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.178559629A>CCA349543243TTN,TTN-AS1c.78799T>G (p.Ser26267Ala)
c.59884T>G (p.Ser19962Ala)
c.59683T>G (p.Ser19895Ala)
c.59308T>G (p.Ser19770Ala)
c.86503T>G (p.Ser28835Ala)
c.81580T>G (p.Ser27194Ala)
n.447-11671A>C
n.2043+17268A>C
c.85600T>G (p.Ser28534Ala)
c.59494T>G (p.Ser19832Ala)
c.59353T>G (p.Ser19785Ala)
c.85396T>G (p.Ser28466Ala)
c.80794T>G (p.Ser26932Ala)
c.80791T>G (p.Ser26931Ala)
c.77833T>G (p.Ser25945Ala)
c.59449T>G (p.Ser19817Ala)
c.80944T>G (p.Ser26982Ala)
c.80941T>G (p.Ser26981Ala)
c.80374T>G (p.Ser26792Ala)
c.77716T>G (p.Ser25906Ala)
c.77635T>G (p.Ser25879Ala)
c.59398T>G (p.Ser19800Ala)
c.49252T>G (p.Ser16418Ala)
2g.178559629A>GCA349543244TTN,TTN-AS1c.78799T>C (p.Ser26267Pro)
c.59884T>C (p.Ser19962Pro)
c.59683T>C (p.Ser19895Pro)
c.59308T>C (p.Ser19770Pro)
c.86503T>C (p.Ser28835Pro)
c.81580T>C (p.Ser27194Pro)
n.447-11671A>G
n.2043+17268A>G
c.85600T>C (p.Ser28534Pro)
c.59494T>C (p.Ser19832Pro)
c.59353T>C (p.Ser19785Pro)
c.85396T>C (p.Ser28466Pro)
c.80794T>C (p.Ser26932Pro)
c.80791T>C (p.Ser26931Pro)
c.77833T>C (p.Ser25945Pro)
c.59449T>C (p.Ser19817Pro)
c.80944T>C (p.Ser26982Pro)
c.80941T>C (p.Ser26981Pro)
c.80374T>C (p.Ser26792Pro)
c.77716T>C (p.Ser25906Pro)
c.77635T>C (p.Ser25879Pro)
c.59398T>C (p.Ser19800Pro)
c.49252T>C (p.Ser16418Pro)
2g.178559629A>TCA349543246TTN,TTN-AS1c.78799T>A (p.Ser26267Thr)
c.59884T>A (p.Ser19962Thr)
c.59683T>A (p.Ser19895Thr)
c.59308T>A (p.Ser19770Thr)
c.86503T>A (p.Ser28835Thr)
c.81580T>A (p.Ser27194Thr)
n.447-11671A>T
n.2043+17268A>T
c.85600T>A (p.Ser28534Thr)
c.59494T>A (p.Ser19832Thr)
c.59353T>A (p.Ser19785Thr)
c.85396T>A (p.Ser28466Thr)
c.80794T>A (p.Ser26932Thr)
c.80791T>A (p.Ser26931Thr)
c.77833T>A (p.Ser25945Thr)
c.59449T>A (p.Ser19817Thr)
c.80944T>A (p.Ser26982Thr)
c.80941T>A (p.Ser26981Thr)
c.80374T>A (p.Ser26792Thr)
c.77716T>A (p.Ser25906Thr)
c.77635T>A (p.Ser25879Thr)
c.59398T>A (p.Ser19800Thr)
c.49252T>A (p.Ser16418Thr)
2g.178559630A>CCA430247936TTN,TTN-AS1c.78798T>G (p.Ala26266=)
c.59883T>G (p.Ala19961=)
c.59682T>G (p.Ala19894=)
c.59307T>G (p.Ala19769=)
c.86502T>G (p.Ala28834=)
c.81579T>G (p.Ala27193=)
n.447-11670A>C
n.2043+17269A>C
c.85599T>G (p.Ala28533=)
c.59493T>G (p.Ala19831=)
c.59352T>G (p.Ala19784=)
c.85395T>G (p.Ala28465=)
c.80793T>G (p.Ala26931=)
c.80790T>G (p.Ala26930=)
c.77832T>G (p.Ala25944=)
c.59448T>G (p.Ala19816=)
c.80943T>G (p.Ala26981=)
c.80940T>G (p.Ala26980=)
c.80373T>G (p.Ala26791=)
c.77715T>G (p.Ala25905=)
c.77634T>G (p.Ala25878=)
c.59397T>G (p.Ala19799=)
c.49251T>G (p.Ala16417=)
2g.178559630A>GCA430247938TTN,TTN-AS1c.78798T>C (p.Ala26266=)
c.59883T>C (p.Ala19961=)
c.59682T>C (p.Ala19894=)
c.59307T>C (p.Ala19769=)
c.86502T>C (p.Ala28834=)
c.81579T>C (p.Ala27193=)
n.447-11670A>G
n.2043+17269A>G
c.85599T>C (p.Ala28533=)
c.59493T>C (p.Ala19831=)
c.59352T>C (p.Ala19784=)
c.85395T>C (p.Ala28465=)
c.80793T>C (p.Ala26931=)
c.80790T>C (p.Ala26930=)
c.77832T>C (p.Ala25944=)
c.59448T>C (p.Ala19816=)
c.80943T>C (p.Ala26981=)
c.80940T>C (p.Ala26980=)
c.80373T>C (p.Ala26791=)
c.77715T>C (p.Ala25905=)
c.77634T>C (p.Ala25878=)
c.59397T>C (p.Ala19799=)
c.49251T>C (p.Ala16417=)
2g.178559630A>TCA430247937TTN,TTN-AS1c.78798T>A (p.Ala26266=)
c.59883T>A (p.Ala19961=)
c.59682T>A (p.Ala19894=)
c.59307T>A (p.Ala19769=)
c.86502T>A (p.Ala28834=)
c.81579T>A (p.Ala27193=)
n.447-11670A>T
n.2043+17269A>T
c.85599T>A (p.Ala28533=)
c.59493T>A (p.Ala19831=)
c.59352T>A (p.Ala19784=)
c.85395T>A (p.Ala28465=)
c.80793T>A (p.Ala26931=)
c.80790T>A (p.Ala26930=)
c.77832T>A (p.Ala25944=)
c.59448T>A (p.Ala19816=)
c.80943T>A (p.Ala26981=)
c.80940T>A (p.Ala26980=)
c.80373T>A (p.Ala26791=)
c.77715T>A (p.Ala25905=)
c.77634T>A (p.Ala25878=)
c.59397T>A (p.Ala19799=)
c.49251T>A (p.Ala16417=)
2g.178559631G>ACA1988489TTN,TTN-AS1c.78797C>T (p.Ala26266Val)
c.59882C>T (p.Ala19961Val)
c.59681C>T (p.Ala19894Val)
c.59306C>T (p.Ala19769Val)
c.86501C>T (p.Ala28834Val)
c.81578C>T (p.Ala27193Val)
n.447-11669G>A
n.2043+17270G>A
c.85598C>T (p.Ala28533Val)
c.59492C>T (p.Ala19831Val)
c.59351C>T (p.Ala19784Val)
c.85394C>T (p.Ala28465Val)
c.80792C>T (p.Ala26931Val)
c.80789C>T (p.Ala26930Val)
c.77831C>T (p.Ala25944Val)
c.59447C>T (p.Ala19816Val)
c.80942C>T (p.Ala26981Val)
c.80939C>T (p.Ala26980Val)
c.80372C>T (p.Ala26791Val)
c.77714C>T (p.Ala25905Val)
c.77633C>T (p.Ala25878Val)
c.59396C>T (p.Ala19799Val)
c.49250C>T (p.Ala16417Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178559631G>CCA349543253TTN,TTN-AS1c.78797C>G (p.Ala26266Gly)
c.59882C>G (p.Ala19961Gly)
c.59681C>G (p.Ala19894Gly)
c.59306C>G (p.Ala19769Gly)
c.86501C>G (p.Ala28834Gly)
c.81578C>G (p.Ala27193Gly)
n.447-11669G>C
n.2043+17270G>C
c.85598C>G (p.Ala28533Gly)
c.59492C>G (p.Ala19831Gly)
c.59351C>G (p.Ala19784Gly)
c.85394C>G (p.Ala28465Gly)
c.80792C>G (p.Ala26931Gly)
c.80789C>G (p.Ala26930Gly)
c.77831C>G (p.Ala25944Gly)
c.59447C>G (p.Ala19816Gly)
c.80942C>G (p.Ala26981Gly)
c.80939C>G (p.Ala26980Gly)
c.80372C>G (p.Ala26791Gly)
c.77714C>G (p.Ala25905Gly)
c.77633C>G (p.Ala25878Gly)
c.59396C>G (p.Ala19799Gly)
c.49250C>G (p.Ala16417Gly)
2g.178559631G=CA1310526704TTN,TTN-AS1c.78797C= (p.Ala26266=)
c.59882C= (p.Ala19961=)
c.59681C= (p.Ala19894=)
c.59306C= (p.Ala19769=)
c.86501C= (p.Ala28834=)
c.81578C= (p.Ala27193=)
n.447-11669G=
n.2043+17270G=
c.85598C= (p.Ala28533=)
c.59492C= (p.Ala19831=)
c.59351C= (p.Ala19784=)
c.85394C= (p.Ala28465=)
c.80792C= (p.Ala26931=)
c.80789C= (p.Ala26930=)
c.77831C= (p.Ala25944=)
c.59447C= (p.Ala19816=)
c.80942C= (p.Ala26981=)
c.80939C= (p.Ala26980=)
c.80372C= (p.Ala26791=)
c.77714C= (p.Ala25905=)
c.77633C= (p.Ala25878=)
c.59396C= (p.Ala19799=)
c.49250C= (p.Ala16417=)
2g.178559631G>TCA349543254TTN,TTN-AS1c.78797C>A (p.Ala26266Asp)
c.59882C>A (p.Ala19961Asp)
c.59681C>A (p.Ala19894Asp)
c.59306C>A (p.Ala19769Asp)
c.86501C>A (p.Ala28834Asp)
c.81578C>A (p.Ala27193Asp)
n.447-11669G>T
n.2043+17270G>T
c.85598C>A (p.Ala28533Asp)
c.59492C>A (p.Ala19831Asp)
c.59351C>A (p.Ala19784Asp)
c.85394C>A (p.Ala28465Asp)
c.80792C>A (p.Ala26931Asp)
c.80789C>A (p.Ala26930Asp)
c.77831C>A (p.Ala25944Asp)
c.59447C>A (p.Ala19816Asp)
c.80942C>A (p.Ala26981Asp)
c.80939C>A (p.Ala26980Asp)
c.80372C>A (p.Ala26791Asp)
c.77714C>A (p.Ala25905Asp)
c.77633C>A (p.Ala25878Asp)
c.59396C>A (p.Ala19799Asp)
c.49250C>A (p.Ala16417Asp)
2g.178559632C>ACA349543257TTN,TTN-AS1c.78796G>T (p.Ala26266Ser)
c.59881G>T (p.Ala19961Ser)
c.59680G>T (p.Ala19894Ser)
c.59305G>T (p.Ala19769Ser)
c.86500G>T (p.Ala28834Ser)
c.81577G>T (p.Ala27193Ser)
n.447-11668C>A
n.2043+17271C>A
c.85597G>T (p.Ala28533Ser)
c.59491G>T (p.Ala19831Ser)
c.59350G>T (p.Ala19784Ser)
c.85393G>T (p.Ala28465Ser)
c.80791G>T (p.Ala26931Ser)
c.80788G>T (p.Ala26930Ser)
c.77830G>T (p.Ala25944Ser)
c.59446G>T (p.Ala19816Ser)
c.80941G>T (p.Ala26981Ser)
c.80938G>T (p.Ala26980Ser)
c.80371G>T (p.Ala26791Ser)
c.77713G>T (p.Ala25905Ser)
c.77632G>T (p.Ala25878Ser)
c.59395G>T (p.Ala19799Ser)
c.49249G>T (p.Ala16417Ser)
2g.178559632C>GCA349543256TTN,TTN-AS1c.78796G>C (p.Ala26266Pro)
c.59881G>C (p.Ala19961Pro)
c.59680G>C (p.Ala19894Pro)
c.59305G>C (p.Ala19769Pro)
c.86500G>C (p.Ala28834Pro)
c.81577G>C (p.Ala27193Pro)
n.447-11668C>G
n.2043+17271C>G
c.85597G>C (p.Ala28533Pro)
c.59491G>C (p.Ala19831Pro)
c.59350G>C (p.Ala19784Pro)
c.85393G>C (p.Ala28465Pro)
c.80791G>C (p.Ala26931Pro)
c.80788G>C (p.Ala26930Pro)
c.77830G>C (p.Ala25944Pro)
c.59446G>C (p.Ala19816Pro)
c.80941G>C (p.Ala26981Pro)
c.80938G>C (p.Ala26980Pro)
c.80371G>C (p.Ala26791Pro)
c.77713G>C (p.Ala25905Pro)
c.77632G>C (p.Ala25878Pro)
c.59395G>C (p.Ala19799Pro)
c.49249G>C (p.Ala16417Pro)
2g.178559632C>TCA349543255TTN,TTN-AS1c.78796G>A (p.Ala26266Thr)
c.59881G>A (p.Ala19961Thr)
c.59680G>A (p.Ala19894Thr)
c.59305G>A (p.Ala19769Thr)
c.86500G>A (p.Ala28834Thr)
c.81577G>A (p.Ala27193Thr)
n.447-11668C>T
n.2043+17271C>T
c.85597G>A (p.Ala28533Thr)
c.59491G>A (p.Ala19831Thr)
c.59350G>A (p.Ala19784Thr)
c.85393G>A (p.Ala28465Thr)
c.80791G>A (p.Ala26931Thr)
c.80788G>A (p.Ala26930Thr)
c.77830G>A (p.Ala25944Thr)
c.59446G>A (p.Ala19816Thr)
c.80941G>A (p.Ala26981Thr)
c.80938G>A (p.Ala26980Thr)
c.80371G>A (p.Ala26791Thr)
c.77713G>A (p.Ala25905Thr)
c.77632G>A (p.Ala25878Thr)
c.59395G>A (p.Ala19799Thr)
c.49249G>A (p.Ala16417Thr)
2g.178559633A>CCA430247943TTN,TTN-AS1c.78795T>G (p.Ala26265=)
c.59880T>G (p.Ala19960=)
c.59679T>G (p.Ala19893=)
c.59304T>G (p.Ala19768=)
c.86499T>G (p.Ala28833=)
c.81576T>G (p.Ala27192=)
n.447-11667A>C
n.2043+17272A>C
c.85596T>G (p.Ala28532=)
c.59490T>G (p.Ala19830=)
c.59349T>G (p.Ala19783=)
c.85392T>G (p.Ala28464=)
c.80790T>G (p.Ala26930=)
c.80787T>G (p.Ala26929=)
c.77829T>G (p.Ala25943=)
c.59445T>G (p.Ala19815=)
c.80940T>G (p.Ala26980=)
c.80937T>G (p.Ala26979=)
c.80370T>G (p.Ala26790=)
c.77712T>G (p.Ala25904=)
c.77631T>G (p.Ala25877=)
c.59394T>G (p.Ala19798=)
c.49248T>G (p.Ala16416=)
 gnomAD v4
2g.178559633A>GCA430247944TTN,TTN-AS1c.78795T>C (p.Ala26265=)
c.59880T>C (p.Ala19960=)
c.59679T>C (p.Ala19893=)
c.59304T>C (p.Ala19768=)
c.86499T>C (p.Ala28833=)
c.81576T>C (p.Ala27192=)
n.447-11667A>G
n.2043+17272A>G
c.85596T>C (p.Ala28532=)
c.59490T>C (p.Ala19830=)
c.59349T>C (p.Ala19783=)
c.85392T>C (p.Ala28464=)
c.80790T>C (p.Ala26930=)
c.80787T>C (p.Ala26929=)
c.77829T>C (p.Ala25943=)
c.59445T>C (p.Ala19815=)
c.80940T>C (p.Ala26980=)
c.80937T>C (p.Ala26979=)
c.80370T>C (p.Ala26790=)
c.77712T>C (p.Ala25904=)
c.77631T>C (p.Ala25877=)
c.59394T>C (p.Ala19798=)
c.49248T>C (p.Ala16416=)
 ClinVar
2g.178559633A>TCA430247945TTN,TTN-AS1c.78795T>A (p.Ala26265=)
c.59880T>A (p.Ala19960=)
c.59679T>A (p.Ala19893=)
c.59304T>A (p.Ala19768=)
c.86499T>A (p.Ala28833=)
c.81576T>A (p.Ala27192=)
n.447-11667A>T
n.2043+17272A>T
c.85596T>A (p.Ala28532=)
c.59490T>A (p.Ala19830=)
c.59349T>A (p.Ala19783=)
c.85392T>A (p.Ala28464=)
c.80790T>A (p.Ala26930=)
c.80787T>A (p.Ala26929=)
c.77829T>A (p.Ala25943=)
c.59445T>A (p.Ala19815=)
c.80940T>A (p.Ala26980=)
c.80937T>A (p.Ala26979=)
c.80370T>A (p.Ala26790=)
c.77712T>A (p.Ala25904=)
c.77631T>A (p.Ala25877=)
c.59394T>A (p.Ala19798=)
c.49248T>A (p.Ala16416=)
2g.178559633_178559635delinsAGCCA1310526705TTN,TTN-AS1c.78793_78795delinsGCT (p.Ala26265=)
c.59878_59880delinsGCT (p.Ala19960=)
c.59677_59679delinsGCT (p.Ala19893=)
c.59302_59304delinsGCT (p.Ala19768=)
c.86497_86499delinsGCT (p.Ala28833=)
c.81574_81576delinsGCT (p.Ala27192=)
n.447-11667_447-11665delinsAGC
n.2043+17272_2043+17274delinsAGC
c.85594_85596delinsGCT (p.Ala28532=)
c.59488_59490delinsGCT (p.Ala19830=)
c.59347_59349delinsGCT (p.Ala19783=)
c.85390_85392delinsGCT (p.Ala28464=)
c.80788_80790delinsGCT (p.Ala26930=)
c.80785_80787delinsGCT (p.Ala26929=)
c.77827_77829delinsGCT (p.Ala25943=)
c.59443_59445delinsGCT (p.Ala19815=)
c.80938_80940delinsGCT (p.Ala26980=)
c.80935_80937delinsGCT (p.Ala26979=)
c.80368_80370delinsGCT (p.Ala26790=)
c.77710_77712delinsGCT (p.Ala25904=)
c.77629_77631delinsGCT (p.Ala25877=)
c.59392_59394delinsGCT (p.Ala19798=)
c.49246_49248delinsGCT (p.Ala16416=)
2g.178559634G>ACA1988490TTN,TTN-AS1c.78794C>T (p.Ala26265Val)
c.59879C>T (p.Ala19960Val)
c.59678C>T (p.Ala19893Val)
c.59303C>T (p.Ala19768Val)
c.86498C>T (p.Ala28833Val)
c.81575C>T (p.Ala27192Val)
n.447-11666G>A
n.2043+17273G>A
c.85595C>T (p.Ala28532Val)
c.59489C>T (p.Ala19830Val)
c.59348C>T (p.Ala19783Val)
c.85391C>T (p.Ala28464Val)
c.80789C>T (p.Ala26930Val)
c.80786C>T (p.Ala26929Val)
c.77828C>T (p.Ala25943Val)
c.59444C>T (p.Ala19815Val)
c.80939C>T (p.Ala26980Val)
c.80936C>T (p.Ala26979Val)
c.80369C>T (p.Ala26790Val)
c.77711C>T (p.Ala25904Val)
c.77630C>T (p.Ala25877Val)
c.59393C>T (p.Ala19798Val)
c.49247C>T (p.Ala16416Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178559634G>CCA349543262TTN,TTN-AS1c.78794C>G (p.Ala26265Gly)
c.59879C>G (p.Ala19960Gly)
c.59678C>G (p.Ala19893Gly)
c.59303C>G (p.Ala19768Gly)
c.86498C>G (p.Ala28833Gly)
c.81575C>G (p.Ala27192Gly)
n.447-11666G>C
n.2043+17273G>C
c.85595C>G (p.Ala28532Gly)
c.59489C>G (p.Ala19830Gly)
c.59348C>G (p.Ala19783Gly)
c.85391C>G (p.Ala28464Gly)
c.80789C>G (p.Ala26930Gly)
c.80786C>G (p.Ala26929Gly)
c.77828C>G (p.Ala25943Gly)
