Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178588622_178589597delinsGATATTCATGGTCTGGGAGGAGATTCTGTACTTTCATACGTCTCTCAGGGATTGCACTCTTGTTGACAGGGACCCATCGTGTTGAATGCTTTTCCTTTTTCTCCAAAAAGTATCCAGTTATAGACTTTCCACCATCATATTCAGGTGGATTCCAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAAACATTGACAGTGGCATAGGCCACAAAACTGCCAGCCGTGTTAGTTGCCGTAACTACATATTTACCCCCATCACTTCGCTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCTTCA1310538880TTN,TTN-AS1c.54424_55399delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys18142=)
c.35509_36484delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11837=)
c.35308_36283delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11770=)
c.34933_35908delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11645=)
c.62128_63103delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys20710=)
c.57205_58180delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys19069=)
n.597-8974_597-7999delinsGATATTCATGGTCTGGGAGGAGATTCTGTACTTTCATACGTCTCTCAGGGATTGCACTCTTGTTGACAGGGACCCATCGTGTTGAATGCTTTTCCTTTTTCTCCAAAAAGTATCCAGTTATAGACTTTCCACCATCATATTCAGGTGGATTCCAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAAACATTGACAGTGGCATAGGCCACAAAACTGCCAGCCGTGTTAGTTGCCGTAACTACATATTTACCCCCATCACTTCGCTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCTT
n.3189-2517_3189-1542delinsGATATTCATGGTCTGGGAGGAGATTCTGTACTTTCATACGTCTCTCAGGGATTGCACTCTTGTTGACAGGGACCCATCGTGTTGAATGCTTTTCCTTTTTCTCCAAAAAGTATCCAGTTATAGACTTTCCACCATCATATTCAGGTGGATTCCAAACCACAGTCATCTCTTCTTTGCTTACTTTAGTGACTTCTGGGGGATCAGGGCGACCAGGTTTATCATACTTGGTTTTGGCTATGACTGGTTTACTTTCTGTTGGAGGCCCTGTGCCTATTTTATTTTCTGCACGGACTCTGAAAATATATTCATTTCCTTCTATGAGACGTGTTACTGTAGTACCAGGTGTCAAGACAGTAGCAGAATAGGTAGACCAAACCATTCGCTTTGTCTCACATTTTTCTAGAATATAATTTTGGATTTCACAGCCACCATCATCTTCTGGTGGATCCCAGCAAACAGTACACCTATCACTGGACACATCAACAATTTTCAGATTTCTCACAGGACCAGGCTTATCTAAAACATTGACAGTGGCATAGGCCACAAAACTGCCAGCCGTGTTAGTTGCCGTAACTACATATTTACCCCCATCACTTCGCTTTGCTTTAGTAAGAGAAAATTTAGATGAATCAGCACGGGTATCAATCTTGACCCTTGGTGATCTTGTTAAGTCTGTAGCGTCTTTGTCCTTGGTCCATGCAACTTCTGGGAATGGTTTGCCTCTAACCCCTGCCTCAAGCCTAATGGTGTCCCCTGCTTTGACAGTTAGGACCCCACTTAATTTCAGATCAAGTACTGGTTTTTGTAAGTCTTCTTTCACAACAACTTCCTCTGTCTTCACCCAGTCACTTTCCCCACCTTCATTCTTTGTTTGCACTCTGAACTCATAAATCTGGTTTTCAACACATCTGTCAACCATGTAGTGAGTTTCTTTAATGCTTCCTTTATGCACTCTTTCCCAGTCATCGGAGCCCTT
c.61225_62200delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys20409=)
c.35119_36094delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11707=)
c.34978_35953delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11660=)
c.61021_61996delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys20341=)
c.56419_57394delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys18807=)
c.56416_57391delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys18806=)
c.53458_54433delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys17820=)
c.35074_36049delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11692=)
c.56569_57544delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys18857=)
c.56566_57541delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys18856=)
c.55999_56974delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys18667=)
c.53341_54316delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys17781=)
c.53260_54235delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys17754=)
