626C>A (n.*5626C>A) c.5566C>A (p.Leu1856Ile) c.5620C>A (p.Leu1874Ile) c.*4942C>A (n.*4942C>A) c.230+12242C>A c.5650C>A (p.Leu1884Ile) c.5545C>A (p.Leu1849Ile) c.5536C>A (p.Leu1846Ile) c.5497C>A (p.Leu1833Ile) c.5443C>A (p.Leu1815Ile) c.5347C>A (p.Leu1783Ile) c.5317C>A (p.Leu1773Ile) c.5242C>A (p.Leu1748Ile) c.5140C>A (p.Leu1714Ile) c.4771C>A (p.Leu1591Ile) | ClinVar dbSNP |
| 5 | g.112841214C= | CA1573477468 | APC | c.5674C= (p.Leu1892=) c.*5626C= (n.*5626C=) c.5566C= (p.Leu1856=) c.5620C= (p.Leu1874=) c.*4942C= (n.*4942C=) c.230+12242C= c.5650C= (p.Leu1884=) c.5545C= (p.Leu1849=) c.5536C= (p.Leu1846=) c.5497C= (p.Leu1833=) c.5443C= (p.Leu1815=) c.5347C= (p.Leu1783=) c.5317C= (p.Leu1773=) c.5242C= (p.Leu1748=) c.5140C= (p.Leu1714=) c.4771C= (p.Leu1591=) | |
| 5 | g.112841214C>G | CA16033633 | APC | c.5674C>G (p.Leu1892Val) c.*5626C>G (n.*5626C>G) c.5566C>G (p.Leu1856Val) c.5620C>G (p.Leu1874Val) c.*4942C>G (n.*4942C>G) c.230+12242C>G c.5650C>G (p.Leu1884Val) c.5545C>G (p.Leu1849Val) c.5536C>G (p.Leu1846Val) c.5497C>G (p.Leu1833Val) c.5443C>G (p.Leu1815Val) c.5347C>G (p.Leu1783Val) c.5317C>G (p.Leu1773Val) c.5242C>G (p.Leu1748Val) c.5140C>G (p.Leu1714Val) c.4771C>G (p.Leu1591Val) | |
| 5 | g.112841214C>T | CA16033634 | APC | c.5674C>T (p.Leu1892Phe) c.*5626C>T (n.*5626C>T) c.5566C>T (p.Leu1856Phe) c.5620C>T (p.Leu1874Phe) c.*4942C>T (n.*4942C>T) c.230+12242C>T c.5650C>T (p.Leu1884Phe) c.5545C>T (p.Leu1849Phe) c.5536C>T (p.Leu1846Phe) c.5497C>T (p.Leu1833Phe) c.5443C>T (p.Leu1815Phe) c.5347C>T (p.Leu1783Phe) c.5317C>T (p.Leu1773Phe) c.5242C>T (p.Leu1748Phe) c.5140C>T (p.Leu1714Phe) c.4771C>T (p.Leu1591Phe) | dbSNP |
| 5 | g.112841215T>A | CA16033635 | APC | c.5675T>A (p.Leu1892His) c.*5627T>A (n.*5627T>A) c.5567T>A (p.Leu1856His) c.5621T>A (p.Leu1874His) c.*4943T>A (n.*4943T>A) c.230+12243T>A c.5651T>A (p.Leu1884His) c.5546T>A (p.Leu1849His) c.5537T>A (p.Leu1846His) c.5498T>A (p.Leu1833His) c.5444T>A (p.Leu1815His) c.5348T>A (p.Leu1783His) c.5318T>A (p.Leu1773His) c.5243T>A (p.Leu1748His) c.5141T>A (p.Leu1714His) c.4772T>A (p.Leu1591His) | dbSNP |
| 5 | g.112841215T>C | CA16033636 | APC | c.5675T>C (p.Leu1892Pro) c.*5627T>C (n.*5627T>C) c.5567T>C (p.Leu1856Pro) c.5621T>C (p.Leu1874Pro) c.*4943T>C (n.*4943T>C) c.230+12243T>C c.5651T>C (p.Leu1884Pro) c.5546T>C (p.Leu1849Pro) c.5537T>C (p.Leu1846Pro) c.5498T>C (p.Leu1833Pro) c.5444T>C (p.Leu1815Pro) c.5348T>C (p.Leu1783Pro) c.5318T>C (p.Leu1773Pro) c.5243T>C (p.Leu1748Pro) c.5141T>C (p.Leu1714Pro) c.4772T>C (p.Leu1591Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112841215T>G | CA16033637 | APC | c.5675T>G (p.Leu1892Arg) c.*5627T>G (n.*5627T>G) c.5567T>G (p.Leu1856Arg) c.5621T>G (p.Leu1874Arg) c.*4943T>G (n.*4943T>G) c.230+12243T>G c.5651T>G (p.Leu1884Arg) c.5546T>G (p.Leu1849Arg) c.5537T>G (p.Leu1846Arg) c.5498T>G (p.Leu1833Arg) c.5444T>G (p.Leu1815Arg) c.5348T>G (p.Leu1783Arg) c.5318T>G (p.Leu1773Arg) c.5243T>G (p.Leu1748Arg) c.5141T>G (p.Leu1714Arg) c.4772T>G (p.Leu1591Arg) | |
