| 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.112837902del | CA658760703 | APC | c.1973del (n.1973del) c.2362del (p.Ser788GlnfsTer7) c.*2314del (n.*2314del) c.2254del (p.Ser752GlnfsTer7) c.2308del (p.Ser770GlnfsTer7) c.661del c.*1630del (n.*1630del) c.230+8930del c.2338del (p.Ser780GlnfsTer7) c.2233del (p.Ser745GlnfsTer7) c.2224del (p.Ser742GlnfsTer7) c.2185del (p.Ser729GlnfsTer7) c.2131del (p.Ser711GlnfsTer7) c.2035del (p.Ser679GlnfsTer7) c.2005del (p.Ser669GlnfsTer7) c.1930del (p.Ser644GlnfsTer7) c.1828del (p.Ser610GlnfsTer7) c.1459del (p.Ser487GlnfsTer7) | ClinVar dbSNP |
| 5 | g.112837902T>A | CA16026391 | APC | c.1973T>A (n.1973T>A) c.2362T>A (p.Ser788Thr) c.*2314T>A (n.*2314T>A) c.2254T>A (p.Ser752Thr) c.2308T>A (p.Ser770Thr) c.661T>A c.*1630T>A (n.*1630T>A) c.230+8930T>A c.2338T>A (p.Ser780Thr) c.2233T>A (p.Ser745Thr) c.2224T>A (p.Ser742Thr) c.2185T>A (p.Ser729Thr) c.2131T>A (p.Ser711Thr) c.2035T>A (p.Ser679Thr) c.2005T>A (p.Ser669Thr) c.1930T>A (p.Ser644Thr) c.1828T>A (p.Ser610Thr) c.1459T>A (p.Ser487Thr) | dbSNP |
| 5 | g.112837902T>C | CA007358 | APC | c.1973T>C (n.1973T>C) c.2362T>C (p.Ser788Pro) c.*2314T>C (n.*2314T>C) c.2254T>C (p.Ser752Pro) c.2308T>C (p.Ser770Pro) c.661T>C c.*1630T>C (n.*1630T>C) c.230+8930T>C c.2338T>C (p.Ser780Pro) c.2233T>C (p.Ser745Pro) c.2224T>C (p.Ser742Pro) c.2185T>C (p.Ser729Pro) c.2131T>C (p.Ser711Pro) c.2035T>C (p.Ser679Pro) c.2005T>C (p.Ser669Pro) c.1930T>C (p.Ser644Pro) c.1828T>C (p.Ser610Pro) c.1459T>C (p.Ser487Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112837902T>G | CA16026392 | APC | c.1973T>G (n.1973T>G) c.2362T>G (p.Ser788Ala) c.*2314T>G (n.*2314T>G) c.2254T>G (p.Ser752Ala) c.2308T>G (p.Ser770Ala) c.661T>G c.*1630T>G (n.*1630T>G) c.230+8930T>G c.2338T>G (p.Ser780Ala) c.2233T>G (p.Ser745Ala) c.2224T>G (p.Ser742Ala) c.2185T>G (p.Ser729Ala) c.2131T>G (p.Ser711Ala) c.2035T>G (p.Ser679Ala) c.2005T>G (p.Ser669Ala) c.1930T>G (p.Ser644Ala) c.1828T>G (p.Ser610Ala) c.1459T>G (p.Ser487Ala) | dbSNP |
| 5 | g.112837902T= | CA1573480584 | APC | c.1973T= (n.1973T=) c.2362T= (p.Ser788=) c.*2314T= (n.*2314T=) c.2254T= (p.Ser752=) c.2308T= (p.Ser770=) c.661T= c.*1630T= (n.*1630T=) c.230+8930T= c.2338T= (p.Ser780=) c.2233T= (p.Ser745=) c.2224T= (p.Ser742=) c.2185T= (p.Ser729=) c.2131T= (p.Ser711=) c.2035T= (p.Ser679=) c.2005T= (p.Ser669=) c.1930T= (p.Ser644=) c.1828T= (p.Ser610=) c.1459T= (p.Ser487=) | |
| 5 | g.112837903del | CA658760706 | APC | c.1974del (n.1974del) c.2363del (p.Ser788Ter) c.*2315del (n.*2315del) c.2255del (p.Ser752Ter) c.2309del (p.Ser770Ter) c.662del c.*1631del (n.*1631del) c.230+8931del c.2339del (p.Ser780Ter) c.2234del (p.Ser745Ter) c.2225del (p.Ser742Ter) c.2186del (p.Ser729Ter) c.2132del (p.Ser711Ter) c.2036del (p.Ser679Ter) c.2006del (p.Ser669Ter) c.1931del (p.Ser644Ter) c.1829del (p.Ser610Ter) c.1460del (p.Ser487Ter) | |
