| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112818663_112819534delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA | CA2580072438 | APC | c.934-303_1312+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA n.990-303_1368+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.*940-303_*1318+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.880-303_1258+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.*256-303_*634+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.964-303_1342+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.859-303_1237+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.850-303_1228+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.757-303_1135+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.964-606_1039+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.934-606_1009+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.859-606_934+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.757-606_832+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA c.85-303_463+190delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGA | ClinVar |
| 5 | g.112819078_112819172del | CA2499217447 | APC | c.1046_1140del (p.Gln349ArgfsTer16) n.1102_1196del c.*1052_*1146del (n.*1052_*1146del) c.992_1086del (p.Gln331ArgfsTer16) c.*368_*462del (n.*368_*462del) c.1076_1170del (p.Gln359ArgfsTer16) c.971_1065del (p.Gln324ArgfsTer16) c.962_1056del (p.Gln321ArgfsTer16) c.869_963del (p.Gln290ArgfsTer16) c.964-191_964-97del (n.964-191_964-97del) c.934-191_934-97del (n.934-191_934-97del) c.859-191_859-97del (n.859-191_859-97del) c.757-191_757-97del (n.757-191_757-97del) c.197_291del (p.Gln66ArgfsTer16) | ClinVar dbSNP |
| 5 | g.112819078_112819172delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG | CA1573491811 | APC | c.1046_1140delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln349=) n.1102_1196delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG c.*1052_*1146delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (n.*1052_*1146delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG) c.992_1086delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln331=) c.*368_*462delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (n.*368_*462delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG) c.1076_1170delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln359=) c.971_1065delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln324=) c.962_1056delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln321=) c.869_963delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln290=) c.964-191_964-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (n.964-191_964-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG) c.934-191_934-