Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178559019_178559778delinsCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATCA1310526456TTN,TTN-AS1c.78650_79117+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59735_60202+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59534_60001+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59159_59626+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.86354_86821+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.81431_81898+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
n.447-12281_447-11522delinsCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT
n.2043+16658_2043+17417delinsCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT
c.85451_85918+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59345_59812+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59204_59671+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.85247_85714+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80645_81112+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80642_81109+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.77684_78151+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59300_59767+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80795_81262+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80792_81259+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80225_80692+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.77567_78034+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.77486_77953+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59249_59716+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.49103_49570+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
2g.178559022_178559780delCA891843230TTN,TTN-AS1c.78650_79117+291del
c.59735_60202+291del
c.59534_60001+291del
c.59159_59626+291del
c.86354_86821+291del
c.81431_81898+291del
n.447-12278_447-11520del
n.2043+16661_2043+17419del
c.85451_85918+291del
c.59345_59812+291del
c.59204_59671+291del
c.85247_85714+291del
c.80645_81112+291del
c.80642_81109+291del
c.77684_78151+291del
c.59300_59767+291del
c.80795_81262+291del
c.80792_81259+291del
c.80225_80692+291del
c.77567_78034+291del
c.77486_77953+291del
c.59249_59716+291del
c.49103_49570+291del
 ClinVar dbSNP
2g.178559639C>ACA349543333TTN,TTN-AS1c.78789G>T (p.Leu26263Phe)
c.59874G>T (p.Leu19958Phe)
c.59673G>T (p.Leu19891Phe)
c.59298G>T (p.Leu19766Phe)
c.86493G>T (p.Leu28831Phe)
c.81570G>T (p.Leu27190Phe)
n.447-11661C>A
n.2043+17278C>A
c.85590G>T (p.Leu28530Phe)
c.59484G>T (p.Leu19828Phe)
c.59343G>T (p.Leu19781Phe)
c.85386G>T (p.Leu28462Phe)
c.80784G>T (p.Leu26928Phe)
c.80781G>T (p.Leu26927Phe)
c.77823G>T (p.Leu25941Phe)
c.59439G>T (p.Leu19813Phe)
c.80934G>T (p.Leu26978Phe)
c.80931G>T (p.Leu26977Phe)
c.80364G>T (p.Leu26788Phe)
c.77706G>T (p.Leu25902Phe)
c.77625G>T (p.Leu25875Phe)
c.59388G>T (p.Leu19796Phe)
c.49242G>T (p.Leu16414Phe)
2g.178559639C=CA1310526710TTN,TTN-AS1c.78789G= (p.Leu26263=)
c.59874G= (p.Leu19958=)
c.59673G= (p.Leu19891=)
c.59298G= (p.Leu19766=)
c.86493G= (p.Leu28831=)
c.81570G= (p.Leu27190=)
n.447-11661C=
n.2043+17278C=
c.85590G= (p.Leu28530=)
c.59484G= (p.Leu19828=)
c.59343G= (p.Leu19781=)
c.85386G= (p.Leu28462=)
c.80784G= (p.Leu26928=)
c.80781G= (p.Leu26927=)
c.77823G= (p.Leu25941=)
c.59439G= (p.Leu19813=)
c.80934G= (p.Leu26978=)
c.80931G= (p.Leu26977=)
c.80364G= (p.Leu26788=)
c.77706G= (p.Leu25902=)
c.77625G= (p.Leu25875=)
c.59388G= (p.Leu19796=)
c.49242G= (p.Leu16414=)
2g.178559639C>GCA1988493TTN,TTN-AS1c.78789G>C (p.Leu26263Phe)
c.59874G>C (p.Leu19958Phe)
c.59673G>C (p.Leu19891Phe)
c.59298G>C (p.Leu19766Phe)
c.86493G>C (p.Leu28831Phe)
c.81570G>C (p.Leu27190Phe)
n.447-11661C>G
n.2043+17278C>G
c.85590G>C (p.Leu28530Phe)
c.59484G>C (p.Leu19828Phe)
c.59343G>C (p.Leu19781Phe)
c.85386G>C (p.Leu28462Phe)
c.80784G>C (p.Leu26928Phe)
c.80781G>C (p.Leu26927Phe)
c.77823G>C (p.Leu25941Phe)
c.59439G>C (p.Leu19813Phe)
c.80934G>C (p.Leu26978Phe)
c.80931G>C (p.Leu26977Phe)
c.80364G>C (p.Leu26788Phe)
c.77706G>C (p.Leu25902Phe)
c.77625G>C (p.Leu25875Phe)
c.59388G>C (p.Leu19796Phe)
