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.112841509_112842086del | CA2697546373 | APC | c.5969_6546del (p.Leu1990ProfsTer15) c.*5921_*6498del (n.*5921_*6498del) c.5861_6438del (p.Leu1954ProfsTer15) c.5915_6492del (p.Leu1972ProfsTer15) c.*5237_*5814del (n.*5237_*5814del) c.230+12537_230+13114del c.5945_6522del (p.Leu1982ProfsTer15) c.5840_6417del (p.Leu1947ProfsTer15) c.5831_6408del (p.Leu1944ProfsTer15) c.5792_6369del (p.Leu1931ProfsTer15) c.5738_6315del (p.Leu1913ProfsTer15) c.5642_6219del (p.Leu1881ProfsTer15) c.5612_6189del (p.Leu1871ProfsTer15) c.5537_6114del (p.Leu1846ProfsTer15) c.5435_6012del (p.Leu1812ProfsTer15) c.5066_5643del (p.Leu1689ProfsTer15) | ClinVar |
| 5 | g.112841509_112842085del | CA2739272572 | APC | c.5969_6545del (p.Leu1990ProfsTer5) c.*5921_*6497del (n.*5921_*6497del) c.5861_6437del (p.Leu1954ProfsTer5) c.5915_6491del (p.Leu1972ProfsTer5) c.*5237_*5813del (n.*5237_*5813del) c.230+12537_230+13113del c.5945_6521del (p.Leu1982ProfsTer5) c.5840_6416del (p.Leu1947ProfsTer5) c.5831_6407del (p.Leu1944ProfsTer5) c.5792_6368del (p.Leu1931ProfsTer5) c.5738_6314del (p.Leu1913ProfsTer5) c.5642_6218del (p.Leu1881ProfsTer5) c.5612_6188del (p.Leu1871ProfsTer5) c.5537_6113del (p.Leu1846ProfsTer5) c.5435_6011del (p.Leu1812ProfsTer5) c.5066_5642del (p.Leu1689ProfsTer5) | ClinVar |
| 5 | g.112841566_112841567delinsAG | CA1573479869 | APC | c.6026_6027delinsAG (p.Glu2009=) c.*5978_*5979delinsAG (n.*5978_*5979delinsAG) c.5918_5919delinsAG (p.Glu1973=) c.5972_5973delinsAG (p.Glu1991=) c.*5294_*5295delinsAG (n.*5294_*5295delinsAG) c.230+12594_230+12595delinsAG c.6002_6003delinsAG (p.Glu2001=) c.5897_5898delinsAG (p.Glu1966=) c.5888_5889delinsAG (p.Glu1963=) c.5849_5850delinsAG (p.Glu1950=) c.5795_5796delinsAG (p.Glu1932=) c.5699_5700delinsAG (p.Glu1900=) c.5669_5670delinsAG (p.Glu1890=) c.5594_5595delinsAG (p.Glu1865=) c.5492_5493delinsAG (p.Glu1831=) c.5123_5124delinsAG (p.Glu1708=) | |
| 5 | g.112841567del | CA10578416 | APC | c.6027del (p.Glu2009AspfsTer?) c.*5979del (n.*5979del) c.5919del (p.Glu1973AspfsTer?) c.5973del (p.Glu1991AspfsTer?) c.*5295del (n.*5295del) c.230+12595del c.6003del (p.Glu2001AspfsTer?) c.5898del (p.Glu1966AspfsTer?) c.5889del (p.Glu1963AspfsTer?) c.5850del (p.Glu1950AspfsTer?) c.5796del (p.Glu1932AspfsTer?) c.5700del (p.Glu1900AspfsTer?) c.5670del (p.Glu1890AspfsTer?) c.5595del (p.Glu1865AspfsTer?) c.5493del (p.Glu1831AspfsTer?) c.5124del (p.Glu1708AspfsTer?) | ClinVar dbSNP |
| 5 | g.112841567G>A | CA446210099 | APC | c.6027G>A (p.Glu2009=) c.*5979G>A (n.*5979G>A) c.5919G>A (p.Glu1973=) c.5973G>A (p.Glu1991=) c.*5295G>A (n.*5295G>A) c.230+12595G>A c.6003G>A (p.Glu2001=) c.5898G>A (p.Glu1966=) c.5889G>A (p.Glu1963=) c.5850G>A (p.Glu1950=) c.5796G>A (p.Glu1932=) c.5700G>A (p.Glu1900=) c.5670G>A (p.Glu1890=) c.5595G>A (p.Glu1865=) c.5493G>A (p.Glu1831=) c.5124G>A (p.Glu1708=) | ClinVar dbSNP |
