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.178559740T>ACA349544093TTN,TTN-AS1c.78688A>T (p.Arg26230Ter)
c.59773A>T (p.Arg19925Ter)
c.59572A>T (p.Arg19858Ter)
c.59197A>T (p.Arg19733Ter)
c.86392A>T (p.Arg28798Ter)
c.81469A>T (p.Arg27157Ter)
n.447-11560T>A
n.2043+17379T>A
c.85489A>T (p.Arg28497Ter)
c.59383A>T (p.Arg19795Ter)
c.59242A>T (p.Arg19748Ter)
c.85285A>T (p.Arg28429Ter)
c.80683A>T (p.Arg26895Ter)
c.80680A>T (p.Arg26894Ter)
c.77722A>T (p.Arg25908Ter)
c.59338A>T (p.Arg19780Ter)
c.80833A>T (p.Arg26945Ter)
c.80830A>T (p.Arg26944Ter)
c.80263A>T (p.Arg26755Ter)
c.77605A>T (p.Arg25869Ter)
c.77524A>T (p.Arg25842Ter)
c.59287A>T (p.Arg19763Ter)
c.49141A>T (p.Arg16381Ter)
 ClinVar
2g.178559740T>CCA349544095TTN,TTN-AS1c.78688A>G (p.Arg26230Gly)
c.59773A>G (p.Arg19925Gly)
c.59572A>G (p.Arg19858Gly)
c.59197A>G (p.Arg19733Gly)
c.86392A>G (p.Arg28798Gly)
c.81469A>G (p.Arg27157Gly)
n.447-11560T>C
n.2043+17379T>C
c.85489A>G (p.Arg28497Gly)
c.59383A>G (p.Arg19795Gly)
c.59242A>G (p.Arg19748Gly)
c.85285A>G (p.Arg28429Gly)
c.80683A>G (p.Arg26895Gly)
c.80680A>G (p.Arg26894Gly)
c.77722A>G (p.Arg25908Gly)
c.59338A>G (p.Arg19780Gly)
c.80833A>G (p.Arg26945Gly)
c.80830A>G (p.Arg26944Gly)
c.80263A>G (p.Arg26755Gly)
c.77605A>G (p.Arg25869Gly)
c.77524A>G (p.Arg25842Gly)
c.59287A>G (p.Arg19763Gly)
c.49141A>G (p.Arg16381Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178559740T>GCA1988508TTN,TTN-AS1c.78688A>C (p.Arg26230=)
c.59773A>C (p.Arg19925=)
c.59572A>C (p.Arg19858=)
c.59197A>C (p.Arg19733=)
c.86392A>C (p.Arg28798=)
c.81469A>C (p.Arg27157=)
n.447-11560T>G
n.2043+17379T>G
c.85489A>C (p.Arg28497=)
c.59383A>C (p.Arg19795=)
c.59242A>C (p.Arg19748=)
c.85285A>C (p.Arg28429=)
c.80683A>C (p.Arg26895=)
c.80680A>C (p.Arg26894=)
c.77722A>C (p.Arg25908=)
c.59338A>C (p.Arg19780=)
c.80833A>C (p.Arg26945=)
c.80830A>C (p.Arg26944=)
c.80263A>C (p.Arg26755=)
c.77605A>C (p.Arg25869=)
c.77524A>C (p.Arg25842=)
c.59287A>C (p.Arg19763=)
c.49141A>C (p.Arg16381=)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.178559740T=CA1310526765TTN,TTN-AS1c.78688A= (p.Arg26230=)
c.59773A= (p.Arg19925=)
c.59572A= (p.Arg19858=)
c.59197A= (p.Arg19733=)
c.86392A= (p.Arg28798=)
c.81469A= (p.Arg27157=)
n.447-11560T=
n.2043+17379T=
c.85489A= (p.Arg28497=)
c.59383A= (p.Arg19795=)
c.59242A= (p.Arg19748=)
c.85285A= (p.Arg28429=)
c.80683A= (p.Arg26895=)
c.80680A= (p.Arg26894=)
c.77722A= (p.Arg25908=)
c.59338A= (p.Arg19780=)
c.80833A= (p.Arg26945=)
c.80830A= (p.Arg26944=)
c.80263A= (p.Arg26755=)
c.77605A= (p.Arg25869=)
c.77524A= (p.Arg25842=)
c.59287A= (p.Arg19763=)
c.49141A= (p.Arg16381=)
2g.178559740_178559745delinsTAGTACCA1310526766TTN,TTN-AS1c.78683_78688delinsGTACTA (p.Arg26228=)
c.59768_59773delinsGTACTA (p.Arg19923=)
c.59567_59572delinsGTACTA (p.Arg19856=)
c.59192_59197delinsGTACTA (p.Arg19731=)
c.86387_86392delinsGTACTA (p.Arg28796=)
c.81464_81469delinsGTACTA (p.Arg27155=)
n.447-11560_447-11555delinsTAGTAC
n.2043+17379_2043+17384delinsTAGTAC
c.85484_85489delinsGTACTA (p.Arg28495=)
c.59378_59383delinsGTACTA (p.Arg19793=)
c.59237_59242delinsGTACTA (p.Arg19746=)
c.85280_85285delinsGTACTA (p.Arg28427=)
c.80678_80683delinsGTACTA (p.Arg26893=)
c.80675_80680delinsGTACTA (p.Arg26892=)
c.77717_77722delinsGTACTA (p.Arg25906=)
c.59333_59338delinsGTACTA (p.Arg19778=)
c.80828_80833delinsGTACTA (p.Arg26943=)
c.80825_80830delinsGTACTA (p.Arg26942=)
c.80258_80263delinsGTACTA (p.Arg26753=)
c.77600_77605delinsGTACTA (p.Arg25867=)
c.77519_77524delinsGTACTA (p.Arg25840=)
c.59282_59287delinsGTACTA (p.Arg19761=)
c.49136_49141delinsGTACTA (p.Arg16379=)
2g.178559741A=CA1310526767TTN,TTN-AS1c.78687T= (p.Thr26229=)
c.59772T= (p.Thr19924=)
c.59571T= (p.Thr19857=)
c.59196T= (p.Thr19732=)
c.86391T= (p.Thr28797=)
c.81468T= (p.Thr27156=)
n.447-11559A=
n.2043+17380A=
c.85488T= (p.Thr28496=)
c.59382T= (p.Thr19794=)
c.59241T= (p.Thr19747=)