c.49242G>C (p.Leu16414Phe)
 dbSNP ExAC gnomAD v2
2g.178559639C>TCA430247957TTN,TTN-AS1c.78789G>A (p.Leu26263=)
c.59874G>A (p.Leu19958=)
c.59673G>A (p.Leu19891=)
c.59298G>A (p.Leu19766=)
c.86493G>A (p.Leu28831=)
c.81570G>A (p.Leu27190=)
n.447-11661C>T
n.2043+17278C>T
c.85590G>A (p.Leu28530=)
c.59484G>A (p.Leu19828=)
c.59343G>A (p.Leu19781=)
c.85386G>A (p.Leu28462=)
c.80784G>A (p.Leu26928=)
c.80781G>A (p.Leu26927=)
c.77823G>A (p.Leu25941=)
c.59439G>A (p.Leu19813=)
c.80934G>A (p.Leu26978=)
c.80931G>A (p.Leu26977=)
c.80364G>A (p.Leu26788=)
c.77706G>A (p.Leu25902=)
c.77625G>A (p.Leu25875=)
c.59388G>A (p.Leu19796=)
c.49242G>A (p.Leu16414=)
2g.178559639_178559640delinsCACA1310526711TTN,TTN-AS1c.78788_78789delinsTG (p.Leu26263=)
c.59873_59874delinsTG (p.Leu19958=)
c.59672_59673delinsTG (p.Leu19891=)
c.59297_59298delinsTG (p.Leu19766=)
c.86492_86493delinsTG (p.Leu28831=)
c.81569_81570delinsTG (p.Leu27190=)
n.447-11661_447-11660delinsCA
n.2043+17278_2043+17279delinsCA
c.85589_85590delinsTG (p.Leu28530=)
c.59483_59484delinsTG (p.Leu19828=)
c.59342_59343delinsTG (p.Leu19781=)
c.85385_85386delinsTG (p.Leu28462=)
c.80783_80784delinsTG (p.Leu26928=)
c.80780_80781delinsTG (p.Leu26927=)
c.77822_77823delinsTG (p.Leu25941=)
c.59438_59439delinsTG (p.Leu19813=)
c.80933_80934delinsTG (p.Leu26978=)
c.80930_80931delinsTG (p.Leu26977=)
c.80363_80364delinsTG (p.Leu26788=)
c.77705_77706delinsTG (p.Leu25902=)
c.77624_77625delinsTG (p.Leu25875=)
c.59387_59388delinsTG (p.Leu19796=)
c.49241_49242delinsTG (p.Leu16414=)
2g.178559640A>CCA349543349TTN,TTN-AS1c.78788T>G (p.Leu26263Trp)
c.59873T>G (p.Leu19958Trp)
c.59672T>G (p.Leu19891Trp)
c.59297T>G (p.Leu19766Trp)
c.86492T>G (p.Leu28831Trp)
c.81569T>G (p.Leu27190Trp)
n.447-11660A>C
n.2043+17279A>C
c.85589T>G (p.Leu28530Trp)
c.59483T>G (p.Leu19828Trp)
c.59342T>G (p.Leu19781Trp)
c.85385T>G (p.Leu28462Trp)
c.80783T>G (p.Leu26928Trp)
c.80780T>G (p.Leu26927Trp)
c.77822T>G (p.Leu25941Trp)
c.59438T>G (p.Leu19813Trp)
c.80933T>G (p.Leu26978Trp)
c.80930T>G (p.Leu26977Trp)
c.80363T>G (p.Leu26788Trp)
c.77705T>G (p.Leu25902Trp)
c.77624T>G (p.Leu25875Trp)
c.59387T>G (p.Leu19796Trp)
c.49241T>G (p.Leu16414Trp)
2g.178559640A>GCA349543337TTN,TTN-AS1c.78788T>C (p.Leu26263Ser)
c.59873T>C (p.Leu19958Ser)
c.59672T>C (p.Leu19891Ser)
c.59297T>C (p.Leu19766Ser)
c.86492T>C (p.Leu28831Ser)
c.81569T>C (p.Leu27190Ser)
n.447-11660A>G
n.2043+17279A>G
c.85589T>C (p.Leu28530Ser)
c.59483T>C (p.Leu19828Ser)
c.59342T>C (p.Leu19781Ser)
c.85385T>C (p.Leu28462Ser)
c.80783T>C (p.Leu26928Ser)
c.80780T>C (p.Leu26927Ser)
c.77822T>C (p.Leu25941Ser)
c.59438T>C (p.Leu19813Ser)
c.80933T>C (p.Leu26978Ser)
c.80930T>C (p.Leu26977Ser)
c.80363T>C (p.Leu26788Ser)
c.77705T>C (p.Leu25902Ser)
c.77624T>C (p.Leu25875Ser)
c.59387T>C (p.Leu19796Ser)
c.49241T>C (p.Leu16414Ser)
2g.178559640A>TCA349543367TTN,TTN-AS1c.78788T>A (p.Leu26263Ter)
c.59873T>A (p.Leu19958Ter)
c.59672T>A (p.Leu19891Ter)
c.59297T>A (p.Leu19766Ter)
c.86492T>A (p.Leu28831Ter)
c.81569T>A (p.Leu27190Ter)
n.447-11660A>T
n.2043+17279A>T
c.85589T>A (p.Leu28530Ter)
c.59483T>A (p.Leu19828Ter)
c.59342T>A (p.Leu19781Ter)
c.85385T>A (p.Leu28462Ter)
c.80783T>A (p.Leu26928Ter)
c.80780T>A (p.Leu26927Ter)
c.77822T>A (p.Leu25941Ter)
c.59438T>A (p.Leu19813Ter)
c.80933T>A (p.Leu26978Ter)
c.80930T>A (p.Leu26977Ter)
c.80363T>A (p.Leu26788Ter)
c.77705T>A (p.Leu25902Ter)
c.77624T>A (p.Leu25875Ter)
c.59387T>A (p.Leu19796Ter)
c.49241T>A (p.Leu16414Ter)
2g.178559643delCA1310526712TTN,TTN-AS1c.78788del (p.Leu26263Ter)
c.59873del (p.Leu19958Ter)
c.59672del (p.Leu19891Ter)
c.59297del (p.Leu19766Ter)
c.86492del (p.Leu28831Ter)
c.81569del (p.Leu27190Ter)
n.447-11657del
n.2043+17282del
c.85589del (p.Leu28530Ter)
c.59483del (p.Leu19828Ter)
c.59342del (p.Leu19781Ter)
c.85385del (p.Leu28462Ter)
c.80783del (p.Leu26928Ter)
c.80780del (p.Leu26927Ter)
c.77822del (p.Leu25941Ter)
c.59438del (p.Leu19813Ter)
c.80933del (p.Leu26978Ter)
c.80930del (p.Leu26977Ter)
c.80363del (p.Leu26788Ter)
c.77705del (p.Leu25902Ter)
c.77624del (p.Leu25875Ter)
c.59387del (p.Leu19796Ter)
c.49241del (p.Leu16414Ter)
 dbSNP
2g.178559641A=CA1310526713TTN,TTN-AS1c.78787T= (p.Leu26263=)
