| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112837777_112837929delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT | CA1573479832 | APC | c.1848_2000delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (n.1848_2000delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT) c.2237_2389delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn746=) c.*2189_*2341delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (n.*2189_*2341delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT) c.2129_2281delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn710=) c.2183_2335delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn728=) c.536_688delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT c.*1505_*1657delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (n.*1505_*1657delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT) c.230+8805_230+8957delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT c.2213_2365delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn738=) c.2108_2260delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn703=) c.2099_2251delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn700=) c.2060_2212delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn687=) c.2006_2158delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn669=) c.1910_2062delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn637=) c.1880_2032delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn627=) c.1805_1957delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn602=) c.1703_1855delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn568=) c.1334_1486delinsATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATT (p.Asn445=) | |
| 5 | g.112837779_112837930del | CA645369359 | APC | c.1850_2001del (n.1850_2001del) c.2239_2390del (p.Leu747LysfsTer8) c.*2191_*2342del (n.*2191_*2342del) c.2131_2282del (p.Leu711LysfsTer8) c.2185_2336del (p.Leu729LysfsTer8) c.538_689del c.*1507_*1658del (n.*1507_*1658del) c.230+8807_230+8958del c.2215_2366del (p.Leu739LysfsTer8) c.2110_2261del (p.Leu704LysfsTer8) c.2101_2252del (p.Leu701LysfsTer8) c.2062_2213del (p.Leu688LysfsTer8) c.2008_2159del (p.Leu670LysfsTer8) c.1912_2063del (p.Leu638LysfsTer8) c.1882_2033del (p.Leu628LysfsTer8) c.1807_1958del (p.Leu603LysfsTer8) c.1705_1856del (p.Leu569LysfsTer8) c.1336_1487del (p.Leu446LysfsTer8) | ClinVar dbSNP |
| 5 | g.112837798_112837802del | CA2582341437 | APC | c.1869_1873del (n.1869_1873del) c.2258_2262del (p.Ala753ValfsTer19) c.*2210_*2214del (n.*2210_*2214del) c.2150_2154del (p.Ala717ValfsTer19) c.2204_2208del (p.Ala735ValfsTer19) c.557_561del c.*1526_*1530del (n.*1526_*1530del) c.230+8826_230+8830del c.2234_2238del (p.Ala745ValfsTer19) c.2129_2133del (p.Ala710ValfsTer19) c.2120_2124del (p.Ala707ValfsTer19) c.2081_2085del (p.Ala694ValfsTer19) c.2027_2031del (p.Ala676ValfsTer19) c.1931_1935del (p.Ala644ValfsTer19) c.1901_1905del (p.Ala634ValfsTer19) c.1826_1830del (p.Ala609ValfsTer19) c.1724_1728del (p.Ala575ValfsTer19) c.1355_1359del (p.Ala452ValfsTer19) | ClinVar |
