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.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.112841250_112841255delinsGAAAAT | CA1573477651 | APC | c.5710_5715delinsGAAAAT (p.Glu1904=) c.*5662_*5667delinsGAAAAT (n.*5662_*5667delinsGAAAAT) c.5602_5607delinsGAAAAT (p.Glu1868=) c.5656_5661delinsGAAAAT (p.Glu1886=) c.*4978_*4983delinsGAAAAT (n.*4978_*4983delinsGAAAAT) c.230+12278_230+12283delinsGAAAAT c.5686_5691delinsGAAAAT (p.Glu1896=) c.5581_5586delinsGAAAAT (p.Glu1861=) c.5572_5577delinsGAAAAT (p.Glu1858=) c.5533_5538delinsGAAAAT (p.Glu1845=) c.5479_5484delinsGAAAAT (p.Glu1827=) c.5383_5388delinsGAAAAT (p.Glu1795=) c.5353_5358delinsGAAAAT (p.Glu1785=) c.5278_5283delinsGAAAAT (p.Glu1760=) c.5176_5181delinsGAAAAT (p.Glu1726=) c.4807_4812delinsGAAAAT (p.Glu1603=) | |
| 5 | g.112841251A>C | CA16033714 | APC | c.5711A>C (p.Glu1904Ala) c.*5663A>C (n.*5663A>C) c.5603A>C (p.Glu1868Ala) c.5657A>C (p.Glu1886Ala) c.*4979A>C (n.*4979A>C) c.230+12279A>C c.5687A>C (p.Glu1896Ala) c.5582A>C (p.Glu1861Ala) c.5573A>C (p.Glu1858Ala) c.5534A>C (p.Glu1845Ala) c.5480A>C (p.Glu1827Ala) c.5384A>C (p.Glu1795Ala) c.5354A>C (p.Glu1785Ala) c.5279A>C (p.Glu1760Ala) c.5177A>C (p.Glu1726Ala) c.4808A>C (p.Glu1603Ala) | |
| 5 | g.112841251A>G | CA16033715 | APC | c.5711A>G (p.Glu1904Gly) c.*5663A>G (n.*5663A>G) c.5603A>G (p.Glu1868Gly) c.5657A>G (p.Glu1886Gly) c.*4979A>G (n.*4979A>G) c.230+12279A>G c.5687A>G (p.Glu1896Gly) c.5582A>G (p.Glu1861Gly) c.5573A>G (p.Glu1858Gly) c.5534A>G (p.Glu1845Gly) c.5480A>G (p.Glu1827Gly) c.5384A>G (p.Glu1795Gly) c.5354A>G (p.Glu1785Gly) c.5279A>G (p.Glu1760Gly) c.5177A>G (p.Glu1726Gly) c.4808A>G (p.Glu1603Gly) | gnomAD v4 |
| 5 | g.112841251A>T | CA16033716 | APC | c.5711A>T (p.Glu1904Val) c.*5663A>T (n.*5663A>T) c.5603A>T (p.Glu1868Val) c.5657A>T (p.Glu1886Val) c.*4979A>T (n.*4979A>T) c.230+12279A>T c.5687A>T (p.Glu1896Val) c.5582A>T (p.Glu1861Val) c.5573A>T (p.Glu1858Val) c.5534A>T (p.Glu1845Val) c.5480A>T (p.Glu1827Val) c.5384A>T (p.Glu1795Val) c.5354A>T (p.Glu1785Val) c.5279A>T (p.Glu1760Val) c.5177A>T (p.Glu1726Val) c.4808A>T (p.Glu1603Val) | dbSNP |
| 5 | g.112841253_112841257del | CA658822520 | APC | c.5713_5717del (p.Asn1905GlyfsTer5) c.*5665_*5669del (n.*5665_*5669del) c.5605_5609del (p.Asn1869GlyfsTer5) c.5659_5663del (p.Asn1887GlyfsTer5) c.*4981_*4985del (n.*4981_*4985del) c.230+12281_230+12285del c.5689_5693del (p.Asn1897GlyfsTer5) c.5584_5588del (p.Asn1862GlyfsTer5) c.5575_5579del (p.Asn1859GlyfsTer5) c.5536_5540del (p.Asn1846GlyfsTer5) c.5482_5486del (p.Asn1828GlyfsTer5) c.5386_5390del (p.Asn1796GlyfsTer5) c.5356_5360del (p.Asn1786GlyfsTer5) c.5281_5285del (p.Asn1761GlyfsTer5) c.5179_5183del (p.Asn1727GlyfsTer5) c.4810_4814del (p.Asn1604GlyfsTer5) | ClinVar dbSNP |