c.59872T= (p.Leu19958=)
c.59671T= (p.Leu19891=)
c.59296T= (p.Leu19766=)
c.86491T= (p.Leu28831=)
c.81568T= (p.Leu27190=)
n.447-11659A=
n.2043+17280A=
c.85588T= (p.Leu28530=)
c.59482T= (p.Leu19828=)
c.59341T= (p.Leu19781=)
c.85384T= (p.Leu28462=)
c.80782T= (p.Leu26928=)
c.80779T= (p.Leu26927=)
c.77821T= (p.Leu25941=)
c.59437T= (p.Leu19813=)
c.80932T= (p.Leu26978=)
c.80929T= (p.Leu26977=)
c.80362T= (p.Leu26788=)
c.77704T= (p.Leu25902=)
c.77623T= (p.Leu25875=)
c.59386T= (p.Leu19796=)
c.49240T= (p.Leu16414=)
2g.178559641A>CCA349543377TTN,TTN-AS1c.78787T>G (p.Leu26263Val)
c.59872T>G (p.Leu19958Val)
c.59671T>G (p.Leu19891Val)
c.59296T>G (p.Leu19766Val)
c.86491T>G (p.Leu28831Val)
c.81568T>G (p.Leu27190Val)
n.447-11659A>C
n.2043+17280A>C
c.85588T>G (p.Leu28530Val)
c.59482T>G (p.Leu19828Val)
c.59341T>G (p.Leu19781Val)
c.85384T>G (p.Leu28462Val)
c.80782T>G (p.Leu26928Val)
c.80779T>G (p.Leu26927Val)
c.77821T>G (p.Leu25941Val)
c.59437T>G (p.Leu19813Val)
c.80932T>G (p.Leu26978Val)
c.80929T>G (p.Leu26977Val)
c.80362T>G (p.Leu26788Val)
c.77704T>G (p.Leu25902Val)
c.77623T>G (p.Leu25875Val)
c.59386T>G (p.Leu19796Val)
c.49240T>G (p.Leu16414Val)
2g.178559641A>GCA430247959TTN,TTN-AS1c.78787T>C (p.Leu26263=)
c.59872T>C (p.Leu19958=)
c.59671T>C (p.Leu19891=)
c.59296T>C (p.Leu19766=)
c.86491T>C (p.Leu28831=)
c.81568T>C (p.Leu27190=)
n.447-11659A>G
n.2043+17280A>G
c.85588T>C (p.Leu28530=)
c.59482T>C (p.Leu19828=)
c.59341T>C (p.Leu19781=)
c.85384T>C (p.Leu28462=)
c.80782T>C (p.Leu26928=)
c.80779T>C (p.Leu26927=)
c.77821T>C (p.Leu25941=)
c.59437T>C (p.Leu19813=)
c.80932T>C (p.Leu26978=)
c.80929T>C (p.Leu26977=)
c.80362T>C (p.Leu26788=)
c.77704T>C (p.Leu25902=)
c.77623T>C (p.Leu25875=)
c.59386T>C (p.Leu19796=)
c.49240T>C (p.Leu16414=)
 dbSNP gnomAD v2
2g.178559641A>TCA349543381TTN,TTN-AS1c.78787T>A (p.Leu26263Met)
c.59872T>A (p.Leu19958Met)
c.59671T>A (p.Leu19891Met)
c.59296T>A (p.Leu19766Met)
c.86491T>A (p.Leu28831Met)
c.81568T>A (p.Leu27190Met)
n.447-11659A>T
n.2043+17280A>T
c.85588T>A (p.Leu28530Met)
c.59482T>A (p.Leu19828Met)
c.59341T>A (p.Leu19781Met)
c.85384T>A (p.Leu28462Met)
c.80782T>A (p.Leu26928Met)
c.80779T>A (p.Leu26927Met)
c.77821T>A (p.Leu25941Met)
c.59437T>A (p.Leu19813Met)
c.80932T>A (p.Leu26978Met)
c.80929T>A (p.Leu26977Met)
c.80362T>A (p.Leu26788Met)
c.77704T>A (p.Leu25902Met)
c.77623T>A (p.Leu25875Met)
c.59386T>A (p.Leu19796Met)
c.49240T>A (p.Leu16414Met)
2g.178559642A>CCA430247964TTN,TTN-AS1c.78786T>G (p.Val26262=)
c.59871T>G (p.Val19957=)
c.59670T>G (p.Val19890=)
c.59295T>G (p.Val19765=)
c.86490T>G (p.Val28830=)
c.81567T>G (p.Val27189=)
n.447-11658A>C
n.2043+17281A>C
c.85587T>G (p.Val28529=)
c.59481T>G (p.Val19827=)
c.59340T>G (p.Val19780=)
c.85383T>G (p.Val28461=)
c.80781T>G (p.Val26927=)
c.80778T>G (p.Val26926=)
c.77820T>G (p.Val25940=)
c.59436T>G (p.Val19812=)
c.80931T>G (p.Val26977=)
c.80928T>G (p.Val26976=)
c.80361T>G (p.Val26787=)
c.77703T>G (p.Val25901=)
c.77622T>G (p.Val25874=)
c.59385T>G (p.Val19795=)
c.49239T>G (p.Val16413=)
2g.178559642A>GCA430247962TTN,TTN-AS1c.78786T>C (p.Val26262=)
c.59871T>C (p.Val19957=)
c.59670T>C (p.Val19890=)
c.59295T>C (p.Val19765=)
c.86490T>C (p.Val28830=)
c.81567T>C (p.Val27189=)
n.447-11658A>G
n.2043+17281A>G
c.85587T>C (p.Val28529=)
c.59481T>C (p.Val19827=)
c.59340T>C (p.Val19780=)
c.85383T>C (p.Val28461=)
c.80781T>C (p.Val26927=)
c.80778T>C (p.Val26926=)
c.77820T>C (p.Val25940=)
c.59436T>C (p.Val19812=)
c.80931T>C (p.Val26977=)
c.80928T>C (p.Val26976=)
c.80361T>C (p.Val26787=)
c.77703T>C (p.Val25901=)
c.77622T>C (p.Val25874=)
c.59385T>C (p.Val19795=)
c.49239T>C (p.Val16413=)
 gnomAD v4
2g.178559642A>TCA430247960TTN,TTN-AS1c.78786T>A (p.Val26262=)
c.59871T>A (p.Val19957=)
c.59670T>A (p.Val19890=)
c.59295T>A (p.Val19765=)
c.86490T>A (p.Val28830=)
c.81567T>A (p.Val27189=)
n.447-11658A>T
n.2043+17281A>T
c.85587T>A (p.Val28529=)
c.59481T>A (p.Val19827=)
c.59340T>A (p.Val19780=)
c.85383T>A (p.Val28461=)
c.80781T>A (p.Val26927=)
c.80778T>A (p.Val26926=)
c.77820T>A (p.Val25940=)
c.59436T>A (p.Val19812=)
c.80931T>A (p.Val26977=)
c.80928T>A (p.Val26976=)