| 5 | g.112837802G>A | CA445963526 | APC | c.1873G>A (n.1873G>A) c.2262G>A (p.Lys754=) c.*2214G>A (n.*2214G>A) c.2154G>A (p.Lys718=) c.2208G>A (p.Lys736=) c.561G>A c.*1530G>A (n.*1530G>A) c.230+8830G>A c.2238G>A (p.Lys746=) c.2133G>A (p.Lys711=) c.2124G>A (p.Lys708=) c.2085G>A (p.Lys695=) c.2031G>A (p.Lys677=) c.1935G>A (p.Lys645=) c.1905G>A (p.Lys635=) c.1830G>A (p.Lys610=) c.1728G>A (p.Lys576=) c.1359G>A (p.Lys453=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112837802G>C | CA16026168 | APC | c.1873G>C (n.1873G>C) c.2262G>C (p.Lys754Asn) c.*2214G>C (n.*2214G>C) c.2154G>C (p.Lys718Asn) c.2208G>C (p.Lys736Asn) c.561G>C c.*1530G>C (n.*1530G>C) c.230+8830G>C c.2238G>C (p.Lys746Asn) c.2133G>C (p.Lys711Asn) c.2124G>C (p.Lys708Asn) c.2085G>C (p.Lys695Asn) c.2031G>C (p.Lys677Asn) c.1935G>C (p.Lys645Asn) c.1905G>C (p.Lys635Asn) c.1830G>C (p.Lys610Asn) c.1728G>C (p.Lys576Asn) c.1359G>C (p.Lys453Asn) | ClinVar dbSNP |
| 5 | g.112837802G>T | CA16026169 | APC | c.1873G>T (n.1873G>T) c.2262G>T (p.Lys754Asn) c.*2214G>T (n.*2214G>T) c.2154G>T (p.Lys718Asn) c.2208G>T (p.Lys736Asn) c.561G>T c.*1530G>T (n.*1530G>T) c.230+8830G>T c.2238G>T (p.Lys746Asn) c.2133G>T (p.Lys711Asn) c.2124G>T (p.Lys708Asn) c.2085G>T (p.Lys695Asn) c.2031G>T (p.Lys677Asn) c.1935G>T (p.Lys645Asn) c.1905G>T (p.Lys635Asn) c.1830G>T (p.Lys610Asn) c.1728G>T (p.Lys576Asn) c.1359G>T (p.Lys453Asn) | |
| 5 | g.112837803_112837812del | CA658760691 | APC | c.1874_1883del (n.1874_1883del) c.2263_2272del (p.Tyr755ProfsTer21) c.*2215_*2224del (n.*2215_*2224del) c.2155_2164del (p.Tyr719ProfsTer21) c.2209_2218del (p.Tyr737ProfsTer21) c.562_571del c.*1531_*1540del (n.*1531_*1540del) c.230+8831_230+8840del c.2239_2248del (p.Tyr747ProfsTer21) c.2134_2143del (p.Tyr712ProfsTer21) c.2125_2134del (p.Tyr709ProfsTer21) c.2086_2095del (p.Tyr696ProfsTer21) c.2032_2041del (p.Tyr678ProfsTer21) c.1936_1945del (p.Tyr646ProfsTer21) c.1906_1915del (p.Tyr636ProfsTer21) c.1831_1840del (p.Tyr611ProfsTer21) c.1729_1738del (p.Tyr577ProfsTer21) c.1360_1369del (p.Tyr454ProfsTer21) | |
| 5 | g.112837803T>A | CA16026170 | APC | c.1874T>A (n.1874T>A) c.2263T>A (p.Tyr755Asn) c.*2215T>A (n.*2215T>A) c.2155T>A (p.Tyr719Asn) c.2209T>A (p.Tyr737Asn) c.562T>A c.*1531T>A (n.*1531T>A) c.230+8831T>A c.2239T>A (p.Tyr747Asn) c.2134T>A (p.Tyr712Asn) c.2125T>A (p.Tyr709Asn) c.2086T>A (p.Tyr696Asn) c.2032T>A (p.Tyr678Asn) c.1936T>A (p.Tyr646Asn) c.1906T>A (p.Tyr636Asn) c.1831T>A (p.Tyr611Asn) c.1729T>A (p.Tyr577Asn) c.1360T>A (p.Tyr454Asn) | dbSNP |
| 5 | g.112837803T>C | CA031174 | APC | c.1874T>C (n.1874T>C) c.2263T>C (p.Tyr755His) c.*2215T>C (n.*2215T>C) c.2155T>C (p.Tyr719His) c.2209T>C (p.Tyr737His) c.562T>C c.*1531T>C (n.*1531T>C) c.230+8831T>C c.2239T>C (p.Tyr747His) c.2134T>C (p.Tyr712His) c.2125T>C (p.Tyr709His) c.2086T>C (p.Tyr696His) c.2032T>C (p.Tyr678His) c.1936T>C (p.Tyr646His) c.1906T>C (p.Tyr636His) c.1831T>C (p.Tyr611His) c.1729T>C (p.Tyr577His) c.1360T>C (p.Tyr454His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112837803T>G | CA16026171 | APC | c.1874T>G (n.1874T>G) c.2263T>G (p.Tyr755Asp) c.*2215T>G (n.*2215T>G) c.2155T>G (p.Tyr719Asp) c.2209T>G (p.Tyr737Asp) c.562T>G c.*1531T>G (n.*1531T>G) c.230+8831T>G c.2239T>G (p.Tyr747Asp) c.2134T>G (p.Tyr712Asp) c.2125T>G (p.Tyr709Asp) c.2086T>G (p.Tyr696Asp) c.2032T>G (p.Tyr678Asp) c.1936T>G (p.Tyr646Asp) c.1906T>G (p.Tyr636Asp) c.1831T>G (p.Tyr611Asp) c.1729T>G (p.Tyr577Asp) c.1360T>G (p.Tyr454Asp) | dbSNP |
