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.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.112841467del | CA658760806 | APC | c.5927del (p.Asn1976IlefsTer12) c.*5879del (n.*5879del) c.5819del (p.Asn1940IlefsTer12) c.5873del (p.Asn1958IlefsTer12) c.*5195del (n.*5195del) c.230+12495del c.5903del (p.Asn1968IlefsTer12) c.5798del (p.Asn1933IlefsTer12) c.5789del (p.Asn1930IlefsTer12) c.5750del (p.Asn1917IlefsTer12) c.5696del (p.Asn1899IlefsTer12) c.5600del (p.Asn1867IlefsTer12) c.5570del (p.Asn1857IlefsTer12) c.5495del (p.Asn1832IlefsTer12) c.5393del (p.Asn1798IlefsTer12) c.5024del (p.Asn1675IlefsTer12) | |
| 5 | g.112841467A= | CA1573479168 | APC | c.5927A= (p.Asn1976=) c.*5879A= (n.*5879A=) c.5819A= (p.Asn1940=) c.5873A= (p.Asn1958=) c.*5195A= (n.*5195A=) c.230+12495A= c.5903A= (p.Asn1968=) c.5798A= (p.Asn1933=) c.5789A= (p.Asn1930=) c.5750A= (p.Asn1917=) c.5696A= (p.Asn1899=) c.5600A= (p.Asn1867=) c.5570A= (p.Asn1857=) c.5495A= (p.Asn1832=) c.5393A= (p.Asn1798=) c.5024A= (p.Asn1675=) | |
| 5 | g.112841467A>C | CA16034181 | APC | c.5927A>C (p.Asn1976Thr) c.*5879A>C (n.*5879A>C) c.5819A>C (p.Asn1940Thr) c.5873A>C (p.Asn1958Thr) c.*5195A>C (n.*5195A>C) c.230+12495A>C c.5903A>C (p.Asn1968Thr) c.5798A>C (p.Asn1933Thr) c.5789A>C (p.Asn1930Thr) c.5750A>C (p.Asn1917Thr) c.5696A>C (p.Asn1899Thr) c.5600A>C (p.Asn1867Thr) c.5570A>C (p.Asn1857Thr) c.5495A>C (p.Asn1832Thr) c.5393A>C (p.Asn1798Thr) c.5024A>C (p.Asn1675Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841467A>G | CA16034182 | APC | c.5927A>G (p.Asn1976Ser) c.*5879A>G (n.*5879A>G) c.5819A>G (p.Asn1940Ser) c.5873A>G (p.Asn1958Ser) c.*5195A>G (n.*5195A>G) c.230+12495A>G c.5903A>G (p.Asn1968Ser) c.5798A>G (p.Asn1933Ser) c.5789A>G (p.Asn1930Ser) c.5750A>G (p.Asn1917Ser) c.5696A>G (p.Asn1899Ser) c.5600A>G (p.Asn1867Ser) c.5570A>G (p.Asn1857Ser) c.5495A>G (p.Asn1832Ser) c.5393A>G (p.Asn1798Ser) c.5024A>G (p.Asn1675Ser) | ClinVar dbSNP |
| 5 | g.112841467A>T | CA16034183 | APC | c.5927A>T (p.Asn1976Ile) c.*5879A>T (n.*5879A>T) c.5819A>T (p.Asn1940Ile) c.5873A>T (p.Asn1958Ile) c.*5195A>T (n.*5195A>T) c.230+12495A>T c.5903A>T (p.Asn1968Ile) c.5798A>T (p.Asn1933Ile) c.5789A>T (p.Asn1930Ile) c.5750A>T (p.Asn1917Ile) c.5696A>T (p.Asn1899Ile) c.5600A>T (p.Asn1867Ile) c.5570A>T (p.Asn1857Ile) c.5495A>T (p.Asn1832Ile) c.5393A>T (p.Asn1798Ile) c.5024A>T (p.Asn1675Ile) | dbSNP |
| 5 | g.112841468T>A | CA16034184 | APC | c.5928T>A (p.Asn1976Lys) c.*5880T>A (n.*5880T>A) c.5820T>A (p.Asn1940Lys) c.5874T>A (p.Asn1958Lys) c.*5196T>A (n.*5196T>A) c.230+12496T>A c.5904T>A (p.Asn1968Lys) c.5799T>A (p.Asn1933Lys) c.5790T>A (p.Asn1930Lys) c.5751T>A (p.Asn1917Lys) c.5697T>A (p.Asn1899Lys) c.5601T>A (p.Asn1867Lys) c.5571T>A (p.Asn1857Lys) c.5496T>A (p.Asn1832Lys) c.5394T>A (p.Asn1798Lys) c.5025T>A (p.Asn1675Lys) | dbSNP |