c.59444C>G (p.Ala19815Gly)
c.80939C>G (p.Ala26980Gly)
c.80936C>G (p.Ala26979Gly)
c.80369C>G (p.Ala26790Gly)
c.77711C>G (p.Ala25904Gly)
c.77630C>G (p.Ala25877Gly)
c.59393C>G (p.Ala19798Gly)
c.49247C>G (p.Ala16416Gly)
 gnomAD v4
2g.178559634G=CA1310526707TTN,TTN-AS1c.78794C= (p.Ala26265=)
c.59879C= (p.Ala19960=)
c.59678C= (p.Ala19893=)
c.59303C= (p.Ala19768=)
c.86498C= (p.Ala28833=)
c.81575C= (p.Ala27192=)
n.447-11666G=
n.2043+17273G=
c.85595C= (p.Ala28532=)
c.59489C= (p.Ala19830=)
c.59348C= (p.Ala19783=)
c.85391C= (p.Ala28464=)
c.80789C= (p.Ala26930=)
c.80786C= (p.Ala26929=)
c.77828C= (p.Ala25943=)
c.59444C= (p.Ala19815=)
c.80939C= (p.Ala26980=)
c.80936C= (p.Ala26979=)
c.80369C= (p.Ala26790=)
c.77711C= (p.Ala25904=)
c.77630C= (p.Ala25877=)
c.59393C= (p.Ala19798=)
c.49247C= (p.Ala16416=)
2g.178559634G>TCA349543265TTN,TTN-AS1c.78794C>A (p.Ala26265Asp)
c.59879C>A (p.Ala19960Asp)
c.59678C>A (p.Ala19893Asp)
c.59303C>A (p.Ala19768Asp)
c.86498C>A (p.Ala28833Asp)
c.81575C>A (p.Ala27192Asp)
n.447-11666G>T
n.2043+17273G>T
c.85595C>A (p.Ala28532Asp)
c.59489C>A (p.Ala19830Asp)
c.59348C>A (p.Ala19783Asp)
c.85391C>A (p.Ala28464Asp)
c.80789C>A (p.Ala26930Asp)
c.80786C>A (p.Ala26929Asp)
c.77828C>A (p.Ala25943Asp)
c.59444C>A (p.Ala19815Asp)
c.80939C>A (p.Ala26980Asp)
c.80936C>A (p.Ala26979Asp)
c.80369C>A (p.Ala26790Asp)
c.77711C>A (p.Ala25904Asp)
c.77630C>A (p.Ala25877Asp)
c.59393C>A (p.Ala19798Asp)
c.49247C>A (p.Ala16416Asp)
2g.178559634_178559635delCA310734TTN,TTN-AS1c.78793_78794del (p.Ala26265CysfsTer?)
c.59878_59879del (p.Ala19960CysfsTer?)
c.59677_59678del (p.Ala19893CysfsTer?)
c.59302_59303del (p.Ala19768CysfsTer?)
c.86497_86498del (p.Ala28833CysfsTer?)
c.81574_81575del (p.Ala27192CysfsTer?)
n.447-11666_447-11665del
n.2043+17273_2043+17274del
c.85594_85595del (p.Ala28532CysfsTer?)
c.59488_59489del (p.Ala19830CysfsTer?)
c.59347_59348del (p.Ala19783CysfsTer?)
c.85390_85391del (p.Ala28464CysfsTer?)
c.80788_80789del (p.Ala26930CysfsTer?)
c.80785_80786del (p.Ala26929CysfsTer?)
c.77827_77828del (p.Ala25943CysfsTer?)
c.59443_59444del (p.Ala19815CysfsTer?)
c.80938_80939del (p.Ala26980CysfsTer?)
c.80935_80936del (p.Ala26979CysfsTer?)
c.80368_80369del (p.Ala26790CysfsTer?)
c.77710_77711del (p.Ala25904CysfsTer?)
c.77629_77630del (p.Ala25877CysfsTer?)
c.59392_59393del (p.Ala19798CysfsTer?)
c.49246_49247del (p.Ala16416CysfsTer?)
 ClinVar dbSNP
2g.178559634_178559635delinsAACA310735TTN,TTN-AS1c.78793_78794delinsTT (p.Ala26265Phe)
c.59878_59879delinsTT (p.Ala19960Phe)
c.59677_59678delinsTT (p.Ala19893Phe)
c.59302_59303delinsTT (p.Ala19768Phe)
c.86497_86498delinsTT (p.Ala28833Phe)
c.81574_81575delinsTT (p.Ala27192Phe)
n.447-11666_447-11665delinsAA
n.2043+17273_2043+17274delinsAA
c.85594_85595delinsTT (p.Ala28532Phe)
c.59488_59489delinsTT (p.Ala19830Phe)
c.59347_59348delinsTT (p.Ala19783Phe)
c.85390_85391delinsTT (p.Ala28464Phe)
c.80788_80789delinsTT (p.Ala26930Phe)
c.80785_80786delinsTT (p.Ala26929Phe)
c.77827_77828delinsTT (p.Ala25943Phe)
c.59443_59444delinsTT (p.Ala19815Phe)
c.80938_80939delinsTT (p.Ala26980Phe)
c.80935_80936delinsTT (p.Ala26979Phe)
c.80368_80369delinsTT (p.Ala26790Phe)
c.77710_77711delinsTT (p.Ala25904Phe)
c.77629_77630delinsTT (p.Ala25877Phe)
c.59392_59393delinsTT (p.Ala19798Phe)
c.49246_49247delinsTT (p.Ala16416Phe)
 ClinVar dbSNP
2g.178559634_178559635delinsGCCA1310526706TTN,TTN-AS1c.78793_78794delinsGC (p.Ala26265=)
c.59878_59879delinsGC (p.Ala19960=)
c.59677_59678delinsGC (p.Ala19893=)
c.59302_59303delinsGC (p.Ala19768=)
c.86497_86498delinsGC (p.Ala28833=)
c.81574_81575delinsGC (p.Ala27192=)
n.447-11666_447-11665delinsGC
n.2043+17273_2043+17274delinsGC
c.85594_85595delinsGC (p.Ala28532=)
c.59488_59489delinsGC (p.Ala19830=)
c.59347_59348delinsGC (p.Ala19783=)
c.85390_85391delinsGC (p.Ala28464=)
c.80788_80789delinsGC (p.Ala26930=)
c.80785_80786delinsGC (p.Ala26929=)
c.77827_77828delinsGC (p.Ala25943=)
c.59443_59444delinsGC (p.Ala19815=)
c.80938_80939delinsGC (p.Ala26980=)
c.80935_80936delinsGC (p.Ala26979=)
c.80368_80369delinsGC (p.Ala26790=)
c.77710_77711delinsGC (p.Ala25904=)
c.77629_77630delinsGC (p.Ala25877=)
c.59392_59393delinsGC (p.Ala19798=)
c.49246_49247delinsGC (p.Ala16416=)
2g.178559634_178559635delinsTTCA2580064833TTN,TTN-AS1c.78793_78794delinsAA (p.Ala26265Asn)
c.59878_59879delinsAA (p.Ala19960Asn)
c.59677_59678delinsAA (p.Ala19893Asn)
c.59302_59303delinsAA (p.Ala19768Asn)
c.86497_86498delinsAA (p.Ala28833Asn)
c.81574_81575delinsAA (p.Ala27192Asn)
n.447-11666_447-11665delinsTT
n.2043+17273_2043+17274delinsTT
c.85594_85595delinsAA (p.Ala28532Asn)
c.59488_59489delinsAA (p.Ala19830Asn)
c.59347_59348delinsAA (p.Ala19783Asn)
c.85390_85391delinsAA (p.Ala28464Asn)
c.80788_80789delinsAA (p.Ala26930Asn)
c.80785_80786delinsAA (p.Ala26929Asn)
c.77827_77828delinsAA (p.Ala25943Asn)
c.59443_59444delinsAA (p.Ala19815Asn)
c.80938_80939delinsAA (p.Ala26980Asn)
c.80935_80936delinsAA (p.Ala26979Asn)
c.80368_80369delinsAA (p.Ala26790Asn)
c.77710_77711delinsAA (p.Ala25904Asn)
c.77629_77630delinsAA (p.Ala25877Asn)
c.59392_59393delinsAA (p.Ala19798Asn)
c.49246_49247delinsAA (p.Ala16416Asn)
 ClinVar
2g.178559635C>ACA1988491TTN,TTN-AS1c.78793G>T (p.Ala26265Ser)
c.59878G>T (p.Ala19960Ser)
c.59677G>T (p.Ala19893Ser)
c.59302G>T (p.Ala19768Ser)
c.86497G>T (p.Ala28833Ser)
c.81574G>T (p.Ala27192Ser)
n.447-11665C>A
n.2043+17274C>A
c.85594G>T (p.Ala28532Ser)
c.59488G>T (p.Ala19830Ser)
c.59347G>T (p.Ala19783Ser)
c.85390G>T (p.Ala28464Ser)
c.80788G>T (p.Ala26930Ser)
c.80785G>T (p.Ala26929Ser)
c.77827G>T (p.Ala25943Ser)
c.59443G>T (p.Ala19815Ser)
c.80938G>T (p.Ala26980Ser)
c.80935G>T (p.Ala26979Ser)
c.80368G>T (p.Ala26790Ser)
c.77710G>T (p.Ala25904Ser)
c.77629G>T (p.Ala25877Ser)
c.59392G>T (p.Ala19798Ser)
c.49246G>T (p.Ala16416Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178559635C=CA1310526708TTN,TTN-AS1c.78793G= (p.Ala26265=)
c.59878G= (p.Ala19960=)
c.59677G= (p.Ala19893=)
c.59302G= (p.Ala19768=)
c.86497G= (p.Ala28833=)
c.81574G= (p.Ala27192=)
n.447-11665C=
n.2043+17274C=
c.85594G= (p.Ala28532=)
c.59488G= (p.Ala19830=)
c.59347G= (p.Ala19783=)
c.85390G= (p.Ala28464=)
c.80788G= (p.Ala26930=)
c.80785G= (p.Ala26929=)
c.77827G= (p.Ala25943=)
c.59443G= (p.Ala19815=)
c.80938G= (p.Ala26980=)
c.80935G= (p.Ala26979=)
c.80368G= (p.Ala26790=)
c.77710G= (p.Ala25904=)
c.77629G= (p.Ala25877=)
c.59392G= (p.Ala19798=)
c.49246G= (p.Ala16416=)
2g.178559635C>GCA349543284TTN,TTN-AS1c.78793G>C (p.Ala26265Pro)
c.59878G>C (p.Ala19960Pro)
c.59677G>C (p.Ala19893Pro)
c.59302G>C (p.Ala19768Pro)
c.86497G>C (p.Ala28833Pro)
c.81574G>C (p.Ala27192Pro)
n.447-11665C>G
n.2043+17274C>G
c.85594G>C (p.Ala28532Pro)
c.59488G>C (p.Ala19830Pro)
c.59347G>C (p.Ala19783Pro)
c.85390G>C (p.Ala28464Pro)
c.80788G>C (p.Ala26930Pro)
c.80785G>C (p.Ala26929Pro)
c.77827G>C (p.Ala25943Pro)
c.59443G>C (p.Ala19815Pro)
c.80938G>C (p.Ala26980Pro)
c.80935G>C (p.Ala26979Pro)
c.80368G>C (p.Ala26790Pro)
c.77710G>C (p.Ala25904Pro)
c.77629G>C (p.Ala25877Pro)
c.59392G>C (p.Ala19798Pro)
c.49246G>C (p.Ala16416Pro)
2g.178559635C>TCA349543286TTN,TTN-AS1c.78793G>A (p.Ala26265Thr)
c.59878G>A (p.Ala19960Thr)
c.59677G>A (p.Ala19893Thr)
c.59302G>A (p.Ala19768Thr)
c.86497G>A (p.Ala28833Thr)
c.81574G>A (p.Ala27192Thr)
n.447-11665C>T
n.2043+17274C>T
c.85594G>A (p.Ala28532Thr)
c.59488G>A (p.Ala19830Thr)
c.59347G>A (p.Ala19783Thr)
c.85390G>A (p.Ala28464Thr)
c.80788G>A (p.Ala26930Thr)
c.80785G>A (p.Ala26929Thr)
c.77827G>A (p.Ala25943Thr)
c.59443G>A (p.Ala19815Thr)
c.80938G>A (p.Ala26980Thr)
c.80935G>A (p.Ala26979Thr)
c.80368G>A (p.Ala26790Thr)
c.77710G>A (p.Ala25904Thr)
c.77629G>A (p.Ala25877Thr)
c.59392G>A (p.Ala19798Thr)
c.49246G>A (p.Ala16416Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178559636A>CCA349543290TTN,TTN-AS1c.78792T>G (p.Ser26264Arg)
c.59877T>G (p.Ser19959Arg)
c.59676T>G (p.Ser19892Arg)
c.59301T>G (p.Ser19767Arg)
c.86496T>G (p.Ser28832Arg)
c.81573T>G (p.Ser27191Arg)
n.447-11664A>C
n.2043+17275A>C
c.85593T>G (p.Ser28531Arg)
c.59487T>G (p.Ser19829Arg)
c.59346T>G (p.Ser19782Arg)
c.85389T>G (p.Ser28463Arg)
c.80787T>G (p.Ser26929Arg)
c.80784T>G (p.Ser26928Arg)
c.77826T>G (p.Ser25942Arg)
c.59442T>G (p.Ser19814Arg)
c.80937T>G (p.Ser26979Arg)
c.80934T>G (p.Ser26978Arg)
c.80367T>G (p.Ser26789Arg)
c.77709T>G (p.Ser25903Arg)
c.77628T>G (p.Ser25876Arg)
c.59391T>G (p.Ser19797Arg)
c.49245T>G (p.Ser16415Arg)
2g.178559636A>GCA430247953TTN,TTN-AS1c.78792T>C (p.Ser26264=)
c.59877T>C (p.Ser19959=)
c.59676T>C (p.Ser19892=)
c.59301T>C (p.Ser19767=)
c.86496T>C (p.Ser28832=)
c.81573T>C (p.Ser27191=)
n.447-11664A>G
n.2043+17275A>G
c.85593T>C (p.Ser28531=)
c.59487T>C (p.Ser19829=)
c.59346T>C (p.Ser19782=)
c.85389T>C (p.Ser28463=)
c.80787T>C (p.Ser26929=)
c.80784T>C (p.Ser26928=)
c.77826T>C (p.Ser25942=)
c.59442T>C (p.Ser19814=)
c.80937T>C (p.Ser26979=)
c.80934T>C (p.Ser26978=)
c.80367T>C (p.Ser26789=)
c.77709T>C (p.Ser25903=)
c.77628T>C (p.Ser25876=)
c.59391T>C (p.Ser19797=)
c.49245T>C (p.Ser16415=)
2g.178559636A>TCA349543291TTN,TTN-AS1c.78792T>A (p.Ser26264Arg)
c.59877T>A (p.Ser19959Arg)
c.59676T>A (p.Ser19892Arg)
c.59301T>A (p.Ser19767Arg)
c.86496T>A (p.Ser28832Arg)
c.81573T>A (p.Ser27191Arg)
n.447-11664A>T
n.2043+17275A>T
c.85593T>A (p.Ser28531Arg)
c.59487T>A (p.Ser19829Arg)
c.59346T>A (p.Ser19782Arg)
c.85389T>A (p.Ser28463Arg)
c.80787T>A (p.Ser26929Arg)
c.80784T>A (p.Ser26928Arg)
c.77826T>A (p.Ser25942Arg)
c.59442T>A (p.Ser19814Arg)
c.80937T>A (p.Ser26979Arg)
c.80934T>A (p.Ser26978Arg)
c.80367T>A (p.Ser26789Arg)
c.77709T>A (p.Ser25903Arg)
c.77628T>A (p.Ser25876Arg)
c.59391T>A (p.Ser19797Arg)
c.49245T>A (p.Ser16415Arg)
2g.178559637C>ACA349543294TTN,TTN-AS1c.78791G>T (p.Ser26264Ile)
c.59876G>T (p.Ser19959Ile)
c.59675G>T (p.Ser19892Ile)
c.59300G>T (p.Ser19767Ile)
c.86495G>T (p.Ser28832Ile)
c.81572G>T (p.Ser27191Ile)
n.447-11663C>A
n.2043+17276C>A
c.85592G>T (p.Ser28531Ile)
c.59486G>T (p.Ser19829Ile)
c.59345G>T (p.Ser19782Ile)
c.85388G>T (p.Ser28463Ile)
c.80786G>T (p.Ser26929Ile)
c.80783G>T (p.Ser26928Ile)
c.77825G>T (p.Ser25942Ile)
c.59441G>T (p.Ser19814Ile)
c.80936G>T (p.Ser26979Ile)
c.80933G>T (p.Ser26978Ile)
c.80366G>T (p.Ser26789Ile)
c.77708G>T (p.Ser25903Ile)
c.77627G>T (p.Ser25876Ile)
c.59390G>T (p.Ser19797Ile)
c.49244G>T (p.Ser16415Ile)
2g.178559637C=CA1310526709TTN,TTN-AS1c.78791G= (p.Ser26264=)
c.59876G= (p.Ser19959=)
c.59675G= (p.Ser19892=)
c.59300G= (p.Ser19767=)
c.86495G= (p.Ser28832=)
c.81572G= (p.Ser27191=)
n.447-11663C=
n.2043+17276C=
c.85592G= (p.Ser28531=)
c.59486G= (p.Ser19829=)
c.59345G= (p.Ser19782=)
c.85388G= (p.Ser28463=)
c.80786G= (p.Ser26929=)
c.80783G= (p.Ser26928=)
c.77825G= (p.Ser25942=)
c.59441G= (p.Ser19814=)
c.80936G= (p.Ser26979=)
c.80933G= (p.Ser26978=)
c.80366G= (p.Ser26789=)
c.77708G= (p.Ser25903=)
c.77627G= (p.Ser25876=)
c.59390G= (p.Ser19797=)
c.49244G= (p.Ser16415=)
2g.178559637C>GCA1988492TTN,TTN-AS1c.78791G>C (p.Ser26264Thr)
c.59876G>C (p.Ser19959Thr)
c.59675G>C (p.Ser19892Thr)
c.59300G>C (p.Ser19767Thr)
c.86495G>C (p.Ser28832Thr)
c.81572G>C (p.Ser27191Thr)
n.447-11663C>G
n.2043+17276C>G
c.85592G>C (p.Ser28531Thr)
c.59486G>C (p.Ser19829Thr)
c.59345G>C (p.Ser19782Thr)
c.85388G>C (p.Ser28463Thr)
c.80786G>C (p.Ser26929Thr)
c.80783G>C (p.Ser26928Thr)
c.77825G>C (p.Ser25942Thr)
c.59441G>C (p.Ser19814Thr)
c.80936G>C (p.Ser26979Thr)
c.80933G>C (p.Ser26978Thr)
c.80366G>C (p.Ser26789Thr)
c.77708G>C (p.Ser25903Thr)
c.77627G>C (p.Ser25876Thr)
c.59390G>C (p.Ser19797Thr)
c.49244G>C (p.Ser16415Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178559637C>TCA349543299TTN,TTN-AS1c.78791G>A (p.Ser26264Asn)
c.59876G>A (p.Ser19959Asn)
c.59675G>A (p.Ser19892Asn)
c.59300G>A (p.Ser19767Asn)
c.86495G>A (p.Ser28832Asn)
c.81572G>A (p.Ser27191Asn)
n.447-11663C>T
n.2043+17276C>T
c.85592G>A (p.Ser28531Asn)
c.59486G>A (p.Ser19829Asn)
c.59345G>A (p.Ser19782Asn)
c.85388G>A (p.Ser28463Asn)
c.80786G>A (p.Ser26929Asn)
c.80783G>A (p.Ser26928Asn)
c.77825G>A (p.Ser25942Asn)
c.59441G>A (p.Ser19814Asn)
c.80936G>A (p.Ser26979Asn)
c.80933G>A (p.Ser26978Asn)
c.80366G>A (p.Ser26789Asn)
c.77708G>A (p.Ser25903Asn)
c.77627G>A (p.Ser25876Asn)
c.59390G>A (p.Ser19797Asn)
c.49244G>A (p.Ser16415Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178559638T>ACA349543322TTN,TTN-AS1c.78790A>T (p.Ser26264Cys)
c.59875A>T (p.Ser19959Cys)
c.59674A>T (p.Ser19892Cys)
c.59299A>T (p.Ser19767Cys)
c.86494A>T (p.Ser28832Cys)
c.81571A>T (p.Ser27191Cys)
n.447-11662T>A
n.2043+17277T>A
c.85591A>T (p.Ser28531Cys)
c.59485A>T (p.Ser19829Cys)
c.59344A>T (p.Ser19782Cys)
c.85387A>T (p.Ser28463Cys)
c.80785A>T (p.Ser26929Cys)
c.80782A>T (p.Ser26928Cys)
c.77824A>T (p.Ser25942Cys)
c.59440A>T (p.Ser19814Cys)
c.80935A>T (p.Ser26979Cys)
c.80932A>T (p.Ser26978Cys)
c.80365A>T (p.Ser26789Cys)
c.77707A>T (p.Ser25903Cys)
c.77626A>T (p.Ser25876Cys)
c.59389A>T (p.Ser19797Cys)
c.49243A>T (p.Ser16415Cys)
2g.178559638T>CCA349543326TTN,TTN-AS1c.78790A>G (p.Ser26264Gly)
c.59875A>G (p.Ser19959Gly)
c.59674A>G (p.Ser19892Gly)
c.59299A>G (p.Ser19767Gly)
c.86494A>G (p.Ser28832Gly)
c.81571A>G (p.Ser27191Gly)
n.447-11662T>C
n.2043+17277T>C
c.85591A>G (p.Ser28531Gly)
c.59485A>G (p.Ser19829Gly)
c.59344A>G (p.Ser19782Gly)
c.85387A>G (p.Ser28463Gly)
c.80785A>G (p.Ser26929Gly)
c.80782A>G (p.Ser26928Gly)
c.77824A>G (p.Ser25942Gly)
c.59440A>G (p.Ser19814Gly)
c.80935A>G (p.Ser26979Gly)
c.80932A>G (p.Ser26978Gly)
c.80365A>G (p.Ser26789Gly)
c.77707A>G (p.Ser25903Gly)
c.77626A>G (p.Ser25876Gly)
c.59389A>G (p.Ser19797Gly)
c.49243A>G (p.Ser16415Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178559638T>GCA349543306TTN,TTN-AS1c.78790A>C (p.Ser26264Arg)
c.59875A>C (p.Ser19959Arg)
c.59674A>C (p.Ser19892Arg)
c.59299A>C (p.Ser19767Arg)
c.86494A>C (p.Ser28832Arg)
c.81571A>C (p.Ser27191Arg)
n.447-11662T>G
n.2043+17277T>G
c.85591A>C (p.Ser28531Arg)
c.59485A>C (p.Ser19829Arg)
c.59344A>C (p.Ser19782Arg)
c.85387A>C (p.Ser28463Arg)
c.80785A>C (p.Ser26929Arg)
c.80782A>C (p.Ser26928Arg)
c.77824A>C (p.Ser25942Arg)
c.59440A>C (p.Ser19814Arg)
c.80935A>C (p.Ser26979Arg)
c.80932A>C (p.Ser26978Arg)
c.80365A>C (p.Ser26789Arg)
c.77707A>C (p.Ser25903Arg)
c.77626A>C (p.Ser25876Arg)
c.59389A>C (p.Ser19797Arg)
c.49243A>C (p.Ser16415Arg)
2g.178559639C>ACA349543333TTN,TTN-AS1c.78789G>T (p.Leu26263Phe)
c.59874G>T (p.Leu19958Phe)
c.59673G>T (p.Leu19891Phe)
c.59298G>T (p.Leu19766Phe)
c.86493G>T (p.Leu28831Phe)
c.81570G>T (p.Leu27190Phe)
n.447-11661C>A
n.2043+17278C>A
c.85590G>T (p.Leu28530Phe)
c.59484G>T (p.Leu19828Phe)
c.59343G>T (p.Leu19781Phe)
c.85386G>T (p.Leu28462Phe)
c.80784G>T (p.Leu26928Phe)
c.80781G>T (p.Leu26927Phe)
c.77823G>T (p.Leu25941Phe)
c.59439G>T (p.Leu19813Phe)
c.80934G>T (p.Leu26978Phe)
c.80931G>T (p.Leu26977Phe)
c.80364G>T (p.Leu26788Phe)
c.77706G>T (p.Leu25902Phe)
c.77625G>T (p.Leu25875Phe)
c.59388G>T (p.Leu19796Phe)
c.49242G>T (p.Leu16414Phe)
2g.178559639C=CA1310526710TTN,TTN-AS1c.78789G= (p.Leu26263=)
c.59874G= (p.Leu19958=)
c.59673G= (p.Leu19891=)
c.59298G= (p.Leu19766=)
c.86493G= (p.Leu28831=)
c.81570G= (p.Leu27190=)
n.447-11661C=
n.2043+17278C=
c.85590G= (p.Leu28530=)
c.59484G= (p.Leu19828=)
c.59343G= (p.Leu19781=)
c.85386G= (p.Leu28462=)
c.80784G= (p.Leu26928=)
c.80781G= (p.Leu26927=)
c.77823G= (p.Leu25941=)
c.59439G= (p.Leu19813=)
c.80934G= (p.Leu26978=)
c.80931G= (p.Leu26977=)
c.80364G= (p.Leu26788=)
c.77706G= (p.Leu25902=)
c.77625G= (p.Leu25875=)
c.59388G= (p.Leu19796=)
c.49242G= (p.Leu16414=)
2g.178559639C>GCA1988493TTN,TTN-AS1c.78789G>C (p.Leu26263Phe)
c.59874G>C (p.Leu19958Phe)
c.59673G>C (p.Leu19891Phe)
c.59298G>C (p.Leu19766Phe)
c.86493G>C (p.Leu28831Phe)
c.81570G>C (p.Leu27190Phe)
n.447-11661C>G
n.2043+17278C>G
c.85590G>C (p.Leu28530Phe)
c.59484G>C (p.Leu19828Phe)
c.59343G>C (p.Leu19781Phe)
c.85386G>C (p.Leu28462Phe)
c.80784G>C (p.Leu26928Phe)
c.80781G>C (p.Leu26927Phe)
c.77823G>C (p.Leu25941Phe)
c.59439G>C (p.Leu19813Phe)
c.80934G>C (p.Leu26978Phe)
c.80931G>C (p.Leu26977Phe)
c.80364G>C (p.Leu26788Phe)
c.77706G>C (p.Leu25902Phe)
c.77625G>C (p.Leu25875Phe)
c.59388G>C (p.Leu19796Phe)
c.49242G>C (p.Leu16414Phe)
 dbSNP ExAC gnomAD v2
2g.178559639C>TCA430247957TTN,TTN-AS1c.78789G>A (p.Leu26263=)