| 5 | g.112837803T= | CA1573480008 | APC | c.1874T= (n.1874T=) c.2263T= (p.Tyr755=) c.*2215T= (n.*2215T=) c.2155T= (p.Tyr719=) c.2209T= (p.Tyr737=) c.562T= c.*1531T= (n.*1531T=) c.230+8831T= c.2239T= (p.Tyr747=) c.2134T= (p.Tyr712=) c.2125T= (p.Tyr709=) c.2086T= (p.Tyr696=) c.2032T= (p.Tyr678=) c.1936T= (p.Tyr646=) c.1906T= (p.Tyr636=) c.1831T= (p.Tyr611=) c.1729T= (p.Tyr577=) c.1360T= (p.Tyr454=) | |
| 5 | g.112837804A>C | CA16026172 | APC | c.1875A>C (n.1875A>C) c.2264A>C (p.Tyr755Ser) c.*2216A>C (n.*2216A>C) c.2156A>C (p.Tyr719Ser) c.2210A>C (p.Tyr737Ser) c.563A>C c.*1532A>C (n.*1532A>C) c.230+8832A>C c.2240A>C (p.Tyr747Ser) c.2135A>C (p.Tyr712Ser) c.2126A>C (p.Tyr709Ser) c.2087A>C (p.Tyr696Ser) c.2033A>C (p.Tyr678Ser) c.1937A>C (p.Tyr646Ser) c.1907A>C (p.Tyr636Ser) c.1832A>C (p.Tyr611Ser) c.1730A>C (p.Tyr577Ser) c.1361A>C (p.Tyr454Ser) | dbSNP |
| 5 | g.112837804A>G | CA16026173 | APC | c.1875A>G (n.1875A>G) c.2264A>G (p.Tyr755Cys) c.*2216A>G (n.*2216A>G) c.2156A>G (p.Tyr719Cys) c.2210A>G (p.Tyr737Cys) c.563A>G c.*1532A>G (n.*1532A>G) c.230+8832A>G c.2240A>G (p.Tyr747Cys) c.2135A>G (p.Tyr712Cys) c.2126A>G (p.Tyr709Cys) c.2087A>G (p.Tyr696Cys) c.2033A>G (p.Tyr678Cys) c.1937A>G (p.Tyr646Cys) c.1907A>G (p.Tyr636Cys) c.1832A>G (p.Tyr611Cys) c.1730A>G (p.Tyr577Cys) c.1361A>G (p.Tyr454Cys) | dbSNP |
| 5 | g.112837804A>T | CA16026174 | APC | c.1875A>T (n.1875A>T) c.2264A>T (p.Tyr755Phe) c.*2216A>T (n.*2216A>T) c.2156A>T (p.Tyr719Phe) c.2210A>T (p.Tyr737Phe) c.563A>T c.*1532A>T (n.*1532A>T) c.230+8832A>T c.2240A>T (p.Tyr747Phe) c.2135A>T (p.Tyr712Phe) c.2126A>T (p.Tyr709Phe) c.2087A>T (p.Tyr696Phe) c.2033A>T (p.Tyr678Phe) c.1937A>T (p.Tyr646Phe) c.1907A>T (p.Tyr636Phe) c.1832A>T (p.Tyr611Phe) c.1730A>T (p.Tyr577Phe) c.1361A>T (p.Tyr454Phe) | ClinVar dbSNP |
| 5 | g.112837805C>A | CA16026175 | APC | c.1876C>A (n.1876C>A) c.2265C>A (p.Tyr755Ter) c.*2217C>A (n.*2217C>A) c.2157C>A (p.Tyr719Ter) c.2211C>A (p.Tyr737Ter) c.564C>A c.*1533C>A (n.*1533C>A) c.230+8833C>A c.2241C>A (p.Tyr747Ter) c.2136C>A (p.Tyr712Ter) c.2127C>A (p.Tyr709Ter) c.2088C>A (p.Tyr696Ter) c.2034C>A (p.Tyr678Ter) c.1938C>A (p.Tyr646Ter) c.1908C>A (p.Tyr636Ter) c.1833C>A (p.Tyr611Ter) c.1731C>A (p.Tyr577Ter) c.1362C>A (p.Tyr454Ter) | ClinVar dbSNP |
| 5 | g.112837805C= | CA1573480016 | APC | c.1876C= (n.1876C=) c.2265C= (p.Tyr755=) c.*2217C= (n.*2217C=) c.2157C= (p.Tyr719=) c.2211C= (p.Tyr737=) c.564C= c.*1533C= (n.*1533C=) c.230+8833C= c.2241C= (p.Tyr747=) c.2136C= (p.Tyr712=) c.2127C= (p.Tyr709=) c.2088C= (p.Tyr696=) c.2034C= (p.Tyr678=) c.1938C= (p.Tyr646=) c.1908C= (p.Tyr636=) c.1833C= (p.Tyr611=) c.1731C= (p.Tyr577=) c.1362C= (p.Tyr454=) | |
| 5 | g.112837805C>G | CA16026176 | APC | c.1876C>G (n.1876C>G) c.2265C>G (p.Tyr755Ter) c.*2217C>G (n.*2217C>G) c.2157C>G (p.Tyr719Ter) c.2211C>G (p.Tyr737Ter) c.564C>G c.*1533C>G (n.*1533C>G) c.230+8833C>G c.2241C>G (p.Tyr747Ter) c.2136C>G (p.Tyr712Ter) c.2127C>G (p.Tyr709Ter) c.2088C>G (p.Tyr696Ter) c.2034C>G (p.Tyr678Ter) c.1938C>G (p.Tyr646Ter) c.1908C>G (p.Tyr636Ter) c.1833C>G (p.Tyr611Ter) c.1731C>G (p.Tyr577Ter) c.1362C>G (p.Tyr454Ter) | ClinVar dbSNP |