| 5 | g.112841567G>C | CA16034408 | APC | c.6027G>C (p.Glu2009Asp) c.*5979G>C (n.*5979G>C) c.5919G>C (p.Glu1973Asp) c.5973G>C (p.Glu1991Asp) c.*5295G>C (n.*5295G>C) c.230+12595G>C c.6003G>C (p.Glu2001Asp) c.5898G>C (p.Glu1966Asp) c.5889G>C (p.Glu1963Asp) c.5850G>C (p.Glu1950Asp) c.5796G>C (p.Glu1932Asp) c.5700G>C (p.Glu1900Asp) c.5670G>C (p.Glu1890Asp) c.5595G>C (p.Glu1865Asp) c.5493G>C (p.Glu1831Asp) c.5124G>C (p.Glu1708Asp) | dbSNP |
| 5 | g.112841567G= | CA1573479890 | APC | c.6027G= (p.Glu2009=) c.*5979G= (n.*5979G=) c.5919G= (p.Glu1973=) c.5973G= (p.Glu1991=) c.*5295G= (n.*5295G=) c.230+12595G= c.6003G= (p.Glu2001=) c.5898G= (p.Glu1966=) c.5889G= (p.Glu1963=) c.5850G= (p.Glu1950=) c.5796G= (p.Glu1932=) c.5700G= (p.Glu1900=) c.5670G= (p.Glu1890=) c.5595G= (p.Glu1865=) c.5493G= (p.Glu1831=) c.5124G= (p.Glu1708=) | |
| 5 | g.112841567G>T | CA16034409 | APC | c.6027G>T (p.Glu2009Asp) c.*5979G>T (n.*5979G>T) c.5919G>T (p.Glu1973Asp) c.5973G>T (p.Glu1991Asp) c.*5295G>T (n.*5295G>T) c.230+12595G>T c.6003G>T (p.Glu2001Asp) c.5898G>T (p.Glu1966Asp) c.5889G>T (p.Glu1963Asp) c.5850G>T (p.Glu1950Asp) c.5796G>T (p.Glu1932Asp) c.5700G>T (p.Glu1900Asp) c.5670G>T (p.Glu1890Asp) c.5595G>T (p.Glu1865Asp) c.5493G>T (p.Glu1831Asp) c.5124G>T (p.Glu1708Asp) | |
| 5 | g.112841567_112841568delinsGC | CA1573479889 | APC | c.6027_6028delinsGC (p.Glu2009=) c.*5979_*5980delinsGC (n.*5979_*5980delinsGC) c.5919_5920delinsGC (p.Glu1973=) c.5973_5974delinsGC (p.Glu1991=) c.*5295_*5296delinsGC (n.*5295_*5296delinsGC) c.230+12595_230+12596delinsGC c.6003_6004delinsGC (p.Glu2001=) c.5898_5899delinsGC (p.Glu1966=) c.5889_5890delinsGC (p.Glu1963=) c.5850_5851delinsGC (p.Glu1950=) c.5796_5797delinsGC (p.Glu1932=) c.5700_5701delinsGC (p.Glu1900=) c.5670_5671delinsGC (p.Glu1890=) c.5595_5596delinsGC (p.Glu1865=) c.5493_5494delinsGC (p.Glu1831=) c.5124_5125delinsGC (p.Glu1708=) | |
| 5 | g.112841568C>A | CA16034410 | APC | c.6028C>A (p.Pro2010Thr) c.*5980C>A (n.*5980C>A) c.5920C>A (p.Pro1974Thr) c.5974C>A (p.Pro1992Thr) c.*5296C>A (n.*5296C>A) c.230+12596C>A c.6004C>A (p.Pro2002Thr) c.5899C>A (p.Pro1967Thr) c.5890C>A (p.Pro1964Thr) c.5851C>A (p.Pro1951Thr) c.5797C>A (p.Pro1933Thr) c.5701C>A (p.Pro1901Thr) c.5671C>A (p.Pro1891Thr) c.5596C>A (p.Pro1866Thr) c.5494C>A (p.Pro1832Thr) c.5125C>A (p.Pro1709Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841568C= | CA1573479905 | APC | c.6028C= (p.Pro2010=) c.*5980C= (n.*5980C=) c.5920C= (p.Pro1974=) c.5974C= (p.Pro1992=) c.*5296C= (n.*5296C=) c.230+12596C= c.6004C= (p.Pro2002=) c.5899C= (p.Pro1967=) c.5890C= (p.Pro1964=) c.5851C= (p.Pro1951=) c.5797C= (p.Pro1933=) c.5701C= (p.Pro1901=) c.5671C= (p.Pro1891=) c.5596C= (p.Pro1866=) c.5494C= (p.Pro1832=) c.5125C= (p.Pro1709=) | |