c.59874G>A (p.Leu19958=)
c.59673G>A (p.Leu19891=)
c.59298G>A (p.Leu19766=)
c.86493G>A (p.Leu28831=)
c.81570G>A (p.Leu27190=)
n.447-11661C>T
n.2043+17278C>T
c.85590G>A (p.Leu28530=)
c.59484G>A (p.Leu19828=)
c.59343G>A (p.Leu19781=)
c.85386G>A (p.Leu28462=)
c.80784G>A (p.Leu26928=)
c.80781G>A (p.Leu26927=)
c.77823G>A (p.Leu25941=)
c.59439G>A (p.Leu19813=)
c.80934G>A (p.Leu26978=)
c.80931G>A (p.Leu26977=)
c.80364G>A (p.Leu26788=)
c.77706G>A (p.Leu25902=)
c.77625G>A (p.Leu25875=)
c.59388G>A (p.Leu19796=)
c.49242G>A (p.Leu16414=)
2g.178559639_178559640delinsCACA1310526711TTN,TTN-AS1c.78788_78789delinsTG (p.Leu26263=)
c.59873_59874delinsTG (p.Leu19958=)
c.59672_59673delinsTG (p.Leu19891=)
c.59297_59298delinsTG (p.Leu19766=)
c.86492_86493delinsTG (p.Leu28831=)
c.81569_81570delinsTG (p.Leu27190=)
n.447-11661_447-11660delinsCA
n.2043+17278_2043+17279delinsCA
c.85589_85590delinsTG (p.Leu28530=)
c.59483_59484delinsTG (p.Leu19828=)
c.59342_59343delinsTG (p.Leu19781=)
c.85385_85386delinsTG (p.Leu28462=)
c.80783_80784delinsTG (p.Leu26928=)
c.80780_80781delinsTG (p.Leu26927=)
c.77822_77823delinsTG (p.Leu25941=)
c.59438_59439delinsTG (p.Leu19813=)
c.80933_80934delinsTG (p.Leu26978=)
c.80930_80931delinsTG (p.Leu26977=)
c.80363_80364delinsTG (p.Leu26788=)
c.77705_77706delinsTG (p.Leu25902=)
c.77624_77625delinsTG (p.Leu25875=)
c.59387_59388delinsTG (p.Leu19796=)
c.49241_49242delinsTG (p.Leu16414=)
2g.178559640A>CCA349543349TTN,TTN-AS1c.78788T>G (p.Leu26263Trp)
c.59873T>G (p.Leu19958Trp)
c.59672T>G (p.Leu19891Trp)
c.59297T>G (p.Leu19766Trp)
c.86492T>G (p.Leu28831Trp)
c.81569T>G (p.Leu27190Trp)
n.447-11660A>C
n.2043+17279A>C
c.85589T>G (p.Leu28530Trp)
c.59483T>G (p.Leu19828Trp)
c.59342T>G (p.Leu19781Trp)
c.85385T>G (p.Leu28462Trp)
c.80783T>G (p.Leu26928Trp)
c.80780T>G (p.Leu26927Trp)
c.77822T>G (p.Leu25941Trp)
c.59438T>G (p.Leu19813Trp)
c.80933T>G (p.Leu26978Trp)
c.80930T>G (p.Leu26977Trp)
c.80363T>G (p.Leu26788Trp)
c.77705T>G (p.Leu25902Trp)
c.77624T>G (p.Leu25875Trp)
c.59387T>G (p.Leu19796Trp)
c.49241T>G (p.Leu16414Trp)
2g.178559640A>GCA349543337TTN,TTN-AS1c.78788T>C (p.Leu26263Ser)
c.59873T>C (p.Leu19958Ser)
c.59672T>C (p.Leu19891Ser)
c.59297T>C (p.Leu19766Ser)
c.86492T>C (p.Leu28831Ser)
c.81569T>C (p.Leu27190Ser)
n.447-11660A>G
n.2043+17279A>G
c.85589T>C (p.Leu28530Ser)
c.59483T>C (p.Leu19828Ser)
c.59342T>C (p.Leu19781Ser)
c.85385T>C (p.Leu28462Ser)
c.80783T>C (p.Leu26928Ser)
c.80780T>C (p.Leu26927Ser)
c.77822T>C (p.Leu25941Ser)
c.59438T>C (p.Leu19813Ser)
c.80933T>C (p.Leu26978Ser)
c.80930T>C (p.Leu26977Ser)
c.80363T>C (p.Leu26788Ser)
c.77705T>C (p.Leu25902Ser)
c.77624T>C (p.Leu25875Ser)
c.59387T>C (p.Leu19796Ser)
c.49241T>C (p.Leu16414Ser)
2g.178559640A>TCA349543367TTN,TTN-AS1c.78788T>A (p.Leu26263Ter)
c.59873T>A (p.Leu19958Ter)
c.59672T>A (p.Leu19891Ter)
c.59297T>A (p.Leu19766Ter)
c.86492T>A (p.Leu28831Ter)
c.81569T>A (p.Leu27190Ter)
n.447-11660A>T
n.2043+17279A>T
c.85589T>A (p.Leu28530Ter)
c.59483T>A (p.Leu19828Ter)
c.59342T>A (p.Leu19781Ter)
c.85385T>A (p.Leu28462Ter)
c.80783T>A (p.Leu26928Ter)
c.80780T>A (p.Leu26927Ter)
c.77822T>A (p.Leu25941Ter)
c.59438T>A (p.Leu19813Ter)
c.80933T>A (p.Leu26978Ter)
c.80930T>A (p.Leu26977Ter)
c.80363T>A (p.Leu26788Ter)
c.77705T>A (p.Leu25902Ter)
c.77624T>A (p.Leu25875Ter)
c.59387T>A (p.Leu19796Ter)
c.49241T>A (p.Leu16414Ter)
2g.178559643delCA1310526712TTN,TTN-AS1c.78788del (p.Leu26263Ter)
c.59873del (p.Leu19958Ter)
c.59672del (p.Leu19891Ter)
c.59297del (p.Leu19766Ter)
c.86492del (p.Leu28831Ter)
c.81569del (p.Leu27190Ter)
n.447-11657del
n.2043+17282del
c.85589del (p.Leu28530Ter)
c.59483del (p.Leu19828Ter)
c.59342del (p.Leu19781Ter)
c.85385del (p.Leu28462Ter)
c.80783del (p.Leu26928Ter)
c.80780del (p.Leu26927Ter)
c.77822del (p.Leu25941Ter)
c.59438del (p.Leu19813Ter)
c.80933del (p.Leu26978Ter)
c.80930del (p.Leu26977Ter)
c.80363del (p.Leu26788Ter)
c.77705del (p.Leu25902Ter)
c.77624del (p.Leu25875Ter)
c.59387del (p.Leu19796Ter)
c.49241del (p.Leu16414Ter)
 dbSNP

Number of alleles fetched