Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112818663_112819534delinsACATTTTCCTTTGCTAAATTTTTCTAGGGAAATACAGACTTAATCTTTTAAATATGAGTAGCACAAATGGCTGATATGAATTTTCTCCTCTTAGTCATAAAGACAGCATATTAACTAAACATGTTTTCTGTTTAAAAATTTCACATTTGCTTTGAAACATGCACTACGATGTACACTATAGAGAACATACTTGGATTTTTGTCCTGGTCCATGCCTGGTTCATGAGCTTCCTGCCACTCCCAACAGGTTTCACAGTAAGCGCGTATCTGTTCCAAAAGATGAAGGACTCGGATTTCACGCCTGCCTCTCTTGTCATCAGGCTGTGAGTGAATGATGTTGTGGAGTGCTGCACTGGCCCTGGCCCGAGCCTCTTTACTGCCCCGGGAATTTCCCAACAATACAGAGTCTTTGTCATTGCCATGTAAAAGCTGGATGAGGAGAGGAAGACATCCAGACTGTCGCATGGATATACAGCTGTCTTGGGAGCTAGACATAGCTAGCAAAGTTCGCGACATATCATCCTTATCATGAGTACCAAGCATTGACAACAATGAATACACCATTTCCACCTGTGGGCCAAATGAGTTTAGAAACAAAATTACGACTTTAATATCCAAAAGCCAAAAACCAATTAAGTGATGAATGGGATATTTACTATAACTCTAAAAAAACAAAACAACCCCCCCCGCCAAAAAAAAAACAAAAAACCGGAAAACCTTTCCAGGATGAAGTAATCAGTGTTATTTCAAAATCTATGTATCATCACCAATTTGTTTATGTGAGTAAATAGTATGAGTGGTAATATACAGTATTAAAAGCAAAAGTAGGTTTTTGCATACTCACTAACAAACTGTTAGTGCTGTTTGCCTAGACA2580072438APCc.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
5g.112819171_112819186dupCA2674866797APCc.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
5g.112819178_112819183dupCA1573492316APCc.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
5g.112819176A>CCA445960308APCc.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=)
5g.112819176A>GCA16023810APCc.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
5g.112819176A>TCA16023811APCc.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)
5g.112819177G>ACA026798APCc.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
5g.112819177G>CCA16023812APCc.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
5g.112819177G=CA1573492348APCc.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=)
5g.112819177G>TCA16023813APCc.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
5g.112819178G>ACA445960310APCc.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
5g.112819178G>CCA16023814APCc.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
5g.112819178G=CA1573492356APCc.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=)
5g.112819178G>TCA16023815APCc.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
5g.112819179G>ACA16023816APCc.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
5g.112819179G>CCA16023817APCc.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)
5g.112819179G>TCA16023818APCc.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)
5g.112819180C>ACA16023819APCc.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
5g.112819180C>GCA16023820APCc.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
5g.112819180C>TCA16023821APCc.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)
 ClinVar dbSNP
5g.112819181C>ACA445960311APCc.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
5g.112819181C>GCA445960312APCc.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
5g.112819181C>TCA445960313APCc.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=)
 ClinVar dbSNP
5g.112819182A=CA1573492364APCc.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=)
5g.112819182A>CCA16023822APCc.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
5g.112819182A>GCA16023823APCc.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
5g.112819182A>TCA16023824APCc.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
5g.112819183delCA658760532APCc.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?)
5g.112819183G>ACA16023825APCc.1151G>A (p.Ser384Asn)
n.1207G>A
c.*1157G>A (n.*1157G>A)
c.1097G>A (p.Ser366Asn)
c.*473G>A (n.*473G>A)
c.1181G>A (p.Ser394Asn)
c.1076G>A (p.Ser359Asn)
c.1067G>A (p.Ser356Asn)
c.974G>A (p.Ser325Asn)
c.964-86G>A (n.964-86G>A)
c.934-86G>A (n.934-86G>A)
c.859-86G>A (n.859-86G>A)
c.757-86G>A (n.757-86G>A)
c.302G>A (p.Ser101Asn)
 ClinVar dbSNP gnomAD v4
5g.112819183G>CCA16023826APCc.1151G>C (p.Ser384Thr)
n.1207G>C
c.*1157G>C (n.*1157G>C)
c.1097G>C (p.Ser366Thr)
c.*473G>C (n.*473G>C)
c.1181G>C (p.Ser394Thr)
c.1076G>C (p.Ser359Thr)
c.1067G>C (p.Ser356Thr)
c.974G>C (p.Ser325Thr)
c.964-86G>C (n.964-86G>C)
c.934-86G>C (n.934-86G>C)
c.859-86G>C (n.859-86G>C)
c.757-86G>C (n.757-86G>C)
c.302G>C (p.Ser101Thr)
5g.112819183G>TCA16023827APCc.1151G>T (p.Ser384Ile)
n.1207G>T
c.*1157G>T (n.*1157G>T)
c.1097G>T (p.Ser366Ile)
c.*473G>T (n.*473G>T)
c.1181G>T (p.Ser394Ile)
c.1076G>T (p.Ser359Ile)
c.1067G>T (p.Ser356Ile)
c.974G>T (p.Ser325Ile)
c.964-86G>T (n.964-86G>T)
c.934-86G>T (n.934-86G>T)
c.859-86G>T (n.859-86G>T)
c.757-86G>T (n.757-86G>T)
c.302G>T (p.Ser101Ile)
 COSMIC
5g.112819186_112819187insCGTGCCA891841959APCc.1154_1155insCGTGC (p.Ala386ValfsTer?)
n.1210_1211insCGTGC
c.*1160_*1161insCGTGC (n.*1160_*1161insCGTGC)
c.1100_1101insCGTGC (p.Ala368ValfsTer?)
c.*476_*477insCGTGC (n.*476_*477insCGTGC)
c.1184_1185insCGTGC (p.Ala396ValfsTer?)
c.1079_1080insCGTGC (p.Ala361ValfsTer?)
c.1070_1071insCGTGC (p.Ala358ValfsTer?)
c.977_978insCGTGC (p.Ala327ValfsTer?)
c.964-83_964-82insCGTGC (n.964-83_964-82insCGTGC)
c.934-83_934-82insCGTGC (n.934-83_934-82insCGTGC)
c.859-83_859-82insCGTGC (n.859-83_859-82insCGTGC)
c.757-83_757-82insCGTGC (n.757-83_757-82insCGTGC)
c.305_306insCGTGC (p.Ala103ValfsTer?)
5g.112819184T>ACA16023828APCc.1152T>A (p.Ser384Arg)
n.1208T>A
c.*1158T>A (n.*1158T>A)
c.1098T>A (p.Ser366Arg)
c.*474T>A (n.*474T>A)
c.1182T>A (p.Ser394Arg)
c.1077T>A (p.Ser359Arg)
c.1068T>A (p.Ser356Arg)
c.975T>A (p.Ser325Arg)
c.964-85T>A (n.964-85T>A)
c.934-85T>A (n.934-85T>A)
c.859-85T>A (n.859-85T>A)
c.757-85T>A (n.757-85T>A)
c.303T>A (p.Ser101Arg)
 dbSNP COSMIC
5g.112819184T>CCA445960314APCc.1152T>C (p.Ser384=)
n.1208T>C
c.*1158T>C (n.*1158T>C)
c.1098T>C (p.Ser366=)
c.*474T>C (n.*474T>C)
c.1182T>C (p.Ser394=)
c.1077T>C (p.Ser359=)
c.1068T>C (p.Ser356=)
c.975T>C (p.Ser325=)
c.964-85T>C (n.964-85T>C)
c.934-85T>C (n.934-85T>C)
c.859-85T>C (n.859-85T>C)
c.757-85T>C (n.757-85T>C)
c.303T>C (p.Ser101=)
5g.112819184T>GCA16023829APCc.1152T>G (p.Ser384Arg)
n.1208T>G
c.*1158T>G (n.*1158T>G)
c.1098T>G (p.Ser366Arg)
c.*474T>G (n.*474T>G)
c.1182T>G (p.Ser394Arg)
c.1077T>G (p.Ser359Arg)
c.1068T>G (p.Ser356Arg)
c.975T>G (p.Ser325Arg)
c.964-85T>G (n.964-85T>G)
c.934-85T>G (n.934-85T>G)
c.859-85T>G (n.859-85T>G)
c.757-85T>G (n.757-85T>G)
c.303T>G (p.Ser101Arg)
 dbSNP
5g.112819184T=CA1573492368APCc.1152T= (p.Ser384=)
n.1208T=
c.*1158T= (n.*1158T=)
c.1098T= (p.Ser366=)
c.*474T= (n.*474T=)
c.1182T= (p.Ser394=)
c.1077T= (p.Ser359=)
c.1068T= (p.Ser356=)
c.975T= (p.Ser325=)
c.964-85T= (n.964-85T=)
c.934-85T= (n.934-85T=)
c.859-85T= (n.859-85T=)
c.757-85T= (n.757-85T=)
c.303T= (p.Ser101=)
5g.112819185G>ACA16023830APCc.1153G>A (p.Ala385Thr)
n.1209G>A
c.*1159G>A (n.*1159G>A)
c.1099G>A (p.Ala367Thr)
c.*475G>A (n.*475G>A)
c.1183G>A (p.Ala395Thr)
c.1078G>A (p.Ala360Thr)
c.1069G>A (p.Ala357Thr)
c.976G>A (p.Ala326Thr)
c.964-84G>A (n.964-84G>A)
c.934-84G>A (n.934-84G>A)
c.859-84G>A (n.859-84G>A)
c.757-84G>A (n.757-84G>A)
c.304G>A (p.Ala102Thr)
 dbSNP COSMIC
5g.112819185G>CCA16023831APCc.1153G>C (p.Ala385Pro)
n.1209G>C
c.*1159G>C (n.*1159G>C)
c.1099G>C (p.Ala367Pro)
c.*475G>C (n.*475G>C)
c.1183G>C (p.Ala395Pro)
c.1078G>C (p.Ala360Pro)
c.1069G>C (p.Ala357Pro)
c.976G>C (p.Ala326Pro)
c.964-84G>C (n.964-84G>C)
c.934-84G>C (n.934-84G>C)
c.859-84G>C (n.859-84G>C)
c.757-84G>C (n.757-84G>C)
c.304G>C (p.Ala102Pro)
 dbSNP
5g.112819185G>TCA16023832APCc.1153G>T (p.Ala385Ser)
n.1209G>T
c.*1159G>T (n.*1159G>T)
c.1099G>T (p.Ala367Ser)
c.*475G>T (n.*475G>T)
c.1183G>T (p.Ala395Ser)
c.1078G>T (p.Ala360Ser)
c.1069G>T (p.Ala357Ser)
c.976G>T (p.Ala326Ser)
c.964-84G>T (n.964-84G>T)
c.934-84G>T (n.934-84G>T)
c.859-84G>T (n.859-84G>T)
c.757-84G>T (n.757-84G>T)
c.304G>T (p.Ala102Ser)
 dbSNP
5g.112819185dupCA1139658987APCc.1153dup (p.Ala385GlyfsTer12)
n.1209dup
c.*1159dup (n.*1159dup)
c.1099dup (p.Ala367GlyfsTer12)
c.*475dup (n.*475dup)
c.1183dup (p.Ala395GlyfsTer12)
c.1078dup (p.Ala360GlyfsTer12)
c.1069dup (p.Ala357GlyfsTer12)
c.976dup (p.Ala326GlyfsTer12)
c.964-84dup (n.964-84dup)
c.934-84dup (n.934-84dup)
c.859-84dup (n.859-84dup)
c.757-84dup (n.757-84dup)
c.304dup (p.Ala102GlyfsTer12)
 ClinVar dbSNP
5g.112819186C>ACA16023833APCc.1154C>A (p.Ala385Glu)
n.1210C>A
c.*1160C>A (n.*1160C>A)
c.1100C>A (p.Ala367Glu)
c.*476C>A (n.*476C>A)
c.1184C>A (p.Ala395Glu)
c.1079C>A (p.Ala360Glu)
c.1070C>A (p.Ala357Glu)
c.977C>A (p.Ala326Glu)
c.964-83C>A (n.964-83C>A)
c.934-83C>A (n.934-83C>A)
c.859-83C>A (n.859-83C>A)
c.757-83C>A (n.757-83C>A)
c.305C>A (p.Ala102Glu)
 dbSNP
5g.112819186C=CA1573492375APCc.1154C= (p.Ala385=)
n.1210C=
c.*1160C= (n.*1160C=)
c.1100C= (p.Ala367=)
c.*476C= (n.*476C=)
c.1184C= (p.Ala395=)
c.1079C= (p.Ala360=)
c.1070C= (p.Ala357=)
c.977C= (p.Ala326=)
c.964-83C= (n.964-83C=)
c.934-83C= (n.934-83C=)
c.859-83C= (n.859-83C=)
c.757-83C= (n.757-83C=)
c.305C= (p.Ala102=)
5g.112819186C>GCA16023834APCc.1154C>G (p.Ala385Gly)
n.1210C>G
c.*1160C>G (n.*1160C>G)
c.1100C>G (p.Ala367Gly)
c.*476C>G (n.*476C>G)
c.1184C>G (p.Ala395Gly)
c.1079C>G (p.Ala360Gly)
c.1070C>G (p.Ala357Gly)
c.977C>G (p.Ala326Gly)
c.964-83C>G (n.964-83C>G)
c.934-83C>G (n.934-83C>G)
c.859-83C>G (n.859-83C>G)
c.757-83C>G (n.757-83C>G)
c.305C>G (p.Ala102Gly)
 dbSNP
5g.112819186C>TCA004066APCc.1154C>T (p.Ala385Val)
n.1210C>T
c.*1160C>T (n.*1160C>T)
c.1100C>T (p.Ala367Val)
c.*476C>T (n.*476C>T)
c.1184C>T (p.Ala395Val)
c.1079C>T (p.Ala360Val)
c.1070C>T (p.Ala357Val)
c.977C>T (p.Ala326Val)
c.964-83C>T (n.964-83C>T)
c.934-83C>T (n.934-83C>T)
c.859-83C>T (n.859-83C>T)
c.757-83C>T (n.757-83C>T)
c.305C>T (p.Ala102Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112819187A=CA1573492381APCc.1155A= (p.Ala385=)
n.1211A=
c.*1161A= (n.*1161A=)
c.1101A= (p.Ala367=)
c.*477A= (n.*477A=)
c.1185A= (p.Ala395=)
c.1080A= (p.Ala360=)
c.1071A= (p.Ala357=)
c.978A= (p.Ala326=)
c.964-82A= (n.964-82A=)
c.934-82A= (n.934-82A=)
c.859-82A= (n.859-82A=)
c.757-82A= (n.757-82A=)
c.306A= (p.Ala102=)
5g.112819187A>CCA445960315APCc.1155A>C (p.Ala385=)
n.1211A>C
c.*1161A>C (n.*1161A>C)
c.1101A>C (p.Ala367=)
c.*477A>C (n.*477A>C)
c.1185A>C (p.Ala395=)
c.1080A>C (p.Ala360=)
c.1071A>C (p.Ala357=)
c.978A>C (p.Ala326=)
c.964-82A>C (n.964-82A>C)
c.934-82A>C (n.934-82A>C)
c.859-82A>C (n.859-82A>C)
c.757-82A>C (n.757-82A>C)
c.306A>C (p.Ala102=)
 ClinVar dbSNP
5g.112819187A>GCA445960316APCc.1155A>G (p.Ala385=)
n.1211A>G
c.*1161A>G (n.*1161A>G)
c.1101A>G (p.Ala367=)
c.*477A>G (n.*477A>G)
c.1185A>G (p.Ala395=)
c.1080A>G (p.Ala360=)
c.1071A>G (p.Ala357=)
c.978A>G (p.Ala326=)
c.964-82A>G (n.964-82A>G)
c.934-82A>G (n.934-82A>G)
c.859-82A>G (n.859-82A>G)
c.757-82A>G (n.757-82A>G)
c.306A>G (p.Ala102=)
 ClinVar gnomAD v4
5g.112819187A>TCA445960317APCc.1155A>T (p.Ala385=)
n.1211A>T
c.*1161A>T (n.*1161A>T)
c.1101A>T (p.Ala367=)
c.*477A>T (n.*477A>T)
c.1185A>T (p.Ala395=)
c.1080A>T (p.Ala360=)
c.1071A>T (p.Ala357=)
c.978A>T (p.Ala326=)
c.964-82A>T (n.964-82A>T)
c.934-82A>T (n.934-82A>T)
c.859-82A>T (n.859-82A>T)
c.757-82A>T (n.757-82A>T)
c.306A>T (p.Ala102=)
 dbSNP
5g.112819188G>ACA16023835APCc.1156G>A (p.Ala386Thr)
n.1212G>A
c.*1162G>A (n.*1162G>A)
c.1102G>A (p.Ala368Thr)
c.*478G>A (n.*478G>A)
c.1186G>A (p.Ala396Thr)
c.1081G>A (p.Ala361Thr)
c.1072G>A (p.Ala358Thr)
c.979G>A (p.Ala327Thr)
c.964-81G>A (n.964-81G>A)
c.934-81G>A (n.934-81G>A)
c.859-81G>A (n.859-81G>A)
c.757-81G>A (n.757-81G>A)
c.307G>A (p.Ala103Thr)
 dbSNP gnomAD v2
5g.112819188G>CCA16023836APCc.1156G>C (p.Ala386Pro)
n.1212G>C
c.*1162G>C (n.*1162G>C)
c.1102G>C (p.Ala368Pro)
c.*478G>C (n.*478G>C)
c.1186G>C (p.Ala396Pro)
c.1081G>C (p.Ala361Pro)
c.1072G>C (p.Ala358Pro)
c.979G>C (p.Ala327Pro)
c.964-81G>C (n.964-81G>C)
c.934-81G>C (n.934-81G>C)
c.859-81G>C (n.859-81G>C)
c.757-81G>C (n.757-81G>C)
c.307G>C (p.Ala103Pro)
 dbSNP
5g.112819188G=CA1573492388APCc.1156G= (p.Ala386=)
n.1212G=
c.*1162G= (n.*1162G=)
c.1102G= (p.Ala368=)
c.*478G= (n.*478G=)
c.1186G= (p.Ala396=)
c.1081G= (p.Ala361=)
c.1072G= (p.Ala358=)
c.979G= (p.Ala327=)
c.964-81G= (n.964-81G=)
c.934-81G= (n.934-81G=)
c.859-81G= (n.859-81G=)
c.757-81G= (n.757-81G=)
c.307G= (p.Ala103=)
5g.112819188G>TCA16023837APCc.1156G>T (p.Ala386Ser)
n.1212G>T
c.*1162G>T (n.*1162G>T)
c.1102G>T (p.Ala368Ser)
c.*478G>T (n.*478G>T)
c.1186G>T (p.Ala396Ser)
c.1081G>T (p.Ala361Ser)
c.1072G>T (p.Ala358Ser)
c.979G>T (p.Ala327Ser)
c.964-81G>T (n.964-81G>T)
c.934-81G>T (n.934-81G>T)
c.859-81G>T (n.859-81G>T)
c.757-81G>T (n.757-81G>T)
c.307G>T (p.Ala103Ser)
5g.112819189C>ACA16023838APCc.1157C>A (p.Ala386Glu)
n.1213C>A
c.*1163C>A (n.*1163C>A)
c.1103C>A (p.Ala368Glu)
c.*479C>A (n.*479C>A)
c.1187C>A (p.Ala396Glu)
c.1082C>A (p.Ala361Glu)
c.1073C>A (p.Ala358Glu)
c.980C>A (p.Ala327Glu)
c.964-80C>A (n.964-80C>A)
c.934-80C>A (n.934-80C>A)
c.859-80C>A (n.859-80C>A)
c.757-80C>A (n.757-80C>A)
c.308C>A (p.Ala103Glu)
5g.112819189C>GCA16023839APCc.1157C>G (p.Ala386Gly)
n.1213C>G
c.*1163C>G (n.*1163C>G)
c.1103C>G (p.Ala368Gly)
c.*479C>G (n.*479C>G)
c.1187C>G (p.Ala396Gly)
c.1082C>G (p.Ala361Gly)
c.1073C>G (p.Ala358Gly)
c.980C>G (p.Ala327Gly)
c.964-80C>G (n.964-80C>G)
c.934-80C>G (n.934-80C>G)
c.859-80C>G (n.859-80C>G)
c.757-80C>G (n.757-80C>G)
c.308C>G (p.Ala103Gly)
5g.112819189C>TCA16023840APCc.1157C>T (p.Ala386Val)
n.1213C>T
c.*1163C>T (n.*1163C>T)
c.1103C>T (p.Ala368Val)
c.*479C>T (n.*479C>T)
c.1187C>T (p.Ala396Val)
c.1082C>T (p.Ala361Val)
c.1073C>T (p.Ala358Val)
c.980C>T (p.Ala327Val)
c.964-80C>T (n.964-80C>T)
c.934-80C>T (n.934-80C>T)
c.859-80C>T (n.859-80C>T)
c.757-80C>T (n.757-80C>T)
c.308C>T (p.Ala103Val)
5g.112819190_112819191dupCA2573138822APCc.1158_1159dup (p.Leu387HisfsTer?)
n.1214_1215dup
c.*1164_*1165dup (n.*1164_*1165dup)
c.1104_1105dup (p.Leu369HisfsTer?)
c.*480_*481dup (n.*480_*481dup)
c.1188_1189dup (p.Leu397HisfsTer?)
c.1083_1084dup (p.Leu362HisfsTer?)
c.1074_1075dup (p.Leu359HisfsTer?)
c.981_982dup (p.Leu328HisfsTer?)
c.964-79_964-78dup (n.964-79_964-78dup)
c.934-79_934-78dup (n.934-79_934-78dup)
c.859-79_859-78dup (n.859-79_859-78dup)
c.757-79_757-78dup (n.757-79_757-78dup)
c.309_310dup (p.Leu104HisfsTer?)
 ClinVar dbSNP
5g.112819190_112819191delCA658760534APCc.1158_1159del (p.Leu387ProfsTer9)
n.1214_1215del
c.*1164_*1165del (n.*1164_*1165del)
c.1104_1105del (p.Leu369ProfsTer9)
c.*480_*481del (n.*480_*481del)
c.1188_1189del (p.Leu397ProfsTer9)
c.1083_1084del (p.Leu362ProfsTer9)
c.1074_1075del (p.Leu359ProfsTer9)
c.981_982del (p.Leu328ProfsTer9)
c.964-79_964-78del (n.964-79_964-78del)
c.934-79_934-78del (n.934-79_934-78del)
c.859-79_859-78del (n.859-79_859-78del)
c.757-79_757-78del (n.757-79_757-78del)
c.309_310del (p.Leu104ProfsTer9)
5g.112819192_112819196delCA2582341391APCc.1160_1164del (p.Leu387GlnfsTer8)
n.1216_1220del
c.*1166_*1170del (n.*1166_*1170del)
c.1106_1110del (p.Leu369GlnfsTer8)
c.*482_*486del (n.*482_*486del)
c.1190_1194del (p.Leu397GlnfsTer8)
c.1085_1089del (p.Leu362GlnfsTer8)
c.1076_1080del (p.Leu359GlnfsTer8)
c.983_987del (p.Leu328GlnfsTer8)
c.964-77_964-73del (n.964-77_964-73del)
c.934-77_934-73del (n.934-77_934-73del)
c.859-77_859-73del (n.859-77_859-73del)
c.757-77_757-73del (n.757-77_757-73del)
c.311_315del (p.Leu104GlnfsTer8)
 ClinVar
5g.112819190A=CA1573492393APCc.1158A= (p.Ala386=)
n.1214A=
c.*1164A= (n.*1164A=)
c.1104A= (p.Ala368=)
c.*480A= (n.*480A=)
c.1188A= (p.Ala396=)
c.1083A= (p.Ala361=)
c.1074A= (p.Ala358=)
c.981A= (p.Ala327=)
c.964-79A= (n.964-79A=)
c.934-79A= (n.934-79A=)
c.859-79A= (n.859-79A=)
c.757-79A= (n.757-79A=)
c.309A= (p.Ala103=)
5g.112819190A>CCA445960319APCc.1158A>C (p.Ala386=)
n.1214A>C
c.*1164A>C (n.*1164A>C)
c.1104A>C (p.Ala368=)
c.*480A>C (n.*480A>C)
c.1188A>C (p.Ala396=)
c.1083A>C (p.Ala361=)
c.1074A>C (p.Ala358=)
c.981A>C (p.Ala327=)
c.964-79A>C (n.964-79A>C)
c.934-79A>C (n.934-79A>C)
c.859-79A>C (n.859-79A>C)
c.757-79A>C (n.757-79A>C)
c.309A>C (p.Ala103=)
 ClinVar dbSNP
5g.112819190A>GCA026807APCc.1158A>G (p.Ala386=)
n.1214A>G
c.*1164A>G (n.*1164A>G)
c.1104A>G (p.Ala368=)
c.*480A>G (n.*480A>G)
c.1188A>G (p.Ala396=)
c.1083A>G (p.Ala361=)
c.1074A>G (p.Ala358=)
c.981A>G (p.Ala327=)
c.964-79A>G (n.964-79A>G)
c.934-79A>G (n.934-79A>G)
c.859-79A>G (n.859-79A>G)
c.757-79A>G (n.757-79A>G)
c.309A>G (p.Ala103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819190A>TCA445960318APCc.1158A>T (p.Ala386=)
n.1214A>T
c.*1164A>T (n.*1164A>T)
c.1104A>T (p.Ala368=)
c.*480A>T (n.*480A>T)
c.1188A>T (p.Ala396=)
c.1083A>T (p.Ala361=)
c.1074A>T (p.Ala358=)
c.981A>T (p.Ala327=)
c.964-79A>T (n.964-79A>T)
c.934-79A>T (n.934-79A>T)
c.859-79A>T (n.859-79A>T)
c.757-79A>T (n.757-79A>T)
c.309A>T (p.Ala103=)
 dbSNP
5g.112819191C>ACA16023841APCc.1159C>A (p.Leu387Ile)
n.1215C>A
c.*1165C>A (n.*1165C>A)
c.1105C>A (p.Leu369Ile)
c.*481C>A (n.*481C>A)
c.1189C>A (p.Leu397Ile)
c.1084C>A (p.Leu362Ile)
c.1075C>A (p.Leu359Ile)
c.982C>A (p.Leu328Ile)
c.964-78C>A (n.964-78C>A)
c.934-78C>A (n.934-78C>A)
c.859-78C>A (n.859-78C>A)
c.757-78C>A (n.757-78C>A)
c.310C>A (p.Leu104Ile)
 dbSNP
5g.112819191C=CA1573492397APCc.1159C= (p.Leu387=)
n.1215C=
c.*1165C= (n.*1165C=)
c.1105C= (p.Leu369=)
c.*481C= (n.*481C=)
c.1189C= (p.Leu397=)
c.1084C= (p.Leu362=)
c.1075C= (p.Leu359=)
c.982C= (p.Leu328=)
c.964-78C= (n.964-78C=)
c.934-78C= (n.934-78C=)
c.859-78C= (n.859-78C=)
c.757-78C= (n.757-78C=)
c.310C= (p.Leu104=)
5g.112819191C>GCA026812APCc.1159C>G (p.Leu387Val)
n.1215C>G
c.*1165C>G (n.*1165C>G)
c.1105C>G (p.Leu369Val)
c.*481C>G (n.*481C>G)
c.1189C>G (p.Leu397Val)
c.1084C>G (p.Leu362Val)
c.1075C>G (p.Leu359Val)
c.982C>G (p.Leu328Val)
c.964-78C>G (n.964-78C>G)
c.934-78C>G (n.934-78C>G)
c.859-78C>G (n.859-78C>G)
c.757-78C>G (n.757-78C>G)
c.310C>G (p.Leu104Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819191C>TCA16023842APCc.1159C>T (p.Leu387Phe)
n.1215C>T
c.*1165C>T (n.*1165C>T)
c.1105C>T (p.Leu369Phe)
c.*481C>T (n.*481C>T)
c.1189C>T (p.Leu397Phe)
c.1084C>T (p.Leu362Phe)
c.1075C>T (p.Leu359Phe)
c.982C>T (p.Leu328Phe)
c.964-78C>T (n.964-78C>T)
c.934-78C>T (n.934-78C>T)
c.859-78C>T (n.859-78C>T)
c.757-78C>T (n.757-78C>T)
c.310C>T (p.Leu104Phe)
 ClinVar dbSNP
5g.112819192T>ACA16023843APCc.1160T>A (p.Leu387His)
n.1216T>A
c.*1166T>A (n.*1166T>A)
c.1106T>A (p.Leu369His)
c.*482T>A (n.*482T>A)
c.1190T>A (p.Leu397His)
c.1085T>A (p.Leu362His)
c.1076T>A (p.Leu359His)
c.983T>A (p.Leu328His)
c.964-77T>A (n.964-77T>A)
c.934-77T>A (n.934-77T>A)
c.859-77T>A (n.859-77T>A)
c.757-77T>A (n.757-77T>A)
c.311T>A (p.Leu104His)
5g.112819192T>CCA16023844APCc.1160T>C (p.Leu387Pro)
n.1216T>C
c.*1166T>C (n.*1166T>C)
c.1106T>C (p.Leu369Pro)
c.*482T>C (n.*482T>C)
c.1190T>C (p.Leu397Pro)