| 5 | g.112841568C>G | CA16034411 | APC | c.6028C>G (p.Pro2010Ala) c.*5980C>G (n.*5980C>G) c.5920C>G (p.Pro1974Ala) c.5974C>G (p.Pro1992Ala) c.*5296C>G (n.*5296C>G) c.230+12596C>G c.6004C>G (p.Pro2002Ala) c.5899C>G (p.Pro1967Ala) c.5890C>G (p.Pro1964Ala) c.5851C>G (p.Pro1951Ala) c.5797C>G (p.Pro1933Ala) c.5701C>G (p.Pro1901Ala) c.5671C>G (p.Pro1891Ala) c.5596C>G (p.Pro1866Ala) c.5494C>G (p.Pro1832Ala) c.5125C>G (p.Pro1709Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841568C>T | CA043556 | APC | c.6028C>T (p.Pro2010Ser) c.*5980C>T (n.*5980C>T) c.5920C>T (p.Pro1974Ser) c.5974C>T (p.Pro1992Ser) c.*5296C>T (n.*5296C>T) c.230+12596C>T c.6004C>T (p.Pro2002Ser) c.5899C>T (p.Pro1967Ser) c.5890C>T (p.Pro1964Ser) c.5851C>T (p.Pro1951Ser) c.5797C>T (p.Pro1933Ser) c.5701C>T (p.Pro1901Ser) c.5671C>T (p.Pro1891Ser) c.5596C>T (p.Pro1866Ser) c.5494C>T (p.Pro1832Ser) c.5125C>T (p.Pro1709Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112841572del | CA645372801 | APC | c.6032del (p.Pro2011LeufsTer?) c.*5984del (n.*5984del) c.5924del (p.Pro1975LeufsTer?) c.5978del (p.Pro1993LeufsTer?) c.*5300del (n.*5300del) c.230+12600del c.6008del (p.Pro2003LeufsTer?) c.5903del (p.Pro1968LeufsTer?) c.5894del (p.Pro1965LeufsTer?) c.5855del (p.Pro1952LeufsTer?) c.5801del (p.Pro1934LeufsTer?) c.5705del (p.Pro1902LeufsTer?) c.5675del (p.Pro1892LeufsTer?) c.5600del (p.Pro1867LeufsTer?) c.5498del (p.Pro1833LeufsTer?) c.5129del (p.Pro1710LeufsTer?) | ClinVar dbSNP |
| 5 | g.112841569C>A | CA16034412 | APC | c.6029C>A (p.Pro2010His) c.*5981C>A (n.*5981C>A) c.5921C>A (p.Pro1974His) c.5975C>A (p.Pro1992His) c.*5297C>A (n.*5297C>A) c.230+12597C>A c.6005C>A (p.Pro2002His) c.5900C>A (p.Pro1967His) c.5891C>A (p.Pro1964His) c.5852C>A (p.Pro1951His) c.5798C>A (p.Pro1933His) c.5702C>A (p.Pro1901His) c.5672C>A (p.Pro1891His) c.5597C>A (p.Pro1866His) c.5495C>A (p.Pro1832His) c.5126C>A (p.Pro1709His) | dbSNP |
| 5 | g.112841569C= | CA1573479920 | APC | c.6029C= (p.Pro2010=) c.*5981C= (n.*5981C=) c.5921C= (p.Pro1974=) c.5975C= (p.Pro1992=) c.*5297C= (n.*5297C=) c.230+12597C= c.6005C= (p.Pro2002=) c.5900C= (p.Pro1967=) c.5891C= (p.Pro1964=) c.5852C= (p.Pro1951=) c.5798C= (p.Pro1933=) c.5702C= (p.Pro1901=) c.5672C= (p.Pro1891=) c.5597C= (p.Pro1866=) c.5495C= (p.Pro1832=) c.5126C= (p.Pro1709=) | |
| 5 | g.112841569C>G | CA16034413 | APC | c.6029C>G (p.Pro2010Arg) c.*5981C>G (n.*5981C>G) c.5921C>G (p.Pro1974Arg) c.5975C>G (p.Pro1992Arg) c.*5297C>G (n.*5297C>G) c.230+12597C>G c.6005C>G (p.Pro2002Arg) c.5900C>G (p.Pro1967Arg) c.5891C>G (p.Pro1964Arg) c.5852C>G (p.Pro1951Arg) c.5798C>G (p.Pro1933Arg) c.5702C>G (p.Pro1901Arg) c.5672C>G (p.Pro1891Arg) c.5597C>G (p.Pro1866Arg) c.5495C>G (p.Pro1832Arg) c.5126C>G (p.Pro1709Arg) | dbSNP |