c.85284T= (p.Thr28428=)
c.80682T= (p.Thr26894=)
c.80679T= (p.Thr26893=)
c.77721T= (p.Thr25907=)
c.59337T= (p.Thr19779=)
c.80832T= (p.Thr26944=)
c.80829T= (p.Thr26943=)
c.80262T= (p.Thr26754=)
c.77604T= (p.Thr25868=)
c.77523T= (p.Thr25841=)
c.59286T= (p.Thr19762=)
c.49140T= (p.Thr16380=)
2g.178559741A>CCA430248111TTN,TTN-AS1c.78687T>G (p.Thr26229=)
c.59772T>G (p.Thr19924=)
c.59571T>G (p.Thr19857=)
c.59196T>G (p.Thr19732=)
c.86391T>G (p.Thr28797=)
c.81468T>G (p.Thr27156=)
n.447-11559A>C
n.2043+17380A>C
c.85488T>G (p.Thr28496=)
c.59382T>G (p.Thr19794=)
c.59241T>G (p.Thr19747=)
c.85284T>G (p.Thr28428=)
c.80682T>G (p.Thr26894=)
c.80679T>G (p.Thr26893=)
c.77721T>G (p.Thr25907=)
c.59337T>G (p.Thr19779=)
c.80832T>G (p.Thr26944=)
c.80829T>G (p.Thr26943=)
c.80262T>G (p.Thr26754=)
c.77604T>G (p.Thr25868=)
c.77523T>G (p.Thr25841=)
c.59286T>G (p.Thr19762=)
c.49140T>G (p.Thr16380=)
 ClinVar dbSNP
2g.178559741A>GCA430248110TTN,TTN-AS1c.78687T>C (p.Thr26229=)
c.59772T>C (p.Thr19924=)
c.59571T>C (p.Thr19857=)
c.59196T>C (p.Thr19732=)
c.86391T>C (p.Thr28797=)
c.81468T>C (p.Thr27156=)
n.447-11559A>G
n.2043+17380A>G
c.85488T>C (p.Thr28496=)
c.59382T>C (p.Thr19794=)
c.59241T>C (p.Thr19747=)
c.85284T>C (p.Thr28428=)
c.80682T>C (p.Thr26894=)
c.80679T>C (p.Thr26893=)
c.77721T>C (p.Thr25907=)
c.59337T>C (p.Thr19779=)
c.80832T>C (p.Thr26944=)
c.80829T>C (p.Thr26943=)
c.80262T>C (p.Thr26754=)
c.77604T>C (p.Thr25868=)
c.77523T>C (p.Thr25841=)
c.59286T>C (p.Thr19762=)
c.49140T>C (p.Thr16380=)
 gnomAD v4
2g.178559741A>TCA430248106TTN,TTN-AS1c.78687T>A (p.Thr26229=)
c.59772T>A (p.Thr19924=)
c.59571T>A (p.Thr19857=)
c.59196T>A (p.Thr19732=)
c.86391T>A (p.Thr28797=)
c.81468T>A (p.Thr27156=)
n.447-11559A>T
n.2043+17380A>T
c.85488T>A (p.Thr28496=)
c.59382T>A (p.Thr19794=)
c.59241T>A (p.Thr19747=)
c.85284T>A (p.Thr28428=)
c.80682T>A (p.Thr26894=)
c.80679T>A (p.Thr26893=)
c.77721T>A (p.Thr25907=)
c.59337T>A (p.Thr19779=)
c.80832T>A (p.Thr26944=)
c.80829T>A (p.Thr26943=)
c.80262T>A (p.Thr26754=)
c.77604T>A (p.Thr25868=)
c.77523T>A (p.Thr25841=)
c.59286T>A (p.Thr19762=)
c.49140T>A (p.Thr16380=)
2g.178559741_178559745delCA309445TTN,TTN-AS1c.78683_78687del (p.Arg26228GlnfsTer5)
c.59768_59772del (p.Arg19923GlnfsTer5)
c.59567_59571del (p.Arg19856GlnfsTer5)
c.59192_59196del (p.Arg19731GlnfsTer5)
c.86387_86391del (p.Arg28796GlnfsTer5)
c.81464_81468del (p.Arg27155GlnfsTer5)
n.447-11559_447-11555del
n.2043+17380_2043+17384del
c.85484_85488del (p.Arg28495GlnfsTer5)
c.59378_59382del (p.Arg19793GlnfsTer5)
c.59237_59241del (p.Arg19746GlnfsTer5)
c.85280_85284del (p.Arg28427GlnfsTer5)
c.80678_80682del (p.Arg26893GlnfsTer5)
c.80675_80679del (p.Arg26892GlnfsTer5)
c.77717_77721del (p.Arg25906GlnfsTer5)
c.59333_59337del (p.Arg19778GlnfsTer5)
c.80828_80832del (p.Arg26943GlnfsTer5)
c.80825_80829del (p.Arg26942GlnfsTer5)
c.80258_80262del (p.Arg26753GlnfsTer5)
c.77600_77604del (p.Arg25867GlnfsTer5)
c.77519_77523del (p.Arg25840GlnfsTer5)
c.59282_59286del (p.Arg19761GlnfsTer5)
c.49136_49140del (p.Arg16379GlnfsTer5)
 ClinVar dbSNP
2g.178559742G>ACA349544105TTN,TTN-AS1c.78686C>T (p.Thr26229Ile)
c.59771C>T (p.Thr19924Ile)
c.59570C>T (p.Thr19857Ile)
c.59195C>T (p.Thr19732Ile)
c.86390C>T (p.Thr28797Ile)
c.81467C>T (p.Thr27156Ile)
n.447-11558G>A
n.2043+17381G>A
c.85487C>T (p.Thr28496Ile)
c.59381C>T (p.Thr19794Ile)
c.59240C>T (p.Thr19747Ile)
c.85283C>T (p.Thr28428Ile)
c.80681C>T (p.Thr26894Ile)
c.80678C>T (p.Thr26893Ile)
c.77720C>T (p.Thr25907Ile)
c.59336C>T (p.Thr19779Ile)
c.80831C>T (p.Thr26944Ile)
c.80828C>T (p.Thr26943Ile)
c.80261C>T (p.Thr26754Ile)
c.77603C>T (p.Thr25868Ile)
c.77522C>T (p.Thr25841Ile)
c.59285C>T (p.Thr19762Ile)
c.49139C>T (p.Thr16380Ile)
2g.178559742G>CCA349544115TTN,TTN-AS1c.78686C>G (p.Thr26229Ser)
c.59771C>G (p.Thr19924Ser)
c.59570C>G (p.Thr19857Ser)
c.59195C>G (p.Thr19732Ser)
c.86390C>G (p.Thr28797Ser)