| 5 | g.112837903C>A | CA16026393 | APC | c.1974C>A (n.1974C>A) c.2363C>A (p.Ser788Ter) c.*2315C>A (n.*2315C>A) c.2255C>A (p.Ser752Ter) c.2309C>A (p.Ser770Ter) c.662C>A c.*1631C>A (n.*1631C>A) c.230+8931C>A c.2339C>A (p.Ser780Ter) c.2234C>A (p.Ser745Ter) c.2225C>A (p.Ser742Ter) c.2186C>A (p.Ser729Ter) c.2132C>A (p.Ser711Ter) c.2036C>A (p.Ser679Ter) c.2006C>A (p.Ser669Ter) c.1931C>A (p.Ser644Ter) c.1829C>A (p.Ser610Ter) c.1460C>A (p.Ser487Ter) | ClinVar dbSNP |
| 5 | g.112837903C= | CA1573480592 | APC | c.1974C= (n.1974C=) c.2363C= (p.Ser788=) c.*2315C= (n.*2315C=) c.2255C= (p.Ser752=) c.2309C= (p.Ser770=) c.662C= c.*1631C= (n.*1631C=) c.230+8931C= c.2339C= (p.Ser780=) c.2234C= (p.Ser745=) c.2225C= (p.Ser742=) c.2186C= (p.Ser729=) c.2132C= (p.Ser711=) c.2036C= (p.Ser679=) c.2006C= (p.Ser669=) c.1931C= (p.Ser644=) c.1829C= (p.Ser610=) c.1460C= (p.Ser487=) | |
| 5 | g.112837903C>G | CA16026394 | APC | c.1974C>G (n.1974C>G) c.2363C>G (p.Ser788Ter) c.*2315C>G (n.*2315C>G) c.2255C>G (p.Ser752Ter) c.2309C>G (p.Ser770Ter) c.662C>G c.*1631C>G (n.*1631C>G) c.230+8931C>G c.2339C>G (p.Ser780Ter) c.2234C>G (p.Ser745Ter) c.2225C>G (p.Ser742Ter) c.2186C>G (p.Ser729Ter) c.2132C>G (p.Ser711Ter) c.2036C>G (p.Ser679Ter) c.2006C>G (p.Ser669Ter) c.1931C>G (p.Ser644Ter) c.1829C>G (p.Ser610Ter) c.1460C>G (p.Ser487Ter) | ClinVar dbSNP |
| 5 | g.112837903C>T | CA16026395 | APC | c.1974C>T (n.1974C>T) c.2363C>T (p.Ser788Leu) c.*2315C>T (n.*2315C>T) c.2255C>T (p.Ser752Leu) c.2309C>T (p.Ser770Leu) c.662C>T c.*1631C>T (n.*1631C>T) c.230+8931C>T c.2339C>T (p.Ser780Leu) c.2234C>T (p.Ser745Leu) c.2225C>T (p.Ser742Leu) c.2186C>T (p.Ser729Leu) c.2132C>T (p.Ser711Leu) c.2036C>T (p.Ser679Leu) c.2006C>T (p.Ser669Leu) c.1931C>T (p.Ser644Leu) c.1829C>T (p.Ser610Leu) c.1460C>T (p.Ser487Leu) | dbSNP |
| 5 | g.112837904A= | CA1573480597 | APC | c.1975A= (n.1975A=) c.2364A= (p.Ser788=) c.*2316A= (n.*2316A=) c.2256A= (p.Ser752=) c.2310A= (p.Ser770=) c.663A= c.*1632A= (n.*1632A=) c.230+8932A= c.2340A= (p.Ser780=) c.2235A= (p.Ser745=) c.2226A= (p.Ser742=) c.2187A= (p.Ser729=) c.2133A= (p.Ser711=) c.2037A= (p.Ser679=) c.2007A= (p.Ser669=) c.1932A= (p.Ser644=) c.1830A= (p.Ser610=) c.1461A= (p.Ser487=) | |
| 5 | g.112837904A>C | CA445963345 | APC | c.1975A>C (n.1975A>C) c.2364A>C (p.Ser788=) c.*2316A>C (n.*2316A>C) c.2256A>C (p.Ser752=) c.2310A>C (p.Ser770=) c.663A>C c.*1632A>C (n.*1632A>C) c.230+8932A>C c.2340A>C (p.Ser780=) c.2235A>C (p.Ser745=) c.2226A>C (p.Ser742=) c.2187A>C (p.Ser729=) c.2133A>C (p.Ser711=) c.2037A>C (p.Ser679=) c.2007A>C (p.Ser669=) c.1932A>C (p.Ser644=) c.1830A>C (p.Ser610=) c.1461A>C (p.Ser487=) | |