| 5 | g.112841468T>C | CA446209893 | APC | c.5928T>C (p.Asn1976=) c.*5880T>C (n.*5880T>C) c.5820T>C (p.Asn1940=) c.5874T>C (p.Asn1958=) c.*5196T>C (n.*5196T>C) c.230+12496T>C c.5904T>C (p.Asn1968=) c.5799T>C (p.Asn1933=) c.5790T>C (p.Asn1930=) c.5751T>C (p.Asn1917=) c.5697T>C (p.Asn1899=) c.5601T>C (p.Asn1867=) c.5571T>C (p.Asn1857=) c.5496T>C (p.Asn1832=) c.5394T>C (p.Asn1798=) c.5025T>C (p.Asn1675=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112841468T>G | CA16034185 | APC | c.5928T>G (p.Asn1976Lys) c.*5880T>G (n.*5880T>G) c.5820T>G (p.Asn1940Lys) c.5874T>G (p.Asn1958Lys) c.*5196T>G (n.*5196T>G) c.230+12496T>G c.5904T>G (p.Asn1968Lys) c.5799T>G (p.Asn1933Lys) c.5790T>G (p.Asn1930Lys) c.5751T>G (p.Asn1917Lys) c.5697T>G (p.Asn1899Lys) c.5601T>G (p.Asn1867Lys) c.5571T>G (p.Asn1857Lys) c.5496T>G (p.Asn1832Lys) c.5394T>G (p.Asn1798Lys) c.5025T>G (p.Asn1675Lys) | |
| 5 | g.112841469A= | CA1573479177 | APC | c.5929A= (p.Thr1977=) c.*5881A= (n.*5881A=) c.5821A= (p.Thr1941=) c.5875A= (p.Thr1959=) c.*5197A= (n.*5197A=) c.230+12497A= c.5905A= (p.Thr1969=) c.5800A= (p.Thr1934=) c.5791A= (p.Thr1931=) c.5752A= (p.Thr1918=) c.5698A= (p.Thr1900=) c.5602A= (p.Thr1868=) c.5572A= (p.Thr1858=) c.5497A= (p.Thr1833=) c.5395A= (p.Thr1799=) c.5026A= (p.Thr1676=) | |
| 5 | g.112841469A>C | CA16034186 | APC | c.5929A>C (p.Thr1977Pro) c.*5881A>C (n.*5881A>C) c.5821A>C (p.Thr1941Pro) c.5875A>C (p.Thr1959Pro) c.*5197A>C (n.*5197A>C) c.230+12497A>C c.5905A>C (p.Thr1969Pro) c.5800A>C (p.Thr1934Pro) c.5791A>C (p.Thr1931Pro) c.5752A>C (p.Thr1918Pro) c.5698A>C (p.Thr1900Pro) c.5602A>C (p.Thr1868Pro) c.5572A>C (p.Thr1858Pro) c.5497A>C (p.Thr1833Pro) c.5395A>C (p.Thr1799Pro) c.5026A>C (p.Thr1676Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841469A>G | CA16034187 | APC | c.5929A>G (p.Thr1977Ala) c.*5881A>G (n.*5881A>G) c.5821A>G (p.Thr1941Ala) c.5875A>G (p.Thr1959Ala) c.*5197A>G (n.*5197A>G) c.230+12497A>G c.5905A>G (p.Thr1969Ala) c.5800A>G (p.Thr1934Ala) c.5791A>G (p.Thr1931Ala) c.5752A>G (p.Thr1918Ala) c.5698A>G (p.Thr1900Ala) c.5602A>G (p.Thr1868Ala) c.5572A>G (p.Thr1858Ala) c.5497A>G (p.Thr1833Ala) c.5395A>G (p.Thr1799Ala) c.5026A>G (p.Thr1676Ala) | dbSNP |
| 5 | g.112841469A>T | CA16034188 | APC | c.5929A>T (p.Thr1977Ser) c.*5881A>T (n.*5881A>T) c.5821A>T (p.Thr1941Ser) c.5875A>T (p.Thr1959Ser) c.*5197A>T (n.*5197A>T) c.230+12497A>T c.5905A>T (p.Thr1969Ser) c.5800A>T (p.Thr1934Ser) c.5791A>T (p.Thr1931Ser) c.5752A>T (p.Thr1918Ser) c.5698A>T (p.Thr1900Ser) c.5602A>T (p.Thr1868Ser) c.5572A>T (p.Thr1858Ser) c.5497A>T (p.Thr1833Ser) c.5395A>T (p.Thr1799Ser) c.5026A>T (p.Thr1676Ser) | dbSNP |