| 5 | g.112841252A= | CA1573477661 | APC | c.5712A= (p.Glu1904=) c.*5664A= (n.*5664A=) c.5604A= (p.Glu1868=) c.5658A= (p.Glu1886=) c.*4980A= (n.*4980A=) c.230+12280A= c.5688A= (p.Glu1896=) c.5583A= (p.Glu1861=) c.5574A= (p.Glu1858=) c.5535A= (p.Glu1845=) c.5481A= (p.Glu1827=) c.5385A= (p.Glu1795=) c.5355A= (p.Glu1785=) c.5280A= (p.Glu1760=) c.5178A= (p.Glu1726=) c.4809A= (p.Glu1603=) | |
| 5 | g.112841252A>C | CA16033717 | APC | c.5712A>C (p.Glu1904Asp) c.*5664A>C (n.*5664A>C) c.5604A>C (p.Glu1868Asp) c.5658A>C (p.Glu1886Asp) c.*4980A>C (n.*4980A>C) c.230+12280A>C c.5688A>C (p.Glu1896Asp) c.5583A>C (p.Glu1861Asp) c.5574A>C (p.Glu1858Asp) c.5535A>C (p.Glu1845Asp) c.5481A>C (p.Glu1827Asp) c.5385A>C (p.Glu1795Asp) c.5355A>C (p.Glu1785Asp) c.5280A>C (p.Glu1760Asp) c.5178A>C (p.Glu1726Asp) c.4809A>C (p.Glu1603Asp) | ClinVar |
| 5 | g.112841252A>G | CA446208994 | APC | c.5712A>G (p.Glu1904=) c.*5664A>G (n.*5664A>G) c.5604A>G (p.Glu1868=) c.5658A>G (p.Glu1886=) c.*4980A>G (n.*4980A>G) c.230+12280A>G c.5688A>G (p.Glu1896=) c.5583A>G (p.Glu1861=) c.5574A>G (p.Glu1858=) c.5535A>G (p.Glu1845=) c.5481A>G (p.Glu1827=) c.5385A>G (p.Glu1795=) c.5355A>G (p.Glu1785=) c.5280A>G (p.Glu1760=) c.5178A>G (p.Glu1726=) c.4809A>G (p.Glu1603=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841252A>T | CA16033718 | APC | c.5712A>T (p.Glu1904Asp) c.*5664A>T (n.*5664A>T) c.5604A>T (p.Glu1868Asp) c.5658A>T (p.Glu1886Asp) c.*4980A>T (n.*4980A>T) c.230+12280A>T c.5688A>T (p.Glu1896Asp) c.5583A>T (p.Glu1861Asp) c.5574A>T (p.Glu1858Asp) c.5535A>T (p.Glu1845Asp) c.5481A>T (p.Glu1827Asp) c.5385A>T (p.Glu1795Asp) c.5355A>T (p.Glu1785Asp) c.5280A>T (p.Glu1760Asp) c.5178A>T (p.Glu1726Asp) c.4809A>T (p.Glu1603Asp) | dbSNP |
| 5 | g.112841253A>C | CA16033719 | APC | c.5713A>C (p.Asn1905His) c.*5665A>C (n.*5665A>C) c.5605A>C (p.Asn1869His) c.5659A>C (p.Asn1887His) c.*4981A>C (n.*4981A>C) c.230+12281A>C c.5689A>C (p.Asn1897His) c.5584A>C (p.Asn1862His) c.5575A>C (p.Asn1859His) c.5536A>C (p.Asn1846His) c.5482A>C (p.Asn1828His) c.5386A>C (p.Asn1796His) c.5356A>C (p.Asn1786His) c.5281A>C (p.Asn1761His) c.5179A>C (p.Asn1727His) c.4810A>C (p.Asn1604His) | |
| 5 | g.112841253A>G | CA16033720 | APC | c.5713A>G (p.Asn1905Asp) c.*5665A>G (n.*5665A>G) c.5605A>G (p.Asn1869Asp) c.5659A>G (p.Asn1887Asp) c.*4981A>G (n.*4981A>G) c.230+12281A>G c.5689A>G (p.Asn1897Asp) c.5584A>G (p.Asn1862Asp) c.5575A>G (p.Asn1859Asp) c.5536A>G (p.Asn1846Asp) c.5482A>G (p.Asn1828Asp) c.5386A>G (p.Asn1796Asp) c.5356A>G (p.Asn1786Asp) c.5281A>G (p.Asn1761Asp) c.5179A>G (p.Asn1727Asp) c.4810A>G (p.Asn1604Asp) | dbSNP gnomAD v4 |