c.81467C>G (p.Thr27156Ser)
n.447-11558G>C
n.2043+17381G>C
c.85487C>G (p.Thr28496Ser)
c.59381C>G (p.Thr19794Ser)
c.59240C>G (p.Thr19747Ser)
c.85283C>G (p.Thr28428Ser)
c.80681C>G (p.Thr26894Ser)
c.80678C>G (p.Thr26893Ser)
c.77720C>G (p.Thr25907Ser)
c.59336C>G (p.Thr19779Ser)
c.80831C>G (p.Thr26944Ser)
c.80828C>G (p.Thr26943Ser)
c.80261C>G (p.Thr26754Ser)
c.77603C>G (p.Thr25868Ser)
c.77522C>G (p.Thr25841Ser)
c.59285C>G (p.Thr19762Ser)
c.49139C>G (p.Thr16380Ser)
2g.178559742G>TCA349544118TTN,TTN-AS1c.78686C>A (p.Thr26229Asn)
c.59771C>A (p.Thr19924Asn)
c.59570C>A (p.Thr19857Asn)
c.59195C>A (p.Thr19732Asn)
c.86390C>A (p.Thr28797Asn)
c.81467C>A (p.Thr27156Asn)
n.447-11558G>T
n.2043+17381G>T
c.85487C>A (p.Thr28496Asn)
c.59381C>A (p.Thr19794Asn)
c.59240C>A (p.Thr19747Asn)
c.85283C>A (p.Thr28428Asn)
c.80681C>A (p.Thr26894Asn)
c.80678C>A (p.Thr26893Asn)
c.77720C>A (p.Thr25907Asn)
c.59336C>A (p.Thr19779Asn)
c.80831C>A (p.Thr26944Asn)
c.80828C>A (p.Thr26943Asn)
c.80261C>A (p.Thr26754Asn)
c.77603C>A (p.Thr25868Asn)
c.77522C>A (p.Thr25841Asn)
c.59285C>A (p.Thr19762Asn)
c.49139C>A (p.Thr16380Asn)
2g.178559743T>ACA349544130TTN,TTN-AS1c.78685A>T (p.Thr26229Ser)
c.59770A>T (p.Thr19924Ser)
c.59569A>T (p.Thr19857Ser)
c.59194A>T (p.Thr19732Ser)
c.86389A>T (p.Thr28797Ser)
c.81466A>T (p.Thr27156Ser)
n.447-11557T>A
n.2043+17382T>A
c.85486A>T (p.Thr28496Ser)
c.59380A>T (p.Thr19794Ser)
c.59239A>T (p.Thr19747Ser)
c.85282A>T (p.Thr28428Ser)
c.80680A>T (p.Thr26894Ser)
c.80677A>T (p.Thr26893Ser)
c.77719A>T (p.Thr25907Ser)
c.59335A>T (p.Thr19779Ser)
c.80830A>T (p.Thr26944Ser)
c.80827A>T (p.Thr26943Ser)
c.80260A>T (p.Thr26754Ser)
c.77602A>T (p.Thr25868Ser)
c.77521A>T (p.Thr25841Ser)
c.59284A>T (p.Thr19762Ser)
c.49138A>T (p.Thr16380Ser)
2g.178559743T>CCA349544133TTN,TTN-AS1c.78685A>G (p.Thr26229Ala)
c.59770A>G (p.Thr19924Ala)
c.59569A>G (p.Thr19857Ala)
c.59194A>G (p.Thr19732Ala)
c.86389A>G (p.Thr28797Ala)
c.81466A>G (p.Thr27156Ala)
n.447-11557T>C
n.2043+17382T>C
c.85486A>G (p.Thr28496Ala)
c.59380A>G (p.Thr19794Ala)
c.59239A>G (p.Thr19747Ala)
c.85282A>G (p.Thr28428Ala)
c.80680A>G (p.Thr26894Ala)
c.80677A>G (p.Thr26893Ala)
c.77719A>G (p.Thr25907Ala)
c.59335A>G (p.Thr19779Ala)
c.80830A>G (p.Thr26944Ala)
c.80827A>G (p.Thr26943Ala)
c.80260A>G (p.Thr26754Ala)
c.77602A>G (p.Thr25868Ala)
c.77521A>G (p.Thr25841Ala)
c.59284A>G (p.Thr19762Ala)
c.49138A>G (p.Thr16380Ala)
 gnomAD v4
2g.178559743T>GCA349544139TTN,TTN-AS1c.78685A>C (p.Thr26229Pro)
c.59770A>C (p.Thr19924Pro)
c.59569A>C (p.Thr19857Pro)
c.59194A>C (p.Thr19732Pro)
c.86389A>C (p.Thr28797Pro)
c.81466A>C (p.Thr27156Pro)
n.447-11557T>G
n.2043+17382T>G
c.85486A>C (p.Thr28496Pro)
c.59380A>C (p.Thr19794Pro)
c.59239A>C (p.Thr19747Pro)
c.85282A>C (p.Thr28428Pro)
c.80680A>C (p.Thr26894Pro)
c.80677A>C (p.Thr26893Pro)
c.77719A>C (p.Thr25907Pro)
c.59335A>C (p.Thr19779Pro)
c.80830A>C (p.Thr26944Pro)
c.80827A>C (p.Thr26943Pro)
c.80260A>C (p.Thr26754Pro)
c.77602A>C (p.Thr25868Pro)
c.77521A>C (p.Thr25841Pro)
c.59284A>C (p.Thr19762Pro)
c.49138A>C (p.Thr16380Pro)
2g.178559744A>CCA430248114TTN,TTN-AS1c.78684T>G (p.Arg26228=)
c.59769T>G (p.Arg19923=)
c.59568T>G (p.Arg19856=)
c.59193T>G (p.Arg19731=)
c.86388T>G (p.Arg28796=)
c.81465T>G (p.Arg27155=)
n.447-11556A>C
n.2043+17383A>C
c.85485T>G (p.Arg28495=)
c.59379T>G (p.Arg19793=)
c.59238T>G (p.Arg19746=)
c.85281T>G (p.Arg28427=)
c.80679T>G (p.Arg26893=)
c.80676T>G (p.Arg26892=)
c.77718T>G (p.Arg25906=)
c.59334T>G (p.Arg19778=)
c.80829T>G (p.Arg26943=)
c.80826T>G (p.Arg26942=)
c.80259T>G (p.Arg26753=)
c.77601T>G (p.Arg25867=)
c.77520T>G (p.Arg25840=)
c.59283T>G (p.Arg19761=)
c.49137T>G (p.Arg16379=)
2g.178559744A>GCA430248115TTN,TTN-AS1c.78684T>C (p.Arg26228=)
c.59769T>C (p.Arg19923=)
c.59568T>C (p.Arg19856=)
c.59193T>C (p.Arg19731=)
c.86388T>C (p.Arg28796=)
c.81465T>C (p.Arg27155=)
n.447-11556A>G
n.2043+17383A>G
c.85485T>C (p.Arg28495=)