c.1085T>C (p.Leu362Pro)
c.1076T>C (p.Leu359Pro)
c.983T>C (p.Leu328Pro)
c.964-77T>C (n.964-77T>C)
c.934-77T>C (n.934-77T>C)
c.859-77T>C (n.859-77T>C)
c.757-77T>C (n.757-77T>C)
c.311T>C (p.Leu104Pro)
5g.112819192T>GCA16023845APCc.1160T>G (p.Leu387Arg)
n.1216T>G
c.*1166T>G (n.*1166T>G)
c.1106T>G (p.Leu369Arg)
c.*482T>G (n.*482T>G)
c.1190T>G (p.Leu397Arg)
c.1085T>G (p.Leu362Arg)
c.1076T>G (p.Leu359Arg)
c.983T>G (p.Leu328Arg)
c.964-77T>G (n.964-77T>G)
c.934-77T>G (n.934-77T>G)
c.859-77T>G (n.859-77T>G)
c.757-77T>G (n.757-77T>G)
c.311T>G (p.Leu104Arg)
5g.112819193C>ACA445960320APCc.1161C>A (p.Leu387=)
n.1217C>A
c.*1167C>A (n.*1167C>A)
c.1107C>A (p.Leu369=)
c.*483C>A (n.*483C>A)
c.1191C>A (p.Leu397=)
c.1086C>A (p.Leu362=)
c.1077C>A (p.Leu359=)
c.984C>A (p.Leu328=)
c.964-76C>A (n.964-76C>A)
c.934-76C>A (n.934-76C>A)
c.859-76C>A (n.859-76C>A)
c.757-76C>A (n.757-76C>A)
c.312C>A (p.Leu104=)
 dbSNP
5g.112819193C=CA1573492399APCc.1161C= (p.Leu387=)
n.1217C=
c.*1167C= (n.*1167C=)
c.1107C= (p.Leu369=)
c.*483C= (n.*483C=)
c.1191C= (p.Leu397=)
c.1086C= (p.Leu362=)
c.1077C= (p.Leu359=)
c.984C= (p.Leu328=)
c.964-76C= (n.964-76C=)
c.934-76C= (n.934-76C=)
c.859-76C= (n.859-76C=)
c.757-76C= (n.757-76C=)
c.312C= (p.Leu104=)
5g.112819193C>GCA445960321APCc.1161C>G (p.Leu387=)
n.1217C>G
c.*1167C>G (n.*1167C>G)
c.1107C>G (p.Leu369=)
c.*483C>G (n.*483C>G)
c.1191C>G (p.Leu397=)
c.1086C>G (p.Leu362=)
c.1077C>G (p.Leu359=)
c.984C>G (p.Leu328=)
c.964-76C>G (n.964-76C>G)
c.934-76C>G (n.934-76C>G)
c.859-76C>G (n.859-76C>G)
c.757-76C>G (n.757-76C>G)
c.312C>G (p.Leu104=)
 ClinVar dbSNP gnomAD v4
5g.112819193C>TCA445960322APCc.1161C>T (p.Leu387=)
n.1217C>T
c.*1167C>T (n.*1167C>T)
c.1107C>T (p.Leu369=)
c.*483C>T (n.*483C>T)
c.1191C>T (p.Leu397=)
c.1086C>T (p.Leu362=)
c.1077C>T (p.Leu359=)
c.984C>T (p.Leu328=)
c.964-76C>T (n.964-76C>T)
c.934-76C>T (n.934-76C>T)
c.859-76C>T (n.859-76C>T)
c.757-76C>T (n.757-76C>T)
c.312C>T (p.Leu104=)
 ClinVar dbSNP gnomAD v4
5g.112819194C>ACA16023846APCc.1162C>A (p.His388Asn)
n.1218C>A
c.*1168C>A (n.*1168C>A)
c.1108C>A (p.His370Asn)
c.*484C>A (n.*484C>A)
c.1192C>A (p.His398Asn)
c.1087C>A (p.His363Asn)
c.1078C>A (p.His360Asn)
c.985C>A (p.His329Asn)
c.964-75C>A (n.964-75C>A)
c.934-75C>A (n.934-75C>A)
c.859-75C>A (n.859-75C>A)
c.757-75C>A (n.757-75C>A)
c.313C>A (p.His105Asn)
 dbSNP
5g.112819194C>GCA16023847APCc.1162C>G (p.His388Asp)
n.1218C>G
c.*1168C>G (n.*1168C>G)
c.1108C>G (p.His370Asp)
c.*484C>G (n.*484C>G)
c.1192C>G (p.His398Asp)
c.1087C>G (p.His363Asp)
c.1078C>G (p.His360Asp)
c.985C>G (p.His329Asp)
c.964-75C>G (n.964-75C>G)
c.934-75C>G (n.934-75C>G)
c.859-75C>G (n.859-75C>G)
c.757-75C>G (n.757-75C>G)
c.313C>G (p.His105Asp)
 dbSNP
5g.112819194C>TCA16023848APCc.1162C>T (p.His388Tyr)
n.1218C>T
c.*1168C>T (n.*1168C>T)
c.1108C>T (p.His370Tyr)
c.*484C>T (n.*484C>T)
c.1192C>T (p.His398Tyr)
c.1087C>T (p.His363Tyr)
c.1078C>T (p.His360Tyr)
c.985C>T (p.His329Tyr)
c.964-75C>T (n.964-75C>T)
c.934-75C>T (n.934-75C>T)
c.859-75C>T (n.859-75C>T)
c.757-75C>T (n.757-75C>T)
c.313C>T (p.His105Tyr)
 ClinVar dbSNP
5g.112819194_112819197delinsCACACA1573492476APCc.1162_1165delinsCACA (p.His388=)
n.1218_1221delinsCACA
c.*1168_*1171delinsCACA (n.*1168_*1171delinsCACA)
c.1108_1111delinsCACA (p.His370=)
c.*484_*487delinsCACA (n.*484_*487delinsCACA)
c.1192_1195delinsCACA (p.His398=)
c.1087_1090delinsCACA (p.His363=)
c.1078_1081delinsCACA (p.His360=)
c.985_988delinsCACA (p.His329=)
c.964-75_964-72delinsCACA (n.964-75_964-72delinsCACA)
c.934-75_934-72delinsCACA (n.934-75_934-72delinsCACA)
c.859-75_859-72delinsCACA (n.859-75_859-72delinsCACA)
c.757-75_757-72delinsCACA (n.757-75_757-72delinsCACA)
c.313_316delinsCACA (p.His105=)
5g.112819194_112819195insCCAACA2767942863APCc.1162_1163insCCAA (p.His388ProfsTer10)
n.1218_1219insCCAA
c.*1168_*1169insCCAA (n.*1168_*1169insCCAA)
c.1108_1109insCCAA (p.His370ProfsTer10)
c.*484_*485insCCAA (n.*484_*485insCCAA)
c.1192_1193insCCAA (p.His398ProfsTer10)
c.1087_1088insCCAA (p.His363ProfsTer10)
c.1078_1079insCCAA (p.His360ProfsTer10)
c.985_986insCCAA (p.His329ProfsTer10)
c.964-75_964-74insCCAA (n.964-75_964-74insCCAA)
c.934-75_934-74insCCAA (n.934-75_934-74insCCAA)
c.859-75_859-74insCCAA (n.859-75_859-74insCCAA)
c.757-75_757-74insCCAA (n.757-75_757-74insCCAA)
c.313_314insCCAA (p.His105ProfsTer10)
5g.112819195A=CA1573492487APCc.1163A= (p.His388=)
n.1219A=
c.*1169A= (n.*1169A=)
c.1109A= (p.His370=)
c.*485A= (n.*485A=)
c.1193A= (p.His398=)
c.1088A= (p.His363=)
c.1079A= (p.His360=)
c.986A= (p.His329=)
c.964-74A= (n.964-74A=)
c.934-74A= (n.934-74A=)
c.859-74A= (n.859-74A=)
c.757-74A= (n.757-74A=)
c.314A= (p.His105=)
5g.112819195A>CCA16023849APCc.1163A>C (p.His388Pro)
n.1219A>C
c.*1169A>C (n.*1169A>C)
c.1109A>C (p.His370Pro)
c.*485A>C (n.*485A>C)
c.1193A>C (p.His398Pro)
c.1088A>C (p.His363Pro)
c.1079A>C (p.His360Pro)
c.986A>C (p.His329Pro)
c.964-74A>C (n.964-74A>C)
c.934-74A>C (n.934-74A>C)
c.859-74A>C (n.859-74A>C)
c.757-74A>C (n.757-74A>C)
c.314A>C (p.His105Pro)
 dbSNP
5g.112819195A>GCA16023850APCc.1163A>G (p.His388Arg)
n.1219A>G
c.*1169A>G (n.*1169A>G)
c.1109A>G (p.His370Arg)
c.*485A>G (n.*485A>G)
c.1193A>G (p.His398Arg)
c.1088A>G (p.His363Arg)
c.1079A>G (p.His360Arg)
c.986A>G (p.His329Arg)
c.964-74A>G (n.964-74A>G)
c.934-74A>G (n.934-74A>G)
c.859-74A>G (n.859-74A>G)
c.757-74A>G (n.757-74A>G)
c.314A>G (p.His105Arg)
 ClinVar dbSNP gnomAD v4
5g.112819195A>TCA16023851APCc.1163A>T (p.His388Leu)
n.1219A>T
c.*1169A>T (n.*1169A>T)
c.1109A>T (p.His370Leu)
c.*485A>T (n.*485A>T)
c.1193A>T (p.His398Leu)
c.1088A>T (p.His363Leu)
c.1079A>T (p.His360Leu)
c.986A>T (p.His329Leu)
c.964-74A>T (n.964-74A>T)
c.934-74A>T (n.934-74A>T)
c.859-74A>T (n.859-74A>T)
c.757-74A>T (n.757-74A>T)
c.314A>T (p.His105Leu)
 dbSNP
5g.112819198_112819200delCA10578306APCc.1166_1168del (p.Asn389del)
n.1222_1224del
c.*1172_*1174del (n.*1172_*1174del)
c.1112_1114del (p.Asn371del)
c.*488_*490del (n.*488_*490del)
c.1196_1198del (p.Asn399del)
c.1091_1093del (p.Asn364del)
c.1082_1084del (p.Asn361del)
c.989_991del (p.Asn330del)
c.964-71_964-69del (n.964-71_964-69del)
c.934-71_934-69del (n.934-71_934-69del)
c.859-71_859-69del (n.859-71_859-69del)
c.757-71_757-69del (n.757-71_757-69del)
c.317_319del (p.Asn106del)
 ClinVar dbSNP
5g.112819196C>ACA16023852APCc.1164C>A (p.His388Gln)
n.1220C>A
c.*1170C>A (n.*1170C>A)
c.1110C>A (p.His370Gln)
c.*486C>A (n.*486C>A)
c.1194C>A (p.His398Gln)
c.1089C>A (p.His363Gln)
c.1080C>A (p.His360Gln)
c.987C>A (p.His329Gln)
c.964-73C>A (n.964-73C>A)
c.934-73C>A (n.934-73C>A)
c.859-73C>A (n.859-73C>A)
c.757-73C>A (n.757-73C>A)
c.315C>A (p.His105Gln)
 dbSNP
5g.112819196C>GCA16023853APCc.1164C>G (p.His388Gln)
n.1220C>G
c.*1170C>G (n.*1170C>G)
c.1110C>G (p.His370Gln)
c.*486C>G (n.*486C>G)
c.1194C>G (p.His398Gln)
c.1089C>G (p.His363Gln)
c.1080C>G (p.His360Gln)
c.987C>G (p.His329Gln)
c.964-73C>G (n.964-73C>G)
c.934-73C>G (n.934-73C>G)
c.859-73C>G (n.859-73C>G)
c.757-73C>G (n.757-73C>G)
c.315C>G (p.His105Gln)
 ClinVar dbSNP gnomAD v4
5g.112819196C>TCA445960323APCc.1164C>T (p.His388=)
n.1220C>T
c.*1170C>T (n.*1170C>T)
c.1110C>T (p.His370=)
c.*486C>T (n.*486C>T)
c.1194C>T (p.His398=)
c.1089C>T (p.His363=)
c.1080C>T (p.His360=)
c.987C>T (p.His329=)
c.964-73C>T (n.964-73C>T)
c.934-73C>T (n.934-73C>T)
c.859-73C>T (n.859-73C>T)
c.757-73C>T (n.757-73C>T)
c.315C>T (p.His105=)
 dbSNP
5g.112819197A>CCA16023854APCc.1165A>C (p.Asn389His)
n.1221A>C
c.*1171A>C (n.*1171A>C)
c.1111A>C (p.Asn371His)
c.*487A>C (n.*487A>C)
c.1195A>C (p.Asn399His)
c.1090A>C (p.Asn364His)
c.1081A>C (p.Asn361His)
c.988A>C (p.Asn330His)
c.964-72A>C (n.964-72A>C)
c.934-72A>C (n.934-72A>C)
c.859-72A>C (n.859-72A>C)
c.757-72A>C (n.757-72A>C)
c.316A>C (p.Asn106His)
5g.112819197A>GCA16023855APCc.1165A>G (p.Asn389Asp)
n.1221A>G
c.*1171A>G (n.*1171A>G)
c.1111A>G (p.Asn371Asp)
c.*487A>G (n.*487A>G)
c.1195A>G (p.Asn399Asp)
c.1090A>G (p.Asn364Asp)
c.1081A>G (p.Asn361Asp)
c.988A>G (p.Asn330Asp)
c.964-72A>G (n.964-72A>G)
c.934-72A>G (n.934-72A>G)
c.859-72A>G (n.859-72A>G)
c.757-72A>G (n.757-72A>G)
c.316A>G (p.Asn106Asp)
 ClinVar dbSNP
5g.112819197A>TCA16023856APCc.1165A>T (p.Asn389Tyr)
n.1221A>T
c.*1171A>T (n.*1171A>T)
c.1111A>T (p.Asn371Tyr)
c.*487A>T (n.*487A>T)
c.1195A>T (p.Asn399Tyr)
c.1090A>T (p.Asn364Tyr)
c.1081A>T (p.Asn361Tyr)
c.988A>T (p.Asn330Tyr)
c.964-72A>T (n.964-72A>T)
c.934-72A>T (n.934-72A>T)
c.859-72A>T (n.859-72A>T)
c.757-72A>T (n.757-72A>T)
c.316A>T (p.Asn106Tyr)
 dbSNP
5g.112819197_112819198insCACCCAACCA2767942865APCc.1165_1166insCACCCAAC (p.Asn389ThrfsTer?)
n.1221_1222insCACCCAAC
c.*1171_*1172insCACCCAAC (n.*1171_*1172insCACCCAAC)
c.1111_1112insCACCCAAC (p.Asn371ThrfsTer?)
c.*487_*488insCACCCAAC (n.*487_*488insCACCCAAC)
c.1195_1196insCACCCAAC (p.Asn399ThrfsTer?)
c.1090_1091insCACCCAAC (p.Asn364ThrfsTer?)
c.1081_1082insCACCCAAC (p.Asn361ThrfsTer?)
c.988_989insCACCCAAC (p.Asn330ThrfsTer?)
c.964-72_964-71insCACCCAAC (n.964-72_964-71insCACCCAAC)
c.934-72_934-71insCACCCAAC (n.934-72_934-71insCACCCAAC)
c.859-72_859-71insCACCCAAC (n.859-72_859-71insCACCCAAC)
c.757-72_757-71insCACCCAAC (n.757-72_757-71insCACCCAAC)
c.316_317insCACCCAAC (p.Asn106ThrfsTer?)
5g.112819198A=CA1573492491APCc.1166A= (p.Asn389=)
n.1222A=
c.*1172A= (n.*1172A=)
c.1112A= (p.Asn371=)
c.*488A= (n.*488A=)
c.1196A= (p.Asn399=)
c.1091A= (p.Asn364=)
c.1082A= (p.Asn361=)
c.989A= (p.Asn330=)
c.964-71A= (n.964-71A=)
c.934-71A= (n.934-71A=)
c.859-71A= (n.859-71A=)
c.757-71A= (n.757-71A=)
c.317A= (p.Asn106=)
5g.112819198A>CCA16023857APCc.1166A>C (p.Asn389Thr)
n.1222A>C
c.*1172A>C (n.*1172A>C)
c.1112A>C (p.Asn371Thr)
c.*488A>C (n.*488A>C)
c.1196A>C (p.Asn399Thr)
c.1091A>C (p.Asn364Thr)
c.1082A>C (p.Asn361Thr)
c.989A>C (p.Asn330Thr)
c.964-71A>C (n.964-71A>C)
c.934-71A>C (n.934-71A>C)
c.859-71A>C (n.859-71A>C)
c.757-71A>C (n.757-71A>C)
c.317A>C (p.Asn106Thr)
 dbSNP
5g.112819198A>GCA16023858APCc.1166A>G (p.Asn389Ser)
n.1222A>G
c.*1172A>G (n.*1172A>G)
c.1112A>G (p.Asn371Ser)
c.*488A>G (n.*488A>G)
c.1196A>G (p.Asn399Ser)
c.1091A>G (p.Asn364Ser)
c.1082A>G (p.Asn361Ser)
c.989A>G (p.Asn330Ser)
c.964-71A>G (n.964-71A>G)
c.934-71A>G (n.934-71A>G)
c.859-71A>G (n.859-71A>G)
c.757-71A>G (n.757-71A>G)
c.317A>G (p.Asn106Ser)
 dbSNP gnomAD v4
5g.112819198A>TCA16023859APCc.1166A>T (p.Asn389Ile)
n.1222A>T
c.*1172A>T (n.*1172A>T)
c.1112A>T (p.Asn371Ile)
c.*488A>T (n.*488A>T)
c.1196A>T (p.Asn399Ile)
c.1091A>T (p.Asn364Ile)
c.1082A>T (p.Asn361Ile)
c.989A>T (p.Asn330Ile)
c.964-71A>T (n.964-71A>T)
c.934-71A>T (n.934-71A>T)
c.859-71A>T (n.859-71A>T)
c.757-71A>T (n.757-71A>T)
c.317A>T (p.Asn106Ile)
 dbSNP
5g.112819199C>ACA16023860APCc.1167C>A (p.Asn389Lys)
n.1223C>A
c.*1173C>A (n.*1173C>A)
c.1113C>A (p.Asn371Lys)
c.*489C>A (n.*489C>A)
c.1197C>A (p.Asn399Lys)
c.1092C>A (p.Asn364Lys)
c.1083C>A (p.Asn361Lys)
c.990C>A (p.Asn330Lys)
c.964-70C>A (n.964-70C>A)
c.934-70C>A (n.934-70C>A)
c.859-70C>A (n.859-70C>A)
c.757-70C>A (n.757-70C>A)
c.318C>A (p.Asn106Lys)
 dbSNP
5g.112819199C=CA1573492502APCc.1167C= (p.Asn389=)
n.1223C=
c.*1173C= (n.*1173C=)
c.1113C= (p.Asn371=)
c.*489C= (n.*489C=)
c.1197C= (p.Asn399=)
c.1092C= (p.Asn364=)
c.1083C= (p.Asn361=)
c.990C= (p.Asn330=)
c.964-70C= (n.964-70C=)
c.934-70C= (n.934-70C=)
c.859-70C= (n.859-70C=)
c.757-70C= (n.757-70C=)
c.318C= (p.Asn106=)
5g.112819199C>GCA16023861APCc.1167C>G (p.Asn389Lys)
n.1223C>G
c.*1173C>G (n.*1173C>G)
c.1113C>G (p.Asn371Lys)
c.*489C>G (n.*489C>G)
c.1197C>G (p.Asn399Lys)
c.1092C>G (p.Asn364Lys)
c.1083C>G (p.Asn361Lys)
c.990C>G (p.Asn330Lys)
c.964-70C>G (n.964-70C>G)
c.934-70C>G (n.934-70C>G)
c.859-70C>G (n.859-70C>G)
c.757-70C>G (n.757-70C>G)
c.318C>G (p.Asn106Lys)
 dbSNP
5g.112819199C>TCA445960324APCc.1167C>T (p.Asn389=)
n.1223C>T
c.*1173C>T (n.*1173C>T)
c.1113C>T (p.Asn371=)
c.*489C>T (n.*489C>T)
c.1197C>T (p.Asn399=)
c.1092C>T (p.Asn364=)
c.1083C>T (p.Asn361=)
c.990C>T (p.Asn330=)
c.964-70C>T (n.964-70C>T)
c.934-70C>T (n.934-70C>T)
c.859-70C>T (n.859-70C>T)
c.757-70C>T (n.757-70C>T)
c.318C>T (p.Asn106=)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112819202_112819204delCA2580613621APCc.1170_1172del (p.Ile391del)
n.1226_1228del
c.*1176_*1178del (n.*1176_*1178del)
c.1116_1118del (p.Ile373del)
c.*492_*494del (n.*492_*494del)
c.1200_1202del (p.Ile401del)
c.1095_1097del (p.Ile366del)
c.1086_1088del (p.Ile363del)
c.993_995del (p.Ile332del)
c.964-67_964-65del (n.964-67_964-65del)
c.934-67_934-65del (n.934-67_934-65del)
c.859-67_859-65del (n.859-67_859-65del)
c.757-67_757-65del (n.757-67_757-65del)
c.321_323del (p.Ile108del)
 ClinVar
5g.112819200delCA2582341255APCc.1168del (p.Ile390SerfsTer?)
n.1224del
c.*1174del (n.*1174del)
c.1114del (p.Ile372SerfsTer?)
c.*490del (n.*490del)
c.1198del (p.Ile400SerfsTer?)
c.1093del (p.Ile365SerfsTer?)
c.1084del (p.Ile362SerfsTer?)
c.991del (p.Ile331SerfsTer?)
c.964-69del (n.964-69del)
c.934-69del (n.934-69del)
c.859-69del (n.859-69del)
c.757-69del (n.757-69del)
c.319del (p.Ile107SerfsTer?)
 ClinVar
5g.112819200A=CA1573492508APCc.1168A= (p.Ile390=)
n.1224A=
c.*1174A= (n.*1174A=)
c.1114A= (p.Ile372=)
c.*490A= (n.*490A=)
c.1198A= (p.Ile400=)
c.1093A= (p.Ile365=)
c.1084A= (p.Ile362=)
c.991A= (p.Ile331=)
c.964-69A= (n.964-69A=)
c.934-69A= (n.934-69A=)
c.859-69A= (n.859-69A=)
c.757-69A= (n.757-69A=)
c.319A= (p.Ile107=)
5g.112819200A>CCA16023862APCc.1168A>C (p.Ile390Leu)
n.1224A>C
c.*1174A>C (n.*1174A>C)
c.1114A>C (p.Ile372Leu)
c.*490A>C (n.*490A>C)
c.1198A>C (p.Ile400Leu)
c.1093A>C (p.Ile365Leu)
c.1084A>C (p.Ile362Leu)
c.991A>C (p.Ile331Leu)
c.964-69A>C (n.964-69A>C)
c.934-69A>C (n.934-69A>C)
c.859-69A>C (n.859-69A>C)
c.757-69A>C (n.757-69A>C)
c.319A>C (p.Ile107Leu)
5g.112819200A>GCA16023863APCc.1168A>G (p.Ile390Val)
n.1224A>G
c.*1174A>G (n.*1174A>G)
c.1114A>G (p.Ile372Val)
c.*490A>G (n.*490A>G)
c.1198A>G (p.Ile400Val)
c.1093A>G (p.Ile365Val)
c.1084A>G (p.Ile362Val)
c.991A>G (p.Ile331Val)
c.964-69A>G (n.964-69A>G)
c.934-69A>G (n.934-69A>G)
c.859-69A>G (n.859-69A>G)
c.757-69A>G (n.757-69A>G)
c.319A>G (p.Ile107Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112819200A>TCA16023864APCc.1168A>T (p.Ile390Phe)
n.1224A>T
c.*1174A>T (n.*1174A>T)
c.1114A>T (p.Ile372Phe)
c.*490A>T (n.*490A>T)
c.1198A>T (p.Ile400Phe)
c.1093A>T (p.Ile365Phe)
c.1084A>T (p.Ile362Phe)
c.991A>T (p.Ile331Phe)
c.964-69A>T (n.964-69A>T)
c.934-69A>T (n.934-69A>T)
c.859-69A>T (n.859-69A>T)
c.757-69A>T (n.757-69A>T)
c.319A>T (p.Ile107Phe)
 dbSNP
5g.112819201T>ACA16023865APCc.1169T>A (p.Ile390Asn)
n.1225T>A
c.*1175T>A (n.*1175T>A)
c.1115T>A (p.Ile372Asn)
c.*491T>A (n.*491T>A)
c.1199T>A (p.Ile400Asn)
c.1094T>A (p.Ile365Asn)
c.1085T>A (p.Ile362Asn)
c.992T>A (p.Ile331Asn)
c.964-68T>A (n.964-68T>A)
c.934-68T>A (n.934-68T>A)
c.859-68T>A (n.859-68T>A)
c.757-68T>A (n.757-68T>A)
c.320T>A (p.Ile107Asn)
 dbSNP
5g.112819201T>CCA16023866APCc.1169T>C (p.Ile390Thr)
n.1225T>C
c.*1175T>C (n.*1175T>C)
c.1115T>C (p.Ile372Thr)
c.*491T>C (n.*491T>C)
c.1199T>C (p.Ile400Thr)
c.1094T>C (p.Ile365Thr)
c.1085T>C (p.Ile362Thr)
c.992T>C (p.Ile331Thr)
c.964-68T>C (n.964-68T>C)
c.934-68T>C (n.934-68T>C)
c.859-68T>C (n.859-68T>C)
c.757-68T>C (n.757-68T>C)
c.320T>C (p.Ile107Thr)
 ClinVar dbSNP
5g.112819201T>GCA16023867APCc.1169T>G (p.Ile390Ser)
n.1225T>G
c.*1175T>G (n.*1175T>G)
c.1115T>G (p.Ile372Ser)
c.*491T>G (n.*491T>G)
c.1199T>G (p.Ile400Ser)
c.1094T>G (p.Ile365Ser)
c.1085T>G (p.Ile362Ser)
c.992T>G (p.Ile331Ser)
c.964-68T>G (n.964-68T>G)
c.934-68T>G (n.934-68T>G)
c.859-68T>G (n.859-68T>G)
c.757-68T>G (n.757-68T>G)
c.320T>G (p.Ile107Ser)
5g.112819201T=CA1573492514APCc.1169T= (p.Ile390=)
n.1225T=
c.*1175T= (n.*1175T=)
c.1115T= (p.Ile372=)
c.*491T= (n.*491T=)
c.1199T= (p.Ile400=)
c.1094T= (p.Ile365=)
c.1085T= (p.Ile362=)
c.992T= (p.Ile331=)
c.964-68T= (n.964-68T=)
c.934-68T= (n.934-68T=)
c.859-68T= (n.859-68T=)
c.757-68T= (n.757-68T=)
c.320T= (p.Ile107=)
5g.112819201_112819202delinsAGCA1573492521APCc.1169_1170delinsAG (p.Ile390Lys)
n.1225_1226delinsAG
c.*1175_*1176delinsAG (n.*1175_*1176delinsAG)
c.1115_1116delinsAG (p.Ile372Lys)
c.*491_*492delinsAG (n.*491_*492delinsAG)
c.1199_1200delinsAG (p.Ile400Lys)
c.1094_1095delinsAG (p.Ile365Lys)
c.1085_1086delinsAG (p.Ile362Lys)
c.992_993delinsAG (p.Ile331Lys)
c.964-68_964-67delinsAG (n.964-68_964-67delinsAG)
c.934-68_934-67delinsAG (n.934-68_934-67delinsAG)
c.859-68_859-67delinsAG (n.859-68_859-67delinsAG)
c.757-68_757-67delinsAG (n.757-68_757-67delinsAG)
c.320_321delinsAG (p.Ile107Lys)
 ClinVar dbSNP
5g.112819201_112819202delinsTCCA1573492517APCc.1169_1170delinsTC (p.Ile390=)
n.1225_1226delinsTC
c.*1175_*1176delinsTC (n.*1175_*1176delinsTC)
c.1115_1116delinsTC (p.Ile372=)
c.*491_*492delinsTC (n.*491_*492delinsTC)
c.1199_1200delinsTC (p.Ile400=)
c.1094_1095delinsTC (p.Ile365=)
c.1085_1086delinsTC (p.Ile362=)
c.992_993delinsTC (p.Ile331=)
c.964-68_964-67delinsTC (n.964-68_964-67delinsTC)
c.934-68_934-67delinsTC (n.934-68_934-67delinsTC)
c.859-68_859-67delinsTC (n.859-68_859-67delinsTC)
c.757-68_757-67delinsTC (n.757-68_757-67delinsTC)
c.320_321delinsTC (p.Ile107=)
5g.112819202C>ACA445960325APCc.1170C>A (p.Ile390=)
n.1226C>A
c.*1176C>A (n.*1176C>A)
c.1116C>A (p.Ile372=)
c.*492C>A (n.*492C>A)
c.1200C>A (p.Ile400=)
c.1095C>A (p.Ile365=)
c.1086C>A (p.Ile362=)
c.993C>A (p.Ile331=)
c.964-67C>A (n.964-67C>A)
c.934-67C>A (n.934-67C>A)
c.859-67C>A (n.859-67C>A)
c.757-67C>A (n.757-67C>A)
c.321C>A (p.Ile107=)
5g.112819202C>GCA16023868APCc.1170C>G (p.Ile390Met)
n.1226C>G
c.*1176C>G (n.*1176C>G)
c.1116C>G (p.Ile372Met)
c.*492C>G (n.*492C>G)
c.1200C>G (p.Ile400Met)
c.1095C>G (p.Ile365Met)
c.1086C>G (p.Ile362Met)
c.993C>G (p.Ile331Met)
c.964-67C>G (n.964-67C>G)
c.934-67C>G (n.934-67C>G)
c.859-67C>G (n.859-67C>G)
c.757-67C>G (n.757-67C>G)
c.321C>G (p.Ile107Met)
 dbSNP
5g.112819202C>TCA445960326APCc.1170C>T (p.Ile390=)
n.1226C>T
c.*1176C>T (n.*1176C>T)
c.1116C>T (p.Ile372=)
c.*492C>T (n.*492C>T)
c.1200C>T (p.Ile400=)
c.1095C>T (p.Ile365=)
c.1086C>T (p.Ile362=)
c.993C>T (p.Ile331=)
c.964-67C>T (n.964-67C>T)
c.934-67C>T (n.934-67C>T)
c.859-67C>T (n.859-67C>T)
c.757-67C>T (n.757-67C>T)
c.321C>T (p.Ile107=)
 dbSNP
5g.112819203delCA2695202713APCc.1171del (p.Ile391PhefsTer?)
n.1227del
c.*1177del (n.*1177del)
c.1117del (p.Ile373PhefsTer?)
c.*493del (n.*493del)
c.1201del (p.Ile401PhefsTer?)
c.1096del (p.Ile366PhefsTer?)
c.1087del (p.Ile363PhefsTer?)
c.994del (p.Ile332PhefsTer?)
c.964-66del (n.964-66del)
c.934-66del (n.934-66del)
c.859-66del (n.859-66del)
c.757-66del (n.757-66del)
c.322del (p.Ile108PhefsTer?)