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (n.934-191_934-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG) c.859-191_859-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (n.859-191_859-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG) c.757-191_757-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (n.757-191_757-97delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG) c.197_291delinsAGTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGG (p.Gln66=) | |
| 5 | g.112819080_112819173del | CA645372772 | APC | c.1048_1141del (p.Ser350ProfsTer?) n.1104_1197del c.*1054_*1147del (n.*1054_*1147del) c.994_1087del (p.Ser332ProfsTer?) c.*370_*463del (n.*370_*463del) c.1078_1171del (p.Ser360ProfsTer?) c.973_1066del (p.Ser325ProfsTer?) c.964_1057del (p.Ser322ProfsTer?) c.871_964del (p.Ser291ProfsTer?) c.964-189_964-96del (n.964-189_964-96del) c.934-189_934-96del (n.934-189_934-96del) c.859-189_859-96del (n.859-189_859-96del) c.757-189_757-96del (n.757-189_757-96del) c.199_292del (p.Ser67ProfsTer?) | ClinVar dbSNP |
| 5 | g.112819153_112819175del | CA658760530 | APC | c.1121_1143del (p.Arg374GlnfsTer15) n.1177_1199del c.*1127_*1149del (n.*1127_*1149del) c.1067_1089del (p.Arg356GlnfsTer15) c.*443_*465del (n.*443_*465del) c.1151_1173del (p.Arg384GlnfsTer15) c.1046_1068del (p.Arg349GlnfsTer15) c.1037_1059del (p.Arg346GlnfsTer15) c.944_966del (p.Arg315GlnfsTer15) c.964-116_964-94del (n.964-116_964-94del) c.934-116_934-94del (n.934-116_934-94del) c.859-116_859-94del (n.859-116_859-94del) c.757-116_757-94del (n.757-116_757-94del) c.272_294del (p.Arg91GlnfsTer15) | |
| 5 | g.112819171_112819186dup | CA2674866797 | APC | c.1139_1154dup (p.Ala386GlyfsTer16) n.1195_1210dup c.*1145_*1160dup (n.*1145_*1160dup) c.1085_1100dup (p.Ala368GlyfsTer16) c.*461_*476dup (n.*461_*476dup) c.1169_1184dup (p.Ala396GlyfsTer16) c.1064_1079dup (p.Ala361GlyfsTer16) c.1055_1070dup (p.Ala358GlyfsTer16) c.962_977dup (p.Ala327GlyfsTer16) c.964-98_964-83dup (n.964-98_964-83dup) c.934-98_934-83dup (n.934-98_934-83dup) c.859-98_859-83dup (n.859-98_859-83dup) c.757-98_757-83dup (n.757-98_757-83dup) c.290_305dup (p.Ala103GlyfsTer16) | gnomAD v4 |
| 5 | g.112819173del | CA658655912 | APC | c.1141del (p.Ala381ProfsTer?) n.1197del c.*1147del (n.*1147del) c.1087del (p.Ala363ProfsTer?) c.*463del (n.*463del) c.1171del (p.Ala391ProfsTer?) c.1066del (p.Ala356ProfsTer?) c.1057del (p.Ala353ProfsTer?) c.964del (p.Ala322ProfsTer?) c.964-96del (n.964-96del) c.934-96del (n.934-96del) c.859-96del (n.859-96del) c.757-96del (n.757-96del) c.292del (p.Ala98ProfsTer?) | ClinVar dbSNP |
