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.178559731_178559735delCA2580064841TTN,TTN-AS1c.78695_78699del (p.Tyr26232Ter)
c.59780_59784del (p.Tyr19927Ter)
c.59579_59583del (p.Tyr19860Ter)
c.59204_59208del (p.Tyr19735Ter)
c.86399_86403del (p.Tyr28800Ter)
c.81476_81480del (p.Tyr27159Ter)
n.447-11569_447-11565del
n.2043+17370_2043+17374del
c.85496_85500del (p.Tyr28499Ter)
c.59390_59394del (p.Tyr19797Ter)
c.59249_59253del (p.Tyr19750Ter)
c.85292_85296del (p.Tyr28431Ter)
c.80690_80694del (p.Tyr26897Ter)
c.80687_80691del (p.Tyr26896Ter)
c.77729_77733del (p.Tyr25910Ter)
c.59345_59349del (p.Tyr19782Ter)
c.80840_80844del (p.Tyr26947Ter)
c.80837_80841del (p.Tyr26946Ter)
c.80270_80274del (p.Tyr26757Ter)
c.77612_77616del (p.Tyr25871Ter)
c.77531_77535del (p.Tyr25844Ter)
c.59294_59298del (p.Tyr19765Ter)
c.49148_49152del (p.Tyr16383Ter)
 ClinVar
2g.178559735A=CA1310526761TTN,TTN-AS1c.78693T= (p.Ala26231=)
c.59778T= (p.Ala19926=)
c.59577T= (p.Ala19859=)
c.59202T= (p.Ala19734=)
c.86397T= (p.Ala28799=)
c.81474T= (p.Ala27158=)
n.447-11565A=
n.2043+17374A=
c.85494T= (p.Ala28498=)
c.59388T= (p.Ala19796=)
c.59247T= (p.Ala19749=)
c.85290T= (p.Ala28430=)
c.80688T= (p.Ala26896=)
c.80685T= (p.Ala26895=)
c.77727T= (p.Ala25909=)
c.59343T= (p.Ala19781=)
c.80838T= (p.Ala26946=)
c.80835T= (p.Ala26945=)
c.80268T= (p.Ala26756=)
c.77610T= (p.Ala25870=)
c.77529T= (p.Ala25843=)
c.59292T= (p.Ala19764=)
c.49146T= (p.Ala16382=)
2g.178559735A>CCA430248100TTN,TTN-AS1c.78693T>G (p.Ala26231=)
c.59778T>G (p.Ala19926=)
c.59577T>G (p.Ala19859=)
c.59202T>G (p.Ala19734=)
c.86397T>G (p.Ala28799=)
c.81474T>G (p.Ala27158=)
n.447-11565A>C
n.2043+17374A>C
c.85494T>G (p.Ala28498=)
c.59388T>G (p.Ala19796=)
c.59247T>G (p.Ala19749=)
c.85290T>G (p.Ala28430=)
c.80688T>G (p.Ala26896=)
c.80685T>G (p.Ala26895=)
c.77727T>G (p.Ala25909=)
c.59343T>G (p.Ala19781=)
c.80838T>G (p.Ala26946=)
c.80835T>G (p.Ala26945=)
c.80268T>G (p.Ala26756=)
c.77610T>G (p.Ala25870=)
c.77529T>G (p.Ala25843=)
c.59292T>G (p.Ala19764=)
c.49146T>G (p.Ala16382=)
 ClinVar dbSNP
2g.178559735A>GCA430248101TTN,TTN-AS1c.78693T>C (p.Ala26231=)
c.59778T>C (p.Ala19926=)
c.59577T>C (p.Ala19859=)
c.59202T>C (p.Ala19734=)
c.86397T>C (p.Ala28799=)
c.81474T>C (p.Ala27158=)
n.447-11565A>G
n.2043+17374A>G
c.85494T>C (p.Ala28498=)
c.59388T>C (p.Ala19796=)
c.59247T>C (p.Ala19749=)
c.85290T>C (p.Ala28430=)
c.80688T>C (p.Ala26896=)
c.80685T>C (p.Ala26895=)
c.77727T>C (p.Ala25909=)
c.59343T>C (p.Ala19781=)
c.80838T>C (p.Ala26946=)
c.80835T>C (p.Ala26945=)
c.80268T>C (p.Ala26756=)
c.77610T>C (p.Ala25870=)