c.80361T>A (p.Val26787=)
c.77703T>A (p.Val25901=)
c.77622T>A (p.Val25874=)
c.59385T>A (p.Val19795=)
c.49239T>A (p.Val16413=)
2g.178559643A>CCA349543387TTN,TTN-AS1c.78785T>G (p.Val26262Gly)
c.59870T>G (p.Val19957Gly)
c.59669T>G (p.Val19890Gly)
c.59294T>G (p.Val19765Gly)
c.86489T>G (p.Val28830Gly)
c.81566T>G (p.Val27189Gly)
n.447-11657A>C
n.2043+17282A>C
c.85586T>G (p.Val28529Gly)
c.59480T>G (p.Val19827Gly)
c.59339T>G (p.Val19780Gly)
c.85382T>G (p.Val28461Gly)
c.80780T>G (p.Val26927Gly)
c.80777T>G (p.Val26926Gly)
c.77819T>G (p.Val25940Gly)
c.59435T>G (p.Val19812Gly)
c.80930T>G (p.Val26977Gly)
c.80927T>G (p.Val26976Gly)
c.80360T>G (p.Val26787Gly)
c.77702T>G (p.Val25901Gly)
c.77621T>G (p.Val25874Gly)
c.59384T>G (p.Val19795Gly)
c.49238T>G (p.Val16413Gly)
2g.178559643A>GCA349543388TTN,TTN-AS1c.78785T>C (p.Val26262Ala)
c.59870T>C (p.Val19957Ala)
c.59669T>C (p.Val19890Ala)
c.59294T>C (p.Val19765Ala)
c.86489T>C (p.Val28830Ala)
c.81566T>C (p.Val27189Ala)
n.447-11657A>G
n.2043+17282A>G
c.85586T>C (p.Val28529Ala)
c.59480T>C (p.Val19827Ala)
c.59339T>C (p.Val19780Ala)
c.85382T>C (p.Val28461Ala)
c.80780T>C (p.Val26927Ala)
c.80777T>C (p.Val26926Ala)
c.77819T>C (p.Val25940Ala)
c.59435T>C (p.Val19812Ala)
c.80930T>C (p.Val26977Ala)
c.80927T>C (p.Val26976Ala)
c.80360T>C (p.Val26787Ala)
c.77702T>C (p.Val25901Ala)
c.77621T>C (p.Val25874Ala)
c.59384T>C (p.Val19795Ala)
c.49238T>C (p.Val16413Ala)
 gnomAD v4
2g.178559643A>TCA349543392TTN,TTN-AS1c.78785T>A (p.Val26262Asp)
c.59870T>A (p.Val19957Asp)
c.59669T>A (p.Val19890Asp)
c.59294T>A (p.Val19765Asp)
c.86489T>A (p.Val28830Asp)
c.81566T>A (p.Val27189Asp)
n.447-11657A>T
n.2043+17282A>T
c.85586T>A (p.Val28529Asp)
c.59480T>A (p.Val19827Asp)
c.59339T>A (p.Val19780Asp)
c.85382T>A (p.Val28461Asp)
c.80780T>A (p.Val26927Asp)
c.80777T>A (p.Val26926Asp)
c.77819T>A (p.Val25940Asp)
c.59435T>A (p.Val19812Asp)
c.80930T>A (p.Val26977Asp)
c.80927T>A (p.Val26976Asp)
c.80360T>A (p.Val26787Asp)
c.77702T>A (p.Val25901Asp)
c.77621T>A (p.Val25874Asp)
c.59384T>A (p.Val19795Asp)
c.49238T>A (p.Val16413Asp)
2g.178559644C>ACA349543396TTN,TTN-AS1c.78784G>T (p.Val26262Phe)
c.59869G>T (p.Val19957Phe)
c.59668G>T (p.Val19890Phe)
c.59293G>T (p.Val19765Phe)
c.86488G>T (p.Val28830Phe)
c.81565G>T (p.Val27189Phe)
n.447-11656C>A
n.2043+17283C>A
c.85585G>T (p.Val28529Phe)
c.59479G>T (p.Val19827Phe)
c.59338G>T (p.Val19780Phe)
c.85381G>T (p.Val28461Phe)
c.80779G>T (p.Val26927Phe)
c.80776G>T (p.Val26926Phe)
c.77818G>T (p.Val25940Phe)
c.59434G>T (p.Val19812Phe)
c.80929G>T (p.Val26977Phe)
c.80926G>T (p.Val26976Phe)
c.80359G>T (p.Val26787Phe)
c.77701G>T (p.Val25901Phe)
c.77620G>T (p.Val25874Phe)
c.59383G>T (p.Val19795Phe)
c.49237G>T (p.Val16413Phe)
2g.178559644C>GCA349543398TTN,TTN-AS1c.78784G>C (p.Val26262Leu)
c.59869G>C (p.Val19957Leu)
c.59668G>C (p.Val19890Leu)
c.59293G>C (p.Val19765Leu)
c.86488G>C (p.Val28830Leu)
c.81565G>C (p.Val27189Leu)
n.447-11656C>G
n.2043+17283C>G
c.85585G>C (p.Val28529Leu)
c.59479G>C (p.Val19827Leu)
c.59338G>C (p.Val19780Leu)
c.85381G>C (p.Val28461Leu)
c.80779G>C (p.Val26927Leu)
c.80776G>C (p.Val26926Leu)
c.77818G>C (p.Val25940Leu)
c.59434G>C (p.Val19812Leu)
c.80929G>C (p.Val26977Leu)
c.80926G>C (p.Val26976Leu)
c.80359G>C (p.Val26787Leu)
c.77701G>C (p.Val25901Leu)
c.77620G>C (p.Val25874Leu)
c.59383G>C (p.Val19795Leu)
c.49237G>C (p.Val16413Leu)
2g.178559644C>TCA349543403TTN,TTN-AS1c.78784G>A (p.Val26262Ile)
c.59869G>A (p.Val19957Ile)
c.59668G>A (p.Val19890Ile)
c.59293G>A (p.Val19765Ile)
c.86488G>A (p.Val28830Ile)
c.81565G>A (p.Val27189Ile)
n.447-11656C>T
n.2043+17283C>T
c.85585G>A (p.Val28529Ile)
c.59479G>A (p.Val19827Ile)
c.59338G>A (p.Val19780Ile)
c.85381G>A (p.Val28461Ile)
c.80779G>A (p.Val26927Ile)
c.80776G>A (p.Val26926Ile)
c.77818G>A (p.Val25940Ile)
c.59434G>A (p.Val19812Ile)
c.80929G>A (p.Val26977Ile)
c.80926G>A (p.Val26976Ile)
c.80359G>A (p.Val26787Ile)
c.77701G>A (p.Val25901Ile)
c.77620G>A (p.Val25874Ile)
c.59383G>A (p.Val19795Ile)
c.49237G>A (p.Val16413Ile)
 gnomAD v4
2g.178559645A>CCA349543409TTN,TTN-AS1c.78783T>G (p.Asn26261Lys)
c.59868T>G (p.Asn19956Lys)
c.59667T>G (p.Asn19889Lys)