| 5 | g.112837805C>T | CA445963527 | APC | c.1876C>T (n.1876C>T) c.2265C>T (p.Tyr755=) c.*2217C>T (n.*2217C>T) c.2157C>T (p.Tyr719=) c.2211C>T (p.Tyr737=) c.564C>T c.*1533C>T (n.*1533C>T) c.230+8833C>T c.2241C>T (p.Tyr747=) c.2136C>T (p.Tyr712=) c.2127C>T (p.Tyr709=) c.2088C>T (p.Tyr696=) c.2034C>T (p.Tyr678=) c.1938C>T (p.Tyr646=) c.1908C>T (p.Tyr636=) c.1833C>T (p.Tyr611=) c.1731C>T (p.Tyr577=) c.1362C>T (p.Tyr454=) | ClinVar dbSNP |
| 5 | g.112837806A>C | CA16026177 | APC | c.1877A>C (n.1877A>C) c.2266A>C (p.Lys756Gln) c.*2218A>C (n.*2218A>C) c.2158A>C (p.Lys720Gln) c.2212A>C (p.Lys738Gln) c.565A>C c.*1534A>C (n.*1534A>C) c.230+8834A>C c.2242A>C (p.Lys748Gln) c.2137A>C (p.Lys713Gln) c.2128A>C (p.Lys710Gln) c.2089A>C (p.Lys697Gln) c.2035A>C (p.Lys679Gln) c.1939A>C (p.Lys647Gln) c.1909A>C (p.Lys637Gln) c.1834A>C (p.Lys612Gln) c.1732A>C (p.Lys578Gln) c.1363A>C (p.Lys455Gln) | ClinVar |
| 5 | g.112837806A>G | CA16026178 | APC | c.1877A>G (n.1877A>G) c.2266A>G (p.Lys756Glu) c.*2218A>G (n.*2218A>G) c.2158A>G (p.Lys720Glu) c.2212A>G (p.Lys738Glu) c.565A>G c.*1534A>G (n.*1534A>G) c.230+8834A>G c.2242A>G (p.Lys748Glu) c.2137A>G (p.Lys713Glu) c.2128A>G (p.Lys710Glu) c.2089A>G (p.Lys697Glu) c.2035A>G (p.Lys679Glu) c.1939A>G (p.Lys647Glu) c.1909A>G (p.Lys637Glu) c.1834A>G (p.Lys612Glu) c.1732A>G (p.Lys578Glu) c.1363A>G (p.Lys455Glu) | ClinVar dbSNP COSMIC |
| 5 | g.112837806A>T | CA16026179 | APC | c.1877A>T (n.1877A>T) c.2266A>T (p.Lys756Ter) c.*2218A>T (n.*2218A>T) c.2158A>T (p.Lys720Ter) c.2212A>T (p.Lys738Ter) c.565A>T c.*1534A>T (n.*1534A>T) c.230+8834A>T c.2242A>T (p.Lys748Ter) c.2137A>T (p.Lys713Ter) c.2128A>T (p.Lys710Ter) c.2089A>T (p.Lys697Ter) c.2035A>T (p.Lys679Ter) c.1939A>T (p.Lys647Ter) c.1909A>T (p.Lys637Ter) c.1834A>T (p.Lys612Ter) c.1732A>T (p.Lys578Ter) c.1363A>T (p.Lys455Ter) | ClinVar dbSNP |
| 5 | g.112837806_112837807del | CA2580072448 | APC | c.1877_1878del (n.1877_1878del) c.2266_2267del (p.Lys756GlyfsTer17) c.*2218_*2219del (n.*2218_*2219del) c.2158_2159del (p.Lys720GlyfsTer17) c.2212_2213del (p.Lys738GlyfsTer17) c.565_566del c.*1534_*1535del (n.*1534_*1535del) c.230+8834_230+8835del c.2242_2243del (p.Lys748GlyfsTer17) c.2137_2138del (p.Lys713GlyfsTer17) c.2128_2129del (p.Lys710GlyfsTer17) c.2089_2090del (p.Lys697GlyfsTer17) c.2035_2036del (p.Lys679GlyfsTer17) c.1939_1940del (p.Lys647GlyfsTer17) c.1909_1910del (p.Lys637GlyfsTer17) c.1834_1835del (p.Lys612GlyfsTer17) c.1732_1733del (p.Lys578GlyfsTer17) c.1363_1364del (p.Lys455GlyfsTer17) | ClinVar |
| 5 | g.112837807A= | CA1573480028 | APC | c.1878A= (n.1878A=) c.2267A= (p.Lys756=) c.*2219A= (n.*2219A=) c.2159A= (p.Lys720=) c.2213A= (p.Lys738=) c.566A= c.*1535A= (n.*1535A=) c.230+8835A= c.2243A= (p.Lys748=) c.2138A= (p.Lys713=) c.2129A= (p.Lys710=) c.2090A= (p.Lys697=) c.2036A= (p.Lys679=) c.1940A= (p.Lys647=) c.1910A= (p.Lys637=) c.1835A= (p.Lys612=) c.1733A= (p.Lys578=) c.1364A= (p.Lys455=) | |