c.35023_35998delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys11675=)
c.24877_25852delinsAAGGGCTCCGATGACTGGGAAAGAGTGCATAAAGGAAGCATTAAAGAAACTCACTACATGGTTGACAGATGTGTTGAAAACCAGATTTATGAGTTCAGAGTGCAAACAAAGAATGAAGGTGGGGAAAGTGACTGGGTGAAGACAGAGGAAGTTGTTGTGAAAGAAGACTTACAAAAACCAGTACTTGATCTGAAATTAAGTGGGGTCCTAACTGTCAAAGCAGGGGACACCATTAGGCTTGAGGCAGGGGTTAGAGGCAAACCATTCCCAGAAGTTGCATGGACCAAGGACAAAGACGCTACAGACTTAACAAGATCACCAAGGGTCAAGATTGATACCCGTGCTGATTCATCTAAATTTTCTCTTACTAAAGCAAAGCGAAGTGATGGGGGTAAATATGTAGTTACGGCAACTAACACGGCTGGCAGTTTTGTGGCCTATGCCACTGTCAATGTTTTAGATAAGCCTGGTCCTGTGAGAAATCTGAAAATTGTTGATGTGTCCAGTGATAGGTGTACTGTTTGCTGGGATCCACCAGAAGATGATGGTGGCTGTGAAATCCAAAATTATATTCTAGAAAAATGTGAGACAAAGCGAATGGTTTGGTCTACCTATTCTGCTACTGTCTTGACACCTGGTACTACAGTAACACGTCTCATAGAAGGAAATGAATATATTTTCAGAGTCCGTGCAGAAAATAAAATAGGCACAGGGCCTCCAACAGAAAGTAAACCAGTCATAGCCAAAACCAAGTATGATAAACCTGGTCGCCCTGATCCCCCAGAAGTCACTAAAGTAAGCAAAGAAGAGATGACTGTGGTTTGGAATCCACCTGAATATGATGGTGGAAAGTCTATAACTGGATACTTTTTGGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGCAATCCCTGAGAGACGTATGAAAGTACAGAATCTCCTCCCAGACCATGAATATC (p.Lys8293=)
2g.178588623_178589597delinsTCCA1139657451TTN,TTN-AS1c.54424_55398delinsGA (p.Lys18142AspfsTer29)
c.35509_36483delinsGA (p.Lys11837AspfsTer29)
c.35308_36282delinsGA (p.Lys11770AspfsTer29)
c.34933_35907delinsGA (p.Lys11645AspfsTer29)
c.62128_63102delinsGA (p.Lys20710AspfsTer29)
c.57205_58179delinsGA (p.Lys19069AspfsTer29)
n.597-8973_597-7999delinsTC
n.3189-2516_3189-1542delinsTC
c.61225_62199delinsGA (p.Lys20409AspfsTer29)
c.35119_36093delinsGA (p.Lys11707AspfsTer29)
c.34978_35952delinsGA (p.Lys11660AspfsTer29)
c.61021_61995delinsGA (p.Lys20341AspfsTer29)
c.56419_57393delinsGA (p.Lys18807AspfsTer29)
c.56416_57390delinsGA (p.Lys18806AspfsTer29)
c.53458_54432delinsGA (p.Lys17820AspfsTer29)
c.35074_36048delinsGA (p.Lys11692AspfsTer29)
c.56569_57543delinsGA (p.Lys18857AspfsTer29)
c.56566_57540delinsGA (p.Lys18856AspfsTer29)
c.55999_56973delinsGA (p.Lys18667AspfsTer29)
c.53341_54315delinsGA (p.Lys17781AspfsTer29)
c.53260_54234delinsGA (p.Lys17754AspfsTer29)
c.35023_35997delinsGA (p.Lys11675AspfsTer29)
c.24877_25851delinsGA (p.Lys8293AspfsTer29)
 ClinVar dbSNP
2g.178589308T>ACA349464866TTN,TTN-AS1c.54713A>T (p.Asp18238Val)
c.35798A>T (p.Asp11933Val)
c.35597A>T (p.Asp11866Val)
c.35222A>T (p.Asp11741Val)
c.62417A>T (p.Asp20806Val)
c.57494A>T (p.Asp19165Val)
n.597-8288T>A
n.3189-1831T>A
c.61514A>T (p.Asp20505Val)
c.35408A>T (p.Asp11803Val)
c.35267A>T (p.Asp11756Val)
c.61310A>T (p.Asp20437Val)
c.56708A>T (p.Asp18903Val)
c.56705A>T (p.Asp18902Val)
c.53747A>T (p.Asp17916Val)
c.35363A>T (p.Asp11788Val)
c.56858A>T (p.Asp18953Val)
c.56855A>T (p.Asp18952Val)
c.56288A>T (p.Asp18763Val)
c.53630A>T (p.Asp17877Val)
c.53549A>T (p.Asp17850Val)
c.35312A>T (p.Asp11771Val)
c.25166A>T (p.Asp8389Val)
2g.178589308T>CCA349464867TTN,TTN-AS1c.54713A>G (p.Asp18238Gly)
c.35798A>G (p.Asp11933Gly)
c.35597A>G (p.Asp11866Gly)
c.35222A>G (p.Asp11741Gly)
c.62417A>G (p.Asp20806Gly)
c.57494A>G (p.Asp19165Gly)
n.597-8288T>C
n.3189-1831T>C
c.61514A>G (p.Asp20505Gly)
c.35408A>G (p.Asp11803Gly)
c.35267A>G (p.Asp11756Gly)
c.61310A>G (p.Asp20437Gly)
c.56708A>G (p.Asp18903Gly)
c.56705A>G (p.Asp18902Gly)
c.53747A>G (p.Asp17916Gly)
c.35363A>G (p.Asp11788Gly)
c.56858A>G (p.Asp18953Gly)
c.56855A>G (p.Asp18952Gly)
c.56288A>G (p.Asp18763Gly)