| 5 | g.112819178_112819183dup | CA1573492316 | APC | c.1146_1151dup (p.Ala383_Ser384insArgAla) n.1202_1207dup c.*1152_*1157dup (n.*1152_*1157dup) c.1092_1097dup (p.Ala365_Ser366insArgAla) c.*468_*473dup (n.*468_*473dup) c.1176_1181dup (p.Ala393_Ser394insArgAla) c.1071_1076dup (p.Ala358_Ser359insArgAla) c.1062_1067dup (p.Ala355_Ser356insArgAla) c.969_974dup (p.Ala324_Ser325insArgAla) c.964-91_964-86dup (n.964-91_964-86dup) c.934-91_934-86dup (n.934-91_934-86dup) c.859-91_859-86dup (n.859-91_859-86dup) c.757-91_757-86dup (n.757-91_757-86dup) c.297_302dup (p.Ala100_Ser101insArgAla) | ClinVar dbSNP |
| 5 | g.112819172G>A | CA445960302 | APC | c.1140G>A (p.Arg380=) n.1196G>A c.*1146G>A (n.*1146G>A) c.1086G>A (p.Arg362=) c.*462G>A (n.*462G>A) c.1170G>A (p.Arg390=) c.1065G>A (p.Arg355=) c.1056G>A (p.Arg352=) c.963G>A (p.Arg321=) c.964-97G>A (n.964-97G>A) c.934-97G>A (n.934-97G>A) c.859-97G>A (n.859-97G>A) c.757-97G>A (n.757-97G>A) c.291G>A (p.Arg97=) | ClinVar dbSNP |
| 5 | g.112819172G>C | CA445960303 | APC | c.1140G>C (p.Arg380=) n.1196G>C c.*1146G>C (n.*1146G>C) c.1086G>C (p.Arg362=) c.*462G>C (n.*462G>C) c.1170G>C (p.Arg390=) c.1065G>C (p.Arg355=) c.1056G>C (p.Arg352=) c.963G>C (p.Arg321=) c.964-97G>C (n.964-97G>C) c.934-97G>C (n.934-97G>C) c.859-97G>C (n.859-97G>C) c.757-97G>C (n.757-97G>C) c.291G>C (p.Arg97=) | dbSNP |
| 5 | g.112819172G>T | CA445960304 | APC | c.1140G>T (p.Arg380=) n.1196G>T c.*1146G>T (n.*1146G>T) c.1086G>T (p.Arg362=) c.*462G>T (n.*462G>T) c.1170G>T (p.Arg390=) c.1065G>T (p.Arg355=) c.1056G>T (p.Arg352=) c.963G>T (p.Arg321=) c.964-97G>T (n.964-97G>T) c.934-97G>T (n.934-97G>T) c.859-97G>T (n.859-97G>T) c.757-97G>T (n.757-97G>T) c.291G>T (p.Arg97=) | dbSNP |
| 5 | g.112819173G>A | CA16023804 | APC | c.1141G>A (p.Ala381Thr) n.1197G>A c.*1147G>A (n.*1147G>A) c.1087G>A (p.Ala363Thr) c.*463G>A (n.*463G>A) c.1171G>A (p.Ala391Thr) c.1066G>A (p.Ala356Thr) c.1057G>A (p.Ala353Thr) c.964G>A (p.Ala322Thr) c.964-96G>A (n.964-96G>A) c.934-96G>A (n.934-96G>A) c.859-96G>A (n.859-96G>A) c.757-96G>A (n.757-96G>A) c.292G>A (p.Ala98Thr) | |
| 5 | g.112819173G>C | CA16023805 | APC | c.1141G>C (p.Ala381Pro) n.1197G>C c.*1147G>C (n.*1147G>C) c.1087G>C (p.Ala363Pro) c.*463G>C (n.*463G>C) c.1171G>C (p.Ala391Pro) c.1066G>C (p.Ala356Pro) c.1057G>C (p.Ala353Pro) c.964G>C (p.Ala322Pro) c.964-96G>C (n.964-96G>C) c.934-96G>C (n.934-96G>C) c.859-96G>C (n.859-96G>C) c.757-96G>C (n.757-96G>C) c.292G>C (p.Ala98Pro) | |
| 5 | g.112819173G= | CA1573492332 | APC | c.1141G= (p.Ala381=) n.1197G= c.*1147G= (n.*1147G=) c.1087G= (p.Ala363=) c.*463G= (n.*463G=) c.1171G= (p.Ala391=) c.1066G= (p.Ala356=) c.1057G= (p.Ala353=) c.964G= (p.Ala322=) c.964-96G= (n.964-96G=) c.934-96G= (n.934-96G=) c.859-96G= (n.859-96G=) c.757-96G= (n.757-96G=) c.292G= (p.Ala98=) | |