c.77529T>C (p.Ala25843=)
c.59292T>C (p.Ala19764=)
c.49146T>C (p.Ala16382=)
2g.178559735A>TCA430248102TTN,TTN-AS1c.78693T>A (p.Ala26231=)
c.59778T>A (p.Ala19926=)
c.59577T>A (p.Ala19859=)
c.59202T>A (p.Ala19734=)
c.86397T>A (p.Ala28799=)
c.81474T>A (p.Ala27158=)
n.447-11565A>T
n.2043+17374A>T
c.85494T>A (p.Ala28498=)
c.59388T>A (p.Ala19796=)
c.59247T>A (p.Ala19749=)
c.85290T>A (p.Ala28430=)
c.80688T>A (p.Ala26896=)
c.80685T>A (p.Ala26895=)
c.77727T>A (p.Ala25909=)
c.59343T>A (p.Ala19781=)
c.80838T>A (p.Ala26946=)
c.80835T>A (p.Ala26945=)
c.80268T>A (p.Ala26756=)
c.77610T>A (p.Ala25870=)
c.77529T>A (p.Ala25843=)
c.59292T>A (p.Ala19764=)
c.49146T>A (p.Ala16382=)
 gnomAD v4
2g.178559736G>ACA349544060TTN,TTN-AS1c.78692C>T (p.Ala26231Val)
c.59777C>T (p.Ala19926Val)
c.59576C>T (p.Ala19859Val)
c.59201C>T (p.Ala19734Val)
c.86396C>T (p.Ala28799Val)
c.81473C>T (p.Ala27158Val)
n.447-11564G>A
n.2043+17375G>A
c.85493C>T (p.Ala28498Val)
c.59387C>T (p.Ala19796Val)
c.59246C>T (p.Ala19749Val)
c.85289C>T (p.Ala28430Val)
c.80687C>T (p.Ala26896Val)
c.80684C>T (p.Ala26895Val)
c.77726C>T (p.Ala25909Val)
c.59342C>T (p.Ala19781Val)
c.80837C>T (p.Ala26946Val)
c.80834C>T (p.Ala26945Val)
c.80267C>T (p.Ala26756Val)
c.77609C>T (p.Ala25870Val)
c.77528C>T (p.Ala25843Val)
c.59291C>T (p.Ala19764Val)
c.49145C>T (p.Ala16382Val)
 gnomAD v4
2g.178559736G>CCA349544063TTN,TTN-AS1c.78692C>G (p.Ala26231Gly)
c.59777C>G (p.Ala19926Gly)
c.59576C>G (p.Ala19859Gly)
c.59201C>G (p.Ala19734Gly)
c.86396C>G (p.Ala28799Gly)
c.81473C>G (p.Ala27158Gly)
n.447-11564G>C
n.2043+17375G>C
c.85493C>G (p.Ala28498Gly)
c.59387C>G (p.Ala19796Gly)
c.59246C>G (p.Ala19749Gly)
c.85289C>G (p.Ala28430Gly)
c.80687C>G (p.Ala26896Gly)
c.80684C>G (p.Ala26895Gly)
c.77726C>G (p.Ala25909Gly)
c.59342C>G (p.Ala19781Gly)
c.80837C>G (p.Ala26946Gly)
c.80834C>G (p.Ala26945Gly)
c.80267C>G (p.Ala26756Gly)
c.77609C>G (p.Ala25870Gly)
c.77528C>G (p.Ala25843Gly)
c.59291C>G (p.Ala19764Gly)
c.49145C>G (p.Ala16382Gly)
 dbSNP
2g.178559736G=CA1310526762TTN,TTN-AS1c.78692C= (p.Ala26231=)
c.59777C= (p.Ala19926=)
c.59576C= (p.Ala19859=)
c.59201C= (p.Ala19734=)
c.86396C= (p.Ala28799=)
c.81473C= (p.Ala27158=)
n.447-11564G=
n.2043+17375G=
c.85493C= (p.Ala28498=)
c.59387C= (p.Ala19796=)
c.59246C= (p.Ala19749=)
c.85289C= (p.Ala28430=)
c.80687C= (p.Ala26896=)
c.80684C= (p.Ala26895=)
c.77726C= (p.Ala25909=)
c.59342C= (p.Ala19781=)
c.80837C= (p.Ala26946=)
c.80834C= (p.Ala26945=)
c.80267C= (p.Ala26756=)
c.77609C= (p.Ala25870=)
c.77528C= (p.Ala25843=)
c.59291C= (p.Ala19764=)
c.49145C= (p.Ala16382=)
