Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.55254317_55254955delinsTTGCACAACCTTGTAAATACACTAAAACACTTGAATTGTACACCTGAAATGGGCTCATCGTATGTTAAGTGAATTATATCTCAATAAAGCTGATTTTTTAAAAAACAGCAACAATAGTATCTATATCTGAAATTCTAACTCTATATGATAACTATAGAGTCTATAAATTTCATCACTTACCATGAGTGAATGTCTGTTGGCTGAAAGAAGGCCGGTTCCATACCCTGAGCCCAGACCACCCATGGCTCCATTATGAGAAGGTCCAATGATTCCATGCATGTCCCCATGACCACCAGGCATAGCTGTGGATGGGCCCACTGCATGGTTCCGGAGAACATGAATAGCATCATCCAGTCTTTCTAAACGATCTTCAATTCGGCTTTGCTGTTGGTTAACAAATGATGTAAAATTTGATTTAGTTCAAAAGGGGTGCCTAAATTATACAAGTAAAATTTTAGTCGACAAAAAACACACTGTGTTTCTAAATACATGTTTCCAATAAAATGTATTTCCTTAAAACAATAATACAAATAGTGTTGTTTCCAGAAAACTGGTAGAACGTGTTAATGTTAAAATTATAGTGTTATTTTTCATGAACAAACTAAATTCAATAATTATTCCAGGACATTATAACATACACA2305016120TCF4c.1147-255_1350+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.664-255_867+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
n.827-255_1030+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1075-255_1278+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.*855-255_*1058+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.757-255_960+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.*1037-255_*1240+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.499-255_702+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
n.1214-255_1417+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
n.841-255_1044+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.745-255_948+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1174-255_1377+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.*758-255_*961+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1453-255_1656+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.667-255_870+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1021-255_1224+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.934-255_1137+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
n.1238-255_1441+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1165-255_1368+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.895-255_1098+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.967-255_1170+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1138-255_1341+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1072-255_1275+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
n.182-255_385+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1144-255_1347+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.937-255_1140+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1450-255_1653+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1141-255_1344+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1069-255_1272+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1018-255_1221+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.931-255_1134+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.754-255_957+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.910-255_1113+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
c.1078-255_1281+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA
18g.55254320_55254957delCA915951556TCF4c.1147-255_1350+179del
c.664-255_867+179del
n.827-255_1030+179del
c.1075-255_1278+179del
c.*855-255_*1058+179del
c.757-255_960+179del
c.*1037-255_*1240+179del
c.499-255_702+179del
n.1214-255_1417+179del
n.841-255_1044+179del
c.745-255_948+179del
c.1174-255_1377+179del
c.*758-255_*961+179del
c.1453-255_1656+179del
c.667-255_870+179del
c.1021-255_1224+179del
c.934-255_1137+179del
n.1238-255_1441+179del
c.1165-255_1368+179del
c.895-255_1098+179del
c.967-255_1170+179del
c.1138-255_1341+179del
c.1072-255_1275+179del
n.182-255_385+179del
c.1144-255_1347+179del
c.937-255_1140+179del
c.1450-255_1653+179del
c.1141-255_1344+179del
c.1069-255_1272+179del
c.1018-255_1221+179del
c.931-255_1134+179del
c.754-255_957+179del
c.910-255_1113+179del
c.1078-255_1281+179del
 ClinVar dbSNP
18g.55254594A>CCA402533529TCF4c.1253T>G (p.Met418Arg)
c.770T>G (p.Met257Arg)
n.933T>G
c.1181T>G (p.Met394Arg)
c.*961T>G (n.*961T>G)
c.863T>G (p.Met288Arg)
c.*1143T>G (n.*1143T>G)
c.605T>G (p.Met202Arg)
n.1320T>G
n.947T>G
c.851T>G
c.1280T>G (p.Met427Arg)
c.*864T>G (n.*864T>G)
c.1559T>G (p.Met520Arg)
c.773T>G (p.Met258Arg)
c.1127T>G (p.Met376Arg)
c.1040T>G (p.Met347Arg)
n.1344T>G
n.766T>G
c.1271T>G (p.Met424Arg)
c.1001T>G (p.Met334Arg)
c.1073T>G (p.Met358Arg)
c.1244T>G (p.Met415Arg)
c.1178T>G (p.Met393Arg)
n.288T>G
c.1250T>G (p.Met417Arg)
c.1043T>G (p.Met348Arg)
c.1556T>G (p.Met519Arg)
c.1247T>G (p.Met416Arg)
c.1175T>G (p.Met392Arg)
c.1124T>G (p.Met375Arg)
c.1037T>G (p.Met346Arg)
c.860T>G (p.Met287Arg)
c.1016T>G (p.Met339Arg)
c.1184T>G (p.Met395Arg)
18g.55254594A>GCA402533531TCF4c.1253T>C (p.Met418Thr)
c.770T>C (p.Met257Thr)
n.933T>C
c.1181T>C (p.Met394Thr)
c.*961T>C (n.*961T>C)
c.863T>C (p.Met288Thr)
c.*1143T>C (n.*1143T>C)
c.605T>C (p.Met202Thr)
n.1320T>C
n.947T>C
c.851T>C
c.1280T>C (p.Met427Thr)
c.*864T>C (n.*864T>C)
c.1559T>C (p.Met520Thr)
c.773T>C (p.Met258Thr)
c.1127T>C (p.Met376Thr)
c.1040T>C (p.Met347Thr)
n.1344T>C
n.766T>C
c.1271T>C (p.Met424Thr)
c.1001T>C (p.Met334Thr)
c.1073T>C (p.Met358Thr)
c.1244T>C (p.Met415Thr)
c.1178T>C (p.Met393Thr)
n.288T>C
c.1250T>C (p.Met417Thr)
c.1043T>C (p.Met348Thr)
c.1556T>C (p.Met519Thr)
c.1247T>C (p.Met416Thr)
c.1175T>C (p.Met392Thr)
c.1124T>C (p.Met375Thr)
c.1037T>C (p.Met346Thr)
c.860T>C (p.Met287Thr)
c.1016T>C (p.Met339Thr)
c.1184T>C (p.Met395Thr)
18g.55254594A>TCA402533532TCF4c.1253T>A (p.Met418Lys)
c.770T>A (p.Met257Lys)
n.933T>A
c.1181T>A (p.Met394Lys)
c.*961T>A (n.*961T>A)
c.863T>A (p.Met288Lys)
c.*1143T>A (n.*1143T>A)
c.605T>A (p.Met202Lys)
n.1320T>A
n.947T>A
c.851T>A
c.1280T>A (p.Met427Lys)