| 5 | g.112841470C>A | CA16034189 | APC | c.5930C>A (p.Thr1977Asn) c.*5882C>A (n.*5882C>A) c.5822C>A (p.Thr1941Asn) c.5876C>A (p.Thr1959Asn) c.*5198C>A (n.*5198C>A) c.230+12498C>A c.5906C>A (p.Thr1969Asn) c.5801C>A (p.Thr1934Asn) c.5792C>A (p.Thr1931Asn) c.5753C>A (p.Thr1918Asn) c.5699C>A (p.Thr1900Asn) c.5603C>A (p.Thr1868Asn) c.5573C>A (p.Thr1858Asn) c.5498C>A (p.Thr1833Asn) c.5396C>A (p.Thr1799Asn) c.5027C>A (p.Thr1676Asn) | dbSNP |
| 5 | g.112841470C= | CA1573479186 | APC | c.5930C= (p.Thr1977=) c.*5882C= (n.*5882C=) c.5822C= (p.Thr1941=) c.5876C= (p.Thr1959=) c.*5198C= (n.*5198C=) c.230+12498C= c.5906C= (p.Thr1969=) c.5801C= (p.Thr1934=) c.5792C= (p.Thr1931=) c.5753C= (p.Thr1918=) c.5699C= (p.Thr1900=) c.5603C= (p.Thr1868=) c.5573C= (p.Thr1858=) c.5498C= (p.Thr1833=) c.5396C= (p.Thr1799=) c.5027C= (p.Thr1676=) | |
| 5 | g.112841470C>G | CA16034190 | APC | c.5930C>G (p.Thr1977Ser) c.*5882C>G (n.*5882C>G) c.5822C>G (p.Thr1941Ser) c.5876C>G (p.Thr1959Ser) c.*5198C>G (n.*5198C>G) c.230+12498C>G c.5906C>G (p.Thr1969Ser) c.5801C>G (p.Thr1934Ser) c.5792C>G (p.Thr1931Ser) c.5753C>G (p.Thr1918Ser) c.5699C>G (p.Thr1900Ser) c.5603C>G (p.Thr1868Ser) c.5573C>G (p.Thr1858Ser) c.5498C>G (p.Thr1833Ser) c.5396C>G (p.Thr1799Ser) c.5027C>G (p.Thr1676Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841470C>T | CA16034191 | APC | c.5930C>T (p.Thr1977Ile) c.*5882C>T (n.*5882C>T) c.5822C>T (p.Thr1941Ile) c.5876C>T (p.Thr1959Ile) c.*5198C>T (n.*5198C>T) c.230+12498C>T c.5906C>T (p.Thr1969Ile) c.5801C>T (p.Thr1934Ile) c.5792C>T (p.Thr1931Ile) c.5753C>T (p.Thr1918Ile) c.5699C>T (p.Thr1900Ile) c.5603C>T (p.Thr1868Ile) c.5573C>T (p.Thr1858Ile) c.5498C>T (p.Thr1833Ile) c.5396C>T (p.Thr1799Ile) c.5027C>T (p.Thr1676Ile) | dbSNP |
| 5 | g.112841471T>A | CA16611708 | APC | c.5931T>A (p.Thr1977=) c.*5883T>A (n.*5883T>A) c.5823T>A (p.Thr1941=) c.5877T>A (p.Thr1959=) c.*5199T>A (n.*5199T>A) c.230+12499T>A c.5907T>A (p.Thr1969=) c.5802T>A (p.Thr1934=) c.5793T>A (p.Thr1931=) c.5754T>A (p.Thr1918=) c.5700T>A (p.Thr1900=) c.5604T>A (p.Thr1868=) c.5574T>A (p.Thr1858=) c.5499T>A (p.Thr1833=) c.5397T>A (p.Thr1799=) c.5028T>A (p.Thr1676=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841471T>C | CA446209894 | APC | c.5931T>C (p.Thr1977=) c.*5883T>C (n.*5883T>C) c.5823T>C (p.Thr1941=) c.5877T>C (p.Thr1959=) c.*5199T>C (n.*5199T>C) c.230+12499T>C c.5907T>C (p.Thr1969=) c.5802T>C (p.Thr1934=) c.5793T>C (p.Thr1931=) c.5754T>C (p.Thr1918=) c.5700T>C (p.Thr1900=) c.5604T>C (p.Thr1868=) c.5574T>C (p.Thr1858=) c.5499T>C (p.Thr1833=) c.5397T>C (p.Thr1799=) c.5028T>C (p.Thr1676=) | |
| 5 | g.112841471T>G | CA043266 | APC | c.5931T>G (p.Thr1977=) c.*5883T>G (n.*5883T>G) c.5823T>G (p.Thr1941=) c.5877T>G (p.Thr1959=) c.*5199T>G (n.*5199T>G) c.230+12499T>G c.5907T>G (p.Thr1969=) c.5802T>G (p.Thr1934=) c.5793T>G (p.Thr1931=) c.5754T>G (p.Thr1918=) c.5700T>G (p.Thr1900=) c.5604T>G (p.Thr1868=) c.5574T>G (p.Thr1858=) c.5499T>G (p.Thr1833=) c.5397T>G (p.Thr1799=) c.5028T>G (p.Thr1676=) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.112841471T= | CA1573479198 | APC | c.5931T= (p.Thr1977=) c.*5883T= (n.*5883T=) c.5823T= (p.Thr1941=) c.5877T= (p.Thr1959=) c.*5199T= (n.*5199T=) c.230+12499T= c.5907T= (p.Thr1969=) c.5802T= (p.Thr1934=) c.5793T= (p.Thr1931=) c.5754T= (p.Thr1918=) c.5700T= (p.Thr1900=) c.5604T= (p.Thr1868=) c.5574T= (p.Thr1858=) c.5499T= (p.Thr1833=) c.5397T= (p.Thr1799=) c.5028T= (p.Thr1676=) | |
| 5 | g.112841472C>A | CA16034192 | APC | c.5932C>A (p.Pro1978Thr) c.*5884C>A (n.*5884C>A) c.5824C>A (p.Pro1942Thr) c.5878C>A (p.Pro1960Thr) c.*5200C>A (n.*5200C>A) c.230+12500C>A c.5908C>A (p.Pro1970Thr) c.5803C>A (p.Pro1935Thr) c.5794C>A (p.Pro1932Thr) c.5755C>A (p.Pro1919Thr) c.5701C>A (p.Pro1901Thr) c.5605C>A (p.Pro1869Thr) c.5575C>A (p.Pro1859Thr) c.5500C>A (p.Pro1834Thr) c.5398C>A (p.Pro1800Thr) c.5029C>A (p.Pro1677Thr) | ClinVar dbSNP |
| 5 | g.112841472C= | CA1573479208 | APC | c.5932C= (p.Pro1978=) c.*5884C= (n.*5884C=) c.5824C= (p.Pro1942=) c.5878C= (p.Pro1960=) c.*5200C= (n.*5200C=) c.230+12500C= c.5908C= (p.Pro1970=) c.5803C= (p.Pro1935=) c.5794C= (p.Pro1932=) c.5755C= (p.Pro1919=) c.5701C= (p.Pro1901=) c.5605C= (p.Pro1869=) c.5575C= (p.Pro1859=) c.5500C= (p.Pro1834=) c.5398C= (p.Pro1800=) c.5029C= (p.Pro1677=) | |
| 5 | g.112841472C>G | CA16034193 | APC | c.5932C>G (p.Pro1978Ala) c.*5884C>G (n.*5884C>G) c.5824C>G (p.Pro1942Ala) c.5878C>G (p.Pro1960Ala) c.*5200C>G (n.*5200C>G) c.230+12500C>G c.5908C>G (p.Pro1970Ala) c.5803C>G (p.Pro1935Ala) c.5794C>G (p.Pro1932Ala) c.5755C>G (p.Pro1919Ala) c.5701C>G (p.Pro1901Ala) c.5605C>G (p.Pro1869Ala) c.5575C>G (p.Pro1859Ala) c.5500C>G (p.Pro1834Ala) c.5398C>G (p.Pro1800Ala) c.5029C>G (p.Pro1677Ala) | ClinVar dbSNP |
| 5 | g.112841472C>T | CA16034194 | APC | c.5932C>T (p.Pro1978Ser) c.*5884C>T (n.*5884C>T) c.5824C>T (p.Pro1942Ser) c.5878C>T (p.Pro1960Ser) c.*5200C>T (n.*5200C>T) c.230+12500C>T c.5908C>T (p.Pro1970Ser) c.5803C>T (p.Pro1935Ser) c.5794C>T (p.Pro1932Ser) c.5755C>T (p.Pro1919Ser) c.5701C>T (p.Pro1901Ser) c.5605C>T (p.Pro1869Ser) c.5575C>T (p.Pro1859Ser) c.5500C>T (p.Pro1834Ser) c.5398C>T (p.Pro1800Ser) c.5029C>T (p.Pro1677Ser) | ClinVar dbSNP COSMIC |
| 5 | g.112841472_112841474delinsACA | CA2580072774 | APC | c.5932_5934delinsACA (p.Pro1978Thr) c.*5884_*5886delinsACA (n.*5884_*5886delinsACA) c.5824_5826delinsACA (p.Pro1942Thr) c.5878_5880delinsACA (p.Pro1960Thr) c.*5200_*5202delinsACA (n.*5200_*5202delinsACA) c.230+12500_230+12502delinsACA c.5908_5910delinsACA (p.Pro1970Thr) c.5803_5805delinsACA (p.Pro1935Thr) c.5794_5796delinsACA (p.Pro1932Thr) c.5755_5757delinsACA (p.Pro1919Thr) c.5701_5703delinsACA (p.Pro1901Thr) c.5605_5607delinsACA (p.Pro1869Thr) c.5575_5577delinsACA (p.Pro1859Thr) c.5500_5502delinsACA (p.Pro1834Thr) c.5398_5400delinsACA (p.Pro1800Thr) c.5029_5031delinsACA (p.Pro1677Thr) | ClinVar |
| 5 | g.112841473C>A | CA16034195 | APC | c.5933C>A (p.Pro1978Gln) c.*5885C>A (n.*5885C>A) c.5825C>A (p.Pro1942Gln) c.5879C>A (p.Pro1960Gln) c.*5201C>A (n.*5201C>A) c.230+12501C>A c.5909C>A (p.Pro1970Gln) c.5804C>A (p.Pro1935Gln) c.5795C>A (p.Pro1932Gln) c.5756C>A (p.Pro1919Gln) c.5702C>A (p.Pro1901Gln) c.5606C>A (p.Pro1869Gln) c.5576C>A (p.Pro1859Gln) c.5501C>A (p.Pro1834Gln) c.5399C>A (p.Pro1800Gln) c.5030C>A (p.Pro1677Gln) | |
| 5 | g.112841473C= | CA1573479220 | APC | c.5933C= (p.Pro1978=) c.*5885C= (n.*5885C=) c.5825C= (p.Pro1942=) c.5879C= (p.Pro1960=) c.*5201C= (n.*5201C=) c.230+12501C= c.5909C= (p.Pro1970=) c.5804C= (p.Pro1935=) c.5795C= (p.Pro1932=) c.5756C= (p.Pro1919=) c.5702C= (p.Pro1901=) c.5606C= (p.Pro1869=) c.5576C= (p.Pro1859=) c.5501C= (p.Pro1834=) c.5399C= (p.Pro1800=) c.5030C= (p.Pro1677=) | |
| 5 | g.112841473C>G | CA16034196 | APC | c.5933C>G (p.Pro1978Arg) c.*5885C>G (n.*5885C>G) c.5825C>G (p.Pro1942Arg) c.5879C>G (p.Pro1960Arg) c.*5201C>G (n.*5201C>G) c.230+12501C>G c.5909C>G (p.Pro1970Arg) c.5804C>G (p.Pro1935Arg) c.5795C>G (p.Pro1932Arg) c.5756C>G (p.Pro1919Arg) c.5702C>G (p.Pro1901Arg) c.5606C>G (p.Pro1869Arg) c.5576C>G (p.Pro1859Arg) c.5501C>G (p.Pro1834Arg) c.5399C>G (p.Pro1800Arg) c.5030C>G (p.Pro1677Arg) | dbSNP gnomAD v2 |
| 5 | g.112841473C>T | CA010760 | APC | c.5933C>T (p.Pro1978Leu) c.*5885C>T (n.*5885C>T) c.5825C>T (p.Pro1942Leu) c.5879C>T (p.Pro1960Leu) c.*5201C>T (n.*5201C>T) c.230+12501C>T c.5909C>T (p.Pro1970Leu) c.5804C>T (p.Pro1935Leu) c.5795C>T (p.Pro1932Leu) c.5756C>T (p.Pro1919Leu) c.5702C>T (p.Pro1901Leu) c.5606C>T (p.Pro1869Leu) c.5576C>T (p.Pro1859Leu) c.5501C>T (p.Pro1834Leu) c.5399C>T (p.Pro1800Leu) c.5030C>T (p.Pro1677Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841473_112841474del | CA2578379920 | APC | c.5933_5934del (p.Pro1978ArgfsTer6) c.*5885_*5886del (n.*5885_*5886del) c.5825_5826del (p.Pro1942ArgfsTer6) c.5879_5880del (p.Pro1960ArgfsTer6) c.*5201_*5202del (n.*5201_*5202del) c.230+12501_230+12502del c.5909_5910del (p.Pro1970ArgfsTer6) c.5804_5805del (p.Pro1935ArgfsTer6) c.5795_5796del (p.Pro1932ArgfsTer6) c.5756_5757del (p.Pro1919ArgfsTer6) c.5702_5703del (p.Pro1901ArgfsTer6) c.5606_5607del (p.Pro1869ArgfsTer6) c.5576_5577del (p.Pro1859ArgfsTer6) c.5501_5502del (p.Pro1834ArgfsTer6) c.5399_5400del (p.Pro1800ArgfsTer6) c.5030_5031del (p.Pro1677ArgfsTer6) | |
| 5 | g.112841473_112841474delinsCG | CA1573479216 | APC | c.5933_5934delinsCG (p.Pro1978=) c.*5885_*5886delinsCG (n.*5885_*5886delinsCG) c.5825_5826delinsCG (p.Pro1942=) c.5879_5880delinsCG (p.Pro1960=) c.*5201_*5202delinsCG (n.*5201_*5202delinsCG) c.230+12501_230+12502delinsCG c.5909_5910delinsCG (p.Pro1970=) c.5804_5805delinsCG (p.Pro1935=) c.5795_5796delinsCG (p.Pro1932=) c.5756_5757delinsCG (p.Pro1919=) c.5702_5703delinsCG (p.Pro1901=) c.5606_5607delinsCG (p.Pro1869=) c.5576_5577delinsCG (p.Pro1859=) c.5501_5502delinsCG (p.Pro1834=) c.5399_5400delinsCG (p.Pro1800=) c.5030_5031delinsCG (p.Pro1677=) | |