c.59292T>G (p.Asn19764Lys)
c.86487T>G (p.Asn28829Lys)
c.81564T>G (p.Asn27188Lys)
n.447-11655A>C
n.2043+17284A>C
c.85584T>G (p.Asn28528Lys)
c.59478T>G (p.Asn19826Lys)
c.59337T>G (p.Asn19779Lys)
c.85380T>G (p.Asn28460Lys)
c.80778T>G (p.Asn26926Lys)
c.80775T>G (p.Asn26925Lys)
c.77817T>G (p.Asn25939Lys)
c.59433T>G (p.Asn19811Lys)
c.80928T>G (p.Asn26976Lys)
c.80925T>G (p.Asn26975Lys)
c.80358T>G (p.Asn26786Lys)
c.77700T>G (p.Asn25900Lys)
c.77619T>G (p.Asn25873Lys)
c.59382T>G (p.Asn19794Lys)
c.49236T>G (p.Asn16412Lys)
2g.178559645A>GCA430247967TTN,TTN-AS1c.78783T>C (p.Asn26261=)
c.59868T>C (p.Asn19956=)
c.59667T>C (p.Asn19889=)
c.59292T>C (p.Asn19764=)
c.86487T>C (p.Asn28829=)
c.81564T>C (p.Asn27188=)
n.447-11655A>G
n.2043+17284A>G
c.85584T>C (p.Asn28528=)
c.59478T>C (p.Asn19826=)
c.59337T>C (p.Asn19779=)
c.85380T>C (p.Asn28460=)
c.80778T>C (p.Asn26926=)
c.80775T>C (p.Asn26925=)
c.77817T>C (p.Asn25939=)
c.59433T>C (p.Asn19811=)
c.80928T>C (p.Asn26976=)
c.80925T>C (p.Asn26975=)
c.80358T>C (p.Asn26786=)
c.77700T>C (p.Asn25900=)
c.77619T>C (p.Asn25873=)
c.59382T>C (p.Asn19794=)
c.49236T>C (p.Asn16412=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178559645A>TCA349543410TTN,TTN-AS1c.78783T>A (p.Asn26261Lys)
c.59868T>A (p.Asn19956Lys)
c.59667T>A (p.Asn19889Lys)
c.59292T>A (p.Asn19764Lys)
c.86487T>A (p.Asn28829Lys)
c.81564T>A (p.Asn27188Lys)
n.447-11655A>T
n.2043+17284A>T
c.85584T>A (p.Asn28528Lys)
c.59478T>A (p.Asn19826Lys)
c.59337T>A (p.Asn19779Lys)
c.85380T>A (p.Asn28460Lys)
c.80778T>A (p.Asn26926Lys)
c.80775T>A (p.Asn26925Lys)
c.77817T>A (p.Asn25939Lys)
c.59433T>A (p.Asn19811Lys)
c.80928T>A (p.Asn26976Lys)
c.80925T>A (p.Asn26975Lys)
c.80358T>A (p.Asn26786Lys)
c.77700T>A (p.Asn25900Lys)
c.77619T>A (p.Asn25873Lys)
c.59382T>A (p.Asn19794Lys)
c.49236T>A (p.Asn16412Lys)
2g.178559646T>ACA349543425TTN,TTN-AS1c.78782A>T (p.Asn26261Ile)
c.59867A>T (p.Asn19956Ile)
c.59666A>T (p.Asn19889Ile)
c.59291A>T (p.Asn19764Ile)
c.86486A>T (p.Asn28829Ile)
c.81563A>T (p.Asn27188Ile)
n.447-11654T>A
n.2043+17285T>A
c.85583A>T (p.Asn28528Ile)
c.59477A>T (p.Asn19826Ile)
c.59336A>T (p.Asn19779Ile)
c.85379A>T (p.Asn28460Ile)
c.80777A>T (p.Asn26926Ile)
c.80774A>T (p.Asn26925Ile)
c.77816A>T (p.Asn25939Ile)
c.59432A>T (p.Asn19811Ile)
c.80927A>T (p.Asn26976Ile)
c.80924A>T (p.Asn26975Ile)
c.80357A>T (p.Asn26786Ile)
c.77699A>T (p.Asn25900Ile)
c.77618A>T (p.Asn25873Ile)
c.59381A>T (p.Asn19794Ile)
c.49235A>T (p.Asn16412Ile)
2g.178559646T>CCA349543416TTN,TTN-AS1c.78782A>G (p.Asn26261Ser)
c.59867A>G (p.Asn19956Ser)
c.59666A>G (p.Asn19889Ser)
c.59291A>G (p.Asn19764Ser)
c.86486A>G (p.Asn28829Ser)
c.81563A>G (p.Asn27188Ser)
n.447-11654T>C
n.2043+17285T>C
c.85583A>G (p.Asn28528Ser)
c.59477A>G (p.Asn19826Ser)
c.59336A>G (p.Asn19779Ser)
c.85379A>G (p.Asn28460Ser)
c.80777A>G (p.Asn26926Ser)
c.80774A>G (p.Asn26925Ser)
c.77816A>G (p.Asn25939Ser)
c.59432A>G (p.Asn19811Ser)
c.80927A>G (p.Asn26976Ser)
c.80924A>G (p.Asn26975Ser)
c.80357A>G (p.Asn26786Ser)
c.77699A>G (p.Asn25900Ser)
c.77618A>G (p.Asn25873Ser)
c.59381A>G (p.Asn19794Ser)
c.49235A>G (p.Asn16412Ser)
2g.178559646T>GCA349543413TTN,TTN-AS1c.78782A>C (p.Asn26261Thr)
c.59867A>C (p.Asn19956Thr)
c.59666A>C (p.Asn19889Thr)
c.59291A>C (p.Asn19764Thr)
c.86486A>C (p.Asn28829Thr)
c.81563A>C (p.Asn27188Thr)
n.447-11654T>G
n.2043+17285T>G
c.85583A>C (p.Asn28528Thr)
c.59477A>C (p.Asn19826Thr)
c.59336A>C (p.Asn19779Thr)
c.85379A>C (p.Asn28460Thr)
c.80777A>C (p.Asn26926Thr)
c.80774A>C (p.Asn26925Thr)
c.77816A>C (p.Asn25939Thr)
c.59432A>C (p.Asn19811Thr)
c.80927A>C (p.Asn26976Thr)
c.80924A>C (p.Asn26975Thr)
c.80357A>C (p.Asn26786Thr)
c.77699A>C (p.Asn25900Thr)
c.77618A>C (p.Asn25873Thr)
c.59381A>C (p.Asn19794Thr)
c.49235A>C (p.Asn16412Thr)
2g.178559647T>ACA349543429TTN,TTN-AS1c.78781A>T (p.Asn26261Tyr)
c.59866A>T (p.Asn19956Tyr)
c.59665A>T (p.Asn19889Tyr)
c.59290A>T (p.Asn19764Tyr)
c.86485A>T (p.Asn28829Tyr)
c.81562A>T (p.Asn27188Tyr)
n.447-11653T>A
n.2043+17286T>A
c.85582A>T (p.Asn28528Tyr)
c.59476A>T (p.Asn19826Tyr)
c.59335A>T (p.Asn19779Tyr)
c.85378A>T (p.Asn28460Tyr)
c.80776A>T (p.Asn26926Tyr)
c.80773A>T (p.Asn26925Tyr)