5g.112819203A=CA1573492539APCc.1171A= (p.Ile391=)
n.1227A=
c.*1177A= (n.*1177A=)
c.1117A= (p.Ile373=)
c.*493A= (n.*493A=)
c.1201A= (p.Ile401=)
c.1096A= (p.Ile366=)
c.1087A= (p.Ile363=)
c.994A= (p.Ile332=)
c.964-66A= (n.964-66A=)
c.934-66A= (n.934-66A=)
c.859-66A= (n.859-66A=)
c.757-66A= (n.757-66A=)
c.322A= (p.Ile108=)
5g.112819203A>CCA16023869APCc.1171A>C (p.Ile391Leu)
n.1227A>C
c.*1177A>C (n.*1177A>C)
c.1117A>C (p.Ile373Leu)
c.*493A>C (n.*493A>C)
c.1201A>C (p.Ile401Leu)
c.1096A>C (p.Ile366Leu)
c.1087A>C (p.Ile363Leu)
c.994A>C (p.Ile332Leu)
c.964-66A>C (n.964-66A>C)
c.934-66A>C (n.934-66A>C)
c.859-66A>C (n.859-66A>C)
c.757-66A>C (n.757-66A>C)
c.322A>C (p.Ile108Leu)
 ClinVar dbSNP gnomAD v4
5g.112819203A>GCA004069APCc.1171A>G (p.Ile391Val)
n.1227A>G
c.*1177A>G (n.*1177A>G)
c.1117A>G (p.Ile373Val)
c.*493A>G (n.*493A>G)
c.1201A>G (p.Ile401Val)
c.1096A>G (p.Ile366Val)
c.1087A>G (p.Ile363Val)
c.994A>G (p.Ile332Val)
c.964-66A>G (n.964-66A>G)
c.934-66A>G (n.934-66A>G)
c.859-66A>G (n.859-66A>G)
c.757-66A>G (n.757-66A>G)
c.322A>G (p.Ile108Val)
 ClinVar dbSNP
5g.112819203A>TCA16023870APCc.1171A>T (p.Ile391Phe)
n.1227A>T
c.*1177A>T (n.*1177A>T)
c.1117A>T (p.Ile373Phe)
c.*493A>T (n.*493A>T)
c.1201A>T (p.Ile401Phe)
c.1096A>T (p.Ile366Phe)
c.1087A>T (p.Ile363Phe)
c.994A>T (p.Ile332Phe)
c.964-66A>T (n.964-66A>T)
c.934-66A>T (n.934-66A>T)
c.859-66A>T (n.859-66A>T)
c.757-66A>T (n.757-66A>T)
c.322A>T (p.Ile108Phe)
 ClinVar dbSNP
5g.112819204T>ACA16023871APCc.1172T>A (p.Ile391Asn)
n.1228T>A
c.*1178T>A (n.*1178T>A)
c.1118T>A (p.Ile373Asn)
c.*494T>A (n.*494T>A)
c.1202T>A (p.Ile401Asn)
c.1097T>A (p.Ile366Asn)
c.1088T>A (p.Ile363Asn)
c.995T>A (p.Ile332Asn)
c.964-65T>A (n.964-65T>A)
c.934-65T>A (n.934-65T>A)
c.859-65T>A (n.859-65T>A)
c.757-65T>A (n.757-65T>A)
c.323T>A (p.Ile108Asn)
5g.112819204T>CCA16023872APCc.1172T>C (p.Ile391Thr)
n.1228T>C
c.*1178T>C (n.*1178T>C)
c.1118T>C (p.Ile373Thr)
c.*494T>C (n.*494T>C)
c.1202T>C (p.Ile401Thr)
c.1097T>C (p.Ile366Thr)
c.1088T>C (p.Ile363Thr)
c.995T>C (p.Ile332Thr)
c.964-65T>C (n.964-65T>C)
c.934-65T>C (n.934-65T>C)
c.859-65T>C (n.859-65T>C)
c.757-65T>C (n.757-65T>C)
c.323T>C (p.Ile108Thr)
 ClinVar dbSNP
5g.112819204T>GCA16023873APCc.1172T>G (p.Ile391Ser)
n.1228T>G
c.*1178T>G (n.*1178T>G)
c.1118T>G (p.Ile373Ser)
c.*494T>G (n.*494T>G)
c.1202T>G (p.Ile401Ser)
c.1097T>G (p.Ile366Ser)
c.1088T>G (p.Ile363Ser)
c.995T>G (p.Ile332Ser)
c.964-65T>G (n.964-65T>G)
c.934-65T>G (n.934-65T>G)
c.859-65T>G (n.859-65T>G)
c.757-65T>G (n.757-65T>G)
c.323T>G (p.Ile108Ser)
 ClinVar
5g.112819204T=CA1573492545APCc.1172T= (p.Ile391=)
n.1228T=
c.*1178T= (n.*1178T=)
c.1118T= (p.Ile373=)
c.*494T= (n.*494T=)
c.1202T= (p.Ile401=)
c.1097T= (p.Ile366=)
c.1088T= (p.Ile363=)
c.995T= (p.Ile332=)
c.964-65T= (n.964-65T=)
c.934-65T= (n.934-65T=)
c.859-65T= (n.859-65T=)
c.757-65T= (n.757-65T=)
c.323T= (p.Ile108=)
5g.112819205T>ACA445960327APCc.1173T>A (p.Ile391=)
n.1229T>A
c.*1179T>A (n.*1179T>A)
c.1119T>A (p.Ile373=)
c.*495T>A (n.*495T>A)
c.1203T>A (p.Ile401=)
c.1098T>A (p.Ile366=)
c.1089T>A (p.Ile363=)
c.996T>A (p.Ile332=)
c.964-64T>A (n.964-64T>A)
c.934-64T>A (n.934-64T>A)
c.859-64T>A (n.859-64T>A)
c.757-64T>A (n.757-64T>A)
c.324T>A (p.Ile108=)
 dbSNP
5g.112819205T>CCA445960328APCc.1173T>C (p.Ile391=)
n.1229T>C
c.*1179T>C (n.*1179T>C)
c.1119T>C (p.Ile373=)
c.*495T>C (n.*495T>C)
c.1203T>C (p.Ile401=)
c.1098T>C (p.Ile366=)
c.1089T>C (p.Ile363=)
c.996T>C (p.Ile332=)
c.964-64T>C (n.964-64T>C)
c.934-64T>C (n.934-64T>C)
c.859-64T>C (n.859-64T>C)
c.757-64T>C (n.757-64T>C)
c.324T>C (p.Ile108=)
5g.112819205T>GCA16023874APCc.1173T>G (p.Ile391Met)
n.1229T>G
c.*1179T>G (n.*1179T>G)
c.1119T>G (p.Ile373Met)
c.*495T>G (n.*495T>G)
c.1203T>G (p.Ile401Met)
c.1098T>G (p.Ile366Met)
c.1089T>G (p.Ile363Met)
c.996T>G (p.Ile332Met)
c.964-64T>G (n.964-64T>G)
c.934-64T>G (n.934-64T>G)
c.859-64T>G (n.859-64T>G)
c.757-64T>G (n.757-64T>G)
c.324T>G (p.Ile108Met)
 dbSNP
5g.112819206C>ACA16023875APCc.1174C>A (p.His392Asn)
n.1230C>A
c.*1180C>A (n.*1180C>A)
c.1120C>A (p.His374Asn)
c.*496C>A (n.*496C>A)
c.1204C>A (p.His402Asn)
c.1099C>A (p.His367Asn)
c.1090C>A (p.His364Asn)
c.997C>A (p.His333Asn)
c.964-63C>A (n.964-63C>A)
c.934-63C>A (n.934-63C>A)
c.859-63C>A (n.859-63C>A)
c.757-63C>A (n.757-63C>A)
c.325C>A (p.His109Asn)
 ClinVar dbSNP
5g.112819206C=CA1573492558APCc.1174C= (p.His392=)
n.1230C=
c.*1180C= (n.*1180C=)
c.1120C= (p.His374=)
c.*496C= (n.*496C=)
c.1204C= (p.His402=)
c.1099C= (p.His367=)
c.1090C= (p.His364=)
c.997C= (p.His333=)
c.964-63C= (n.964-63C=)
c.934-63C= (n.934-63C=)
c.859-63C= (n.859-63C=)
c.757-63C= (n.757-63C=)
c.325C= (p.His109=)
5g.112819206C>GCA16023876APCc.1174C>G (p.His392Asp)
n.1230C>G
c.*1180C>G (n.*1180C>G)
c.1120C>G (p.His374Asp)
c.*496C>G (n.*496C>G)
c.1204C>G (p.His402Asp)
c.1099C>G (p.His367Asp)
c.1090C>G (p.His364Asp)
c.997C>G (p.His333Asp)
c.964-63C>G (n.964-63C>G)
c.934-63C>G (n.934-63C>G)
c.859-63C>G (n.859-63C>G)
c.757-63C>G (n.757-63C>G)
c.325C>G (p.His109Asp)
 dbSNP
5g.112819206C>TCA16023877APCc.1174C>T (p.His392Tyr)
n.1230C>T
c.*1180C>T (n.*1180C>T)
c.1120C>T (p.His374Tyr)
c.*496C>T (n.*496C>T)
c.1204C>T (p.His402Tyr)
c.1099C>T (p.His367Tyr)
c.1090C>T (p.His364Tyr)
c.997C>T (p.His333Tyr)
c.964-63C>T (n.964-63C>T)
c.934-63C>T (n.934-63C>T)
c.859-63C>T (n.859-63C>T)
c.757-63C>T (n.757-63C>T)
c.325C>T (p.His109Tyr)
 ClinVar dbSNP
5g.112819207A=CA1573492571APCc.1175A= (p.His392=)
n.1231A=
c.*1181A= (n.*1181A=)
c.1121A= (p.His374=)
c.*497A= (n.*497A=)
c.1205A= (p.His402=)
c.1100A= (p.His367=)
c.1091A= (p.His364=)
c.998A= (p.His333=)
c.964-62A= (n.964-62A=)
c.934-62A= (n.934-62A=)
c.859-62A= (n.859-62A=)
c.757-62A= (n.757-62A=)
c.326A= (p.His109=)
5g.112819207A>CCA16023878APCc.1175A>C (p.His392Pro)
n.1231A>C
c.*1181A>C (n.*1181A>C)
c.1121A>C (p.His374Pro)
c.*497A>C (n.*497A>C)
c.1205A>C (p.His402Pro)
c.1100A>C (p.His367Pro)
c.1091A>C (p.His364Pro)
c.998A>C (p.His333Pro)
c.964-62A>C (n.964-62A>C)
c.934-62A>C (n.934-62A>C)
c.859-62A>C (n.859-62A>C)
c.757-62A>C (n.757-62A>C)
c.326A>C (p.His109Pro)
 dbSNP
5g.112819207A>GCA10578307APCc.1175A>G (p.His392Arg)
n.1231A>G
c.*1181A>G (n.*1181A>G)
c.1121A>G (p.His374Arg)
c.*497A>G (n.*497A>G)
c.1205A>G (p.His402Arg)
c.1100A>G (p.His367Arg)
c.1091A>G (p.His364Arg)
c.998A>G (p.His333Arg)
c.964-62A>G (n.964-62A>G)
c.934-62A>G (n.934-62A>G)
c.859-62A>G (n.859-62A>G)
c.757-62A>G (n.757-62A>G)
c.326A>G (p.His109Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112819207A>TCA16023879APCc.1175A>T (p.His392Leu)
n.1231A>T
c.*1181A>T (n.*1181A>T)
c.1121A>T (p.His374Leu)
c.*497A>T (n.*497A>T)
c.1205A>T (p.His402Leu)
c.1100A>T (p.His367Leu)
c.1091A>T (p.His364Leu)
c.998A>T (p.His333Leu)
c.964-62A>T (n.964-62A>T)
c.934-62A>T (n.934-62A>T)
c.859-62A>T (n.859-62A>T)
c.757-62A>T (n.757-62A>T)
c.326A>T (p.His109Leu)
 dbSNP
5g.112819208C>ACA16023880APCc.1176C>A (p.His392Gln)
n.1232C>A
c.*1182C>A (n.*1182C>A)
c.1122C>A (p.His374Gln)
c.*498C>A (n.*498C>A)
c.1206C>A (p.His402Gln)
c.1101C>A (p.His367Gln)
c.1092C>A (p.His364Gln)
c.999C>A (p.His333Gln)
c.964-61C>A (n.964-61C>A)
c.934-61C>A (n.934-61C>A)
c.859-61C>A (n.859-61C>A)
c.757-61C>A (n.757-61C>A)
c.327C>A (p.His109Gln)
5g.112819208C=CA1573492586APCc.1176C= (p.His392=)
n.1232C=
c.*1182C= (n.*1182C=)
c.1122C= (p.His374=)
c.*498C= (n.*498C=)
c.1206C= (p.His402=)
c.1101C= (p.His367=)
c.1092C= (p.His364=)
c.999C= (p.His333=)
c.964-61C= (n.964-61C=)
c.934-61C= (n.934-61C=)
c.859-61C= (n.859-61C=)
c.757-61C= (n.757-61C=)
c.327C= (p.His109=)
5g.112819208C>GCA16023881APCc.1176C>G (p.His392Gln)
n.1232C>G
c.*1182C>G (n.*1182C>G)
c.1122C>G (p.His374Gln)
c.*498C>G (n.*498C>G)
c.1206C>G (p.His402Gln)
c.1101C>G (p.His367Gln)
c.1092C>G (p.His364Gln)
c.999C>G (p.His333Gln)
c.964-61C>G (n.964-61C>G)
c.934-61C>G (n.934-61C>G)
c.859-61C>G (n.859-61C>G)
c.757-61C>G (n.757-61C>G)
c.327C>G (p.His109Gln)
 ClinVar dbSNP gnomAD v4
5g.112819208C>TCA445960329APCc.1176C>T (p.His392=)
n.1232C>T
c.*1182C>T (n.*1182C>T)
c.1122C>T (p.His374=)
c.*498C>T (n.*498C>T)
c.1206C>T (p.His402=)
c.1101C>T (p.His367=)
c.1092C>T (p.His364=)
c.999C>T (p.His333=)
c.964-61C>T (n.964-61C>T)
c.934-61C>T (n.934-61C>T)
c.859-61C>T (n.859-61C>T)
c.757-61C>T (n.757-61C>T)
c.327C>T (p.His109=)
 ClinVar dbSNP
5g.112819209T>ACA16023882APCc.1177T>A (p.Ser393Thr)
n.1233T>A
c.*1183T>A (n.*1183T>A)
c.1123T>A (p.Ser375Thr)
c.*499T>A (n.*499T>A)
c.1207T>A (p.Ser403Thr)
c.1102T>A (p.Ser368Thr)
c.1093T>A (p.Ser365Thr)
c.1000T>A (p.Ser334Thr)
c.964-60T>A (n.964-60T>A)
c.934-60T>A (n.934-60T>A)
c.859-60T>A (n.859-60T>A)
c.757-60T>A (n.757-60T>A)
c.328T>A (p.Ser110Thr)
 dbSNP
5g.112819209T>CCA16023883APCc.1177T>C (p.Ser393Pro)
n.1233T>C
c.*1183T>C (n.*1183T>C)
c.1123T>C (p.Ser375Pro)
c.*499T>C (n.*499T>C)
c.1207T>C (p.Ser403Pro)
c.1102T>C (p.Ser368Pro)
c.1093T>C (p.Ser365Pro)
c.1000T>C (p.Ser334Pro)
c.964-60T>C (n.964-60T>C)
c.934-60T>C (n.934-60T>C)
c.859-60T>C (n.859-60T>C)
c.757-60T>C (n.757-60T>C)
c.328T>C (p.Ser110Pro)
 ClinVar dbSNP gnomAD v4
5g.112819209T>GCA16023884APCc.1177T>G (p.Ser393Ala)
n.1233T>G
c.*1183T>G (n.*1183T>G)
c.1123T>G (p.Ser375Ala)
c.*499T>G (n.*499T>G)
c.1207T>G (p.Ser403Ala)
c.1102T>G (p.Ser368Ala)
c.1093T>G (p.Ser365Ala)
c.1000T>G (p.Ser334Ala)
c.964-60T>G (n.964-60T>G)
c.934-60T>G (n.934-60T>G)
c.859-60T>G (n.859-60T>G)
c.757-60T>G (n.757-60T>G)
c.328T>G (p.Ser110Ala)
 gnomAD v4
5g.112819209T=CA1573492597APCc.1177T= (p.Ser393=)
n.1233T=
c.*1183T= (n.*1183T=)
c.1123T= (p.Ser375=)
c.*499T= (n.*499T=)
c.1207T= (p.Ser403=)
c.1102T= (p.Ser368=)
c.1093T= (p.Ser365=)
c.1000T= (p.Ser334=)
c.964-60T= (n.964-60T=)
c.934-60T= (n.934-60T=)
c.859-60T= (n.859-60T=)
c.757-60T= (n.757-60T=)
c.328T= (p.Ser110=)
5g.112819209dupCA658760535APCc.1177dup (p.Ser393PhefsTer4)
n.1233dup
c.*1183dup (n.*1183dup)
c.1123dup (p.Ser375PhefsTer4)
c.*499dup (n.*499dup)
c.1207dup (p.Ser403PhefsTer4)
c.1102dup (p.Ser368PhefsTer4)
c.1093dup (p.Ser365PhefsTer4)
c.1000dup (p.Ser334PhefsTer4)
c.964-60dup (n.964-60dup)
c.934-60dup (n.934-60dup)
c.859-60dup (n.859-60dup)
c.757-60dup (n.757-60dup)
c.328dup (p.Ser110PhefsTer4)
 ClinVar dbSNP
5g.112819210C>ACA16023885APCc.1178C>A (p.Ser393Ter)
n.1234C>A
c.*1184C>A (n.*1184C>A)
c.1124C>A (p.Ser375Ter)
c.*500C>A (n.*500C>A)
c.1208C>A (p.Ser403Ter)
c.1103C>A (p.Ser368Ter)
c.1094C>A (p.Ser365Ter)
c.1001C>A (p.Ser334Ter)
c.964-59C>A (n.964-59C>A)
c.934-59C>A (n.934-59C>A)
c.859-59C>A (n.859-59C>A)
c.757-59C>A (n.757-59C>A)
c.329C>A (p.Ser110Ter)
 ClinVar dbSNP
5g.112819210C=CA1573492614APCc.1178C= (p.Ser393=)
n.1234C=
c.*1184C= (n.*1184C=)
c.1124C= (p.Ser375=)
c.*500C= (n.*500C=)
c.1208C= (p.Ser403=)
c.1103C= (p.Ser368=)
c.1094C= (p.Ser365=)
c.1001C= (p.Ser334=)
c.964-59C= (n.964-59C=)
c.934-59C= (n.934-59C=)
c.859-59C= (n.859-59C=)
c.757-59C= (n.757-59C=)
c.329C= (p.Ser110=)
5g.112819210C>GCA16023886APCc.1178C>G (p.Ser393Ter)
n.1234C>G
c.*1184C>G (n.*1184C>G)
c.1124C>G (p.Ser375Ter)
c.*500C>G (n.*500C>G)
c.1208C>G (p.Ser403Ter)
c.1103C>G (p.Ser368Ter)
c.1094C>G (p.Ser365Ter)
c.1001C>G (p.Ser334Ter)
c.964-59C>G (n.964-59C>G)
c.934-59C>G (n.934-59C>G)
c.859-59C>G (n.859-59C>G)
c.757-59C>G (n.757-59C>G)
c.329C>G (p.Ser110Ter)
 ClinVar dbSNP
5g.112819210C>TCA16023887APCc.1178C>T (p.Ser393Leu)
n.1234C>T
c.*1184C>T (n.*1184C>T)
c.1124C>T (p.Ser375Leu)
c.*500C>T (n.*500C>T)
c.1208C>T (p.Ser403Leu)
c.1103C>T (p.Ser368Leu)
c.1094C>T (p.Ser365Leu)
c.1001C>T (p.Ser334Leu)
c.964-59C>T (n.964-59C>T)
c.934-59C>T (n.934-59C>T)
c.859-59C>T (n.859-59C>T)
c.757-59C>T (n.757-59C>T)
c.329C>T (p.Ser110Leu)
 dbSNP gnomAD v4
5g.112819212_112819213delCA658760537APCc.1180_1181del (p.Gln394AlafsTer2)
n.1236_1237del
c.*1186_*1187del (n.*1186_*1187del)
c.1126_1127del (p.Gln376AlafsTer2)
c.*502_*503del (n.*502_*503del)
c.1210_1211del (p.Gln404AlafsTer2)
c.1105_1106del (p.Gln369AlafsTer2)
c.1096_1097del (p.Gln366AlafsTer2)
c.1003_1004del (p.Gln335AlafsTer2)
c.964-57_964-56del (n.964-57_964-56del)
c.934-57_934-56del (n.934-57_934-56del)
c.859-57_859-56del (n.859-57_859-56del)
c.757-57_757-56del (n.757-57_757-56del)
c.331_332del (p.Gln111AlafsTer2)
 ClinVar
5g.112819211A=CA1573492620APCc.1179A= (p.Ser393=)
n.1235A=
c.*1185A= (n.*1185A=)
c.1125A= (p.Ser375=)
c.*501A= (n.*501A=)
c.1209A= (p.Ser403=)
c.1104A= (p.Ser368=)
c.1095A= (p.Ser365=)
c.1002A= (p.Ser334=)
c.964-58A= (n.964-58A=)
c.934-58A= (n.934-58A=)
c.859-58A= (n.859-58A=)
c.757-58A= (n.757-58A=)
c.330A= (p.Ser110=)
5g.112819211A>CCA445960331APCc.1179A>C (p.Ser393=)
n.1235A>C
c.*1185A>C (n.*1185A>C)
c.1125A>C (p.Ser375=)
c.*501A>C (n.*501A>C)
c.1209A>C (p.Ser403=)
c.1104A>C (p.Ser368=)
c.1095A>C (p.Ser365=)
c.1002A>C (p.Ser334=)
c.964-58A>C (n.964-58A>C)
c.934-58A>C (n.934-58A>C)
c.859-58A>C (n.859-58A>C)
c.757-58A>C (n.757-58A>C)
c.330A>C (p.Ser110=)
 dbSNP
5g.112819211A>GCA10578308APCc.1179A>G (p.Ser393=)
n.1235A>G
c.*1185A>G (n.*1185A>G)
c.1125A>G (p.Ser375=)
c.*501A>G (n.*501A>G)
c.1209A>G (p.Ser403=)
c.1104A>G (p.Ser368=)
c.1095A>G (p.Ser365=)
c.1002A>G (p.Ser334=)
c.964-58A>G (n.964-58A>G)
c.934-58A>G (n.934-58A>G)
c.859-58A>G (n.859-58A>G)
c.757-58A>G (n.757-58A>G)
c.330A>G (p.Ser110=)
 ClinVar dbSNP gnomAD v4
5g.112819211A>TCA445960330APCc.1179A>T (p.Ser393=)
n.1235A>T
c.*1185A>T (n.*1185A>T)
c.1125A>T (p.Ser375=)
c.*501A>T (n.*501A>T)
c.1209A>T (p.Ser403=)
c.1104A>T (p.Ser368=)
c.1095A>T (p.Ser365=)
c.1002A>T (p.Ser334=)
c.964-58A>T (n.964-58A>T)
c.934-58A>T (n.934-58A>T)
c.859-58A>T (n.859-58A>T)
c.757-58A>T (n.757-58A>T)
c.330A>T (p.Ser110=)
 dbSNP
5g.112819211dupCA2573138823APCc.1179dup (p.Gln394ThrfsTer3)
n.1235dup
c.*1185dup (n.*1185dup)
c.1125dup (p.Gln376ThrfsTer3)
c.*501dup (n.*501dup)
c.1209dup (p.Gln404ThrfsTer3)
c.1104dup (p.Gln369ThrfsTer3)
c.1095dup (p.Gln366ThrfsTer3)
c.1002dup (p.Gln335ThrfsTer3)
c.964-58dup (n.964-58dup)
c.934-58dup (n.934-58dup)
c.859-58dup (n.859-58dup)
c.757-58dup (n.757-58dup)
c.330dup (p.Gln111ThrfsTer3)
 ClinVar dbSNP
5g.112819212C>ACA026831APCc.1180C>A (p.Gln394Lys)
n.1236C>A
c.*1186C>A (n.*1186C>A)
c.1126C>A (p.Gln376Lys)
c.*502C>A (n.*502C>A)
c.1210C>A (p.Gln404Lys)
c.1105C>A (p.Gln369Lys)
c.1096C>A (p.Gln366Lys)
c.1003C>A (p.Gln335Lys)
c.964-57C>A (n.964-57C>A)
c.934-57C>A (n.934-57C>A)
c.859-57C>A (n.859-57C>A)
c.757-57C>A (n.757-57C>A)
c.331C>A (p.Gln111Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112819212C=CA1573492631APCc.1180C= (p.Gln394=)
n.1236C=
c.*1186C= (n.*1186C=)
c.1126C= (p.Gln376=)
c.*502C= (n.*502C=)
c.1210C= (p.Gln404=)
c.1105C= (p.Gln369=)
c.1096C= (p.Gln366=)
c.1003C= (p.Gln335=)
c.964-57C= (n.964-57C=)
c.934-57C= (n.934-57C=)
c.859-57C= (n.859-57C=)
c.757-57C= (n.757-57C=)
c.331C= (p.Gln111=)
5g.112819212C>GCA16023888APCc.1180C>G (p.Gln394Glu)
n.1236C>G
c.*1186C>G (n.*1186C>G)
c.1126C>G (p.Gln376Glu)
c.*502C>G (n.*502C>G)
c.1210C>G (p.Gln404Glu)
c.1105C>G (p.Gln369Glu)
c.1096C>G (p.Gln366Glu)
c.1003C>G (p.Gln335Glu)
c.964-57C>G (n.964-57C>G)
c.934-57C>G (n.934-57C>G)
c.859-57C>G (n.859-57C>G)
c.757-57C>G (n.757-57C>G)
c.331C>G (p.Gln111Glu)
 dbSNP
5g.112819212C>TCA16023889APCc.1180C>T (p.Gln394Ter)
n.1236C>T
c.*1186C>T (n.*1186C>T)
c.1126C>T (p.Gln376Ter)
c.*502C>T (n.*502C>T)
c.1210C>T (p.Gln404Ter)
c.1105C>T (p.Gln369Ter)
c.1096C>T (p.Gln366Ter)
c.1003C>T (p.Gln335Ter)
c.964-57C>T (n.964-57C>T)
c.934-57C>T (n.934-57C>T)
c.859-57C>T (n.859-57C>T)
c.757-57C>T (n.757-57C>T)
c.331C>T (p.Gln111Ter)
 ClinVar dbSNP
5g.112819213A=CA1573492637APCc.1181A= (p.Gln394=)
n.1237A=
c.*1187A= (n.*1187A=)
c.1127A= (p.Gln376=)
c.*503A= (n.*503A=)
c.1211A= (p.Gln404=)
c.1106A= (p.Gln369=)
c.1097A= (p.Gln366=)
c.1004A= (p.Gln335=)
c.964-56A= (n.964-56A=)
c.934-56A= (n.934-56A=)
c.859-56A= (n.859-56A=)
c.757-56A= (n.757-56A=)
c.332A= (p.Gln111=)
5g.112819213A>CCA16023890APCc.1181A>C (p.Gln394Pro)
n.1237A>C
c.*1187A>C (n.*1187A>C)
c.1127A>C (p.Gln376Pro)
c.*503A>C (n.*503A>C)
c.1211A>C (p.Gln404Pro)
c.1106A>C (p.Gln369Pro)
c.1097A>C (p.Gln366Pro)
c.1004A>C (p.Gln335Pro)
c.964-56A>C (n.964-56A>C)
c.934-56A>C (n.934-56A>C)
c.859-56A>C (n.859-56A>C)
c.757-56A>C (n.757-56A>C)
c.332A>C (p.Gln111Pro)
 dbSNP gnomAD v2 gnomAD v4
5g.112819213A>GCA16023891APCc.1181A>G (p.Gln394Arg)
n.1237A>G
c.*1187A>G (n.*1187A>G)
c.1127A>G (p.Gln376Arg)
c.*503A>G (n.*503A>G)
c.1211A>G (p.Gln404Arg)
c.1106A>G (p.Gln369Arg)
c.1097A>G (p.Gln366Arg)
c.1004A>G (p.Gln335Arg)
c.964-56A>G (n.964-56A>G)
c.934-56A>G (n.934-56A>G)
c.859-56A>G (n.859-56A>G)
c.757-56A>G (n.757-56A>G)
c.332A>G (p.Gln111Arg)
 dbSNP
5g.112819213A>TCA16023892APCc.1181A>T (p.Gln394Leu)
n.1237A>T
c.*1187A>T (n.*1187A>T)
c.1127A>T (p.Gln376Leu)
c.*503A>T (n.*503A>T)
c.1211A>T (p.Gln404Leu)
c.1106A>T (p.Gln369Leu)
c.1097A>T (p.Gln366Leu)
c.1004A>T (p.Gln335Leu)
c.964-56A>T (n.964-56A>T)
c.934-56A>T (n.934-56A>T)
c.859-56A>T (n.859-56A>T)
c.757-56A>T (n.757-56A>T)
c.332A>T (p.Gln111Leu)
 dbSNP
5g.112819214G>ACA445960332APCc.1182G>A (p.Gln394=)
n.1238G>A
c.*1188G>A (n.*1188G>A)
c.1128G>A (p.Gln376=)
c.*504G>A (n.*504G>A)
c.1212G>A (p.Gln404=)
c.1107G>A (p.Gln369=)
c.1098G>A (p.Gln366=)
c.1005G>A (p.Gln335=)
c.964-55G>A (n.964-55G>A)
c.934-55G>A (n.934-55G>A)
c.859-55G>A (n.859-55G>A)
c.757-55G>A (n.757-55G>A)
c.333G>A (p.Gln111=)
 dbSNP
5g.112819214G>CCA026840APCc.1182G>C (p.Gln394His)
n.1238G>C
c.*1188G>C (n.*1188G>C)
c.1128G>C (p.Gln376His)
c.*504G>C (n.*504G>C)
c.1212G>C (p.Gln404His)
c.1107G>C (p.Gln369His)
c.1098G>C (p.Gln366His)
c.1005G>C (p.Gln335His)
c.964-55G>C (n.964-55G>C)
c.934-55G>C (n.934-55G>C)
c.859-55G>C (n.859-55G>C)
c.757-55G>C (n.757-55G>C)
c.333G>C (p.Gln111His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112819214G=CA1573492642APCc.1182G= (p.Gln394=)
n.1238G=
c.*1188G= (n.*1188G=)
c.1128G= (p.Gln376=)
c.*504G= (n.*504G=)
c.1212G= (p.Gln404=)
c.1107G= (p.Gln369=)
c.1098G= (p.Gln366=)
c.1005G= (p.Gln335=)
c.964-55G= (n.964-55G=)
c.934-55G= (n.934-55G=)
c.859-55G= (n.859-55G=)
c.757-55G= (n.757-55G=)
c.333G= (p.Gln111=)
5g.112819214G>TCA026849APCc.1182G>T (p.Gln394His)
n.1238G>T
c.*1188G>T (n.*1188G>T)
c.1128G>T (p.Gln376His)
c.*504G>T (n.*504G>T)
c.1212G>T (p.Gln404His)
c.1107G>T (p.Gln369His)
c.1098G>T (p.Gln366His)
c.1005G>T (p.Gln335His)
c.964-55G>T (n.964-55G>T)
c.934-55G>T (n.934-55G>T)
c.859-55G>T (n.859-55G>T)
c.757-55G>T (n.757-55G>T)
c.333G>T (p.Gln111His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819215C>ACA16023893APCc.1183C>A (p.Pro395Thr)
n.1239C>A
c.*1189C>A (n.*1189C>A)
c.1129C>A (p.Pro377Thr)
c.*505C>A (n.*505C>A)
c.1213C>A (p.Pro405Thr)
c.1108C>A (p.Pro370Thr)
c.1099C>A (p.Pro367Thr)
c.1006C>A (p.Pro336Thr)
c.964-54C>A (n.964-54C>A)
c.934-54C>A (n.934-54C>A)
c.859-54C>A (n.859-54C>A)
c.757-54C>A (n.757-54C>A)
c.334C>A (p.Pro112Thr)
 dbSNP
5g.112819215C>GCA16023894APCc.1183C>G (p.Pro395Ala)
n.1239C>G
c.*1189C>G (n.*1189C>G)
c.1129C>G (p.Pro377Ala)
c.*505C>G (n.*505C>G)
c.1213C>G (p.Pro405Ala)
c.1108C>G (p.Pro370Ala)
c.1099C>G (p.Pro367Ala)
c.1006C>G (p.Pro336Ala)
c.964-54C>G (n.964-54C>G)
c.934-54C>G (n.934-54C>G)
c.859-54C>G (n.859-54C>G)
c.757-54C>G (n.757-54C>G)
c.334C>G (p.Pro112Ala)
 dbSNP
5g.112819215C>TCA16023895APCc.1183C>T (p.Pro395Ser)
n.1239C>T
c.*1189C>T (n.*1189C>T)
c.1129C>T (p.Pro377Ser)
c.*505C>T (n.*505C>T)
c.1213C>T (p.Pro405Ser)
c.1108C>T (p.Pro370Ser)
c.1099C>T (p.Pro367Ser)
c.1006C>T (p.Pro336Ser)
c.964-54C>T (n.964-54C>T)
c.934-54C>T (n.934-54C>T)
c.859-54C>T (n.859-54C>T)
c.757-54C>T (n.757-54C>T)
c.334C>T (p.Pro112Ser)
 dbSNP
5g.112819216C>ACA16023896APCc.1184C>A (p.Pro395His)
n.1240C>A
c.*1190C>A (n.*1190C>A)
c.1130C>A (p.Pro377His)
c.*506C>A (n.*506C>A)
c.1214C>A (p.Pro405His)
c.1109C>A (p.Pro370His)
c.1100C>A (p.Pro367His)
c.1007C>A (p.Pro336His)
c.964-53C>A (n.964-53C>A)
c.934-53C>A (n.934-53C>A)
c.859-53C>A (n.859-53C>A)
c.757-53C>A (n.757-53C>A)
c.335C>A (p.Pro112His)
 dbSNP
5g.112819216C>GCA16023897APCc.1184C>G (p.Pro395Arg)
n.1240C>G
c.*1190C>G (n.*1190C>G)
c.1130C>G (p.Pro377Arg)
c.*506C>G (n.*506C>G)
c.1214C>G (p.Pro405Arg)
c.1109C>G (p.Pro370Arg)
c.1100C>G (p.Pro367Arg)
c.1007C>G (p.Pro336Arg)
c.964-53C>G (n.964-53C>G)
c.934-53C>G (n.934-53C>G)
c.859-53C>G (n.859-53C>G)
c.757-53C>G (n.757-53C>G)
c.335C>G (p.Pro112Arg)
 dbSNP
5g.112819216C>TCA16023898APCc.1184C>T (p.Pro395Leu)
n.1240C>T
c.*1190C>T (n.*1190C>T)
c.1130C>T (p.Pro377Leu)
c.*506C>T (n.*506C>T)
c.1214C>T (p.Pro405Leu)
c.1109C>T (p.Pro370Leu)
c.1100C>T (p.Pro367Leu)
c.1007C>T (p.Pro336Leu)
c.964-53C>T (n.964-53C>T)
c.934-53C>T (n.934-53C>T)
c.859-53C>T (n.859-53C>T)
c.757-53C>T (n.757-53C>T)
c.335C>T (p.Pro112Leu)
 dbSNP
5g.112819217T>ACA445960333APCc.1185T>A (p.Pro395=)
n.1241T>A
c.*1191T>A (n.*1191T>A)
c.1131T>A (p.Pro377=)
c.*507T>A (n.*507T>A)
c.1215T>A (p.Pro405=)
c.1110T>A (p.Pro370=)
c.1101T>A (p.Pro367=)
c.1008T>A (p.Pro336=)
c.964-52T>A (n.964-52T>A)
c.934-52T>A (n.934-52T>A)
c.859-52T>A (n.859-52T>A)
c.757-52T>A (n.757-52T>A)
c.336T>A (p.Pro112=)
 dbSNP
5g.112819217T>CCA445960335APCc.1185T>C (p.Pro395=)
n.1241T>C
c.*1191T>C (n.*1191T>C)
c.1131T>C (p.Pro377=)
c.*507T>C (n.*507T>C)
c.1215T>C (p.Pro405=)
c.1110T>C (p.Pro370=)
c.1101T>C (p.Pro367=)
c.1008T>C (p.Pro336=)
c.964-52T>C (n.964-52T>C)
c.934-52T>C (n.934-52T>C)
c.859-52T>C (n.859-52T>C)
c.757-52T>C (n.757-52T>C)
c.336T>C (p.Pro112=)
 ClinVar dbSNP
5g.112819217T>GCA445960334APCc.1185T>G (p.Pro395=)
n.1241T>G
c.*1191T>G (n.*1191T>G)
c.1131T>G (p.Pro377=)
c.*507T>G (n.*507T>G)
c.1215T>G (p.Pro405=)
c.1110T>G (p.Pro370=)
c.1101T>G (p.Pro367=)
c.1008T>G (p.Pro336=)
c.964-52T>G (n.964-52T>G)
c.934-52T>G (n.934-52T>G)
c.859-52T>G (n.859-52T>G)
c.757-52T>G (n.757-52T>G)
c.336T>G (p.Pro112=)
5g.112819220_112819222delCA2580613622APCc.1188_1190del (p.Asp397del)
n.1244_1246del
c.*1194_*1196del (n.*1194_*1196del)
c.1134_1136del (p.Asp379del)
c.*510_*512del (n.*510_*512del)
c.1218_1220del (p.Asp407del)
c.1113_1115del (p.Asp372del)
c.1104_1106del (p.Asp369del)
c.1011_1013del (p.Asp338del)
c.964-49_964-47del (n.964-49_964-47del)
c.934-49_934-47del (n.934-49_934-47del)
c.859-49_859-47del (n.859-49_859-47del)
c.757-49_757-47del (n.757-49_757-47del)
c.339_341del (p.Asp114del)
 ClinVar
5g.112819218G>ACA16023899APCc.1186G>A (p.Asp396Asn)
n.1242G>A
c.*1192G>A (n.*1192G>A)
c.1132G>A (p.Asp378Asn)
c.*508G>A (n.*508G>A)
c.1216G>A (p.Asp406Asn)
c.1111G>A (p.Asp371Asn)
c.1102G>A (p.Asp368Asn)
c.1009G>A (p.Asp337Asn)
c.964-51G>A (n.964-51G>A)
c.934-51G>A (n.934-51G>A)
c.859-51G>A (n.859-51G>A)
c.757-51G>A (n.757-51G>A)
c.337G>A (p.Asp113Asn)
 ClinVar dbSNP
5g.112819218G>CCA16023900APCc.1186G>C (p.Asp396His)
n.1242G>C
c.*1192G>C (n.*1192G>C)
c.1132G>C (p.Asp378His)
c.*508G>C (n.*508G>C)
c.1216G>C (p.Asp406His)
c.1111G>C (p.Asp371His)
c.1102G>C (p.Asp368His)
c.1009G>C (p.Asp337His)
c.964-51G>C (n.964-51G>C)
c.934-51G>C (n.934-51G>C)
c.859-51G>C (n.859-51G>C)
c.757-51G>C (n.757-51G>C)
c.337G>C (p.Asp113His)
 dbSNP
5g.112819218G=CA1573492676APCc.1186G= (p.Asp396=)
n.1242G=
c.*1192G= (n.*1192G=)
c.1132G= (p.Asp378=)
c.*508G= (n.*508G=)
c.1216G= (p.Asp406=)
c.1111G= (p.Asp371=)
c.1102G= (p.Asp368=)
c.1009G= (p.Asp337=)
c.964-51G= (n.964-51G=)
c.934-51G= (n.934-51G=)
c.859-51G= (n.859-51G=)
c.757-51G= (n.757-51G=)
c.337G= (p.Asp113=)
5g.112819218G>TCA16023901APCc.1186G>T (p.Asp396Tyr)
n.1242G>T
c.*1192G>T (n.*1192G>T)
c.1132G>T (p.Asp378Tyr)
c.*508G>T (n.*508G>T)
c.1216G>T (p.Asp406Tyr)
c.1111G>T (p.Asp371Tyr)
c.1102G>T (p.Asp368Tyr)
c.1009G>T (p.Asp337Tyr)
c.964-51G>T (n.964-51G>T)
c.934-51G>T (n.934-51G>T)
c.859-51G>T (n.859-51G>T)
c.757-51G>T (n.757-51G>T)
c.337G>T (p.Asp113Tyr)
5g.112819219A>CCA16023902APCc.1187A>C (p.Asp396Ala)
n.1243A>C
c.*1193A>C (n.*1193A>C)
c.1133A>C (p.Asp378Ala)
c.*509A>C (n.*509A>C)
c.1217A>C (p.Asp406Ala)
c.1112A>C (p.Asp371Ala)
c.1103A>C (p.Asp368Ala)
c.1010A>C (p.Asp337Ala)
c.964-50A>C (n.964-50A>C)
c.934-50A>C (n.934-50A>C)
c.859-50A>C (n.859-50A>C)
c.757-50A>C (n.757-50A>C)
c.338A>C (p.Asp113Ala)
 dbSNP
5g.112819219A>GCA16023903APCc.1187A>G (p.Asp396Gly)
n.1243A>G
c.*1193A>G (n.*1193A>G)
c.1133A>G (p.Asp378Gly)
c.*509A>G (n.*509A>G)
c.1217A>G (p.Asp406Gly)
c.1112A>G (p.Asp371Gly)
c.1103A>G (p.Asp368Gly)
c.1010A>G (p.Asp337Gly)
c.964-50A>G (n.964-50A>G)
c.934-50A>G (n.934-50A>G)
c.859-50A>G (n.859-50A>G)
c.757-50A>G (n.757-50A>G)
c.338A>G (p.Asp113Gly)
 dbSNP
5g.112819219A>TCA16023904APCc.1187A>T (p.Asp396Val)
n.1243A>T
c.*1193A>T (n.*1193A>T)
c.1133A>T (p.Asp378Val)
c.*509A>T (n.*509A>T)
c.1217A>T (p.Asp406Val)
c.1112A>T (p.Asp371Val)
c.1103A>T (p.Asp368Val)
c.1010A>T (p.Asp337Val)
c.964-50A>T (n.964-50A>T)
c.934-50A>T (n.934-50A>T)
c.859-50A>T (n.859-50A>T)
c.757-50A>T (n.757-50A>T)
c.338A>T (p.Asp113Val)
 dbSNP
5g.112819220T>ACA16023905APCc.1188T>A (p.Asp396Glu)
n.1244T>A
c.*1194T>A (n.*1194T>A)
c.1134T>A (p.Asp378Glu)
c.*510T>A (n.*510T>A)
c.1218T>A (p.Asp406Glu)
c.1113T>A (p.Asp371Glu)
c.1104T>A (p.Asp368Glu)
c.1011T>A (p.Asp337Glu)
c.964-49T>A (n.964-49T>A)
c.934-49T>A (n.934-49T>A)
c.859-49T>A (n.859-49T>A)
c.757-49T>A (n.757-49T>A)
c.339T>A (p.Asp113Glu)
 ClinVar dbSNP
5g.112819220T>CCA445960336APCc.1188T>C (p.Asp396=)
n.1244T>C
c.*1194T>C (n.*1194T>C)
c.1134T>C (p.Asp378=)
c.*510T>C (n.*510T>C)
c.1218T>C (p.Asp406=)
c.1113T>C (p.Asp371=)
c.1104T>C (p.Asp368=)
c.1011T>C (p.Asp337=)
c.964-49T>C (n.964-49T>C)
c.934-49T>C (n.934-49T>C)
c.859-49T>C (n.859-49T>C)
c.757-49T>C (n.757-49T>C)
c.339T>C (p.Asp113=)
 ClinVar dbSNP gnomAD v4
5g.112819220T>GCA16023906APCc.1188T>G (p.Asp396Glu)
n.1244T>G
c.*1194T>G (n.*1194T>G)
c.1134T>G (p.Asp378Glu)
c.*510T>G (n.*510T>G)
c.1218T>G (p.Asp406Glu)
c.1113T>G (p.Asp371Glu)
c.1104T>G (p.Asp368Glu)
c.1011T>G (p.Asp337Glu)
c.964-49T>G (n.964-49T>G)
c.934-49T>G (n.934-49T>G)
c.859-49T>G (n.859-49T>G)
c.757-49T>G (n.757-49T>G)
c.339T>G (p.Asp113Glu)
 dbSNP
5g.112819220T=CA1573492684APCc.1188T= (p.Asp396=)
n.1244T=
c.*1194T= (n.*1194T=)
c.1134T= (p.Asp378=)
c.*510T= (n.*510T=)
c.1218T= (p.Asp406=)
c.1113T= (p.Asp371=)
c.1104T= (p.Asp368=)
c.1011T= (p.Asp337=)
c.964-49T= (n.964-49T=)
c.934-49T= (n.934-49T=)
c.859-49T= (n.859-49T=)
c.757-49T= (n.757-49T=)
c.339T= (p.Asp113=)
5g.112819220dupCA2582341256APCc.1188dup (p.Asp397Ter)
n.1244dup
c.*1194dup (n.*1194dup)
c.1134dup (p.Asp379Ter)
c.*510dup (n.*510dup)
c.1218dup (p.Asp407Ter)
c.1113dup (p.Asp372Ter)
c.1104dup (p.Asp369Ter)
c.1011dup (p.Asp338Ter)
c.964-49dup (n.964-49dup)
c.934-49dup (n.934-49dup)
c.859-49dup (n.859-49dup)
c.757-49dup (n.757-49dup)
c.339dup (p.Asp114Ter)
 ClinVar
5g.112819221G>ACA16023907APCc.1189G>A (p.Asp397Asn)
n.1245G>A
c.*1195G>A (n.*1195G>A)
c.1135G>A (p.Asp379Asn)
c.*511G>A (n.*511G>A)
c.1219G>A (p.Asp407Asn)
c.1114G>A (p.Asp372Asn)
c.1105G>A (p.Asp369Asn)
c.1012G>A (p.Asp338Asn)
c.964-48G>A (n.964-48G>A)
c.934-48G>A (n.934-48G>A)
c.859-48G>A (n.859-48G>A)
c.757-48G>A (n.757-48G>A)
c.340G>A (p.Asp114Asn)
 ClinVar dbSNP
5g.112819221G>CCA16023908APCc.1189G>C (p.Asp397His)
n.1245G>C
c.*1195G>C (n.*1195G>C)
c.1135G>C (p.Asp379His)
c.*511G>C (n.*511G>C)
c.1219G>C (p.Asp407His)
c.1114G>C (p.Asp372His)
c.1105G>C (p.Asp369His)
c.1012G>C (p.Asp338His)
c.964-48G>C (n.964-48G>C)
c.934-48G>C (n.934-48G>C)
c.859-48G>C (n.859-48G>C)
c.757-48G>C (n.757-48G>C)
c.340G>C (p.Asp114His)
 dbSNP
5g.112819221G=CA1573492694APCc.1189G= (p.Asp397=)
n.1245G=
c.*1195G= (n.*1195G=)
c.1135G= (p.Asp379=)
c.*511G= (n.*511G=)
c.1219G= (p.Asp407=)
c.1114G= (p.Asp372=)
c.1105G= (p.Asp369=)
c.1012G= (p.Asp338=)
c.964-48G= (n.964-48G=)
c.934-48G= (n.934-48G=)
c.859-48G= (n.859-48G=)
c.757-48G= (n.757-48G=)
c.340G= (p.Asp114=)
5g.112819221G>TCA16023909APCc.1189G>T (p.Asp397Tyr)
n.1245G>T
c.*1195G>T (n.*1195G>T)
c.1135G>T (p.Asp379Tyr)
c.*511G>T (n.*511G>T)
c.1219G>T (p.Asp407Tyr)
c.1114G>T (p.Asp372Tyr)
c.1105G>T (p.Asp369Tyr)
c.1012G>T (p.Asp338Tyr)
c.964-48G>T (n.964-48G>T)
c.934-48G>T (n.934-48G>T)
c.859-48G>T (n.859-48G>T)
c.757-48G>T (n.757-48G>T)
c.340G>T (p.Asp114Tyr)
5g.112819222A=CA1573492699APCc.1190A= (p.Asp397=)
n.1246A=
c.*1196A= (n.*1196A=)
c.1136A= (p.Asp379=)
c.*512A= (n.*512A=)
c.1220A= (p.Asp407=)
c.1115A= (p.Asp372=)
c.1106A= (p.Asp369=)
c.1013A= (p.Asp338=)
c.964-47A= (n.964-47A=)
c.934-47A= (n.934-47A=)
c.859-47A= (n.859-47A=)
c.757-47A= (n.757-47A=)
c.341A= (p.Asp114=)
5g.112819222A>CCA16023910APCc.1190A>C (p.Asp397Ala)
n.1246A>C
c.*1196A>C (n.*1196A>C)
c.1136A>C (p.Asp379Ala)
c.*512A>C (n.*512A>C)
c.1220A>C (p.Asp407Ala)
c.1115A>C (p.Asp372Ala)
c.1106A>C (p.Asp369Ala)
c.1013A>C (p.Asp338Ala)
c.964-47A>C (n.964-47A>C)
c.934-47A>C (n.934-47A>C)
c.859-47A>C (n.859-47A>C)
c.757-47A>C (n.757-47A>C)
c.341A>C (p.Asp114Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112819222A>GCA16023911APCc.1190A>G (p.Asp397Gly)
n.1246A>G
c.*1196A>G (n.*1196A>G)
c.1136A>G (p.Asp379Gly)
c.*512A>G (n.*512A>G)
c.1220A>G (p.Asp407Gly)
c.1115A>G (p.Asp372Gly)
c.1106A>G (p.Asp369Gly)
c.1013A>G (p.Asp338Gly)
c.964-47A>G (n.964-47A>G)
c.934-47A>G (n.934-47A>G)
c.859-47A>G (n.859-47A>G)
c.757-47A>G (n.757-47A>G)
c.341A>G (p.Asp114Gly)
 ClinVar dbSNP
5g.112819222A>TCA16023912APCc.1190A>T (p.Asp397Val)
n.1246A>T
c.*1196A>T (n.*1196A>T)
c.1136A>T (p.Asp379Val)
c.*512A>T (n.*512A>T)
c.1220A>T (p.Asp407Val)
c.1115A>T (p.Asp372Val)
c.1106A>T (p.Asp369Val)
c.1013A>T (p.Asp338Val)
c.964-47A>T (n.964-47A>T)
c.934-47A>T (n.934-47A>T)
c.859-47A>T (n.859-47A>T)
c.757-47A>T (n.757-47A>T)
c.341A>T (p.Asp114Val)
 dbSNP
5g.112819223_112819224dupCA2573138824APCc.1191_1192dup (p.Lys398ThrfsTer?)
n.1247_1248dup
c.*1197_*1198dup (n.*1197_*1198dup)
c.1137_1138dup (p.Lys380ThrfsTer?)
c.*513_*514dup (n.*513_*514dup)
c.1221_1222dup (p.Lys408ThrfsTer?)
c.1116_1117dup (p.Lys373ThrfsTer?)
c.1107_1108dup (p.Lys370ThrfsTer?)
c.1014_1015dup (p.Lys339ThrfsTer?)
c.964-46_964-45dup (n.964-46_964-45dup)
c.934-46_934-45dup (n.934-46_934-45dup)
c.859-46_859-45dup (n.859-46_859-45dup)
c.757-46_757-45dup (n.757-46_757-45dup)
c.342_343dup (p.Lys115ThrfsTer?)
 ClinVar dbSNP
5g.112819223C>ACA16023913APCc.1191C>A (p.Asp397Glu)
n.1247C>A
c.*1197C>A (n.*1197C>A)
c.1137C>A (p.Asp379Glu)
c.*513C>A (n.*513C>A)
c.1221C>A (p.Asp407Glu)
c.1116C>A (p.Asp372Glu)
c.1107C>A (p.Asp369Glu)
c.1014C>A (p.Asp338Glu)
c.964-46C>A (n.964-46C>A)
c.934-46C>A (n.934-46C>A)
c.859-46C>A (n.859-46C>A)
c.757-46C>A (n.757-46C>A)
c.342C>A (p.Asp114Glu)
 ClinVar dbSNP
5g.112819223C>GCA16023914APCc.1191C>G (p.Asp397Glu)
n.1247C>G
c.*1197C>G (n.*1197C>G)
c.1137C>G (p.Asp379Glu)
c.*513C>G (n.*513C>G)
c.1221C>G (p.Asp407Glu)
c.1116C>G (p.Asp372Glu)
c.1107C>G (p.Asp369Glu)
c.1014C>G (p.Asp338Glu)
c.964-46C>G (n.964-46C>G)
c.934-46C>G (n.934-46C>G)
c.859-46C>G (n.859-46C>G)
c.757-46C>G (n.757-46C>G)
c.342C>G (p.Asp114Glu)
 dbSNP
5g.112819223C>TCA445960337APCc.1191C>T (p.Asp397=)
n.1247C>T
c.*1197C>T (n.*1197C>T)
c.1137C>T (p.Asp379=)
c.*513C>T (n.*513C>T)
c.1221C>T (p.Asp407=)
c.1116C>T (p.Asp372=)
c.1107C>T (p.Asp369=)
c.1014C>T (p.Asp338=)
c.964-46C>T (n.964-46C>T)
c.934-46C>T (n.934-46C>T)
c.859-46C>T (n.859-46C>T)
c.757-46C>T (n.757-46C>T)
c.342C>T (p.Asp114=)
 dbSNP
5g.112819223_112819225delinsCAACA1573492702APCc.1191_1193delinsCAA (p.Asp397=)
n.1247_1249delinsCAA
c.*1197_*1199delinsCAA (n.*1197_*1199delinsCAA)
c.1137_1139delinsCAA (p.Asp379=)
c.*513_*515delinsCAA (n.*513_*515delinsCAA)
c.1221_1223delinsCAA (p.Asp407=)
c.1116_1118delinsCAA (p.Asp372=)
c.1107_1109delinsCAA (p.Asp369=)
c.1014_1016delinsCAA (p.Asp338=)
c.964-46_964-44delinsCAA (n.964-46_964-44delinsCAA)
c.934-46_934-44delinsCAA (n.934-46_934-44delinsCAA)
c.859-46_859-44delinsCAA (n.859-46_859-44delinsCAA)
c.757-46_757-44delinsCAA (n.757-46_757-44delinsCAA)
c.342_344delinsCAA (p.Asp114=)
5g.112819224A=CA1573492711APCc.1192A= (p.Lys398=)
n.1248A=
c.*1198A= (n.*1198A=)
c.1138A= (p.Lys380=)
c.*514A= (n.*514A=)
c.1222A= (p.Lys408=)
c.1117A= (p.Lys373=)
c.1108A= (p.Lys370=)
c.1015A= (p.Lys339=)
c.964-45A= (n.964-45A=)
c.934-45A= (n.934-45A=)
c.859-45A= (n.859-45A=)
c.757-45A= (n.757-45A=)
c.343A= (p.Lys115=)
5g.112819224A>CCA026858APCc.1192A>C (p.Lys398Gln)
n.1248A>C
c.*1198A>C (n.*1198A>C)
c.1138A>C (p.Lys380Gln)
c.*514A>C (n.*514A>C)
c.1222A>C (p.Lys408Gln)
c.1117A>C (p.Lys373Gln)
c.1108A>C (p.Lys370Gln)
c.1015A>C (p.Lys339Gln)
c.964-45A>C (n.964-45A>C)
c.934-45A>C (n.934-45A>C)
c.859-45A>C (n.859-45A>C)
c.757-45A>C (n.757-45A>C)
c.343A>C (p.Lys115Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819224A>GCA16023915APCc.1192A>G (p.Lys398Glu)
n.1248A>G
c.*1198A>G (n.*1198A>G)
c.1138A>G (p.Lys380Glu)
c.*514A>G (n.*514A>G)
c.1222A>G (p.Lys408Glu)
c.1117A>G (p.Lys373Glu)
c.1108A>G (p.Lys370Glu)
c.1015A>G (p.Lys339Glu)
c.964-45A>G (n.964-45A>G)
c.934-45A>G (n.934-45A>G)
c.859-45A>G (n.859-45A>G)
c.757-45A>G (n.757-45A>G)
c.343A>G (p.Lys115Glu)
 ClinVar dbSNP
5g.112819224A>TCA16023916APCc.1192A>T (p.Lys398Ter)
n.1248A>T
c.*1198A>T (n.*1198A>T)
c.1138A>T (p.Lys380Ter)
c.*514A>T (n.*514A>T)
c.1222A>T (p.Lys408Ter)
c.1117A>T (p.Lys373Ter)
c.1108A>T (p.Lys370Ter)
c.1015A>T (p.Lys339Ter)
c.964-45A>T (n.964-45A>T)
c.934-45A>T (n.934-45A>T)
c.859-45A>T (n.859-45A>T)
c.757-45A>T (n.757-45A>T)
c.343A>T (p.Lys115Ter)
 ClinVar dbSNP
5g.112819224_112819225delCA004076APCc.1192_1193del (p.Lys398GlufsTer5)
n.1248_1249del
c.*1198_*1199del (n.*1198_*1199del)
c.1138_1139del (p.Lys380GlufsTer5)
c.*514_*515del (n.*514_*515del)
c.1222_1223del (p.Lys408GlufsTer5)
c.1117_1118del (p.Lys373GlufsTer5)
c.1108_1109del (p.Lys370GlufsTer5)
c.1015_1016del (p.Lys339GlufsTer5)
c.964-45_964-44del (n.964-45_964-44del)
c.934-45_934-44del (n.934-45_934-44del)
c.859-45_859-44del (n.859-45_859-44del)
c.757-45_757-44del (n.757-45_757-44del)
c.343_344del (p.Lys115GlufsTer5)
 ClinVar dbSNP COSMIC
5g.112819225dupCA2582341257APCc.1193dup (p.Arg399GlufsTer5)
n.1249dup
c.*1199dup (n.*1199dup)
c.1139dup (p.Arg381GlufsTer5)
c.*515dup (n.*515dup)
c.1223dup (p.Arg409GlufsTer5)
c.1118dup (p.Arg374GlufsTer5)
c.1109dup (p.Arg371GlufsTer5)
c.1016dup (p.Arg340GlufsTer5)
c.964-44dup (n.964-44dup)
c.934-44dup (n.934-44dup)
c.859-44dup (n.859-44dup)
c.757-44dup (n.757-44dup)
c.344dup (p.Arg116GlufsTer5)
 ClinVar
5g.112819225A=CA1573492717APCc.1193A= (p.Lys398=)
n.1249A=
c.*1199A= (n.*1199A=)
c.1139A= (p.Lys380=)
c.*515A= (n.*515A=)
c.1223A= (p.Lys408=)
c.1118A= (p.Lys373=)
c.1109A= (p.Lys370=)
c.1016A= (p.Lys339=)
c.964-44A= (n.964-44A=)
c.934-44A= (n.934-44A=)
c.859-44A= (n.859-44A=)
c.757-44A= (n.757-44A=)
c.344A= (p.Lys115=)
5g.112819225A>CCA16023917APCc.1193A>C (p.Lys398Thr)
n.1249A>C
c.*1199A>C (n.*1199A>C)
c.1139A>C (p.Lys380Thr)
c.*515A>C (n.*515A>C)
c.1223A>C (p.Lys408Thr)
c.1118A>C (p.Lys373Thr)
c.1109A>C (p.Lys370Thr)
c.1016A>C (p.Lys339Thr)
c.964-44A>C (n.964-44A>C)
c.934-44A>C (n.934-44A>C)
c.859-44A>C (n.859-44A>C)
c.757-44A>C (n.757-44A>C)
c.344A>C (p.Lys115Thr)
5g.112819225A>GCA026866APCc.1193A>G (p.Lys398Arg)
n.1249A>G
c.*1199A>G (n.*1199A>G)
c.1139A>G (p.Lys380Arg)
c.*515A>G (n.*515A>G)
c.1223A>G (p.Lys408Arg)
c.1118A>G (p.Lys373Arg)
c.1109A>G (p.Lys370Arg)
c.1016A>G (p.Lys339Arg)
c.964-44A>G (n.964-44A>G)
c.934-44A>G (n.934-44A>G)
c.859-44A>G (n.859-44A>G)
c.757-44A>G (n.757-44A>G)
c.344A>G (p.Lys115Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819225A>TCA16023918APCc.1193A>T (p.Lys398Met)
n.1249A>T
c.*1199A>T (n.*1199A>T)
c.1139A>T (p.Lys380Met)
c.*515A>T (n.*515A>T)
c.1223A>T (p.Lys408Met)
c.1118A>T (p.Lys373Met)
c.1109A>T (p.Lys370Met)
c.1016A>T (p.Lys339Met)
c.964-44A>T (n.964-44A>T)
c.934-44A>T (n.934-44A>T)
c.859-44A>T (n.859-44A>T)
c.757-44A>T (n.757-44A>T)
c.344A>T (p.Lys115Met)
 dbSNP
5g.112819229_112819230delCA2582341258APCc.1197_1198del (p.Gly400GlnfsTer3)
n.1253_1254del
c.*1203_*1204del (n.*1203_*1204del)
c.1143_1144del (p.Gly382GlnfsTer3)
c.*519_*520del (n.*519_*520del)
c.1227_1228del (p.Gly410GlnfsTer3)
c.1122_1123del (p.Gly375GlnfsTer3)
c.1113_1114del (p.Gly372GlnfsTer3)
c.1020_1021del (p.Gly341GlnfsTer3)
c.964-40_964-39del (n.964-40_964-39del)
c.934-40_934-39del (n.934-40_934-39del)
c.859-40_859-39del (n.859-40_859-39del)
c.757-40_757-39del (n.757-40_757-39del)
c.348_349del (p.Gly117GlnfsTer3)
 ClinVar
5g.112819226G>ACA445960338APCc.1194G>A (p.Lys398=)
n.1250G>A
c.*1200G>A (n.*1200G>A)
c.1140G>A (p.Lys380=)
c.*516G>A (n.*516G>A)
c.1224G>A (p.Lys408=)
c.1119G>A (p.Lys373=)
c.1110G>A (p.Lys370=)
c.1017G>A (p.Lys339=)
c.964-43G>A (n.964-43G>A)
c.934-43G>A (n.934-43G>A)
c.859-43G>A (n.859-43G>A)
c.757-43G>A (n.757-43G>A)
c.345G>A (p.Lys115=)
 ClinVar dbSNP
5g.112819226G>CCA16023919APCc.1194G>C (p.Lys398Asn)
n.1250G>C
c.*1200G>C (n.*1200G>C)
c.1140G>C (p.Lys380Asn)
c.*516G>C (n.*516G>C)
c.1224G>C (p.Lys408Asn)
c.1119G>C (p.Lys373Asn)
c.1110G>C (p.Lys370Asn)
c.1017G>C (p.Lys339Asn)
c.964-43G>C (n.964-43G>C)
c.934-43G>C (n.934-43G>C)
c.859-43G>C (n.859-43G>C)
c.757-43G>C (n.757-43G>C)
c.345G>C (p.Lys115Asn)
 dbSNP
5g.112819226G>TCA16023920APCc.1194G>T (p.Lys398Asn)
n.1250G>T
c.*1200G>T (n.*1200G>T)
c.1140G>T (p.Lys380Asn)
c.*516G>T (n.*516G>T)
c.1224G>T (p.Lys408Asn)
c.1119G>T (p.Lys373Asn)
c.1110G>T (p.Lys370Asn)
c.1017G>T (p.Lys339Asn)
c.964-43G>T (n.964-43G>T)
c.934-43G>T (n.934-43G>T)
c.859-43G>T (n.859-43G>T)
c.757-43G>T (n.757-43G>T)
c.345G>T (p.Lys115Asn)
5g.112819227A=CA1573492725APCc.1195A= (p.Arg399=)
n.1251A=
c.*1201A= (n.*1201A=)
c.1141A= (p.Arg381=)
c.*517A= (n.*517A=)
c.1225A= (p.Arg409=)
c.1120A= (p.Arg374=)
c.1111A= (p.Arg371=)
c.1018A= (p.Arg340=)
c.964-42A= (n.964-42A=)
c.934-42A= (n.934-42A=)
c.859-42A= (n.859-42A=)
c.757-42A= (n.757-42A=)
c.346A= (p.Arg116=)
5g.112819227A>CCA445960339APCc.1195A>C (p.Arg399=)
n.1251A>C
c.*1201A>C (n.*1201A>C)
c.1141A>C (p.Arg381=)
c.*517A>C (n.*517A>C)
c.1225A>C (p.Arg409=)
c.1120A>C (p.Arg374=)
c.1111A>C (p.Arg371=)
c.1018A>C (p.Arg340=)
c.964-42A>C (n.964-42A>C)
c.934-42A>C (n.934-42A>C)
c.859-42A>C (n.859-42A>C)
c.757-42A>C (n.757-42A>C)
c.346A>C (p.Arg116=)
 ClinVar dbSNP
5g.112819227A>GCA16023921APCc.1195A>G (p.Arg399Gly)
n.1251A>G
c.*1201A>G (n.*1201A>G)
c.1141A>G (p.Arg381Gly)
c.*517A>G (n.*517A>G)
c.1225A>G (p.Arg409Gly)
c.1120A>G (p.Arg374Gly)
c.1111A>G (p.Arg371Gly)
c.1018A>G (p.Arg340Gly)
c.964-42A>G (n.964-42A>G)
c.934-42A>G (n.934-42A>G)
c.859-42A>G (n.859-42A>G)
c.757-42A>G (n.757-42A>G)
c.346A>G (p.Arg116Gly)
 ClinVar dbSNP
5g.112819227A>TCA16023922APCc.1195A>T (p.Arg399Ter)
n.1251A>T
c.*1201A>T (n.*1201A>T)
c.1141A>T (p.Arg381Ter)
c.*517A>T (n.*517A>T)
c.1225A>T (p.Arg409Ter)
c.1120A>T (p.Arg374Ter)
c.1111A>T (p.Arg371Ter)
c.1018A>T (p.Arg340Ter)
c.964-42A>T (n.964-42A>T)
c.934-42A>T (n.934-42A>T)
c.859-42A>T (n.859-42A>T)
c.757-42A>T (n.757-42A>T)
c.346A>T (p.Arg116Ter)
 dbSNP
5g.112819228G>ACA16023923APCc.1196G>A (p.Arg399Lys)
n.1252G>A
c.*1202G>A (n.*1202G>A)
c.1142G>A (p.Arg381Lys)
c.*518G>A (n.*518G>A)
c.1226G>A (p.Arg409Lys)
c.1121G>A (p.Arg374Lys)
c.1112G>A (p.Arg371Lys)
c.1019G>A (p.Arg340Lys)
c.964-41G>A (n.964-41G>A)
c.934-41G>A (n.934-41G>A)
c.859-41G>A (n.859-41G>A)
c.757-41G>A (n.757-41G>A)
c.347G>A (p.Arg116Lys)
 dbSNP
5g.112819228G>CCA16023924APCc.1196G>C (p.Arg399Thr)
n.1252G>C
c.*1202G>C (n.*1202G>C)
c.1142G>C (p.Arg381Thr)
c.*518G>C (n.*518G>C)
c.1226G>C (p.Arg409Thr)
c.1121G>C (p.Arg374Thr)
c.1112G>C (p.Arg371Thr)
c.1019G>C (p.Arg340Thr)
c.964-41G>C (n.964-41G>C)
c.934-41G>C (n.934-41G>C)
c.859-41G>C (n.859-41G>C)
c.757-41G>C (n.757-41G>C)
c.347G>C (p.Arg116Thr)
 dbSNP
5g.112819228G>TCA16023925APCc.1196G>T (p.Arg399Ile)
n.1252G>T
c.*1202G>T (n.*1202G>T)
c.1142G>T (p.Arg381Ile)
c.*518G>T (n.*518G>T)
c.1226G>T (p.Arg409Ile)
c.1121G>T (p.Arg374Ile)
c.1112G>T (p.Arg371Ile)
c.1019G>T (p.Arg340Ile)
c.964-41G>T (n.964-41G>T)
c.934-41G>T (n.934-41G>T)
c.859-41G>T (n.859-41G>T)
c.757-41G>T (n.757-41G>T)
c.347G>T (p.Arg116Ile)
 dbSNP
5g.112819229A=CA1573492734APCc.1197A= (p.Arg399=)
n.1253A=
c.*1203A= (n.*1203A=)
c.1143A= (p.Arg381=)
c.*519A= (n.*519A=)
c.1227A= (p.Arg409=)
c.1122A= (p.Arg374=)
c.1113A= (p.Arg371=)
c.1020A= (p.Arg340=)
c.964-40A= (n.964-40A=)
c.934-40A= (n.934-40A=)
c.859-40A= (n.859-40A=)
c.757-40A= (n.757-40A=)
c.348A= (p.Arg116=)
5g.112819229A>CCA16023926APCc.1197A>C (p.Arg399Ser)
n.1253A>C
c.*1203A>C (n.*1203A>C)
c.1143A>C (p.Arg381Ser)
c.*519A>C (n.*519A>C)
c.1227A>C (p.Arg409Ser)
c.1122A>C (p.Arg374Ser)
c.1113A>C (p.Arg371Ser)
c.1020A>C (p.Arg340Ser)
c.964-40A>C (n.964-40A>C)
c.934-40A>C (n.934-40A>C)
c.859-40A>C (n.859-40A>C)
c.757-40A>C (n.757-40A>C)
c.348A>C (p.Arg116Ser)
 ClinVar
5g.112819229A>GCA004080APCc.1197A>G (p.Arg399=)
n.1253A>G
c.*1203A>G (n.*1203A>G)
c.1143A>G (p.Arg381=)
c.*519A>G (n.*519A>G)
c.1227A>G (p.Arg409=)
c.1122A>G (p.Arg374=)
c.1113A>G (p.Arg371=)
c.1020A>G (p.Arg340=)
c.964-40A>G (n.964-40A>G)
c.934-40A>G (n.934-40A>G)
c.859-40A>G (n.859-40A>G)
c.757-40A>G (n.757-40A>G)
c.348A>G (p.Arg116=)
 ClinVar dbSNP gnomAD v4
5g.112819229A>TCA16023927APCc.1197A>T (p.Arg399Ser)
n.1253A>T
c.*1203A>T (n.*1203A>T)
c.1143A>T (p.Arg381Ser)
c.*519A>T (n.*519A>T)
c.1227A>T (p.Arg409Ser)
c.1122A>T (p.Arg374Ser)
c.1113A>T (p.Arg371Ser)
c.1020A>T (p.Arg340Ser)
c.964-40A>T (n.964-40A>T)
c.934-40A>T (n.934-40A>T)
c.859-40A>T (n.859-40A>T)
c.757-40A>T (n.757-40A>T)
c.348A>T (p.Arg116Ser)
 dbSNP
5g.112819233_112819236delCA2582341259APCc.1201_1204del (p.Arg401ValfsTer?)
n.1257_1260del
c.*1207_*1210del (n.*1207_*1210del)
c.1147_1150del (p.Arg383ValfsTer?)
c.*523_*526del (n.*523_*526del)
c.1231_1234del (p.Arg411ValfsTer?)
c.1126_1129del (p.Arg376ValfsTer?)
c.1117_1120del (p.Arg373ValfsTer?)
c.1024_1027del (p.Arg342ValfsTer?)
c.964-36_964-33del (n.964-36_964-33del)
c.934-36_934-33del (n.934-36_934-33del)
c.859-36_859-33del (n.859-36_859-33del)
c.757-36_757-33del (n.757-36_757-33del)
c.352_355del (p.Arg118ValfsTer?)
 ClinVar
5g.112819230G>ACA16023928APCc.1198G>A (p.Gly400Ser)
n.1254G>A
c.*1204G>A (n.*1204G>A)
c.1144G>A (p.Gly382Ser)
c.*520G>A (n.*520G>A)
c.1228G>A (p.Gly410Ser)
c.1123G>A (p.Gly375Ser)
c.1114G>A (p.Gly372Ser)
c.1021G>A (p.Gly341Ser)
c.964-39G>A (n.964-39G>A)
c.934-39G>A (n.934-39G>A)
c.859-39G>A (n.859-39G>A)
c.757-39G>A (n.757-39G>A)
c.349G>A (p.Gly117Ser)
 ClinVar dbSNP gnomAD v4
5g.112819230G>CCA16023929APCc.1198G>C (p.Gly400Arg)
n.1254G>C
c.*1204G>C (n.*1204G>C)
c.1144G>C (p.Gly382Arg)
c.*520G>C (n.*520G>C)
c.1228G>C (p.Gly410Arg)
c.1123G>C (p.Gly375Arg)
c.1114G>C (p.Gly372Arg)
c.1021G>C (p.Gly341Arg)
c.964-39G>C (n.964-39G>C)
c.934-39G>C (n.934-39G>C)
c.859-39G>C (n.859-39G>C)
c.757-39G>C (n.757-39G>C)
c.349G>C (p.Gly117Arg)
 dbSNP
5g.112819230G=CA1573492742APCc.1198G= (p.Gly400=)
n.1254G=
c.*1204G= (n.*1204G=)
c.1144G= (p.Gly382=)
c.*520G= (n.*520G=)
c.1228G= (p.Gly410=)
c.1123G= (p.Gly375=)
c.1114G= (p.Gly372=)
c.1021G= (p.Gly341=)
c.964-39G= (n.964-39G=)
c.934-39G= (n.934-39G=)
c.859-39G= (n.859-39G=)
c.757-39G= (n.757-39G=)
c.349G= (p.Gly117=)
5g.112819230G>TCA16023930APCc.1198G>T (p.Gly400Cys)
n.1254G>T
c.*1204G>T (n.*1204G>T)
c.1144G>T (p.Gly382Cys)
c.*520G>T (n.*520G>T)
c.1228G>T (p.Gly410Cys)
c.1123G>T (p.Gly375Cys)
c.1114G>T (p.Gly372Cys)
c.1021G>T (p.Gly341Cys)
c.964-39G>T (n.964-39G>T)
c.934-39G>T (n.934-39G>T)
c.859-39G>T (n.859-39G>T)
c.757-39G>T (n.757-39G>T)
c.349G>T (p.Gly117Cys)
 dbSNP
5g.112819231G>ACA16023931APCc.1199G>A (p.Gly400Asp)
n.1255G>A
c.*1205G>A (n.*1205G>A)
c.1145G>A (p.Gly382Asp)
c.*521G>A (n.*521G>A)
c.1229G>A (p.Gly410Asp)
c.1124G>A (p.Gly375Asp)
c.1115G>A (p.Gly372Asp)
c.1022G>A (p.Gly341Asp)
c.964-38G>A (n.964-38G>A)
c.934-38G>A (n.934-38G>A)
c.859-38G>A (n.859-38G>A)
c.757-38G>A (n.757-38G>A)
c.350G>A (p.Gly117Asp)
 ClinVar dbSNP
5g.112819231G>CCA16023932APCc.1199G>C (p.Gly400Ala)
n.1255G>C
c.*1205G>C (n.*1205G>C)
c.1145G>C (p.Gly382Ala)
c.*521G>C (n.*521G>C)
c.1229G>C (p.Gly410Ala)
c.1124G>C (p.Gly375Ala)
c.1115G>C (p.Gly372Ala)
c.1022G>C (p.Gly341Ala)
c.964-38G>C (n.964-38G>C)
c.934-38G>C (n.934-38G>C)
c.859-38G>C (n.859-38G>C)
c.757-38G>C (n.757-38G>C)
c.350G>C (p.Gly117Ala)
 dbSNP
5g.112819231G>TCA16023933APCc.1199G>T (p.Gly400Val)
n.1255G>T
c.*1205G>T (n.*1205G>T)
c.1145G>T (p.Gly382Val)
c.*521G>T (n.*521G>T)
c.1229G>T (p.Gly410Val)
c.1124G>T (p.Gly375Val)
c.1115G>T (p.Gly372Val)
c.1022G>T (p.Gly341Val)
c.964-38G>T (n.964-38G>T)
c.934-38G>T (n.934-38G>T)
c.859-38G>T (n.859-38G>T)
c.757-38G>T (n.757-38G>T)
c.350G>T (p.Gly117Val)
 dbSNP
5g.112819232C>ACA445960340APCc.1200C>A (p.Gly400=)
n.1256C>A
c.*1206C>A (n.*1206C>A)
c.1146C>A (p.Gly382=)
c.*522C>A (n.*522C>A)
c.1230C>A (p.Gly410=)
c.1125C>A (p.Gly375=)
c.1116C>A (p.Gly372=)
c.1023C>A (p.Gly341=)
c.964-37C>A (n.964-37C>A)
c.934-37C>A (n.934-37C>A)
c.859-37C>A (n.859-37C>A)
c.757-37C>A (n.757-37C>A)
c.351C>A (p.Gly117=)
5g.112819232C>GCA445960341APCc.1200C>G (p.Gly400=)
n.1256C>G
c.*1206C>G (n.*1206C>G)
c.1146C>G (p.Gly382=)
c.*522C>G (n.*522C>G)
c.1230C>G (p.Gly410=)
c.1125C>G (p.Gly375=)
c.1116C>G (p.Gly372=)
c.1023C>G (p.Gly341=)
c.964-37C>G (n.964-37C>G)
c.934-37C>G (n.934-37C>G)
c.859-37C>G (n.859-37C>G)
c.757-37C>G (n.757-37C>G)
c.351C>G (p.Gly117=)
 ClinVar
5g.112819232C>TCA445960342APCc.1200C>T (p.Gly400=)
n.1256C>T
c.*1206C>T (n.*1206C>T)
c.1146C>T (p.Gly382=)
c.*522C>T (n.*522C>T)
c.1230C>T (p.Gly410=)
c.1125C>T (p.Gly375=)
c.1116C>T (p.Gly372=)
c.1023C>T (p.Gly341=)
c.964-37C>T (n.964-37C>T)
c.934-37C>T (n.934-37C>T)
c.859-37C>T (n.859-37C>T)
c.757-37C>T (n.757-37C>T)
c.351C>T (p.Gly117=)
5g.112819233A=CA1573492753APCc.1201A= (p.Arg401=)
n.1257A=
c.*1207A= (n.*1207A=)
c.1147A= (p.Arg383=)
c.*523A= (n.*523A=)
c.1231A= (p.Arg411=)
c.1126A= (p.Arg376=)
c.1117A= (p.Arg373=)
c.1024A= (p.Arg342=)
c.964-36A= (n.964-36A=)
c.934-36A= (n.934-36A=)
c.859-36A= (n.859-36A=)
c.757-36A= (n.757-36A=)
c.352A= (p.Arg118=)
5g.112819233A>CCA445960343APCc.1201A>C (p.Arg401=)
n.1257A>C
c.*1207A>C (n.*1207A>C)
c.1147A>C (p.Arg383=)
c.*523A>C (n.*523A>C)
c.1231A>C (p.Arg411=)
c.1126A>C (p.Arg376=)
c.1117A>C (p.Arg373=)
c.1024A>C (p.Arg342=)
c.964-36A>C (n.964-36A>C)
c.934-36A>C (n.934-36A>C)
c.859-36A>C (n.859-36A>C)
c.757-36A>C (n.757-36A>C)
c.352A>C (p.Arg118=)
 ClinVar dbSNP gnomAD v4
5g.112819233A>GCA16023934APCc.1201A>G (p.Arg401Gly)
n.1257A>G
c.*1207A>G (n.*1207A>G)
c.1147A>G (p.Arg383Gly)
c.*523A>G (n.*523A>G)
c.1231A>G (p.Arg411Gly)
c.1126A>G (p.Arg376Gly)
c.1117A>G (p.Arg373Gly)
c.1024A>G (p.Arg342Gly)
c.964-36A>G (n.964-36A>G)
c.934-36A>G (n.934-36A>G)
c.859-36A>G (n.859-36A>G)
c.757-36A>G (n.757-36A>G)
c.352A>G (p.Arg118Gly)
 ClinVar dbSNP
5g.112819233A>TCA16023935APCc.1201A>T (p.Arg401Trp)
n.1257A>T
c.*1207A>T (n.*1207A>T)
c.1147A>T (p.Arg383Trp)
c.*523A>T (n.*523A>T)
c.1231A>T (p.Arg411Trp)
c.1126A>T (p.Arg376Trp)
c.1117A>T (p.Arg373Trp)
c.1024A>T (p.Arg342Trp)
c.964-36A>T (n.964-36A>T)
c.934-36A>T (n.934-36A>T)
c.859-36A>T (n.859-36A>T)
c.757-36A>T (n.757-36A>T)
c.352A>T (p.Arg118Trp)
 dbSNP
5g.112819234G>ACA16023936APCc.1202G>A (p.Arg401Lys)
n.1258G>A
c.*1208G>A (n.*1208G>A)
c.1148G>A (p.Arg383Lys)
c.*524G>A (n.*524G>A)
c.1232G>A (p.Arg411Lys)
c.1127G>A (p.Arg376Lys)
c.1118G>A (p.Arg373Lys)
c.1025G>A (p.Arg342Lys)
c.964-35G>A (n.964-35G>A)
c.934-35G>A (n.934-35G>A)
c.859-35G>A (n.859-35G>A)
c.757-35G>A (n.757-35G>A)
c.353G>A (p.Arg118Lys)
 dbSNP
5g.112819234G>CCA16023937APCc.1202G>C (p.Arg401Thr)
n.1258G>C
c.*1208G>C (n.*1208G>C)
c.1148G>C (p.Arg383Thr)
c.*524G>C (n.*524G>C)
c.1232G>C (p.Arg411Thr)
c.1127G>C (p.Arg376Thr)
c.1118G>C (p.Arg373Thr)
c.1025G>C (p.Arg342Thr)
c.964-35G>C (n.964-35G>C)
c.934-35G>C (n.934-35G>C)
c.859-35G>C (n.859-35G>C)
c.757-35G>C (n.757-35G>C)
c.353G>C (p.Arg118Thr)
 dbSNP gnomAD v4
5g.112819234G>TCA16023938APCc.1202G>T (p.Arg401Met)
n.1258G>T
c.*1208G>T (n.*1208G>T)
c.1148G>T (p.Arg383Met)
c.*524G>T (n.*524G>T)
c.1232G>T (p.Arg411Met)
c.1127G>T (p.Arg376Met)
c.1118G>T (p.Arg373Met)
c.1025G>T (p.Arg342Met)
c.964-35G>T (n.964-35G>T)
c.934-35G>T (n.934-35G>T)
c.859-35G>T (n.859-35G>T)
c.757-35G>T (n.757-35G>T)
c.353G>T (p.Arg118Met)
5g.112819235G>ACA16604740APCc.1203G>A (p.Arg401=)
n.1259G>A
c.*1209G>A (n.*1209G>A)
c.1149G>A (p.Arg383=)
c.*525G>A (n.*525G>A)
c.1233G>A (p.Arg411=)
c.1128G>A (p.Arg376=)
c.1119G>A (p.Arg373=)
c.1026G>A (p.Arg342=)
c.964-34G>A (n.964-34G>A)
c.934-34G>A (n.934-34G>A)
c.859-34G>A (n.859-34G>A)
c.757-34G>A (n.757-34G>A)
c.354G>A (p.Arg118=)
 ClinVar dbSNP gnomAD v4
5g.112819235G>CCA16023939APCc.1203G>C (p.Arg401Ser)
n.1259G>C
c.*1209G>C (n.*1209G>C)
c.1149G>C (p.Arg383Ser)
c.*525G>C (n.*525G>C)
c.1233G>C (p.Arg411Ser)
c.1128G>C (p.Arg376Ser)
c.1119G>C (p.Arg373Ser)
c.1026G>C (p.Arg342Ser)
c.964-34G>C (n.964-34G>C)
c.934-34G>C (n.934-34G>C)
c.859-34G>C (n.859-34G>C)
c.757-34G>C (n.757-34G>C)
c.354G>C (p.Arg118Ser)
5g.112819235G=CA1573492768APCc.1203G= (p.Arg401=)
n.1259G=
c.*1209G= (n.*1209G=)
c.1149G= (p.Arg383=)
c.*525G= (n.*525G=)
c.1233G= (p.Arg411=)
c.1128G= (p.Arg376=)
c.1119G= (p.Arg373=)
c.1026G= (p.Arg342=)
c.964-34G= (n.964-34G=)
c.934-34G= (n.934-34G=)
c.859-34G= (n.859-34G=)
c.757-34G= (n.757-34G=)
c.354G= (p.Arg118=)
5g.112819235G>TCA004084APCc.1203G>T (p.Arg401Ser)
n.1259G>T
c.*1209G>T (n.*1209G>T)
c.1149G>T (p.Arg383Ser)
c.*525G>T (n.*525G>T)
c.1233G>T (p.Arg411Ser)
c.1128G>T (p.Arg376Ser)
c.1119G>T (p.Arg373Ser)
c.1026G>T (p.Arg342Ser)
c.964-34G>T (n.964-34G>T)
c.934-34G>T (n.934-34G>T)
c.859-34G>T (n.859-34G>T)
c.757-34G>T (n.757-34G>T)
c.354G>T (p.Arg118Ser)
 ClinVar dbSNP gnomAD v4
5g.112819236C>ACA16023940APCc.1204C>A (p.Arg402Ser)
n.1260C>A
c.*1210C>A (n.*1210C>A)
c.1150C>A (p.Arg384Ser)
c.*526C>A (n.*526C>A)
c.1234C>A (p.Arg412Ser)
c.1129C>A (p.Arg377Ser)
c.1120C>A (p.Arg374Ser)
c.1027C>A (p.Arg343Ser)
c.964-33C>A (n.964-33C>A)
c.934-33C>A (n.934-33C>A)
c.859-33C>A (n.859-33C>A)
c.757-33C>A (n.757-33C>A)
c.355C>A (p.Arg119Ser)
 ClinVar dbSNP
5g.112819236C=CA1573492770APCc.1204C= (p.Arg402=)
n.1260C=
c.*1210C= (n.*1210C=)
c.1150C= (p.Arg384=)
c.*526C= (n.*526C=)
c.1234C= (p.Arg412=)
c.1129C= (p.Arg377=)
c.1120C= (p.Arg374=)
c.1027C= (p.Arg343=)
c.964-33C= (n.964-33C=)
c.934-33C= (n.934-33C=)
c.859-33C= (n.859-33C=)
c.757-33C= (n.757-33C=)
c.355C= (p.Arg119=)
5g.112819236C>GCA16023941APCc.1204C>G (p.Arg402Gly)
n.1260C>G
c.*1210C>G (n.*1210C>G)
c.1150C>G (p.Arg384Gly)
c.*526C>G (n.*526C>G)
c.1234C>G (p.Arg412Gly)
c.1129C>G (p.Arg377Gly)
c.1120C>G (p.Arg374Gly)
c.1027C>G (p.Arg343Gly)
c.964-33C>G (n.964-33C>G)
c.934-33C>G (n.934-33C>G)
c.859-33C>G (n.859-33C>G)
c.757-33C>G (n.757-33C>G)
c.355C>G (p.Arg119Gly)
 dbSNP
5g.112819236C>TCA10578309APCc.1204C>T (p.Arg402Cys)
n.1260C>T
c.*1210C>T (n.*1210C>T)
c.1150C>T (p.Arg384Cys)
c.*526C>T (n.*526C>T)
c.1234C>T (p.Arg412Cys)
c.1129C>T (p.Arg377Cys)
c.1120C>T (p.Arg374Cys)
c.1027C>T (p.Arg343Cys)
c.964-33C>T (n.964-33C>T)
c.934-33C>T (n.934-33C>T)
c.859-33C>T (n.859-33C>T)
c.757-33C>T (n.757-33C>T)
c.355C>T (p.Arg119Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112819236_112819238delinsCGTCA1573492771APCc.1204_1206delinsCGT (p.Arg402=)
n.1260_1262delinsCGT
c.*1210_*1212delinsCGT (n.*1210_*1212delinsCGT)
c.1150_1152delinsCGT (p.Arg384=)
c.*526_*528delinsCGT (n.*526_*528delinsCGT)
c.1234_1236delinsCGT (p.Arg412=)
c.1129_1131delinsCGT (p.Arg377=)
c.1120_1122delinsCGT (p.Arg374=)
c.1027_1029delinsCGT (p.Arg343=)
c.964-33_964-31delinsCGT (n.964-33_964-31delinsCGT)
c.934-33_934-31delinsCGT (n.934-33_934-31delinsCGT)
c.859-33_859-31delinsCGT (n.859-33_859-31delinsCGT)
c.757-33_757-31delinsCGT (n.757-33_757-31delinsCGT)
c.355_357delinsCGT (p.Arg119=)
5g.112819237G>ACA10582286APCc.1205G>A (p.Arg402His)
n.1261G>A
c.*1211G>A (n.*1211G>A)
c.1151G>A (p.Arg384His)
c.*527G>A (n.*527G>A)
c.1235G>A (p.Arg412His)
c.1130G>A (p.Arg377His)
c.1121G>A (p.Arg374His)
c.1028G>A (p.Arg343His)
c.964-32G>A (n.964-32G>A)
c.934-32G>A (n.934-32G>A)
c.859-32G>A (n.859-32G>A)
c.757-32G>A (n.757-32G>A)
c.356G>A (p.Arg119His)
 ClinVar dbSNP gnomAD v4
5g.112819237G>CCA16023942APCc.1205G>C (p.Arg402Pro)
n.1261G>C
c.*1211G>C (n.*1211G>C)
c.1151G>C (p.Arg384Pro)
c.*527G>C (n.*527G>C)
c.1235G>C (p.Arg412Pro)
c.1130G>C (p.Arg377Pro)
c.1121G>C (p.Arg374Pro)
c.1028G>C (p.Arg343Pro)
c.964-32G>C (n.964-32G>C)
c.934-32G>C (n.934-32G>C)
c.859-32G>C (n.859-32G>C)
c.757-32G>C (n.757-32G>C)
c.356G>C (p.Arg119Pro)
 ClinVar dbSNP gnomAD v4
5g.112819237G=CA1573492772APCc.1205G= (p.Arg402=)
n.1261G=
c.*1211G= (n.*1211G=)
c.1151G= (p.Arg384=)
c.*527G= (n.*527G=)
c.1235G= (p.Arg412=)
c.1130G= (p.Arg377=)
c.1121G= (p.Arg374=)
c.1028G= (p.Arg343=)
c.964-32G= (n.964-32G=)
c.934-32G= (n.934-32G=)
c.859-32G= (n.859-32G=)
c.757-32G= (n.757-32G=)
c.356G= (p.Arg119=)
5g.112819237G>TCA16023943APCc.1205G>T (p.Arg402Leu)
n.1261G>T
c.*1211G>T (n.*1211G>T)
c.1151G>T (p.Arg384Leu)
c.*527G>T (n.*527G>T)
c.1235G>T (p.Arg412Leu)
c.1130G>T (p.Arg377Leu)
c.1121G>T (p.Arg374Leu)
c.1028G>T (p.Arg343Leu)
c.964-32G>T (n.964-32G>T)
c.934-32G>T (n.934-32G>T)
c.859-32G>T (n.859-32G>T)
c.757-32G>T (n.757-32G>T)
c.356G>T (p.Arg119Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112819238_112819239delCA1139658988APCc.1206_1207del (p.Glu403AsnfsTer15)
n.1262_1263del
c.*1212_*1213del (n.*1212_*1213del)
c.1152_1153del (p.Glu385AsnfsTer15)
c.*528_*529del (n.*528_*529del)
c.1236_1237del (p.Glu413AsnfsTer15)
c.1131_1132del (p.Glu378AsnfsTer15)
c.1122_1123del (p.Glu375AsnfsTer15)
c.1029_1030del (p.Glu344AsnfsTer15)
c.964-31_964-30del (n.964-31_964-30del)
c.934-31_934-30del (n.934-31_934-30del)
c.859-31_859-30del (n.859-31_859-30del)
c.757-31_757-30del (n.757-31_757-30del)
c.357_358del (p.Glu120AsnfsTer15)
 ClinVar dbSNP
5g.112819238delCA645562774APCc.1206del (p.Glu403LysfsTer?)
n.1262del
c.*1212del (n.*1212del)
c.1152del (p.Glu385LysfsTer?)
c.*528del (n.*528del)
c.1236del (p.Glu413LysfsTer?)
c.1131del (p.Glu378LysfsTer?)
c.1122del (p.Glu375LysfsTer?)
c.1029del (p.Glu344LysfsTer?)
c.964-31del (n.964-31del)
c.934-31del (n.934-31del)
c.859-31del (n.859-31del)
c.757-31del (n.757-31del)
c.357del (p.Glu120LysfsTer?)
 COSMIC
5g.112819238T>ACA445960344APCc.1206T>A (p.Arg402=)
n.1262T>A
c.*1212T>A (n.*1212T>A)
c.1152T>A (p.Arg384=)
c.*528T>A (n.*528T>A)
c.1236T>A (p.Arg412=)
c.1131T>A (p.Arg377=)
c.1122T>A (p.Arg374=)
c.1029T>A (p.Arg343=)
c.964-31T>A (n.964-31T>A)
c.934-31T>A (n.934-31T>A)
c.859-31T>A (n.859-31T>A)
c.757-31T>A (n.757-31T>A)
c.357T>A (p.Arg119=)
 dbSNP
5g.112819238T>CCA445960345APCc.1206T>C (p.Arg402=)
n.1262T>C
c.*1212T>C (n.*1212T>C)
c.1152T>C (p.Arg384=)
c.*528T>C (n.*528T>C)
c.1236T>C (p.Arg412=)
c.1131T>C (p.Arg377=)
c.1122T>C (p.Arg374=)
c.1029T>C (p.Arg343=)
c.964-31T>C (n.964-31T>C)
c.934-31T>C (n.934-31T>C)
c.859-31T>C (n.859-31T>C)
c.757-31T>C (n.757-31T>C)
c.357T>C (p.Arg119=)
 dbSNP
5g.112819238T>GCA445960346APCc.1206T>G (p.Arg402=)
n.1262T>G
c.*1212T>G (n.*1212T>G)
c.1152T>G (p.Arg384=)
c.*528T>G (n.*528T>G)
c.1236T>G (p.Arg412=)
c.1131T>G (p.Arg377=)
c.1122T>G (p.Arg374=)
c.1029T>G (p.Arg343=)
c.964-31T>G (n.964-31T>G)
c.934-31T>G (n.934-31T>G)
c.859-31T>G (n.859-31T>G)
c.757-31T>G (n.757-31T>G)
c.357T>G (p.Arg119=)
 dbSNP
5g.112819238T=CA1573492798APCc.1206T= (p.Arg402=)
n.1262T=
c.*1212T= (n.*1212T=)
c.1152T= (p.Arg384=)
c.*528T= (n.*528T=)
c.1236T= (p.Arg412=)
c.1131T= (p.Arg377=)
c.1122T= (p.Arg374=)
c.1029T= (p.Arg343=)
c.964-31T= (n.964-31T=)
c.934-31T= (n.934-31T=)
c.859-31T= (n.859-31T=)
c.757-31T= (n.757-31T=)
c.357T= (p.Arg119=)
5g.112819239delCA445960347APCc.1207del (p.Glu403LysfsTer?)
n.1263del
c.*1213del (n.*1213del)
c.1153del (p.Glu385LysfsTer?)
c.*529del (n.*529del)
c.1237del (p.Glu413LysfsTer?)
c.1132del (p.Glu378LysfsTer?)
c.1123del (p.Glu375LysfsTer?)
c.1030del (p.Glu344LysfsTer?)
c.964-30del (n.964-30del)
c.934-30del (n.934-30del)
c.859-30del (n.859-30del)
c.757-30del (n.757-30del)
c.358del (p.Glu120LysfsTer?)
 COSMIC
5g.112819239G>ACA16023944APCc.1207G>A (p.Glu403Lys)
n.1263G>A
c.*1213G>A (n.*1213G>A)
c.1153G>A (p.Glu385Lys)
c.*529G>A (n.*529G>A)
c.1237G>A (p.Glu413Lys)
c.1132G>A (p.Glu378Lys)
c.1123G>A (p.Glu375Lys)
c.1030G>A (p.Glu344Lys)
c.964-30G>A (n.964-30G>A)
c.934-30G>A (n.934-30G>A)
c.859-30G>A (n.859-30G>A)
c.757-30G>A (n.757-30G>A)
c.358G>A (p.Glu120Lys)
 dbSNP COSMIC
5g.112819239G>CCA16023945APCc.1207G>C (p.Glu403Gln)
n.1263G>C
c.*1213G>C (n.*1213G>C)
c.1153G>C (p.Glu385Gln)
c.*529G>C (n.*529G>C)
c.1237G>C (p.Glu413Gln)
c.1132G>C (p.Glu378Gln)
c.1123G>C (p.Glu375Gln)
c.1030G>C (p.Glu344Gln)
c.964-30G>C (n.964-30G>C)
c.934-30G>C (n.934-30G>C)
c.859-30G>C (n.859-30G>C)
c.757-30G>C (n.757-30G>C)
c.358G>C (p.Glu120Gln)
 dbSNP
5g.112819239G>TCA16023946APCc.1207G>T (p.Glu403Ter)
n.1263G>T
c.*1213G>T (n.*1213G>T)
c.1153G>T (p.Glu385Ter)
c.*529G>T (n.*529G>T)
c.1237G>T (p.Glu413Ter)
c.1132G>T (p.Glu378Ter)
c.1123G>T (p.Glu375Ter)
c.1030G>T (p.Glu344Ter)
c.964-30G>T (n.964-30G>T)
c.934-30G>T (n.934-30G>T)
c.859-30G>T (n.859-30G>T)
c.757-30G>T (n.757-30G>T)
c.358G>T (p.Glu120Ter)
 ClinVar
5g.112819239_112819240delinsGACA1573492803APCc.1207_1208delinsGA (p.Glu403=)
n.1263_1264delinsGA
c.*1213_*1214delinsGA (n.*1213_*1214delinsGA)
c.1153_1154delinsGA (p.Glu385=)
c.*529_*530delinsGA (n.*529_*530delinsGA)
c.1237_1238delinsGA (p.Glu413=)
c.1132_1133delinsGA (p.Glu378=)
c.1123_1124delinsGA (p.Glu375=)
c.1030_1031delinsGA (p.Glu344=)
c.964-30_964-29delinsGA (n.964-30_964-29delinsGA)
c.934-30_934-29delinsGA (n.934-30_934-29delinsGA)
c.859-30_859-29delinsGA (n.859-30_859-29delinsGA)
c.757-30_757-29delinsGA (n.757-30_757-29delinsGA)
c.358_359delinsGA (p.Glu120=)
5g.112819240A>CCA16023947APCc.1208A>C (p.Glu403Ala)
n.1264A>C
c.*1214A>C (n.*1214A>C)
c.1154A>C (p.Glu385Ala)
c.*530A>C (n.*530A>C)
c.1238A>C (p.Glu413Ala)
c.1133A>C (p.Glu378Ala)
c.1124A>C (p.Glu375Ala)
c.1031A>C (p.Glu344Ala)
c.964-29A>C (n.964-29A>C)
c.934-29A>C (n.934-29A>C)
c.859-29A>C (n.859-29A>C)
c.757-29A>C (n.757-29A>C)
c.359A>C (p.Glu120Ala)
5g.112819240A>GCA16023948APCc.1208A>G (p.Glu403Gly)
n.1264A>G
c.*1214A>G (n.*1214A>G)
c.1154A>G (p.Glu385Gly)
c.*530A>G (n.*530A>G)
c.1238A>G (p.Glu413Gly)
c.1133A>G (p.Glu378Gly)
c.1124A>G (p.Glu375Gly)
c.1031A>G (p.Glu344Gly)
c.964-29A>G (n.964-29A>G)
c.934-29A>G (n.934-29A>G)
c.859-29A>G (n.859-29A>G)
c.757-29A>G (n.757-29A>G)
c.359A>G (p.Glu120Gly)
 dbSNP
5g.112819240A>TCA16023949APCc.1208A>T (p.Glu403Val)
n.1264A>T
c.*1214A>T (n.*1214A>T)
c.1154A>T (p.Glu385Val)
c.*530A>T (n.*530A>T)
c.1238A>T (p.Glu413Val)
c.1133A>T (p.Glu378Val)
c.1124A>T (p.Glu375Val)
c.1031A>T (p.Glu344Val)
c.964-29A>T (n.964-29A>T)
c.934-29A>T (n.934-29A>T)
c.859-29A>T (n.859-29A>T)
c.757-29A>T (n.757-29A>T)
c.359A>T (p.Glu120Val)
5g.112819242dupCA2582341262APCc.1210dup (p.Ile404AsnfsTer15)
n.1266dup
c.*1216dup (n.*1216dup)
c.1156dup (p.Ile386AsnfsTer15)
c.*532dup (n.*532dup)
c.1240dup (p.Ile414AsnfsTer15)
c.1135dup (p.Ile379AsnfsTer15)
c.1126dup (p.Ile376AsnfsTer15)
c.1033dup (p.Ile345AsnfsTer15)
c.964-27dup (n.964-27dup)
c.934-27dup (n.934-27dup)
c.859-27dup (n.859-27dup)
c.757-27dup (n.757-27dup)
c.361dup (p.Ile121AsnfsTer15)
 ClinVar
5g.112819242delCA16618071APCc.1210del (p.Ile404SerfsTer?)
n.1266del
c.*1216del (n.*1216del)
c.1156del (p.Ile386SerfsTer?)
c.*532del (n.*532del)
c.1240del (p.Ile414SerfsTer?)
c.1135del (p.Ile379SerfsTer?)
c.1126del (p.Ile376SerfsTer?)
c.1033del (p.Ile345SerfsTer?)
c.964-27del (n.964-27del)
c.934-27del (n.934-27del)
c.859-27del (n.859-27del)
c.757-27del (n.757-27del)
c.361del (p.Ile121SerfsTer?)