| 5 | g.112841215T= | CA1573477492 | APC | c.5675T= (p.Leu1892=) c.*5627T= (n.*5627T=) c.5567T= (p.Leu1856=) c.5621T= (p.Leu1874=) c.*4943T= (n.*4943T=) c.230+12243T= c.5651T= (p.Leu1884=) c.5546T= (p.Leu1849=) c.5537T= (p.Leu1846=) c.5498T= (p.Leu1833=) c.5444T= (p.Leu1815=) c.5348T= (p.Leu1783=) c.5318T= (p.Leu1773=) c.5243T= (p.Leu1748=) c.5141T= (p.Leu1714=) c.4772T= (p.Leu1591=) | |
| 5 | g.112841216T>A | CA446208972 | APC | c.5676T>A (p.Leu1892=) c.*5628T>A (n.*5628T>A) c.5568T>A (p.Leu1856=) c.5622T>A (p.Leu1874=) c.*4944T>A (n.*4944T>A) c.230+12244T>A c.5652T>A (p.Leu1884=) c.5547T>A (p.Leu1849=) c.5538T>A (p.Leu1846=) c.5499T>A (p.Leu1833=) c.5445T>A (p.Leu1815=) c.5349T>A (p.Leu1783=) c.5319T>A (p.Leu1773=) c.5244T>A (p.Leu1748=) c.5142T>A (p.Leu1714=) c.4773T>A (p.Leu1591=) | dbSNP |
| 5 | g.112841216T>C | CA446208973 | APC | c.5676T>C (p.Leu1892=) c.*5628T>C (n.*5628T>C) c.5568T>C (p.Leu1856=) c.5622T>C (p.Leu1874=) c.*4944T>C (n.*4944T>C) c.230+12244T>C c.5652T>C (p.Leu1884=) c.5547T>C (p.Leu1849=) c.5538T>C (p.Leu1846=) c.5499T>C (p.Leu1833=) c.5445T>C (p.Leu1815=) c.5349T>C (p.Leu1783=) c.5319T>C (p.Leu1773=) c.5244T>C (p.Leu1748=) c.5142T>C (p.Leu1714=) c.4773T>C (p.Leu1591=) | dbSNP |
| 5 | g.112841216T>G | CA446208974 | APC | c.5676T>G (p.Leu1892=) c.*5628T>G (n.*5628T>G) c.5568T>G (p.Leu1856=) c.5622T>G (p.Leu1874=) c.*4944T>G (n.*4944T>G) c.230+12244T>G c.5652T>G (p.Leu1884=) c.5547T>G (p.Leu1849=) c.5538T>G (p.Leu1846=) c.5499T>G (p.Leu1833=) c.5445T>G (p.Leu1815=) c.5349T>G (p.Leu1783=) c.5319T>G (p.Leu1773=) c.5244T>G (p.Leu1748=) c.5142T>G (p.Leu1714=) c.4773T>G (p.Leu1591=) | |
| 5 | g.112841217T>A | CA16033638 | APC | c.5677T>A (p.Ser1893Thr) c.*5629T>A (n.*5629T>A) c.5569T>A (p.Ser1857Thr) c.5623T>A (p.Ser1875Thr) c.*4945T>A (n.*4945T>A) c.230+12245T>A c.5653T>A (p.Ser1885Thr) c.5548T>A (p.Ser1850Thr) c.5539T>A (p.Ser1847Thr) c.5500T>A (p.Ser1834Thr) c.5446T>A (p.Ser1816Thr) c.5350T>A (p.Ser1784Thr) c.5320T>A (p.Ser1774Thr) c.5245T>A (p.Ser1749Thr) c.5143T>A (p.Ser1715Thr) c.4774T>A (p.Ser1592Thr) | |
| 5 | g.112841217T>C | CA16033639 | APC | c.5677T>C (p.Ser1893Pro) c.*5629T>C (n.*5629T>C) c.5569T>C (p.Ser1857Pro) c.5623T>C (p.Ser1875Pro) c.*4945T>C (n.*4945T>C) c.230+12245T>C c.5653T>C (p.Ser1885Pro) c.5548T>C (p.Ser1850Pro) c.5539T>C (p.Ser1847Pro) c.5500T>C (p.Ser1834Pro) c.5446T>C (p.Ser1816Pro) c.5350T>C (p.Ser1784Pro) c.5320T>C (p.Ser1774Pro) c.5245T>C (p.Ser1749Pro) c.5143T>C (p.Ser1715Pro) c.4774T>C (p.Ser1592Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |