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.112841530del | CA279794 | APC | c.5990del (p.Asn1997ThrfsTer?) c.*5942del (n.*5942del) c.5882del (p.Asn1961ThrfsTer?) c.5936del (p.Asn1979ThrfsTer?) c.*5258del (n.*5258del) c.230+12558del c.5966del (p.Asn1989ThrfsTer?) c.5861del (p.Asn1954ThrfsTer?) c.5852del (p.Asn1951ThrfsTer?) c.5813del (p.Asn1938ThrfsTer?) c.5759del (p.Asn1920ThrfsTer?) c.5663del (p.Asn1888ThrfsTer?) c.5633del (p.Asn1878ThrfsTer?) c.5558del (p.Asn1853ThrfsTer?) c.5456del (p.Asn1819ThrfsTer?) c.5087del (p.Asn1696ThrfsTer?) | ClinVar dbSNP COSMIC |
| 5 | g.112841527_112841531delinsAAAAC | CA1573479620 | APC | c.5987_5991delinsAAAAC (p.Glu1996=) c.*5939_*5943delinsAAAAC (n.*5939_*5943delinsAAAAC) c.5879_5883delinsAAAAC (p.Glu1960=) c.5933_5937delinsAAAAC (p.Glu1978=) c.*5255_*5259delinsAAAAC (n.*5255_*5259delinsAAAAC) c.230+12555_230+12559delinsAAAAC c.5963_5967delinsAAAAC (p.Glu1988=) c.5858_5862delinsAAAAC (p.Glu1953=) c.5849_5853delinsAAAAC (p.Glu1950=) c.5810_5814delinsAAAAC (p.Glu1937=) c.5756_5760delinsAAAAC (p.Glu1919=) c.5660_5664delinsAAAAC (p.Glu1887=) c.5630_5634delinsAAAAC (p.Glu1877=) c.5555_5559delinsAAAAC (p.Glu1852=) c.5453_5457delinsAAAAC (p.Glu1818=) c.5084_5088delinsAAAAC (p.Glu1695=) | |
| 5 | g.112841528_112841531delinsAAAC | CA1573479640 | APC | c.5988_5991delinsAAAC (p.Glu1996=) c.*5940_*5943delinsAAAC (n.*5940_*5943delinsAAAC) c.5880_5883delinsAAAC (p.Glu1960=) c.5934_5937delinsAAAC (p.Glu1978=) c.*5256_*5259delinsAAAC (n.*5256_*5259delinsAAAC) c.230+12556_230+12559delinsAAAC c.5964_5967delinsAAAC (p.Glu1988=) c.5859_5862delinsAAAC (p.Glu1953=) c.5850_5853delinsAAAC (p.Glu1950=) c.5811_5814delinsAAAC (p.Glu1937=) c.5757_5760delinsAAAC (p.Glu1919=) c.5661_5664delinsAAAC (p.Glu1887=) c.5631_5634delinsAAAC (p.Glu1877=) c.5556_5559delinsAAAC (p.Glu1852=) c.5454_5457delinsAAAC (p.Glu1818=) c.5085_5088delinsAAAC (p.Glu1695=) | |
| 5 | g.112841530_112841533del | CA010795 | APC | c.5990_5993del (p.Asn1997ThrfsTer?) c.*5942_*5945del (n.*5942_*5945del) c.5882_5885del (p.Asn1961ThrfsTer?) c.5936_5939del (p.Asn1979ThrfsTer?) c.*5258_*5261del (n.*5258_*5261del) c.230+12558_230+12561del c.5966_5969del (p.Asn1989ThrfsTer?) c.5861_5864del (p.Asn1954ThrfsTer?) c.5852_5855del (p.Asn1951ThrfsTer?) c.5813_5816del (p.Asn1938ThrfsTer?) c.5759_5762del (p.Asn1920ThrfsTer?) c.5663_5666del (p.Asn1888ThrfsTer?) c.5633_5636del (p.Asn1878ThrfsTer?) c.5558_5561del (p.Asn1853ThrfsTer?) c.5456_5459del (p.Asn1819ThrfsTer?) c.5087_5090del (p.Asn1696ThrfsTer?) | ClinVar dbSNP |
| 5 | g.112841534_112841536del | CA043449 | APC | c.5994_5996del (p.Asn1999del) c.*5946_*5948del (n.*5946_*5948del) c.5886_5888del (p.Asn1963del) c.5940_5942del (p.Asn1981del) c.*5262_*5264del (n.*5262_*5264del) c.230+12562_230+12564del c.5970_5972del (p.Asn1991del) c.5865_5867del (p.Asn1956del) c.5856_5858del (p.Asn1953del) c.5817_5819del (p.Asn1940del) c.5763_5765del (p.Asn1922del) c.5667_5669del (p.Asn1890del) c.5637_5639del (p.Asn1880del) c.5562_5564del (p.Asn1855del) c.5460_5462del (p.Asn1821del) c.5091_5093del (p.Asn1698del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841530A= | CA1573479650 | APC | c.5990A= (p.Asn1997=) c.*5942A= (n.*5942A=) c.5882A= (p.Asn1961=) c.5936A= (p.Asn1979=) c.*5258A= (n.*5258A=) c.230+12558A= c.5966A= (p.Asn1989=) c.5861A= (p.Asn1954=) c.5852A= (p.Asn1951=) c.5813A= (p.Asn1938=) c.5759A= (p.Asn1920=) c.5663A= (p.Asn1888=) c.5633A= (p.Asn1878=) c.5558A= (p.Asn1853=) c.5456A= (p.Asn1819=) c.5087A= (p.Asn1696=) | |
| 5 | g.112841530A>C | CA16034320 | APC | c.5990A>C (p.Asn1997Thr) c.*5942A>C (n.*5942A>C) c.5882A>C (p.Asn1961Thr) c.5936A>C (p.Asn1979Thr) c.*5258A>C (n.*5258A>C) c.230+12558A>C c.5966A>C (p.Asn1989Thr) c.5861A>C (p.Asn1954Thr) c.5852A>C (p.Asn1951Thr) c.5813A>C (p.Asn1938Thr) c.5759A>C (p.Asn1920Thr) c.5663A>C (p.Asn1888Thr) c.5633A>C (p.Asn1878Thr) c.5558A>C (p.Asn1853Thr) c.5456A>C (p.Asn1819Thr) c.5087A>C (p.Asn1696Thr) | dbSNP |
| 5 | g.112841530A>G | CA16034321 | APC | c.5990A>G (p.Asn1997Ser) c.*5942A>G (n.*5942A>G) c.5882A>G (p.Asn1961Ser) c.5936A>G (p.Asn1979Ser) c.*5258A>G (n.*5258A>G) c.230+12558A>G c.5966A>G (p.Asn1989Ser) c.5861A>G (p.Asn1954Ser) c.5852A>G (p.Asn1951Ser) c.5813A>G (p.Asn1938Ser) c.5759A>G (p.Asn1920Ser) c.5663A>G (p.Asn1888Ser) c.5633A>G (p.Asn1878Ser) c.5558A>G (p.Asn1853Ser) c.5456A>G (p.Asn1819Ser) c.5087A>G (p.Asn1696Ser) | ClinVar dbSNP |
| 5 | g.112841530A>T | CA16034322 | APC | c.5990A>T (p.Asn1997Ile) c.*5942A>T (n.*5942A>T) c.5882A>T (p.Asn1961Ile) c.5936A>T (p.Asn1979Ile) c.*5258A>T (n.*5258A>T) c.230+12558A>T c.5966A>T (p.Asn1989Ile) c.5861A>T (p.Asn1954Ile) c.5852A>T (p.Asn1951Ile) c.5813A>T (p.Asn1938Ile) c.5759A>T (p.Asn1920Ile) c.5663A>T (p.Asn1888Ile) c.5633A>T (p.Asn1878Ile) c.5558A>T (p.Asn1853Ile) c.5456A>T (p.Asn1819Ile) c.5087A>T (p.Asn1696Ile) | dbSNP |
| 5 | g.112841531C>A | CA16034323 | APC | c.5991C>A (p.Asn1997Lys) c.*5943C>A (n.*5943C>A) c.5883C>A (p.Asn1961Lys) c.5937C>A (p.Asn1979Lys) c.*5259C>A (n.*5259C>A) c.230+12559C>A c.5967C>A (p.Asn1989Lys) c.5862C>A (p.Asn1954Lys) c.5853C>A (p.Asn1951Lys) c.5814C>A (p.Asn1938Lys) c.5760C>A (p.Asn1920Lys) c.5664C>A (p.Asn1888Lys) c.5634C>A (p.Asn1878Lys) c.5559C>A (p.Asn1853Lys) c.5457C>A (p.Asn1819Lys) c.5088C>A (p.Asn1696Lys) | dbSNP |
| 5 | g.112841531C>G | CA16034324 | APC | c.5991C>G (p.Asn1997Lys) c.*5943C>G (n.*5943C>G) c.5883C>G (p.Asn1961Lys) c.5937C>G (p.Asn1979Lys) c.*5259C>G (n.*5259C>G) c.230+12559C>G c.5967C>G (p.Asn1989Lys) c.5862C>G (p.Asn1954Lys) c.5853C>G (p.Asn1951Lys) c.5814C>G (p.Asn1938Lys) c.5760C>G (p.Asn1920Lys) c.5664C>G (p.Asn1888Lys) c.5634C>G (p.Asn1878Lys) c.5559C>G (p.Asn1853Lys) c.5457C>G (p.Asn1819Lys) c.5088C>G (p.Asn1696Lys) | |
| 5 | g.112841531C>T | CA446210046 | APC | c.5991C>T (p.Asn1997=) c.*5943C>T (n.*5943C>T) c.5883C>T (p.Asn1961=) c.5937C>T (p.Asn1979=) c.*5259C>T (n.*5259C>T) c.230+12559C>T c.5967C>T (p.Asn1989=) c.5862C>T (p.Asn1954=) c.5853C>T (p.Asn1951=) c.5814C>T (p.Asn1938=) c.5760C>T (p.Asn1920=) c.5664C>T (p.Asn1888=) c.5634C>T (p.Asn1878=) c.5559C>T (p.Asn1853=) c.5457C>T (p.Asn1819=) c.5088C>T (p.Asn1696=) | ClinVar dbSNP |
| 5 | g.112841532A>C | CA16034325 | APC | c.5992A>C (p.Asn1998His) c.*5944A>C (n.*5944A>C) c.5884A>C (p.Asn1962His) c.5938A>C (p.Asn1980His) c.*5260A>C (n.*5260A>C) c.230+12560A>C c.5968A>C (p.Asn1990His) c.5863A>C (p.Asn1955His) c.5854A>C (p.Asn1952His) c.5815A>C (p.Asn1939His) c.5761A>C (p.Asn1921His) c.5665A>C (p.Asn1889His) c.5635A>C (p.Asn1879His) c.5560A>C (p.Asn1854His) c.5458A>C (p.Asn1820His) c.5089A>C (p.Asn1697His) | |
| 5 | g.112841532A>G | CA16034326 | APC | c.5992A>G (p.Asn1998Asp) c.*5944A>G (n.*5944A>G) c.5884A>G (p.Asn1962Asp) c.5938A>G (p.Asn1980Asp) c.*5260A>G (n.*5260A>G) c.230+12560A>G c.5968A>G (p.Asn1990Asp) c.5863A>G (p.Asn1955Asp) c.5854A>G (p.Asn1952Asp) c.5815A>G (p.Asn1939Asp) c.5761A>G (p.Asn1921Asp) c.5665A>G (p.Asn1889Asp) c.5635A>G (p.Asn1879Asp) c.5560A>G (p.Asn1854Asp) c.5458A>G (p.Asn1820Asp) c.5089A>G (p.Asn1697Asp) | dbSNP |
| 5 | g.112841532A>T | CA16034327 | APC | c.5992A>T (p.Asn1998Tyr) c.*5944A>T (n.*5944A>T) c.5884A>T (p.Asn1962Tyr) c.5938A>T (p.Asn1980Tyr) c.*5260A>T (n.*5260A>T) c.230+12560A>T c.5968A>T (p.Asn1990Tyr) c.5863A>T (p.Asn1955Tyr) c.5854A>T (p.Asn1952Tyr) c.5815A>T (p.Asn1939Tyr) c.5761A>T (p.Asn1921Tyr) c.5665A>T (p.Asn1889Tyr) c.5635A>T (p.Asn1879Tyr) c.5560A>T (p.Asn1854Tyr) c.5458A>T (p.Asn1820Tyr) c.5089A>T (p.Asn1697Tyr) | dbSNP |
| 5 | g.112841533A= | CA1573479671 | APC | c.5993A= (p.Asn1998=) c.*5945A= (n.*5945A=) c.5885A= (p.Asn1962=) c.5939A= (p.Asn1980=) c.*5261A= (n.*5261A=) c.230+12561A= c.5969A= (p.Asn1990=) c.5864A= (p.Asn1955=) c.5855A= (p.Asn1952=) c.5816A= (p.Asn1939=) c.5762A= (p.Asn1921=) c.5666A= (p.Asn1889=) c.5636A= (p.Asn1879=) c.5561A= (p.Asn1854=) c.5459A= (p.Asn1820=) c.5090A= (p.Asn1697=) | |
| 5 | g.112841533A>C | CA16034328 | APC | c.5993A>C (p.Asn1998Thr) c.*5945A>C (n.*5945A>C) c.5885A>C (p.Asn1962Thr) c.5939A>C (p.Asn1980Thr) c.*5261A>C (n.*5261A>C) c.230+12561A>C c.5969A>C (p.Asn1990Thr) c.5864A>C (p.Asn1955Thr) c.5855A>C (p.Asn1952Thr) c.5816A>C (p.Asn1939Thr) c.5762A>C (p.Asn1921Thr) c.5666A>C (p.Asn1889Thr) c.5636A>C (p.Asn1879Thr) c.5561A>C (p.Asn1854Thr) c.5459A>C (p.Asn1820Thr) c.5090A>C (p.Asn1697Thr) | |
| 5 | g.112841533A>G | CA043463 | APC | c.5993A>G (p.Asn1998Ser) c.*5945A>G (n.*5945A>G) c.5885A>G (p.Asn1962Ser) c.5939A>G (p.Asn1980Ser) c.*5261A>G (n.*5261A>G) c.230+12561A>G c.5969A>G (p.Asn1990Ser) c.5864A>G (p.Asn1955Ser) c.5855A>G (p.Asn1952Ser) c.5816A>G (p.Asn1939Ser) c.5762A>G (p.Asn1921Ser) c.5666A>G (p.Asn1889Ser) c.5636A>G (p.Asn1879Ser) c.5561A>G (p.Asn1854Ser) c.5459A>G (p.Asn1820Ser) c.5090A>G (p.Asn1697Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841533A>T | CA16034329 | APC | c.5993A>T (p.Asn1998Ile) c.*5945A>T (n.*5945A>T) c.5885A>T (p.Asn1962Ile) c.5939A>T (p.Asn1980Ile) c.*5261A>T (n.*5261A>T) c.230+12561A>T c.5969A>T (p.Asn1990Ile) c.5864A>T (p.Asn1955Ile) c.5855A>T (p.Asn1952Ile) c.5816A>T (p.Asn1939Ile) c.5762A>T (p.Asn1921Ile) c.5666A>T (p.Asn1889Ile) c.5636A>T (p.Asn1879Ile) c.5561A>T (p.Asn1854Ile) c.5459A>T (p.Asn1820Ile) c.5090A>T (p.Asn1697Ile) | |
| 5 | g.112841534C>A | CA16034330 | APC | c.5994C>A (p.Asn1998Lys) c.*5946C>A (n.*5946C>A) c.5886C>A (p.Asn1962Lys) c.5940C>A (p.Asn1980Lys) c.*5262C>A (n.*5262C>A) c.230+12562C>A c.5970C>A (p.Asn1990Lys) c.5865C>A (p.Asn1955Lys) c.5856C>A (p.Asn1952Lys) c.5817C>A (p.Asn1939Lys) c.5763C>A (p.Asn1921Lys) c.5667C>A (p.Asn1889Lys) c.5637C>A (p.Asn1879Lys) c.5562C>A (p.Asn1854Lys) c.5460C>A (p.Asn1820Lys) c.5091C>A (p.Asn1697Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841534C= | CA1573479685 | APC | c.5994C= (p.Asn1998=) c.*5946C= (n.*5946C=) c.5886C= (p.Asn1962=) c.5940C= (p.Asn1980=) c.*5262C= (n.*5262C=) c.230+12562C= c.5970C= (p.Asn1990=) c.5865C= (p.Asn1955=) c.5856C= (p.Asn1952=) c.5817C= (p.Asn1939=) c.5763C= (p.Asn1921=) c.5667C= (p.Asn1889=) c.5637C= (p.Asn1879=) c.5562C= (p.Asn1854=) c.5460C= (p.Asn1820=) c.5091C= (p.Asn1697=) | |
| 5 | g.112841534C>G | CA16034331 | APC | c.5994C>G (p.Asn1998Lys) c.*5946C>G (n.*5946C>G) c.5886C>G (p.Asn1962Lys) c.5940C>G (p.Asn1980Lys) c.*5262C>G (n.*5262C>G) c.230+12562C>G c.5970C>G (p.Asn1990Lys) c.5865C>G (p.Asn1955Lys) c.5856C>G (p.Asn1952Lys) c.5817C>G (p.Asn1939Lys) c.5763C>G (p.Asn1921Lys) c.5667C>G (p.Asn1889Lys) c.5637C>G (p.Asn1879Lys) c.5562C>G (p.Asn1854Lys) c.5460C>G (p.Asn1820Lys) c.5091C>G (p.Asn1697Lys) | dbSNP |
| 5 | g.112841534C>T | CA446210051 | APC | c.5994C>T (p.Asn1998=) c.*5946C>T (n.*5946C>T) c.5886C>T (p.Asn1962=) c.5940C>T (p.Asn1980=) c.*5262C>T (n.*5262C>T) c.230+12562C>T c.5970C>T (p.Asn1990=) c.5865C>T (p.Asn1955=) c.5856C>T (p.Asn1952=) c.5817C>T (p.Asn1939=) c.5763C>T (p.Asn1921=) c.5667C>T (p.Asn1889=) c.5637C>T (p.Asn1879=) c.5562C>T (p.Asn1854=) c.5460C>T (p.Asn1820=) c.5091C>T (p.Asn1697=) | ClinVar dbSNP |
| 5 | g.112841534_112841535delinsCA | CA1573479681 | APC | c.5994_5995delinsCA (p.Asn1998=) c.*5946_*5947delinsCA (n.*5946_*5947delinsCA) c.5886_5887delinsCA (p.Asn1962=) c.5940_5941delinsCA (p.Asn1980=) c.*5262_*5263delinsCA (n.*5262_*5263delinsCA) c.230+12562_230+12563delinsCA c.5970_5971delinsCA (p.Asn1990=) c.5865_5866delinsCA (p.Asn1955=) c.5856_5857delinsCA (p.Asn1952=) c.5817_5818delinsCA (p.Asn1939=) c.5763_5764delinsCA (p.Asn1921=) c.5667_5668delinsCA (p.Asn1889=) c.5637_5638delinsCA (p.Asn1879=) c.5562_5563delinsCA (p.Asn1854=) c.5460_5461delinsCA (p.Asn1820=) c.5091_5092delinsCA (p.Asn1697=) | |
| 5 | g.112841535A= | CA1573479687 | APC | c.5995A= (p.Asn1999=) c.*5947A= (n.*5947A=) c.5887A= (p.Asn1963=) c.5941A= (p.Asn1981=) c.*5263A= (n.*5263A=) c.230+12563A= c.5971A= (p.Asn1991=) c.5866A= (p.Asn1956=) c.5857A= (p.Asn1953=) c.5818A= (p.Asn1940=) c.5764A= (p.Asn1922=) c.5668A= (p.Asn1890=) c.5638A= (p.Asn1880=) c.5563A= (p.Asn1855=) c.5461A= (p.Asn1821=) c.5092A= (p.Asn1698=) | |
| 5 | g.112841535A>C | CA16034332 | APC | c.5995A>C (p.Asn1999His) c.*5947A>C (n.*5947A>C) c.5887A>C (p.Asn1963His) c.5941A>C (p.Asn1981His) c.*5263A>C (n.*5263A>C) c.230+12563A>C c.5971A>C (p.Asn1991His) c.5866A>C (p.Asn1956His) c.5857A>C (p.Asn1953His) c.5818A>C (p.Asn1940His) c.5764A>C (p.Asn1922His) c.5668A>C (p.Asn1890His) c.5638A>C (p.Asn1880His) c.5563A>C (p.Asn1855His) c.5461A>C (p.Asn1821His) c.5092A>C (p.Asn1698His) | |
| 5 | g.112841535A>G | CA16034333 | APC | c.5995A>G (p.Asn1999Asp) c.*5947A>G (n.*5947A>G) c.5887A>G (p.Asn1963Asp) c.5941A>G (p.Asn1981Asp) c.*5263A>G (n.*5263A>G) c.230+12563A>G c.5971A>G (p.Asn1991Asp) c.5866A>G (p.Asn1956Asp) c.5857A>G (p.Asn1953Asp) c.5818A>G (p.Asn1940Asp) c.5764A>G (p.Asn1922Asp) c.5668A>G (p.Asn1890Asp) c.5638A>G (p.Asn1880Asp) c.5563A>G (p.Asn1855Asp) c.5461A>G (p.Asn1821Asp) c.5092A>G (p.Asn1698Asp) | ClinVar dbSNP |
| 5 | g.112841535A>T | CA16034334 | APC | c.5995A>T (p.Asn1999Tyr) c.*5947A>T (n.*5947A>T) c.5887A>T (p.Asn1963Tyr) c.5941A>T (p.Asn1981Tyr) c.*5263A>T (n.*5263A>T) c.230+12563A>T c.5971A>T (p.Asn1991Tyr) c.5866A>T (p.Asn1956Tyr) c.5857A>T (p.Asn1953Tyr) c.5818A>T (p.Asn1940Tyr) c.5764A>T (p.Asn1922Tyr) c.5668A>T (p.Asn1890Tyr) c.5638A>T (p.Asn1880Tyr) c.5563A>T (p.Asn1855Tyr) c.5461A>T (p.Asn1821Tyr) c.5092A>T (p.Asn1698Tyr) | dbSNP |
| 5 | g.112841536del | CA010819 | APC | c.5996del (p.Asn1999IlefsTer?) c.*5948del (n.*5948del) c.5888del (p.Asn1963IlefsTer?) c.5942del (p.Asn1981IlefsTer?) c.*5264del (n.*5264del) c.230+12564del c.5972del (p.Asn1991IlefsTer?) c.5867del (p.Asn1956IlefsTer?) c.5858del (p.Asn1953IlefsTer?) c.5819del (p.Asn1940IlefsTer?) c.5765del (p.Asn1922IlefsTer?) c.5669del (p.Asn1890IlefsTer?) c.5639del (p.Asn1880IlefsTer?) c.5564del (p.Asn1855IlefsTer?) c.5462del (p.Asn1821IlefsTer?) c.5093del (p.Asn1698IlefsTer?) | ClinVar dbSNP |
| 5 | g.112841537_112841540del | CA2582341488 | APC | c.5997_6000del (p.Asn1999LysfsTer?) c.*5949_*5952del (n.*5949_*5952del) c.5889_5892del (p.Asn1963LysfsTer?) c.5943_5946del (p.Asn1981LysfsTer?) c.*5265_*5268del (n.*5265_*5268del) c.230+12565_230+12568del c.5973_5976del (p.Asn1991LysfsTer?) c.5868_5871del (p.Asn1956LysfsTer?) c.5859_5862del (p.Asn1953LysfsTer?) c.5820_5823del (p.Asn1940LysfsTer?) c.5766_5769del (p.Asn1922LysfsTer?) c.5670_5673del (p.Asn1890LysfsTer?) c.5640_5643del (p.Asn1880LysfsTer?) c.5565_5568del (p.Asn1855LysfsTer?) c.5463_5466del (p.Asn1821LysfsTer?) c.5094_5097del (p.Asn1698LysfsTer?) | ClinVar |
| 5 | g.112841536A= | CA1573479697 | APC | c.5996A= (p.Asn1999=) c.*5948A= (n.*5948A=) c.5888A= (p.Asn1963=) c.5942A= (p.Asn1981=) c.*5264A= (n.*5264A=) c.230+12564A= c.5972A= (p.Asn1991=) c.5867A= (p.Asn1956=) c.5858A= (p.Asn1953=) c.5819A= (p.Asn1940=) c.5765A= (p.Asn1922=) c.5669A= (p.Asn1890=) c.5639A= (p.Asn1880=) c.5564A= (p.Asn1855=) c.5462A= (p.Asn1821=) c.5093A= (p.Asn1698=) | |
| 5 | g.112841536A>C | CA16034335 | APC | c.5996A>C (p.Asn1999Thr) c.*5948A>C (n.*5948A>C) c.5888A>C (p.Asn1963Thr) c.5942A>C (p.Asn1981Thr) c.*5264A>C (n.*5264A>C) c.230+12564A>C c.5972A>C (p.Asn1991Thr) c.5867A>C (p.Asn1956Thr) c.5858A>C (p.Asn1953Thr) c.5819A>C (p.Asn1940Thr) c.5765A>C (p.Asn1922Thr) c.5669A>C (p.Asn1890Thr) c.5639A>C (p.Asn1880Thr) c.5564A>C (p.Asn1855Thr) c.5462A>C (p.Asn1821Thr) c.5093A>C (p.Asn1698Thr) | ClinVar dbSNP |
| 5 | g.112841536A>G | CA16034336 | APC | c.5996A>G (p.Asn1999Ser) c.*5948A>G (n.*5948A>G) c.5888A>G (p.Asn1963Ser) c.5942A>G (p.Asn1981Ser) c.*5264A>G (n.*5264A>G) c.230+12564A>G c.5972A>G (p.Asn1991Ser) c.5867A>G (p.Asn1956Ser) c.5858A>G (p.Asn1953Ser) c.5819A>G (p.Asn1940Ser) c.5765A>G (p.Asn1922Ser) c.5669A>G (p.Asn1890Ser) c.5639A>G (p.Asn1880Ser) c.5564A>G (p.Asn1855Ser) c.5462A>G (p.Asn1821Ser) c.5093A>G (p.Asn1698Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112841536A>T | CA16034337 | APC | c.5996A>T (p.Asn1999Ile) c.*5948A>T (n.*5948A>T) c.5888A>T (p.Asn1963Ile) c.5942A>T (p.Asn1981Ile) c.*5264A>T (n.*5264A>T) c.230+12564A>T c.5972A>T (p.Asn1991Ile) c.5867A>T (p.Asn1956Ile) c.5858A>T (p.Asn1953Ile) c.5819A>T (p.Asn1940Ile) c.5765A>T (p.Asn1922Ile) c.5669A>T (p.Asn1890Ile) c.5639A>T (p.Asn1880Ile) c.5564A>T (p.Asn1855Ile) c.5462A>T (p.Asn1821Ile) c.5093A>T (p.Asn1698Ile) | dbSNP |
| 5 | g.112841537T>A | CA16034338 | APC | c.5997T>A (p.Asn1999Lys) c.*5949T>A (n.*5949T>A) c.5889T>A (p.Asn1963Lys) c.5943T>A (p.Asn1981Lys) c.*5265T>A (n.*5265T>A) c.230+12565T>A c.5973T>A (p.Asn1991Lys) c.5868T>A (p.Asn1956Lys) c.5859T>A (p.Asn1953Lys) c.5820T>A (p.Asn1940Lys) c.5766T>A (p.Asn1922Lys) c.5670T>A (p.Asn1890Lys) c.5640T>A (p.Asn1880Lys) c.5565T>A (p.Asn1855Lys) c.5463T>A (p.Asn1821Lys) c.5094T>A (p.Asn1698Lys) | ClinVar dbSNP |
| 5 | g.112841537T>C | CA446210055 | APC | c.5997T>C (p.Asn1999=) c.*5949T>C (n.*5949T>C) c.5889T>C (p.Asn1963=) c.5943T>C (p.Asn1981=) c.*5265T>C (n.*5265T>C) c.230+12565T>C c.5973T>C (p.Asn1991=) c.5868T>C (p.Asn1956=) c.5859T>C (p.Asn1953=) c.5820T>C (p.Asn1940=) c.5766T>C (p.Asn1922=) c.5670T>C (p.Asn1890=) c.5640T>C (p.Asn1880=) c.5565T>C (p.Asn1855=) c.5463T>C (p.Asn1821=) c.5094T>C (p.Asn1698=) | gnomAD v4 |
| 5 | g.112841537T>G | CA16034339 | APC | c.5997T>G (p.Asn1999Lys) c.*5949T>G (n.*5949T>G) c.5889T>G (p.Asn1963Lys) c.5943T>G (p.Asn1981Lys) c.*5265T>G (n.*5265T>G) c.230+12565T>G c.5973T>G (p.Asn1991Lys) c.5868T>G (p.Asn1956Lys) c.5859T>G (p.Asn1953Lys) c.5820T>G (p.Asn1940Lys) c.5766T>G (p.Asn1922Lys) c.5670T>G (p.Asn1890Lys) c.5640T>G (p.Asn1880Lys) c.5565T>G (p.Asn1855Lys) c.5463T>G (p.Asn1821Lys) c.5094T>G (p.Asn1698Lys) | |
| 5 | g.112841537T= | CA1573479709 | APC | c.5997T= (p.Asn1999=) c.*5949T= (n.*5949T=) c.5889T= (p.Asn1963=) c.5943T= (p.Asn1981=) c.*5265T= (n.*5265T=) c.230+12565T= c.5973T= (p.Asn1991=) c.5868T= (p.Asn1956=) c.5859T= (p.Asn1953=) c.5820T= (p.Asn1940=) c.5766T= (p.Asn1922=) c.5670T= (p.Asn1890=) c.5640T= (p.Asn1880=) c.5565T= (p.Asn1855=) c.5463T= (p.Asn1821=) c.5094T= (p.Asn1698=) | |
| 5 | g.112841538A= | CA1573479718 | APC | c.5998A= (p.Lys2000=) c.*5950A= (n.*5950A=) c.5890A= (p.Lys1964=) c.5944A= (p.Lys1982=) c.*5266A= (n.*5266A=) c.230+12566A= c.5974A= (p.Lys1992=) c.5869A= (p.Lys1957=) c.5860A= (p.Lys1954=) c.5821A= (p.Lys1941=) c.5767A= (p.Lys1923=) c.5671A= (p.Lys1891=) c.5641A= (p.Lys1881=) c.5566A= (p.Lys1856=) c.5464A= (p.Lys1822=) c.5095A= (p.Lys1699=) | |
| 5 | g.112841538A>C | CA16034340 | APC | c.5998A>C (p.Lys2000Gln) c.*5950A>C (n.*5950A>C) c.5890A>C (p.Lys1964Gln) c.5944A>C (p.Lys1982Gln) c.*5266A>C (n.*5266A>C) c.230+12566A>C c.5974A>C (p.Lys1992Gln) c.5869A>C (p.Lys1957Gln) c.5860A>C (p.Lys1954Gln) c.5821A>C (p.Lys1941Gln) c.5767A>C (p.Lys1923Gln) c.5671A>C (p.Lys1891Gln) c.5641A>C (p.Lys1881Gln) c.5566A>C (p.Lys1856Gln) c.5464A>C (p.Lys1822Gln) c.5095A>C (p.Lys1699Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112841538A>G | CA16034341 | APC | c.5998A>G (p.Lys2000Glu) c.*5950A>G (n.*5950A>G) c.5890A>G (p.Lys1964Glu) c.5944A>G (p.Lys1982Glu) c.*5266A>G (n.*5266A>G) c.230+12566A>G c.5974A>G (p.Lys1992Glu) c.5869A>G (p.Lys1957Glu) c.5860A>G (p.Lys1954Glu) c.5821A>G (p.Lys1941Glu) c.5767A>G (p.Lys1923Glu) c.5671A>G (p.Lys1891Glu) c.5641A>G (p.Lys1881Glu) c.5566A>G (p.Lys1856Glu) c.5464A>G (p.Lys1822Glu) c.5095A>G (p.Lys1699Glu) | ClinVar |
| 5 | g.112841538A>T | CA10578415 | APC | c.5998A>T (p.Lys2000Ter) c.*5950A>T (n.*5950A>T) c.5890A>T (p.Lys1964Ter) c.5944A>T (p.Lys1982Ter) c.*5266A>T (n.*5266A>T) c.230+12566A>T c.5974A>T (p.Lys1992Ter) c.5869A>T (p.Lys1957Ter) c.5860A>T (p.Lys1954Ter) c.5821A>T (p.Lys1941Ter) c.5767A>T (p.Lys1923Ter) c.5671A>T (p.Lys1891Ter) c.5641A>T (p.Lys1881Ter) c.5566A>T (p.Lys1856Ter) c.5464A>T (p.Lys1822Ter) c.5095A>T (p.Lys1699Ter) | ClinVar dbSNP |
| 5 | g.112841541_112841544del | CA658760809 | APC | c.6001_6004del (p.Glu2001MetfsTer?) c.*5953_*5956del (n.*5953_*5956del) c.5893_5896del (p.Glu1965MetfsTer?) c.5947_5950del (p.Glu1983MetfsTer?) c.*5269_*5272del (n.*5269_*5272del) c.230+12569_230+12572del c.5977_5980del (p.Glu1993MetfsTer?) c.5872_5875del (p.Glu1958MetfsTer?) c.5863_5866del (p.Glu1955MetfsTer?) c.5824_5827del (p.Glu1942MetfsTer?) c.5770_5773del (p.Glu1924MetfsTer?) c.5674_5677del (p.Glu1892MetfsTer?) c.5644_5647del (p.Glu1882MetfsTer?) c.5569_5572del (p.Glu1857MetfsTer?) c.5467_5470del (p.Glu1823MetfsTer?) c.5098_5101del (p.Glu1700MetfsTer?) | |
| 5 | g.112841539A>C | CA16034342 | APC | c.5999A>C (p.Lys2000Thr) c.*5951A>C (n.*5951A>C) c.5891A>C (p.Lys1964Thr) c.5945A>C (p.Lys1982Thr) c.*5267A>C (n.*5267A>C) c.230+12567A>C c.5975A>C (p.Lys1992Thr) c.5870A>C (p.Lys1957Thr) c.5861A>C (p.Lys1954Thr) c.5822A>C (p.Lys1941Thr) c.5768A>C (p.Lys1923Thr) c.5672A>C (p.Lys1891Thr) c.5642A>C (p.Lys1881Thr) c.5567A>C (p.Lys1856Thr) c.5465A>C (p.Lys1822Thr) c.5096A>C (p.Lys1699Thr) | |
| 5 | g.112841539A>G | CA16034343 | APC | c.5999A>G (p.Lys2000Arg) c.*5951A>G (n.*5951A>G) c.5891A>G (p.Lys1964Arg) c.5945A>G (p.Lys1982Arg) c.*5267A>G (n.*5267A>G) c.230+12567A>G c.5975A>G (p.Lys1992Arg) c.5870A>G (p.Lys1957Arg) c.5861A>G (p.Lys1954Arg) c.5822A>G (p.Lys1941Arg) c.5768A>G (p.Lys1923Arg) c.5672A>G (p.Lys1891Arg) c.5642A>G (p.Lys1881Arg) c.5567A>G (p.Lys1856Arg) c.5465A>G (p.Lys1822Arg) c.5096A>G (p.Lys1699Arg) | dbSNP |
| 5 | g.112841539A>T | CA16034344 | APC | c.5999A>T (p.Lys2000Ile) c.*5951A>T (n.*5951A>T) c.5891A>T (p.Lys1964Ile) c.5945A>T (p.Lys1982Ile) c.*5267A>T (n.*5267A>T) c.230+12567A>T c.5975A>T (p.Lys1992Ile) c.5870A>T (p.Lys1957Ile) c.5861A>T (p.Lys1954Ile) c.5822A>T (p.Lys1941Ile) c.5768A>T (p.Lys1923Ile) c.5672A>T (p.Lys1891Ile) c.5642A>T (p.Lys1881Ile) c.5567A>T (p.Lys1856Ile) c.5465A>T (p.Lys1822Ile) c.5096A>T (p.Lys1699Ile) | dbSNP |
| 5 | g.112841539_112841540insC | CA2568631243 | APC | c.5999_6000insC (p.Lys2000AsnfsTer4) c.*5951_*5952insC (n.*5951_*5952insC) c.5891_5892insC (p.Lys1964AsnfsTer4) c.5945_5946insC (p.Lys1982AsnfsTer4) c.*5267_*5268insC (n.*5267_*5268insC) c.230+12567_230+12568insC c.5975_5976insC (p.Lys1992AsnfsTer4) c.5870_5871insC (p.Lys1957AsnfsTer4) c.5861_5862insC (p.Lys1954AsnfsTer4) c.5822_5823insC (p.Lys1941AsnfsTer4) c.5768_5769insC (p.Lys1923AsnfsTer4) c.5672_5673insC (p.Lys1891AsnfsTer4) c.5642_5643insC (p.Lys1881AsnfsTer4) c.5567_5568insC (p.Lys1856AsnfsTer4) c.5465_5466insC (p.Lys1822AsnfsTer4) c.5096_5097insC (p.Lys1699AsnfsTer4) |