| 5 | g.112841253A>T | CA16033721 | APC | c.5713A>T (p.Asn1905Tyr) c.*5665A>T (n.*5665A>T) c.5605A>T (p.Asn1869Tyr) c.5659A>T (p.Asn1887Tyr) c.*4981A>T (n.*4981A>T) c.230+12281A>T c.5689A>T (p.Asn1897Tyr) c.5584A>T (p.Asn1862Tyr) c.5575A>T (p.Asn1859Tyr) c.5536A>T (p.Asn1846Tyr) c.5482A>T (p.Asn1828Tyr) c.5386A>T (p.Asn1796Tyr) c.5356A>T (p.Asn1786Tyr) c.5281A>T (p.Asn1761Tyr) c.5179A>T (p.Asn1727Tyr) c.4810A>T (p.Asn1604Tyr) | dbSNP |
| 5 | g.112841254A>C | CA16033722 | APC | c.5714A>C (p.Asn1905Thr) c.*5666A>C (n.*5666A>C) c.5606A>C (p.Asn1869Thr) c.5660A>C (p.Asn1887Thr) c.*4982A>C (n.*4982A>C) c.230+12282A>C c.5690A>C (p.Asn1897Thr) c.5585A>C (p.Asn1862Thr) c.5576A>C (p.Asn1859Thr) c.5537A>C (p.Asn1846Thr) c.5483A>C (p.Asn1828Thr) c.5387A>C (p.Asn1796Thr) c.5357A>C (p.Asn1786Thr) c.5282A>C (p.Asn1761Thr) c.5180A>C (p.Asn1727Thr) c.4811A>C (p.Asn1604Thr) | dbSNP |
| 5 | g.112841254A>G | CA16033723 | APC | c.5714A>G (p.Asn1905Ser) c.*5666A>G (n.*5666A>G) c.5606A>G (p.Asn1869Ser) c.5660A>G (p.Asn1887Ser) c.*4982A>G (n.*4982A>G) c.230+12282A>G c.5690A>G (p.Asn1897Ser) c.5585A>G (p.Asn1862Ser) c.5576A>G (p.Asn1859Ser) c.5537A>G (p.Asn1846Ser) c.5483A>G (p.Asn1828Ser) c.5387A>G (p.Asn1796Ser) c.5357A>G (p.Asn1786Ser) c.5282A>G (p.Asn1761Ser) c.5180A>G (p.Asn1727Ser) c.4811A>G (p.Asn1604Ser) | dbSNP |
| 5 | g.112841254A>T | CA16033724 | APC | c.5714A>T (p.Asn1905Ile) c.*5666A>T (n.*5666A>T) c.5606A>T (p.Asn1869Ile) c.5660A>T (p.Asn1887Ile) c.*4982A>T (n.*4982A>T) c.230+12282A>T c.5690A>T (p.Asn1897Ile) c.5585A>T (p.Asn1862Ile) c.5576A>T (p.Asn1859Ile) c.5537A>T (p.Asn1846Ile) c.5483A>T (p.Asn1828Ile) c.5387A>T (p.Asn1796Ile) c.5357A>T (p.Asn1786Ile) c.5282A>T (p.Asn1761Ile) c.5180A>T (p.Asn1727Ile) c.4811A>T (p.Asn1604Ile) | dbSNP |
| 5 | g.112841255T>A | CA16033725 | APC | c.5715T>A (p.Asn1905Lys) c.*5667T>A (n.*5667T>A) c.5607T>A (p.Asn1869Lys) c.5661T>A (p.Asn1887Lys) c.*4983T>A (n.*4983T>A) c.230+12283T>A c.5691T>A (p.Asn1897Lys) c.5586T>A (p.Asn1862Lys) c.5577T>A (p.Asn1859Lys) c.5538T>A (p.Asn1846Lys) c.5484T>A (p.Asn1828Lys) c.5388T>A (p.Asn1796Lys) c.5358T>A (p.Asn1786Lys) c.5283T>A (p.Asn1761Lys) c.5181T>A (p.Asn1727Lys) c.4812T>A (p.Asn1604Lys) | |
| 5 | g.112841255T>C | CA446208995 | APC | c.5715T>C (p.Asn1905=) c.*5667T>C (n.*5667T>C) c.5607T>C (p.Asn1869=) c.5661T>C (p.Asn1887=) c.*4983T>C (n.*4983T>C) c.230+12283T>C c.5691T>C (p.Asn1897=) c.5586T>C (p.Asn1862=) c.5577T>C (p.Asn1859=) c.5538T>C (p.Asn1846=) c.5484T>C (p.Asn1828=) c.5388T>C (p.Asn1796=) c.5358T>C (p.Asn1786=) c.5283T>C (p.Asn1761=) c.5181T>C (p.Asn1727=) c.4812T>C (p.Asn1604=) | ClinVar dbSNP |