c.59379T>C (p.Arg19793=)
c.59238T>C (p.Arg19746=)
c.85281T>C (p.Arg28427=)
c.80679T>C (p.Arg26893=)
c.80676T>C (p.Arg26892=)
c.77718T>C (p.Arg25906=)
c.59334T>C (p.Arg19778=)
c.80829T>C (p.Arg26943=)
c.80826T>C (p.Arg26942=)
c.80259T>C (p.Arg26753=)
c.77601T>C (p.Arg25867=)
c.77520T>C (p.Arg25840=)
c.59283T>C (p.Arg19761=)
c.49137T>C (p.Arg16379=)
2g.178559744A>TCA430248116TTN,TTN-AS1c.78684T>A (p.Arg26228=)
c.59769T>A (p.Arg19923=)
c.59568T>A (p.Arg19856=)
c.59193T>A (p.Arg19731=)
c.86388T>A (p.Arg28796=)
c.81465T>A (p.Arg27155=)
n.447-11556A>T
n.2043+17383A>T
c.85485T>A (p.Arg28495=)
c.59379T>A (p.Arg19793=)
c.59238T>A (p.Arg19746=)
c.85281T>A (p.Arg28427=)
c.80679T>A (p.Arg26893=)
c.80676T>A (p.Arg26892=)
c.77718T>A (p.Arg25906=)
c.59334T>A (p.Arg19778=)
c.80829T>A (p.Arg26943=)
c.80826T>A (p.Arg26942=)
c.80259T>A (p.Arg26753=)
c.77601T>A (p.Arg25867=)
c.77520T>A (p.Arg25840=)
c.59283T>A (p.Arg19761=)
c.49137T>A (p.Arg16379=)
2g.178559745C>ACA349544140TTN,TTN-AS1c.78683G>T (p.Arg26228Leu)
c.59768G>T (p.Arg19923Leu)
c.59567G>T (p.Arg19856Leu)
c.59192G>T (p.Arg19731Leu)
c.86387G>T (p.Arg28796Leu)
c.81464G>T (p.Arg27155Leu)
n.447-11555C>A
n.2043+17384C>A
c.85484G>T (p.Arg28495Leu)
c.59378G>T (p.Arg19793Leu)
c.59237G>T (p.Arg19746Leu)
c.85280G>T (p.Arg28427Leu)
c.80678G>T (p.Arg26893Leu)
c.80675G>T (p.Arg26892Leu)
c.77717G>T (p.Arg25906Leu)
c.59333G>T (p.Arg19778Leu)
c.80828G>T (p.Arg26943Leu)
c.80825G>T (p.Arg26942Leu)
c.80258G>T (p.Arg26753Leu)
c.77600G>T (p.Arg25867Leu)
c.77519G>T (p.Arg25840Leu)
c.59282G>T (p.Arg19761Leu)
c.49136G>T (p.Arg16379Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.178559745C=CA1310526768TTN,TTN-AS1c.78683G= (p.Arg26228=)
c.59768G= (p.Arg19923=)
c.59567G= (p.Arg19856=)
c.59192G= (p.Arg19731=)
c.86387G= (p.Arg28796=)
c.81464G= (p.Arg27155=)
n.447-11555C=
n.2043+17384C=
c.85484G= (p.Arg28495=)
c.59378G= (p.Arg19793=)
c.59237G= (p.Arg19746=)
c.85280G= (p.Arg28427=)
c.80678G= (p.Arg26893=)
c.80675G= (p.Arg26892=)
c.77717G= (p.Arg25906=)
c.59333G= (p.Arg19778=)
c.80828G= (p.Arg26943=)
c.80825G= (p.Arg26942=)
c.80258G= (p.Arg26753=)
c.77600G= (p.Arg25867=)
c.77519G= (p.Arg25840=)
c.59282G= (p.Arg19761=)
c.49136G= (p.Arg16379=)
2g.178559745C>GCA349544143TTN,TTN-AS1c.78683G>C (p.Arg26228Pro)
c.59768G>C (p.Arg19923Pro)
c.59567G>C (p.Arg19856Pro)
c.59192G>C (p.Arg19731Pro)
c.86387G>C (p.Arg28796Pro)
c.81464G>C (p.Arg27155Pro)
n.447-11555C>G
n.2043+17384C>G
c.85484G>C (p.Arg28495Pro)
c.59378G>C (p.Arg19793Pro)
c.59237G>C (p.Arg19746Pro)
c.85280G>C (p.Arg28427Pro)
c.80678G>C (p.Arg26893Pro)
c.80675G>C (p.Arg26892Pro)
c.77717G>C (p.Arg25906Pro)
c.59333G>C (p.Arg19778Pro)
c.80828G>C (p.Arg26943Pro)
c.80825G>C (p.Arg26942Pro)
c.80258G>C (p.Arg26753Pro)
c.77600G>C (p.Arg25867Pro)
c.77519G>C (p.Arg25840Pro)
c.59282G>C (p.Arg19761Pro)
c.49136G>C (p.Arg16379Pro)
2g.178559745C>TCA1988509TTN,TTN-AS1c.78683G>A (p.Arg26228His)
c.59768G>A (p.Arg19923His)
c.59567G>A (p.Arg19856His)
c.59192G>A (p.Arg19731His)
c.86387G>A (p.Arg28796His)
c.81464G>A (p.Arg27155His)
n.447-11555C>T
n.2043+17384C>T
c.85484G>A (p.Arg28495His)
c.59378G>A (p.Arg19793His)
c.59237G>A (p.Arg19746His)
c.85280G>A (p.Arg28427His)
c.80678G>A (p.Arg26893His)
c.80675G>A (p.Arg26892His)
c.77717G>A (p.Arg25906His)
c.59333G>A (p.Arg19778His)
c.80828G>A (p.Arg26943His)
c.80825G>A (p.Arg26942His)
c.80258G>A (p.Arg26753His)
c.77600G>A (p.Arg25867His)
c.77519G>A (p.Arg25840His)
c.59282G>A (p.Arg19761His)
c.49136G>A (p.Arg16379His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178559746G>ACA1988510TTN,TTN-AS1c.78682C>T (p.Arg26228Cys)
c.59767C>T (p.Arg19923Cys)
c.59566C>T (p.Arg19856Cys)
c.59191C>T (p.Arg19731Cys)
c.86386C>T (p.Arg28796Cys)
c.81463C>T (p.Arg27155Cys)
n.447-11554G>A
n.2043+17385G>A
c.85483C>T (p.Arg28495Cys)
c.59377C>T (p.Arg19793Cys)
c.59236C>T (p.Arg19746Cys)
c.85279C>T (p.Arg28427Cys)