c.77815A>T (p.Asn25939Tyr)
c.59431A>T (p.Asn19811Tyr)
c.80926A>T (p.Asn26976Tyr)
c.80923A>T (p.Asn26975Tyr)
c.80356A>T (p.Asn26786Tyr)
c.77698A>T (p.Asn25900Tyr)
c.77617A>T (p.Asn25873Tyr)
c.59380A>T (p.Asn19794Tyr)
c.49234A>T (p.Asn16412Tyr)
2g.178559647T>CCA1988494TTN,TTN-AS1c.78781A>G (p.Asn26261Asp)
c.59866A>G (p.Asn19956Asp)
c.59665A>G (p.Asn19889Asp)
c.59290A>G (p.Asn19764Asp)
c.86485A>G (p.Asn28829Asp)
c.81562A>G (p.Asn27188Asp)
n.447-11653T>C
n.2043+17286T>C
c.85582A>G (p.Asn28528Asp)
c.59476A>G (p.Asn19826Asp)
c.59335A>G (p.Asn19779Asp)
c.85378A>G (p.Asn28460Asp)
c.80776A>G (p.Asn26926Asp)
c.80773A>G (p.Asn26925Asp)
c.77815A>G (p.Asn25939Asp)
c.59431A>G (p.Asn19811Asp)
c.80926A>G (p.Asn26976Asp)
c.80923A>G (p.Asn26975Asp)
c.80356A>G (p.Asn26786Asp)
c.77698A>G (p.Asn25900Asp)
c.77617A>G (p.Asn25873Asp)
c.59380A>G (p.Asn19794Asp)
c.49234A>G (p.Asn16412Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.178559647T>GCA349543432TTN,TTN-AS1c.78781A>C (p.Asn26261His)
c.59866A>C (p.Asn19956His)
c.59665A>C (p.Asn19889His)
c.59290A>C (p.Asn19764His)
c.86485A>C (p.Asn28829His)
c.81562A>C (p.Asn27188His)
n.447-11653T>G
n.2043+17286T>G
c.85582A>C (p.Asn28528His)
c.59476A>C (p.Asn19826His)
c.59335A>C (p.Asn19779His)
c.85378A>C (p.Asn28460His)
c.80776A>C (p.Asn26926His)
c.80773A>C (p.Asn26925His)
c.77815A>C (p.Asn25939His)
c.59431A>C (p.Asn19811His)
c.80926A>C (p.Asn26976His)
c.80923A>C (p.Asn26975His)
c.80356A>C (p.Asn26786His)
c.77698A>C (p.Asn25900His)
c.77617A>C (p.Asn25873His)
c.59380A>C (p.Asn19794His)
c.49234A>C (p.Asn16412His)
 gnomAD v4
2g.178559647T=CA1310526714TTN,TTN-AS1c.78781A= (p.Asn26261=)
c.59866A= (p.Asn19956=)
c.59665A= (p.Asn19889=)
c.59290A= (p.Asn19764=)
c.86485A= (p.Asn28829=)
c.81562A= (p.Asn27188=)
n.447-11653T=
n.2043+17286T=
c.85582A= (p.Asn28528=)
c.59476A= (p.Asn19826=)
c.59335A= (p.Asn19779=)
c.85378A= (p.Asn28460=)
c.80776A= (p.Asn26926=)
c.80773A= (p.Asn26925=)
c.77815A= (p.Asn25939=)
c.59431A= (p.Asn19811=)
c.80926A= (p.Asn26976=)
c.80923A= (p.Asn26975=)
c.80356A= (p.Asn26786=)
c.77698A= (p.Asn25900=)
c.77617A= (p.Asn25873=)
c.59380A= (p.Asn19794=)
c.49234A= (p.Asn16412=)
2g.178559648C>ACA349543434TTN,TTN-AS1c.78780G>T (p.Gln26260His)
c.59865G>T (p.Gln19955His)
c.59664G>T (p.Gln19888His)
c.59289G>T (p.Gln19763His)
c.86484G>T (p.Gln28828His)
c.81561G>T (p.Gln27187His)
n.447-11652C>A
n.2043+17287C>A
c.85581G>T (p.Gln28527His)
c.59475G>T (p.Gln19825His)
c.59334G>T (p.Gln19778His)
c.85377G>T (p.Gln28459His)
c.80775G>T (p.Gln26925His)
c.80772G>T (p.Gln26924His)
c.77814G>T (p.Gln25938His)
c.59430G>T (p.Gln19810His)
c.80925G>T (p.Gln26975His)
c.80922G>T (p.Gln26974His)
c.80355G>T (p.Gln26785His)
c.77697G>T (p.Gln25899His)
c.77616G>T (p.Gln25872His)
c.59379G>T (p.Gln19793His)
c.49233G>T (p.Gln16411His)
2g.178559648C>GCA349543437TTN,TTN-AS1c.78780G>C (p.Gln26260His)
c.59865G>C (p.Gln19955His)
c.59664G>C (p.Gln19888His)
c.59289G>C (p.Gln19763His)
c.86484G>C (p.Gln28828His)
c.81561G>C (p.Gln27187His)
n.447-11652C>G
n.2043+17287C>G
c.85581G>C (p.Gln28527His)
c.59475G>C (p.Gln19825His)
c.59334G>C (p.Gln19778His)
c.85377G>C (p.Gln28459His)
c.80775G>C (p.Gln26925His)
c.80772G>C (p.Gln26924His)
c.77814G>C (p.Gln25938His)
c.59430G>C (p.Gln19810His)
c.80925G>C (p.Gln26975His)
c.80922G>C (p.Gln26974His)
c.80355G>C (p.Gln26785His)
c.77697G>C (p.Gln25899His)
c.77616G>C (p.Gln25872His)
c.59379G>C (p.Gln19793His)
c.49233G>C (p.Gln16411His)
2g.178559648C>TCA430247973TTN,TTN-AS1c.78780G>A (p.Gln26260=)
c.59865G>A (p.Gln19955=)
c.59664G>A (p.Gln19888=)
c.59289G>A (p.Gln19763=)
c.86484G>A (p.Gln28828=)
c.81561G>A (p.Gln27187=)
n.447-11652C>T
n.2043+17287C>T
c.85581G>A (p.Gln28527=)
c.59475G>A (p.Gln19825=)
c.59334G>A (p.Gln19778=)
c.85377G>A (p.Gln28459=)
c.80775G>A (p.Gln26925=)
c.80772G>A (p.Gln26924=)
c.77814G>A (p.Gln25938=)
c.59430G>A (p.Gln19810=)
c.80925G>A (p.Gln26975=)
c.80922G>A (p.Gln26974=)
c.80355G>A (p.Gln26785=)
c.77697G>A (p.Gln25899=)
c.77616G>A (p.Gln25872=)
c.59379G>A (p.Gln19793=)
c.49233G>A (p.Gln16411=)
 COSMIC COSMIC COSMIC COSMIC
2g.178559649T>ACA349543442TTN,TTN-AS1c.78779A>T (p.Gln26260Leu)