| 5 | g.112841255T>G | CA16033726 | APC | c.5715T>G (p.Asn1905Lys) c.*5667T>G (n.*5667T>G) c.5607T>G (p.Asn1869Lys) c.5661T>G (p.Asn1887Lys) c.*4983T>G (n.*4983T>G) c.230+12283T>G c.5691T>G (p.Asn1897Lys) c.5586T>G (p.Asn1862Lys) c.5577T>G (p.Asn1859Lys) c.5538T>G (p.Asn1846Lys) c.5484T>G (p.Asn1828Lys) c.5388T>G (p.Asn1796Lys) c.5358T>G (p.Asn1786Lys) c.5283T>G (p.Asn1761Lys) c.5181T>G (p.Asn1727Lys) c.4812T>G (p.Asn1604Lys) | |
| 5 | g.112841255T= | CA1573477673 | APC | c.5715T= (p.Asn1905=) c.*5667T= (n.*5667T=) c.5607T= (p.Asn1869=) c.5661T= (p.Asn1887=) c.*4983T= (n.*4983T=) c.230+12283T= c.5691T= (p.Asn1897=) c.5586T= (p.Asn1862=) c.5577T= (p.Asn1859=) c.5538T= (p.Asn1846=) c.5484T= (p.Asn1828=) c.5388T= (p.Asn1796=) c.5358T= (p.Asn1786=) c.5283T= (p.Asn1761=) c.5181T= (p.Asn1727=) c.4812T= (p.Asn1604=) | |
| 5 | g.112841256A>C | CA16033727 | APC | c.5716A>C (p.Lys1906Gln) c.*5668A>C (n.*5668A>C) c.5608A>C (p.Lys1870Gln) c.5662A>C (p.Lys1888Gln) c.*4984A>C (n.*4984A>C) c.230+12284A>C c.5692A>C (p.Lys1898Gln) c.5587A>C (p.Lys1863Gln) c.5578A>C (p.Lys1860Gln) c.5539A>C (p.Lys1847Gln) c.5485A>C (p.Lys1829Gln) c.5389A>C (p.Lys1797Gln) c.5359A>C (p.Lys1787Gln) c.5284A>C (p.Lys1762Gln) c.5182A>C (p.Lys1728Gln) c.4813A>C (p.Lys1605Gln) | ClinVar dbSNP |
| 5 | g.112841256A>G | CA16033728 | APC | c.5716A>G (p.Lys1906Glu) c.*5668A>G (n.*5668A>G) c.5608A>G (p.Lys1870Glu) c.5662A>G (p.Lys1888Glu) c.*4984A>G (n.*4984A>G) c.230+12284A>G c.5692A>G (p.Lys1898Glu) c.5587A>G (p.Lys1863Glu) c.5578A>G (p.Lys1860Glu) c.5539A>G (p.Lys1847Glu) c.5485A>G (p.Lys1829Glu) c.5389A>G (p.Lys1797Glu) c.5359A>G (p.Lys1787Glu) c.5284A>G (p.Lys1762Glu) c.5182A>G (p.Lys1728Glu) c.4813A>G (p.Lys1605Glu) | ClinVar dbSNP |
| 5 | g.112841256A>T | CA16033729 | APC | c.5716A>T (p.Lys1906Ter) c.*5668A>T (n.*5668A>T) c.5608A>T (p.Lys1870Ter) c.5662A>T (p.Lys1888Ter) c.*4984A>T (n.*4984A>T) c.230+12284A>T c.5692A>T (p.Lys1898Ter) c.5587A>T (p.Lys1863Ter) c.5578A>T (p.Lys1860Ter) c.5539A>T (p.Lys1847Ter) c.5485A>T (p.Lys1829Ter) c.5389A>T (p.Lys1797Ter) c.5359A>T (p.Lys1787Ter) c.5284A>T (p.Lys1762Ter) c.5182A>T (p.Lys1728Ter) c.4813A>T (p.Lys1605Ter) | dbSNP |
| 5 | g.112841257A>C | CA16033730 | APC | c.5717A>C (p.Lys1906Thr) c.*5669A>C (n.*5669A>C) c.5609A>C (p.Lys1870Thr) c.5663A>C (p.Lys1888Thr) c.*4985A>C (n.*4985A>C) c.230+12285A>C c.5693A>C (p.Lys1898Thr) c.5588A>C (p.Lys1863Thr) c.5579A>C (p.Lys1860Thr) c.5540A>C (p.Lys1847Thr) c.5486A>C (p.Lys1829Thr) c.5390A>C (p.Lys1797Thr) c.5360A>C (p.Lys1787Thr) c.5285A>C (p.Lys1762Thr) c.5183A>C (p.Lys1728Thr) c.4814A>C (p.Lys1605Thr) | gnomAD v4 |