2g.178559736G>TCA349544064TTN,TTN-AS1c.78692C>A (p.Ala26231Asp)
c.59777C>A (p.Ala19926Asp)
c.59576C>A (p.Ala19859Asp)
c.59201C>A (p.Ala19734Asp)
c.86396C>A (p.Ala28799Asp)
c.81473C>A (p.Ala27158Asp)
n.447-11564G>T
n.2043+17375G>T
c.85493C>A (p.Ala28498Asp)
c.59387C>A (p.Ala19796Asp)
c.59246C>A (p.Ala19749Asp)
c.85289C>A (p.Ala28430Asp)
c.80687C>A (p.Ala26896Asp)
c.80684C>A (p.Ala26895Asp)
c.77726C>A (p.Ala25909Asp)
c.59342C>A (p.Ala19781Asp)
c.80837C>A (p.Ala26946Asp)
c.80834C>A (p.Ala26945Asp)
c.80267C>A (p.Ala26756Asp)
c.77609C>A (p.Ala25870Asp)
c.77528C>A (p.Ala25843Asp)
c.59291C>A (p.Ala19764Asp)
c.49145C>A (p.Ala16382Asp)
2g.178559737C>ACA349544066TTN,TTN-AS1c.78691G>T (p.Ala26231Ser)
c.59776G>T (p.Ala19926Ser)
c.59575G>T (p.Ala19859Ser)
c.59200G>T (p.Ala19734Ser)
c.86395G>T (p.Ala28799Ser)
c.81472G>T (p.Ala27158Ser)
n.447-11563C>A
n.2043+17376C>A
c.85492G>T (p.Ala28498Ser)
c.59386G>T (p.Ala19796Ser)
c.59245G>T (p.Ala19749Ser)
c.85288G>T (p.Ala28430Ser)
c.80686G>T (p.Ala26896Ser)
c.80683G>T (p.Ala26895Ser)
c.77725G>T (p.Ala25909Ser)
c.59341G>T (p.Ala19781Ser)
c.80836G>T (p.Ala26946Ser)
c.80833G>T (p.Ala26945Ser)
c.80266G>T (p.Ala26756Ser)
c.77608G>T (p.Ala25870Ser)
c.77527G>T (p.Ala25843Ser)
c.59290G>T (p.Ala19764Ser)
c.49144G>T (p.Ala16382Ser)
2g.178559737C=CA1310526763TTN,TTN-AS1c.78691G= (p.Ala26231=)
c.59776G= (p.Ala19926=)
c.59575G= (p.Ala19859=)
c.59200G= (p.Ala19734=)
c.86395G= (p.Ala28799=)
c.81472G= (p.Ala27158=)
n.447-11563C=
n.2043+17376C=
c.85492G= (p.Ala28498=)
c.59386G= (p.Ala19796=)
c.59245G= (p.Ala19749=)
c.85288G= (p.Ala28430=)
c.80686G= (p.Ala26896=)
c.80683G= (p.Ala26895=)
c.77725G= (p.Ala25909=)
c.59341G= (p.Ala19781=)
c.80836G= (p.Ala26946=)
c.80833G= (p.Ala26945=)
c.80266G= (p.Ala26756=)
c.77608G= (p.Ala25870=)
c.77527G= (p.Ala25843=)
c.59290G= (p.Ala19764=)
c.49144G= (p.Ala16382=)
2g.178559737C>GCA1988506TTN,TTN-AS1c.78691G>C (p.Ala26231Pro)
c.59776G>C (p.Ala19926Pro)
c.59575G>C (p.Ala19859Pro)
c.59200G>C (p.Ala19734Pro)
c.86395G>C (p.Ala28799Pro)
c.81472G>C (p.Ala27158Pro)
n.447-11563C>G
n.2043+17376C>G
c.85492G>C (p.Ala28498Pro)
c.59386G>C (p.Ala19796Pro)
c.59245G>C (p.Ala19749Pro)
c.85288G>C (p.Ala28430Pro)
c.80686G>C (p.Ala26896Pro)
c.80683G>C (p.Ala26895Pro)
c.77725G>C (p.Ala25909Pro)
c.59341G>C (p.Ala19781Pro)
c.80836G>C (p.Ala26946Pro)
c.80833G>C (p.Ala26945Pro)
c.80266G>C (p.Ala26756Pro)
c.77608G>C (p.Ala25870Pro)
c.77527G>C (p.Ala25843Pro)
c.59290G>C (p.Ala19764Pro)
c.49144G>C (p.Ala16382Pro)
 dbSNP ExAC gnomAD v2
2g.178559737C>TCA349544070TTN,TTN-AS1c.78691G>A (p.Ala26231Thr)