| 5 | g.112841569C>T | CA16034414 | APC | c.6029C>T (p.Pro2010Leu) c.*5981C>T (n.*5981C>T) c.5921C>T (p.Pro1974Leu) c.5975C>T (p.Pro1992Leu) c.*5297C>T (n.*5297C>T) c.230+12597C>T c.6005C>T (p.Pro2002Leu) c.5900C>T (p.Pro1967Leu) c.5891C>T (p.Pro1964Leu) c.5852C>T (p.Pro1951Leu) c.5798C>T (p.Pro1933Leu) c.5702C>T (p.Pro1901Leu) c.5672C>T (p.Pro1891Leu) c.5597C>T (p.Pro1866Leu) c.5495C>T (p.Pro1832Leu) c.5126C>T (p.Pro1709Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841570C>A | CA043569 | APC | c.6030C>A (p.Pro2010=) c.*5982C>A (n.*5982C>A) c.5922C>A (p.Pro1974=) c.5976C>A (p.Pro1992=) c.*5298C>A (n.*5298C>A) c.230+12598C>A c.6006C>A (p.Pro2002=) c.5901C>A (p.Pro1967=) c.5892C>A (p.Pro1964=) c.5853C>A (p.Pro1951=) c.5799C>A (p.Pro1933=) c.5703C>A (p.Pro1901=) c.5673C>A (p.Pro1891=) c.5598C>A (p.Pro1866=) c.5496C>A (p.Pro1832=) c.5127C>A (p.Pro1709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841570C= | CA1573479931 | APC | c.6030C= (p.Pro2010=) c.*5982C= (n.*5982C=) c.5922C= (p.Pro1974=) c.5976C= (p.Pro1992=) c.*5298C= (n.*5298C=) c.230+12598C= c.6006C= (p.Pro2002=) c.5901C= (p.Pro1967=) c.5892C= (p.Pro1964=) c.5853C= (p.Pro1951=) c.5799C= (p.Pro1933=) c.5703C= (p.Pro1901=) c.5673C= (p.Pro1891=) c.5598C= (p.Pro1866=) c.5496C= (p.Pro1832=) c.5127C= (p.Pro1709=) | |
| 5 | g.112841570C>G | CA446210100 | APC | c.6030C>G (p.Pro2010=) c.*5982C>G (n.*5982C>G) c.5922C>G (p.Pro1974=) c.5976C>G (p.Pro1992=) c.*5298C>G (n.*5298C>G) c.230+12598C>G c.6006C>G (p.Pro2002=) c.5901C>G (p.Pro1967=) c.5892C>G (p.Pro1964=) c.5853C>G (p.Pro1951=) c.5799C>G (p.Pro1933=) c.5703C>G (p.Pro1901=) c.5673C>G (p.Pro1891=) c.5598C>G (p.Pro1866=) c.5496C>G (p.Pro1832=) c.5127C>G (p.Pro1709=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841570C>T | CA16611719 | APC | c.6030C>T (p.Pro2010=) c.*5982C>T (n.*5982C>T) c.5922C>T (p.Pro1974=) c.5976C>T (p.Pro1992=) c.*5298C>T (n.*5298C>T) c.230+12598C>T c.6006C>T (p.Pro2002=) c.5901C>T (p.Pro1967=) c.5892C>T (p.Pro1964=) c.5853C>T (p.Pro1951=) c.5799C>T (p.Pro1933=) c.5703C>T (p.Pro1901=) c.5673C>T (p.Pro1891=) c.5598C>T (p.Pro1866=) c.5496C>T (p.Pro1832=) c.5127C>T (p.Pro1709=) | ClinVar dbSNP |
| 5 | g.112841571C>A | CA16034415 | APC | c.6031C>A (p.Pro2011Thr) c.*5983C>A (n.*5983C>A) c.5923C>A (p.Pro1975Thr) c.5977C>A (p.Pro1993Thr) c.*5299C>A (n.*5299C>A) c.230+12599C>A c.6007C>A (p.Pro2003Thr) c.5902C>A (p.Pro1968Thr) c.5893C>A (p.Pro1965Thr) c.5854C>A (p.Pro1952Thr) c.5800C>A (p.Pro1934Thr) c.5704C>A (p.Pro1902Thr) c.5674C>A (p.Pro1892Thr) c.5599C>A (p.Pro1867Thr) c.5497C>A (p.Pro1833Thr) c.5128C>A (p.Pro1710Thr) | dbSNP gnomAD v4 |
| 5 | g.112841571C= | CA1573479939 | APC | c.6031C= (p.Pro2011=) c.*5983C= (n.*5983C=) c.5923C= (p.Pro1975=) c.5977C= (p.Pro1993=) c.*5299C= (n.*5299C=) c.230+12599C= c.6007C= (p.Pro2003=) c.5902C= (p.Pro1968=) c.5893C= (p.Pro1965=) c.5854C= (p.Pro1952=) c.5800C= (p.Pro1934=) c.5704C= (p.Pro1902=) c.5674C= (p.Pro1892=) c.5599C= (p.Pro1867=) c.5497C= (p.Pro1833=) c.5128C= (p.Pro1710=) | |