c.*864T>A (n.*864T>A)
c.1559T>A (p.Met520Lys)
c.773T>A (p.Met258Lys)
c.1127T>A (p.Met376Lys)
c.1040T>A (p.Met347Lys)
n.1344T>A
n.766T>A
c.1271T>A (p.Met424Lys)
c.1001T>A (p.Met334Lys)
c.1073T>A (p.Met358Lys)
c.1244T>A (p.Met415Lys)
c.1178T>A (p.Met393Lys)
n.288T>A
c.1250T>A (p.Met417Lys)
c.1043T>A (p.Met348Lys)
c.1556T>A (p.Met519Lys)
c.1247T>A (p.Met416Lys)
c.1175T>A (p.Met392Lys)
c.1124T>A (p.Met375Lys)
c.1037T>A (p.Met346Lys)
c.860T>A (p.Met287Lys)
c.1016T>A (p.Met339Lys)
c.1184T>A (p.Met395Lys)
18g.55254595T>ACA402533534TCF4c.1252A>T (p.Met418Leu)
c.769A>T (p.Met257Leu)
n.932A>T
c.1180A>T (p.Met394Leu)
c.*960A>T (n.*960A>T)
c.862A>T (p.Met288Leu)
c.*1142A>T (n.*1142A>T)
c.604A>T (p.Met202Leu)
n.1319A>T
n.946A>T
c.850A>T
c.1279A>T (p.Met427Leu)
c.*863A>T (n.*863A>T)
c.1558A>T (p.Met520Leu)
c.772A>T (p.Met258Leu)
c.1126A>T (p.Met376Leu)
c.1039A>T (p.Met347Leu)
n.1343A>T
n.765A>T
c.1270A>T (p.Met424Leu)
c.1000A>T (p.Met334Leu)
c.1072A>T (p.Met358Leu)
c.1243A>T (p.Met415Leu)
c.1177A>T (p.Met393Leu)
n.287A>T
c.1249A>T (p.Met417Leu)
c.1042A>T (p.Met348Leu)
c.1555A>T (p.Met519Leu)
c.1246A>T (p.Met416Leu)
c.1174A>T (p.Met392Leu)
c.1123A>T (p.Met375Leu)
c.1036A>T (p.Met346Leu)
c.859A>T (p.Met287Leu)
c.1015A>T (p.Met339Leu)
c.1183A>T (p.Met395Leu)
18g.55254595T>CCA402533536TCF4c.1252A>G (p.Met418Val)
c.769A>G (p.Met257Val)
n.932A>G
c.1180A>G (p.Met394Val)
c.*960A>G (n.*960A>G)
c.862A>G (p.Met288Val)
c.*1142A>G (n.*1142A>G)
c.604A>G (p.Met202Val)
n.1319A>G
n.946A>G
c.850A>G
c.1279A>G (p.Met427Val)
c.*863A>G (n.*863A>G)
c.1558A>G (p.Met520Val)
c.772A>G (p.Met258Val)
c.1126A>G (p.Met376Val)
c.1039A>G (p.Met347Val)
n.1343A>G
n.765A>G
c.1270A>G (p.Met424Val)
c.1000A>G (p.Met334Val)
c.1072A>G (p.Met358Val)
c.1243A>G (p.Met415Val)
c.1177A>G (p.Met393Val)
n.287A>G
c.1249A>G (p.Met417Val)
c.1042A>G (p.Met348Val)
c.1555A>G (p.Met519Val)
c.1246A>G (p.Met416Val)
c.1174A>G (p.Met392Val)
c.1123A>G (p.Met375Val)
c.1036A>G (p.Met346Val)
c.859A>G (p.Met287Val)
c.1015A>G (p.Met339Val)
c.1183A>G (p.Met395Val)
18g.55254595T>GCA402533537TCF4c.1252A>C (p.Met418Leu)
c.769A>C (p.Met257Leu)
n.932A>C
c.1180A>C (p.Met394Leu)
c.*960A>C (n.*960A>C)
c.862A>C (p.Met288Leu)
c.*1142A>C (n.*1142A>C)
c.604A>C (p.Met202Leu)
n.1319A>C
n.946A>C
c.850A>C
c.1279A>C (p.Met427Leu)
c.*863A>C (n.*863A>C)
c.1558A>C (p.Met520Leu)
c.772A>C (p.Met258Leu)
c.1126A>C (p.Met376Leu)
c.1039A>C (p.Met347Leu)
n.1343A>C
n.765A>C
c.1270A>C (p.Met424Leu)
c.1000A>C (p.Met334Leu)
c.1072A>C (p.Met358Leu)
c.1243A>C (p.Met415Leu)
c.1177A>C (p.Met393Leu)
n.287A>C
c.1249A>C (p.Met417Leu)
c.1042A>C (p.Met348Leu)
c.1555A>C (p.Met519Leu)
c.1246A>C (p.Met416Leu)
c.1174A>C (p.Met392Leu)
c.1123A>C (p.Met375Leu)
c.1036A>C (p.Met346Leu)
c.859A>C (p.Met287Leu)
c.1015A>C (p.Met339Leu)
c.1183A>C (p.Met395Leu)
18g.55254596G>ACA8970241TCF4c.1251C>T (p.Asp417=)
c.768C>T (p.Asp256=)
n.931C>T
c.1179C>T (p.Asp393=)
c.*959C>T (n.*959C>T)
c.861C>T (p.Asp287=)
c.*1141C>T (n.*1141C>T)
c.603C>T (p.Asp201=)
n.1318C>T
n.945C>T
c.849C>T
c.1278C>T (p.Asp426=)
c.*862C>T (n.*862C>T)
c.1557C>T (p.Asp519=)
c.771C>T (p.Asp257=)
c.1125C>T (p.Asp375=)
c.1038C>T (p.Asp346=)
n.1342C>T
n.764C>T
c.1269C>T (p.Asp423=)
c.999C>T (p.Asp333=)
c.1071C>T (p.Asp357=)
c.1242C>T (p.Asp414=)
c.1176C>T (p.Asp392=)
n.286C>T
c.1248C>T (p.Asp416=)
c.1041C>T (p.Asp347=)
c.1554C>T (p.Asp518=)
c.1245C>T (p.Asp415=)
c.1173C>T (p.Asp391=)
c.1122C>T (p.Asp374=)
c.1035C>T (p.Asp345=)
c.858C>T (p.Asp286=)
c.1014C>T (p.Asp338=)
c.1182C>T (p.Asp394=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.55254596G>CCA402533542TCF4c.1251C>G (p.Asp417Glu)
c.768C>G (p.Asp256Glu)
n.931C>G
c.1179C>G (p.Asp393Glu)
c.*959C>G (n.*959C>G)
c.861C>G (p.Asp287Glu)
c.*1141C>G (n.*1141C>G)
c.603C>G (p.Asp201Glu)
n.1318C>G
n.945C>G
c.849C>G
c.1278C>G (p.Asp426Glu)
c.*862C>G (n.*862C>G)
c.1557C>G (p.Asp519Glu)
c.771C>G (p.Asp257Glu)
c.1125C>G (p.Asp375Glu)
c.1038C>G (p.Asp346Glu)
n.1342C>G
n.764C>G
c.1269C>G (p.Asp423Glu)
c.999C>G (p.Asp333Glu)
c.1071C>G (p.Asp357Glu)
c.1242C>G (p.Asp414Glu)
c.1176C>G (p.Asp392Glu)
n.286C>G
c.1248C>G (p.Asp416Glu)
c.1041C>G (p.Asp347Glu)
c.1554C>G (p.Asp518Glu)
c.1245C>G (p.Asp415Glu)
c.1173C>G (p.Asp391Glu)
c.1122C>G (p.Asp374Glu)
c.1035C>G (p.Asp345Glu)
c.858C>G (p.Asp286Glu)
c.1014C>G (p.Asp338Glu)
c.1182C>G (p.Asp394Glu)
18g.55254596G=CA2305016260TCF4c.1251C= (p.Asp417=)
c.768C= (p.Asp256=)
n.931C=
c.1179C= (p.Asp393=)
c.*959C= (n.*959C=)
c.861C= (p.Asp287=)
c.*1141C= (n.*1141C=)
c.603C= (p.Asp201=)
n.1318C=
n.945C=
c.849C=
c.1278C= (p.Asp426=)
c.*862C= (n.*862C=)
c.1557C= (p.Asp519=)
c.771C= (p.Asp257=)
c.1125C= (p.Asp375=)
c.1038C= (p.Asp346=)
n.1342C=
n.764C=
c.1269C= (p.Asp423=)
c.999C= (p.Asp333=)
c.1071C= (p.Asp357=)
c.1242C= (p.Asp414=)
c.1176C= (p.Asp392=)
n.286C=
c.1248C= (p.Asp416=)
c.1041C= (p.Asp347=)
c.1554C= (p.Asp518=)
c.1245C= (p.Asp415=)
c.1173C= (p.Asp391=)
c.1122C= (p.Asp374=)
c.1035C= (p.Asp345=)
c.858C= (p.Asp286=)
c.1014C= (p.Asp338=)
c.1182C= (p.Asp394=)
18g.55254596G>TCA402533540TCF4c.1251C>A (p.Asp417Glu)
c.768C>A (p.Asp256Glu)
n.931C>A
c.1179C>A (p.Asp393Glu)
c.*959C>A (n.*959C>A)
c.861C>A (p.Asp287Glu)
c.*1141C>A (n.*1141C>A)
c.603C>A (p.Asp201Glu)
n.1318C>A
n.945C>A
c.849C>A
c.1278C>A (p.Asp426Glu)
c.*862C>A (n.*862C>A)
c.1557C>A (p.Asp519Glu)
c.771C>A (p.Asp257Glu)
c.1125C>A (p.Asp375Glu)
c.1038C>A (p.Asp346Glu)
n.1342C>A
n.764C>A
c.1269C>A (p.Asp423Glu)
c.999C>A (p.Asp333Glu)
c.1071C>A (p.Asp357Glu)
c.1242C>A (p.Asp414Glu)
c.1176C>A (p.Asp392Glu)
n.286C>A
c.1248C>A (p.Asp416Glu)
c.1041C>A (p.Asp347Glu)
c.1554C>A (p.Asp518Glu)
c.1245C>A (p.Asp415Glu)
c.1173C>A (p.Asp391Glu)
c.1122C>A (p.Asp374Glu)
c.1035C>A (p.Asp345Glu)
c.858C>A (p.Asp286Glu)
c.1014C>A (p.Asp338Glu)
c.1182C>A (p.Asp394Glu)
18g.55254597T>ACA402533545TCF4c.1250A>T (p.Asp417Val)
c.767A>T (p.Asp256Val)
n.930A>T
c.1178A>T (p.Asp393Val)
c.*958A>T (n.*958A>T)
c.860A>T (p.Asp287Val)
c.*1140A>T (n.*1140A>T)
c.602A>T (p.Asp201Val)
n.1317A>T
n.944A>T
c.848A>T
c.1277A>T (p.Asp426Val)
c.*861A>T (n.*861A>T)
c.1556A>T (p.Asp519Val)
c.770A>T (p.Asp257Val)
c.1124A>T (p.Asp375Val)
c.1037A>T (p.Asp346Val)
n.1341A>T
n.763A>T
c.1268A>T (p.Asp423Val)
c.998A>T (p.Asp333Val)
c.1070A>T (p.Asp357Val)
c.1241A>T (p.Asp414Val)
c.1175A>T (p.Asp392Val)
n.285A>T
c.1247A>T (p.Asp416Val)
c.1040A>T (p.Asp347Val)
c.1553A>T (p.Asp518Val)
c.1244A>T (p.Asp415Val)
c.1172A>T (p.Asp391Val)
c.1121A>T (p.Asp374Val)
c.1034A>T (p.Asp345Val)
c.857A>T (p.Asp286Val)
c.1013A>T (p.Asp338Val)
c.1181A>T (p.Asp394Val)
18g.55254597T>CCA402533547TCF4c.1250A>G (p.Asp417Gly)
c.767A>G (p.Asp256Gly)
n.930A>G
c.1178A>G (p.Asp393Gly)
c.*958A>G (n.*958A>G)
c.860A>G (p.Asp287Gly)
c.*1140A>G (n.*1140A>G)
c.602A>G (p.Asp201Gly)
n.1317A>G
n.944A>G
c.848A>G
c.1277A>G (p.Asp426Gly)
c.*861A>G (n.*861A>G)
c.1556A>G (p.Asp519Gly)
c.770A>G (p.Asp257Gly)
c.1124A>G (p.Asp375Gly)
c.1037A>G (p.Asp346Gly)
n.1341A>G
n.763A>G
c.1268A>G (p.Asp423Gly)
c.998A>G (p.Asp333Gly)
c.1070A>G (p.Asp357Gly)
c.1241A>G (p.Asp414Gly)
c.1175A>G (p.Asp392Gly)
n.285A>G
c.1247A>G (p.Asp416Gly)
c.1040A>G (p.Asp347Gly)
c.1553A>G (p.Asp518Gly)
c.1244A>G (p.Asp415Gly)
c.1172A>G (p.Asp391Gly)
c.1121A>G (p.Asp374Gly)
c.1034A>G (p.Asp345Gly)
c.857A>G (p.Asp286Gly)
c.1013A>G (p.Asp338Gly)
c.1181A>G (p.Asp394Gly)
 gnomAD v4
18g.55254597T>GCA402533549TCF4c.1250A>C (p.Asp417Ala)
c.767A>C (p.Asp256Ala)
n.930A>C
c.1178A>C (p.Asp393Ala)
c.*958A>C (n.*958A>C)
c.860A>C (p.Asp287Ala)
c.*1140A>C (n.*1140A>C)
c.602A>C (p.Asp201Ala)
n.1317A>C
n.944A>C
c.848A>C
c.1277A>C (p.Asp426Ala)
c.*861A>C (n.*861A>C)
c.1556A>C (p.Asp519Ala)
c.770A>C (p.Asp257Ala)
c.1124A>C (p.Asp375Ala)
c.1037A>C (p.Asp346Ala)
n.1341A>C
n.763A>C
c.1268A>C (p.Asp423Ala)
c.998A>C (p.Asp333Ala)
c.1070A>C (p.Asp357Ala)
c.1241A>C (p.Asp414Ala)
c.1175A>C (p.Asp392Ala)
n.285A>C
c.1247A>C (p.Asp416Ala)
c.1040A>C (p.Asp347Ala)
c.1553A>C (p.Asp518Ala)
c.1244A>C (p.Asp415Ala)
c.1172A>C (p.Asp391Ala)
c.1121A>C (p.Asp374Ala)
c.1034A>C (p.Asp345Ala)
c.857A>C (p.Asp286Ala)
c.1013A>C (p.Asp338Ala)
c.1181A>C (p.Asp394Ala)
18g.55254598C>ACA402533551TCF4c.1249G>T (p.Asp417Tyr)
c.766G>T (p.Asp256Tyr)
n.929G>T
c.1177G>T (p.Asp393Tyr)
c.*957G>T (n.*957G>T)
c.859G>T (p.Asp287Tyr)
c.*1139G>T (n.*1139G>T)
c.601G>T (p.Asp201Tyr)
n.1316G>T
n.943G>T
c.847G>T
c.1276G>T (p.Asp426Tyr)
c.*860G>T (n.*860G>T)
c.1555G>T (p.Asp519Tyr)
c.769G>T (p.Asp257Tyr)
c.1123G>T (p.Asp375Tyr)
c.1036G>T (p.Asp346Tyr)
n.1340G>T
n.762G>T
c.1267G>T (p.Asp423Tyr)
c.997G>T (p.Asp333Tyr)
c.1069G>T (p.Asp357Tyr)
c.1240G>T (p.Asp414Tyr)
c.1174G>T (p.Asp392Tyr)
n.284G>T
c.1246G>T (p.Asp416Tyr)
c.1039G>T (p.Asp347Tyr)
c.1552G>T (p.Asp518Tyr)
c.1243G>T (p.Asp415Tyr)
c.1171G>T (p.Asp391Tyr)
c.1120G>T (p.Asp374Tyr)
c.1033G>T (p.Asp345Tyr)
c.856G>T (p.Asp286Tyr)
c.1012G>T (p.Asp338Tyr)
c.1180G>T (p.Asp394Tyr)
18g.55254598C>GCA402533553TCF4c.1249G>C (p.Asp417His)
c.766G>C (p.Asp256His)
n.929G>C
c.1177G>C (p.Asp393His)
c.*957G>C (n.*957G>C)
c.859G>C (p.Asp287His)
c.*1139G>C (n.*1139G>C)
c.601G>C (p.Asp201His)
n.1316G>C
n.943G>C
c.847G>C
c.1276G>C (p.Asp426His)
c.*860G>C (n.*860G>C)
c.1555G>C (p.Asp519His)
c.769G>C (p.Asp257His)
c.1123G>C (p.Asp375His)
c.1036G>C (p.Asp346His)
n.1340G>C
n.762G>C
c.1267G>C (p.Asp423His)
c.997G>C (p.Asp333His)
c.1069G>C (p.Asp357His)
c.1240G>C (p.Asp414His)
c.1174G>C (p.Asp392His)
n.284G>C
c.1246G>C (p.Asp416His)
c.1039G>C (p.Asp347His)
c.1552G>C (p.Asp518His)
c.1243G>C (p.Asp415His)
c.1171G>C (p.Asp391His)
c.1120G>C (p.Asp374His)
c.1033G>C (p.Asp345His)
c.856G>C (p.Asp286His)
c.1012G>C (p.Asp338His)
c.1180G>C (p.Asp394His)
18g.55254598C>TCA402533555TCF4c.1249G>A (p.Asp417Asn)
c.766G>A (p.Asp256Asn)
n.929G>A
c.1177G>A (p.Asp393Asn)
c.*957G>A (n.*957G>A)
c.859G>A (p.Asp287Asn)
c.*1139G>A (n.*1139G>A)
c.601G>A (p.Asp201Asn)
n.1316G>A
n.943G>A
c.847G>A
c.1276G>A (p.Asp426Asn)
c.*860G>A (n.*860G>A)
c.1555G>A (p.Asp519Asn)
c.769G>A (p.Asp257Asn)
c.1123G>A (p.Asp375Asn)
c.1036G>A (p.Asp346Asn)
n.1340G>A
n.762G>A
c.1267G>A (p.Asp423Asn)
c.997G>A (p.Asp333Asn)
c.1069G>A (p.Asp357Asn)
c.1240G>A (p.Asp414Asn)
c.1174G>A (p.Asp392Asn)
n.284G>A
c.1246G>A (p.Asp416Asn)
c.1039G>A (p.Asp347Asn)
c.1552G>A (p.Asp518Asn)
c.1243G>A (p.Asp415Asn)
c.1171G>A (p.Asp391Asn)
c.1120G>A (p.Asp374Asn)
c.1033G>A (p.Asp345Asn)
c.856G>A (p.Asp286Asn)
c.1012G>A (p.Asp338Asn)
c.1180G>A (p.Asp394Asn)
 COSMIC COSMIC COSMIC
18g.55254601delCA2573054682TCF4c.1249del (p.Asp417ThrfsTer?)
c.766del (p.Asp256ThrfsTer?)
n.929del
c.1177del (p.Asp393ThrfsTer?)
c.*957del (n.*957del)
c.859del (p.Asp287ThrfsTer?)
c.*1139del (n.*1139del)
c.601del (p.Asp201ThrfsTer?)
n.1316del
n.943del
c.847del
c.1276del (p.Asp426ThrfsTer?)
c.*860del (n.*860del)
c.1555del (p.Asp519ThrfsTer?)
c.769del (p.Asp257ThrfsTer?)
c.1123del (p.Asp375ThrfsTer?)
c.1036del (p.Asp346ThrfsTer?)
n.1340del
n.762del
c.1267del (p.Asp423ThrfsTer?)
c.997del (p.Asp333ThrfsTer?)
c.1069del (p.Asp357ThrfsTer?)
c.1240del (p.Asp414ThrfsTer?)
c.1174del (p.Asp392ThrfsTer?)
n.284del
c.1246del (p.Asp416ThrfsTer?)
c.1039del (p.Asp347ThrfsTer?)
c.1552del (p.Asp518ThrfsTer?)
c.1243del (p.Asp415ThrfsTer?)
c.1171del (p.Asp391ThrfsTer?)
c.1120del (p.Asp374ThrfsTer?)
c.1033del (p.Asp345ThrfsTer?)
c.856del (p.Asp286ThrfsTer?)
c.1012del (p.Asp338ThrfsTer?)
c.1180del (p.Asp394ThrfsTer?)
 ClinVar dbSNP
18g.55254599C>ACA504007090TCF4c.1248G>T (p.Gly416=)
c.765G>T (p.Gly255=)
n.928G>T
c.1176G>T (p.Gly392=)
c.*956G>T (n.*956G>T)
c.858G>T (p.Gly286=)
c.*1138G>T (n.*1138G>T)
c.600G>T (p.Gly200=)
n.1315G>T
n.942G>T
c.846G>T
c.1275G>T (p.Gly425=)
c.*859G>T (n.*859G>T)
c.1554G>T (p.Gly518=)
c.768G>T (p.Gly256=)
c.1122G>T (p.Gly374=)
c.1035G>T (p.Gly345=)
n.1339G>T
n.761G>T
c.1266G>T (p.Gly422=)
c.996G>T (p.Gly332=)
c.1068G>T (p.Gly356=)
c.1239G>T (p.Gly413=)
c.1173G>T (p.Gly391=)
n.283G>T
c.1245G>T (p.Gly415=)
c.1038G>T (p.Gly346=)
c.1551G>T (p.Gly517=)
c.1242G>T (p.Gly414=)
c.1170G>T (p.Gly390=)
c.1119G>T (p.Gly373=)
c.1032G>T (p.Gly344=)
c.855G>T (p.Gly285=)
c.1011G>T (p.Gly337=)
c.1179G>T (p.Gly393=)
18g.55254599C=CA2305016261TCF4c.1248G= (p.Gly416=)
c.765G= (p.Gly255=)
n.928G=
c.1176G= (p.Gly392=)
c.*956G= (n.*956G=)
c.858G= (p.Gly286=)
c.*1138G= (n.*1138G=)
c.600G= (p.Gly200=)
n.1315G=
n.942G=
c.846G=
c.1275G= (p.Gly425=)
c.*859G= (n.*859G=)
c.1554G= (p.Gly518=)
c.768G= (p.Gly256=)
c.1122G= (p.Gly374=)
c.1035G= (p.Gly345=)
n.1339G=
n.761G=
c.1266G= (p.Gly422=)
c.996G= (p.Gly332=)
c.1068G= (p.Gly356=)
c.1239G= (p.Gly413=)
c.1173G= (p.Gly391=)
n.283G=
c.1245G= (p.Gly415=)
c.1038G= (p.Gly346=)
c.1551G= (p.Gly517=)
c.1242G= (p.Gly414=)
c.1170G= (p.Gly390=)
c.1119G= (p.Gly373=)
c.1032G= (p.Gly344=)
c.855G= (p.Gly285=)
c.1011G= (p.Gly337=)
c.1179G= (p.Gly393=)
18g.55254599C>GCA504007091TCF4c.1248G>C (p.Gly416=)
c.765G>C (p.Gly255=)
n.928G>C
c.1176G>C (p.Gly392=)
c.*956G>C (n.*956G>C)
c.858G>C (p.Gly286=)
c.*1138G>C (n.*1138G>C)
c.600G>C (p.Gly200=)
n.1315G>C
n.942G>C
c.846G>C
c.1275G>C (p.Gly425=)
c.*859G>C (n.*859G>C)
c.1554G>C (p.Gly518=)
c.768G>C (p.Gly256=)
c.1122G>C (p.Gly374=)
c.1035G>C (p.Gly345=)
n.1339G>C
n.761G>C
c.1266G>C (p.Gly422=)
c.996G>C (p.Gly332=)
c.1068G>C (p.Gly356=)
c.1239G>C (p.Gly413=)
c.1173G>C (p.Gly391=)
n.283G>C
c.1245G>C (p.Gly415=)
c.1038G>C (p.Gly346=)
c.1551G>C (p.Gly517=)
c.1242G>C (p.Gly414=)
c.1170G>C (p.Gly390=)
c.1119G>C (p.Gly373=)
c.1032G>C (p.Gly344=)
c.855G>C (p.Gly285=)
c.1011G>C (p.Gly337=)
c.1179G>C (p.Gly393=)
18g.55254599C>TCA504007092TCF4c.1248G>A (p.Gly416=)
c.765G>A (p.Gly255=)
n.928G>A
c.1176G>A (p.Gly392=)
c.*956G>A (n.*956G>A)
c.858G>A (p.Gly286=)
c.*1138G>A (n.*1138G>A)
c.600G>A (p.Gly200=)
n.1315G>A
n.942G>A
c.846G>A
c.1275G>A (p.Gly425=)
c.*859G>A (n.*859G>A)
c.1554G>A (p.Gly518=)
c.768G>A (p.Gly256=)
c.1122G>A (p.Gly374=)
c.1035G>A (p.Gly345=)
n.1339G>A
n.761G>A
c.1266G>A (p.Gly422=)
c.996G>A (p.Gly332=)
c.1068G>A (p.Gly356=)
c.1239G>A (p.Gly413=)
c.1173G>A (p.Gly391=)
n.283G>A
c.1245G>A (p.Gly415=)
c.1038G>A (p.Gly346=)
c.1551G>A (p.Gly517=)
c.1242G>A (p.Gly414=)
c.1170G>A (p.Gly390=)
c.1119G>A (p.Gly373=)
c.1032G>A (p.Gly344=)
c.855G>A (p.Gly285=)
c.1011G>A (p.Gly337=)
c.1179G>A (p.Gly393=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.55254600C>ACA402533556TCF4c.1247G>T (p.Gly416Val)
c.764G>T (p.Gly255Val)
n.927G>T
c.1175G>T (p.Gly392Val)
c.*955G>T (n.*955G>T)
c.857G>T (p.Gly286Val)
c.*1137G>T (n.*1137G>T)
c.599G>T (p.Gly200Val)
n.1314G>T
n.941G>T
c.845G>T
c.1274G>T (p.Gly425Val)
c.*858G>T (n.*858G>T)
c.1553G>T (p.Gly518Val)
c.767G>T (p.Gly256Val)
c.1121G>T (p.Gly374Val)
c.1034G>T (p.Gly345Val)
n.1338G>T
n.760G>T
c.1265G>T (p.Gly422Val)
c.995G>T (p.Gly332Val)
c.1067G>T (p.Gly356Val)
c.1238G>T (p.Gly413Val)
c.1172G>T (p.Gly391Val)
n.282G>T
c.1244G>T (p.Gly415Val)
c.1037G>T (p.Gly346Val)
c.1550G>T (p.Gly517Val)
c.1241G>T (p.Gly414Val)
c.1169G>T (p.Gly390Val)
c.1118G>T (p.Gly373Val)
c.1031G>T (p.Gly344Val)
c.854G>T (p.Gly285Val)
c.1010G>T (p.Gly337Val)
c.1178G>T (p.Gly393Val)
18g.55254600C>GCA402533558TCF4c.1247G>C (p.Gly416Ala)
c.764G>C (p.Gly255Ala)
n.927G>C
c.1175G>C (p.Gly392Ala)
c.*955G>C (n.*955G>C)
c.857G>C (p.Gly286Ala)
c.*1137G>C (n.*1137G>C)
c.599G>C (p.Gly200Ala)
n.1314G>C
n.941G>C
c.845G>C
c.1274G>C (p.Gly425Ala)
c.*858G>C (n.*858G>C)
c.1553G>C (p.Gly518Ala)
c.767G>C (p.Gly256Ala)
c.1121G>C (p.Gly374Ala)
c.1034G>C (p.Gly345Ala)
n.1338G>C
n.760G>C
c.1265G>C (p.Gly422Ala)
c.995G>C (p.Gly332Ala)
c.1067G>C (p.Gly356Ala)
c.1238G>C (p.Gly413Ala)
c.1172G>C (p.Gly391Ala)
n.282G>C
c.1244G>C (p.Gly415Ala)
c.1037G>C (p.Gly346Ala)
c.1550G>C (p.Gly517Ala)
c.1241G>C (p.Gly414Ala)
c.1169G>C (p.Gly390Ala)
c.1118G>C (p.Gly373Ala)
c.1031G>C (p.Gly344Ala)
c.854G>C (p.Gly285Ala)
c.1010G>C (p.Gly337Ala)
c.1178G>C (p.Gly393Ala)
18g.55254600C>TCA402533560TCF4c.1247G>A (p.Gly416Glu)
c.764G>A (p.Gly255Glu)
n.927G>A
c.1175G>A (p.Gly392Glu)
c.*955G>A (n.*955G>A)
c.857G>A (p.Gly286Glu)
c.*1137G>A (n.*1137G>A)
c.599G>A (p.Gly200Glu)
n.1314G>A
n.941G>A
c.845G>A
c.1274G>A (p.Gly425Glu)
c.*858G>A (n.*858G>A)
c.1553G>A (p.Gly518Glu)
c.767G>A (p.Gly256Glu)
c.1121G>A (p.Gly374Glu)
c.1034G>A (p.Gly345Glu)
n.1338G>A
n.760G>A
c.1265G>A (p.Gly422Glu)
c.995G>A (p.Gly332Glu)
c.1067G>A (p.Gly356Glu)
c.1238G>A (p.Gly413Glu)
c.1172G>A (p.Gly391Glu)
n.282G>A
c.1244G>A (p.Gly415Glu)
c.1037G>A (p.Gly346Glu)
c.1550G>A (p.Gly517Glu)
c.1241G>A (p.Gly414Glu)
c.1169G>A (p.Gly390Glu)
c.1118G>A (p.Gly373Glu)
c.1031G>A (p.Gly344Glu)
c.854G>A (p.Gly285Glu)
c.1010G>A (p.Gly337Glu)
c.1178G>A (p.Gly393Glu)
18g.55254601C>ACA402533562TCF4c.1246G>T (p.Gly416Trp)
c.763G>T (p.Gly255Trp)
n.926G>T
c.1174G>T (p.Gly392Trp)
c.*954G>T (n.*954G>T)
c.856G>T (p.Gly286Trp)
c.*1136G>T (n.*1136G>T)
c.598G>T (p.Gly200Trp)
n.1313G>T
n.940G>T
c.844G>T
c.1273G>T (p.Gly425Trp)
c.*857G>T (n.*857G>T)
c.1552G>T (p.Gly518Trp)
c.766G>T (p.Gly256Trp)
c.1120G>T (p.Gly374Trp)
c.1033G>T (p.Gly345Trp)
n.1337G>T
n.759G>T
c.1264G>T (p.Gly422Trp)
c.994G>T (p.Gly332Trp)
c.1066G>T (p.Gly356Trp)
c.1237G>T (p.Gly413Trp)
c.1171G>T (p.Gly391Trp)
n.281G>T
c.1243G>T (p.Gly415Trp)
c.1036G>T (p.Gly346Trp)
c.1549G>T (p.Gly517Trp)
c.1240G>T (p.Gly414Trp)
c.1168G>T (p.Gly390Trp)
c.1117G>T (p.Gly373Trp)
c.1030G>T (p.Gly344Trp)
c.853G>T (p.Gly285Trp)
c.1009G>T (p.Gly337Trp)
c.1177G>T (p.Gly393Trp)
18g.55254601C>GCA402533563TCF4c.1246G>C (p.Gly416Arg)
c.763G>C (p.Gly255Arg)
n.926G>C
c.1174G>C (p.Gly392Arg)
c.*954G>C (n.*954G>C)
c.856G>C (p.Gly286Arg)
c.*1136G>C (n.*1136G>C)
c.598G>C (p.Gly200Arg)
n.1313G>C
n.940G>C
c.844G>C
c.1273G>C (p.Gly425Arg)
c.*857G>C (n.*857G>C)
c.1552G>C (p.Gly518Arg)
c.766G>C (p.Gly256Arg)
c.1120G>C (p.Gly374Arg)
c.1033G>C (p.Gly345Arg)
n.1337G>C
n.759G>C
c.1264G>C (p.Gly422Arg)
c.994G>C (p.Gly332Arg)
c.1066G>C (p.Gly356Arg)
c.1237G>C (p.Gly413Arg)
c.1171G>C (p.Gly391Arg)
n.281G>C
c.1243G>C (p.Gly415Arg)
c.1036G>C (p.Gly346Arg)
c.1549G>C (p.Gly517Arg)
c.1240G>C (p.Gly414Arg)
c.1168G>C (p.Gly390Arg)
c.1117G>C (p.Gly373Arg)
c.1030G>C (p.Gly344Arg)
c.853G>C (p.Gly285Arg)
c.1009G>C (p.Gly337Arg)
c.1177G>C (p.Gly393Arg)
18g.55254601C>TCA402533565TCF4c.1246G>A (p.Gly416Arg)
c.763G>A (p.Gly255Arg)
n.926G>A
c.1174G>A (p.Gly392Arg)
c.*954G>A (n.*954G>A)
c.856G>A (p.Gly286Arg)
c.*1136G>A (n.*1136G>A)
c.598G>A (p.Gly200Arg)
n.1313G>A
n.940G>A
c.844G>A
c.1273G>A (p.Gly425Arg)
c.*857G>A (n.*857G>A)
c.1552G>A (p.Gly518Arg)
c.766G>A (p.Gly256Arg)
c.1120G>A (p.Gly374Arg)
c.1033G>A (p.Gly345Arg)
n.1337G>A
n.759G>A
c.1264G>A (p.Gly422Arg)
c.994G>A (p.Gly332Arg)
c.1066G>A (p.Gly356Arg)
c.1237G>A (p.Gly413Arg)
c.1171G>A (p.Gly391Arg)
n.281G>A
c.1243G>A (p.Gly415Arg)
c.1036G>A (p.Gly346Arg)
c.1549G>A (p.Gly517Arg)
c.1240G>A (p.Gly414Arg)
c.1168G>A (p.Gly390Arg)
c.1117G>A (p.Gly373Arg)
c.1030G>A (p.Gly344Arg)
c.853G>A (p.Gly285Arg)
c.1009G>A (p.Gly337Arg)
c.1177G>A (p.Gly393Arg)
 gnomAD v4
18g.55254602_55254609delCA2739265772TCF4c.1239_1246del (p.Gly416AlafsTer9)
c.756_763del (p.Gly255AlafsTer9)
n.919_926del
c.1167_1174del (p.Gly392AlafsTer9)
c.*947_*954del (n.*947_*954del)
c.849_856del (p.Gly286AlafsTer9)
c.*1129_*1136del (n.*1129_*1136del)
c.591_598del (p.Gly200AlafsTer9)
n.1306_1313del
n.933_940del
c.837_844del
c.1266_1273del (p.Gly425AlafsTer9)
c.*850_*857del (n.*850_*857del)
c.1545_1552del (p.Gly518AlafsTer9)
c.759_766del (p.Gly256AlafsTer9)
c.1113_1120del (p.Gly374AlafsTer9)
c.1026_1033del (p.Gly345AlafsTer9)
n.1330_1337del
n.752_759del
c.1257_1264del (p.Gly422AlafsTer9)
c.987_994del (p.Gly332AlafsTer9)
c.1059_1066del (p.Gly356AlafsTer9)
c.1230_1237del (p.Gly413AlafsTer9)
c.1164_1171del (p.Gly391AlafsTer9)
n.274_281del
c.1236_1243del (p.Gly415AlafsTer9)
c.1029_1036del (p.Gly346AlafsTer9)
c.1542_1549del (p.Gly517AlafsTer9)
c.1233_1240del (p.Gly414AlafsTer9)
c.1161_1168del (p.Gly390AlafsTer9)
c.1110_1117del (p.Gly373AlafsTer9)
c.1023_1030del (p.Gly344AlafsTer9)
c.846_853del (p.Gly285AlafsTer9)
c.1002_1009del (p.Gly337AlafsTer9)
c.1170_1177del (p.Gly393AlafsTer9)
 ClinVar
18g.55254602A=CA2305016263TCF4c.1245T= (p.His415=)
c.762T= (p.His254=)
n.925T=
c.1173T= (p.His391=)
c.*953T= (n.*953T=)
c.855T= (p.His285=)
c.*1135T= (n.*1135T=)
c.597T= (p.His199=)
n.1312T=
n.939T=
c.843T=
c.1272T= (p.His424=)
c.*856T= (n.*856T=)
c.1551T= (p.His517=)
c.765T= (p.His255=)
c.1119T= (p.His373=)
c.1032T= (p.His344=)
n.1336T=
n.758T=
c.1263T= (p.His421=)
c.993T= (p.His331=)
c.1065T= (p.His355=)
c.1236T= (p.His412=)
c.1170T= (p.His390=)
n.280T=
c.1242T= (p.His414=)
c.1035T= (p.His345=)
c.1548T= (p.His516=)
c.1239T= (p.His413=)
c.1167T= (p.His389=)
c.1116T= (p.His372=)
c.1029T= (p.His343=)
c.852T= (p.His284=)
c.1008T= (p.His336=)
c.1176T= (p.His392=)
18g.55254602A>CCA402533570TCF4c.1245T>G (p.His415Gln)
c.762T>G (p.His254Gln)
n.925T>G
c.1173T>G (p.His391Gln)
c.*953T>G (n.*953T>G)
c.855T>G (p.His285Gln)
c.*1135T>G (n.*1135T>G)
c.597T>G (p.His199Gln)
n.1312T>G
n.939T>G
c.843T>G
c.1272T>G (p.His424Gln)
c.*856T>G (n.*856T>G)
c.1551T>G (p.His517Gln)
c.765T>G (p.His255Gln)
c.1119T>G (p.His373Gln)
c.1032T>G (p.His344Gln)
n.1336T>G
n.758T>G
c.1263T>G (p.His421Gln)
c.993T>G (p.His331Gln)
c.1065T>G (p.His355Gln)
c.1236T>G (p.His412Gln)
c.1170T>G (p.His390Gln)
n.280T>G
c.1242T>G (p.His414Gln)
c.1035T>G (p.His345Gln)
c.1548T>G (p.His516Gln)
c.1239T>G (p.His413Gln)
c.1167T>G (p.His389Gln)
c.1116T>G (p.His372Gln)
c.1029T>G (p.His343Gln)
c.852T>G (p.His284Gln)
c.1008T>G (p.His336Gln)
c.1176T>G (p.His392Gln)
18g.55254602A>GCA240473TCF4c.1245T>C (p.His415=)
c.762T>C (p.His254=)
n.925T>C
c.1173T>C (p.His391=)
c.*953T>C (n.*953T>C)
c.855T>C (p.His285=)
c.*1135T>C (n.*1135T>C)
c.597T>C (p.His199=)
n.1312T>C
n.939T>C
c.843T>C
c.1272T>C (p.His424=)
c.*856T>C (n.*856T>C)
c.1551T>C (p.His517=)
c.765T>C (p.His255=)
c.1119T>C (p.His373=)
c.1032T>C (p.His344=)
n.1336T>C
n.758T>C
c.1263T>C (p.His421=)
c.993T>C (p.His331=)
c.1065T>C (p.His355=)
c.1236T>C (p.His412=)
c.1170T>C (p.His390=)
n.280T>C
c.1242T>C (p.His414=)
c.1035T>C (p.His345=)
c.1548T>C (p.His516=)
c.1239T>C (p.His413=)
c.1167T>C (p.His389=)
c.1116T>C (p.His372=)
c.1029T>C (p.His343=)
c.852T>C (p.His284=)
c.1008T>C (p.His336=)
c.1176T>C (p.His392=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.55254602A>TCA402533568TCF4c.1245T>A (p.His415Gln)
c.762T>A (p.His254Gln)
n.925T>A
c.1173T>A (p.His391Gln)
c.*953T>A (n.*953T>A)
c.855T>A (p.His285Gln)
c.*1135T>A (n.*1135T>A)
c.597T>A (p.His199Gln)
n.1312T>A
n.939T>A
c.843T>A
c.1272T>A (p.His424Gln)
c.*856T>A (n.*856T>A)
c.1551T>A (p.His517Gln)
c.765T>A (p.His255Gln)
c.1119T>A (p.His373Gln)
c.1032T>A (p.His344Gln)
n.1336T>A
n.758T>A
c.1263T>A (p.His421Gln)
c.993T>A (p.His331Gln)
c.1065T>A (p.His355Gln)
c.1236T>A (p.His412Gln)
c.1170T>A (p.His390Gln)
n.280T>A
c.1242T>A (p.His414Gln)
c.1035T>A (p.His345Gln)
c.1548T>A (p.His516Gln)
c.1239T>A (p.His413Gln)
c.1167T>A (p.His389Gln)
c.1116T>A (p.His372Gln)
c.1029T>A (p.His343Gln)
c.852T>A (p.His284Gln)
c.1008T>A (p.His336Gln)
c.1176T>A (p.His392Gln)
18g.55254602_55254603delinsATCA2305016262TCF4c.1244_1245delinsAT (p.His415=)
c.761_762delinsAT (p.His254=)
n.924_925delinsAT
c.1172_1173delinsAT (p.His391=)
c.*952_*953delinsAT (n.*952_*953delinsAT)
c.854_855delinsAT (p.His285=)
c.*1134_*1135delinsAT (n.*1134_*1135delinsAT)
c.596_597delinsAT (p.His199=)
n.1311_1312delinsAT
n.938_939delinsAT
c.842_843delinsAT
c.1271_1272delinsAT (p.His424=)
c.*855_*856delinsAT (n.*855_*856delinsAT)
c.1550_1551delinsAT (p.His517=)
c.764_765delinsAT (p.His255=)
c.1118_1119delinsAT (p.His373=)
c.1031_1032delinsAT (p.His344=)
n.1335_1336delinsAT
n.757_758delinsAT
c.1262_1263delinsAT (p.His421=)
c.992_993delinsAT (p.His331=)
c.1064_1065delinsAT (p.His355=)
c.1235_1236delinsAT (p.His412=)
c.1169_1170delinsAT (p.His390=)
n.279_280delinsAT
c.1241_1242delinsAT (p.His414=)
c.1034_1035delinsAT (p.His345=)
c.1547_1548delinsAT (p.His516=)
c.1238_1239delinsAT (p.His413=)
c.1166_1167delinsAT (p.His389=)
c.1115_1116delinsAT (p.His372=)
c.1028_1029delinsAT (p.His343=)
c.851_852delinsAT (p.His284=)
c.1007_1008delinsAT (p.His336=)
c.1175_1176delinsAT (p.His392=)
18g.55254603delCA915951557TCF4c.1244del (p.His415LeufsTer?)
c.761del (p.His254LeufsTer?)
n.924del
c.1172del (p.His391LeufsTer?)
c.*952del (n.*952del)
c.854del (p.His285LeufsTer?)
c.*1134del (n.*1134del)
c.596del (p.His199LeufsTer?)
n.1311del
n.938del
c.842del
c.1271del (p.His424LeufsTer?)
c.*855del (n.*855del)
c.1550del (p.His517LeufsTer?)
c.764del (p.His255LeufsTer?)
c.1118del (p.His373LeufsTer?)
c.1031del (p.His344LeufsTer?)
n.1335del
n.757del
c.1262del (p.His421LeufsTer?)
c.992del (p.His331LeufsTer?)
c.1064del (p.His355LeufsTer?)
c.1235del (p.His412LeufsTer?)
c.1169del (p.His390LeufsTer?)
n.279del
c.1241del (p.His414LeufsTer?)
c.1034del (p.His345LeufsTer?)
c.1547del (p.His516LeufsTer?)
c.1238del (p.His413LeufsTer?)
c.1166del (p.His389LeufsTer?)
c.1115del (p.His372LeufsTer?)
c.1028del (p.His343LeufsTer?)
c.851del (p.His284LeufsTer?)
c.1007del (p.His336LeufsTer?)
c.1175del (p.His392LeufsTer?)