| 5 | g.112841257A>G | CA16033731 | APC | c.5717A>G (p.Lys1906Arg) c.*5669A>G (n.*5669A>G) c.5609A>G (p.Lys1870Arg) c.5663A>G (p.Lys1888Arg) c.*4985A>G (n.*4985A>G) c.230+12285A>G c.5693A>G (p.Lys1898Arg) c.5588A>G (p.Lys1863Arg) c.5579A>G (p.Lys1860Arg) c.5540A>G (p.Lys1847Arg) c.5486A>G (p.Lys1829Arg) c.5390A>G (p.Lys1797Arg) c.5360A>G (p.Lys1787Arg) c.5285A>G (p.Lys1762Arg) c.5183A>G (p.Lys1728Arg) c.4814A>G (p.Lys1605Arg) | dbSNP |
| 5 | g.112841257A>T | CA16033732 | APC | c.5717A>T (p.Lys1906Met) c.*5669A>T (n.*5669A>T) c.5609A>T (p.Lys1870Met) c.5663A>T (p.Lys1888Met) c.*4985A>T (n.*4985A>T) c.230+12285A>T c.5693A>T (p.Lys1898Met) c.5588A>T (p.Lys1863Met) c.5579A>T (p.Lys1860Met) c.5540A>T (p.Lys1847Met) c.5486A>T (p.Lys1829Met) c.5390A>T (p.Lys1797Met) c.5360A>T (p.Lys1787Met) c.5285A>T (p.Lys1762Met) c.5183A>T (p.Lys1728Met) c.4814A>T (p.Lys1605Met) | dbSNP |
| 5 | g.112841258G>A | CA446208996 | APC | c.5718G>A (p.Lys1906=) c.*5670G>A (n.*5670G>A) c.5610G>A (p.Lys1870=) c.5664G>A (p.Lys1888=) c.*4986G>A (n.*4986G>A) c.230+12286G>A c.5694G>A (p.Lys1898=) c.5589G>A (p.Lys1863=) c.5580G>A (p.Lys1860=) c.5541G>A (p.Lys1847=) c.5487G>A (p.Lys1829=) c.5391G>A (p.Lys1797=) c.5361G>A (p.Lys1787=) c.5286G>A (p.Lys1762=) c.5184G>A (p.Lys1728=) c.4815G>A (p.Lys1605=) | dbSNP gnomAD v4 |
| 5 | g.112841258G>C | CA16033733 | APC | c.5718G>C (p.Lys1906Asn) c.*5670G>C (n.*5670G>C) c.5610G>C (p.Lys1870Asn) c.5664G>C (p.Lys1888Asn) c.*4986G>C (n.*4986G>C) c.230+12286G>C c.5694G>C (p.Lys1898Asn) c.5589G>C (p.Lys1863Asn) c.5580G>C (p.Lys1860Asn) c.5541G>C (p.Lys1847Asn) c.5487G>C (p.Lys1829Asn) c.5391G>C (p.Lys1797Asn) c.5361G>C (p.Lys1787Asn) c.5286G>C (p.Lys1762Asn) c.5184G>C (p.Lys1728Asn) c.4815G>C (p.Lys1605Asn) | dbSNP |
| 5 | g.112841258G= | CA1573477680 | APC | c.5718G= (p.Lys1906=) c.*5670G= (n.*5670G=) c.5610G= (p.Lys1870=) c.5664G= (p.Lys1888=) c.*4986G= (n.*4986G=) c.230+12286G= c.5694G= (p.Lys1898=) c.5589G= (p.Lys1863=) c.5580G= (p.Lys1860=) c.5541G= (p.Lys1847=) c.5487G= (p.Lys1829=) c.5391G= (p.Lys1797=) c.5361G= (p.Lys1787=) c.5286G= (p.Lys1762=) c.5184G= (p.Lys1728=) c.4815G= (p.Lys1605=) | |
| 5 | g.112841258G>T | CA16033734 | APC | c.5718G>T (p.Lys1906Asn) c.*5670G>T (n.*5670G>T) c.5610G>T (p.Lys1870Asn) c.5664G>T (p.Lys1888Asn) c.*4986G>T (n.*4986G>T) c.230+12286G>T c.5694G>T (p.Lys1898Asn) c.5589G>T (p.Lys1863Asn) c.5580G>T (p.Lys1860Asn) c.5541G>T (p.Lys1847Asn) c.5487G>T (p.Lys1829Asn) c.5391G>T (p.Lys1797Asn) c.5361G>T (p.Lys1787Asn) c.5286G>T (p.Lys1762Asn) c.5184G>T (p.Lys1728Asn) c.4815G>T (p.Lys1605Asn) | dbSNP |