| 5 | g.112841571C>G | CA16034416 | APC | c.6031C>G (p.Pro2011Ala) c.*5983C>G (n.*5983C>G) c.5923C>G (p.Pro1975Ala) c.5977C>G (p.Pro1993Ala) c.*5299C>G (n.*5299C>G) c.230+12599C>G c.6007C>G (p.Pro2003Ala) c.5902C>G (p.Pro1968Ala) c.5893C>G (p.Pro1965Ala) c.5854C>G (p.Pro1952Ala) c.5800C>G (p.Pro1934Ala) c.5704C>G (p.Pro1902Ala) c.5674C>G (p.Pro1892Ala) c.5599C>G (p.Pro1867Ala) c.5497C>G (p.Pro1833Ala) c.5128C>G (p.Pro1710Ala) | dbSNP |
| 5 | g.112841571C>T | CA16034417 | APC | c.6031C>T (p.Pro2011Ser) c.*5983C>T (n.*5983C>T) c.5923C>T (p.Pro1975Ser) c.5977C>T (p.Pro1993Ser) c.*5299C>T (n.*5299C>T) c.230+12599C>T c.6007C>T (p.Pro2003Ser) c.5902C>T (p.Pro1968Ser) c.5893C>T (p.Pro1965Ser) c.5854C>T (p.Pro1952Ser) c.5800C>T (p.Pro1934Ser) c.5704C>T (p.Pro1902Ser) c.5674C>T (p.Pro1892Ser) c.5599C>T (p.Pro1867Ser) c.5497C>T (p.Pro1833Ser) c.5128C>T (p.Pro1710Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841572C>A | CA16034418 | APC | c.6032C>A (p.Pro2011His) c.*5984C>A (n.*5984C>A) c.5924C>A (p.Pro1975His) c.5978C>A (p.Pro1993His) c.*5300C>A (n.*5300C>A) c.230+12600C>A c.6008C>A (p.Pro2003His) c.5903C>A (p.Pro1968His) c.5894C>A (p.Pro1965His) c.5855C>A (p.Pro1952His) c.5801C>A (p.Pro1934His) c.5705C>A (p.Pro1902His) c.5675C>A (p.Pro1892His) c.5600C>A (p.Pro1867His) c.5498C>A (p.Pro1833His) c.5129C>A (p.Pro1710His) | dbSNP |
| 5 | g.112841572C= | CA1573479946 | APC | c.6032C= (p.Pro2011=) c.*5984C= (n.*5984C=) c.5924C= (p.Pro1975=) c.5978C= (p.Pro1993=) c.*5300C= (n.*5300C=) c.230+12600C= c.6008C= (p.Pro2003=) c.5903C= (p.Pro1968=) c.5894C= (p.Pro1965=) c.5855C= (p.Pro1952=) c.5801C= (p.Pro1934=) c.5705C= (p.Pro1902=) c.5675C= (p.Pro1892=) c.5600C= (p.Pro1867=) c.5498C= (p.Pro1833=) c.5129C= (p.Pro1710=) | |
| 5 | g.112841572C>G | CA16034419 | APC | c.6032C>G (p.Pro2011Arg) c.*5984C>G (n.*5984C>G) c.5924C>G (p.Pro1975Arg) c.5978C>G (p.Pro1993Arg) c.*5300C>G (n.*5300C>G) c.230+12600C>G c.6008C>G (p.Pro2003Arg) c.5903C>G (p.Pro1968Arg) c.5894C>G (p.Pro1965Arg) c.5855C>G (p.Pro1952Arg) c.5801C>G (p.Pro1934Arg) c.5705C>G (p.Pro1902Arg) c.5675C>G (p.Pro1892Arg) c.5600C>G (p.Pro1867Arg) c.5498C>G (p.Pro1833Arg) c.5129C>G (p.Pro1710Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841572C>T | CA16034420 | APC | c.6032C>T (p.Pro2011Leu) c.*5984C>T (n.*5984C>T) c.5924C>T (p.Pro1975Leu) c.5978C>T (p.Pro1993Leu) c.*5300C>T (n.*5300C>T) c.230+12600C>T c.6008C>T (p.Pro2003Leu) c.5903C>T (p.Pro1968Leu) c.5894C>T (p.Pro1965Leu) c.5855C>T (p.Pro1952Leu) c.5801C>T (p.Pro1934Leu) c.5705C>T (p.Pro1902Leu) c.5675C>T (p.Pro1892Leu) c.5600C>T (p.Pro1867Leu) c.5498C>T (p.Pro1833Leu) c.5129C>T (p.Pro1710Leu) | ClinVar dbSNP |