| 5 | g.112837904A>G | CA125167762 | APC | c.1975A>G (n.1975A>G) c.2364A>G (p.Ser788=) c.*2316A>G (n.*2316A>G) c.2256A>G (p.Ser752=) c.2310A>G (p.Ser770=) c.663A>G c.*1632A>G (n.*1632A>G) c.230+8932A>G c.2340A>G (p.Ser780=) c.2235A>G (p.Ser745=) c.2226A>G (p.Ser742=) c.2187A>G (p.Ser729=) c.2133A>G (p.Ser711=) c.2037A>G (p.Ser679=) c.2007A>G (p.Ser669=) c.1932A>G (p.Ser644=) c.1830A>G (p.Ser610=) c.1461A>G (p.Ser487=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112837904A>T | CA445963346 | APC | c.1975A>T (n.1975A>T) c.2364A>T (p.Ser788=) c.*2316A>T (n.*2316A>T) c.2256A>T (p.Ser752=) c.2310A>T (p.Ser770=) c.663A>T c.*1632A>T (n.*1632A>T) c.230+8932A>T c.2340A>T (p.Ser780=) c.2235A>T (p.Ser745=) c.2226A>T (p.Ser742=) c.2187A>T (p.Ser729=) c.2133A>T (p.Ser711=) c.2037A>T (p.Ser679=) c.2007A>T (p.Ser669=) c.1932A>T (p.Ser644=) c.1830A>T (p.Ser610=) c.1461A>T (p.Ser487=) | ClinVar dbSNP |
| 5 | g.112837905del | CA658760709 | APC | c.1976del (n.1976del) c.2365del (p.Glu789LysfsTer6) c.*2317del (n.*2317del) c.2257del (p.Glu753LysfsTer6) c.2311del (p.Glu771LysfsTer6) c.664del c.*1633del (n.*1633del) c.230+8933del c.2341del (p.Glu781LysfsTer6) c.2236del (p.Glu746LysfsTer6) c.2227del (p.Glu743LysfsTer6) c.2188del (p.Glu730LysfsTer6) c.2134del (p.Glu712LysfsTer6) c.2038del (p.Glu680LysfsTer6) c.2008del (p.Glu670LysfsTer6) c.1933del (p.Glu645LysfsTer6) c.1831del (p.Glu611LysfsTer6) c.1462del (p.Glu488LysfsTer6) | |
| 5 | g.112837905G>A | CA16026396 | APC | c.1976G>A (n.1976G>A) c.2365G>A (p.Glu789Lys) c.*2317G>A (n.*2317G>A) c.2257G>A (p.Glu753Lys) c.2311G>A (p.Glu771Lys) c.664G>A c.*1633G>A (n.*1633G>A) c.230+8933G>A c.2341G>A (p.Glu781Lys) c.2236G>A (p.Glu746Lys) c.2227G>A (p.Glu743Lys) c.2188G>A (p.Glu730Lys) c.2134G>A (p.Glu712Lys) c.2038G>A (p.Glu680Lys) c.2008G>A (p.Glu670Lys) c.1933G>A (p.Glu645Lys) c.1831G>A (p.Glu611Lys) c.1462G>A (p.Glu488Lys) | dbSNP |
| 5 | g.112837905G>C | CA16026397 | APC | c.1976G>C (n.1976G>C) c.2365G>C (p.Glu789Gln) c.*2317G>C (n.*2317G>C) c.2257G>C (p.Glu753Gln) c.2311G>C (p.Glu771Gln) c.664G>C c.*1633G>C (n.*1633G>C) c.230+8933G>C c.2341G>C (p.Glu781Gln) c.2236G>C (p.Glu746Gln) c.2227G>C (p.Glu743Gln) c.2188G>C (p.Glu730Gln) c.2134G>C (p.Glu712Gln) c.2038G>C (p.Glu680Gln) c.2008G>C (p.Glu670Gln) c.1933G>C (p.Glu645Gln) c.1831G>C (p.Glu611Gln) c.1462G>C (p.Glu488Gln) | dbSNP COSMIC |
| 5 | g.112837905G>T | CA16026398 | APC | c.1976G>T (n.1976G>T) c.2365G>T (p.Glu789Ter) c.*2317G>T (n.*2317G>T) c.2257G>T (p.Glu753Ter) c.2311G>T (p.Glu771Ter) c.664G>T c.*1633G>T (n.*1633G>T) c.230+8933G>T c.2341G>T (p.Glu781Ter) c.2236G>T (p.Glu746Ter) c.2227G>T (p.Glu743Ter) c.2188G>T (p.Glu730Ter) c.2134G>T (p.Glu712Ter) c.2038G>T (p.Glu680Ter) c.2008G>T (p.Glu670Ter) c.1933G>T (p.Glu645Ter) c.1831G>T (p.Glu611Ter) c.1462G>T (p.Glu488Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112837905_112837906delinsGA | CA1573480606 | APC | c.1976_1977delinsGA (n.1976_1977delinsGA) c.2365_2366delinsGA (p.Glu789=) c.