c.53630A>G (p.Asp17877Gly)
c.53549A>G (p.Asp17850Gly)
c.35312A>G (p.Asp11771Gly)
c.25166A>G (p.Asp8389Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178589308T>GCA349464869TTN,TTN-AS1c.54713A>C (p.Asp18238Ala)
c.35798A>C (p.Asp11933Ala)
c.35597A>C (p.Asp11866Ala)
c.35222A>C (p.Asp11741Ala)
c.62417A>C (p.Asp20806Ala)
c.57494A>C (p.Asp19165Ala)
n.597-8288T>G
n.3189-1831T>G
c.61514A>C (p.Asp20505Ala)
c.35408A>C (p.Asp11803Ala)
c.35267A>C (p.Asp11756Ala)
c.61310A>C (p.Asp20437Ala)
c.56708A>C (p.Asp18903Ala)
c.56705A>C (p.Asp18902Ala)
c.53747A>C (p.Asp17916Ala)
c.35363A>C (p.Asp11788Ala)
c.56858A>C (p.Asp18953Ala)
c.56855A>C (p.Asp18952Ala)
c.56288A>C (p.Asp18763Ala)
c.53630A>C (p.Asp17877Ala)
c.53549A>C (p.Asp17850Ala)
c.35312A>C (p.Asp11771Ala)
c.25166A>C (p.Asp8389Ala)
2g.178589308T=CA1310539400TTN,TTN-AS1c.54713A= (p.Asp18238=)
c.35798A= (p.Asp11933=)
c.35597A= (p.Asp11866=)
c.35222A= (p.Asp11741=)
c.62417A= (p.Asp20806=)
c.57494A= (p.Asp19165=)
n.597-8288T=
n.3189-1831T=
c.61514A= (p.Asp20505=)
c.35408A= (p.Asp11803=)
c.35267A= (p.Asp11756=)
c.61310A= (p.Asp20437=)
c.56708A= (p.Asp18903=)
c.56705A= (p.Asp18902=)
c.53747A= (p.Asp17916=)
c.35363A= (p.Asp11788=)
c.56858A= (p.Asp18953=)
c.56855A= (p.Asp18952=)
c.56288A= (p.Asp18763=)
c.53630A= (p.Asp17877=)
c.53549A= (p.Asp17850=)
c.35312A= (p.Asp11771=)
c.25166A= (p.Asp8389=)
2g.178589309C>ACA349464872TTN,TTN-AS1c.54712G>T (p.Asp18238Tyr)
c.35797G>T (p.Asp11933Tyr)
c.35596G>T (p.Asp11866Tyr)
c.35221G>T (p.Asp11741Tyr)
c.62416G>T (p.Asp20806Tyr)
c.57493G>T (p.Asp19165Tyr)
n.597-8287C>A
n.3189-1830C>A
c.61513G>T (p.Asp20505Tyr)
c.35407G>T (p.Asp11803Tyr)
c.35266G>T (p.Asp11756Tyr)
c.61309G>T (p.Asp20437Tyr)
c.56707G>T (p.Asp18903Tyr)
c.56704G>T (p.Asp18902Tyr)
c.53746G>T (p.Asp17916Tyr)
c.35362G>T (p.Asp11788Tyr)
c.56857G>T (p.Asp18953Tyr)
c.56854G>T (p.Asp18952Tyr)
c.56287G>T (p.Asp18763Tyr)
c.53629G>T (p.Asp17877Tyr)
c.53548G>T (p.Asp17850Tyr)
c.35311G>T (p.Asp11771Tyr)
c.25165G>T (p.Asp8389Tyr)
2g.178589309C>GCA349464873TTN,TTN-AS1c.54712G>C (p.Asp18238His)
c.35797G>C (p.Asp11933His)
c.35596G>C (p.Asp11866His)
c.35221G>C (p.Asp11741His)
c.62416G>C (p.Asp20806His)
c.57493G>C (p.Asp19165His)
n.597-8287C>G
n.3189-1830C>G
c.61513G>C (p.Asp20505His)
c.35407G>C (p.Asp11803His)
c.35266G>C (p.Asp11756His)
c.61309G>C (p.Asp20437His)
c.56707G>C (p.Asp18903His)
c.56704G>C (p.Asp18902His)
c.53746G>C (p.Asp17916His)
c.35362G>C (p.Asp11788His)
c.56857G>C (p.Asp18953His)
c.56854G>C (p.Asp18952His)
c.56287G>C (p.Asp18763His)
c.53629G>C (p.Asp17877His)
c.53548G>C (p.Asp17850His)
c.35311G>C (p.Asp11771His)
c.25165G>C (p.Asp8389His)
2g.178589309C>TCA349464874TTN,TTN-AS1c.54712G>A (p.Asp18238Asn)
c.35797G>A (p.Asp11933Asn)
c.35596G>A (p.Asp11866Asn)
c.35221G>A (p.Asp11741Asn)
c.62416G>A (p.Asp20806Asn)
c.57493G>A (p.Asp19165Asn)
n.597-8287C>T
n.3189-1830C>T
c.61513G>A (p.Asp20505Asn)
c.35407G>A (p.Asp11803Asn)
c.35266G>A (p.Asp11756Asn)
c.61309G>A (p.Asp20437Asn)
c.56707G>A (p.Asp18903Asn)
c.56704G>A (p.Asp18902Asn)
c.53746G>A (p.Asp17916Asn)
c.35362G>A (p.Asp11788Asn)
c.56857G>A (p.Asp18953Asn)
c.56854G>A (p.Asp18952Asn)
c.56287G>A (p.Asp18763Asn)
c.53629G>A (p.Asp17877Asn)
c.53548G>A (p.Asp17850Asn)
c.35311G>A (p.Asp11771Asn)
c.25165G>A (p.Asp8389Asn)
2g.178589310C>ACA349464875TTN,TTN-AS1c.54711G>T (p.Lys18237Asn)
c.35796G>T (p.Lys11932Asn)
c.35595G>T (p.Lys11865Asn)
c.35220G>T (p.Lys11740Asn)
c.62415G>T (p.Lys20805Asn)
c.57492G>T (p.Lys19164Asn)
n.597-8286C>A
n.3189-1829C>A
c.61512G>T (p.Lys20504Asn)
c.35406G>T (p.Lys11802Asn)
c.35265G>T (p.Lys11755Asn)
c.61308G>T (p.Lys20436Asn)
c.56706G>T (p.Lys18902Asn)
c.56703G>T (p.Lys18901Asn)
c.53745G>T (p.Lys17915Asn)
c.35361G>T (p.Lys11787Asn)
c.56856G>T (p.Lys18952Asn)
c.56853G>T (p.Lys18951Asn)
c.56286G>T (p.Lys18762Asn)
c.53628G>T (p.Lys17876Asn)
c.53547G>T (p.Lys17849Asn)
c.35310G>T (p.Lys11770Asn)
c.25164G>T (p.Lys8388Asn)
2g.178589310C>GCA349464876TTN,TTN-AS1c.54711G>C (p.Lys18237Asn)
c.35796G>C (p.Lys11932Asn)
c.35595G>C (p.Lys11865Asn)
c.35220G>C (p.Lys11740Asn)
c.62415G>C (p.Lys20805Asn)
c.57492G>C (p.Lys19164Asn)
n.597-8286C>G
n.3189-1829C>G
c.61512G>C (p.Lys20504Asn)
c.35406G>C (p.Lys11802Asn)
c.35265G>C (p.Lys11755Asn)
c.61308G>C (p.Lys20436Asn)
c.56706G>C (p.Lys18902Asn)
c.56703G>C (p.Lys18901Asn)
c.53745G>C (p.Lys17915Asn)
c.35361G>C (p.Lys11787Asn)
c.56856G>C (p.Lys18952Asn)
c.56853G>C (p.Lys18951Asn)
c.56286G>C (p.Lys18762Asn)
c.53628G>C (p.Lys17876Asn)
c.53547G>C (p.Lys17849Asn)
c.35310G>C (p.Lys11770Asn)
c.25164G>C (p.Lys8388Asn)
2g.178589310C>TCA430265295TTN,TTN-AS1c.54711G>A (p.Lys18237=)
c.35796G>A (p.Lys11932=)
c.35595G>A (p.Lys11865=)
c.35220G>A (p.Lys11740=)
c.62415G>A (p.Lys20805=)
c.57492G>A (p.Lys19164=)
n.597-8286C>T
n.3189-1829C>T
c.61512G>A (p.Lys20504=)
c.35406G>A (p.Lys11802=)
c.35265G>A (p.Lys11755=)
c.61308G>A (p.Lys20436=)
c.56706G>A (p.Lys18902=)
c.56703G>A (p.Lys18901=)
c.53745G>A (p.Lys17915=)
c.35361G>A (p.Lys11787=)
c.56856G>A (p.Lys18952=)
c.56853G>A (p.Lys18951=)
c.56286G>A (p.Lys18762=)
c.53628G>A (p.Lys17876=)
c.53547G>A (p.Lys17849=)
c.35310G>A (p.Lys11770=)
c.25164G>A (p.Lys8388=)
2g.178589311T>ACA349464877TTN,TTN-AS1c.54710A>T (p.Lys18237Met)
c.35795A>T (p.Lys11932Met)
c.35594A>T (p.Lys11865Met)
c.35219A>T (p.Lys11740Met)
c.62414A>T (p.Lys20805Met)
c.57491A>T (p.Lys19164Met)
n.597-8285T>A
n.3189-1828T>A
c.61511A>T (p.Lys20504Met)
c.35405A>T (p.Lys11802Met)
c.35264A>T (p.Lys11755Met)
c.61307A>T (p.Lys20436Met)
c.56705A>T (p.Lys18902Met)
c.56702A>T (p.Lys18901Met)
c.53744A>T (p.Lys17915Met)
c.35360A>T (p.Lys11787Met)
c.56855A>T (p.Lys18952Met)
c.56852A>T (p.Lys18951Met)
c.56285A>T (p.Lys18762Met)
c.53627A>T (p.Lys17876Met)
c.53546A>T (p.Lys17849Met)
c.35309A>T (p.Lys11770Met)
c.25163A>T (p.Lys8388Met)
2g.178589311T>CCA349464878TTN,TTN-AS1c.54710A>G (p.Lys18237Arg)
c.35795A>G (p.Lys11932Arg)
c.35594A>G (p.Lys11865Arg)
c.35219A>G (p.Lys11740Arg)
c.62414A>G (p.Lys20805Arg)
c.57491A>G (p.Lys19164Arg)
n.597-8285T>C
n.3189-1828T>C
c.61511A>G (p.Lys20504Arg)
c.35405A>G (p.Lys11802Arg)
c.35264A>G (p.Lys11755Arg)
c.61307A>G (p.Lys20436Arg)
c.56705A>G (p.Lys18902Arg)
c.56702A>G (p.Lys18901Arg)
c.53744A>G (p.Lys17915Arg)
c.35360A>G (p.Lys11787Arg)
c.56855A>G (p.Lys18952Arg)
c.56852A>G (p.Lys18951Arg)
c.56285A>G (p.Lys18762Arg)
c.53627A>G (p.Lys17876Arg)
c.53546A>G (p.Lys17849Arg)
c.35309A>G (p.Lys11770Arg)
c.25163A>G (p.Lys8388Arg)
 dbSNP gnomAD v4
2g.178589311T>GCA349464879TTN,TTN-AS1c.54710A>C (p.Lys18237Thr)
c.35795A>C (p.Lys11932Thr)
c.35594A>C (p.Lys11865Thr)
c.35219A>C (p.Lys11740Thr)
c.62414A>C (p.Lys20805Thr)
c.57491A>C (p.Lys19164Thr)
n.597-8285T>G
n.3189-1828T>G