| 5 | g.112841572_112841573delinsCT | CA1573479951 | APC | c.6032_6033delinsCT (p.Pro2011=) c.*5984_*5985delinsCT (n.*5984_*5985delinsCT) c.5924_5925delinsCT (p.Pro1975=) c.5978_5979delinsCT (p.Pro1993=) c.*5300_*5301delinsCT (n.*5300_*5301delinsCT) c.230+12600_230+12601delinsCT c.6008_6009delinsCT (p.Pro2003=) c.5903_5904delinsCT (p.Pro1968=) c.5894_5895delinsCT (p.Pro1965=) c.5855_5856delinsCT (p.Pro1952=) c.5801_5802delinsCT (p.Pro1934=) c.5705_5706delinsCT (p.Pro1902=) c.5675_5676delinsCT (p.Pro1892=) c.5600_5601delinsCT (p.Pro1867=) c.5498_5499delinsCT (p.Pro1833=) c.5129_5130delinsCT (p.Pro1710=) | |
| 5 | g.112841574_112841577dup | CA2573138686 | APC | c.6034_6037dup (p.Ser2013Ter) c.*5986_*5989dup (n.*5986_*5989dup) c.5926_5929dup (p.Ser1977Ter) c.5980_5983dup (p.Ser1995Ter) c.*5302_*5305dup (n.*5302_*5305dup) c.230+12602_230+12605dup c.6010_6013dup (p.Ser2005Ter) c.5905_5908dup (p.Ser1970Ter) c.5896_5899dup (p.Ser1967Ter) c.5857_5860dup (p.Ser1954Ter) c.5803_5806dup (p.Ser1936Ter) c.5707_5710dup (p.Ser1904Ter) c.5677_5680dup (p.Ser1894Ter) c.5602_5605dup (p.Ser1869Ter) c.5500_5503dup (p.Ser1835Ter) c.5131_5134dup (p.Ser1712Ter) | ClinVar dbSNP |
| 5 | g.112841573del | CA916079927 | APC | c.6033del (p.Asp2012ThrfsTer?) c.*5985del (n.*5985del) c.5925del (p.Asp1976ThrfsTer?) c.5979del (p.Asp1994ThrfsTer?) c.*5301del (n.*5301del) c.230+12601del c.6009del (p.Asp2004ThrfsTer?) c.5904del (p.Asp1969ThrfsTer?) c.5895del (p.Asp1966ThrfsTer?) c.5856del (p.Asp1953ThrfsTer?) c.5802del (p.Asp1935ThrfsTer?) c.5706del (p.Asp1903ThrfsTer?) c.5676del (p.Asp1893ThrfsTer?) c.5601del (p.Asp1868ThrfsTer?) c.5499del (p.Asp1834ThrfsTer?) c.5130del (p.Asp1711ThrfsTer?) | ClinVar dbSNP |
| 5 | g.112841573T>A | CA446210102 | APC | c.6033T>A (p.Pro2011=) c.*5985T>A (n.*5985T>A) c.5925T>A (p.Pro1975=) c.5979T>A (p.Pro1993=) c.*5301T>A (n.*5301T>A) c.230+12601T>A c.6009T>A (p.Pro2003=) c.5904T>A (p.Pro1968=) c.5895T>A (p.Pro1965=) c.5856T>A (p.Pro1952=) c.5802T>A (p.Pro1934=) c.5706T>A (p.Pro1902=) c.5676T>A (p.Pro1892=) c.5601T>A (p.Pro1867=) c.5499T>A (p.Pro1833=) c.5130T>A (p.Pro1710=) | dbSNP |
| 5 | g.112841573T>C | CA446210103 | APC | c.6033T>C (p.Pro2011=) c.*5985T>C (n.*5985T>C) c.5925T>C (p.Pro1975=) c.5979T>C (p.Pro1993=) c.*5301T>C (n.*5301T>C) c.230+12601T>C c.6009T>C (p.Pro2003=) c.5904T>C (p.Pro1968=) c.5895T>C (p.Pro1965=) c.5856T>C (p.Pro1952=) c.5802T>C (p.Pro1934=) c.5706T>C (p.Pro1902=) c.5676T>C (p.Pro1892=) c.5601T>C (p.Pro1867=) c.5499T>C (p.Pro1833=) c.5130T>C (p.Pro1710=) | dbSNP |
| 5 | g.112841573T>G | CA446210104 | APC | c.6033T>G (p.Pro2011=) c.*5985T>G (n.*5985T>G) c.5925T>G (p.Pro1975=) c.5979T>G (p.Pro1993=) c.*5301T>G (n.*5301T>G) c.230+12601T>G c.6009T>G (p.Pro2003=) c.5904T>G (p.Pro1968=) c.5895T>G (p.Pro1965=) c.5856T>G (p.Pro1952=) c.5802T>G (p.Pro1934=) c.5706T>G (p.Pro1902=) c.5676T>G (p.Pro1892=) c.5601T>G (p.Pro1867=) c.5499T>G (p.Pro1833=) c.5130T>G (p.Pro1710=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841573T= | CA1573479962 | APC | c.6033T= (p.Pro2011=) c.*5985T= (n.*5985T=) c.5925T= (p.Pro1975=) c.5979T= (p.Pro1993=) c.*5301T= (n.*5301T=) c.230+12601T= c.6009T= (p.Pro2003=) c.5904T= (p.Pro1968=) c.5895T= (p.Pro1965=) c.5856T= (p.Pro1952=) c.5802T= (p.Pro1934=) c.5706T= (p.Pro1902=) c.5676T= (p.Pro1892=) c.5601T= (p.Pro1867=) c.5499T= (p.Pro1833=) c.5130T= (p.Pro1710=) | |