 ClinVar dbSNP
18g.55254603T>ACA402533572TCF4c.1244A>T (p.His415Leu)
c.761A>T (p.His254Leu)
n.924A>T
c.1172A>T (p.His391Leu)
c.*952A>T (n.*952A>T)
c.854A>T (p.His285Leu)
c.*1134A>T (n.*1134A>T)
c.596A>T (p.His199Leu)
n.1311A>T
n.938A>T
c.842A>T
c.1271A>T (p.His424Leu)
c.*855A>T (n.*855A>T)
c.1550A>T (p.His517Leu)
c.764A>T (p.His255Leu)
c.1118A>T (p.His373Leu)
c.1031A>T (p.His344Leu)
n.1335A>T
n.757A>T
c.1262A>T (p.His421Leu)
c.992A>T (p.His331Leu)
c.1064A>T (p.His355Leu)
c.1235A>T (p.His412Leu)
c.1169A>T (p.His390Leu)
n.279A>T
c.1241A>T (p.His414Leu)
c.1034A>T (p.His345Leu)
c.1547A>T (p.His516Leu)
c.1238A>T (p.His413Leu)
c.1166A>T (p.His389Leu)
c.1115A>T (p.His372Leu)
c.1028A>T (p.His343Leu)
c.851A>T (p.His284Leu)
c.1007A>T (p.His336Leu)
c.1175A>T (p.His392Leu)
 gnomAD v4
18g.55254603T>CCA402533574TCF4c.1244A>G (p.His415Arg)
c.761A>G (p.His254Arg)
n.924A>G
c.1172A>G (p.His391Arg)
c.*952A>G (n.*952A>G)
c.854A>G (p.His285Arg)
c.*1134A>G (n.*1134A>G)
c.596A>G (p.His199Arg)
n.1311A>G
n.938A>G
c.842A>G
c.1271A>G (p.His424Arg)
c.*855A>G (n.*855A>G)
c.1550A>G (p.His517Arg)
c.764A>G (p.His255Arg)
c.1118A>G (p.His373Arg)
c.1031A>G (p.His344Arg)
n.1335A>G
n.757A>G
c.1262A>G (p.His421Arg)
c.992A>G (p.His331Arg)
c.1064A>G (p.His355Arg)
c.1235A>G (p.His412Arg)
c.1169A>G (p.His390Arg)
n.279A>G
c.1241A>G (p.His414Arg)
c.1034A>G (p.His345Arg)
c.1547A>G (p.His516Arg)
c.1238A>G (p.His413Arg)
c.1166A>G (p.His389Arg)
c.1115A>G (p.His372Arg)
c.1028A>G (p.His343Arg)
c.851A>G (p.His284Arg)
c.1007A>G (p.His336Arg)
c.1175A>G (p.His392Arg)
18g.55254603T>GCA402533575TCF4c.1244A>C (p.His415Pro)
c.761A>C (p.His254Pro)
n.924A>C
c.1172A>C (p.His391Pro)
c.*952A>C (n.*952A>C)
c.854A>C (p.His285Pro)
c.*1134A>C (n.*1134A>C)
c.596A>C (p.His199Pro)
n.1311A>C
n.938A>C
c.842A>C
c.1271A>C (p.His424Pro)
c.*855A>C (n.*855A>C)
c.1550A>C (p.His517Pro)
c.764A>C (p.His255Pro)
c.1118A>C (p.His373Pro)
c.1031A>C (p.His344Pro)
n.1335A>C
n.757A>C
c.1262A>C (p.His421Pro)
c.992A>C (p.His331Pro)
c.1064A>C (p.His355Pro)
c.1235A>C (p.His412Pro)
c.1169A>C (p.His390Pro)
n.279A>C
c.1241A>C (p.His414Pro)
c.1034A>C (p.His345Pro)
c.1547A>C (p.His516Pro)
c.1238A>C (p.His413Pro)
c.1166A>C (p.His389Pro)
c.1115A>C (p.His372Pro)
c.1028A>C (p.His343Pro)
c.851A>C (p.His284Pro)
c.1007A>C (p.His336Pro)
c.1175A>C (p.His392Pro)
18g.55254604G>ACA402533577TCF4c.1243C>T (p.His415Tyr)
c.760C>T (p.His254Tyr)
n.923C>T
c.1171C>T (p.His391Tyr)
c.*951C>T (n.*951C>T)
c.853C>T (p.His285Tyr)
c.*1133C>T (n.*1133C>T)
c.595C>T (p.His199Tyr)
n.1310C>T
n.937C>T
c.841C>T
c.1270C>T (p.His424Tyr)
c.*854C>T (n.*854C>T)
c.1549C>T (p.His517Tyr)
c.763C>T (p.His255Tyr)
c.1117C>T (p.His373Tyr)
c.1030C>T (p.His344Tyr)
n.1334C>T
n.756C>T
c.1261C>T (p.His421Tyr)
c.991C>T (p.His331Tyr)
c.1063C>T (p.His355Tyr)
c.1234C>T (p.His412Tyr)
c.1168C>T (p.His390Tyr)
n.278C>T
c.1240C>T (p.His414Tyr)
c.1033C>T (p.His345Tyr)
c.1546C>T (p.His516Tyr)
c.1237C>T (p.His413Tyr)
c.1165C>T (p.His389Tyr)
c.1114C>T (p.His372Tyr)
c.1027C>T (p.His343Tyr)
c.850C>T (p.His284Tyr)
c.1006C>T (p.His336Tyr)
c.1174C>T (p.His392Tyr)
18g.55254604G>CCA402533578TCF4c.1243C>G (p.His415Asp)
c.760C>G (p.His254Asp)
n.923C>G
c.1171C>G (p.His391Asp)
c.*951C>G (n.*951C>G)
c.853C>G (p.His285Asp)
c.*1133C>G (n.*1133C>G)
c.595C>G (p.His199Asp)
n.1310C>G
n.937C>G
c.841C>G
c.1270C>G (p.His424Asp)
c.*854C>G (n.*854C>G)
c.1549C>G (p.His517Asp)
c.763C>G (p.His255Asp)
c.1117C>G (p.His373Asp)
c.1030C>G (p.His344Asp)
n.1334C>G
n.756C>G
c.1261C>G (p.His421Asp)
c.991C>G (p.His331Asp)
c.1063C>G (p.His355Asp)
c.1234C>G (p.His412Asp)
c.1168C>G (p.His390Asp)
n.278C>G
c.1240C>G (p.His414Asp)
c.1033C>G (p.His345Asp)
c.1546C>G (p.His516Asp)
c.1237C>G (p.His413Asp)
c.1165C>G (p.His389Asp)
c.1114C>G (p.His372Asp)
c.1027C>G (p.His343Asp)
c.850C>G (p.His284Asp)
c.1006C>G (p.His336Asp)
c.1174C>G (p.His392Asp)
18g.55254604G>TCA402533580TCF4c.1243C>A (p.His415Asn)
c.760C>A (p.His254Asn)
n.923C>A
c.1171C>A (p.His391Asn)
c.*951C>A (n.*951C>A)
c.853C>A (p.His285Asn)
c.*1133C>A (n.*1133C>A)
c.595C>A (p.His199Asn)
n.1310C>A
n.937C>A
c.841C>A
c.1270C>A (p.His424Asn)
c.*854C>A (n.*854C>A)
c.1549C>A (p.His517Asn)
c.763C>A (p.His255Asn)
c.1117C>A (p.His373Asn)
c.1030C>A (p.His344Asn)
n.1334C>A
n.756C>A
c.1261C>A (p.His421Asn)
c.991C>A (p.His331Asn)
c.1063C>A (p.His355Asn)
c.1234C>A (p.His412Asn)
c.1168C>A (p.His390Asn)
n.278C>A
c.1240C>A (p.His414Asn)
c.1033C>A (p.His345Asn)
c.1546C>A (p.His516Asn)
c.1237C>A (p.His413Asn)
c.1165C>A (p.His389Asn)
c.1114C>A (p.His372Asn)
c.1027C>A (p.His343Asn)
c.850C>A (p.His284Asn)
c.1006C>A (p.His336Asn)
c.1174C>A (p.His392Asn)
18g.55254605A=CA2305016264TCF4c.1242T= (p.Gly414=)
c.759T= (p.Gly253=)
n.922T=
c.1170T= (p.Gly390=)
c.*950T= (n.*950T=)
c.852T= (p.Gly284=)
c.*1132T= (n.*1132T=)
c.594T= (p.Gly198=)
n.1309T=
n.936T=
c.840T=
c.1269T= (p.Gly423=)
c.*853T= (n.*853T=)
c.1548T= (p.Gly516=)
c.762T= (p.Gly254=)
c.1116T= (p.Gly372=)
c.1029T= (p.Gly343=)
n.1333T=
n.755T=
c.1260T= (p.Gly420=)
c.990T= (p.Gly330=)
c.1062T= (p.Gly354=)
c.1233T= (p.Gly411=)
c.1167T= (p.Gly389=)
n.277T=
c.1239T= (p.Gly413=)
c.1032T= (p.Gly344=)
c.1545T= (p.Gly515=)
c.1236T= (p.Gly412=)
c.1164T= (p.Gly388=)
c.1113T= (p.Gly371=)
c.1026T= (p.Gly342=)
c.849T= (p.Gly283=)
c.1005T= (p.Gly335=)
c.1173T= (p.Gly391=)
18g.55254605A>CCA504007094TCF4c.1242T>G (p.Gly414=)
c.759T>G (p.Gly253=)