*2317_*2318delinsGA (n.*2317_*2318delinsGA) c.2257_2258delinsGA (p.Glu753=) c.2311_2312delinsGA (p.Glu771=) c.664_665delinsGA c.*1633_*1634delinsGA (n.*1633_*1634delinsGA) c.230+8933_230+8934delinsGA c.2341_2342delinsGA (p.Glu781=) c.2236_2237delinsGA (p.Glu746=) c.2227_2228delinsGA (p.Glu743=) c.2188_2189delinsGA (p.Glu730=) c.2134_2135delinsGA (p.Glu712=) c.2038_2039delinsGA (p.Glu680=) c.2008_2009delinsGA (p.Glu670=) c.1933_1934delinsGA (p.Glu645=) c.1831_1832delinsGA (p.Glu611=) c.1462_1463delinsGA (p.Glu488=) | |
| 5 | g.112837906A>C | CA16026399 | APC | c.1977A>C (n.1977A>C) c.2366A>C (p.Glu789Ala) c.*2318A>C (n.*2318A>C) c.2258A>C (p.Glu753Ala) c.2312A>C (p.Glu771Ala) c.665A>C c.*1634A>C (n.*1634A>C) c.230+8934A>C c.2342A>C (p.Glu781Ala) c.2237A>C (p.Glu746Ala) c.2228A>C (p.Glu743Ala) c.2189A>C (p.Glu730Ala) c.2135A>C (p.Glu712Ala) c.2039A>C (p.Glu680Ala) c.2009A>C (p.Glu670Ala) c.1934A>C (p.Glu645Ala) c.1832A>C (p.Glu611Ala) c.1463A>C (p.Glu488Ala) | |
| 5 | g.112837906A>G | CA16026400 | APC | c.1977A>G (n.1977A>G) c.2366A>G (p.Glu789Gly) c.*2318A>G (n.*2318A>G) c.2258A>G (p.Glu753Gly) c.2312A>G (p.Glu771Gly) c.665A>G c.*1634A>G (n.*1634A>G) c.230+8934A>G c.2342A>G (p.Glu781Gly) c.2237A>G (p.Glu746Gly) c.2228A>G (p.Glu743Gly) c.2189A>G (p.Glu730Gly) c.2135A>G (p.Glu712Gly) c.2039A>G (p.Glu680Gly) c.2009A>G (p.Glu670Gly) c.1934A>G (p.Glu645Gly) c.1832A>G (p.Glu611Gly) c.1463A>G (p.Glu488Gly) | dbSNP COSMIC |
| 5 | g.112837906A>T | CA16026401 | APC | c.1977A>T (n.1977A>T) c.2366A>T (p.Glu789Val) c.*2318A>T (n.*2318A>T) c.2258A>T (p.Glu753Val) c.2312A>T (p.Glu771Val) c.665A>T c.*1634A>T (n.*1634A>T) c.230+8934A>T c.2342A>T (p.Glu781Val) c.2237A>T (p.Glu746Val) c.2228A>T (p.Glu743Val) c.2189A>T (p.Glu730Val) c.2135A>T (p.Glu712Val) c.2039A>T (p.Glu680Val) c.2009A>T (p.Glu670Val) c.1934A>T (p.Glu645Val) c.1832A>T (p.Glu611Val) c.1463A>T (p.Glu488Val) | dbSNP |
| 5 | g.112837908dup | CA658760711 | APC | c.1979dup (n.1979dup) c.2368dup (p.Thr790AsnfsTer3) c.*2320dup (n.*2320dup) c.2260dup (p.Thr754AsnfsTer3) c.2314dup (p.Thr772AsnfsTer3) c.667dup c.*1636dup (n.*1636dup) c.230+8936dup c.2344dup (p.Thr782AsnfsTer3) c.2239dup (p.Thr747AsnfsTer3) c.2230dup (p.Thr744AsnfsTer3) c.2191dup (p.Thr731AsnfsTer3) c.2137dup (p.Thr713AsnfsTer3) c.2041dup (p.Thr681AsnfsTer3) c.2011dup (p.Thr671AsnfsTer3) c.1936dup (p.Thr646AsnfsTer3) c.1834dup (p.Thr612AsnfsTer3) c.1465dup (p.Thr489AsnfsTer3) | |
| 5 | g.112837908del | CA10582296 | APC | c.1979del (n.1979del) c.2368del (p.Thr790LeufsTer5) c.*2320del (n.*2320del) c.2260del (p.Thr754LeufsTer5) c.2314del (p.Thr772LeufsTer5) c.667del c.*1636del (n.*1636del) c.230+8936del c.2344del (p.Thr782LeufsTer5) c.2239del (p.Thr747LeufsTer5) c.2230del (p.Thr744LeufsTer5) c.2191del (p.Thr731LeufsTer5) c.2137del (p.Thr713LeufsTer5) c.2041del (p.Thr681LeufsTer5) c.2011del (p.Thr671LeufsTer5) c.1936del (p.Thr646LeufsTer5) c.1834del (p.Thr612LeufsTer5) c.1465del (p.Thr489LeufsTer5) | ClinVar dbSNP |