| 5 | g.112837807A>C | CA16026180 | APC | c.1878A>C (n.1878A>C) c.2267A>C (p.Lys756Thr) c.*2219A>C (n.*2219A>C) c.2159A>C (p.Lys720Thr) c.2213A>C (p.Lys738Thr) c.566A>C c.*1535A>C (n.*1535A>C) c.230+8835A>C c.2243A>C (p.Lys748Thr) c.2138A>C (p.Lys713Thr) c.2129A>C (p.Lys710Thr) c.2090A>C (p.Lys697Thr) c.2036A>C (p.Lys679Thr) c.1940A>C (p.Lys647Thr) c.1910A>C (p.Lys637Thr) c.1835A>C (p.Lys612Thr) c.1733A>C (p.Lys578Thr) c.1364A>C (p.Lys455Thr) | |
| 5 | g.112837807A>G | CA16026181 | APC | c.1878A>G (n.1878A>G) c.2267A>G (p.Lys756Arg) c.*2219A>G (n.*2219A>G) c.2159A>G (p.Lys720Arg) c.2213A>G (p.Lys738Arg) c.566A>G c.*1535A>G (n.*1535A>G) c.230+8835A>G c.2243A>G (p.Lys748Arg) c.2138A>G (p.Lys713Arg) c.2129A>G (p.Lys710Arg) c.2090A>G (p.Lys697Arg) c.2036A>G (p.Lys679Arg) c.1940A>G (p.Lys647Arg) c.1910A>G (p.Lys637Arg) c.1835A>G (p.Lys612Arg) c.1733A>G (p.Lys578Arg) c.1364A>G (p.Lys455Arg) | ClinVar dbSNP |
| 5 | g.112837807A>T | CA16026182 | APC | c.1878A>T (n.1878A>T) c.2267A>T (p.Lys756Met) c.*2219A>T (n.*2219A>T) c.2159A>T (p.Lys720Met) c.2213A>T (p.Lys738Met) c.566A>T c.*1535A>T (n.*1535A>T) c.230+8835A>T c.2243A>T (p.Lys748Met) c.2138A>T (p.Lys713Met) c.2129A>T (p.Lys710Met) c.2090A>T (p.Lys697Met) c.2036A>T (p.Lys679Met) c.1940A>T (p.Lys647Met) c.1910A>T (p.Lys637Met) c.1835A>T (p.Lys612Met) c.1733A>T (p.Lys578Met) c.1364A>T (p.Lys455Met) | |
| 5 | g.112837808G>A | CA445963251 | APC | c.1879G>A (n.1879G>A) c.2268G>A (p.Lys756=) c.*2220G>A (n.*2220G>A) c.2160G>A (p.Lys720=) c.2214G>A (p.Lys738=) c.567G>A c.*1536G>A (n.*1536G>A) c.230+8836G>A c.2244G>A (p.Lys748=) c.2139G>A (p.Lys713=) c.2130G>A (p.Lys710=) c.2091G>A (p.Lys697=) c.2037G>A (p.Lys679=) c.1941G>A (p.Lys647=) c.1911G>A (p.Lys637=) c.1836G>A (p.Lys612=) c.1734G>A (p.Lys578=) c.1365G>A (p.Lys455=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112837808G>C | CA16026183 | APC | c.1879G>C (n.1879G>C) c.2268G>C (p.Lys756Asn) c.*2220G>C (n.*2220G>C) c.2160G>C (p.Lys720Asn) c.2214G>C (p.Lys738Asn) c.567G>C c.*1536G>C (n.*1536G>C) c.230+8836G>C c.2244G>C (p.Lys748Asn) c.2139G>C (p.Lys713Asn) c.2130G>C (p.Lys710Asn) c.2091G>C (p.Lys697Asn) c.2037G>C (p.Lys679Asn) c.1941G>C (p.Lys647Asn) c.1911G>C (p.Lys637Asn) c.1836G>C (p.Lys612Asn) c.1734G>C (p.Lys578Asn) c.1365G>C (p.Lys455Asn) | dbSNP |
| 5 | g.112837808G= | CA1573480039 | APC | c.1879G= (n.1879G=) c.2268G= (p.Lys756=) c.*2220G= (n.*2220G=) c.2160G= (p.Lys720=) c.2214G= (p.Lys738=) c.567G= c.*1536G= (n.*1536G=) c.230+8836G= c.2244G= (p.Lys748=) c.2139G= (p.Lys713=) c.2130G= (p.Lys710=) c.2091G= (p.Lys697=) c.2037G= (p.Lys679=) c.1941G= (p.Lys647=) c.1911G= (p.Lys637=) c.1836G= (p.Lys612=) c.1734G= (p.Lys578=) c.1365G= (p.Lys455=) | |
| 5 | g.112837808G>T | CA16026184 | APC | c.1879G>T (n.1879G>T) c.2268G>T (p.Lys756Asn) c.*2220G>T (n.*2220G>T) c.2160G>T (p.Lys720Asn) c.2214G>T (p.Lys738Asn) c.567G>T c.*1536G>T (n.*1536G>T) c.230+8836G>T c.2244G>T (p.Lys748Asn) c.2139G>T (p.Lys713Asn) c.2130G>T (p.Lys710Asn) c.2091G>T (p.Lys697Asn) c.2037G>T (p.Lys679Asn) c.1941G>T (p.Lys647Asn) c.1911G>T (p.Lys637Asn) c.1836G>T (p.Lys612Asn) c.1734G>T (p.Lys578Asn) c.1365G>T (p.Lys455Asn) | ClinVar dbSNP |