| 5 | g.112841574del | CA2697546374 | APC | c.6034del (p.Asp2012ThrfsTer?) c.*5986del (n.*5986del) c.5926del (p.Asp1976ThrfsTer?) c.5980del (p.Asp1994ThrfsTer?) c.*5302del (n.*5302del) c.230+12602del c.6010del (p.Asp2004ThrfsTer?) c.5905del (p.Asp1969ThrfsTer?) c.5896del (p.Asp1966ThrfsTer?) c.5857del (p.Asp1953ThrfsTer?) c.5803del (p.Asp1935ThrfsTer?) c.5707del (p.Asp1903ThrfsTer?) c.5677del (p.Asp1893ThrfsTer?) c.5602del (p.Asp1868ThrfsTer?) c.5500del (p.Asp1834ThrfsTer?) c.5131del (p.Asp1711ThrfsTer?) | ClinVar |
| 5 | g.112841574G>A | CA16034421 | APC | c.6034G>A (p.Asp2012Asn) c.*5986G>A (n.*5986G>A) c.5926G>A (p.Asp1976Asn) c.5980G>A (p.Asp1994Asn) c.*5302G>A (n.*5302G>A) c.230+12602G>A c.6010G>A (p.Asp2004Asn) c.5905G>A (p.Asp1969Asn) c.5896G>A (p.Asp1966Asn) c.5857G>A (p.Asp1953Asn) c.5803G>A (p.Asp1935Asn) c.5707G>A (p.Asp1903Asn) c.5677G>A (p.Asp1893Asn) c.5602G>A (p.Asp1868Asn) c.5500G>A (p.Asp1834Asn) c.5131G>A (p.Asp1711Asn) | dbSNP |
| 5 | g.112841574G>C | CA16034422 | APC | c.6034G>C (p.Asp2012His) c.*5986G>C (n.*5986G>C) c.5926G>C (p.Asp1976His) c.5980G>C (p.Asp1994His) c.*5302G>C (n.*5302G>C) c.230+12602G>C c.6010G>C (p.Asp2004His) c.5905G>C (p.Asp1969His) c.5896G>C (p.Asp1966His) c.5857G>C (p.Asp1953His) c.5803G>C (p.Asp1935His) c.5707G>C (p.Asp1903His) c.5677G>C (p.Asp1893His) c.5602G>C (p.Asp1868His) c.5500G>C (p.Asp1834His) c.5131G>C (p.Asp1711His) | dbSNP |
| 5 | g.112841574G>T | CA16034423 | APC | c.6034G>T (p.Asp2012Tyr) c.*5986G>T (n.*5986G>T) c.5926G>T (p.Asp1976Tyr) c.5980G>T (p.Asp1994Tyr) c.*5302G>T (n.*5302G>T) c.230+12602G>T c.6010G>T (p.Asp2004Tyr) c.5905G>T (p.Asp1969Tyr) c.5896G>T (p.Asp1966Tyr) c.5857G>T (p.Asp1953Tyr) c.5803G>T (p.Asp1935Tyr) c.5707G>T (p.Asp1903Tyr) c.5677G>T (p.Asp1893Tyr) c.5602G>T (p.Asp1868Tyr) c.5500G>T (p.Asp1834Tyr) c.5131G>T (p.Asp1711Tyr) | |
| 5 | g.112841575A= | CA1573479970 | APC | c.6035A= (p.Asp2012=) c.*5987A= (n.*5987A=) c.5927A= (p.Asp1976=) c.5981A= (p.Asp1994=) c.*5303A= (n.*5303A=) c.230+12603A= c.6011A= (p.Asp2004=) c.5906A= (p.Asp1969=) c.5897A= (p.Asp1966=) c.5858A= (p.Asp1953=) c.5804A= (p.Asp1935=) c.5708A= (p.Asp1903=) c.5678A= (p.Asp1893=) c.5603A= (p.Asp1868=) c.5501A= (p.Asp1834=) c.5132A= (p.Asp1711=) | |
| 5 | g.112841575A>C | CA16034424 | APC | c.6035A>C (p.Asp2012Ala) c.*5987A>C (n.*5987A>C) c.5927A>C (p.Asp1976Ala) c.5981A>C (p.Asp1994Ala) c.*5303A>C (n.*5303A>C) c.230+12603A>C c.6011A>C (p.Asp2004Ala) c.5906A>C (p.Asp1969Ala) c.5897A>C (p.Asp1966Ala) c.5858A>C (p.Asp1953Ala) c.5804A>C (p.Asp1935Ala) c.5708A>C (p.Asp1903Ala) c.5678A>C (p.Asp1893Ala) c.5603A>C (p.Asp1868Ala) c.5501A>C (p.Asp1834Ala) c.5132A>C (p.Asp1711Ala) | dbSNP |