| 5 | g.112837907A>C | CA16026402 | APC | c.1978A>C (n.1978A>C) c.2367A>C (p.Glu789Asp) c.*2319A>C (n.*2319A>C) c.2259A>C (p.Glu753Asp) c.2313A>C (p.Glu771Asp) c.666A>C c.*1635A>C (n.*1635A>C) c.230+8935A>C c.2343A>C (p.Glu781Asp) c.2238A>C (p.Glu746Asp) c.2229A>C (p.Glu743Asp) c.2190A>C (p.Glu730Asp) c.2136A>C (p.Glu712Asp) c.2040A>C (p.Glu680Asp) c.2010A>C (p.Glu670Asp) c.1935A>C (p.Glu645Asp) c.1833A>C (p.Glu611Asp) c.1464A>C (p.Glu488Asp) | |
| 5 | g.112837907A>G | CA445963348 | APC | c.1978A>G (n.1978A>G) c.2367A>G (p.Glu789=) c.*2319A>G (n.*2319A>G) c.2259A>G (p.Glu753=) c.2313A>G (p.Glu771=) c.666A>G c.*1635A>G (n.*1635A>G) c.230+8935A>G c.2343A>G (p.Glu781=) c.2238A>G (p.Glu746=) c.2229A>G (p.Glu743=) c.2190A>G (p.Glu730=) c.2136A>G (p.Glu712=) c.2040A>G (p.Glu680=) c.2010A>G (p.Glu670=) c.1935A>G (p.Glu645=) c.1833A>G (p.Glu611=) c.1464A>G (p.Glu488=) | dbSNP |
| 5 | g.112837907A>T | CA16026403 | APC | c.1978A>T (n.1978A>T) c.2367A>T (p.Glu789Asp) c.*2319A>T (n.*2319A>T) c.2259A>T (p.Glu753Asp) c.2313A>T (p.Glu771Asp) c.666A>T c.*1635A>T (n.*1635A>T) c.230+8935A>T c.2343A>T (p.Glu781Asp) c.2238A>T (p.Glu746Asp) c.2229A>T (p.Glu743Asp) c.2190A>T (p.Glu730Asp) c.2136A>T (p.Glu712Asp) c.2040A>T (p.Glu680Asp) c.2010A>T (p.Glu670Asp) c.1935A>T (p.Glu645Asp) c.1833A>T (p.Glu611Asp) c.1464A>T (p.Glu488Asp) | dbSNP |
| 5 | g.112837908A>C | CA16026404 | APC | c.1979A>C (n.1979A>C) c.2368A>C (p.Thr790Pro) c.*2320A>C (n.*2320A>C) c.2260A>C (p.Thr754Pro) c.2314A>C (p.Thr772Pro) c.667A>C c.*1636A>C (n.*1636A>C) c.230+8936A>C c.2344A>C (p.Thr782Pro) c.2239A>C (p.Thr747Pro) c.2230A>C (p.Thr744Pro) c.2191A>C (p.Thr731Pro) c.2137A>C (p.Thr713Pro) c.2041A>C (p.Thr681Pro) c.2011A>C (p.Thr671Pro) c.1936A>C (p.Thr646Pro) c.1834A>C (p.Thr612Pro) c.1465A>C (p.Thr489Pro) | dbSNP |
| 5 | g.112837908A>G | CA16026405 | APC | c.1979A>G (n.1979A>G) c.2368A>G (p.Thr790Ala) c.*2320A>G (n.*2320A>G) c.2260A>G (p.Thr754Ala) c.2314A>G (p.Thr772Ala) c.667A>G c.*1636A>G (n.*1636A>G) c.230+8936A>G c.2344A>G (p.Thr782Ala) c.2239A>G (p.Thr747Ala) c.2230A>G (p.Thr744Ala) c.2191A>G (p.Thr731Ala) c.2137A>G (p.Thr713Ala) c.2041A>G (p.Thr681Ala) c.2011A>G (p.Thr671Ala) c.1936A>G (p.Thr646Ala) c.1834A>G (p.Thr612Ala) c.1465A>G (p.Thr489Ala) | |
| 5 | g.112837908A>T | CA16026406 | APC | c.1979A>T (n.1979A>T) c.2368A>T (p.Thr790Ser) c.*2320A>T (n.*2320A>T) c.2260A>T (p.Thr754Ser) c.2314A>T (p.Thr772Ser) c.667A>T c.*1636A>T (n.*1636A>T) c.230+8936A>T c.2344A>T (p.Thr782Ser) c.2239A>T (p.Thr747Ser) c.2230A>T (p.Thr744Ser) c.2191A>T (p.Thr731Ser) c.2137A>T (p.Thr713Ser) c.2041A>T (p.Thr681Ser) c.2011A>T (p.Thr671Ser) c.1936A>T (p.Thr646Ser) c.1834A>T (p.Thr612Ser) c.1465A>T (p.Thr489Ser) | dbSNP |