| 5 | g.112841259G>A | CA16033735 | APC | c.5719G>A (p.Glu1907Lys) c.*5671G>A (n.*5671G>A) c.5611G>A (p.Glu1871Lys) c.5665G>A (p.Glu1889Lys) c.*4987G>A (n.*4987G>A) c.230+12287G>A c.5695G>A (p.Glu1899Lys) c.5590G>A (p.Glu1864Lys) c.5581G>A (p.Glu1861Lys) c.5542G>A (p.Glu1848Lys) c.5488G>A (p.Glu1830Lys) c.5392G>A (p.Glu1798Lys) c.5362G>A (p.Glu1788Lys) c.5287G>A (p.Glu1763Lys) c.5185G>A (p.Glu1729Lys) c.4816G>A (p.Glu1606Lys) | ClinVar dbSNP |
| 5 | g.112841259G>C | CA16033736 | APC | c.5719G>C (p.Glu1907Gln) c.*5671G>C (n.*5671G>C) c.5611G>C (p.Glu1871Gln) c.5665G>C (p.Glu1889Gln) c.*4987G>C (n.*4987G>C) c.230+12287G>C c.5695G>C (p.Glu1899Gln) c.5590G>C (p.Glu1864Gln) c.5581G>C (p.Glu1861Gln) c.5542G>C (p.Glu1848Gln) c.5488G>C (p.Glu1830Gln) c.5392G>C (p.Glu1798Gln) c.5362G>C (p.Glu1788Gln) c.5287G>C (p.Glu1763Gln) c.5185G>C (p.Glu1729Gln) c.4816G>C (p.Glu1606Gln) | dbSNP |
| 5 | g.112841259G= | CA1573477687 | APC | c.5719G= (p.Glu1907=) c.*5671G= (n.*5671G=) c.5611G= (p.Glu1871=) c.5665G= (p.Glu1889=) c.*4987G= (n.*4987G=) c.230+12287G= c.5695G= (p.Glu1899=) c.5590G= (p.Glu1864=) c.5581G= (p.Glu1861=) c.5542G= (p.Glu1848=) c.5488G= (p.Glu1830=) c.5392G= (p.Glu1798=) c.5362G= (p.Glu1788=) c.5287G= (p.Glu1763=) c.5185G= (p.Glu1729=) c.4816G= (p.Glu1606=) | |
| 5 | g.112841259G>T | CA16033737 | APC | c.5719G>T (p.Glu1907Ter) c.*5671G>T (n.*5671G>T) c.5611G>T (p.Glu1871Ter) c.5665G>T (p.Glu1889Ter) c.*4987G>T (n.*4987G>T) c.230+12287G>T c.5695G>T (p.Glu1899Ter) c.5590G>T (p.Glu1864Ter) c.5581G>T (p.Glu1861Ter) c.5542G>T (p.Glu1848Ter) c.5488G>T (p.Glu1830Ter) c.5392G>T (p.Glu1798Ter) c.5362G>T (p.Glu1788Ter) c.5287G>T (p.Glu1763Ter) c.5185G>T (p.Glu1729Ter) c.4816G>T (p.Glu1606Ter) | dbSNP |
| 5 | g.112841260A= | CA1573477695 | APC | c.5720A= (p.Glu1907=) c.*5672A= (n.*5672A=) c.5612A= (p.Glu1871=) c.5666A= (p.Glu1889=) c.*4988A= (n.*4988A=) c.230+12288A= c.5696A= (p.Glu1899=) c.5591A= (p.Glu1864=) c.5582A= (p.Glu1861=) c.5543A= (p.Glu1848=) c.5489A= (p.Glu1830=) c.5393A= (p.Glu1798=) c.5363A= (p.Glu1788=) c.5288A= (p.Glu1763=) c.5186A= (p.Glu1729=) c.4817A= (p.Glu1606=) | |
| 5 | g.112841260A>C | CA16033738 | APC | c.5720A>C (p.Glu1907Ala) c.*5672A>C (n.*5672A>C) c.5612A>C (p.Glu1871Ala) c.5666A>C (p.Glu1889Ala) c.*4988A>C (n.*4988A>C) c.230+12288A>C c.5696A>C (p.Glu1899Ala) c.5591A>C (p.Glu1864Ala) c.5582A>C (p.Glu1861Ala) c.5543A>C (p.Glu1848Ala) c.5489A>C (p.Glu1830Ala) c.5393A>C (p.Glu1798Ala) c.5363A>C (p.Glu1788Ala) c.5288A>C (p.Glu1763Ala) c.5186A>C (p.Glu1729Ala) c.4817A>C (p.Glu1606Ala) | |
| 5 | g.112841260A>G | CA16033739 | APC | c.5720A>G (p.Glu1907Gly) c.*5672A>G (n.*5672A>G) c.5612A>G (p.Glu1871Gly) c.5666A>G (p.Glu1889Gly) c.*4988A>G (n.*4988A>G) c.230+12288A>G c.5696A>G (p.Glu1899Gly) c.5591A>G (p.Glu1864Gly) c.5582A>G (p.Glu1861Gly) c.5543A>G (p.Glu1848Gly) c.5489A>G (p.Glu1830Gly) c.5393A>G (p.Glu1798Gly) c.5363A>G (p.Glu1788Gly) c.5288A>G (p.Glu1763Gly) c.5186A>G (p.Glu1729Gly) c.4817A>G (p.Glu1606Gly) | ClinVar dbSNP |