 ClinVar dbSNP
5g.112819241A>CCA16023950APCc.1209A>C (p.Glu403Asp)
n.1265A>C
c.*1215A>C (n.*1215A>C)
c.1155A>C (p.Glu385Asp)
c.*531A>C (n.*531A>C)
c.1239A>C (p.Glu413Asp)
c.1134A>C (p.Glu378Asp)
c.1125A>C (p.Glu375Asp)
c.1032A>C (p.Glu344Asp)
c.964-28A>C (n.964-28A>C)
c.934-28A>C (n.934-28A>C)
c.859-28A>C (n.859-28A>C)
c.757-28A>C (n.757-28A>C)
c.360A>C (p.Glu120Asp)
5g.112819241A>GCA445960348APCc.1209A>G (p.Glu403=)
n.1265A>G
c.*1215A>G (n.*1215A>G)
c.1155A>G (p.Glu385=)
c.*531A>G (n.*531A>G)
c.1239A>G (p.Glu413=)
c.1134A>G (p.Glu378=)
c.1125A>G (p.Glu375=)
c.1032A>G (p.Glu344=)
c.964-28A>G (n.964-28A>G)
c.934-28A>G (n.934-28A>G)
c.859-28A>G (n.859-28A>G)
c.757-28A>G (n.757-28A>G)
c.360A>G (p.Glu120=)
 dbSNP
5g.112819241A>TCA16023951APCc.1209A>T (p.Glu403Asp)
n.1265A>T
c.*1215A>T (n.*1215A>T)
c.1155A>T (p.Glu385Asp)
c.*531A>T (n.*531A>T)
c.1239A>T (p.Glu413Asp)
c.1134A>T (p.Glu378Asp)
c.1125A>T (p.Glu375Asp)
c.1032A>T (p.Glu344Asp)
c.964-28A>T (n.964-28A>T)
c.934-28A>T (n.934-28A>T)
c.859-28A>T (n.859-28A>T)
c.757-28A>T (n.757-28A>T)
c.360A>T (p.Glu120Asp)
 dbSNP
5g.112819242A>CCA16023952APCc.1210A>C (p.Ile404Leu)
n.1266A>C
c.*1216A>C (n.*1216A>C)
c.1156A>C (p.Ile386Leu)
c.*532A>C (n.*532A>C)
c.1240A>C (p.Ile414Leu)
c.1135A>C (p.Ile379Leu)
c.1126A>C (p.Ile376Leu)
c.1033A>C (p.Ile345Leu)
c.964-27A>C (n.964-27A>C)
c.934-27A>C (n.934-27A>C)
c.859-27A>C (n.859-27A>C)
c.757-27A>C (n.757-27A>C)
c.361A>C (p.Ile121Leu)
 dbSNP
5g.112819242A>GCA16023953APCc.1210A>G (p.Ile404Val)
n.1266A>G
c.*1216A>G (n.*1216A>G)
c.1156A>G (p.Ile386Val)
c.*532A>G (n.*532A>G)
c.1240A>G (p.Ile414Val)
c.1135A>G (p.Ile379Val)
c.1126A>G (p.Ile376Val)
c.1033A>G (p.Ile345Val)
c.964-27A>G (n.964-27A>G)
c.934-27A>G (n.934-27A>G)
c.859-27A>G (n.859-27A>G)
c.757-27A>G (n.757-27A>G)
c.361A>G (p.Ile121Val)
 ClinVar dbSNP
5g.112819242A>TCA16023954APCc.1210A>T (p.Ile404Phe)
n.1266A>T
c.*1216A>T (n.*1216A>T)
c.1156A>T (p.Ile386Phe)
c.*532A>T (n.*532A>T)
c.1240A>T (p.Ile414Phe)
c.1135A>T (p.Ile379Phe)
c.1126A>T (p.Ile376Phe)
c.1033A>T (p.Ile345Phe)
c.964-27A>T (n.964-27A>T)
c.934-27A>T (n.934-27A>T)
c.859-27A>T (n.859-27A>T)
c.757-27A>T (n.757-27A>T)
c.361A>T (p.Ile121Phe)
 dbSNP
5g.112819243T>ACA16023955APCc.1211T>A (p.Ile404Asn)
n.1267T>A
c.*1217T>A (n.*1217T>A)
c.1157T>A (p.Ile386Asn)
c.*533T>A (n.*533T>A)
c.1241T>A (p.Ile414Asn)
c.1136T>A (p.Ile379Asn)
c.1127T>A (p.Ile376Asn)
c.1034T>A (p.Ile345Asn)
c.964-26T>A (n.964-26T>A)
c.934-26T>A (n.934-26T>A)
c.859-26T>A (n.859-26T>A)
c.757-26T>A (n.757-26T>A)
c.362T>A (p.Ile121Asn)
 dbSNP
5g.112819243T>CCA16023956APCc.1211T>C (p.Ile404Thr)
n.1267T>C
c.*1217T>C (n.*1217T>C)
c.1157T>C (p.Ile386Thr)
c.*533T>C (n.*533T>C)
c.1241T>C (p.Ile414Thr)
c.1136T>C (p.Ile379Thr)
c.1127T>C (p.Ile376Thr)
c.1034T>C (p.Ile345Thr)
c.964-26T>C (n.964-26T>C)
c.934-26T>C (n.934-26T>C)
c.859-26T>C (n.859-26T>C)
c.757-26T>C (n.757-26T>C)
c.362T>C (p.Ile121Thr)
 ClinVar dbSNP gnomAD v4
5g.112819243T>GCA16023957APCc.1211T>G (p.Ile404Ser)
n.1267T>G
c.*1217T>G (n.*1217T>G)
c.1157T>G (p.Ile386Ser)
c.*533T>G (n.*533T>G)
c.1241T>G (p.Ile414Ser)
c.1136T>G (p.Ile379Ser)
c.1127T>G (p.Ile376Ser)
c.1034T>G (p.Ile345Ser)
c.964-26T>G (n.964-26T>G)
c.934-26T>G (n.934-26T>G)
c.859-26T>G (n.859-26T>G)
c.757-26T>G (n.757-26T>G)
c.362T>G (p.Ile121Ser)
5g.112819243T=CA1573492813APCc.1211T= (p.Ile404=)
n.1267T=
c.*1217T= (n.*1217T=)
c.1157T= (p.Ile386=)
c.*533T= (n.*533T=)
c.1241T= (p.Ile414=)
c.1136T= (p.Ile379=)
c.1127T= (p.Ile376=)
c.1034T= (p.Ile345=)
c.964-26T= (n.964-26T=)
c.934-26T= (n.934-26T=)
c.859-26T= (n.859-26T=)
c.757-26T= (n.757-26T=)
c.362T= (p.Ile121=)
5g.112819243_112819244delinsTCCA1573492812APCc.1211_1212delinsTC (p.Ile404=)
n.1267_1268delinsTC
c.*1217_*1218delinsTC (n.*1217_*1218delinsTC)
c.1157_1158delinsTC (p.Ile386=)
c.*533_*534delinsTC (n.*533_*534delinsTC)
c.1241_1242delinsTC (p.Ile414=)
c.1136_1137delinsTC (p.Ile379=)
c.1127_1128delinsTC (p.Ile376=)
c.1034_1035delinsTC (p.Ile345=)
c.964-26_964-25delinsTC (n.964-26_964-25delinsTC)
c.934-26_934-25delinsTC (n.934-26_934-25delinsTC)
c.859-26_859-25delinsTC (n.859-26_859-25delinsTC)
c.757-26_757-25delinsTC (n.757-26_757-25delinsTC)
c.362_363delinsTC (p.Ile121=)
5g.112819244C>ACA445960349APCc.1212C>A (p.Ile404=)
n.1268C>A
c.*1218C>A (n.*1218C>A)
c.1158C>A (p.Ile386=)
c.*534C>A (n.*534C>A)
c.1242C>A (p.Ile414=)
c.1137C>A (p.Ile379=)
c.1128C>A (p.Ile376=)
c.1035C>A (p.Ile345=)
c.964-25C>A (n.964-25C>A)
c.934-25C>A (n.934-25C>A)
c.859-25C>A (n.859-25C>A)
c.757-25C>A (n.757-25C>A)
c.363C>A (p.Ile121=)
 dbSNP
5g.112819244C=CA1573492837APCc.1212C= (p.Ile404=)
n.1268C=
c.*1218C= (n.*1218C=)
c.1158C= (p.Ile386=)
c.*534C= (n.*534C=)
c.1242C= (p.Ile414=)
c.1137C= (p.Ile379=)
c.1128C= (p.Ile376=)
c.1035C= (p.Ile345=)
c.964-25C= (n.964-25C=)
c.934-25C= (n.934-25C=)
c.859-25C= (n.859-25C=)
c.757-25C= (n.757-25C=)
c.363C= (p.Ile121=)
5g.112819244C>GCA16023958APCc.1212C>G (p.Ile404Met)
n.1268C>G
c.*1218C>G (n.*1218C>G)
c.1158C>G (p.Ile386Met)
c.*534C>G (n.*534C>G)
c.1242C>G (p.Ile414Met)
c.1137C>G (p.Ile379Met)
c.1128C>G (p.Ile376Met)
c.1035C>G (p.Ile345Met)
c.964-25C>G (n.964-25C>G)
c.934-25C>G (n.934-25C>G)
c.859-25C>G (n.859-25C>G)
c.757-25C>G (n.757-25C>G)
c.363C>G (p.Ile121Met)
 ClinVar dbSNP COSMIC
5g.112819244C>TCA445960350APCc.1212C>T (p.Ile404=)
n.1268C>T
c.*1218C>T (n.*1218C>T)
c.1158C>T (p.Ile386=)
c.*534C>T (n.*534C>T)
c.1242C>T (p.Ile414=)
c.1137C>T (p.Ile379=)
c.1128C>T (p.Ile376=)
c.1035C>T (p.Ile345=)
c.964-25C>T (n.964-25C>T)
c.934-25C>T (n.934-25C>T)
c.859-25C>T (n.859-25C>T)
c.757-25C>T (n.757-25C>T)
c.363C>T (p.Ile121=)
 ClinVar dbSNP
5g.112819245dupCA2695202714APCc.1213dup (p.Arg405ProfsTer14)
n.1269dup
c.*1219dup (n.*1219dup)
c.1159dup (p.Arg387ProfsTer14)
c.*535dup (n.*535dup)
c.1243dup (p.Arg415ProfsTer14)
c.1138dup (p.Arg380ProfsTer14)
c.1129dup (p.Arg377ProfsTer14)
c.1036dup (p.Arg346ProfsTer14)
c.964-24dup (n.964-24dup)
c.934-24dup (n.934-24dup)
c.859-24dup (n.859-24dup)
c.757-24dup (n.757-24dup)
c.364dup (p.Arg122ProfsTer14)
5g.112819245delCA645372771APCc.1213del (p.Arg405GlufsTer?)
n.1269del
c.*1219del (n.*1219del)
c.1159del (p.Arg387GlufsTer?)
c.*535del (n.*535del)
c.1243del (p.Arg415GlufsTer?)
c.1138del (p.Arg380GlufsTer?)
c.1129del (p.Arg377GlufsTer?)
c.1036del (p.Arg346GlufsTer?)
c.964-24del (n.964-24del)
c.934-24del (n.934-24del)
c.859-24del (n.859-24del)
c.757-24del (n.757-24del)
c.364del (p.Arg122GlufsTer?)
 ClinVar dbSNP
5g.112819245C>ACA445960351APCc.1213C>A (p.Arg405=)
n.1269C>A
c.*1219C>A (n.*1219C>A)
c.1159C>A (p.Arg387=)
c.*535C>A (n.*535C>A)
c.1243C>A (p.Arg415=)
c.1138C>A (p.Arg380=)
c.1129C>A (p.Arg377=)
c.1036C>A (p.Arg346=)
c.964-24C>A (n.964-24C>A)
c.934-24C>A (n.934-24C>A)
c.859-24C>A (n.859-24C>A)
c.757-24C>A (n.757-24C>A)
c.364C>A (p.Arg122=)
 ClinVar dbSNP
5g.112819245C=CA1573492847APCc.1213C= (p.Arg405=)
n.1269C=
c.*1219C= (n.*1219C=)
c.1159C= (p.Arg387=)
c.*535C= (n.*535C=)
c.1243C= (p.Arg415=)
c.1138C= (p.Arg380=)
c.1129C= (p.Arg377=)
c.1036C= (p.Arg346=)
c.964-24C= (n.964-24C=)
c.934-24C= (n.934-24C=)
c.859-24C= (n.859-24C=)
c.757-24C= (n.757-24C=)
c.364C= (p.Arg122=)
5g.112819245C>GCA16023959APCc.1213C>G (p.Arg405Gly)
n.1269C>G
c.*1219C>G (n.*1219C>G)
c.1159C>G (p.Arg387Gly)
c.*535C>G (n.*535C>G)
c.1243C>G (p.Arg415Gly)
c.1138C>G (p.Arg380Gly)
c.1129C>G (p.Arg377Gly)
c.1036C>G (p.Arg346Gly)
c.964-24C>G (n.964-24C>G)
c.934-24C>G (n.934-24C>G)
c.859-24C>G (n.859-24C>G)
c.757-24C>G (n.757-24C>G)
c.364C>G (p.Arg122Gly)
 dbSNP
5g.112819245C>TCA004094APCc.1213C>T (p.Arg405Ter)
n.1269C>T
c.*1219C>T (n.*1219C>T)
c.1159C>T (p.Arg387Ter)
c.*535C>T (n.*535C>T)
c.1243C>T (p.Arg415Ter)
c.1138C>T (p.Arg380Ter)
c.1129C>T (p.Arg377Ter)
c.1036C>T (p.Arg346Ter)
c.964-24C>T (n.964-24C>T)
c.934-24C>T (n.934-24C>T)
c.859-24C>T (n.859-24C>T)
c.757-24C>T (n.757-24C>T)
c.364C>T (p.Arg122Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.112819246G>ACA004099APCc.1214G>A (p.Arg405Gln)
n.1270G>A
c.*1220G>A (n.*1220G>A)
c.1160G>A (p.Arg387Gln)
c.*536G>A (n.*536G>A)
c.1244G>A (p.Arg415Gln)
c.1139G>A (p.Arg380Gln)
c.1130G>A (p.Arg377Gln)
c.1037G>A (p.Arg346Gln)
c.964-23G>A (n.964-23G>A)
c.934-23G>A (n.934-23G>A)
c.859-23G>A (n.859-23G>A)
c.757-23G>A (n.757-23G>A)
c.365G>A (p.Arg122Gln)
 ClinVar dbSNP gnomAD v4
5g.112819246G>CCA16023960APCc.1214G>C (p.Arg405Pro)
n.1270G>C
c.*1220G>C (n.*1220G>C)
c.1160G>C (p.Arg387Pro)
c.*536G>C (n.*536G>C)
c.1244G>C (p.Arg415Pro)
c.1139G>C (p.Arg380Pro)
c.1130G>C (p.Arg377Pro)
c.1037G>C (p.Arg346Pro)
c.964-23G>C (n.964-23G>C)
c.934-23G>C (n.934-23G>C)
c.859-23G>C (n.859-23G>C)
c.757-23G>C (n.757-23G>C)
c.365G>C (p.Arg122Pro)
 dbSNP
5g.112819246G=CA1573492855APCc.1214G= (p.Arg405=)
n.1270G=
c.*1220G= (n.*1220G=)
c.1160G= (p.Arg387=)
c.*536G= (n.*536G=)
c.1244G= (p.Arg415=)
c.1139G= (p.Arg380=)
c.1130G= (p.Arg377=)
c.1037G= (p.Arg346=)
c.964-23G= (n.964-23G=)
c.934-23G= (n.934-23G=)
c.859-23G= (n.859-23G=)
c.757-23G= (n.757-23G=)
c.365G= (p.Arg122=)
5g.112819246G>TCA16023961APCc.1214G>T (p.Arg405Leu)
n.1270G>T
c.*1220G>T (n.*1220G>T)
c.1160G>T (p.Arg387Leu)
c.*536G>T (n.*536G>T)
c.1244G>T (p.Arg415Leu)
c.1139G>T (p.Arg380Leu)
c.1130G>T (p.Arg377Leu)
c.1037G>T (p.Arg346Leu)
c.964-23G>T (n.964-23G>T)
c.934-23G>T (n.934-23G>T)
c.859-23G>T (n.859-23G>T)
c.757-23G>T (n.757-23G>T)
c.365G>T (p.Arg122Leu)
 dbSNP
5g.112819247A>CCA445960352APCc.1215A>C (p.Arg405=)
n.1271A>C
c.*1221A>C (n.*1221A>C)
c.1161A>C (p.Arg387=)
c.*537A>C (n.*537A>C)
c.1245A>C (p.Arg415=)
c.1140A>C (p.Arg380=)
c.1131A>C (p.Arg377=)
c.1038A>C (p.Arg346=)
c.964-22A>C (n.964-22A>C)
c.934-22A>C (n.934-22A>C)
c.859-22A>C (n.859-22A>C)
c.757-22A>C (n.757-22A>C)
c.366A>C (p.Arg122=)
5g.112819247A>GCA445960354APCc.1215A>G (p.Arg405=)
n.1271A>G
c.*1221A>G (n.*1221A>G)
c.1161A>G (p.Arg387=)
c.*537A>G (n.*537A>G)
c.1245A>G (p.Arg415=)
c.1140A>G (p.Arg380=)
c.1131A>G (p.Arg377=)
c.1038A>G (p.Arg346=)
c.964-22A>G (n.964-22A>G)
c.934-22A>G (n.934-22A>G)
c.859-22A>G (n.859-22A>G)
c.757-22A>G (n.757-22A>G)
c.366A>G (p.Arg122=)
 dbSNP
5g.112819247A>TCA445960353APCc.1215A>T (p.Arg405=)
n.1271A>T
c.*1221A>T (n.*1221A>T)
c.1161A>T (p.Arg387=)
c.*537A>T (n.*537A>T)
c.1245A>T (p.Arg415=)
c.1140A>T (p.Arg380=)
c.1131A>T (p.Arg377=)
c.1038A>T (p.Arg346=)
c.964-22A>T (n.964-22A>T)
c.934-22A>T (n.934-22A>T)
c.859-22A>T (n.859-22A>T)
c.757-22A>T (n.757-22A>T)
c.366A>T (p.Arg122=)
 ClinVar dbSNP
5g.112819248G>ACA16023962APCc.1216G>A (p.Val406Ile)
n.1272G>A
c.*1222G>A (n.*1222G>A)
c.1162G>A (p.Val388Ile)
c.*538G>A (n.*538G>A)
c.1246G>A (p.Val416Ile)
c.1141G>A (p.Val381Ile)
c.1132G>A (p.Val378Ile)
c.1039G>A (p.Val347Ile)
c.964-21G>A (n.964-21G>A)
c.934-21G>A (n.934-21G>A)
c.859-21G>A (n.859-21G>A)
c.757-21G>A (n.757-21G>A)
c.367G>A (p.Val123Ile)
 ClinVar dbSNP
5g.112819248G>CCA16023963APCc.1216G>C (p.Val406Leu)
n.1272G>C
c.*1222G>C (n.*1222G>C)
c.1162G>C (p.Val388Leu)
c.*538G>C (n.*538G>C)
c.1246G>C (p.Val416Leu)
c.1141G>C (p.Val381Leu)
c.1132G>C (p.Val378Leu)
c.1039G>C (p.Val347Leu)
c.964-21G>C (n.964-21G>C)
c.934-21G>C (n.934-21G>C)
c.859-21G>C (n.859-21G>C)
c.757-21G>C (n.757-21G>C)
c.367G>C (p.Val123Leu)
 dbSNP
5g.112819248G=CA1573492863APCc.1216G= (p.Val406=)
n.1272G=
c.*1222G= (n.*1222G=)
c.1162G= (p.Val388=)
c.*538G= (n.*538G=)
c.1246G= (p.Val416=)
c.1141G= (p.Val381=)
c.1132G= (p.Val378=)
c.1039G= (p.Val347=)
c.964-21G= (n.964-21G=)
c.934-21G= (n.934-21G=)
c.859-21G= (n.859-21G=)
c.757-21G= (n.757-21G=)
c.367G= (p.Val123=)
5g.112819248G>TCA16023964APCc.1216G>T (p.Val406Phe)
n.1272G>T
c.*1222G>T (n.*1222G>T)
c.1162G>T (p.Val388Phe)
c.*538G>T (n.*538G>T)
c.1246G>T (p.Val416Phe)
c.1141G>T (p.Val381Phe)
c.1132G>T (p.Val378Phe)
c.1039G>T (p.Val347Phe)
c.964-21G>T (n.964-21G>T)
c.934-21G>T (n.934-21G>T)
c.859-21G>T (n.859-21G>T)
c.757-21G>T (n.757-21G>T)
c.367G>T (p.Val123Phe)
 dbSNP
5g.112819249T>ACA16023965APCc.1217T>A (p.Val406Asp)
n.1273T>A
c.*1223T>A (n.*1223T>A)
c.1163T>A (p.Val388Asp)
c.*539T>A (n.*539T>A)
c.1247T>A (p.Val416Asp)
c.1142T>A (p.Val381Asp)
c.1133T>A (p.Val378Asp)
c.1040T>A (p.Val347Asp)
c.964-20T>A (n.964-20T>A)
c.934-20T>A (n.934-20T>A)
c.859-20T>A (n.859-20T>A)
c.757-20T>A (n.757-20T>A)
c.368T>A (p.Val123Asp)
 dbSNP COSMIC
5g.112819249T>CCA16023966APCc.1217T>C (p.Val406Ala)
n.1273T>C
c.*1223T>C (n.*1223T>C)
c.1163T>C (p.Val388Ala)
c.*539T>C (n.*539T>C)
c.1247T>C (p.Val416Ala)
c.1142T>C (p.Val381Ala)
c.1133T>C (p.Val378Ala)
c.1040T>C (p.Val347Ala)
c.964-20T>C (n.964-20T>C)
c.934-20T>C (n.934-20T>C)
c.859-20T>C (n.859-20T>C)
c.757-20T>C (n.757-20T>C)
c.368T>C (p.Val123Ala)
 dbSNP gnomAD v4 COSMIC
5g.112819249T>GCA16023967APCc.1217T>G (p.Val406Gly)
n.1273T>G
c.*1223T>G (n.*1223T>G)
c.1163T>G (p.Val388Gly)
c.*539T>G (n.*539T>G)
c.1247T>G (p.Val416Gly)
c.1142T>G (p.Val381Gly)
c.1133T>G (p.Val378Gly)
c.1040T>G (p.Val347Gly)
c.964-20T>G (n.964-20T>G)
c.934-20T>G (n.934-20T>G)
c.859-20T>G (n.859-20T>G)
c.757-20T>G (n.757-20T>G)
c.368T>G (p.Val123Gly)
 dbSNP
5g.112819249_112819250delinsTCCA1573492877APCc.1217_1218delinsTC (p.Val406=)
n.1273_1274delinsTC
c.*1223_*1224delinsTC (n.*1223_*1224delinsTC)
c.1163_1164delinsTC (p.Val388=)
c.*539_*540delinsTC (n.*539_*540delinsTC)
c.1247_1248delinsTC (p.Val416=)
c.1142_1143delinsTC (p.Val381=)
c.1133_1134delinsTC (p.Val378=)
c.1040_1041delinsTC (p.Val347=)
c.964-20_964-19delinsTC (n.964-20_964-19delinsTC)
c.934-20_934-19delinsTC (n.934-20_934-19delinsTC)
c.859-20_859-19delinsTC (n.859-20_859-19delinsTC)
c.757-20_757-19delinsTC (n.757-20_757-19delinsTC)
c.368_369delinsTC (p.Val123=)
5g.112819250C>ACA445960355APCc.1218C>A (p.Val406=)
n.1274C>A
c.*1224C>A (n.*1224C>A)
c.1164C>A (p.Val388=)
c.*540C>A (n.*540C>A)
c.1248C>A (p.Val416=)
c.1143C>A (p.Val381=)
c.1134C>A (p.Val378=)
c.1041C>A (p.Val347=)
c.964-19C>A (n.964-19C>A)
c.934-19C>A (n.934-19C>A)
c.859-19C>A (n.859-19C>A)
c.757-19C>A (n.757-19C>A)
c.369C>A (p.Val123=)
 dbSNP COSMIC
5g.112819250C=CA1573492893APCc.1218C= (p.Val406=)
n.1274C=
c.*1224C= (n.*1224C=)
c.1164C= (p.Val388=)
c.*540C= (n.*540C=)
c.1248C= (p.Val416=)
c.1143C= (p.Val381=)
c.1134C= (p.Val378=)
c.1041C= (p.Val347=)
c.964-19C= (n.964-19C=)
c.934-19C= (n.934-19C=)
c.859-19C= (n.859-19C=)
c.757-19C= (n.757-19C=)
c.369C= (p.Val123=)
5g.112819250C>GCA445960356APCc.1218C>G (p.Val406=)
n.1274C>G
c.*1224C>G (n.*1224C>G)
c.1164C>G (p.Val388=)
c.*540C>G (n.*540C>G)
c.1248C>G (p.Val416=)
c.1143C>G (p.Val381=)
c.1134C>G (p.Val378=)
c.1041C>G (p.Val347=)
c.964-19C>G (n.964-19C>G)
c.934-19C>G (n.934-19C>G)
c.859-19C>G (n.859-19C>G)
c.757-19C>G (n.757-19C>G)
c.369C>G (p.Val123=)
 dbSNP
5g.112819250C>TCA445960357APCc.1218C>T (p.Val406=)
n.1274C>T
c.*1224C>T (n.*1224C>T)
c.1164C>T (p.Val388=)
c.*540C>T (n.*540C>T)
c.1248C>T (p.Val416=)
c.1143C>T (p.Val381=)
c.1134C>T (p.Val378=)
c.1041C>T (p.Val347=)
c.964-19C>T (n.964-19C>T)
c.934-19C>T (n.934-19C>T)
c.859-19C>T (n.859-19C>T)
c.757-19C>T (n.757-19C>T)
c.369C>T (p.Val123=)
 ClinVar dbSNP gnomAD v4
5g.112819251delCA645369345APCc.1219del (p.Leu407PhefsTer?)
n.1275del
c.*1225del (n.*1225del)
c.1165del (p.Leu389PhefsTer?)
c.*541del (n.*541del)
c.1249del (p.Leu417PhefsTer?)
c.1144del (p.Leu382PhefsTer?)
c.1135del (p.Leu379PhefsTer?)
c.1042del (p.Leu348PhefsTer?)
c.964-18del (n.964-18del)
c.934-18del (n.934-18del)
c.859-18del (n.859-18del)
c.757-18del (n.757-18del)
c.370del (p.Leu124PhefsTer?)
 ClinVar dbSNP
5g.112819251C>ACA16023968APCc.1219C>A (p.Leu407Ile)
n.1275C>A
c.*1225C>A (n.*1225C>A)
c.1165C>A (p.Leu389Ile)
c.*541C>A (n.*541C>A)
c.1249C>A (p.Leu417Ile)
c.1144C>A (p.Leu382Ile)
c.1135C>A (p.Leu379Ile)
c.1042C>A (p.Leu348Ile)
c.964-18C>A (n.964-18C>A)
c.934-18C>A (n.934-18C>A)
c.859-18C>A (n.859-18C>A)
c.757-18C>A (n.757-18C>A)
c.370C>A (p.Leu124Ile)
 dbSNP
5g.112819251C=CA1573492902APCc.1219C= (p.Leu407=)
n.1275C=
c.*1225C= (n.*1225C=)
c.1165C= (p.Leu389=)
c.*541C= (n.*541C=)
c.1249C= (p.Leu417=)
c.1144C= (p.Leu382=)
c.1135C= (p.Leu379=)
c.1042C= (p.Leu348=)
c.964-18C= (n.964-18C=)
c.934-18C= (n.934-18C=)
c.859-18C= (n.859-18C=)
c.757-18C= (n.757-18C=)
c.370C= (p.Leu124=)
5g.112819251C>GCA16023969APCc.1219C>G (p.Leu407Val)
n.1275C>G
c.*1225C>G (n.*1225C>G)
c.1165C>G (p.Leu389Val)
c.*541C>G (n.*541C>G)
c.1249C>G (p.Leu417Val)
c.1144C>G (p.Leu382Val)
c.1135C>G (p.Leu379Val)
c.1042C>G (p.Leu348Val)
c.964-18C>G (n.964-18C>G)
c.934-18C>G (n.934-18C>G)
c.859-18C>G (n.859-18C>G)
c.757-18C>G (n.757-18C>G)
c.370C>G (p.Leu124Val)
 ClinVar dbSNP
5g.112819251C>TCA16023970APCc.1219C>T (p.Leu407Phe)
n.1275C>T
c.*1225C>T (n.*1225C>T)
c.1165C>T (p.Leu389Phe)
c.*541C>T (n.*541C>T)
c.1249C>T (p.Leu417Phe)
c.1144C>T (p.Leu382Phe)
c.1135C>T (p.Leu379Phe)
c.1042C>T (p.Leu348Phe)
c.964-18C>T (n.964-18C>T)
c.934-18C>T (n.934-18C>T)
c.859-18C>T (n.859-18C>T)
c.757-18C>T (n.757-18C>T)
c.370C>T (p.Leu124Phe)
 dbSNP COSMIC
5g.112819252T>ACA16023971APCc.1220T>A (p.Leu407His)
n.1276T>A
c.*1226T>A (n.*1226T>A)
c.1166T>A (p.Leu389His)
c.*542T>A (n.*542T>A)
c.1250T>A (p.Leu417His)
c.1145T>A (p.Leu382His)
c.1136T>A (p.Leu379His)
c.1043T>A (p.Leu348His)
c.964-17T>A (n.964-17T>A)
c.934-17T>A (n.934-17T>A)
c.859-17T>A (n.859-17T>A)
c.757-17T>A (n.757-17T>A)
c.371T>A (p.Leu124His)
5g.112819252T>CCA16023972APCc.1220T>C (p.Leu407Pro)
n.1276T>C
c.*1226T>C (n.*1226T>C)
c.1166T>C (p.Leu389Pro)
c.*542T>C (n.*542T>C)
c.1250T>C (p.Leu417Pro)
c.1145T>C (p.Leu382Pro)
c.1136T>C (p.Leu379Pro)
c.1043T>C (p.Leu348Pro)
c.964-17T>C (n.964-17T>C)
c.934-17T>C (n.934-17T>C)
c.859-17T>C (n.859-17T>C)
c.757-17T>C (n.757-17T>C)
c.371T>C (p.Leu124Pro)
5g.112819252T>GCA16023973APCc.1220T>G (p.Leu407Arg)
n.1276T>G
c.*1226T>G (n.*1226T>G)
c.1166T>G (p.Leu389Arg)
c.*542T>G (n.*542T>G)
c.1250T>G (p.Leu417Arg)
c.1145T>G (p.Leu382Arg)
c.1136T>G (p.Leu379Arg)
c.1043T>G (p.Leu348Arg)
c.964-17T>G (n.964-17T>G)
c.934-17T>G (n.934-17T>G)
c.859-17T>G (n.859-17T>G)
c.757-17T>G (n.757-17T>G)
c.371T>G (p.Leu124Arg)
5g.112819253T>ACA445960358APCc.1221T>A (p.Leu407=)
n.1277T>A
c.*1227T>A (n.*1227T>A)
c.1167T>A (p.Leu389=)
c.*543T>A (n.*543T>A)
c.1251T>A (p.Leu417=)
c.1146T>A (p.Leu382=)
c.1137T>A (p.Leu379=)
c.1044T>A (p.Leu348=)
c.964-16T>A (n.964-16T>A)
c.934-16T>A (n.934-16T>A)
c.859-16T>A (n.859-16T>A)
c.757-16T>A (n.757-16T>A)
c.372T>A (p.Leu124=)
 dbSNP
5g.112819253T>CCA445960359APCc.1221T>C (p.Leu407=)
n.1277T>C
c.*1227T>C (n.*1227T>C)
c.1167T>C (p.Leu389=)
c.*543T>C (n.*543T>C)
c.1251T>C (p.Leu417=)
c.1146T>C (p.Leu382=)
c.1137T>C (p.Leu379=)
c.1044T>C (p.Leu348=)
c.964-16T>C (n.964-16T>C)
c.934-16T>C (n.934-16T>C)
c.859-16T>C (n.859-16T>C)
c.757-16T>C (n.757-16T>C)
c.372T>C (p.Leu124=)
 ClinVar dbSNP
5g.112819253T>GCA445960360APCc.1221T>G (p.Leu407=)
n.1277T>G
c.*1227T>G (n.*1227T>G)
c.1167T>G (p.Leu389=)
c.*543T>G (n.*543T>G)
c.1251T>G (p.Leu417=)
c.1146T>G (p.Leu382=)
c.1137T>G (p.Leu379=)
c.1044T>G (p.Leu348=)
c.964-16T>G (n.964-16T>G)
c.934-16T>G (n.934-16T>G)
c.859-16T>G (n.859-16T>G)
c.757-16T>G (n.757-16T>G)
c.372T>G (p.Leu124=)
 ClinVar dbSNP
5g.112819254C>ACA16023974APCc.1222C>A (p.His408Asn)
n.1278C>A
c.*1228C>A (n.*1228C>A)
c.1168C>A (p.His390Asn)
c.*544C>A (n.*544C>A)
c.1252C>A (p.His418Asn)
c.1147C>A (p.His383Asn)
c.1138C>A (p.His380Asn)
c.1045C>A (p.His349Asn)
c.964-15C>A (n.964-15C>A)
c.934-15C>A (n.934-15C>A)
c.859-15C>A (n.859-15C>A)
c.757-15C>A (n.757-15C>A)
c.373C>A (p.His125Asn)
 dbSNP
5g.112819254C>GCA16023975APCc.1222C>G (p.His408Asp)
n.1278C>G
c.*1228C>G (n.*1228C>G)
c.1168C>G (p.His390Asp)
c.*544C>G (n.*544C>G)
c.1252C>G (p.His418Asp)
c.1147C>G (p.His383Asp)
c.1138C>G (p.His380Asp)
c.1045C>G (p.His349Asp)
c.964-15C>G (n.964-15C>G)
c.934-15C>G (n.934-15C>G)
c.859-15C>G (n.859-15C>G)
c.757-15C>G (n.757-15C>G)
c.373C>G (p.His125Asp)
 dbSNP
5g.112819254C>TCA16023976APCc.1222C>T (p.His408Tyr)
n.1278C>T
c.*1228C>T (n.*1228C>T)
c.1168C>T (p.His390Tyr)
c.*544C>T (n.*544C>T)
c.1252C>T (p.His418Tyr)
c.1147C>T (p.His383Tyr)
c.1138C>T (p.His380Tyr)
c.1045C>T (p.His349Tyr)
c.964-15C>T (n.964-15C>T)
c.934-15C>T (n.934-15C>T)
c.859-15C>T (n.859-15C>T)
c.757-15C>T (n.757-15C>T)
c.373C>T (p.His125Tyr)
 ClinVar dbSNP
5g.112819254dupCA2582341266APCc.1222dup (p.His408ProfsTer11)
n.1278dup
c.*1228dup (n.*1228dup)
c.1168dup (p.His390ProfsTer11)
c.*544dup (n.*544dup)
c.1252dup (p.His418ProfsTer11)
c.1147dup (p.His383ProfsTer11)
c.1138dup (p.His380ProfsTer11)
c.1045dup (p.His349ProfsTer11)
c.964-15dup (n.964-15dup)
c.934-15dup (n.934-15dup)
c.859-15dup (n.859-15dup)
c.757-15dup (n.757-15dup)
c.373dup (p.His125ProfsTer11)
 ClinVar
5g.112819255A=CA1573492911APCc.1223A= (p.His408=)
n.1279A=
c.*1229A= (n.*1229A=)
c.1169A= (p.His390=)
c.*545A= (n.*545A=)
c.1253A= (p.His418=)
c.1148A= (p.His383=)
c.1139A= (p.His380=)
c.1046A= (p.His349=)
c.964-14A= (n.964-14A=)
c.934-14A= (n.934-14A=)
c.859-14A= (n.859-14A=)
c.757-14A= (n.757-14A=)
c.374A= (p.His125=)
5g.112819255A>CCA16023977APCc.1223A>C (p.His408Pro)
n.1279A>C
c.*1229A>C (n.*1229A>C)
c.1169A>C (p.His390Pro)
c.*545A>C (n.*545A>C)
c.1253A>C (p.His418Pro)
c.1148A>C (p.His383Pro)
c.1139A>C (p.His380Pro)
c.1046A>C (p.His349Pro)
c.964-14A>C (n.964-14A>C)
c.934-14A>C (n.934-14A>C)
c.859-14A>C (n.859-14A>C)
c.757-14A>C (n.757-14A>C)
c.374A>C (p.His125Pro)
 dbSNP
5g.112819255A>GCA16023978APCc.1223A>G (p.His408Arg)
n.1279A>G
c.*1229A>G (n.*1229A>G)
c.1169A>G (p.His390Arg)
c.*545A>G (n.*545A>G)
c.1253A>G (p.His418Arg)
c.1148A>G (p.His383Arg)
c.1139A>G (p.His380Arg)
c.1046A>G (p.His349Arg)
c.964-14A>G (n.964-14A>G)
c.934-14A>G (n.934-14A>G)
c.859-14A>G (n.859-14A>G)
c.757-14A>G (n.757-14A>G)
c.374A>G (p.His125Arg)
 ClinVar dbSNP gnomAD v4
5g.112819255A>TCA16023979APCc.1223A>T (p.His408Leu)
n.1279A>T
c.*1229A>T (n.*1229A>T)
c.1169A>T (p.His390Leu)
c.*545A>T (n.*545A>T)
c.1253A>T (p.His418Leu)
c.1148A>T (p.His383Leu)
c.1139A>T (p.His380Leu)
c.1046A>T (p.His349Leu)
c.964-14A>T (n.964-14A>T)
c.934-14A>T (n.934-14A>T)
c.859-14A>T (n.859-14A>T)
c.757-14A>T (n.757-14A>T)
c.374A>T (p.His125Leu)
 ClinVar dbSNP
5g.112819256T>ACA16023980APCc.1224T>A (p.His408Gln)
n.1280T>A
c.*1230T>A (n.*1230T>A)
c.1170T>A (p.His390Gln)
c.*546T>A (n.*546T>A)
c.1254T>A (p.His418Gln)
c.1149T>A (p.His383Gln)
c.1140T>A (p.His380Gln)
c.1047T>A (p.His349Gln)
c.964-13T>A (n.964-13T>A)
c.934-13T>A (n.934-13T>A)
c.859-13T>A (n.859-13T>A)
c.757-13T>A (n.757-13T>A)
c.375T>A (p.His125Gln)
 dbSNP
5g.112819256T>CCA445960361APCc.1224T>C (p.His408=)
n.1280T>C
c.*1230T>C (n.*1230T>C)
c.1170T>C (p.His390=)
c.*546T>C (n.*546T>C)
c.1254T>C (p.His418=)
c.1149T>C (p.His383=)
c.1140T>C (p.His380=)
c.1047T>C (p.His349=)
c.964-13T>C (n.964-13T>C)
c.934-13T>C (n.934-13T>C)
c.859-13T>C (n.859-13T>C)
c.757-13T>C (n.757-13T>C)
c.375T>C (p.His125=)
5g.112819256T>GCA16023981APCc.1224T>G (p.His408Gln)
n.1280T>G
c.*1230T>G (n.*1230T>G)
c.1170T>G (p.His390Gln)
c.*546T>G (n.*546T>G)
c.1254T>G (p.His418Gln)
c.1149T>G (p.His383Gln)
c.1140T>G (p.His380Gln)
c.1047T>G (p.His349Gln)
c.964-13T>G (n.964-13T>G)
c.934-13T>G (n.934-13T>G)
c.859-13T>G (n.859-13T>G)
c.757-13T>G (n.757-13T>G)
c.375T>G (p.His125Gln)
5g.112819257delCA658760540APCc.1225del (p.Leu409PhefsTer?)