| 5 | g.112841473_112841474delinsTA | CA010751 | APC | c.5933_5934delinsTA (p.Pro1978Leu) c.*5885_*5886delinsTA (n.*5885_*5886delinsTA) c.5825_5826delinsTA (p.Pro1942Leu) c.5879_5880delinsTA (p.Pro1960Leu) c.*5201_*5202delinsTA (n.*5201_*5202delinsTA) c.230+12501_230+12502delinsTA c.5909_5910delinsTA (p.Pro1970Leu) c.5804_5805delinsTA (p.Pro1935Leu) c.5795_5796delinsTA (p.Pro1932Leu) c.5756_5757delinsTA (p.Pro1919Leu) c.5702_5703delinsTA (p.Pro1901Leu) c.5606_5607delinsTA (p.Pro1869Leu) c.5576_5577delinsTA (p.Pro1859Leu) c.5501_5502delinsTA (p.Pro1834Leu) c.5399_5400delinsTA (p.Pro1800Leu) c.5030_5031delinsTA (p.Pro1677Leu) | ClinVar dbSNP |
| 5 | g.112841474G>A | CA010770 | APC | c.5934G>A (p.Pro1978=) c.*5886G>A (n.*5886G>A) c.5826G>A (p.Pro1942=) c.5880G>A (p.Pro1960=) c.*5202G>A (n.*5202G>A) c.230+12502G>A c.5910G>A (p.Pro1970=) c.5805G>A (p.Pro1935=) c.5796G>A (p.Pro1932=) c.5757G>A (p.Pro1919=) c.5703G>A (p.Pro1901=) c.5607G>A (p.Pro1869=) c.5577G>A (p.Pro1859=) c.5502G>A (p.Pro1834=) c.5400G>A (p.Pro1800=) c.5031G>A (p.Pro1677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841474G>C | CA446209901 | APC | c.5934G>C (p.Pro1978=) c.*5886G>C (n.*5886G>C) c.5826G>C (p.Pro1942=) c.5880G>C (p.Pro1960=) c.*5202G>C (n.*5202G>C) c.230+12502G>C c.5910G>C (p.Pro1970=) c.5805G>C (p.Pro1935=) c.5796G>C (p.Pro1932=) c.5757G>C (p.Pro1919=) c.5703G>C (p.Pro1901=) c.5607G>C (p.Pro1869=) c.5577G>C (p.Pro1859=) c.5502G>C (p.Pro1834=) c.5400G>C (p.Pro1800=) c.5031G>C (p.Pro1677=) | dbSNP |
| 5 | g.112841474G= | CA1573479236 | APC | c.5934G= (p.Pro1978=) c.*5886G= (n.*5886G=) c.5826G= (p.Pro1942=) c.5880G= (p.Pro1960=) c.*5202G= (n.*5202G=) c.230+12502G= c.5910G= (p.Pro1970=) c.5805G= (p.Pro1935=) c.5796G= (p.Pro1932=) c.5757G= (p.Pro1919=) c.5703G= (p.Pro1901=) c.5607G= (p.Pro1869=) c.5577G= (p.Pro1859=) c.5502G= (p.Pro1834=) c.5400G= (p.Pro1800=) c.5031G= (p.Pro1677=) | |
| 5 | g.112841474G>T | CA446209900 | APC | c.5934G>T (p.Pro1978=) c.*5886G>T (n.*5886G>T) c.5826G>T (p.Pro1942=) c.5880G>T (p.Pro1960=) c.*5202G>T (n.*5202G>T) c.230+12502G>T c.5910G>T (p.Pro1970=) c.5805G>T (p.Pro1935=) c.5796G>T (p.Pro1932=) c.5757G>T (p.Pro1919=) c.5703G>T (p.Pro1901=) c.5607G>T (p.Pro1869=) c.5577G>T (p.Pro1859=) c.5502G>T (p.Pro1834=) c.5400G>T (p.Pro1800=) c.5031G>T (p.Pro1677=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112841474_112841475delinsAC | CA10584258 | APC | c.5934_5935delinsAC (p.Val1979Leu) c.*5886_*5887delinsAC (n.*5886_*5887delinsAC) c.5826_5827delinsAC (p.Val1943Leu) c.5880_5881delinsAC (p.Val1961Leu) c.*5202_*5203delinsAC (n.*5202_*5203delinsAC) c.230+12502_230+12503delinsAC c.5910_5911delinsAC (p.Val1971Leu) c.5805_5806delinsAC (p.Val1936Leu) c.5796_5797delinsAC (p.Val1933Leu) c.5757_5758delinsAC (p.Val1920Leu) c.5703_5704delinsAC (p.Val1902Leu) c.5607_5608delinsAC (p.Val1870Leu) c.5577_5578delinsAC (p.Val1860Leu) c.5502_5503delinsAC (p.Val1835Leu) c.5400_5401delinsAC (p.Val1801Leu) c.5031_5032delinsAC (p.Val1678Leu) | ClinVar dbSNP |