c.59864A>T (p.Gln19955Leu)
c.59663A>T (p.Gln19888Leu)
c.59288A>T (p.Gln19763Leu)
c.86483A>T (p.Gln28828Leu)
c.81560A>T (p.Gln27187Leu)
n.447-11651T>A
n.2043+17288T>A
c.85580A>T (p.Gln28527Leu)
c.59474A>T (p.Gln19825Leu)
c.59333A>T (p.Gln19778Leu)
c.85376A>T (p.Gln28459Leu)
c.80774A>T (p.Gln26925Leu)
c.80771A>T (p.Gln26924Leu)
c.77813A>T (p.Gln25938Leu)
c.59429A>T (p.Gln19810Leu)
c.80924A>T (p.Gln26975Leu)
c.80921A>T (p.Gln26974Leu)
c.80354A>T (p.Gln26785Leu)
c.77696A>T (p.Gln25899Leu)
c.77615A>T (p.Gln25872Leu)
c.59378A>T (p.Gln19793Leu)
c.49232A>T (p.Gln16411Leu)
2g.178559649T>CCA349543443TTN,TTN-AS1c.78779A>G (p.Gln26260Arg)
c.59864A>G (p.Gln19955Arg)
c.59663A>G (p.Gln19888Arg)
c.59288A>G (p.Gln19763Arg)
c.86483A>G (p.Gln28828Arg)
c.81560A>G (p.Gln27187Arg)
n.447-11651T>C
n.2043+17288T>C
c.85580A>G (p.Gln28527Arg)
c.59474A>G (p.Gln19825Arg)
c.59333A>G (p.Gln19778Arg)
c.85376A>G (p.Gln28459Arg)
c.80774A>G (p.Gln26925Arg)
c.80771A>G (p.Gln26924Arg)
c.77813A>G (p.Gln25938Arg)
c.59429A>G (p.Gln19810Arg)
c.80924A>G (p.Gln26975Arg)
c.80921A>G (p.Gln26974Arg)
c.80354A>G (p.Gln26785Arg)
c.77696A>G (p.Gln25899Arg)
c.77615A>G (p.Gln25872Arg)
c.59378A>G (p.Gln19793Arg)
c.49232A>G (p.Gln16411Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178559649T>GCA349543445TTN,TTN-AS1c.78779A>C (p.Gln26260Pro)
c.59864A>C (p.Gln19955Pro)
c.59663A>C (p.Gln19888Pro)
c.59288A>C (p.Gln19763Pro)
c.86483A>C (p.Gln28828Pro)
c.81560A>C (p.Gln27187Pro)
n.447-11651T>G
n.2043+17288T>G
c.85580A>C (p.Gln28527Pro)
c.59474A>C (p.Gln19825Pro)
c.59333A>C (p.Gln19778Pro)
c.85376A>C (p.Gln28459Pro)
c.80774A>C (p.Gln26925Pro)
c.80771A>C (p.Gln26924Pro)
c.77813A>C (p.Gln25938Pro)
c.59429A>C (p.Gln19810Pro)
c.80924A>C (p.Gln26975Pro)
c.80921A>C (p.Gln26974Pro)
c.80354A>C (p.Gln26785Pro)
c.77696A>C (p.Gln25899Pro)
c.77615A>C (p.Gln25872Pro)
c.59378A>C (p.Gln19793Pro)
c.49232A>C (p.Gln16411Pro)
2g.178559649T=CA1310526715TTN,TTN-AS1c.78779A= (p.Gln26260=)
c.59864A= (p.Gln19955=)
c.59663A= (p.Gln19888=)
c.59288A= (p.Gln19763=)
c.86483A= (p.Gln28828=)
c.81560A= (p.Gln27187=)
n.447-11651T=
n.2043+17288T=
c.85580A= (p.Gln28527=)
c.59474A= (p.Gln19825=)
c.59333A= (p.Gln19778=)
c.85376A= (p.Gln28459=)
c.80774A= (p.Gln26925=)
c.80771A= (p.Gln26924=)
c.77813A= (p.Gln25938=)
c.59429A= (p.Gln19810=)
c.80924A= (p.Gln26975=)
c.80921A= (p.Gln26974=)
c.80354A= (p.Gln26785=)
c.77696A= (p.Gln25899=)
c.77615A= (p.Gln25872=)
c.59378A= (p.Gln19793=)
c.49232A= (p.Gln16411=)
2g.178559650G>ACA349543449TTN,TTN-AS1c.78778C>T (p.Gln26260Ter)
c.59863C>T (p.Gln19955Ter)
c.59662C>T (p.Gln19888Ter)
c.59287C>T (p.Gln19763Ter)
c.86482C>T (p.Gln28828Ter)
c.81559C>T (p.Gln27187Ter)
n.447-11650G>A
n.2043+17289G>A
c.85579C>T (p.Gln28527Ter)
c.59473C>T (p.Gln19825Ter)
c.59332C>T (p.Gln19778Ter)
c.85375C>T (p.Gln28459Ter)
c.80773C>T (p.Gln26925Ter)
c.80770C>T (p.Gln26924Ter)
c.77812C>T (p.Gln25938Ter)
c.59428C>T (p.Gln19810Ter)
c.80923C>T (p.Gln26975Ter)
c.80920C>T (p.Gln26974Ter)
c.80353C>T (p.Gln26785Ter)
c.77695C>T (p.Gln25899Ter)
c.77614C>T (p.Gln25872Ter)
c.59377C>T (p.Gln19793Ter)
c.49231C>T (p.Gln16411Ter)
2g.178559650G>CCA349543452TTN,TTN-AS1c.78778C>G (p.Gln26260Glu)
c.59863C>G (p.Gln19955Glu)
c.59662C>G (p.Gln19888Glu)
c.59287C>G (p.Gln19763Glu)
c.86482C>G (p.Gln28828Glu)
c.81559C>G (p.Gln27187Glu)
n.447-11650G>C
n.2043+17289G>C
c.85579C>G (p.Gln28527Glu)
c.59473C>G (p.Gln19825Glu)
c.59332C>G (p.Gln19778Glu)
c.85375C>G (p.Gln28459Glu)
c.80773C>G (p.Gln26925Glu)
c.80770C>G (p.Gln26924Glu)
c.77812C>G (p.Gln25938Glu)
c.59428C>G (p.Gln19810Glu)
c.80923C>G (p.Gln26975Glu)
c.80920C>G (p.Gln26974Glu)
c.80353C>G (p.Gln26785Glu)
c.77695C>G (p.Gln25899Glu)
c.77614C>G (p.Gln25872Glu)
c.59377C>G (p.Gln19793Glu)
c.49231C>G (p.Gln16411Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.178559650G=CA1310526716TTN,TTN-AS1c.78778C= (p.Gln26260=)
c.59863C= (p.Gln19955=)
c.59662C= (p.Gln19888=)
c.59287C= (p.Gln19763=)
c.86482C= (p.Gln28828=)
c.81559C= (p.Gln27187=)
n.447-11650G=
n.2043+17289G=
c.85579C= (p.Gln28527=)
c.59473C= (p.Gln19825=)
c.59332C= (p.Gln19778=)