c.80677C>T (p.Arg26893Cys)
c.80674C>T (p.Arg26892Cys)
c.77716C>T (p.Arg25906Cys)
c.59332C>T (p.Arg19778Cys)
c.80827C>T (p.Arg26943Cys)
c.80824C>T (p.Arg26942Cys)
c.80257C>T (p.Arg26753Cys)
c.77599C>T (p.Arg25867Cys)
c.77518C>T (p.Arg25840Cys)
c.59281C>T (p.Arg19761Cys)
c.49135C>T (p.Arg16379Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178559746G>CCA349544146TTN,TTN-AS1c.78682C>G (p.Arg26228Gly)
c.59767C>G (p.Arg19923Gly)
c.59566C>G (p.Arg19856Gly)
c.59191C>G (p.Arg19731Gly)
c.86386C>G (p.Arg28796Gly)
c.81463C>G (p.Arg27155Gly)
n.447-11554G>C
n.2043+17385G>C
c.85483C>G (p.Arg28495Gly)
c.59377C>G (p.Arg19793Gly)
c.59236C>G (p.Arg19746Gly)
c.85279C>G (p.Arg28427Gly)
c.80677C>G (p.Arg26893Gly)
c.80674C>G (p.Arg26892Gly)
c.77716C>G (p.Arg25906Gly)
c.59332C>G (p.Arg19778Gly)
c.80827C>G (p.Arg26943Gly)
c.80824C>G (p.Arg26942Gly)
c.80257C>G (p.Arg26753Gly)
c.77599C>G (p.Arg25867Gly)
c.77518C>G (p.Arg25840Gly)
c.59281C>G (p.Arg19761Gly)
c.49135C>G (p.Arg16379Gly)
 gnomAD v4
2g.178559746G=CA1310526769TTN,TTN-AS1c.78682C= (p.Arg26228=)
c.59767C= (p.Arg19923=)
c.59566C= (p.Arg19856=)
c.59191C= (p.Arg19731=)
c.86386C= (p.Arg28796=)
c.81463C= (p.Arg27155=)
n.447-11554G=
n.2043+17385G=
c.85483C= (p.Arg28495=)
c.59377C= (p.Arg19793=)
c.59236C= (p.Arg19746=)
c.85279C= (p.Arg28427=)
c.80677C= (p.Arg26893=)
c.80674C= (p.Arg26892=)
c.77716C= (p.Arg25906=)
c.59332C= (p.Arg19778=)
c.80827C= (p.Arg26943=)
c.80824C= (p.Arg26942=)
c.80257C= (p.Arg26753=)
c.77599C= (p.Arg25867=)
c.77518C= (p.Arg25840=)
c.59281C= (p.Arg19761=)
c.49135C= (p.Arg16379=)
2g.178559746G>TCA349544147TTN,TTN-AS1c.78682C>A (p.Arg26228Ser)
c.59767C>A (p.Arg19923Ser)
c.59566C>A (p.Arg19856Ser)
c.59191C>A (p.Arg19731Ser)
c.86386C>A (p.Arg28796Ser)
c.81463C>A (p.Arg27155Ser)
n.447-11554G>T
n.2043+17385G>T
c.85483C>A (p.Arg28495Ser)
c.59377C>A (p.Arg19793Ser)
c.59236C>A (p.Arg19746Ser)
c.85279C>A (p.Arg28427Ser)
c.80677C>A (p.Arg26893Ser)
c.80674C>A (p.Arg26892Ser)
c.77716C>A (p.Arg25906Ser)
c.59332C>A (p.Arg19778Ser)
c.80827C>A (p.Arg26943Ser)
c.80824C>A (p.Arg26942Ser)
c.80257C>A (p.Arg26753Ser)
c.77599C>A (p.Arg25867Ser)
c.77518C>A (p.Arg25840Ser)
c.59281C>A (p.Arg19761Ser)
c.49135C>A (p.Arg16379Ser)
2g.178559747G>ACA430248118TTN,TTN-AS1c.78681C>T (p.Leu26227=)
c.59766C>T (p.Leu19922=)
c.59565C>T (p.Leu19855=)
c.59190C>T (p.Leu19730=)
c.86385C>T (p.Leu28795=)
c.81462C>T (p.Leu27154=)
n.447-11553G>A
n.2043+17386G>A
c.85482C>T (p.Leu28494=)
c.59376C>T (p.Leu19792=)
c.59235C>T (p.Leu19745=)
c.85278C>T (p.Leu28426=)
c.80676C>T (p.Leu26892=)
c.80673C>T (p.Leu26891=)
c.77715C>T (p.Leu25905=)
c.59331C>T (p.Leu19777=)
c.80826C>T (p.Leu26942=)
c.80823C>T (p.Leu26941=)
c.80256C>T (p.Leu26752=)
c.77598C>T (p.Leu25866=)
c.77517C>T (p.Leu25839=)
c.59280C>T (p.Leu19760=)
c.49134C>T (p.Leu16378=)
 gnomAD v4
2g.178559747G>CCA430248120TTN,TTN-AS1c.78681C>G (p.Leu26227=)
c.59766C>G (p.Leu19922=)
c.59565C>G (p.Leu19855=)
c.59190C>G (p.Leu19730=)
c.86385C>G (p.Leu28795=)
c.81462C>G (p.Leu27154=)
n.447-11553G>C
n.2043+17386G>C
c.85482C>G (p.Leu28494=)
c.59376C>G (p.Leu19792=)
c.59235C>G (p.Leu19745=)
c.85278C>G (p.Leu28426=)
c.80676C>G (p.Leu26892=)
c.80673C>G (p.Leu26891=)
c.77715C>G (p.Leu25905=)
c.59331C>G (p.Leu19777=)
c.80826C>G (p.Leu26942=)
c.80823C>G (p.Leu26941=)
c.80256C>G (p.Leu26752=)
c.77598C>G (p.Leu25866=)
c.77517C>G (p.Leu25839=)
c.59280C>G (p.Leu19760=)
c.49134C>G (p.Leu16378=)
2g.178559747G>TCA430248119TTN,TTN-AS1c.78681C>A (p.Leu26227=)
c.59766C>A (p.Leu19922=)
c.59565C>A (p.Leu19855=)
c.59190C>A (p.Leu19730=)
c.86385C>A (p.Leu28795=)
c.81462C>A (p.Leu27154=)
n.447-11553G>T
n.2043+17386G>T
c.85482C>A (p.Leu28494=)
c.59376C>A (p.Leu19792=)
c.59235C>A (p.Leu19745=)
c.85278C>A (p.Leu28426=)
c.80676C>A (p.Leu26892=)
c.80673C>A (p.Leu26891=)
c.77715C>A (p.Leu25905=)
c.59331C>A (p.Leu19777=)
c.80826C>A (p.Leu26942=)