| 5 | g.112819173G>T | CA16023806 | APC | c.1141G>T (p.Ala381Ser) n.1197G>T c.*1147G>T (n.*1147G>T) c.1087G>T (p.Ala363Ser) c.*463G>T (n.*463G>T) c.1171G>T (p.Ala391Ser) c.1066G>T (p.Ala356Ser) c.1057G>T (p.Ala353Ser) c.964G>T (p.Ala322Ser) c.964-96G>T (n.964-96G>T) c.934-96G>T (n.934-96G>T) c.859-96G>T (n.859-96G>T) c.757-96G>T (n.757-96G>T) c.292G>T (p.Ala98Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112819174C>A | CA16023807 | APC | c.1142C>A (p.Ala381Asp) n.1198C>A c.*1148C>A (n.*1148C>A) c.1088C>A (p.Ala363Asp) c.*464C>A (n.*464C>A) c.1172C>A (p.Ala391Asp) c.1067C>A (p.Ala356Asp) c.1058C>A (p.Ala353Asp) c.965C>A (p.Ala322Asp) c.964-95C>A (n.964-95C>A) c.934-95C>A (n.934-95C>A) c.859-95C>A (n.859-95C>A) c.757-95C>A (n.757-95C>A) c.293C>A (p.Ala98Asp) | dbSNP |
| 5 | g.112819174C= | CA1573492341 | APC | c.1142C= (p.Ala381=) n.1198C= c.*1148C= (n.*1148C=) c.1088C= (p.Ala363=) c.*464C= (n.*464C=) c.1172C= (p.Ala391=) c.1067C= (p.Ala356=) c.1058C= (p.Ala353=) c.965C= (p.Ala322=) c.964-95C= (n.964-95C=) c.934-95C= (n.934-95C=) c.859-95C= (n.859-95C=) c.757-95C= (n.757-95C=) c.293C= (p.Ala98=) | |
| 5 | g.112819174C>G | CA16023808 | APC | c.1142C>G (p.Ala381Gly) n.1198C>G c.*1148C>G (n.*1148C>G) c.1088C>G (p.Ala363Gly) c.*464C>G (n.*464C>G) c.1172C>G (p.Ala391Gly) c.1067C>G (p.Ala356Gly) c.1058C>G (p.Ala353Gly) c.965C>G (p.Ala322Gly) c.964-95C>G (n.964-95C>G) c.934-95C>G (n.934-95C>G) c.859-95C>G (n.859-95C>G) c.757-95C>G (n.757-95C>G) c.293C>G (p.Ala98Gly) | dbSNP |
| 5 | g.112819174C>T | CA16023809 | APC | c.1142C>T (p.Ala381Val) n.1198C>T c.*1148C>T (n.*1148C>T) c.1088C>T (p.Ala363Val) c.*464C>T (n.*464C>T) c.1172C>T (p.Ala391Val) c.1067C>T (p.Ala356Val) c.1058C>T (p.Ala353Val) c.965C>T (p.Ala322Val) c.964-95C>T (n.964-95C>T) c.934-95C>T (n.934-95C>T) c.859-95C>T (n.859-95C>T) c.757-95C>T (n.757-95C>T) c.293C>T (p.Ala98Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112819175del | CA2582341386 | APC | c.1143del (p.Arg382GlyfsTer?) n.1199del c.*1149del (n.*1149del) c.1089del (p.Arg364GlyfsTer?) c.*465del (n.*465del) c.1173del (p.Arg392GlyfsTer?) c.1068del (p.Arg357GlyfsTer?) c.1059del (p.Arg354GlyfsTer?) c.966del (p.Arg323GlyfsTer?) c.964-94del (n.964-94del) c.934-94del (n.934-94del) c.859-94del (n.859-94del) c.757-94del (n.757-94del) c.294del (p.Arg99GlyfsTer?) | ClinVar |
| 5 | g.112819174_112819175insG | CA645562773 | APC | c.1142_1143insG (p.Arg382GlnfsTer15) n.1198_1199insG c.*1148_*1149insG (n.*1148_*1149insG) c.1088_1089insG (p.Arg364GlnfsTer15) c.*464_*465insG (n.*464_*465insG) c.1172_1173insG (p.Arg392GlnfsTer15) c.1067_1068insG (p.Arg357GlnfsTer15) c.1058_1059insG (p.Arg354GlnfsTer15) c.965_966insG (p.Arg323GlnfsTer15) c.964-95_964-94insG (n.964-95_964-94insG) c.934-95_934-94insG (n.934-95_934-94insG) c.859-95_859-94insG (n.859-95_859-94insG) c.757-95_757-94insG (n.757-95_757-94insG) c.293_294insG (p.Arg99GlnfsTer15) | COSMIC |