c.59776G>A (p.Ala19926Thr)
c.59575G>A (p.Ala19859Thr)
c.59200G>A (p.Ala19734Thr)
c.86395G>A (p.Ala28799Thr)
c.81472G>A (p.Ala27158Thr)
n.447-11563C>T
n.2043+17376C>T
c.85492G>A (p.Ala28498Thr)
c.59386G>A (p.Ala19796Thr)
c.59245G>A (p.Ala19749Thr)
c.85288G>A (p.Ala28430Thr)
c.80686G>A (p.Ala26896Thr)
c.80683G>A (p.Ala26895Thr)
c.77725G>A (p.Ala25909Thr)
c.59341G>A (p.Ala19781Thr)
c.80836G>A (p.Ala26946Thr)
c.80833G>A (p.Ala26945Thr)
c.80266G>A (p.Ala26756Thr)
c.77608G>A (p.Ala25870Thr)
c.77527G>A (p.Ala25843Thr)
c.59290G>A (p.Ala19764Thr)
c.49144G>A (p.Ala16382Thr)
 dbSNP gnomAD v4
2g.178559738T>ACA349544079TTN,TTN-AS1c.78690A>T (p.Arg26230Ser)
c.59775A>T (p.Arg19925Ser)
c.59574A>T (p.Arg19858Ser)
c.59199A>T (p.Arg19733Ser)
c.86394A>T (p.Arg28798Ser)
c.81471A>T (p.Arg27157Ser)
n.447-11562T>A
n.2043+17377T>A
c.85491A>T (p.Arg28497Ser)
c.59385A>T (p.Arg19795Ser)
c.59244A>T (p.Arg19748Ser)
c.85287A>T (p.Arg28429Ser)
c.80685A>T (p.Arg26895Ser)
c.80682A>T (p.Arg26894Ser)
c.77724A>T (p.Arg25908Ser)
c.59340A>T (p.Arg19780Ser)
c.80835A>T (p.Arg26945Ser)
c.80832A>T (p.Arg26944Ser)
c.80265A>T (p.Arg26755Ser)
c.77607A>T (p.Arg25869Ser)
c.77526A>T (p.Arg25842Ser)
c.59289A>T (p.Arg19763Ser)
c.49143A>T (p.Arg16381Ser)
2g.178559738T>CCA430248104TTN,TTN-AS1c.78690A>G (p.Arg26230=)
c.59775A>G (p.Arg19925=)
c.59574A>G (p.Arg19858=)
c.59199A>G (p.Arg19733=)
c.86394A>G (p.Arg28798=)
c.81471A>G (p.Arg27157=)
n.447-11562T>C
n.2043+17377T>C
c.85491A>G (p.Arg28497=)
c.59385A>G (p.Arg19795=)
c.59244A>G (p.Arg19748=)
c.85287A>G (p.Arg28429=)
c.80685A>G (p.Arg26895=)
c.80682A>G (p.Arg26894=)
c.77724A>G (p.Arg25908=)
c.59340A>G (p.Arg19780=)
c.80835A>G (p.Arg26945=)
c.80832A>G (p.Arg26944=)
c.80265A>G (p.Arg26755=)
c.77607A>G (p.Arg25869=)
c.77526A>G (p.Arg25842=)
c.59289A>G (p.Arg19763=)
c.49143A>G (p.Arg16381=)
2g.178559738T>GCA349544081TTN,TTN-AS1c.78690A>C (p.Arg26230Ser)
c.59775A>C (p.Arg19925Ser)
c.59574A>C (p.Arg19858Ser)
c.59199A>C (p.Arg19733Ser)
c.86394A>C (p.Arg28798Ser)
c.81471A>C (p.Arg27157Ser)
n.447-11562T>G
n.2043+17377T>G
c.85491A>C (p.Arg28497Ser)
c.59385A>C (p.Arg19795Ser)
c.59244A>C (p.Arg19748Ser)
c.85287A>C (p.Arg28429Ser)
c.80685A>C (p.Arg26895Ser)
c.80682A>C (p.Arg26894Ser)
c.77724A>C (p.Arg25908Ser)
c.59340A>C (p.Arg19780Ser)
c.80835A>C (p.Arg26945Ser)
c.80832A>C (p.Arg26944Ser)
c.80265A>C (p.Arg26755Ser)
c.77607A>C (p.Arg25869Ser)
c.77526A>C (p.Arg25842Ser)
c.59289A>C (p.Arg19763Ser)
c.49143A>C (p.Arg16381Ser)
2g.178559739C>ACA349544084TTN,TTN-AS1c.78689G>T (p.Arg26230Ile)