| 5 | g.112837909del | CA645562835 | APC | c.1980del (n.1980del) c.2369del (p.Thr790IlefsTer5) c.*2321del (n.*2321del) c.2261del (p.Thr754IlefsTer5) c.2315del (p.Thr772IlefsTer5) c.668del c.*1637del (n.*1637del) c.230+8937del c.2345del (p.Thr782IlefsTer5) c.2240del (p.Thr747IlefsTer5) c.2231del (p.Thr744IlefsTer5) c.2192del (p.Thr731IlefsTer5) c.2138del (p.Thr713IlefsTer5) c.2042del (p.Thr681IlefsTer5) c.2012del (p.Thr671IlefsTer5) c.1937del (p.Thr646IlefsTer5) c.1835del (p.Thr612IlefsTer5) c.1466del (p.Thr489IlefsTer5) | ClinVar COSMIC |
| 5 | g.112837909C>A | CA16026407 | APC | c.1980C>A (n.1980C>A) c.2369C>A (p.Thr790Asn) c.*2321C>A (n.*2321C>A) c.2261C>A (p.Thr754Asn) c.2315C>A (p.Thr772Asn) c.668C>A c.*1637C>A (n.*1637C>A) c.230+8937C>A c.2345C>A (p.Thr782Asn) c.2240C>A (p.Thr747Asn) c.2231C>A (p.Thr744Asn) c.2192C>A (p.Thr731Asn) c.2138C>A (p.Thr713Asn) c.2042C>A (p.Thr681Asn) c.2012C>A (p.Thr671Asn) c.1937C>A (p.Thr646Asn) c.1835C>A (p.Thr612Asn) c.1466C>A (p.Thr489Asn) | |
| 5 | g.112837909C>G | CA16026408 | APC | c.1980C>G (n.1980C>G) c.2369C>G (p.Thr790Ser) c.*2321C>G (n.*2321C>G) c.2261C>G (p.Thr754Ser) c.2315C>G (p.Thr772Ser) c.668C>G c.*1637C>G (n.*1637C>G) c.230+8937C>G c.2345C>G (p.Thr782Ser) c.2240C>G (p.Thr747Ser) c.2231C>G (p.Thr744Ser) c.2192C>G (p.Thr731Ser) c.2138C>G (p.Thr713Ser) c.2042C>G (p.Thr681Ser) c.2012C>G (p.Thr671Ser) c.1937C>G (p.Thr646Ser) c.1835C>G (p.Thr612Ser) c.1466C>G (p.Thr489Ser) | |
| 5 | g.112837909C>T | CA16026409 | APC | c.1980C>T (n.1980C>T) c.2369C>T (p.Thr790Ile) c.*2321C>T (n.*2321C>T) c.2261C>T (p.Thr754Ile) c.2315C>T (p.Thr772Ile) c.668C>T c.*1637C>T (n.*1637C>T) c.230+8937C>T c.2345C>T (p.Thr782Ile) c.2240C>T (p.Thr747Ile) c.2231C>T (p.Thr744Ile) c.2192C>T (p.Thr731Ile) c.2138C>T (p.Thr713Ile) c.2042C>T (p.Thr681Ile) c.2012C>T (p.Thr671Ile) c.1937C>T (p.Thr646Ile) c.1835C>T (p.Thr612Ile) c.1466C>T (p.Thr489Ile) | |
| 5 | g.112837910T>A | CA445963350 | APC | c.1981T>A (n.1981T>A) c.2370T>A (p.Thr790=) c.*2322T>A (n.*2322T>A) c.2262T>A (p.Thr754=) c.2316T>A (p.Thr772=) c.669T>A c.*1638T>A (n.*1638T>A) c.230+8938T>A c.2346T>A (p.Thr782=) c.2241T>A (p.Thr747=) c.2232T>A (p.Thr744=) c.2193T>A (p.Thr731=) c.2139T>A (p.Thr713=) c.2043T>A (p.Thr681=) c.2013T>A (p.Thr671=) c.1938T>A (p.Thr646=) c.1836T>A (p.Thr612=) c.1467T>A (p.Thr489=) | dbSNP |
| 5 | g.112837910T>C | CA445963353 | APC | c.1981T>C (n.1981T>C) c.2370T>C (p.Thr790=) c.*2322T>C (n.*2322T>C) c.2262T>C (p.Thr754=) c.2316T>C (p.Thr772=) c.669T>C c.*1638T>C (n.*1638T>C) c.230+8938T>C c.2346T>C (p.Thr782=) c.2241T>C (p.Thr747=) c.2232T>C (p.Thr744=) c.2193T>C (p.Thr731=) c.2139T>C (p.Thr713=) c.2043T>C (p.Thr681=) c.2013T>C (p.Thr671=) c.1938T>C (p.Thr646=) c.1836T>C (p.Thr612=) c.1467T>C (p.Thr489=) | dbSNP |