c.61511A>C (p.Lys20504Thr)
c.35405A>C (p.Lys11802Thr)
c.35264A>C (p.Lys11755Thr)
c.61307A>C (p.Lys20436Thr)
c.56705A>C (p.Lys18902Thr)
c.56702A>C (p.Lys18901Thr)
c.53744A>C (p.Lys17915Thr)
c.35360A>C (p.Lys11787Thr)
c.56855A>C (p.Lys18952Thr)
c.56852A>C (p.Lys18951Thr)
c.56285A>C (p.Lys18762Thr)
c.53627A>C (p.Lys17876Thr)
c.53546A>C (p.Lys17849Thr)
c.35309A>C (p.Lys11770Thr)
c.25163A>C (p.Lys8388Thr)
2g.178589311T=CA1310539401TTN,TTN-AS1c.54710A= (p.Lys18237=)
c.35795A= (p.Lys11932=)
c.35594A= (p.Lys11865=)
c.35219A= (p.Lys11740=)
c.62414A= (p.Lys20805=)
c.57491A= (p.Lys19164=)
n.597-8285T=
n.3189-1828T=
c.61511A= (p.Lys20504=)
c.35405A= (p.Lys11802=)
c.35264A= (p.Lys11755=)
c.61307A= (p.Lys20436=)
c.56705A= (p.Lys18902=)
c.56702A= (p.Lys18901=)
c.53744A= (p.Lys17915=)
c.35360A= (p.Lys11787=)
c.56855A= (p.Lys18952=)
c.56852A= (p.Lys18951=)
c.56285A= (p.Lys18762=)
c.53627A= (p.Lys17876=)
c.53546A= (p.Lys17849=)
c.35309A= (p.Lys11770=)
c.25163A= (p.Lys8388=)
2g.178589312T>ACA349464880TTN,TTN-AS1c.54709A>T (p.Lys18237Ter)
c.35794A>T (p.Lys11932Ter)
c.35593A>T (p.Lys11865Ter)
c.35218A>T (p.Lys11740Ter)
c.62413A>T (p.Lys20805Ter)
c.57490A>T (p.Lys19164Ter)
n.597-8284T>A
n.3189-1827T>A
c.61510A>T (p.Lys20504Ter)
c.35404A>T (p.Lys11802Ter)
c.35263A>T (p.Lys11755Ter)
c.61306A>T (p.Lys20436Ter)
c.56704A>T (p.Lys18902Ter)
c.56701A>T (p.Lys18901Ter)
c.53743A>T (p.Lys17915Ter)
c.35359A>T (p.Lys11787Ter)
c.56854A>T (p.Lys18952Ter)
c.56851A>T (p.Lys18951Ter)
c.56284A>T (p.Lys18762Ter)
c.53626A>T (p.Lys17876Ter)
c.53545A>T (p.Lys17849Ter)
c.35308A>T (p.Lys11770Ter)
c.25162A>T (p.Lys8388Ter)
2g.178589312T>CCA349464884TTN,TTN-AS1c.54709A>G (p.Lys18237Glu)
c.35794A>G (p.Lys11932Glu)
c.35593A>G (p.Lys11865Glu)
c.35218A>G (p.Lys11740Glu)
c.62413A>G (p.Lys20805Glu)
c.57490A>G (p.Lys19164Glu)
n.597-8284T>C
n.3189-1827T>C
c.61510A>G (p.Lys20504Glu)
c.35404A>G (p.Lys11802Glu)
c.35263A>G (p.Lys11755Glu)
c.61306A>G (p.Lys20436Glu)
c.56704A>G (p.Lys18902Glu)
c.56701A>G (p.Lys18901Glu)
c.53743A>G (p.Lys17915Glu)
c.35359A>G (p.Lys11787Glu)
c.56854A>G (p.Lys18952Glu)
c.56851A>G (p.Lys18951Glu)
c.56284A>G (p.Lys18762Glu)
c.53626A>G (p.Lys17876Glu)
c.53545A>G (p.Lys17849Glu)
c.35308A>G (p.Lys11770Glu)
c.25162A>G (p.Lys8388Glu)
2g.178589312T>GCA349464882TTN,TTN-AS1c.54709A>C (p.Lys18237Gln)
c.35794A>C (p.Lys11932Gln)
c.35593A>C (p.Lys11865Gln)
c.35218A>C (p.Lys11740Gln)
c.62413A>C (p.Lys20805Gln)
c.57490A>C (p.Lys19164Gln)
n.597-8284T>G
n.3189-1827T>G
c.61510A>C (p.Lys20504Gln)
c.35404A>C (p.Lys11802Gln)
c.35263A>C (p.Lys11755Gln)
c.61306A>C (p.Lys20436Gln)
c.56704A>C (p.Lys18902Gln)
c.56701A>C (p.Lys18901Gln)
c.53743A>C (p.Lys17915Gln)
c.35359A>C (p.Lys11787Gln)
c.56854A>C (p.Lys18952Gln)
c.56851A>C (p.Lys18951Gln)
c.56284A>C (p.Lys18762Gln)
c.53626A>C (p.Lys17876Gln)
c.53545A>C (p.Lys17849Gln)
c.35308A>C (p.Lys11770Gln)
c.25162A>C (p.Lys8388Gln)
2g.178589313G>ACA430265302TTN,TTN-AS1c.54708C>T (p.Thr18236=)
c.35793C>T (p.Thr11931=)
c.35592C>T (p.Thr11864=)
c.35217C>T (p.Thr11739=)
c.62412C>T (p.Thr20804=)
c.57489C>T (p.Thr19163=)
n.597-8283G>A
n.3189-1826G>A
c.61509C>T (p.Thr20503=)
c.35403C>T (p.Thr11801=)
c.35262C>T (p.Thr11754=)
c.61305C>T (p.Thr20435=)
c.56703C>T (p.Thr18901=)
c.56700C>T (p.Thr18900=)
c.53742C>T (p.Thr17914=)
c.35358C>T (p.Thr11786=)
c.56853C>T (p.Thr18951=)