| 5 | g.112819175C>A | CA445960306 | APC | c.1143C>A (p.Ala381=) n.1199C>A c.*1149C>A (n.*1149C>A) c.1089C>A (p.Ala363=) c.*465C>A (n.*465C>A) c.1173C>A (p.Ala391=) c.1068C>A (p.Ala356=) c.1059C>A (p.Ala353=) c.966C>A (p.Ala322=) c.964-94C>A (n.964-94C>A) c.934-94C>A (n.934-94C>A) c.859-94C>A (n.859-94C>A) c.757-94C>A (n.757-94C>A) c.294C>A (p.Ala98=) | |
| 5 | g.112819175C>G | CA445960307 | APC | c.1143C>G (p.Ala381=) n.1199C>G c.*1149C>G (n.*1149C>G) c.1089C>G (p.Ala363=) c.*465C>G (n.*465C>G) c.1173C>G (p.Ala391=) c.1068C>G (p.Ala356=) c.1059C>G (p.Ala353=) c.966C>G (p.Ala322=) c.964-94C>G (n.964-94C>G) c.934-94C>G (n.934-94C>G) c.859-94C>G (n.859-94C>G) c.757-94C>G (n.757-94C>G) c.294C>G (p.Ala98=) | dbSNP |
| 5 | g.112819175C>T | CA445960305 | APC | c.1143C>T (p.Ala381=) n.1199C>T c.*1149C>T (n.*1149C>T) c.1089C>T (p.Ala363=) c.*465C>T (n.*465C>T) c.1173C>T (p.Ala391=) c.1068C>T (p.Ala356=) c.1059C>T (p.Ala353=) c.966C>T (p.Ala322=) c.964-94C>T (n.964-94C>T) c.934-94C>T (n.934-94C>T) c.859-94C>T (n.859-94C>T) c.757-94C>T (n.757-94C>T) c.294C>T (p.Ala98=) | ClinVar dbSNP |
| 5 | g.112819175_112819176insG | CA445960309 | APC | c.1143_1144insG (p.Arg382GlufsTer15) n.1199_1200insG c.*1149_*1150insG (n.*1149_*1150insG) c.1089_1090insG (p.Arg364GlufsTer15) c.*465_*466insG (n.*465_*466insG) c.1173_1174insG (p.Arg392GlufsTer15) c.1068_1069insG (p.Arg357GlufsTer15) c.1059_1060insG (p.Arg354GlufsTer15) c.966_967insG (p.Arg323GlufsTer15) c.964-94_964-93insG (n.964-94_964-93insG) c.934-94_934-93insG (n.934-94_934-93insG) c.859-94_859-93insG (n.859-94_859-93insG) c.757-94_757-93insG (n.757-94_757-93insG) c.294_295insG (p.Arg99GlufsTer15) | |
| 5 | g.112819176A>C | CA445960308 | APC | c.1144A>C (p.Arg382=) n.1200A>C c.*1150A>C (n.*1150A>C) c.1090A>C (p.Arg364=) c.*466A>C (n.*466A>C) c.1174A>C (p.Arg392=) c.1069A>C (p.Arg357=) c.1060A>C (p.Arg354=) c.967A>C (p.Arg323=) c.964-93A>C (n.964-93A>C) c.934-93A>C (n.934-93A>C) c.859-93A>C (n.859-93A>C) c.757-93A>C (n.757-93A>C) c.295A>C (p.Arg99=) | |
| 5 | g.112819176A>G | CA16023810 | APC | c.1144A>G (p.Arg382Gly) n.1200A>G c.*1150A>G (n.*1150A>G) c.1090A>G (p.Arg364Gly) c.*466A>G (n.*466A>G) c.1174A>G (p.Arg392Gly) c.1069A>G (p.Arg357Gly) c.1060A>G (p.Arg354Gly) c.967A>G (p.Arg323Gly) c.964-93A>G (n.964-93A>G) c.934-93A>G (n.934-93A>G) c.859-93A>G (n.859-93A>G) c.757-93A>G (n.757-93A>G) c.295A>G (p.Arg99Gly) | gnomAD v4 |
| 5 | g.112819176A>T | CA16023811 | APC | c.1144A>T (p.Arg382Trp) n.1200A>T c.*1150A>T (n.*1150A>T) c.1090A>T (p.Arg364Trp) c.*466A>T (n.*466A>T) c.1174A>T (p.Arg392Trp) c.1069A>T (p.Arg357Trp) c.1060A>T (p.Arg354Trp) c.967A>T (p.Arg323Trp) c.964-93A>T (n.964-93A>T) c.934-93A>T (n.934-93A>T) c.859-93A>T (n.859-93A>T) c.757-93A>T (n.757-93A>T) c.295A>T (p.Arg99Trp) | |