| 5 | g.112837910T>G | CA445963355 | APC | c.1981T>G (n.1981T>G) c.2370T>G (p.Thr790=) c.*2322T>G (n.*2322T>G) c.2262T>G (p.Thr754=) c.2316T>G (p.Thr772=) c.669T>G c.*1638T>G (n.*1638T>G) c.230+8938T>G c.2346T>G (p.Thr782=) c.2241T>G (p.Thr747=) c.2232T>G (p.Thr744=) c.2193T>G (p.Thr731=) c.2139T>G (p.Thr713=) c.2043T>G (p.Thr681=) c.2013T>G (p.Thr671=) c.1938T>G (p.Thr646=) c.1836T>G (p.Thr612=) c.1467T>G (p.Thr489=) | ClinVar |
| 5 | g.112837913dup | CA658760712 | APC | c.1984dup (n.1984dup) c.2373dup (p.Asp792Ter) c.*2325dup (n.*2325dup) c.2265dup (p.Asp756Ter) c.2319dup (p.Asp774Ter) c.672dup c.*1641dup (n.*1641dup) c.230+8941dup c.2349dup (p.Asp784Ter) c.2244dup (p.Asp749Ter) c.2235dup (p.Asp746Ter) c.2196dup (p.Asp733Ter) c.2142dup (p.Asp715Ter) c.2046dup (p.Asp683Ter) c.2016dup (p.Asp673Ter) c.1941dup (p.Asp648Ter) c.1839dup (p.Asp614Ter) c.1470dup (p.Asp491Ter) | |
| 5 | g.112837913del | CA445963356 | APC | c.1984del (n.1984del) c.2373del (p.Phe791LeufsTer4) c.*2325del (n.*2325del) c.2265del (p.Phe755LeufsTer4) c.2319del (p.Phe773LeufsTer4) c.672del c.*1641del (n.*1641del) c.230+8941del c.2349del (p.Phe783LeufsTer4) c.2244del (p.Phe748LeufsTer4) c.2235del (p.Phe745LeufsTer4) c.2196del (p.Phe732LeufsTer4) c.2142del (p.Phe714LeufsTer4) c.2046del (p.Phe682LeufsTer4) c.2016del (p.Phe672LeufsTer4) c.1941del (p.Phe647LeufsTer4) c.1839del (p.Phe613LeufsTer4) c.1470del (p.Phe490LeufsTer4) | ClinVar dbSNP COSMIC |
| 5 | g.112837912_112837913del | CA645562836 | APC | c.1983_1984del (n.1983_1984del) c.2372_2373del (p.Phe791Ter) c.*2324_*2325del (n.*2324_*2325del) c.2264_2265del (p.Phe755Ter) c.2318_2319del (p.Phe773Ter) c.671_672del c.*1640_*1641del (n.*1640_*1641del) c.230+8940_230+8941del c.2348_2349del (p.Phe783Ter) c.2243_2244del (p.Phe748Ter) c.2234_2235del (p.Phe745Ter) c.2195_2196del (p.Phe732Ter) c.2141_2142del (p.Phe714Ter) c.2045_2046del (p.Phe682Ter) c.2015_2016del (p.Phe672Ter) c.1940_1941del (p.Phe647Ter) c.1838_1839del (p.Phe613Ter) c.1469_1470del (p.Phe490Ter) | COSMIC |
| 5 | g.112837911T>A | CA16026410 | APC | c.1982T>A (n.1982T>A) c.2371T>A (p.Phe791Ile) c.*2323T>A (n.*2323T>A) c.2263T>A (p.Phe755Ile) c.2317T>A (p.Phe773Ile) c.670T>A c.*1639T>A (n.*1639T>A) c.230+8939T>A c.2347T>A (p.Phe783Ile) c.2242T>A (p.Phe748Ile) c.2233T>A (p.Phe745Ile) c.2194T>A (p.Phe732Ile) c.2140T>A (p.Phe714Ile) c.2044T>A (p.Phe682Ile) c.2014T>A (p.Phe672Ile) c.1939T>A (p.Phe647Ile) c.1837T>A (p.Phe613Ile) c.1468T>A (p.Phe490Ile) | dbSNP |
| 5 | g.112837911T>C | CA16026411 | APC | c.1982T>C (n.1982T>C) c.2371T>C (p.Phe791Leu) c.*2323T>C (n.*2323T>C) c.2263T>C (p.Phe755Leu) c.2317T>C (p.Phe773Leu) c.670T>C c.*1639T>C (n.*1639T>C) c.230+8939T>C c.2347T>C (p.Phe783Leu) c.2242T>C (p.Phe748Leu) c.2233T>C (p.Phe745Leu) c.2194T>C (p.Phe732Leu) c.2140T>C (p.Phe714Leu) c.2044T>C (p.Phe682Leu) c.2014T>C (p.Phe672Leu) c.1939T>C (p.Phe647Leu) c.1837T>C (p.Phe613Leu) c.1468T>C (p.Phe490Leu) | |