n.922T>G
c.1170T>G (p.Gly390=)
c.*950T>G (n.*950T>G)
c.852T>G (p.Gly284=)
c.*1132T>G (n.*1132T>G)
c.594T>G (p.Gly198=)
n.1309T>G
n.936T>G
c.840T>G
c.1269T>G (p.Gly423=)
c.*853T>G (n.*853T>G)
c.1548T>G (p.Gly516=)
c.762T>G (p.Gly254=)
c.1116T>G (p.Gly372=)
c.1029T>G (p.Gly343=)
n.1333T>G
n.755T>G
c.1260T>G (p.Gly420=)
c.990T>G (p.Gly330=)
c.1062T>G (p.Gly354=)
c.1233T>G (p.Gly411=)
c.1167T>G (p.Gly389=)
n.277T>G
c.1239T>G (p.Gly413=)
c.1032T>G (p.Gly344=)
c.1545T>G (p.Gly515=)
c.1236T>G (p.Gly412=)
c.1164T>G (p.Gly388=)
c.1113T>G (p.Gly371=)
c.1026T>G (p.Gly342=)
c.849T>G (p.Gly283=)
c.1005T>G (p.Gly335=)
c.1173T>G (p.Gly391=)
 gnomAD v4
18g.55254605A>GCA8970242TCF4c.1242T>C (p.Gly414=)
c.759T>C (p.Gly253=)
n.922T>C
c.1170T>C (p.Gly390=)
c.*950T>C (n.*950T>C)
c.852T>C (p.Gly284=)
c.*1132T>C (n.*1132T>C)
c.594T>C (p.Gly198=)
n.1309T>C
n.936T>C
c.840T>C
c.1269T>C (p.Gly423=)
c.*853T>C (n.*853T>C)
c.1548T>C (p.Gly516=)
c.762T>C (p.Gly254=)
c.1116T>C (p.Gly372=)
c.1029T>C (p.Gly343=)
n.1333T>C
n.755T>C
c.1260T>C (p.Gly420=)
c.990T>C (p.Gly330=)
c.1062T>C (p.Gly354=)
c.1233T>C (p.Gly411=)
c.1167T>C (p.Gly389=)
n.277T>C
c.1239T>C (p.Gly413=)
c.1032T>C (p.Gly344=)
c.1545T>C (p.Gly515=)
c.1236T>C (p.Gly412=)
c.1164T>C (p.Gly388=)
c.1113T>C (p.Gly371=)
c.1026T>C (p.Gly342=)
c.849T>C (p.Gly283=)
c.1005T>C (p.Gly335=)
c.1173T>C (p.Gly391=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.55254605A>TCA504007093TCF4c.1242T>A (p.Gly414=)
c.759T>A (p.Gly253=)
n.922T>A
c.1170T>A (p.Gly390=)
c.*950T>A (n.*950T>A)
c.852T>A (p.Gly284=)
c.*1132T>A (n.*1132T>A)
c.594T>A (p.Gly198=)
n.1309T>A
n.936T>A
c.840T>A
c.1269T>A (p.Gly423=)
c.*853T>A (n.*853T>A)
c.1548T>A (p.Gly516=)
c.762T>A (p.Gly254=)
c.1116T>A (p.Gly372=)
c.1029T>A (p.Gly343=)
n.1333T>A
n.755T>A
c.1260T>A (p.Gly420=)
c.990T>A (p.Gly330=)
c.1062T>A (p.Gly354=)
c.1233T>A (p.Gly411=)
c.1167T>A (p.Gly389=)
n.277T>A
c.1239T>A (p.Gly413=)
c.1032T>A (p.Gly344=)
c.1545T>A (p.Gly515=)
c.1236T>A (p.Gly412=)
c.1164T>A (p.Gly388=)
c.1113T>A (p.Gly371=)
c.1026T>A (p.Gly342=)
c.849T>A (p.Gly283=)
c.1005T>A (p.Gly335=)
c.1173T>A (p.Gly391=)
18g.55254606C>ACA402533584TCF4c.1241G>T (p.Gly414Val)
c.758G>T (p.Gly253Val)
n.921G>T
c.1169G>T (p.Gly390Val)
c.*949G>T (n.*949G>T)
c.851G>T (p.Gly284Val)
c.*1131G>T (n.*1131G>T)
c.593G>T (p.Gly198Val)
n.1308G>T
n.935G>T
c.839G>T
c.1268G>T (p.Gly423Val)
c.*852G>T (n.*852G>T)
c.1547G>T (p.Gly516Val)
c.761G>T (p.Gly254Val)
c.1115G>T (p.Gly372Val)
c.1028G>T (p.Gly343Val)
n.1332G>T
n.754G>T
c.1259G>T (p.Gly420Val)
c.989G>T (p.Gly330Val)
c.1061G>T (p.Gly354Val)
c.1232G>T (p.Gly411Val)
c.1166G>T (p.Gly389Val)
n.276G>T
c.1238G>T (p.Gly413Val)
c.1031G>T (p.Gly344Val)
c.1544G>T (p.Gly515Val)
c.1235G>T (p.Gly412Val)
c.1163G>T (p.Gly388Val)
c.1112G>T (p.Gly371Val)
c.1025G>T (p.Gly342Val)
c.848G>T (p.Gly283Val)
c.1004G>T (p.Gly335Val)
c.1172G>T (p.Gly391Val)
18g.55254606C>GCA402533586TCF4c.1241G>C (p.Gly414Ala)
c.758G>C (p.Gly253Ala)
n.921G>C
c.1169G>C (p.Gly390Ala)
c.*949G>C (n.*949G>C)
c.851G>C (p.Gly284Ala)
c.*1131G>C (n.*1131G>C)
c.593G>C (p.Gly198Ala)
n.1308G>C
n.935G>C
c.839G>C
c.1268G>C (p.Gly423Ala)
c.*852G>C (n.*852G>C)
c.1547G>C (p.Gly516Ala)
c.761G>C (p.Gly254Ala)
c.1115G>C (p.Gly372Ala)
c.1028G>C (p.Gly343Ala)
n.1332G>C
n.754G>C
c.1259G>C (p.Gly420Ala)
c.989G>C (p.Gly330Ala)
c.1061G>C (p.Gly354Ala)
c.1232G>C (p.Gly411Ala)
c.1166G>C (p.Gly389Ala)
n.276G>C
c.1238G>C (p.Gly413Ala)
c.1031G>C (p.Gly344Ala)
c.1544G>C (p.Gly515Ala)
c.1235G>C (p.Gly412Ala)
c.1163G>C (p.Gly388Ala)
c.1112G>C (p.Gly371Ala)
c.1025G>C (p.Gly342Ala)
c.848G>C (p.Gly283Ala)
c.1004G>C (p.Gly335Ala)
c.1172G>C (p.Gly391Ala)
18g.55254606C>TCA402533588TCF4c.1241G>A (p.Gly414Asp)
c.758G>A (p.Gly253Asp)
n.921G>A
c.1169G>A (p.Gly390Asp)
c.*949G>A (n.*949G>A)
c.851G>A (p.Gly284Asp)
c.*1131G>A (n.*1131G>A)
c.593G>A (p.Gly198Asp)
n.1308G>A
n.935G>A
c.839G>A
c.1268G>A (p.Gly423Asp)
c.*852G>A (n.*852G>A)
c.1547G>A (p.Gly516Asp)
c.761G>A (p.Gly254Asp)
c.1115G>A (p.Gly372Asp)
c.1028G>A (p.Gly343Asp)
n.1332G>A
n.754G>A
c.1259G>A (p.Gly420Asp)
c.989G>A (p.Gly330Asp)
c.1061G>A (p.Gly354Asp)
c.1232G>A (p.Gly411Asp)
c.1166G>A (p.Gly389Asp)
n.276G>A
c.1238G>A (p.Gly413Asp)
c.1031G>A (p.Gly344Asp)
c.1544G>A (p.Gly515Asp)
c.1235G>A (p.Gly412Asp)
c.1163G>A (p.Gly388Asp)
c.1112G>A (p.Gly371Asp)
c.1025G>A (p.Gly342Asp)
c.848G>A (p.Gly283Asp)
c.1004G>A (p.Gly335Asp)
c.1172G>A (p.Gly391Asp)
18g.55254607delCA2695223150TCF4c.1241del (p.Gly414ValfsTer?)
c.758del (p.Gly253ValfsTer?)
n.921del
c.1169del (p.Gly390ValfsTer?)
c.*949del (n.*949del)
c.851del (p.Gly284ValfsTer?)
c.*1131del (n.*1131del)
c.593del (p.Gly198ValfsTer?)
n.1308del
n.935del
c.839del
c.1268del (p.Gly423ValfsTer?)
c.*852del (n.*852del)
c.1547del (p.Gly516ValfsTer?)
c.761del (p.Gly254ValfsTer?)
c.1115del (p.Gly372ValfsTer?)
c.1028del (p.Gly343ValfsTer?)
n.1332del
n.754del
c.1259del (p.Gly420ValfsTer?)
c.989del (p.Gly330ValfsTer?)
c.1061del (p.Gly354ValfsTer?)
c.1232del (p.Gly411ValfsTer?)
c.1166del (p.Gly389ValfsTer?)
n.276del
c.1238del (p.Gly413ValfsTer?)
c.1031del (p.Gly344ValfsTer?)
c.1544del (p.Gly515ValfsTer?)
c.1235del (p.Gly412ValfsTer?)
c.1163del (p.Gly388ValfsTer?)
c.1112del (p.Gly371ValfsTer?)
c.1025del (p.Gly342ValfsTer?)
c.848del (p.Gly283ValfsTer?)
c.1004del (p.Gly335ValfsTer?)
c.1172del (p.Gly391ValfsTer?)

Number of alleles fetched