c.80823C>A (p.Leu26941=)
c.80256C>A (p.Leu26752=)
c.77598C>A (p.Leu25866=)
c.77517C>A (p.Leu25839=)
c.59280C>A (p.Leu19760=)
c.49134C>A (p.Leu16378=)
2g.178559748A>CCA349544154TTN,TTN-AS1c.78680T>G (p.Leu26227Arg)
c.59765T>G (p.Leu19922Arg)
c.59564T>G (p.Leu19855Arg)
c.59189T>G (p.Leu19730Arg)
c.86384T>G (p.Leu28795Arg)
c.81461T>G (p.Leu27154Arg)
n.447-11552A>C
n.2043+17387A>C
c.85481T>G (p.Leu28494Arg)
c.59375T>G (p.Leu19792Arg)
c.59234T>G (p.Leu19745Arg)
c.85277T>G (p.Leu28426Arg)
c.80675T>G (p.Leu26892Arg)
c.80672T>G (p.Leu26891Arg)
c.77714T>G (p.Leu25905Arg)
c.59330T>G (p.Leu19777Arg)
c.80825T>G (p.Leu26942Arg)
c.80822T>G (p.Leu26941Arg)
c.80255T>G (p.Leu26752Arg)
c.77597T>G (p.Leu25866Arg)
c.77516T>G (p.Leu25839Arg)
c.59279T>G (p.Leu19760Arg)
c.49133T>G (p.Leu16378Arg)
2g.178559748A>GCA349544149TTN,TTN-AS1c.78680T>C (p.Leu26227Pro)
c.59765T>C (p.Leu19922Pro)
c.59564T>C (p.Leu19855Pro)
c.59189T>C (p.Leu19730Pro)
c.86384T>C (p.Leu28795Pro)
c.81461T>C (p.Leu27154Pro)
n.447-11552A>G
n.2043+17387A>G
c.85481T>C (p.Leu28494Pro)
c.59375T>C (p.Leu19792Pro)
c.59234T>C (p.Leu19745Pro)
c.85277T>C (p.Leu28426Pro)
c.80675T>C (p.Leu26892Pro)
c.80672T>C (p.Leu26891Pro)
c.77714T>C (p.Leu25905Pro)
c.59330T>C (p.Leu19777Pro)
c.80825T>C (p.Leu26942Pro)
c.80822T>C (p.Leu26941Pro)
c.80255T>C (p.Leu26752Pro)
c.77597T>C (p.Leu25866Pro)
c.77516T>C (p.Leu25839Pro)
c.59279T>C (p.Leu19760Pro)
c.49133T>C (p.Leu16378Pro)
2g.178559748A>TCA349544148TTN,TTN-AS1c.78680T>A (p.Leu26227His)
c.59765T>A (p.Leu19922His)
c.59564T>A (p.Leu19855His)
c.59189T>A (p.Leu19730His)
c.86384T>A (p.Leu28795His)
c.81461T>A (p.Leu27154His)
n.447-11552A>T
n.2043+17387A>T
c.85481T>A (p.Leu28494His)
c.59375T>A (p.Leu19792His)
c.59234T>A (p.Leu19745His)
c.85277T>A (p.Leu28426His)
c.80675T>A (p.Leu26892His)
c.80672T>A (p.Leu26891His)
c.77714T>A (p.Leu25905His)
c.59330T>A (p.Leu19777His)
c.80825T>A (p.Leu26942His)
c.80822T>A (p.Leu26941His)
c.80255T>A (p.Leu26752His)
c.77597T>A (p.Leu25866His)
c.77516T>A (p.Leu25839His)
c.59279T>A (p.Leu19760His)
c.49133T>A (p.Leu16378His)
2g.178559749G>ACA349544155TTN,TTN-AS1c.78679C>T (p.Leu26227Phe)
c.59764C>T (p.Leu19922Phe)
c.59563C>T (p.Leu19855Phe)
c.59188C>T (p.Leu19730Phe)
c.86383C>T (p.Leu28795Phe)
c.81460C>T (p.Leu27154Phe)
n.447-11551G>A
n.2043+17388G>A
c.85480C>T (p.Leu28494Phe)
c.59374C>T (p.Leu19792Phe)
c.59233C>T (p.Leu19745Phe)
c.85276C>T (p.Leu28426Phe)
c.80674C>T (p.Leu26892Phe)
c.80671C>T (p.Leu26891Phe)
c.77713C>T (p.Leu25905Phe)
c.59329C>T (p.Leu19777Phe)
c.80824C>T (p.Leu26942Phe)
c.80821C>T (p.Leu26941Phe)
c.80254C>T (p.Leu26752Phe)
c.77596C>T (p.Leu25866Phe)
c.77515C>T (p.Leu25839Phe)
c.59278C>T (p.Leu19760Phe)
c.49132C>T (p.Leu16378Phe)
2g.178559749G>CCA349544158TTN,TTN-AS1c.78679C>G (p.Leu26227Val)
c.59764C>G (p.Leu19922Val)
c.59563C>G (p.Leu19855Val)
c.59188C>G (p.Leu19730Val)
c.86383C>G (p.Leu28795Val)
c.81460C>G (p.Leu27154Val)
n.447-11551G>C
n.2043+17388G>C
c.85480C>G (p.Leu28494Val)
c.59374C>G (p.Leu19792Val)
c.59233C>G (p.Leu19745Val)
c.85276C>G (p.Leu28426Val)
c.80674C>G (p.Leu26892Val)
c.80671C>G (p.Leu26891Val)
c.77713C>G (p.Leu25905Val)
c.59329C>G (p.Leu19777Val)
c.80824C>G (p.Leu26942Val)
c.80821C>G (p.Leu26941Val)
c.80254C>G (p.Leu26752Val)
c.77596C>G (p.Leu25866Val)
c.77515C>G (p.Leu25839Val)
c.59278C>G (p.Leu19760Val)
c.49132C>G (p.Leu16378Val)
2g.178559749G>TCA349544156TTN,TTN-AS1c.78679C>A (p.Leu26227Ile)
c.59764C>A (p.Leu19922Ile)
c.59563C>A (p.Leu19855Ile)
c.59188C>A (p.Leu19730Ile)
c.86383C>A (p.Leu28795Ile)
c.81460C>A (p.Leu27154Ile)
n.447-11551G>T
n.2043+17388G>T
c.85480C>A (p.Leu28494Ile)
c.59374C>A (p.Leu19792Ile)
c.59233C>A (p.Leu19745Ile)
c.85276C>A (p.Leu28426Ile)
c.80674C>A (p.Leu26892Ile)
c.80671C>A (p.Leu26891Ile)
c.77713C>A (p.Leu25905Ile)
c.59329C>A (p.Leu19777Ile)
c.80824C>A (p.Leu26942Ile)
c.80821C>A (p.Leu26941Ile)