| 5 | g.112837911T>G | CA16026412 | APC | c.1982T>G (n.1982T>G) c.2371T>G (p.Phe791Val) c.*2323T>G (n.*2323T>G) c.2263T>G (p.Phe755Val) c.2317T>G (p.Phe773Val) c.670T>G c.*1639T>G (n.*1639T>G) c.230+8939T>G c.2347T>G (p.Phe783Val) c.2242T>G (p.Phe748Val) c.2233T>G (p.Phe745Val) c.2194T>G (p.Phe732Val) c.2140T>G (p.Phe714Val) c.2044T>G (p.Phe682Val) c.2014T>G (p.Phe672Val) c.1939T>G (p.Phe647Val) c.1837T>G (p.Phe613Val) c.1468T>G (p.Phe490Val) | |
| 5 | g.112837912T>A | CA16026413 | APC | c.1983T>A (n.1983T>A) c.2372T>A (p.Phe791Tyr) c.*2324T>A (n.*2324T>A) c.2264T>A (p.Phe755Tyr) c.2318T>A (p.Phe773Tyr) c.671T>A c.*1640T>A (n.*1640T>A) c.230+8940T>A c.2348T>A (p.Phe783Tyr) c.2243T>A (p.Phe748Tyr) c.2234T>A (p.Phe745Tyr) c.2195T>A (p.Phe732Tyr) c.2141T>A (p.Phe714Tyr) c.2045T>A (p.Phe682Tyr) c.2015T>A (p.Phe672Tyr) c.1940T>A (p.Phe647Tyr) c.1838T>A (p.Phe613Tyr) c.1469T>A (p.Phe490Tyr) | dbSNP |
| 5 | g.112837912T>C | CA16026414 | APC | c.1983T>C (n.1983T>C) c.2372T>C (p.Phe791Ser) c.*2324T>C (n.*2324T>C) c.2264T>C (p.Phe755Ser) c.2318T>C (p.Phe773Ser) c.671T>C c.*1640T>C (n.*1640T>C) c.230+8940T>C c.2348T>C (p.Phe783Ser) c.2243T>C (p.Phe748Ser) c.2234T>C (p.Phe745Ser) c.2195T>C (p.Phe732Ser) c.2141T>C (p.Phe714Ser) c.2045T>C (p.Phe682Ser) c.2015T>C (p.Phe672Ser) c.1940T>C (p.Phe647Ser) c.1838T>C (p.Phe613Ser) c.1469T>C (p.Phe490Ser) | ClinVar dbSNP |
| 5 | g.112837912T>G | CA16026415 | APC | c.1983T>G (n.1983T>G) c.2372T>G (p.Phe791Cys) c.*2324T>G (n.*2324T>G) c.2264T>G (p.Phe755Cys) c.2318T>G (p.Phe773Cys) c.671T>G c.*1640T>G (n.*1640T>G) c.230+8940T>G c.2348T>G (p.Phe783Cys) c.2243T>G (p.Phe748Cys) c.2234T>G (p.Phe745Cys) c.2195T>G (p.Phe732Cys) c.2141T>G (p.Phe714Cys) c.2045T>G (p.Phe682Cys) c.2015T>G (p.Phe672Cys) c.1940T>G (p.Phe647Cys) c.1838T>G (p.Phe613Cys) c.1469T>G (p.Phe490Cys) | |
| 5 | g.112837913T>A | CA16026416 | APC | c.1984T>A (n.1984T>A) c.2373T>A (p.Phe791Leu) c.*2325T>A (n.*2325T>A) c.2265T>A (p.Phe755Leu) c.2319T>A (p.Phe773Leu) c.672T>A c.*1641T>A (n.*1641T>A) c.230+8941T>A c.2349T>A (p.Phe783Leu) c.2244T>A (p.Phe748Leu) c.2235T>A (p.Phe745Leu) c.2196T>A (p.Phe732Leu) c.2142T>A (p.Phe714Leu) c.2046T>A (p.Phe682Leu) c.2016T>A (p.Phe672Leu) c.1941T>A (p.Phe647Leu) c.1839T>A (p.Phe613Leu) c.1470T>A (p.Phe490Leu) | |
| 5 | g.112837913T>C | CA445963357 | APC | c.1984T>C (n.1984T>C) c.2373T>C (p.Phe791=) c.*2325T>C (n.*2325T>C) c.2265T>C (p.Phe755=) c.2319T>C (p.Phe773=) c.672T>C c.*1641T>C (n.*1641T>C) c.230+8941T>C c.2349T>C (p.Phe783=) c.2244T>C (p.Phe748=) c.2235T>C (p.Phe745=) c.2196T>C (p.Phe732=) c.2142T>C (p.Phe714=) c.2046T>C (p.Phe682=) c.2016T>C (p.Phe672=) c.1941T>C (p.Phe647=) c.1839T>C (p.Phe613=) c.1470T>C (p.Phe490=) |