| 5 | g.112841260A>T | CA16033740 | APC | c.5720A>T (p.Glu1907Val) c.*5672A>T (n.*5672A>T) c.5612A>T (p.Glu1871Val) c.5666A>T (p.Glu1889Val) c.*4988A>T (n.*4988A>T) c.230+12288A>T c.5696A>T (p.Glu1899Val) c.5591A>T (p.Glu1864Val) c.5582A>T (p.Glu1861Val) c.5543A>T (p.Glu1848Val) c.5489A>T (p.Glu1830Val) c.5393A>T (p.Glu1798Val) c.5363A>T (p.Glu1788Val) c.5288A>T (p.Glu1763Val) c.5186A>T (p.Glu1729Val) c.4817A>T (p.Glu1606Val) | dbSNP |
| 5 | g.112841261A>C | CA16033741 | APC | c.5721A>C (p.Glu1907Asp) c.*5673A>C (n.*5673A>C) c.5613A>C (p.Glu1871Asp) c.5667A>C (p.Glu1889Asp) c.*4989A>C (n.*4989A>C) c.230+12289A>C c.5697A>C (p.Glu1899Asp) c.5592A>C (p.Glu1864Asp) c.5583A>C (p.Glu1861Asp) c.5544A>C (p.Glu1848Asp) c.5490A>C (p.Glu1830Asp) c.5394A>C (p.Glu1798Asp) c.5364A>C (p.Glu1788Asp) c.5289A>C (p.Glu1763Asp) c.5187A>C (p.Glu1729Asp) c.4818A>C (p.Glu1606Asp) | |
| 5 | g.112841261A>G | CA446208997 | APC | c.5721A>G (p.Glu1907=) c.*5673A>G (n.*5673A>G) c.5613A>G (p.Glu1871=) c.5667A>G (p.Glu1889=) c.*4989A>G (n.*4989A>G) c.230+12289A>G c.5697A>G (p.Glu1899=) c.5592A>G (p.Glu1864=) c.5583A>G (p.Glu1861=) c.5544A>G (p.Glu1848=) c.5490A>G (p.Glu1830=) c.5394A>G (p.Glu1798=) c.5364A>G (p.Glu1788=) c.5289A>G (p.Glu1763=) c.5187A>G (p.Glu1729=) c.4818A>G (p.Glu1606=) | ClinVar dbSNP |
| 5 | g.112841261A>T | CA16033742 | APC | c.5721A>T (p.Glu1907Asp) c.*5673A>T (n.*5673A>T) c.5613A>T (p.Glu1871Asp) c.5667A>T (p.Glu1889Asp) c.*4989A>T (n.*4989A>T) c.230+12289A>T c.5697A>T (p.Glu1899Asp) c.5592A>T (p.Glu1864Asp) c.5583A>T (p.Glu1861Asp) c.5544A>T (p.Glu1848Asp) c.5490A>T (p.Glu1830Asp) c.5394A>T (p.Glu1798Asp) c.5364A>T (p.Glu1788Asp) c.5289A>T (p.Glu1763Asp) c.5187A>T (p.Glu1729Asp) c.4818A>T (p.Glu1606Asp) | |
| 5 | g.112841262T>A | CA16033743 | APC | c.5722T>A (p.Ser1908Thr) c.*5674T>A (n.*5674T>A) c.5614T>A (p.Ser1872Thr) c.5668T>A (p.Ser1890Thr) c.*4990T>A (n.*4990T>A) c.230+12290T>A c.5698T>A (p.Ser1900Thr) c.5593T>A (p.Ser1865Thr) c.5584T>A (p.Ser1862Thr) c.5545T>A (p.Ser1849Thr) c.5491T>A (p.Ser1831Thr) c.5395T>A (p.Ser1799Thr) c.5365T>A (p.Ser1789Thr) c.5290T>A (p.Ser1764Thr) c.5188T>A (p.Ser1730Thr) c.4819T>A (p.Ser1607Thr) | dbSNP |