| 5 | g.112837809del | CA2695204823 | APC | c.1880del (n.1880del) c.2269del (p.Asp757MetfsTer22) c.*2221del (n.*2221del) c.2161del (p.Asp721MetfsTer22) c.2215del (p.Asp739MetfsTer22) c.568del c.*1537del (n.*1537del) c.230+8837del c.2245del (p.Asp749MetfsTer22) c.2140del (p.Asp714MetfsTer22) c.2131del (p.Asp711MetfsTer22) c.2092del (p.Asp698MetfsTer22) c.2038del (p.Asp680MetfsTer22) c.1942del (p.Asp648MetfsTer22) c.1912del (p.Asp638MetfsTer22) c.1837del (p.Asp613MetfsTer22) c.1735del (p.Asp579MetfsTer22) c.1366del (p.Asp456MetfsTer22) | |
| 5 | g.112837809G>A | CA16026185 | APC | c.1880G>A (n.1880G>A) c.2269G>A (p.Asp757Asn) c.*2221G>A (n.*2221G>A) c.2161G>A (p.Asp721Asn) c.2215G>A (p.Asp739Asn) c.568G>A c.*1537G>A (n.*1537G>A) c.230+8837G>A c.2245G>A (p.Asp749Asn) c.2140G>A (p.Asp714Asn) c.2131G>A (p.Asp711Asn) c.2092G>A (p.Asp698Asn) c.2038G>A (p.Asp680Asn) c.1942G>A (p.Asp648Asn) c.1912G>A (p.Asp638Asn) c.1837G>A (p.Asp613Asn) c.1735G>A (p.Asp579Asn) c.1366G>A (p.Asp456Asn) | dbSNP gnomAD v4 |
| 5 | g.112837809G>C | CA16026186 | APC | c.1880G>C (n.1880G>C) c.2269G>C (p.Asp757His) c.*2221G>C (n.*2221G>C) c.2161G>C (p.Asp721His) c.2215G>C (p.Asp739His) c.568G>C c.*1537G>C (n.*1537G>C) c.230+8837G>C c.2245G>C (p.Asp749His) c.2140G>C (p.Asp714His) c.2131G>C (p.Asp711His) c.2092G>C (p.Asp698His) c.2038G>C (p.Asp680His) c.1942G>C (p.Asp648His) c.1912G>C (p.Asp638His) c.1837G>C (p.Asp613His) c.1735G>C (p.Asp579His) c.1366G>C (p.Asp456His) | ClinVar dbSNP |
| 5 | g.112837809G>T | CA16026187 | APC | c.1880G>T (n.1880G>T) c.2269G>T (p.Asp757Tyr) c.*2221G>T (n.*2221G>T) c.2161G>T (p.Asp721Tyr) c.2215G>T (p.Asp739Tyr) c.568G>T c.*1537G>T (n.*1537G>T) c.230+8837G>T c.2245G>T (p.Asp749Tyr) c.2140G>T (p.Asp714Tyr) c.2131G>T (p.Asp711Tyr) c.2092G>T (p.Asp698Tyr) c.2038G>T (p.Asp680Tyr) c.1942G>T (p.Asp648Tyr) c.1912G>T (p.Asp638Tyr) c.1837G>T (p.Asp613Tyr) c.1735G>T (p.Asp579Tyr) c.1366G>T (p.Asp456Tyr) | dbSNP |
| 5 | g.112837810A>C | CA16026188 | APC | c.1881A>C (n.1881A>C) c.2270A>C (p.Asp757Ala) c.*2222A>C (n.*2222A>C) c.2162A>C (p.Asp721Ala) c.2216A>C (p.Asp739Ala) c.569A>C c.*1538A>C (n.*1538A>C) c.230+8838A>C c.2246A>C (p.Asp749Ala) c.2141A>C (p.Asp714Ala) c.2132A>C (p.Asp711Ala) c.2093A>C (p.Asp698Ala) c.2039A>C (p.Asp680Ala) c.1943A>C (p.Asp648Ala) c.1913A>C (p.Asp638Ala) c.1838A>C (p.Asp613Ala) c.1736A>C (p.Asp579Ala) c.1367A>C (p.Asp456Ala) | ClinVar |
| 5 | g.112837810A>G | CA16026189 | APC | c.1881A>G (n.1881A>G) c.2270A>G (p.Asp757Gly) c.*2222A>G (n.*2222A>G) c.2162A>G (p.Asp721Gly) c.2216A>G (p.Asp739Gly) c.569A>G c.*1538A>G (n.*1538A>G) c.230+8838A>G c.2246A>G (p.Asp749Gly) c.2141A>G (p.Asp714Gly) c.2132A>G (p.Asp711Gly) c.2093A>G (p.Asp698Gly) c.2039A>G (p.Asp680Gly) c.1943A>G (p.Asp648Gly) c.1913A>G (p.Asp638Gly) c.1838A>G (p.Asp613Gly) c.1736A>G (p.Asp579Gly) c.1367A>G (p.Asp456Gly) | dbSNP |
| 5 | g.112837810A>T | CA16026190 | APC | c.1881A>T (n.1881A>T) c.2270A>T (p.Asp757Val) c.*2222A>T (n.*2222A>T) c.2162A>T (p.Asp721Val) c.2216A>T (p.Asp739Val) c.569A>T c.*1538A>T (n.*1538A>T) c.230+8838A>T c.2246A>T (p.Asp749Val) c.2141A>T (p.Asp714Val) c.2132A>T (p.Asp711Val) c.2093A>T (p.Asp698Val) c.2039A>T (p.Asp680Val) c.1943A>T (p.Asp648Val) c.1913A>T (p.Asp638Val) c.1838A>T (p.Asp613Val) c.1736A>T (p.Asp579Val) c.1367A>T (p.Asp456Val) | dbSNP gnomAD v4 |