n.1281del
c.*1231del (n.*1231del)
c.1171del (p.Leu391PhefsTer?)
c.*547del (n.*547del)
c.1255del (p.Leu419PhefsTer?)
c.1150del (p.Leu384PhefsTer?)
c.1141del (p.Leu381PhefsTer?)
c.1048del (p.Leu350PhefsTer?)
c.964-12del (n.964-12del)
c.934-12del (n.934-12del)
c.859-12del (n.859-12del)
c.757-12del (n.757-12del)
c.376del (p.Leu126PhefsTer?)
5g.112819257C>ACA16023982APCc.1225C>A (p.Leu409Ile)
n.1281C>A
c.*1231C>A (n.*1231C>A)
c.1171C>A (p.Leu391Ile)
c.*547C>A (n.*547C>A)
c.1255C>A (p.Leu419Ile)
c.1150C>A (p.Leu384Ile)
c.1141C>A (p.Leu381Ile)
c.1048C>A (p.Leu350Ile)
c.964-12C>A (n.964-12C>A)
c.934-12C>A (n.934-12C>A)
c.859-12C>A (n.859-12C>A)
c.757-12C>A (n.757-12C>A)
c.376C>A (p.Leu126Ile)
 ClinVar dbSNP COSMIC
5g.112819257C=CA1573492924APCc.1225C= (p.Leu409=)
n.1281C=
c.*1231C= (n.*1231C=)
c.1171C= (p.Leu391=)
c.*547C= (n.*547C=)
c.1255C= (p.Leu419=)
c.1150C= (p.Leu384=)
c.1141C= (p.Leu381=)
c.1048C= (p.Leu350=)
c.964-12C= (n.964-12C=)
c.934-12C= (n.934-12C=)
c.859-12C= (n.859-12C=)
c.757-12C= (n.757-12C=)
c.376C= (p.Leu126=)
5g.112819257C>GCA16023983APCc.1225C>G (p.Leu409Val)
n.1281C>G
c.*1231C>G (n.*1231C>G)
c.1171C>G (p.Leu391Val)
c.*547C>G (n.*547C>G)
c.1255C>G (p.Leu419Val)
c.1150C>G (p.Leu384Val)
c.1141C>G (p.Leu381Val)
c.1048C>G (p.Leu350Val)
c.964-12C>G (n.964-12C>G)
c.934-12C>G (n.934-12C>G)
c.859-12C>G (n.859-12C>G)
c.757-12C>G (n.757-12C>G)
c.376C>G (p.Leu126Val)
 COSMIC
5g.112819257C>TCA16023984APCc.1225C>T (p.Leu409Phe)
n.1281C>T
c.*1231C>T (n.*1231C>T)
c.1171C>T (p.Leu391Phe)
c.*547C>T (n.*547C>T)
c.1255C>T (p.Leu419Phe)
c.1150C>T (p.Leu384Phe)
c.1141C>T (p.Leu381Phe)
c.1048C>T (p.Leu350Phe)
c.964-12C>T (n.964-12C>T)
c.934-12C>T (n.934-12C>T)
c.859-12C>T (n.859-12C>T)
c.757-12C>T (n.757-12C>T)
c.376C>T (p.Leu126Phe)
 dbSNP
5g.112819257_112819258delinsCTCA1573492926APCc.1225_1226delinsCT (p.Leu409=)
n.1281_1282delinsCT
c.*1231_*1232delinsCT (n.*1231_*1232delinsCT)
c.1171_1172delinsCT (p.Leu391=)
c.*547_*548delinsCT (n.*547_*548delinsCT)
c.1255_1256delinsCT (p.Leu419=)
c.1150_1151delinsCT (p.Leu384=)
c.1141_1142delinsCT (p.Leu381=)
c.1048_1049delinsCT (p.Leu350=)
c.964-12_964-11delinsCT (n.964-12_964-11delinsCT)
c.934-12_934-11delinsCT (n.934-12_934-11delinsCT)
c.859-12_859-11delinsCT (n.859-12_859-11delinsCT)
c.757-12_757-11delinsCT (n.757-12_757-11delinsCT)
c.376_377delinsCT (p.Leu126=)
5g.112819258T>ACA16023985APCc.1226T>A (p.Leu409His)
n.1282T>A
c.*1232T>A (n.*1232T>A)
c.1172T>A (p.Leu391His)
c.*548T>A (n.*548T>A)
c.1256T>A (p.Leu419His)
c.1151T>A (p.Leu384His)
c.1142T>A (p.Leu381His)
c.1049T>A (p.Leu350His)
c.964-11T>A (n.964-11T>A)
c.934-11T>A (n.934-11T>A)
c.859-11T>A (n.859-11T>A)
c.757-11T>A (n.757-11T>A)
c.377T>A (p.Leu126His)
 dbSNP
5g.112819258T>CCA16023986APCc.1226T>C (p.Leu409Pro)
n.1282T>C
c.*1232T>C (n.*1232T>C)
c.1172T>C (p.Leu391Pro)
c.*548T>C (n.*548T>C)
c.1256T>C (p.Leu419Pro)
c.1151T>C (p.Leu384Pro)
c.1142T>C (p.Leu381Pro)
c.1049T>C (p.Leu350Pro)
c.964-11T>C (n.964-11T>C)
c.934-11T>C (n.934-11T>C)
c.859-11T>C (n.859-11T>C)
c.757-11T>C (n.757-11T>C)
c.377T>C (p.Leu126Pro)
 dbSNP
5g.112819258T>GCA16023987APCc.1226T>G (p.Leu409Arg)
n.1282T>G
c.*1232T>G (n.*1232T>G)
c.1172T>G (p.Leu391Arg)
c.*548T>G (n.*548T>G)
c.1256T>G (p.Leu419Arg)
c.1151T>G (p.Leu384Arg)
c.1142T>G (p.Leu381Arg)
c.1049T>G (p.Leu350Arg)
c.964-11T>G (n.964-11T>G)
c.934-11T>G (n.934-11T>G)
c.859-11T>G (n.859-11T>G)
c.757-11T>G (n.757-11T>G)
c.377T>G (p.Leu126Arg)
5g.112819258_112819261delinsAAACA2695202715APCc.1226_1229delinsAAA (p.Leu409GlnfsTer?)
n.1282_1285delinsAAA
c.*1232_*1235delinsAAA (n.*1232_*1235delinsAAA)
c.1172_1175delinsAAA (p.Leu391GlnfsTer?)
c.*548_*551delinsAAA (n.*548_*551delinsAAA)
c.1256_1259delinsAAA (p.Leu419GlnfsTer?)
c.1151_1154delinsAAA (p.Leu384GlnfsTer?)
c.1142_1145delinsAAA (p.Leu381GlnfsTer?)
c.1049_1052delinsAAA (p.Leu350GlnfsTer?)
c.964-11_964-8delinsAAA (n.964-11_964-8delinsAAA)
c.934-11_934-8delinsAAA (n.934-11_934-8delinsAAA)
c.859-11_859-8delinsAAA (n.859-11_859-8delinsAAA)
c.757-11_757-8delinsAAA (n.757-11_757-8delinsAAA)
c.377_380delinsAAA (p.Leu126GlnfsTer?)
5g.112819261dupCA279795APCc.1229dup (p.Leu410PhefsTer9)
n.1285dup
c.*1235dup (n.*1235dup)
c.1175dup (p.Leu392PhefsTer9)
c.*551dup (n.*551dup)
c.1259dup (p.Leu420PhefsTer9)
c.1154dup (p.Leu385PhefsTer9)
c.1145dup (p.Leu382PhefsTer9)
c.1052dup (p.Leu351PhefsTer9)
c.964-8dup (n.964-8dup)
c.934-8dup (n.934-8dup)
c.859-8dup (n.859-8dup)
c.757-8dup (n.757-8dup)
c.380dup (p.Leu127PhefsTer9)
 ClinVar dbSNP
5g.112819261delCA915942595APCc.1229del (p.Leu410TrpfsTer?)
n.1285del
c.*1235del (n.*1235del)
c.1175del (p.Leu392TrpfsTer?)
c.*551del (n.*551del)
c.1259del (p.Leu420TrpfsTer?)
c.1154del (p.Leu385TrpfsTer?)
c.1145del (p.Leu382TrpfsTer?)
c.1052del (p.Leu351TrpfsTer?)
c.964-8del (n.964-8del)
c.934-8del (n.934-8del)
c.859-8del (n.859-8del)
c.757-8del (n.757-8del)
c.380del (p.Leu127TrpfsTer?)
 ClinVar dbSNP
5g.112819259T>ACA445960362APCc.1227T>A (p.Leu409=)
n.1283T>A
c.*1233T>A (n.*1233T>A)
c.1173T>A (p.Leu391=)
c.*549T>A (n.*549T>A)
c.1257T>A (p.Leu419=)
c.1152T>A (p.Leu384=)
c.1143T>A (p.Leu381=)
c.1050T>A (p.Leu350=)
c.964-10T>A (n.964-10T>A)
c.934-10T>A (n.934-10T>A)
c.859-10T>A (n.859-10T>A)
c.757-10T>A (n.757-10T>A)
c.378T>A (p.Leu126=)
 dbSNP
5g.112819259T>CCA445960363APCc.1227T>C (p.Leu409=)
n.1283T>C
c.*1233T>C (n.*1233T>C)
c.1173T>C (p.Leu391=)
c.*549T>C (n.*549T>C)
c.1257T>C (p.Leu419=)
c.1152T>C (p.Leu384=)
c.1143T>C (p.Leu381=)
c.1050T>C (p.Leu350=)
c.964-10T>C (n.964-10T>C)
c.934-10T>C (n.934-10T>C)
c.859-10T>C (n.859-10T>C)
c.757-10T>C (n.757-10T>C)
c.378T>C (p.Leu126=)
5g.112819259T>GCA445960364APCc.1227T>G (p.Leu409=)
n.1283T>G
c.*1233T>G (n.*1233T>G)
c.1173T>G (p.Leu391=)
c.*549T>G (n.*549T>G)
c.1257T>G (p.Leu419=)
c.1152T>G (p.Leu384=)
c.1143T>G (p.Leu381=)
c.1050T>G (p.Leu350=)
c.964-10T>G (n.964-10T>G)
c.934-10T>G (n.934-10T>G)
c.859-10T>G (n.859-10T>G)
c.757-10T>G (n.757-10T>G)
c.378T>G (p.Leu126=)
 ClinVar dbSNP
5g.112819260T>ACA16023988APCc.1228T>A (p.Leu410Met)
n.1284T>A
c.*1234T>A (n.*1234T>A)
c.1174T>A (p.Leu392Met)
c.*550T>A (n.*550T>A)
c.1258T>A (p.Leu420Met)
c.1153T>A (p.Leu385Met)
c.1144T>A (p.Leu382Met)
c.1051T>A (p.Leu351Met)
c.964-9T>A (n.964-9T>A)
c.934-9T>A (n.934-9T>A)
c.859-9T>A (n.859-9T>A)
c.757-9T>A (n.757-9T>A)
c.379T>A (p.Leu127Met)
 dbSNP
5g.112819260T>CCA445960365APCc.1228T>C (p.Leu410=)
n.1284T>C
c.*1234T>C (n.*1234T>C)
c.1174T>C (p.Leu392=)
c.*550T>C (n.*550T>C)
c.1258T>C (p.Leu420=)
c.1153T>C (p.Leu385=)
c.1144T>C (p.Leu382=)
c.1051T>C (p.Leu351=)
c.964-9T>C (n.964-9T>C)
c.934-9T>C (n.934-9T>C)
c.859-9T>C (n.859-9T>C)
c.757-9T>C (n.757-9T>C)
c.379T>C (p.Leu127=)
 ClinVar dbSNP
5g.112819260T>GCA16023989APCc.1228T>G (p.Leu410Val)
n.1284T>G
c.*1234T>G (n.*1234T>G)
c.1174T>G (p.Leu392Val)
c.*550T>G (n.*550T>G)
c.1258T>G (p.Leu420Val)
c.1153T>G (p.Leu385Val)
c.1144T>G (p.Leu382Val)
c.1051T>G (p.Leu351Val)
c.964-9T>G (n.964-9T>G)
c.934-9T>G (n.934-9T>G)
c.859-9T>G (n.859-9T>G)
c.757-9T>G (n.757-9T>G)
c.379T>G (p.Leu127Val)
 dbSNP
5g.112819261T>ACA16023990APCc.1229T>A (p.Leu410Ter)
n.1285T>A
c.*1235T>A (n.*1235T>A)
c.1175T>A (p.Leu392Ter)
c.*551T>A (n.*551T>A)
c.1259T>A (p.Leu420Ter)
c.1154T>A (p.Leu385Ter)
c.1145T>A (p.Leu382Ter)
c.1052T>A (p.Leu351Ter)
c.964-8T>A (n.964-8T>A)
c.934-8T>A (n.934-8T>A)
c.859-8T>A (n.859-8T>A)
c.757-8T>A (n.757-8T>A)
c.380T>A (p.Leu127Ter)
5g.112819261T>CCA16023991APCc.1229T>C (p.Leu410Ser)
n.1285T>C
c.*1235T>C (n.*1235T>C)
c.1175T>C (p.Leu392Ser)
c.*551T>C (n.*551T>C)
c.1259T>C (p.Leu420Ser)
c.1154T>C (p.Leu385Ser)
c.1145T>C (p.Leu382Ser)
c.1052T>C (p.Leu351Ser)
c.964-8T>C (n.964-8T>C)
c.934-8T>C (n.934-8T>C)
c.859-8T>C (n.859-8T>C)
c.757-8T>C (n.757-8T>C)
c.380T>C (p.Leu127Ser)
 dbSNP
5g.112819261T>GCA16023992APCc.1229T>G (p.Leu410Trp)
n.1285T>G
c.*1235T>G (n.*1235T>G)
c.1175T>G (p.Leu392Trp)
c.*551T>G (n.*551T>G)
c.1259T>G (p.Leu420Trp)
c.1154T>G (p.Leu385Trp)
c.1145T>G (p.Leu382Trp)
c.1052T>G (p.Leu351Trp)
c.964-8T>G (n.964-8T>G)
c.934-8T>G (n.934-8T>G)
c.859-8T>G (n.859-8T>G)
c.757-8T>G (n.757-8T>G)
c.380T>G (p.Leu127Trp)
5g.112819261T=CA1573492936APCc.1229T= (p.Leu410=)
n.1285T=
c.*1235T= (n.*1235T=)
c.1175T= (p.Leu392=)
c.*551T= (n.*551T=)
c.1259T= (p.Leu420=)
c.1154T= (p.Leu385=)
c.1145T= (p.Leu382=)
c.1052T= (p.Leu351=)
c.964-8T= (n.964-8T=)
c.934-8T= (n.934-8T=)
c.859-8T= (n.859-8T=)
c.757-8T= (n.757-8T=)
c.380T= (p.Leu127=)
5g.112819262G>ACA445960366APCc.1230G>A (p.Leu410=)
n.1286G>A
c.*1236G>A (n.*1236G>A)
c.1176G>A (p.Leu392=)
c.*552G>A (n.*552G>A)
c.1260G>A (p.Leu420=)
c.1155G>A (p.Leu385=)
c.1146G>A (p.Leu382=)
c.1053G>A (p.Leu351=)
c.964-7G>A (n.964-7G>A)
c.934-7G>A (n.934-7G>A)
c.859-7G>A (n.859-7G>A)
c.757-7G>A (n.757-7G>A)
c.381G>A (p.Leu127=)
 ClinVar dbSNP
5g.112819262G>CCA16023993APCc.1230G>C (p.Leu410Phe)
n.1286G>C
c.*1236G>C (n.*1236G>C)
c.1176G>C (p.Leu392Phe)
c.*552G>C (n.*552G>C)
c.1260G>C (p.Leu420Phe)
c.1155G>C (p.Leu385Phe)
c.1146G>C (p.Leu382Phe)
c.1053G>C (p.Leu351Phe)
c.964-7G>C (n.964-7G>C)
c.934-7G>C (n.934-7G>C)
c.859-7G>C (n.859-7G>C)
c.757-7G>C (n.757-7G>C)
c.381G>C (p.Leu127Phe)
 dbSNP
5g.112819262G>TCA16023994APCc.1230G>T (p.Leu410Phe)
n.1286G>T
c.*1236G>T (n.*1236G>T)
c.1176G>T (p.Leu392Phe)
c.*552G>T (n.*552G>T)
c.1260G>T (p.Leu420Phe)
c.1155G>T (p.Leu385Phe)
c.1146G>T (p.Leu382Phe)
c.1053G>T (p.Leu351Phe)
c.964-7G>T (n.964-7G>T)
c.934-7G>T (n.934-7G>T)
c.859-7G>T (n.859-7G>T)
c.757-7G>T (n.757-7G>T)
c.381G>T (p.Leu127Phe)
 dbSNP
5g.112819263G>ACA16023995APCc.1231G>A (p.Glu411Lys)
n.1287G>A
c.*1237G>A (n.*1237G>A)
c.1177G>A (p.Glu393Lys)
c.*553G>A (n.*553G>A)
c.1261G>A (p.Glu421Lys)
c.1156G>A (p.Glu386Lys)
c.1147G>A (p.Glu383Lys)
c.1054G>A (p.Glu352Lys)
c.964-6G>A (n.964-6G>A)
c.934-6G>A (n.934-6G>A)
c.859-6G>A (n.859-6G>A)
c.757-6G>A (n.757-6G>A)
c.382G>A (p.Glu128Lys)
 ClinVar dbSNP
5g.112819263G>CCA16023996APCc.1231G>C (p.Glu411Gln)
n.1287G>C
c.*1237G>C (n.*1237G>C)
c.1177G>C (p.Glu393Gln)
c.*553G>C (n.*553G>C)
c.1261G>C (p.Glu421Gln)
c.1156G>C (p.Glu386Gln)
c.1147G>C (p.Glu383Gln)
c.1054G>C (p.Glu352Gln)
c.964-6G>C (n.964-6G>C)
c.934-6G>C (n.934-6G>C)
c.859-6G>C (n.859-6G>C)
c.757-6G>C (n.757-6G>C)
c.382G>C (p.Glu128Gln)
 dbSNP gnomAD v4
5g.112819263G>TCA16023997APCc.1231G>T (p.Glu411Ter)
n.1287G>T
c.*1237G>T (n.*1237G>T)
c.1177G>T (p.Glu393Ter)
c.*553G>T (n.*553G>T)
c.1261G>T (p.Glu421Ter)
c.1156G>T (p.Glu386Ter)
c.1147G>T (p.Glu383Ter)
c.1054G>T (p.Glu352Ter)
c.964-6G>T (n.964-6G>T)
c.934-6G>T (n.934-6G>T)
c.859-6G>T (n.859-6G>T)
c.757-6G>T (n.757-6G>T)
c.382G>T (p.Glu128Ter)
 dbSNP
5g.112819264A>CCA16023998APCc.1232A>C (p.Glu411Ala)
n.1288A>C
c.*1238A>C (n.*1238A>C)
c.1178A>C (p.Glu393Ala)
c.*554A>C (n.*554A>C)
c.1262A>C (p.Glu421Ala)
c.1157A>C (p.Glu386Ala)
c.1148A>C (p.Glu383Ala)
c.1055A>C (p.Glu352Ala)
c.964-5A>C (n.964-5A>C)
c.934-5A>C (n.934-5A>C)
c.859-5A>C (n.859-5A>C)
c.757-5A>C (n.757-5A>C)
c.383A>C (p.Glu128Ala)
5g.112819264A>GCA16023999APCc.1232A>G (p.Glu411Gly)
n.1288A>G
c.*1238A>G (n.*1238A>G)
c.1178A>G (p.Glu393Gly)
c.*554A>G (n.*554A>G)
c.1262A>G (p.Glu421Gly)
c.1157A>G (p.Glu386Gly)
c.1148A>G (p.Glu383Gly)
c.1055A>G (p.Glu352Gly)
c.964-5A>G (n.964-5A>G)
c.934-5A>G (n.934-5A>G)
c.859-5A>G (n.859-5A>G)
c.757-5A>G (n.757-5A>G)
c.383A>G (p.Glu128Gly)
5g.112819264A>TCA16024000APCc.1232A>T (p.Glu411Val)
n.1288A>T
c.*1238A>T (n.*1238A>T)
c.1178A>T (p.Glu393Val)
c.*554A>T (n.*554A>T)
c.1262A>T (p.Glu421Val)
c.1157A>T (p.Glu386Val)
c.1148A>T (p.Glu383Val)
c.1055A>T (p.Glu352Val)
c.964-5A>T (n.964-5A>T)
c.934-5A>T (n.934-5A>T)
c.859-5A>T (n.859-5A>T)
c.757-5A>T (n.757-5A>T)
c.383A>T (p.Glu128Val)
 dbSNP
5g.112819265A>CCA16024001APCc.1233A>C (p.Glu411Asp)
n.1289A>C
c.*1239A>C (n.*1239A>C)
c.1179A>C (p.Glu393Asp)
c.*555A>C (n.*555A>C)
c.1263A>C (p.Glu421Asp)
c.1158A>C (p.Glu386Asp)
c.1149A>C (p.Glu383Asp)
c.1056A>C (p.Glu352Asp)
c.964-4A>C (n.964-4A>C)
c.934-4A>C (n.934-4A>C)
c.859-4A>C (n.859-4A>C)
c.757-4A>C (n.757-4A>C)
c.384A>C (p.Glu128Asp)
 dbSNP
5g.112819265A>GCA445960367APCc.1233A>G (p.Glu411=)
n.1289A>G
c.*1239A>G (n.*1239A>G)
c.1179A>G (p.Glu393=)
c.*555A>G (n.*555A>G)
c.1263A>G (p.Glu421=)
c.1158A>G (p.Glu386=)
c.1149A>G (p.Glu383=)
c.1056A>G (p.Glu352=)
c.964-4A>G (n.964-4A>G)
c.934-4A>G (n.934-4A>G)
c.859-4A>G (n.859-4A>G)
c.757-4A>G (n.757-4A>G)
c.384A>G (p.Glu128=)
 dbSNP
5g.112819265A>TCA16024002APCc.1233A>T (p.Glu411Asp)
n.1289A>T
c.*1239A>T (n.*1239A>T)
c.1179A>T (p.Glu393Asp)
c.*555A>T (n.*555A>T)
c.1263A>T (p.Glu421Asp)
c.1158A>T (p.Glu386Asp)
c.1149A>T (p.Glu383Asp)
c.1056A>T (p.Glu352Asp)
c.964-4A>T (n.964-4A>T)
c.934-4A>T (n.934-4A>T)
c.859-4A>T (n.859-4A>T)
c.757-4A>T (n.757-4A>T)
c.384A>T (p.Glu128Asp)
 dbSNP
5g.112819266C>ACA16024003APCc.1234C>A (p.Gln412Lys)
n.1290C>A
c.*1240C>A (n.*1240C>A)
c.1180C>A (p.Gln394Lys)
c.*556C>A (n.*556C>A)
c.1264C>A (p.Gln422Lys)
c.1159C>A (p.Gln387Lys)
c.1150C>A (p.Gln384Lys)
c.1057C>A (p.Gln353Lys)
c.964-3C>A (n.964-3C>A)
c.934-3C>A (n.934-3C>A)
c.859-3C>A (n.859-3C>A)
c.757-3C>A (n.757-3C>A)
c.385C>A (p.Gln129Lys)
5g.112819266C=CA1573492940APCc.1234C= (p.Gln412=)
n.1290C=
c.*1240C= (n.*1240C=)
c.1180C= (p.Gln394=)
c.*556C= (n.*556C=)
c.1264C= (p.Gln422=)
c.1159C= (p.Gln387=)
c.1150C= (p.Gln384=)
c.1057C= (p.Gln353=)
c.964-3C= (n.964-3C=)
c.934-3C= (n.934-3C=)
c.859-3C= (n.859-3C=)
c.757-3C= (n.757-3C=)
c.385C= (p.Gln129=)
5g.112819266C>GCA16024004APCc.1234C>G (p.Gln412Glu)
n.1290C>G
c.*1240C>G (n.*1240C>G)
c.1180C>G (p.Gln394Glu)
c.*556C>G (n.*556C>G)
c.1264C>G (p.Gln422Glu)
c.1159C>G (p.Gln387Glu)
c.1150C>G (p.Gln384Glu)
c.1057C>G (p.Gln353Glu)
c.964-3C>G (n.964-3C>G)
c.934-3C>G (n.934-3C>G)
c.859-3C>G (n.859-3C>G)
c.757-3C>G (n.757-3C>G)
c.385C>G (p.Gln129Glu)
 ClinVar dbSNP
5g.112819266C>TCA10578310APCc.1234C>T (p.Gln412Ter)
n.1290C>T
c.*1240C>T (n.*1240C>T)
c.1180C>T (p.Gln394Ter)
c.*556C>T (n.*556C>T)
c.1264C>T (p.Gln422Ter)
c.1159C>T (p.Gln387Ter)
c.1150C>T (p.Gln384Ter)
c.1057C>T (p.Gln353Ter)
c.964-3C>T (n.964-3C>T)
c.934-3C>T (n.934-3C>T)
c.859-3C>T (n.859-3C>T)
c.757-3C>T (n.757-3C>T)
c.385C>T (p.Gln129Ter)
 ClinVar dbSNP COSMIC
5g.112819267delCA2582341268APCc.1235del (p.Gln412ArgfsTer?)
n.1291del
c.*1241del (n.*1241del)
c.1181del (p.Gln394ArgfsTer?)
c.*557del (n.*557del)
c.1265del (p.Gln422ArgfsTer?)
c.1160del (p.Gln387ArgfsTer?)
c.1151del (p.Gln384ArgfsTer?)
c.1058del (p.Gln353ArgfsTer?)
c.964-2del (n.964-2del)
c.934-2del (n.934-2del)
c.859-2del (n.859-2del)
c.757-2del (n.757-2del)
c.386del (p.Gln129ArgfsTer?)