c.59774G>T (p.Arg19925Ile)
c.59573G>T (p.Arg19858Ile)
c.59198G>T (p.Arg19733Ile)
c.86393G>T (p.Arg28798Ile)
c.81470G>T (p.Arg27157Ile)
n.447-11561C>A
n.2043+17378C>A
c.85490G>T (p.Arg28497Ile)
c.59384G>T (p.Arg19795Ile)
c.59243G>T (p.Arg19748Ile)
c.85286G>T (p.Arg28429Ile)
c.80684G>T (p.Arg26895Ile)
c.80681G>T (p.Arg26894Ile)
c.77723G>T (p.Arg25908Ile)
c.59339G>T (p.Arg19780Ile)
c.80834G>T (p.Arg26945Ile)
c.80831G>T (p.Arg26944Ile)
c.80264G>T (p.Arg26755Ile)
c.77606G>T (p.Arg25869Ile)
c.77525G>T (p.Arg25842Ile)
c.59288G>T (p.Arg19763Ile)
c.49142G>T (p.Arg16381Ile)
 gnomAD v4
2g.178559739C=CA1310526764TTN,TTN-AS1c.78689G= (p.Arg26230=)
c.59774G= (p.Arg19925=)
c.59573G= (p.Arg19858=)
c.59198G= (p.Arg19733=)
c.86393G= (p.Arg28798=)
c.81470G= (p.Arg27157=)
n.447-11561C=
n.2043+17378C=
c.85490G= (p.Arg28497=)
c.59384G= (p.Arg19795=)
c.59243G= (p.Arg19748=)
c.85286G= (p.Arg28429=)
c.80684G= (p.Arg26895=)
c.80681G= (p.Arg26894=)
c.77723G= (p.Arg25908=)
c.59339G= (p.Arg19780=)
c.80834G= (p.Arg26945=)
c.80831G= (p.Arg26944=)
c.80264G= (p.Arg26755=)
c.77606G= (p.Arg25869=)
c.77525G= (p.Arg25842=)
c.59288G= (p.Arg19763=)
c.49142G= (p.Arg16381=)
2g.178559739C>GCA349544087TTN,TTN-AS1c.78689G>C (p.Arg26230Thr)
c.59774G>C (p.Arg19925Thr)
c.59573G>C (p.Arg19858Thr)
c.59198G>C (p.Arg19733Thr)
c.86393G>C (p.Arg28798Thr)
c.81470G>C (p.Arg27157Thr)
n.447-11561C>G
n.2043+17378C>G
c.85490G>C (p.Arg28497Thr)
c.59384G>C (p.Arg19795Thr)
c.59243G>C (p.Arg19748Thr)
c.85286G>C (p.Arg28429Thr)
c.80684G>C (p.Arg26895Thr)
c.80681G>C (p.Arg26894Thr)
c.77723G>C (p.Arg25908Thr)
c.59339G>C (p.Arg19780Thr)
c.80834G>C (p.Arg26945Thr)
c.80831G>C (p.Arg26944Thr)
c.80264G>C (p.Arg26755Thr)
c.77606G>C (p.Arg25869Thr)
c.77525G>C (p.Arg25842Thr)
c.59288G>C (p.Arg19763Thr)
c.49142G>C (p.Arg16381Thr)
2g.178559739C>TCA1988507TTN,TTN-AS1c.78689G>A (p.Arg26230Lys)
c.59774G>A (p.Arg19925Lys)
c.59573G>A (p.Arg19858Lys)
c.59198G>A (p.Arg19733Lys)
c.86393G>A (p.Arg28798Lys)
c.81470G>A (p.Arg27157Lys)
n.447-11561C>T
n.2043+17378C>T
c.85490G>A (p.Arg28497Lys)
c.59384G>A (p.Arg19795Lys)
c.59243G>A (p.Arg19748Lys)
c.85286G>A (p.Arg28429Lys)
c.80684G>A (p.Arg26895Lys)
c.80681G>A (p.Arg26894Lys)
c.77723G>A (p.Arg25908Lys)
c.59339G>A (p.Arg19780Lys)
c.80834G>A (p.Arg26945Lys)
c.80831G>A (p.Arg26944Lys)
c.80264G>A (p.Arg26755Lys)
c.77606G>A (p.Arg25869Lys)
c.77525G>A (p.Arg25842Lys)
c.59288G>A (p.Arg19763Lys)
c.49142G>A (p.Arg16381Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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

Number of alleles fetched