| 5 | g.112841474_112841475delinsGG | CA1573479238 | APC | c.5934_5935delinsGG (p.Pro1978=) c.*5886_*5887delinsGG (n.*5886_*5887delinsGG) c.5826_5827delinsGG (p.Pro1942=) c.5880_5881delinsGG (p.Pro1960=) c.*5202_*5203delinsGG (n.*5202_*5203delinsGG) c.230+12502_230+12503delinsGG c.5910_5911delinsGG (p.Pro1970=) c.5805_5806delinsGG (p.Pro1935=) c.5796_5797delinsGG (p.Pro1932=) c.5757_5758delinsGG (p.Pro1919=) c.5703_5704delinsGG (p.Pro1901=) c.5607_5608delinsGG (p.Pro1869=) c.5577_5578delinsGG (p.Pro1859=) c.5502_5503delinsGG (p.Pro1834=) c.5400_5401delinsGG (p.Pro1800=) c.5031_5032delinsGG (p.Pro1677=) | |
| 5 | g.112841475G>A | CA16034197 | APC | c.5935G>A (p.Val1979Ile) c.*5887G>A (n.*5887G>A) c.5827G>A (p.Val1943Ile) c.5881G>A (p.Val1961Ile) c.*5203G>A (n.*5203G>A) c.230+12503G>A c.5911G>A (p.Val1971Ile) c.5806G>A (p.Val1936Ile) c.5797G>A (p.Val1933Ile) c.5758G>A (p.Val1920Ile) c.5704G>A (p.Val1902Ile) c.5608G>A (p.Val1870Ile) c.5578G>A (p.Val1860Ile) c.5503G>A (p.Val1835Ile) c.5401G>A (p.Val1801Ile) c.5032G>A (p.Val1678Ile) | dbSNP |
| 5 | g.112841475G>C | CA16034198 | APC | c.5935G>C (p.Val1979Leu) c.*5887G>C (n.*5887G>C) c.5827G>C (p.Val1943Leu) c.5881G>C (p.Val1961Leu) c.*5203G>C (n.*5203G>C) c.230+12503G>C c.5911G>C (p.Val1971Leu) c.5806G>C (p.Val1936Leu) c.5797G>C (p.Val1933Leu) c.5758G>C (p.Val1920Leu) c.5704G>C (p.Val1902Leu) c.5608G>C (p.Val1870Leu) c.5578G>C (p.Val1860Leu) c.5503G>C (p.Val1835Leu) c.5401G>C (p.Val1801Leu) c.5032G>C (p.Val1678Leu) | ClinVar dbSNP |
| 5 | g.112841475G= | CA1573479264 | APC | c.5935G= (p.Val1979=) c.*5887G= (n.*5887G=) c.5827G= (p.Val1943=) c.5881G= (p.Val1961=) c.*5203G= (n.*5203G=) c.230+12503G= c.5911G= (p.Val1971=) c.5806G= (p.Val1936=) c.5797G= (p.Val1933=) c.5758G= (p.Val1920=) c.5704G= (p.Val1902=) c.5608G= (p.Val1870=) c.5578G= (p.Val1860=) c.5503G= (p.Val1835=) c.5401G= (p.Val1801=) c.5032G= (p.Val1678=) | |
| 5 | g.112841475G>T | CA16034199 | APC | c.5935G>T (p.Val1979Phe) c.*5887G>T (n.*5887G>T) c.5827G>T (p.Val1943Phe) c.5881G>T (p.Val1961Phe) c.*5203G>T (n.*5203G>T) c.230+12503G>T c.5911G>T (p.Val1971Phe) c.5806G>T (p.Val1936Phe) c.5797G>T (p.Val1933Phe) c.5758G>T (p.Val1920Phe) c.5704G>T (p.Val1902Phe) c.5608G>T (p.Val1870Phe) c.5578G>T (p.Val1860Phe) c.5503G>T (p.Val1835Phe) c.5401G>T (p.Val1801Phe) c.5032G>T (p.Val1678Phe) | dbSNP |