| 5 | g.112837810_112837813dup | CA658760692 | APC | c.1881_1884dup (n.1881_1884dup) c.2270_2273dup (p.Asn759CysfsTer16) c.*2222_*2225dup (n.*2222_*2225dup) c.2162_2165dup (p.Asn723CysfsTer16) c.2216_2219dup (p.Asn741CysfsTer16) c.569_572dup c.*1538_*1541dup (n.*1538_*1541dup) c.230+8838_230+8841dup c.2246_2249dup (p.Asn751CysfsTer16) c.2141_2144dup (p.Asn716CysfsTer16) c.2132_2135dup (p.Asn713CysfsTer16) c.2093_2096dup (p.Asn700CysfsTer16) c.2039_2042dup (p.Asn682CysfsTer16) c.1943_1946dup (p.Asn650CysfsTer16) c.1913_1916dup (p.Asn640CysfsTer16) c.1838_1841dup (p.Asn615CysfsTer16) c.1736_1739dup (p.Asn581CysfsTer16) c.1367_1370dup (p.Asn458CysfsTer16) | |
| 5 | g.112837811T>A | CA16026191 | APC | c.1882T>A (n.1882T>A) c.2271T>A (p.Asp757Glu) c.*2223T>A (n.*2223T>A) c.2163T>A (p.Asp721Glu) c.2217T>A (p.Asp739Glu) c.570T>A c.*1539T>A (n.*1539T>A) c.230+8839T>A c.2247T>A (p.Asp749Glu) c.2142T>A (p.Asp714Glu) c.2133T>A (p.Asp711Glu) c.2094T>A (p.Asp698Glu) c.2040T>A (p.Asp680Glu) c.1944T>A (p.Asp648Glu) c.1914T>A (p.Asp638Glu) c.1839T>A (p.Asp613Glu) c.1737T>A (p.Asp579Glu) c.1368T>A (p.Asp456Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112837811T>C | CA445963252 | APC | c.1882T>C (n.1882T>C) c.2271T>C (p.Asp757=) c.*2223T>C (n.*2223T>C) c.2163T>C (p.Asp721=) c.2217T>C (p.Asp739=) c.570T>C c.*1539T>C (n.*1539T>C) c.230+8839T>C c.2247T>C (p.Asp749=) c.2142T>C (p.Asp714=) c.2133T>C (p.Asp711=) c.2094T>C (p.Asp698=) c.2040T>C (p.Asp680=) c.1944T>C (p.Asp648=) c.1914T>C (p.Asp638=) c.1839T>C (p.Asp613=) c.1737T>C (p.Asp579=) c.1368T>C (p.Asp456=) | |
| 5 | g.112837811T>G | CA16026192 | APC | c.1882T>G (n.1882T>G) c.2271T>G (p.Asp757Glu) c.*2223T>G (n.*2223T>G) c.2163T>G (p.Asp721Glu) c.2217T>G (p.Asp739Glu) c.570T>G c.*1539T>G (n.*1539T>G) c.230+8839T>G c.2247T>G (p.Asp749Glu) c.2142T>G (p.Asp714Glu) c.2133T>G (p.Asp711Glu) c.2094T>G (p.Asp698Glu) c.2040T>G (p.Asp680Glu) c.1944T>G (p.Asp648Glu) c.1914T>G (p.Asp638Glu) c.1839T>G (p.Asp613Glu) c.1737T>G (p.Asp579Glu) c.1368T>G (p.Asp456Glu) | ClinVar dbSNP |
| 5 | g.112837811T= | CA1573480051 | APC | c.1882T= (n.1882T=) c.2271T= (p.Asp757=) c.*2223T= (n.*2223T=) c.2163T= (p.Asp721=) c.2217T= (p.Asp739=) c.570T= c.*1539T= (n.*1539T=) c.230+8839T= c.2247T= (p.Asp749=) c.2142T= (p.Asp714=) c.2133T= (p.Asp711=) c.2094T= (p.Asp698=) c.2040T= (p.Asp680=) c.1944T= (p.Asp648=) c.1914T= (p.Asp638=) c.1839T= (p.Asp613=) c.1737T= (p.Asp579=) c.1368T= (p.Asp456=) | |
| 5 | g.112837812G>A | CA16026193 | APC | c.1883G>A (n.1883G>A) c.2272G>A (p.Ala758Thr) c.*2224G>A (n.*2224G>A) c.2164G>A (p.Ala722Thr) c.2218G>A (p.Ala740Thr) c.571G>A c.*1540G>A (n.*1540G>A) c.230+8840G>A c.2248G>A (p.Ala750Thr) c.2143G>A (p.Ala715Thr) c.2134G>A (p.Ala712Thr) c.2095G>A (p.Ala699Thr) c.2041G>A (p.Ala681Thr) c.1945G>A (p.Ala649Thr) c.1915G>A (p.Ala639Thr) c.1840G>A (p.Ala614Thr) c.1738G>A (p.Ala580Thr) c.1369G>A (p.Ala457Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112837812G>C | CA007292 | APC | c.1883G>C (n.1883G>C) c.2272G>C (p.Ala758Pro) c.*2224G>C (n.