| 5 | g.112841575A>G | CA16034425 | APC | c.6035A>G (p.Asp2012Gly) c.*5987A>G (n.*5987A>G) c.5927A>G (p.Asp1976Gly) c.5981A>G (p.Asp1994Gly) c.*5303A>G (n.*5303A>G) c.230+12603A>G c.6011A>G (p.Asp2004Gly) c.5906A>G (p.Asp1969Gly) c.5897A>G (p.Asp1966Gly) c.5858A>G (p.Asp1953Gly) c.5804A>G (p.Asp1935Gly) c.5708A>G (p.Asp1903Gly) c.5678A>G (p.Asp1893Gly) c.5603A>G (p.Asp1868Gly) c.5501A>G (p.Asp1834Gly) c.5132A>G (p.Asp1711Gly) | ClinVar dbSNP |
| 5 | g.112841575A>T | CA043598 | APC | c.6035A>T (p.Asp2012Val) c.*5987A>T (n.*5987A>T) c.5927A>T (p.Asp1976Val) c.5981A>T (p.Asp1994Val) c.*5303A>T (n.*5303A>T) c.230+12603A>T c.6011A>T (p.Asp2004Val) c.5906A>T (p.Asp1969Val) c.5897A>T (p.Asp1966Val) c.5858A>T (p.Asp1953Val) c.5804A>T (p.Asp1935Val) c.5708A>T (p.Asp1903Val) c.5678A>T (p.Asp1893Val) c.5603A>T (p.Asp1868Val) c.5501A>T (p.Asp1834Val) c.5132A>T (p.Asp1711Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841576C>A | CA16034426 | APC | c.6036C>A (p.Asp2012Glu) c.*5988C>A (n.*5988C>A) c.5928C>A (p.Asp1976Glu) c.5982C>A (p.Asp1994Glu) c.*5304C>A (n.*5304C>A) c.230+12604C>A c.6012C>A (p.Asp2004Glu) c.5907C>A (p.Asp1969Glu) c.5898C>A (p.Asp1966Glu) c.5859C>A (p.Asp1953Glu) c.5805C>A (p.Asp1935Glu) c.5709C>A (p.Asp1903Glu) c.5679C>A (p.Asp1893Glu) c.5604C>A (p.Asp1868Glu) c.5502C>A (p.Asp1834Glu) c.5133C>A (p.Asp1711Glu) | ClinVar dbSNP |
| 5 | g.112841576C= | CA1573479978 | APC | c.6036C= (p.Asp2012=) c.*5988C= (n.*5988C=) c.5928C= (p.Asp1976=) c.5982C= (p.Asp1994=) c.*5304C= (n.*5304C=) c.230+12604C= c.6012C= (p.Asp2004=) c.5907C= (p.Asp1969=) c.5898C= (p.Asp1966=) c.5859C= (p.Asp1953=) c.5805C= (p.Asp1935=) c.5709C= (p.Asp1903=) c.5679C= (p.Asp1893=) c.5604C= (p.Asp1868=) c.5502C= (p.Asp1834=) c.5133C= (p.Asp1711=) | |
| 5 | g.112841576C>G | CA043621 | APC | c.6036C>G (p.Asp2012Glu) c.*5988C>G (n.*5988C>G) c.5928C>G (p.Asp1976Glu) c.5982C>G (p.Asp1994Glu) c.*5304C>G (n.*5304C>G) c.230+12604C>G c.6012C>G (p.Asp2004Glu) c.5907C>G (p.Asp1969Glu) c.5898C>G (p.Asp1966Glu) c.5859C>G (p.Asp1953Glu) c.5805C>G (p.Asp1935Glu) c.5709C>G (p.Asp1903Glu) c.5679C>G (p.Asp1893Glu) c.5604C>G (p.Asp1868Glu) c.5502C>G (p.Asp1834Glu) c.5133C>G (p.Asp1711Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841576C>T | CA446210105 | APC | c.6036C>T (p.Asp2012=) c.*5988C>T (n.*5988C>T) c.5928C>T (p.Asp1976=) c.5982C>T (p.Asp1994=) c.*5304C>T (n.*5304C>T) c.230+12604C>T c.6012C>T (p.Asp2004=) c.5907C>T (p.Asp1969=) c.5898C>T (p.Asp1966=) c.5859C>T (p.Asp1953=) c.5805C>T (p.Asp1935=) c.5709C>T (p.Asp1903=) c.5679C>T (p.Asp1893=) c.5604C>T (p.Asp1868=) c.5502C>T (p.Asp1834=) c.5133C>T (p.Asp1711=) | ClinVar dbSNP |