| 5 | g.112841476T>A | CA16034200 | APC | c.5936T>A (p.Val1979Asp) c.*5888T>A (n.*5888T>A) c.5828T>A (p.Val1943Asp) c.5882T>A (p.Val1961Asp) c.*5204T>A (n.*5204T>A) c.230+12504T>A c.5912T>A (p.Val1971Asp) c.5807T>A (p.Val1936Asp) c.5798T>A (p.Val1933Asp) c.5759T>A (p.Val1920Asp) c.5705T>A (p.Val1902Asp) c.5609T>A (p.Val1870Asp) c.5579T>A (p.Val1860Asp) c.5504T>A (p.Val1835Asp) c.5402T>A (p.Val1801Asp) c.5033T>A (p.Val1678Asp) | dbSNP |
| 5 | g.112841476T>C | CA16034201 | APC | c.5936T>C (p.Val1979Ala) c.*5888T>C (n.*5888T>C) c.5828T>C (p.Val1943Ala) c.5882T>C (p.Val1961Ala) c.*5204T>C (n.*5204T>C) c.230+12504T>C c.5912T>C (p.Val1971Ala) c.5807T>C (p.Val1936Ala) c.5798T>C (p.Val1933Ala) c.5759T>C (p.Val1920Ala) c.5705T>C (p.Val1902Ala) c.5609T>C (p.Val1870Ala) c.5579T>C (p.Val1860Ala) c.5504T>C (p.Val1835Ala) c.5402T>C (p.Val1801Ala) c.5033T>C (p.Val1678Ala) | dbSNP |
| 5 | g.112841476T>G | CA16034202 | APC | c.5936T>G (p.Val1979Gly) c.*5888T>G (n.*5888T>G) c.5828T>G (p.Val1943Gly) c.5882T>G (p.Val1961Gly) c.*5204T>G (n.*5204T>G) c.230+12504T>G c.5912T>G (p.Val1971Gly) c.5807T>G (p.Val1936Gly) c.5798T>G (p.Val1933Gly) c.5759T>G (p.Val1920Gly) c.5705T>G (p.Val1902Gly) c.5609T>G (p.Val1870Gly) c.5579T>G (p.Val1860Gly) c.5504T>G (p.Val1835Gly) c.5402T>G (p.Val1801Gly) c.5033T>G (p.Val1678Gly) | ClinVar |
| 5 | g.112841477T>A | CA446209904 | APC | c.5937T>A (p.Val1979=) c.*5889T>A (n.*5889T>A) c.5829T>A (p.Val1943=) c.5883T>A (p.Val1961=) c.*5205T>A (n.*5205T>A) c.230+12505T>A c.5913T>A (p.Val1971=) c.5808T>A (p.Val1936=) c.5799T>A (p.Val1933=) c.5760T>A (p.Val1920=) c.5706T>A (p.Val1902=) c.5610T>A (p.Val1870=) c.5580T>A (p.Val1860=) c.5505T>A (p.Val1835=) c.5403T>A (p.Val1801=) c.5034T>A (p.Val1678=) | dbSNP |
| 5 | g.112841477T>C | CA446209905 | APC | c.5937T>C (p.Val1979=) c.*5889T>C (n.*5889T>C) c.5829T>C (p.Val1943=) c.5883T>C (p.Val1961=) c.*5205T>C (n.*5205T>C) c.230+12505T>C c.5913T>C (p.Val1971=) c.5808T>C (p.Val1936=) c.5799T>C (p.Val1933=) c.5760T>C (p.Val1920=) c.5706T>C (p.Val1902=) c.5610T>C (p.Val1870=) c.5580T>C (p.Val1860=) c.5505T>C (p.Val1835=) c.5403T>C (p.Val1801=) c.5034T>C (p.Val1678=) | dbSNP |
| 5 | g.112841477T>G | CA446209906 | APC | c.5937T>G (p.Val1979=) c.*5889T>G (n.*5889T>G) c.5829T>G (p.Val1943=) c.5883T>G (p.Val1961=) c.*5205T>G (n.*5205T>G) c.230+12505T>G c.5913T>G (p.Val1971=) c.5808T>G (p.Val1936=) c.5799T>G (p.Val1933=) c.5760T>G (p.Val1920=) c.5706T>G (p.Val1902=) c.5610T>G (p.Val1870=) c.5580T>G (p.Val1860=) c.5505T>G (p.Val1835=) c.5403T>G (p.Val1801=) c.5034T>G (p.Val1678=) | |
| 5 | g.112841478T>A | CA16034203 | APC | c.5938T>A (p.Cys1980Ser) c.*5890T>A (n.*5890T>A) c.5830T>A (p.Cys1944Ser) c.5884T>A (p.Cys1962Ser) c.*5206T>A (n.*5206T>A) c.230+12506T>A c.5914T>A (p.Cys1972Ser) c.5809T>A (p.Cys1937Ser) c.5800T>A (p.Cys1934Ser) c.5761T>A (p.Cys1921Ser) c.5707T>A (p.Cys1903Ser) c.5611T>A (p.Cys1871Ser) c.5581T>A (p.Cys1861Ser) c.5506T>A (p.Cys1836Ser) c.5404T>A (p.Cys1802Ser) c.5035T>A (p.Cys1679Ser) | dbSNP |