*2224G>C) c.2164G>C (p.Ala722Pro) c.2218G>C (p.Ala740Pro) c.571G>C c.*1540G>C (n.*1540G>C) c.230+8840G>C c.2248G>C (p.Ala750Pro) c.2143G>C (p.Ala715Pro) c.2134G>C (p.Ala712Pro) c.2095G>C (p.Ala699Pro) c.2041G>C (p.Ala681Pro) c.1945G>C (p.Ala649Pro) c.1915G>C (p.Ala639Pro) c.1840G>C (p.Ala614Pro) c.1738G>C (p.Ala580Pro) c.1369G>C (p.Ala457Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112837812G= | CA1573480057 | APC | c.1883G= (n.1883G=) c.2272G= (p.Ala758=) c.*2224G= (n.*2224G=) c.2164G= (p.Ala722=) c.2218G= (p.Ala740=) c.571G= c.*1540G= (n.*1540G=) c.230+8840G= c.2248G= (p.Ala750=) c.2143G= (p.Ala715=) c.2134G= (p.Ala712=) c.2095G= (p.Ala699=) c.2041G= (p.Ala681=) c.1945G= (p.Ala649=) c.1915G= (p.Ala639=) c.1840G= (p.Ala614=) c.1738G= (p.Ala580=) c.1369G= (p.Ala457=) | |
| 5 | g.112837812G>T | CA16026194 | APC | c.1883G>T (n.1883G>T) c.2272G>T (p.Ala758Ser) c.*2224G>T (n.*2224G>T) c.2164G>T (p.Ala722Ser) c.2218G>T (p.Ala740Ser) c.571G>T c.*1540G>T (n.*1540G>T) c.230+8840G>T c.2248G>T (p.Ala750Ser) c.2143G>T (p.Ala715Ser) c.2134G>T (p.Ala712Ser) c.2095G>T (p.Ala699Ser) c.2041G>T (p.Ala681Ser) c.1945G>T (p.Ala649Ser) c.1915G>T (p.Ala639Ser) c.1840G>T (p.Ala614Ser) c.1738G>T (p.Ala580Ser) c.1369G>T (p.Ala457Ser) | |
| 5 | g.112837813C>A | CA16026195 | APC | c.1884C>A (n.1884C>A) c.2273C>A (p.Ala758Asp) c.*2225C>A (n.*2225C>A) c.2165C>A (p.Ala722Asp) c.2219C>A (p.Ala740Asp) c.572C>A c.*1541C>A (n.*1541C>A) c.230+8841C>A c.2249C>A (p.Ala750Asp) c.2144C>A (p.Ala715Asp) c.2135C>A (p.Ala712Asp) c.2096C>A (p.Ala699Asp) c.2042C>A (p.Ala681Asp) c.1946C>A (p.Ala649Asp) c.1916C>A (p.Ala639Asp) c.1841C>A (p.Ala614Asp) c.1739C>A (p.Ala580Asp) c.1370C>A (p.Ala457Asp) | dbSNP |
| 5 | g.112837813C>G | CA16026196 | APC | c.1884C>G (n.1884C>G) c.2273C>G (p.Ala758Gly) c.*2225C>G (n.*2225C>G) c.2165C>G (p.Ala722Gly) c.2219C>G (p.Ala740Gly) c.572C>G c.*1541C>G (n.*1541C>G) c.230+8841C>G c.2249C>G (p.Ala750Gly) c.2144C>G (p.Ala715Gly) c.2135C>G (p.Ala712Gly) c.2096C>G (p.Ala699Gly) c.2042C>G (p.Ala681Gly) c.1946C>G (p.Ala649Gly) c.1916C>G (p.Ala639Gly) c.1841C>G (p.Ala614Gly) c.1739C>G (p.Ala580Gly) c.1370C>G (p.Ala457Gly) | ClinVar dbSNP |
| 5 | g.112837813C>T | CA16026197 | APC | c.1884C>T (n.1884C>T) c.2273C>T (p.Ala758Val) c.*2225C>T (n.*2225C>T) c.2165C>T (p.Ala722Val) c.2219C>T (p.Ala740Val) c.572C>T c.*1541C>T (n.*1541C>T) c.230+8841C>T c.2249C>T (p.Ala750Val) c.2144C>T (p.Ala715Val) c.2135C>T (p.Ala712Val) c.2096C>T (p.Ala699Val) c.2042C>T (p.Ala681Val) c.1946C>T (p.Ala649Val) c.1916C>T (p.Ala639Val) c.1841C>T (p.Ala614Val) c.1739C>T (p.Ala580Val) c.1370C>T (p.Ala457Val) | ClinVar dbSNP |
| 5 | g.112837814del | CA2580072449 | APC | c.1885del (n.1885del) c.2274del (p.Asn759IlefsTer20) c.*2226del (n.*2226del) c.2166del (p.Asn723IlefsTer20) c.2220del (p.Asn741IlefsTer20) c.573del c.*1542del (n.*1542del) c.230+8842del c.2250del (p.Asn751IlefsTer20) c.2145del (p.Asn716IlefsTer20) c.2136del (p.Asn713IlefsTer20) c.2097del (p.Asn700IlefsTer20) c.2043del (p.Asn682IlefsTer20) c.1947del (p.Asn650IlefsTer20) c.1917del (p.Asn640IlefsTer20) c.1842del (p.Asn615IlefsTer20) c.1740del (p.Asn581IlefsTer20) c.1371del (p.Asn458IlefsTer20) | ClinVar |