| 5 | g.112819177G>A | CA026798 | APC | c.1145G>A (p.Arg382Lys) n.1201G>A c.*1151G>A (n.*1151G>A) c.1091G>A (p.Arg364Lys) c.*467G>A (n.*467G>A) c.1175G>A (p.Arg392Lys) c.1070G>A (p.Arg357Lys) c.1061G>A (p.Arg354Lys) c.968G>A (p.Arg323Lys) c.964-92G>A (n.964-92G>A) c.934-92G>A (n.934-92G>A) c.859-92G>A (n.859-92G>A) c.757-92G>A (n.757-92G>A) c.296G>A (p.Arg99Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112819177G>C | CA16023812 | APC | c.1145G>C (p.Arg382Thr) n.1201G>C c.*1151G>C (n.*1151G>C) c.1091G>C (p.Arg364Thr) c.*467G>C (n.*467G>C) c.1175G>C (p.Arg392Thr) c.1070G>C (p.Arg357Thr) c.1061G>C (p.Arg354Thr) c.968G>C (p.Arg323Thr) c.964-92G>C (n.964-92G>C) c.934-92G>C (n.934-92G>C) c.859-92G>C (n.859-92G>C) c.757-92G>C (n.757-92G>C) c.296G>C (p.Arg99Thr) | dbSNP |
| 5 | g.112819177G= | CA1573492348 | APC | c.1145G= (p.Arg382=) n.1201G= c.*1151G= (n.*1151G=) c.1091G= (p.Arg364=) c.*467G= (n.*467G=) c.1175G= (p.Arg392=) c.1070G= (p.Arg357=) c.1061G= (p.Arg354=) c.968G= (p.Arg323=) c.964-92G= (n.964-92G=) c.934-92G= (n.934-92G=) c.859-92G= (n.859-92G=) c.757-92G= (n.757-92G=) c.296G= (p.Arg99=) | |
| 5 | g.112819177G>T | CA16023813 | APC | c.1145G>T (p.Arg382Met) n.1201G>T c.*1151G>T (n.*1151G>T) c.1091G>T (p.Arg364Met) c.*467G>T (n.*467G>T) c.1175G>T (p.Arg392Met) c.1070G>T (p.Arg357Met) c.1061G>T (p.Arg354Met) c.968G>T (p.Arg323Met) c.964-92G>T (n.964-92G>T) c.934-92G>T (n.934-92G>T) c.859-92G>T (n.859-92G>T) c.757-92G>T (n.757-92G>T) c.296G>T (p.Arg99Met) | dbSNP gnomAD v4 |
| 5 | g.112819178G>A | CA445960310 | APC | c.1146G>A (p.Arg382=) n.1202G>A c.*1152G>A (n.*1152G>A) c.1092G>A (p.Arg364=) c.*468G>A (n.*468G>A) c.1176G>A (p.Arg392=) c.1071G>A (p.Arg357=) c.1062G>A (p.Arg354=) c.969G>A (p.Arg323=) c.964-91G>A (n.964-91G>A) c.934-91G>A (n.934-91G>A) c.859-91G>A (n.859-91G>A) c.757-91G>A (n.757-91G>A) c.297G>A (p.Arg99=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112819178G>C | CA16023814 | APC | c.1146G>C (p.Arg382Ser) n.1202G>C c.*1152G>C (n.*1152G>C) c.1092G>C (p.Arg364Ser) c.*468G>C (n.*468G>C) c.1176G>C (p.Arg392Ser) c.1071G>C (p.Arg357Ser) c.1062G>C (p.Arg354Ser) c.969G>C (p.Arg323Ser) c.964-91G>C (n.964-91G>C) c.934-91G>C (n.934-91G>C) c.859-91G>C (n.859-91G>C) c.757-91G>C (n.757-91G>C) c.297G>C (p.Arg99Ser) | dbSNP |
| 5 | g.112819178G= | CA1573492356 | APC | c.1146G= (p.Arg382=) n.1202G= c.*1152G= (n.*1152G=) c.1092G= (p.Arg364=) c.*468G= (n.*468G=) c.1176G= (p.Arg392=) c.1071G= (p.Arg357=) c.1062G= (p.Arg354=) c.969G= (p.Arg323=) c.964-91G= (n.964-91G=) c.934-91G= (n.934-91G=) c.859-91G= (n.859-91G=) c.757-91G= (n.757-91G=) c.297G= (p.Arg99=) | |