 ClinVar
5g.112819267A>CCA16024005APCc.1235A>C (p.Gln412Pro)
n.1291A>C
c.*1241A>C (n.*1241A>C)
c.1181A>C (p.Gln394Pro)
c.*557A>C (n.*557A>C)
c.1265A>C (p.Gln422Pro)
c.1160A>C (p.Gln387Pro)
c.1151A>C (p.Gln384Pro)
c.1058A>C (p.Gln353Pro)
c.964-2A>C (n.964-2A>C)
c.934-2A>C (n.934-2A>C)
c.859-2A>C (n.859-2A>C)
c.757-2A>C (n.757-2A>C)
c.386A>C (p.Gln129Pro)
5g.112819267A>GCA16024006APCc.1235A>G (p.Gln412Arg)
n.1291A>G
c.*1241A>G (n.*1241A>G)
c.1181A>G (p.Gln394Arg)
c.*557A>G (n.*557A>G)
c.1265A>G (p.Gln422Arg)
c.1160A>G (p.Gln387Arg)
c.1151A>G (p.Gln384Arg)
c.1058A>G (p.Gln353Arg)
c.964-2A>G (n.964-2A>G)
c.934-2A>G (n.934-2A>G)
c.859-2A>G (n.859-2A>G)
c.757-2A>G (n.757-2A>G)
c.386A>G (p.Gln129Arg)
5g.112819267A>TCA16024007APCc.1235A>T (p.Gln412Leu)
n.1291A>T
c.*1241A>T (n.*1241A>T)
c.1181A>T (p.Gln394Leu)
c.*557A>T (n.*557A>T)
c.1265A>T (p.Gln422Leu)
c.1160A>T (p.Gln387Leu)
c.1151A>T (p.Gln384Leu)
c.1058A>T (p.Gln353Leu)
c.964-2A>T (n.964-2A>T)
c.934-2A>T (n.934-2A>T)
c.859-2A>T (n.859-2A>T)
c.757-2A>T (n.757-2A>T)
c.386A>T (p.Gln129Leu)
 dbSNP
5g.112819268G>ACA445960368APCc.1236G>A (p.Gln412=)
n.1292G>A
c.*1242G>A (n.*1242G>A)
c.1182G>A (p.Gln394=)
c.*558G>A (n.*558G>A)
c.1266G>A (p.Gln422=)
c.1161G>A (p.Gln387=)
c.1152G>A (p.Gln384=)
c.1059G>A (p.Gln353=)
c.964-1G>A (n.964-1G>A)
c.934-1G>A (n.934-1G>A)
c.859-1G>A (n.859-1G>A)
c.757-1G>A (n.757-1G>A)
c.387G>A (p.Gln129=)
 ClinVar dbSNP
5g.112819268G>CCA16024008APCc.1236G>C (p.Gln412His)
n.1292G>C
c.*1242G>C (n.*1242G>C)
c.1182G>C (p.Gln394His)
c.*558G>C (n.*558G>C)
c.1266G>C (p.Gln422His)
c.1161G>C (p.Gln387His)
c.1152G>C (p.Gln384His)
c.1059G>C (p.Gln353His)
c.964-1G>C (n.964-1G>C)
c.934-1G>C (n.934-1G>C)
c.859-1G>C (n.859-1G>C)
c.757-1G>C (n.757-1G>C)
c.387G>C (p.Gln129His)
 dbSNP
5g.112819268G=CA1573492954APCc.1236G= (p.Gln412=)
n.1292G=
c.*1242G= (n.*1242G=)
c.1182G= (p.Gln394=)
c.*558G= (n.*558G=)
c.1266G= (p.Gln422=)
c.1161G= (p.Gln387=)
c.1152G= (p.Gln384=)
c.1059G= (p.Gln353=)
c.964-1G= (n.964-1G=)
c.934-1G= (n.934-1G=)
c.859-1G= (n.859-1G=)
c.757-1G= (n.757-1G=)
c.387G= (p.Gln129=)
5g.112819268G>TCA16024009APCc.1236G>T (p.Gln412His)
n.1292G>T
c.*1242G>T (n.*1242G>T)
c.1182G>T (p.Gln394His)
c.*558G>T (n.*558G>T)
c.1266G>T (p.Gln422His)
c.1161G>T (p.Gln387His)
c.1152G>T (p.Gln384His)
c.1059G>T (p.Gln353His)
c.964-1G>T (n.964-1G>T)
c.934-1G>T (n.934-1G>T)
c.859-1G>T (n.859-1G>T)
c.757-1G>T (n.757-1G>T)
c.387G>T (p.Gln129His)
 dbSNP COSMIC
5g.112819269A>CCA16024010APCc.1237A>C (p.Ile413Leu)
n.1293A>C
c.*1243A>C (n.*1243A>C)
c.1183A>C (p.Ile395Leu)
c.*559A>C (n.*559A>C)
c.1267A>C (p.Ile423Leu)
c.1162A>C (p.Ile388Leu)
c.1153A>C (p.Ile385Leu)
c.1060A>C (p.Ile354Leu)
c.964A>C (p.Ile322Leu)
c.934A>C (p.Ile312Leu)
c.859A>C (p.Ile287Leu)
c.757A>C (p.Ile253Leu)
c.388A>C (p.Ile130Leu)
 dbSNP
5g.112819269A>GCA16024011APCc.1237A>G (p.Ile413Val)
n.1293A>G
c.*1243A>G (n.*1243A>G)
c.1183A>G (p.Ile395Val)
c.*559A>G (n.*559A>G)
c.1267A>G (p.Ile423Val)
c.1162A>G (p.Ile388Val)
c.1153A>G (p.Ile385Val)
c.1060A>G (p.Ile354Val)
c.964A>G (p.Ile322Val)
c.934A>G (p.Ile312Val)
c.859A>G (p.Ile287Val)
c.757A>G (p.Ile253Val)
c.388A>G (p.Ile130Val)
5g.112819269A>TCA16024012APCc.1237A>T (p.Ile413Leu)
n.1293A>T
c.*1243A>T (n.*1243A>T)
c.1183A>T (p.Ile395Leu)
c.*559A>T (n.*559A>T)
c.1267A>T (p.Ile423Leu)
c.1162A>T (p.Ile388Leu)
c.1153A>T (p.Ile385Leu)
c.1060A>T (p.Ile354Leu)
c.964A>T (p.Ile322Leu)
c.934A>T (p.Ile312Leu)
c.859A>T (p.Ile287Leu)
c.757A>T (p.Ile253Leu)
c.388A>T (p.Ile130Leu)
 dbSNP
5g.112819270T>ACA16024013APCc.1238T>A (p.Ile413Lys)
n.1294T>A
c.*1244T>A (n.*1244T>A)
c.1184T>A (p.Ile395Lys)
c.*560T>A (n.*560T>A)
c.1268T>A (p.Ile423Lys)
c.1163T>A (p.Ile388Lys)
c.1154T>A (p.Ile385Lys)
c.1061T>A (p.Ile354Lys)
c.965T>A (p.Ile322Lys)
c.935T>A (p.Ile312Lys)
c.860T>A (p.Ile287Lys)
c.758T>A (p.Ile253Lys)
c.389T>A (p.Ile130Lys)
 dbSNP
5g.112819270T>CCA16024014APCc.1238T>C (p.Ile413Thr)
n.1294T>C
c.*1244T>C (n.*1244T>C)
c.1184T>C (p.Ile395Thr)
c.*560T>C (n.*560T>C)
c.1268T>C (p.Ile423Thr)
c.1163T>C (p.Ile388Thr)
c.1154T>C (p.Ile385Thr)
c.1061T>C (p.Ile354Thr)
c.965T>C (p.Ile322Thr)
c.935T>C (p.Ile312Thr)
c.860T>C (p.Ile287Thr)
c.758T>C (p.Ile253Thr)
c.389T>C (p.Ile130Thr)
5g.112819270T>GCA16024015APCc.1238T>G (p.Ile413Arg)
n.1294T>G
c.*1244T>G (n.*1244T>G)
c.1184T>G (p.Ile395Arg)
c.*560T>G (n.*560T>G)
c.1268T>G (p.Ile423Arg)
c.1163T>G (p.Ile388Arg)
c.1154T>G (p.Ile385Arg)
c.1061T>G (p.Ile354Arg)
c.965T>G (p.Ile322Arg)
c.935T>G (p.Ile312Arg)
c.860T>G (p.Ile287Arg)
c.758T>G (p.Ile253Arg)
c.389T>G (p.Ile130Arg)
5g.112819270T=CA1573492966APCc.1238T= (p.Ile413=)
n.1294T=
c.*1244T= (n.*1244T=)
c.1184T= (p.Ile395=)
c.*560T= (n.*560T=)
c.1268T= (p.Ile423=)
c.1163T= (p.Ile388=)
c.1154T= (p.Ile385=)
c.1061T= (p.Ile354=)
c.965T= (p.Ile322=)
c.935T= (p.Ile312=)
c.860T= (p.Ile287=)
c.758T= (p.Ile253=)
c.389T= (p.Ile130=)
5g.112819270dupCA658760545APCc.1238dup (p.Arg414ThrfsTer5)
n.1294dup
c.*1244dup (n.*1244dup)
c.1184dup (p.Arg396ThrfsTer5)
c.*560dup (n.*560dup)
c.1268dup (p.Arg424ThrfsTer5)
c.1163dup (p.Arg389ThrfsTer5)
c.1154dup (p.Arg386ThrfsTer5)
c.1061dup (p.Arg355ThrfsTer5)
c.965dup (p.Arg323ThrfsTer5)
c.935dup (p.Arg313ThrfsTer5)
c.860dup (p.Arg288ThrfsTer5)
c.758dup (p.Arg254ThrfsTer5)
c.389dup (p.Arg131ThrfsTer5)
5g.112819271_112819281delCA658760547APCc.1239_1249del (p.Ile413MetfsTer2)
n.1295_1305del
c.*1245_*1255del (n.*1245_*1255del)
c.1185_1195del (p.Ile395MetfsTer2)
c.*561_*571del (n.*561_*571del)
c.1269_1279del (p.Ile423MetfsTer2)
c.1164_1174del (p.Ile388MetfsTer2)
c.1155_1165del (p.Ile385MetfsTer2)
c.1062_1072del (p.Ile354MetfsTer2)
c.966_976del (p.Ile322MetfsTer2)
c.936_946del (p.Ile312MetfsTer2)
c.861_871del (p.Ile287MetfsTer2)
c.759_769del (p.Ile253MetfsTer2)
c.390_400del (p.Ile130MetfsTer2)
5g.112819271A=CA1573492980APCc.1239A= (p.Ile413=)
n.1295A=
c.*1245A= (n.*1245A=)
c.1185A= (p.Ile395=)
c.*561A= (n.*561A=)
c.1269A= (p.Ile423=)
c.1164A= (p.Ile388=)
c.1155A= (p.Ile385=)
c.1062A= (p.Ile354=)
c.966A= (p.Ile322=)
c.936A= (p.Ile312=)
c.861A= (p.Ile287=)
c.759A= (p.Ile253=)
c.390A= (p.Ile130=)
5g.112819271A>CCA445960369APCc.1239A>C (p.Ile413=)
n.1295A>C
c.*1245A>C (n.*1245A>C)
c.1185A>C (p.Ile395=)
c.*561A>C (n.*561A>C)
c.1269A>C (p.Ile423=)
c.1164A>C (p.Ile388=)
c.1155A>C (p.Ile385=)
c.1062A>C (p.Ile354=)
c.966A>C (p.Ile322=)
c.936A>C (p.Ile312=)
c.861A>C (p.Ile287=)
c.759A>C (p.Ile253=)
c.390A>C (p.Ile130=)
 dbSNP
5g.112819271A>GCA16024016APCc.1239A>G (p.Ile413Met)
n.1295A>G
c.*1245A>G (n.*1245A>G)
c.1185A>G (p.Ile395Met)
c.*561A>G (n.*561A>G)
c.1269A>G (p.Ile423Met)
c.1164A>G (p.Ile388Met)
c.1155A>G (p.Ile385Met)
c.1062A>G (p.Ile354Met)
c.966A>G (p.Ile322Met)
c.936A>G (p.Ile312Met)
c.861A>G (p.Ile287Met)
c.759A>G (p.Ile253Met)
c.390A>G (p.Ile130Met)
 ClinVar dbSNP
5g.112819271A>TCA445960370APCc.1239A>T (p.Ile413=)
n.1295A>T
c.*1245A>T (n.*1245A>T)
c.1185A>T (p.Ile395=)
c.*561A>T (n.*561A>T)
c.1269A>T (p.Ile423=)
c.1164A>T (p.Ile388=)
c.1155A>T (p.Ile385=)
c.1062A>T (p.Ile354=)
c.966A>T (p.Ile322=)
c.936A>T (p.Ile312=)
c.861A>T (p.Ile287=)
c.759A>T (p.Ile253=)
c.390A>T (p.Ile130=)
 dbSNP
5g.112819271dupCA10584239APCc.1239dup (p.Arg414ThrfsTer5)
n.1295dup
c.*1245dup (n.*1245dup)
c.1185dup (p.Arg396ThrfsTer5)
c.*561dup (n.*561dup)
c.1269dup (p.Arg424ThrfsTer5)
c.1164dup (p.Arg389ThrfsTer5)
c.1155dup (p.Arg386ThrfsTer5)
c.1062dup (p.Arg355ThrfsTer5)
c.966dup (p.Arg323ThrfsTer5)
c.936dup (p.Arg313ThrfsTer5)
c.861dup (p.Arg288ThrfsTer5)
c.759dup (p.Arg254ThrfsTer5)
c.390dup (p.Arg131ThrfsTer5)
 ClinVar dbSNP gnomAD v4
5g.112819271_112819272delCA2499217448APCc.1239_1240del (p.Ile413MetfsTer5)
n.1295_1296del
c.*1245_*1246del (n.*1245_*1246del)
c.1185_1186del (p.Ile395MetfsTer5)
c.*561_*562del (n.*561_*562del)
c.1269_1270del (p.Ile423MetfsTer5)
c.1164_1165del (p.Ile388MetfsTer5)
c.1155_1156del (p.Ile385MetfsTer5)
c.1062_1063del (p.Ile354MetfsTer5)
c.966_967del (p.Ile322MetfsTer5)
c.936_937del (p.Ile312MetfsTer5)
c.861_862del (p.Ile287MetfsTer5)
c.759_760del (p.Ile253MetfsTer5)
c.390_391del (p.Ile130MetfsTer5)
 ClinVar dbSNP
5g.112819271_112819272delinsACCA1573492977APCc.1239_1240delinsAC (p.Ile413=)
n.1295_1296delinsAC
c.*1245_*1246delinsAC (n.*1245_*1246delinsAC)
c.1185_1186delinsAC (p.Ile395=)
c.*561_*562delinsAC (n.*561_*562delinsAC)
c.1269_1270delinsAC (p.Ile423=)
c.1164_1165delinsAC (p.Ile388=)
c.1155_1156delinsAC (p.Ile385=)
c.1062_1063delinsAC (p.Ile354=)
c.966_967delinsAC (p.Ile322=)
c.936_937delinsAC (p.Ile312=)
c.861_862delinsAC (p.Ile287=)
c.759_760delinsAC (p.Ile253=)
c.390_391delinsAC (p.Ile130=)
5g.112819272delCA645509160APCc.1240del (p.Arg414AlafsTer?)
n.1296del
c.*1246del (n.*1246del)
c.1186del (p.Arg396AlafsTer?)
c.*562del (n.*562del)
c.1270del (p.Arg424AlafsTer?)
c.1165del (p.Arg389AlafsTer?)
c.1156del (p.Arg386AlafsTer?)
c.1063del (p.Arg355AlafsTer?)
c.967del (p.Arg323AlafsTer?)
c.937del (p.Arg313AlafsTer?)
c.862del (p.Arg288AlafsTer?)
c.760del (p.Arg254AlafsTer?)
c.391del (p.Arg131AlafsTer?)
 ClinVar dbSNP
5g.112819272C>ACA10578311APCc.1240C>A (p.Arg414Ser)
n.1296C>A
c.*1246C>A (n.*1246C>A)
c.1186C>A (p.Arg396Ser)
c.*562C>A (n.*562C>A)
c.1270C>A (p.Arg424Ser)
c.1165C>A (p.Arg389Ser)
c.1156C>A (p.Arg386Ser)
c.1063C>A (p.Arg355Ser)
c.967C>A (p.Arg323Ser)
c.937C>A (p.Arg313Ser)
c.862C>A (p.Arg288Ser)
c.760C>A (p.Arg254Ser)
c.391C>A (p.Arg131Ser)
 ClinVar dbSNP gnomAD v2
5g.112819272C=CA1573492990APCc.1240C= (p.Arg414=)
n.1296C=
c.*1246C= (n.*1246C=)
c.1186C= (p.Arg396=)
c.*562C= (n.*562C=)
c.1270C= (p.Arg424=)
c.1165C= (p.Arg389=)
c.1156C= (p.Arg386=)
c.1063C= (p.Arg355=)
c.967C= (p.Arg323=)
c.937C= (p.Arg313=)
c.862C= (p.Arg288=)
c.760C= (p.Arg254=)
c.391C= (p.Arg131=)
5g.112819272C>GCA16024017APCc.1240C>G (p.Arg414Gly)
n.1296C>G
c.*1246C>G (n.*1246C>G)
c.1186C>G (p.Arg396Gly)
c.*562C>G (n.*562C>G)
c.1270C>G (p.Arg424Gly)
c.1165C>G (p.Arg389Gly)
c.1156C>G (p.Arg386Gly)
c.1063C>G (p.Arg355Gly)
c.967C>G (p.Arg323Gly)
c.937C>G (p.Arg313Gly)
c.862C>G (p.Arg288Gly)
c.760C>G (p.Arg254Gly)
c.391C>G (p.Arg131Gly)
 ClinVar dbSNP
5g.112819272C>TCA004103APCc.1240C>T (p.Arg414Cys)
n.1296C>T
c.*1246C>T (n.*1246C>T)
c.1186C>T (p.Arg396Cys)
c.*562C>T (n.*562C>T)
c.1270C>T (p.Arg424Cys)
c.1165C>T (p.Arg389Cys)
c.1156C>T (p.Arg386Cys)
c.1063C>T (p.Arg355Cys)
c.967C>T (p.Arg323Cys)
c.937C>T (p.Arg313Cys)
c.862C>T (p.Arg288Cys)
c.760C>T (p.Arg254Cys)
c.391C>T (p.Arg131Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819272_112819278delinsCGCGCTTCA1573492997APCc.1240_1246delinsCGCGCTT (p.Arg414=)
n.1296_1302delinsCGCGCTT
c.*1246_*1252delinsCGCGCTT (n.*1246_*1252delinsCGCGCTT)
c.1186_1192delinsCGCGCTT (p.Arg396=)
c.*562_*568delinsCGCGCTT (n.*562_*568delinsCGCGCTT)
c.1270_1276delinsCGCGCTT (p.Arg424=)
c.1165_1171delinsCGCGCTT (p.Arg389=)
c.1156_1162delinsCGCGCTT (p.Arg386=)
c.1063_1069delinsCGCGCTT (p.Arg355=)
c.967_973delinsCGCGCTT (p.Arg323=)
c.937_943delinsCGCGCTT (p.Arg313=)
c.862_868delinsCGCGCTT (p.Arg288=)
c.760_766delinsCGCGCTT (p.Arg254=)
c.391_397delinsCGCGCTT (p.Arg131=)
5g.112819273G>ACA004108APCc.1241G>A (p.Arg414His)
n.1297G>A
c.*1247G>A (n.*1247G>A)
c.1187G>A (p.Arg396His)
c.*563G>A (n.*563G>A)
c.1271G>A (p.Arg424His)
c.1166G>A (p.Arg389His)
c.1157G>A (p.Arg386His)
c.1064G>A (p.Arg355His)
c.968G>A (p.Arg323His)
c.938G>A (p.Arg313His)
c.863G>A (p.Arg288His)
c.761G>A (p.Arg254His)
c.392G>A (p.Arg131His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112819273G>CCA16024018APCc.1241G>C (p.Arg414Pro)
n.1297G>C
c.*1247G>C (n.*1247G>C)
c.1187G>C (p.Arg396Pro)
c.*563G>C (n.*563G>C)
c.1271G>C (p.Arg424Pro)
c.1166G>C (p.Arg389Pro)
c.1157G>C (p.Arg386Pro)
c.1064G>C (p.Arg355Pro)
c.968G>C (p.Arg323Pro)
c.938G>C (p.Arg313Pro)
c.863G>C (p.Arg288Pro)
c.761G>C (p.Arg254Pro)
c.392G>C (p.Arg131Pro)
 dbSNP
5g.112819273G=CA1573493006APCc.1241G= (p.Arg414=)
n.1297G=
c.*1247G= (n.*1247G=)
c.1187G= (p.Arg396=)
c.*563G= (n.*563G=)
c.1271G= (p.Arg424=)
c.1166G= (p.Arg389=)
c.1157G= (p.Arg386=)
c.1064G= (p.Arg355=)
c.968G= (p.Arg323=)
c.938G= (p.Arg313=)
c.863G= (p.Arg288=)
c.761G= (p.Arg254=)
c.392G= (p.Arg131=)
5g.112819273G>TCA16024019APCc.1241G>T (p.Arg414Leu)
n.1297G>T
c.*1247G>T (n.*1247G>T)
c.1187G>T (p.Arg396Leu)
c.*563G>T (n.*563G>T)
c.1271G>T (p.Arg424Leu)
c.1166G>T (p.Arg389Leu)
c.1157G>T (p.Arg386Leu)
c.1064G>T (p.Arg355Leu)
c.968G>T (p.Arg323Leu)
c.938G>T (p.Arg313Leu)
c.863G>T (p.Arg288Leu)
c.761G>T (p.Arg254Leu)
c.392G>T (p.Arg131Leu)
 COSMIC
5g.112819273_112819278delinsACA915942596APCc.1241_1246delinsA (p.Arg414GlnfsTer3)
n.1297_1302delinsA
c.*1247_*1252delinsA (n.*1247_*1252delinsA)
c.1187_1192delinsA (p.Arg396GlnfsTer3)
c.*563_*568delinsA (n.*563_*568delinsA)
c.1271_1276delinsA (p.Arg424GlnfsTer3)
c.1166_1171delinsA (p.Arg389GlnfsTer3)
c.1157_1162delinsA (p.Arg386GlnfsTer3)
c.1064_1069delinsA (p.Arg355GlnfsTer3)
c.968_973delinsA (p.Arg323GlnfsTer3)
c.938_943delinsA (p.Arg313GlnfsTer3)
c.863_868delinsA (p.Arg288GlnfsTer3)
c.761_766delinsA (p.Arg254GlnfsTer3)
c.392_397delinsA (p.Arg131GlnfsTer3)
 ClinVar dbSNP
5g.112819274delCA658760551APCc.1242del (p.Ala415LeufsTer?)
n.1298del
c.*1248del (n.*1248del)
c.1188del (p.Ala397LeufsTer?)
c.*564del (n.*564del)
c.1272del (p.Ala425LeufsTer?)
c.1167del (p.Ala390LeufsTer?)
c.1158del (p.Ala387LeufsTer?)
c.1065del (p.Ala356LeufsTer?)
c.969del (p.Ala324LeufsTer?)
c.939del (p.Ala314LeufsTer?)
c.864del (p.Ala289LeufsTer?)
c.762del (p.Ala255LeufsTer?)
c.393del (p.Ala132LeufsTer?)
5g.112819274C>ACA445960371APCc.1242C>A (p.Arg414=)
n.1298C>A
c.*1248C>A (n.*1248C>A)
c.1188C>A (p.Arg396=)
c.*564C>A (n.*564C>A)
c.1272C>A (p.Arg424=)
c.1167C>A (p.Arg389=)
c.1158C>A (p.Arg386=)
c.1065C>A (p.Arg355=)
c.969C>A (p.Arg323=)
c.939C>A (p.Arg313=)
c.864C>A (p.Arg288=)
c.762C>A (p.Arg254=)
c.393C>A (p.Arg131=)
 ClinVar dbSNP
5g.112819274C=CA1573493019APCc.1242C= (p.Arg414=)
n.1298C=
c.*1248C= (n.*1248C=)
c.1188C= (p.Arg396=)
c.*564C= (n.*564C=)
c.1272C= (p.Arg424=)
c.1167C= (p.Arg389=)
c.1158C= (p.Arg386=)
c.1065C= (p.Arg355=)
c.969C= (p.Arg323=)
c.939C= (p.Arg313=)
c.864C= (p.Arg288=)
c.762C= (p.Arg254=)
c.393C= (p.Arg131=)
5g.112819274C>GCA445960372APCc.1242C>G (p.Arg414=)
n.1298C>G
c.*1248C>G (n.*1248C>G)
c.1188C>G (p.Arg396=)
c.*564C>G (n.*564C>G)
c.1272C>G (p.Arg424=)
c.1167C>G (p.Arg389=)
c.1158C>G (p.Arg386=)
c.1065C>G (p.Arg355=)
c.969C>G (p.Arg323=)
c.939C>G (p.Arg313=)
c.864C>G (p.Arg288=)
c.762C>G (p.Arg254=)
c.393C>G (p.Arg131=)
 ClinVar dbSNP gnomAD v4
5g.112819274C>TCA026898APCc.1242C>T (p.Arg414=)
n.1298C>T
c.*1248C>T (n.*1248C>T)
c.1188C>T (p.Arg396=)
c.*564C>T (n.*564C>T)
c.1272C>T (p.Arg424=)
c.1167C>T (p.Arg389=)
c.1158C>T (p.Arg386=)
c.1065C>T (p.Arg355=)
c.969C>T (p.Arg323=)
c.939C>T (p.Arg313=)
c.864C>T (p.Arg288=)
c.762C>T (p.Arg254=)
c.393C>T (p.Arg131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112819275G>ACA026910APCc.1243G>A (p.Ala415Thr)
n.1299G>A
c.*1249G>A (n.*1249G>A)
c.1189G>A (p.Ala397Thr)
c.*565G>A (n.*565G>A)
c.1273G>A (p.Ala425Thr)
c.1168G>A (p.Ala390Thr)
c.1159G>A (p.Ala387Thr)
c.1066G>A (p.Ala356Thr)
c.970G>A (p.Ala324Thr)
c.940G>A (p.Ala314Thr)
c.865G>A (p.Ala289Thr)
c.763G>A (p.Ala255Thr)
c.394G>A (p.Ala132Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112819275G>CCA16024020APCc.1243G>C (p.Ala415Pro)
n.1299G>C
c.*1249G>C (n.*1249G>C)
c.1189G>C (p.Ala397Pro)
c.*565G>C (n.*565G>C)
c.1273G>C (p.Ala425Pro)
c.1168G>C (p.Ala390Pro)
c.1159G>C (p.Ala387Pro)
c.1066G>C (p.Ala356Pro)
c.970G>C (p.Ala324Pro)
c.940G>C (p.Ala314Pro)
c.865G>C (p.Ala289Pro)
c.763G>C (p.Ala255Pro)
c.394G>C (p.Ala132Pro)
 dbSNP
5g.112819275G=CA1573493029APCc.1243G= (p.Ala415=)
n.1299G=
c.*1249G= (n.*1249G=)
c.1189G= (p.Ala397=)
c.*565G= (n.*565G=)
c.1273G= (p.Ala425=)
c.1168G= (p.Ala390=)
c.1159G= (p.Ala387=)
c.1066G= (p.Ala356=)
c.970G= (p.Ala324=)
c.940G= (p.Ala314=)
c.865G= (p.Ala289=)
c.763G= (p.Ala255=)
c.394G= (p.Ala132=)
5g.112819275G>TCA16024021APCc.1243G>T (p.Ala415Ser)
n.1299G>T
c.*1249G>T (n.*1249G>T)
c.1189G>T (p.Ala397Ser)
c.*565G>T (n.*565G>T)
c.1273G>T (p.Ala425Ser)
c.1168G>T (p.Ala390Ser)
c.1159G>T (p.Ala387Ser)
c.1066G>T (p.Ala356Ser)
c.970G>T (p.Ala324Ser)
c.940G>T (p.Ala314Ser)
c.865G>T (p.Ala289Ser)
c.763G>T (p.Ala255Ser)
c.394G>T (p.Ala132Ser)
 dbSNP
5g.112819275_112819279delinsGCTTACA1573493034APCc.1243_1247delinsGCTTA (p.Ala415=)
n.1299_1303delinsGCTTA
c.*1249_*1253delinsGCTTA (n.*1249_*1253delinsGCTTA)
c.1189_1193delinsGCTTA (p.Ala397=)
c.*565_*569delinsGCTTA (n.*565_*569delinsGCTTA)
c.1273_1277delinsGCTTA (p.Ala425=)
c.1168_1172delinsGCTTA (p.Ala390=)
c.1159_1163delinsGCTTA (p.Ala387=)
c.1066_1070delinsGCTTA (p.Ala356=)
c.970_974delinsGCTTA (p.Ala324=)
c.940_944delinsGCTTA (p.Ala314=)
c.865_869delinsGCTTA (p.Ala289=)
c.763_767delinsGCTTA (p.Ala255=)
c.394_398delinsGCTTA (p.Ala132=)
5g.112819276delCA2695202716APCc.1244del (p.Ala415ValfsTer?)
n.1300del
c.*1250del (n.*1250del)
c.1190del (p.Ala397ValfsTer?)
c.*566del (n.*566del)
c.1274del (p.Ala425ValfsTer?)
c.1169del (p.Ala390ValfsTer?)
c.1160del (p.Ala387ValfsTer?)
c.1067del (p.Ala356ValfsTer?)
c.971del (p.Ala324ValfsTer?)
c.941del (p.Ala314ValfsTer?)
c.866del (p.Ala289ValfsTer?)
c.764del (p.Ala255ValfsTer?)
c.395del (p.Ala132ValfsTer?)
5g.112819276C>ACA16024022APCc.1244C>A (p.Ala415Asp)
n.1300C>A
c.*1250C>A (n.*1250C>A)
c.1190C>A (p.Ala397Asp)
c.*566C>A (n.*566C>A)
c.1274C>A (p.Ala425Asp)
c.1169C>A (p.Ala390Asp)
c.1160C>A (p.Ala387Asp)
c.1067C>A (p.Ala356Asp)
c.971C>A (p.Ala324Asp)
c.941C>A (p.Ala314Asp)
c.866C>A (p.Ala289Asp)
c.764C>A (p.Ala255Asp)
c.395C>A (p.Ala132Asp)
 dbSNP
5g.112819276C=CA1573493040APCc.1244C= (p.Ala415=)
n.1300C=
c.*1250C= (n.*1250C=)
c.1190C= (p.Ala397=)
c.*566C= (n.*566C=)
c.1274C= (p.Ala425=)
c.1169C= (p.Ala390=)
c.1160C= (p.Ala387=)
c.1067C= (p.Ala356=)
c.971C= (p.Ala324=)
c.941C= (p.Ala314=)
c.866C= (p.Ala289=)
c.764C= (p.Ala255=)
c.395C= (p.Ala132=)
5g.112819276C>GCA16024023APCc.1244C>G (p.Ala415Gly)
n.1300C>G
c.*1250C>G (n.*1250C>G)
c.1190C>G (p.Ala397Gly)
c.*566C>G (n.*566C>G)
c.1274C>G (p.Ala425Gly)
c.1169C>G (p.Ala390Gly)
c.1160C>G (p.Ala387Gly)
c.1067C>G (p.Ala356Gly)
c.971C>G (p.Ala324Gly)
c.941C>G (p.Ala314Gly)
c.866C>G (p.Ala289Gly)
c.764C>G (p.Ala255Gly)
c.395C>G (p.Ala132Gly)
 dbSNP
5g.112819276C>TCA16024024APCc.1244C>T (p.Ala415Val)
n.1300C>T
c.*1250C>T (n.*1250C>T)
c.1190C>T (p.Ala397Val)
c.*566C>T (n.*566C>T)
c.1274C>T (p.Ala425Val)
c.1169C>T (p.Ala390Val)
c.1160C>T (p.Ala387Val)
c.1067C>T (p.Ala356Val)
c.971C>T (p.Ala324Val)
c.941C>T (p.Ala314Val)
c.866C>T (p.Ala289Val)
c.764C>T (p.Ala255Val)
c.395C>T (p.Ala132Val)
5g.112819278_112819281delCA658655915APCc.1246_1249del (p.Tyr416ValfsTer?)
n.1302_1305del
c.*1252_*1255del (n.*1252_*1255del)
c.1192_1195del (p.Tyr398ValfsTer?)
c.*568_*571del (n.*568_*571del)
c.1276_1279del (p.Tyr426ValfsTer?)
c.1171_1174del (p.Tyr391ValfsTer?)
c.1162_1165del (p.Tyr388ValfsTer?)
c.1069_1072del (p.Tyr357ValfsTer?)
c.973_976del (p.Tyr325ValfsTer?)
c.943_946del (p.Tyr315ValfsTer?)
c.868_871del (p.Tyr290ValfsTer?)
c.766_769del (p.Tyr256ValfsTer?)
c.397_400del (p.Tyr133ValfsTer?)
 ClinVar dbSNP

Number of alleles fetched