c.80254C>A (p.Leu26752Ile)
c.77596C>A (p.Leu25866Ile)
c.77515C>A (p.Leu25839Ile)
c.59278C>A (p.Leu19760Ile)
c.49132C>A (p.Leu16378Ile)
 gnomAD v4
2g.178559750G>ACA430248124TTN,TTN-AS1c.78678C>T (p.Asp26226=)
c.59763C>T (p.Asp19921=)
c.59562C>T (p.Asp19854=)
c.59187C>T (p.Asp19729=)
c.86382C>T (p.Asp28794=)
c.81459C>T (p.Asp27153=)
n.447-11550G>A
n.2043+17389G>A
c.85479C>T (p.Asp28493=)
c.59373C>T (p.Asp19791=)
c.59232C>T (p.Asp19744=)
c.85275C>T (p.Asp28425=)
c.80673C>T (p.Asp26891=)
c.80670C>T (p.Asp26890=)
c.77712C>T (p.Asp25904=)
c.59328C>T (p.Asp19776=)
c.80823C>T (p.Asp26941=)
c.80820C>T (p.Asp26940=)
c.80253C>T (p.Asp26751=)
c.77595C>T (p.Asp25865=)
c.77514C>T (p.Asp25838=)
c.59277C>T (p.Asp19759=)
c.49131C>T (p.Asp16377=)
 gnomAD v4
2g.178559750G>CCA349544159TTN,TTN-AS1c.78678C>G (p.Asp26226Glu)
c.59763C>G (p.Asp19921Glu)
c.59562C>G (p.Asp19854Glu)
c.59187C>G (p.Asp19729Glu)
c.86382C>G (p.Asp28794Glu)
c.81459C>G (p.Asp27153Glu)
n.447-11550G>C
n.2043+17389G>C
c.85479C>G (p.Asp28493Glu)
c.59373C>G (p.Asp19791Glu)
c.59232C>G (p.Asp19744Glu)
c.85275C>G (p.Asp28425Glu)
c.80673C>G (p.Asp26891Glu)
c.80670C>G (p.Asp26890Glu)
c.77712C>G (p.Asp25904Glu)
c.59328C>G (p.Asp19776Glu)
c.80823C>G (p.Asp26941Glu)
c.80820C>G (p.Asp26940Glu)
c.80253C>G (p.Asp26751Glu)
c.77595C>G (p.Asp25865Glu)
c.77514C>G (p.Asp25838Glu)
c.59277C>G (p.Asp19759Glu)
c.49131C>G (p.Asp16377Glu)
 gnomAD v4
2g.178559750G>TCA349544162TTN,TTN-AS1c.78678C>A (p.Asp26226Glu)
c.59763C>A (p.Asp19921Glu)
c.59562C>A (p.Asp19854Glu)
c.59187C>A (p.Asp19729Glu)
c.86382C>A (p.Asp28794Glu)
c.81459C>A (p.Asp27153Glu)
n.447-11550G>T
n.2043+17389G>T
c.85479C>A (p.Asp28493Glu)
c.59373C>A (p.Asp19791Glu)
c.59232C>A (p.Asp19744Glu)
c.85275C>A (p.Asp28425Glu)
c.80673C>A (p.Asp26891Glu)
c.80670C>A (p.Asp26890Glu)
c.77712C>A (p.Asp25904Glu)
c.59328C>A (p.Asp19776Glu)
c.80823C>A (p.Asp26941Glu)
c.80820C>A (p.Asp26940Glu)
c.80253C>A (p.Asp26751Glu)
c.77595C>A (p.Asp25865Glu)
c.77514C>A (p.Asp25838Glu)
c.59277C>A (p.Asp19759Glu)
c.49131C>A (p.Asp16377Glu)
2g.178559751T>ACA1988511TTN,TTN-AS1c.78677A>T (p.Asp26226Val)
c.59762A>T (p.Asp19921Val)
c.59561A>T (p.Asp19854Val)
c.59186A>T (p.Asp19729Val)
c.86381A>T (p.Asp28794Val)
c.81458A>T (p.Asp27153Val)
n.447-11549T>A
n.2043+17390T>A
c.85478A>T (p.Asp28493Val)
c.59372A>T (p.Asp19791Val)
c.59231A>T (p.Asp19744Val)
c.85274A>T (p.Asp28425Val)
c.80672A>T (p.Asp26891Val)
c.80669A>T (p.Asp26890Val)
c.77711A>T (p.Asp25904Val)
c.59327A>T (p.Asp19776Val)
c.80822A>T (p.Asp26941Val)
c.80819A>T (p.Asp26940Val)
c.80252A>T (p.Asp26751Val)
c.77594A>T (p.Asp25865Val)
c.77513A>T (p.Asp25838Val)
c.59276A>T (p.Asp19759Val)
c.49130A>T (p.Asp16377Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178559751T>CCA349544164TTN,TTN-AS1c.78677A>G (p.Asp26226Gly)
c.59762A>G (p.Asp19921Gly)
c.59561A>G (p.Asp19854Gly)
c.59186A>G (p.Asp19729Gly)
c.86381A>G (p.Asp28794Gly)
c.81458A>G (p.Asp27153Gly)
n.447-11549T>C
n.2043+17390T>C
c.85478A>G (p.Asp28493Gly)
c.59372A>G (p.Asp19791Gly)
c.59231A>G (p.Asp19744Gly)
c.85274A>G (p.Asp28425Gly)
c.80672A>G (p.Asp26891Gly)
c.80669A>G (p.Asp26890Gly)
c.77711A>G (p.Asp25904Gly)
c.59327A>G (p.Asp19776Gly)
c.80822A>G (p.Asp26941Gly)
c.80819A>G (p.Asp26940Gly)
c.80252A>G (p.Asp26751Gly)
c.77594A>G (p.Asp25865Gly)
c.77513A>G (p.Asp25838Gly)
c.59276A>G (p.Asp19759Gly)
c.49130A>G (p.Asp16377Gly)
2g.178559751T>GCA349544169TTN,TTN-AS1c.78677A>C (p.Asp26226Ala)
c.59762A>C (p.Asp19921Ala)
c.59561A>C (p.Asp19854Ala)
c.59186A>C (p.Asp19729Ala)
c.86381A>C (p.Asp28794Ala)
c.81458A>C (p.Asp27153Ala)
n.447-11549T>G
n.2043+17390T>G
c.85478A>C (p.Asp28493Ala)
c.59372A>C (p.Asp19791Ala)
c.59231A>C (p.Asp19744Ala)
c.85274A>C (p.Asp28425Ala)
c.80672A>C (p.Asp26891Ala)
c.80669A>C (p.Asp26890Ala)
c.77711A>C (p.Asp25904Ala)
c.59327A>C (p.Asp19776Ala)
c.80822A>C (p.Asp26941Ala)
c.80819A>C (p.Asp26940Ala)