c.56850C>T (p.Thr18950=)
c.56283C>T (p.Thr18761=)
c.53625C>T (p.Thr17875=)
c.53544C>T (p.Thr17848=)
c.35307C>T (p.Thr11769=)
c.25161C>T (p.Thr8387=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178589313G>CCA430265303TTN,TTN-AS1c.54708C>G (p.Thr18236=)
c.35793C>G (p.Thr11931=)
c.35592C>G (p.Thr11864=)
c.35217C>G (p.Thr11739=)
c.62412C>G (p.Thr20804=)
c.57489C>G (p.Thr19163=)
n.597-8283G>C
n.3189-1826G>C
c.61509C>G (p.Thr20503=)
c.35403C>G (p.Thr11801=)
c.35262C>G (p.Thr11754=)
c.61305C>G (p.Thr20435=)
c.56703C>G (p.Thr18901=)
c.56700C>G (p.Thr18900=)
c.53742C>G (p.Thr17914=)
c.35358C>G (p.Thr11786=)
c.56853C>G (p.Thr18951=)
c.56850C>G (p.Thr18950=)
c.56283C>G (p.Thr18761=)
c.53625C>G (p.Thr17875=)
c.53544C>G (p.Thr17848=)
c.35307C>G (p.Thr11769=)
c.25161C>G (p.Thr8387=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178589313G=CA1310539403TTN,TTN-AS1c.54708C= (p.Thr18236=)
c.35793C= (p.Thr11931=)
c.35592C= (p.Thr11864=)
c.35217C= (p.Thr11739=)
c.62412C= (p.Thr20804=)
c.57489C= (p.Thr19163=)
n.597-8283G=
n.3189-1826G=
c.61509C= (p.Thr20503=)
c.35403C= (p.Thr11801=)
c.35262C= (p.Thr11754=)
c.61305C= (p.Thr20435=)
c.56703C= (p.Thr18901=)
c.56700C= (p.Thr18900=)
c.53742C= (p.Thr17914=)
c.35358C= (p.Thr11786=)
c.56853C= (p.Thr18951=)
c.56850C= (p.Thr18950=)
c.56283C= (p.Thr18761=)
c.53625C= (p.Thr17875=)
c.53544C= (p.Thr17848=)
c.35307C= (p.Thr11769=)
c.25161C= (p.Thr8387=)
2g.178589313G>TCA430265305TTN,TTN-AS1c.54708C>A (p.Thr18236=)
c.35793C>A (p.Thr11931=)
c.35592C>A (p.Thr11864=)
c.35217C>A (p.Thr11739=)
c.62412C>A (p.Thr20804=)
c.57489C>A (p.Thr19163=)
n.597-8283G>T
n.3189-1826G>T
c.61509C>A (p.Thr20503=)
c.35403C>A (p.Thr11801=)
c.35262C>A (p.Thr11754=)
c.61305C>A (p.Thr20435=)
c.56703C>A (p.Thr18901=)
c.56700C>A (p.Thr18900=)
c.53742C>A (p.Thr17914=)
c.35358C>A (p.Thr11786=)
c.56853C>A (p.Thr18951=)
c.56850C>A (p.Thr18950=)
c.56283C>A (p.Thr18761=)
c.53625C>A (p.Thr17875=)
c.53544C>A (p.Thr17848=)
c.35307C>A (p.Thr11769=)
c.25161C>A (p.Thr8387=)
2g.178589314G>ACA349464885TTN,TTN-AS1c.54707C>T (p.Thr18236Ile)
c.35792C>T (p.Thr11931Ile)
c.35591C>T (p.Thr11864Ile)
c.35216C>T (p.Thr11739Ile)
c.62411C>T (p.Thr20804Ile)
c.57488C>T (p.Thr19163Ile)
n.597-8282G>A
n.3189-1825G>A
c.61508C>T (p.Thr20503Ile)
c.35402C>T (p.Thr11801Ile)
c.35261C>T (p.Thr11754Ile)
c.61304C>T (p.Thr20435Ile)
c.56702C>T (p.Thr18901Ile)
c.56699C>T (p.Thr18900Ile)
c.53741C>T (p.Thr17914Ile)
c.35357C>T (p.Thr11786Ile)
c.56852C>T (p.Thr18951Ile)
c.56849C>T (p.Thr18950Ile)
c.56282C>T (p.Thr18761Ile)
c.53624C>T (p.Thr17875Ile)
c.53543C>T (p.Thr17848Ile)
c.35306C>T (p.Thr11769Ile)
c.25160C>T (p.Thr8387Ile)
 gnomAD v4
2g.178589314G>CCA349464886TTN,TTN-AS1c.54707C>G (p.Thr18236Ser)
c.35792C>G (p.Thr11931Ser)
c.35591C>G (p.Thr11864Ser)
c.35216C>G (p.Thr11739Ser)
c.62411C>G (p.Thr20804Ser)
c.57488C>G (p.Thr19163Ser)
n.597-8282G>C
n.3189-1825G>C
c.61508C>G (p.Thr20503Ser)
c.35402C>G (p.Thr11801Ser)
c.35261C>G (p.Thr11754Ser)
c.61304C>G (p.Thr20435Ser)
c.56702C>G (p.Thr18901Ser)
c.56699C>G (p.Thr18900Ser)
c.53741C>G (p.Thr17914Ser)
c.35357C>G (p.Thr11786Ser)
c.56852C>G (p.Thr18951Ser)
c.56849C>G (p.Thr18950Ser)
c.56282C>G (p.Thr18761Ser)
c.53624C>G (p.Thr17875Ser)
c.53543C>G (p.Thr17848Ser)
c.35306C>G (p.Thr11769Ser)
c.25160C>G (p.Thr8387Ser)
2g.178589314G=CA1310539404TTN,TTN-AS1c.54707C= (p.Thr18236=)