c.85375C= (p.Gln28459=)
c.80773C= (p.Gln26925=)
c.80770C= (p.Gln26924=)
c.77812C= (p.Gln25938=)
c.59428C= (p.Gln19810=)
c.80923C= (p.Gln26975=)
c.80920C= (p.Gln26974=)
c.80353C= (p.Gln26785=)
c.77695C= (p.Gln25899=)
c.77614C= (p.Gln25872=)
c.59377C= (p.Gln19793=)
c.49231C= (p.Gln16411=)
2g.178559650G>TCA349543455TTN,TTN-AS1c.78778C>A (p.Gln26260Lys)
c.59863C>A (p.Gln19955Lys)
c.59662C>A (p.Gln19888Lys)
c.59287C>A (p.Gln19763Lys)
c.86482C>A (p.Gln28828Lys)
c.81559C>A (p.Gln27187Lys)
n.447-11650G>T
n.2043+17289G>T
c.85579C>A (p.Gln28527Lys)
c.59473C>A (p.Gln19825Lys)
c.59332C>A (p.Gln19778Lys)
c.85375C>A (p.Gln28459Lys)
c.80773C>A (p.Gln26925Lys)
c.80770C>A (p.Gln26924Lys)
c.77812C>A (p.Gln25938Lys)
c.59428C>A (p.Gln19810Lys)
c.80923C>A (p.Gln26975Lys)
c.80920C>A (p.Gln26974Lys)
c.80353C>A (p.Gln26785Lys)
c.77695C>A (p.Gln25899Lys)
c.77614C>A (p.Gln25872Lys)
c.59377C>A (p.Gln19793Lys)
c.49231C>A (p.Gln16411Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178559651A>CCA349543458TTN,TTN-AS1c.78777T>G (p.Ile26259Met)
c.59862T>G (p.Ile19954Met)
c.59661T>G (p.Ile19887Met)
c.59286T>G (p.Ile19762Met)
c.86481T>G (p.Ile28827Met)
c.81558T>G (p.Ile27186Met)
n.447-11649A>C
n.2043+17290A>C
c.85578T>G (p.Ile28526Met)
c.59472T>G (p.Ile19824Met)
c.59331T>G (p.Ile19777Met)
c.85374T>G (p.Ile28458Met)
c.80772T>G (p.Ile26924Met)
c.80769T>G (p.Ile26923Met)
c.77811T>G (p.Ile25937Met)
c.59427T>G (p.Ile19809Met)
c.80922T>G (p.Ile26974Met)
c.80919T>G (p.Ile26973Met)
c.80352T>G (p.Ile26784Met)
c.77694T>G (p.Ile25898Met)
c.77613T>G (p.Ile25871Met)
c.59376T>G (p.Ile19792Met)
c.49230T>G (p.Ile16410Met)
2g.178559651A>GCA430247975TTN,TTN-AS1c.78777T>C (p.Ile26259=)
c.59862T>C (p.Ile19954=)
c.59661T>C (p.Ile19887=)
c.59286T>C (p.Ile19762=)
c.86481T>C (p.Ile28827=)
c.81558T>C (p.Ile27186=)
n.447-11649A>G
n.2043+17290A>G
c.85578T>C (p.Ile28526=)
c.59472T>C (p.Ile19824=)
c.59331T>C (p.Ile19777=)
c.85374T>C (p.Ile28458=)
c.80772T>C (p.Ile26924=)
c.80769T>C (p.Ile26923=)
c.77811T>C (p.Ile25937=)
c.59427T>C (p.Ile19809=)
c.80922T>C (p.Ile26974=)
c.80919T>C (p.Ile26973=)
c.80352T>C (p.Ile26784=)
c.77694T>C (p.Ile25898=)
c.77613T>C (p.Ile25871=)
c.59376T>C (p.Ile19792=)
c.49230T>C (p.Ile16410=)
2g.178559651A>TCA430247977TTN,TTN-AS1c.78777T>A (p.Ile26259=)
c.59862T>A (p.Ile19954=)
c.59661T>A (p.Ile19887=)
c.59286T>A (p.Ile19762=)
c.86481T>A (p.Ile28827=)
c.81558T>A (p.Ile27186=)
n.447-11649A>T
n.2043+17290A>T
c.85578T>A (p.Ile28526=)
c.59472T>A (p.Ile19824=)
c.59331T>A (p.Ile19777=)
c.85374T>A (p.Ile28458=)
c.80772T>A (p.Ile26924=)
c.80769T>A (p.Ile26923=)
c.77811T>A (p.Ile25937=)
c.59427T>A (p.Ile19809=)
c.80922T>A (p.Ile26974=)
c.80919T>A (p.Ile26973=)
c.80352T>A (p.Ile26784=)
c.77694T>A (p.Ile25898=)
c.77613T>A (p.Ile25871=)
c.59376T>A (p.Ile19792=)
c.49230T>A (p.Ile16410=)
2g.178559652A>CCA349543463TTN,TTN-AS1c.78776T>G (p.Ile26259Ser)
c.59861T>G (p.Ile19954Ser)
c.59660T>G (p.Ile19887Ser)
c.59285T>G (p.Ile19762Ser)
c.86480T>G (p.Ile28827Ser)
c.81557T>G (p.Ile27186Ser)
n.447-11648A>C
n.2043+17291A>C
c.85577T>G (p.Ile28526Ser)
c.59471T>G (p.Ile19824Ser)
c.59330T>G (p.Ile19777Ser)
c.85373T>G (p.Ile28458Ser)
c.80771T>G (p.Ile26924Ser)
c.80768T>G (p.Ile26923Ser)
c.77810T>G (p.Ile25937Ser)
c.59426T>G (p.Ile19809Ser)
c.80921T>G (p.Ile26974Ser)
c.80918T>G (p.Ile26973Ser)
c.80351T>G (p.Ile26784Ser)
c.77693T>G (p.Ile25898Ser)
c.77612T>G (p.Ile25871Ser)
c.59375T>G (p.Ile19792Ser)
c.49229T>G (p.Ile16410Ser)
2g.178559652A>GCA349543470TTN,TTN-AS1c.78776T>C (p.Ile26259Thr)
c.59861T>C (p.Ile19954Thr)
c.59660T>C (p.Ile19887Thr)
c.59285T>C (p.Ile19762Thr)
c.86480T>C (p.Ile28827Thr)
c.81557T>C (p.Ile27186Thr)
n.447-11648A>G
n.2043+17291A>G
c.85577T>C (p.Ile28526Thr)
c.59471T>C (p.Ile19824Thr)
c.59330T>C (p.Ile19777Thr)
c.85373T>C (p.Ile28458Thr)
c.80771T>C (p.Ile26924Thr)
c.80768T>C (p.Ile26923Thr)
c.77810T>C (p.Ile25937Thr)
c.59426T>C (p.Ile19809Thr)
c.80921T>C (p.Ile26974Thr)
c.80918T>C (p.Ile26973Thr)
c.80351T>C (p.Ile26784Thr)
c.77693T>C (p.Ile25898Thr)
c.77612T>C (p.Ile25871Thr)
c.59375T>C (p.Ile19792Thr)
c.49229T>C (p.Ile16410Thr)

Number of alleles fetched