| 5 | g.112819178G>T | CA16023815 | APC | c.1146G>T (p.Arg382Ser) n.1202G>T c.*1152G>T (n.*1152G>T) c.1092G>T (p.Arg364Ser) c.*468G>T (n.*468G>T) c.1176G>T (p.Arg392Ser) c.1071G>T (p.Arg357Ser) c.1062G>T (p.Arg354Ser) c.969G>T (p.Arg323Ser) c.964-91G>T (n.964-91G>T) c.934-91G>T (n.934-91G>T) c.859-91G>T (n.859-91G>T) c.757-91G>T (n.757-91G>T) c.297G>T (p.Arg99Ser) | dbSNP COSMIC |
| 5 | g.112819179G>A | CA16023816 | APC | c.1147G>A (p.Ala383Thr) n.1203G>A c.*1153G>A (n.*1153G>A) c.1093G>A (p.Ala365Thr) c.*469G>A (n.*469G>A) c.1177G>A (p.Ala393Thr) c.1072G>A (p.Ala358Thr) c.1063G>A (p.Ala355Thr) c.970G>A (p.Ala324Thr) c.964-90G>A (n.964-90G>A) c.934-90G>A (n.934-90G>A) c.859-90G>A (n.859-90G>A) c.757-90G>A (n.757-90G>A) c.298G>A (p.Ala100Thr) | COSMIC |
| 5 | g.112819179G>C | CA16023817 | APC | c.1147G>C (p.Ala383Pro) n.1203G>C c.*1153G>C (n.*1153G>C) c.1093G>C (p.Ala365Pro) c.*469G>C (n.*469G>C) c.1177G>C (p.Ala393Pro) c.1072G>C (p.Ala358Pro) c.1063G>C (p.Ala355Pro) c.970G>C (p.Ala324Pro) c.964-90G>C (n.964-90G>C) c.934-90G>C (n.934-90G>C) c.859-90G>C (n.859-90G>C) c.757-90G>C (n.757-90G>C) c.298G>C (p.Ala100Pro) | |
| 5 | g.112819179G>T | CA16023818 | APC | c.1147G>T (p.Ala383Ser) n.1203G>T c.*1153G>T (n.*1153G>T) c.1093G>T (p.Ala365Ser) c.*469G>T (n.*469G>T) c.1177G>T (p.Ala393Ser) c.1072G>T (p.Ala358Ser) c.1063G>T (p.Ala355Ser) c.970G>T (p.Ala324Ser) c.964-90G>T (n.964-90G>T) c.934-90G>T (n.934-90G>T) c.859-90G>T (n.859-90G>T) c.757-90G>T (n.757-90G>T) c.298G>T (p.Ala100Ser) | |
| 5 | g.112819180C>A | CA16023819 | APC | c.1148C>A (p.Ala383Asp) n.1204C>A c.*1154C>A (n.*1154C>A) c.1094C>A (p.Ala365Asp) c.*470C>A (n.*470C>A) c.1178C>A (p.Ala393Asp) c.1073C>A (p.Ala358Asp) c.1064C>A (p.Ala355Asp) c.971C>A (p.Ala324Asp) c.964-89C>A (n.964-89C>A) c.934-89C>A (n.934-89C>A) c.859-89C>A (n.859-89C>A) c.757-89C>A (n.757-89C>A) c.299C>A (p.Ala100Asp) | dbSNP |
| 5 | g.112819180C>G | CA16023820 | APC | c.1148C>G (p.Ala383Gly) n.1204C>G c.*1154C>G (n.*1154C>G) c.1094C>G (p.Ala365Gly) c.*470C>G (n.*470C>G) c.1178C>G (p.Ala393Gly) c.1073C>G (p.Ala358Gly) c.1064C>G (p.Ala355Gly) c.971C>G (p.Ala324Gly) c.964-89C>G (n.964-89C>G) c.934-89C>G (n.934-89C>G) c.859-89C>G (n.859-89C>G) c.757-89C>G (n.757-89C>G) c.299C>G (p.Ala100Gly) | dbSNP |
| 5 | g.112819180C>T | CA16023821 | APC | c.1148C>T (p.Ala383Val) n.1204C>T c.*1154C>T (n.*1154C>T) c.1094C>T (p.Ala365Val) c.*470C>T (n.*470C>T) c.1178C>T (p.Ala393Val) c.1073C>T (p.Ala358Val) c.1064C>T (p.Ala355Val) c.971C>T (p.Ala324Val) c.964-89C>T (n.964-89C>T) c.934-89C>T (n.934-89C>T) c.859-89C>T (n.859-89C>T) c.757-89C>T (n.757-89C>T) c.299C>T (p.Ala100Val) | dbSNP |
| 5 | g.112819181C>A | CA445960311 | APC | c.1149C>A (p.Ala383=) n.1205C>A c.*1155C>A (n.*1155C>A) c.1095C>A (p.Ala365=) c.*471C>A (n.*471C>A) c.1179C>A (p.Ala393=) c.1074C>A (p.Ala358=) c.1065C>A (p.Ala355=) c.972C>A (p.Ala324=) c.964-88C>A (n.964-88C>A) c.934-88C>A (n.934-88C>A) c.859-88C>A (n.859-88C>A) c.757-88C>A (n.757-88C>A) c.300C>A (p.Ala100=) | dbSNP |