c.35792C= (p.Thr11931=)
c.35591C= (p.Thr11864=)
c.35216C= (p.Thr11739=)
c.62411C= (p.Thr20804=)
c.57488C= (p.Thr19163=)
n.597-8282G=
n.3189-1825G=
c.61508C= (p.Thr20503=)
c.35402C= (p.Thr11801=)
c.35261C= (p.Thr11754=)
c.61304C= (p.Thr20435=)
c.56702C= (p.Thr18901=)
c.56699C= (p.Thr18900=)
c.53741C= (p.Thr17914=)
c.35357C= (p.Thr11786=)
c.56852C= (p.Thr18951=)
c.56849C= (p.Thr18950=)
c.56282C= (p.Thr18761=)
c.53624C= (p.Thr17875=)
c.53543C= (p.Thr17848=)
c.35306C= (p.Thr11769=)
c.25160C= (p.Thr8387=)
2g.178589314G>TCA349464888TTN,TTN-AS1c.54707C>A (p.Thr18236Asn)
c.35792C>A (p.Thr11931Asn)
c.35591C>A (p.Thr11864Asn)
c.35216C>A (p.Thr11739Asn)
c.62411C>A (p.Thr20804Asn)
c.57488C>A (p.Thr19163Asn)
n.597-8282G>T
n.3189-1825G>T
c.61508C>A (p.Thr20503Asn)
c.35402C>A (p.Thr11801Asn)
c.35261C>A (p.Thr11754Asn)
c.61304C>A (p.Thr20435Asn)
c.56702C>A (p.Thr18901Asn)
c.56699C>A (p.Thr18900Asn)
c.53741C>A (p.Thr17914Asn)
c.35357C>A (p.Thr11786Asn)
c.56852C>A (p.Thr18951Asn)
c.56849C>A (p.Thr18950Asn)
c.56282C>A (p.Thr18761Asn)
c.53624C>A (p.Thr17875Asn)
c.53543C>A (p.Thr17848Asn)
c.35306C>A (p.Thr11769Asn)
c.25160C>A (p.Thr8387Asn)
 ClinVar dbSNP gnomAD v4
2g.178589315T>ACA349464889TTN,TTN-AS1c.54706A>T (p.Thr18236Ser)
c.35791A>T (p.Thr11931Ser)
c.35590A>T (p.Thr11864Ser)
c.35215A>T (p.Thr11739Ser)
c.62410A>T (p.Thr20804Ser)
c.57487A>T (p.Thr19163Ser)
n.597-8281T>A
n.3189-1824T>A
c.61507A>T (p.Thr20503Ser)
c.35401A>T (p.Thr11801Ser)
c.35260A>T (p.Thr11754Ser)
c.61303A>T (p.Thr20435Ser)
c.56701A>T (p.Thr18901Ser)
c.56698A>T (p.Thr18900Ser)
c.53740A>T (p.Thr17914Ser)
c.35356A>T (p.Thr11786Ser)
c.56851A>T (p.Thr18951Ser)
c.56848A>T (p.Thr18950Ser)
c.56281A>T (p.Thr18761Ser)
c.53623A>T (p.Thr17875Ser)
c.53542A>T (p.Thr17848Ser)
c.35305A>T (p.Thr11769Ser)
c.25159A>T (p.Thr8387Ser)
2g.178589315T>CCA349464890TTN,TTN-AS1c.54706A>G (p.Thr18236Ala)
c.35791A>G (p.Thr11931Ala)
c.35590A>G (p.Thr11864Ala)
c.35215A>G (p.Thr11739Ala)
c.62410A>G (p.Thr20804Ala)
c.57487A>G (p.Thr19163Ala)
n.597-8281T>C
n.3189-1824T>C
c.61507A>G (p.Thr20503Ala)
c.35401A>G (p.Thr11801Ala)
c.35260A>G (p.Thr11754Ala)
c.61303A>G (p.Thr20435Ala)
c.56701A>G (p.Thr18901Ala)
c.56698A>G (p.Thr18900Ala)
c.53740A>G (p.Thr17914Ala)
c.35356A>G (p.Thr11786Ala)
c.56851A>G (p.Thr18951Ala)
c.56848A>G (p.Thr18950Ala)
c.56281A>G (p.Thr18761Ala)
c.53623A>G (p.Thr17875Ala)
c.53542A>G (p.Thr17848Ala)
c.35305A>G (p.Thr11769Ala)
c.25159A>G (p.Thr8387Ala)
2g.178589315T>GCA1992231TTN,TTN-AS1c.54706A>C (p.Thr18236Pro)
c.35791A>C (p.Thr11931Pro)
c.35590A>C (p.Thr11864Pro)
c.35215A>C (p.Thr11739Pro)
c.62410A>C (p.Thr20804Pro)
c.57487A>C (p.Thr19163Pro)
n.597-8281T>G
n.3189-1824T>G
c.61507A>C (p.Thr20503Pro)
c.35401A>C (p.Thr11801Pro)
c.35260A>C (p.Thr11754Pro)
c.61303A>C (p.Thr20435Pro)
c.56701A>C (p.Thr18901Pro)
c.56698A>C (p.Thr18900Pro)
c.53740A>C (p.Thr17914Pro)
c.35356A>C (p.Thr11786Pro)
c.56851A>C (p.Thr18951Pro)
c.56848A>C (p.Thr18950Pro)
c.56281A>C (p.Thr18761Pro)
c.53623A>C (p.Thr17875Pro)
c.53542A>C (p.Thr17848Pro)
c.35305A>C (p.Thr11769Pro)
c.25159A>C (p.Thr8387Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178589315T=CA1310539406TTN,TTN-AS1c.54706A= (p.Thr18236=)
c.35791A= (p.Thr11931=)
c.35590A= (p.Thr11864=)
c.35215A= (p.Thr11739=)
c.62410A= (p.Thr20804=)
c.57487A= (p.Thr19163=)