c.80252A>C (p.Asp26751Ala)
c.77594A>C (p.Asp25865Ala)
c.77513A>C (p.Asp25838Ala)
c.59276A>C (p.Asp19759Ala)
c.49130A>C (p.Asp16377Ala)
2g.178559751T=CA1310526770TTN,TTN-AS1c.78677A= (p.Asp26226=)
c.59762A= (p.Asp19921=)
c.59561A= (p.Asp19854=)
c.59186A= (p.Asp19729=)
c.86381A= (p.Asp28794=)
c.81458A= (p.Asp27153=)
n.447-11549T=
n.2043+17390T=
c.85478A= (p.Asp28493=)
c.59372A= (p.Asp19791=)
c.59231A= (p.Asp19744=)
c.85274A= (p.Asp28425=)
c.80672A= (p.Asp26891=)
c.80669A= (p.Asp26890=)
c.77711A= (p.Asp25904=)
c.59327A= (p.Asp19776=)
c.80822A= (p.Asp26941=)
c.80819A= (p.Asp26940=)
c.80252A= (p.Asp26751=)
c.77594A= (p.Asp25865=)
c.77513A= (p.Asp25838=)
c.59276A= (p.Asp19759=)
c.49130A= (p.Asp16377=)
2g.178559752C>ACA349544174TTN,TTN-AS1c.78676G>T (p.Asp26226Tyr)
c.59761G>T (p.Asp19921Tyr)
c.59560G>T (p.Asp19854Tyr)
c.59185G>T (p.Asp19729Tyr)
c.86380G>T (p.Asp28794Tyr)
c.81457G>T (p.Asp27153Tyr)
n.447-11548C>A
n.2043+17391C>A
c.85477G>T (p.Asp28493Tyr)
c.59371G>T (p.Asp19791Tyr)
c.59230G>T (p.Asp19744Tyr)
c.85273G>T (p.Asp28425Tyr)
c.80671G>T (p.Asp26891Tyr)
c.80668G>T (p.Asp26890Tyr)
c.77710G>T (p.Asp25904Tyr)
c.59326G>T (p.Asp19776Tyr)
c.80821G>T (p.Asp26941Tyr)
c.80818G>T (p.Asp26940Tyr)
c.80251G>T (p.Asp26751Tyr)
c.77593G>T (p.Asp25865Tyr)
c.77512G>T (p.Asp25838Tyr)
c.59275G>T (p.Asp19759Tyr)
c.49129G>T (p.Asp16377Tyr)
2g.178559752C>GCA349544176TTN,TTN-AS1c.78676G>C (p.Asp26226His)
c.59761G>C (p.Asp19921His)
c.59560G>C (p.Asp19854His)
c.59185G>C (p.Asp19729His)
c.86380G>C (p.Asp28794His)
c.81457G>C (p.Asp27153His)
n.447-11548C>G
n.2043+17391C>G
c.85477G>C (p.Asp28493His)
c.59371G>C (p.Asp19791His)
c.59230G>C (p.Asp19744His)
c.85273G>C (p.Asp28425His)
c.80671G>C (p.Asp26891His)
c.80668G>C (p.Asp26890His)
c.77710G>C (p.Asp25904His)
c.59326G>C (p.Asp19776His)
c.80821G>C (p.Asp26941His)
c.80818G>C (p.Asp26940His)
c.80251G>C (p.Asp26751His)
c.77593G>C (p.Asp25865His)
c.77512G>C (p.Asp25838His)
c.59275G>C (p.Asp19759His)
c.49129G>C (p.Asp16377His)
 gnomAD v4
2g.178559752C>TCA349544177TTN,TTN-AS1c.78676G>A (p.Asp26226Asn)
c.59761G>A (p.Asp19921Asn)
c.59560G>A (p.Asp19854Asn)
c.59185G>A (p.Asp19729Asn)
c.86380G>A (p.Asp28794Asn)
c.81457G>A (p.Asp27153Asn)
n.447-11548C>T
n.2043+17391C>T
c.85477G>A (p.Asp28493Asn)
c.59371G>A (p.Asp19791Asn)
c.59230G>A (p.Asp19744Asn)
c.85273G>A (p.Asp28425Asn)
c.80671G>A (p.Asp26891Asn)
c.80668G>A (p.Asp26890Asn)
c.77710G>A (p.Asp25904Asn)
c.59326G>A (p.Asp19776Asn)
c.80821G>A (p.Asp26941Asn)
c.80818G>A (p.Asp26940Asn)
c.80251G>A (p.Asp26751Asn)
c.77593G>A (p.Asp25865Asn)
c.77512G>A (p.Asp25838Asn)
c.59275G>A (p.Asp19759Asn)
c.49129G>A (p.Asp16377Asn)
2g.178559753A>CCA430248127TTN,TTN-AS1c.78675T>G (p.Thr26225=)
c.59760T>G (p.Thr19920=)
c.59559T>G (p.Thr19853=)
c.59184T>G (p.Thr19728=)
c.86379T>G (p.Thr28793=)
c.81456T>G (p.Thr27152=)
n.447-11547A>C
n.2043+17392A>C
c.85476T>G (p.Thr28492=)
c.59370T>G (p.Thr19790=)
c.59229T>G (p.Thr19743=)
c.85272T>G (p.Thr28424=)
c.80670T>G (p.Thr26890=)
c.80667T>G (p.Thr26889=)
c.77709T>G (p.Thr25903=)
c.59325T>G (p.Thr19775=)
c.80820T>G (p.Thr26940=)
c.80817T>G (p.Thr26939=)
c.80250T>G (p.Thr26750=)
c.77592T>G (p.Thr25864=)
c.77511T>G (p.Thr25837=)
c.59274T>G (p.Thr19758=)
c.49128T>G (p.Thr16376=)
2g.178559753A>GCA430248129TTN,TTN-AS1c.78675T>C (p.Thr26225=)
c.59760T>C (p.Thr19920=)
c.59559T>C (p.Thr19853=)
c.59184T>C (p.Thr19728=)
c.86379T>C (p.Thr28793=)
c.81456T>C (p.Thr27152=)
n.447-11547A>G
n.2043+17392A>G
c.85476T>C (p.Thr28492=)
c.59370T>C (p.Thr19790=)
c.59229T>C (p.Thr19743=)
c.85272T>C (p.Thr28424=)
c.80670T>C (p.Thr26890=)
c.80667T>C (p.Thr26889=)
c.77709T>C (p.Thr25903=)
c.59325T>C (p.Thr19775=)
c.80820T>C (p.Thr26940=)
c.80817T>C (p.Thr26939=)
c.80250T>C (p.Thr26750=)
c.77592T>C (p.Thr25864=)
c.77511T>C (p.Thr25837=)
c.59274T>C (p.Thr19758=)
c.49128T>C (p.Thr16376=)

Number of alleles fetched