| 5 | g.112841262T>C | CA16033744 | APC | c.5722T>C (p.Ser1908Pro) c.*5674T>C (n.*5674T>C) c.5614T>C (p.Ser1872Pro) c.5668T>C (p.Ser1890Pro) c.*4990T>C (n.*4990T>C) c.230+12290T>C c.5698T>C (p.Ser1900Pro) c.5593T>C (p.Ser1865Pro) c.5584T>C (p.Ser1862Pro) c.5545T>C (p.Ser1849Pro) c.5491T>C (p.Ser1831Pro) c.5395T>C (p.Ser1799Pro) c.5365T>C (p.Ser1789Pro) c.5290T>C (p.Ser1764Pro) c.5188T>C (p.Ser1730Pro) c.4819T>C (p.Ser1607Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841262T>G | CA16033745 | APC | c.5722T>G (p.Ser1908Ala) c.*5674T>G (n.*5674T>G) c.5614T>G (p.Ser1872Ala) c.5668T>G (p.Ser1890Ala) c.*4990T>G (n.*4990T>G) c.230+12290T>G c.5698T>G (p.Ser1900Ala) c.5593T>G (p.Ser1865Ala) c.5584T>G (p.Ser1862Ala) c.5545T>G (p.Ser1849Ala) c.5491T>G (p.Ser1831Ala) c.5395T>G (p.Ser1799Ala) c.5365T>G (p.Ser1789Ala) c.5290T>G (p.Ser1764Ala) c.5188T>G (p.Ser1730Ala) c.4819T>G (p.Ser1607Ala) | dbSNP |
| 5 | g.112841262T= | CA1573477705 | APC | c.5722T= (p.Ser1908=) c.*5674T= (n.*5674T=) c.5614T= (p.Ser1872=) c.5668T= (p.Ser1890=) c.*4990T= (n.*4990T=) c.230+12290T= c.5698T= (p.Ser1900=) c.5593T= (p.Ser1865=) c.5584T= (p.Ser1862=) c.5545T= (p.Ser1849=) c.5491T= (p.Ser1831=) c.5395T= (p.Ser1799=) c.5365T= (p.Ser1789=) c.5290T= (p.Ser1764=) c.5188T= (p.Ser1730=) c.4819T= (p.Ser1607=) | |
| 5 | g.112841263C>A | CA16033746 | APC | c.5723C>A (p.Ser1908Ter) c.*5675C>A (n.*5675C>A) c.5615C>A (p.Ser1872Ter) c.5669C>A (p.Ser1890Ter) c.*4991C>A (n.*4991C>A) c.230+12291C>A c.5699C>A (p.Ser1900Ter) c.5594C>A (p.Ser1865Ter) c.5585C>A (p.Ser1862Ter) c.5546C>A (p.Ser1849Ter) c.5492C>A (p.Ser1831Ter) c.5396C>A (p.Ser1799Ter) c.5366C>A (p.Ser1789Ter) c.5291C>A (p.Ser1764Ter) c.5189C>A (p.Ser1730Ter) c.4820C>A (p.Ser1607Ter) | dbSNP COSMIC |
| 5 | g.112841263C= | CA1573477709 | APC | c.5723C= (p.Ser1908=) c.*5675C= (n.*5675C=) c.5615C= (p.Ser1872=) c.5669C= (p.Ser1890=) c.*4991C= (n.*4991C=) c.230+12291C= c.5699C= (p.Ser1900=) c.5594C= (p.Ser1865=) c.5585C= (p.Ser1862=) c.5546C= (p.Ser1849=) c.5492C= (p.Ser1831=) c.5396C= (p.Ser1799=) c.5366C= (p.Ser1789=) c.5291C= (p.Ser1764=) c.5189C= (p.Ser1730=) c.4820C= (p.Ser1607=) | |
| 5 | g.112841263C>G | CA16033747 | APC | c.5723C>G (p.Ser1908Ter) c.*5675C>G (n.*5675C>G) c.5615C>G (p.Ser1872Ter) c.5669C>G (p.Ser1890Ter) c.*4991C>G (n.*4991C>G) c.230+12291C>G c.5699C>G (p.Ser1900Ter) c.5594C>G (p.Ser1865Ter) c.5585C>G (p.Ser1862Ter) c.5546C>G (p.Ser1849Ter) c.5492C>G (p.Ser1831Ter) c.5396C>G (p.Ser1799Ter) c.5366C>G (p.Ser1789Ter) c.5291C>G (p.Ser1764Ter) c.5189C>G (p.Ser1730Ter) c.4820C>G (p.Ser1607Ter) | ClinVar dbSNP |
| 5 | g.112841263C>T | CA16033748 | APC | c.5723C>T (p.Ser1908Leu) c.*5675C>T (n.*5675C>T) c.5615C>T (p.Ser1872Leu) c.5669C>T (p.Ser1890Leu) c.*4991C>T (n.*4991C>T) c.230+12291C>T c.5699C>T (p.Ser1900Leu) c.5594C>T (p.Ser1865Leu) c.5585C>T (p.Ser1862Leu) c.5546C>T (p.Ser1849Leu) c.5492C>T (p.Ser1831Leu) c.5396C>T (p.Ser1799Leu) c.5366C>T (p.Ser1789Leu) c.5291C>T (p.Ser1764Leu) c.5189C>T (p.Ser1730Leu) c.4820C>T (p.Ser1607Leu) | dbSNP |