| 5 | g.112819181C>G | CA445960312 | APC | c.1149C>G (p.Ala383=) n.1205C>G c.*1155C>G (n.*1155C>G) c.1095C>G (p.Ala365=) c.*471C>G (n.*471C>G) c.1179C>G (p.Ala393=) c.1074C>G (p.Ala358=) c.1065C>G (p.Ala355=) c.972C>G (p.Ala324=) c.964-88C>G (n.964-88C>G) c.934-88C>G (n.934-88C>G) c.859-88C>G (n.859-88C>G) c.757-88C>G (n.757-88C>G) c.300C>G (p.Ala100=) | dbSNP |
| 5 | g.112819181C>T | CA445960313 | APC | c.1149C>T (p.Ala383=) n.1205C>T c.*1155C>T (n.*1155C>T) c.1095C>T (p.Ala365=) c.*471C>T (n.*471C>T) c.1179C>T (p.Ala393=) c.1074C>T (p.Ala358=) c.1065C>T (p.Ala355=) c.972C>T (p.Ala324=) c.964-88C>T (n.964-88C>T) c.934-88C>T (n.934-88C>T) c.859-88C>T (n.859-88C>T) c.757-88C>T (n.757-88C>T) c.300C>T (p.Ala100=) | dbSNP |
| 5 | g.112819182A= | CA1573492364 | APC | c.1150A= (p.Ser384=) n.1206A= c.*1156A= (n.*1156A=) c.1096A= (p.Ser366=) c.*472A= (n.*472A=) c.1180A= (p.Ser394=) c.1075A= (p.Ser359=) c.1066A= (p.Ser356=) c.973A= (p.Ser325=) c.964-87A= (n.964-87A=) c.934-87A= (n.934-87A=) c.859-87A= (n.859-87A=) c.757-87A= (n.757-87A=) c.301A= (p.Ser101=) | |
| 5 | g.112819182A>C | CA16023822 | APC | c.1150A>C (p.Ser384Arg) n.1206A>C c.*1156A>C (n.*1156A>C) c.1096A>C (p.Ser366Arg) c.*472A>C (n.*472A>C) c.1180A>C (p.Ser394Arg) c.1075A>C (p.Ser359Arg) c.1066A>C (p.Ser356Arg) c.973A>C (p.Ser325Arg) c.964-87A>C (n.964-87A>C) c.934-87A>C (n.934-87A>C) c.859-87A>C (n.859-87A>C) c.757-87A>C (n.757-87A>C) c.301A>C (p.Ser101Arg) | ClinVar dbSNP |
| 5 | g.112819182A>G | CA16023823 | APC | c.1150A>G (p.Ser384Gly) n.1206A>G c.*1156A>G (n.*1156A>G) c.1096A>G (p.Ser366Gly) c.*472A>G (n.*472A>G) c.1180A>G (p.Ser394Gly) c.1075A>G (p.Ser359Gly) c.1066A>G (p.Ser356Gly) c.973A>G (p.Ser325Gly) c.964-87A>G (n.964-87A>G) c.934-87A>G (n.934-87A>G) c.859-87A>G (n.859-87A>G) c.757-87A>G (n.757-87A>G) c.301A>G (p.Ser101Gly) | dbSNP gnomAD v4 |
| 5 | g.112819182A>T | CA16023824 | APC | c.1150A>T (p.Ser384Cys) n.1206A>T c.*1156A>T (n.*1156A>T) c.1096A>T (p.Ser366Cys) c.*472A>T (n.*472A>T) c.1180A>T (p.Ser394Cys) c.1075A>T (p.Ser359Cys) c.1066A>T (p.Ser356Cys) c.973A>T (p.Ser325Cys) c.964-87A>T (n.964-87A>T) c.934-87A>T (n.934-87A>T) c.859-87A>T (n.859-87A>T) c.757-87A>T (n.757-87A>T) c.301A>T (p.Ser101Cys) | dbSNP |
| 5 | g.112819183del | CA658760532 | APC | c.1151del (p.Ser384MetfsTer?) n.1207del c.*1157del (n.*1157del) c.1097del (p.Ser366MetfsTer?) c.*473del (n.*473del) c.1181del (p.Ser394MetfsTer?) c.1076del (p.Ser359MetfsTer?) c.1067del (p.Ser356MetfsTer?) c.974del (p.Ser325MetfsTer?) c.964-86del (n.964-86del) c.934-86del (n.934-86del) c.859-86del (n.859-86del) c.757-86del (n.757-86del) c.302del (p.Ser101MetfsTer?) |