n.597-8281T=
n.3189-1824T=
c.61507A= (p.Thr20503=)
c.35401A= (p.Thr11801=)
c.35260A= (p.Thr11754=)
c.61303A= (p.Thr20435=)
c.56701A= (p.Thr18901=)
c.56698A= (p.Thr18900=)
c.53740A= (p.Thr17914=)
c.35356A= (p.Thr11786=)
c.56851A= (p.Thr18951=)
c.56848A= (p.Thr18950=)
c.56281A= (p.Thr18761=)
c.53623A= (p.Thr17875=)
c.53542A= (p.Thr17848=)
c.35305A= (p.Thr11769=)
c.25159A= (p.Thr8387=)
2g.178589316C>ACA349464893TTN,TTN-AS1c.54705G>T (p.Trp18235Cys)
c.35790G>T (p.Trp11930Cys)
c.35589G>T (p.Trp11863Cys)
c.35214G>T (p.Trp11738Cys)
c.62409G>T (p.Trp20803Cys)
c.57486G>T (p.Trp19162Cys)
n.597-8280C>A
n.3189-1823C>A
c.61506G>T (p.Trp20502Cys)
c.35400G>T (p.Trp11800Cys)
c.35259G>T (p.Trp11753Cys)
c.61302G>T (p.Trp20434Cys)
c.56700G>T (p.Trp18900Cys)
c.56697G>T (p.Trp18899Cys)
c.53739G>T (p.Trp17913Cys)
c.35355G>T (p.Trp11785Cys)
c.56850G>T (p.Trp18950Cys)
c.56847G>T (p.Trp18949Cys)
c.56280G>T (p.Trp18760Cys)
c.53622G>T (p.Trp17874Cys)
c.53541G>T (p.Trp17847Cys)
c.35304G>T (p.Trp11768Cys)
c.25158G>T (p.Trp8386Cys)
2g.178589316C>GCA349464895TTN,TTN-AS1c.54705G>C (p.Trp18235Cys)
c.35790G>C (p.Trp11930Cys)
c.35589G>C (p.Trp11863Cys)
c.35214G>C (p.Trp11738Cys)
c.62409G>C (p.Trp20803Cys)
c.57486G>C (p.Trp19162Cys)
n.597-8280C>G
n.3189-1823C>G
c.61506G>C (p.Trp20502Cys)
c.35400G>C (p.Trp11800Cys)
c.35259G>C (p.Trp11753Cys)
c.61302G>C (p.Trp20434Cys)
c.56700G>C (p.Trp18900Cys)
c.56697G>C (p.Trp18899Cys)
c.53739G>C (p.Trp17913Cys)
c.35355G>C (p.Trp11785Cys)
c.56850G>C (p.Trp18950Cys)
c.56847G>C (p.Trp18949Cys)
c.56280G>C (p.Trp18760Cys)
c.53622G>C (p.Trp17874Cys)
c.53541G>C (p.Trp17847Cys)
c.35304G>C (p.Trp11768Cys)
c.25158G>C (p.Trp8386Cys)
2g.178589316C>TCA349464896TTN,TTN-AS1c.54705G>A (p.Trp18235Ter)
c.35790G>A (p.Trp11930Ter)
c.35589G>A (p.Trp11863Ter)
c.35214G>A (p.Trp11738Ter)
c.62409G>A (p.Trp20803Ter)
c.57486G>A (p.Trp19162Ter)
n.597-8280C>T
n.3189-1823C>T
c.61506G>A (p.Trp20502Ter)
c.35400G>A (p.Trp11800Ter)
c.35259G>A (p.Trp11753Ter)
c.61302G>A (p.Trp20434Ter)
c.56700G>A (p.Trp18900Ter)
c.56697G>A (p.Trp18899Ter)
c.53739G>A (p.Trp17913Ter)
c.35355G>A (p.Trp11785Ter)
c.56850G>A (p.Trp18950Ter)
c.56847G>A (p.Trp18949Ter)
c.56280G>A (p.Trp18760Ter)
c.53622G>A (p.Trp17874Ter)
c.53541G>A (p.Trp17847Ter)
c.35304G>A (p.Trp11768Ter)
c.25158G>A (p.Trp8386Ter)
 ClinVar
2g.178589317C>ACA349464898TTN,TTN-AS1c.54704G>T (p.Trp18235Leu)
c.35789G>T (p.Trp11930Leu)
c.35588G>T (p.Trp11863Leu)
c.35213G>T (p.Trp11738Leu)
c.62408G>T (p.Trp20803Leu)
c.57485G>T (p.Trp19162Leu)
n.597-8279C>A
n.3189-1822C>A
c.61505G>T (p.Trp20502Leu)
c.35399G>T (p.Trp11800Leu)
c.35258G>T (p.Trp11753Leu)
c.61301G>T (p.Trp20434Leu)
c.56699G>T (p.Trp18900Leu)
c.56696G>T (p.Trp18899Leu)
c.53738G>T (p.Trp17913Leu)
c.35354G>T (p.Trp11785Leu)
c.56849G>T (p.Trp18950Leu)
c.56846G>T (p.Trp18949Leu)
c.56279G>T (p.Trp18760Leu)
c.53621G>T (p.Trp17874Leu)
c.53540G>T (p.Trp17847Leu)
c.35303G>T (p.Trp11768Leu)
c.25157G>T (p.Trp8386Leu)
2g.178589317C>GCA349464900TTN,TTN-AS1c.54704G>C (p.Trp18235Ser)
c.35789G>C (p.Trp11930Ser)
c.35588G>C (p.Trp11863Ser)
c.35213G>C (p.Trp11738Ser)
c.62408G>C (p.Trp20803Ser)
c.57485G>C (p.Trp19162Ser)
n.597-8279C>G
n.3189-1822C>G
c.61505G>C (p.Trp20502Ser)
c.35399G>C (p.Trp11800Ser)
c.35258G>C (p.Trp11753Ser)
c.61301G>C (p.Trp20434Ser)
c.56699G>C (p.Trp18900Ser)
c.56696G>C (p.Trp18899Ser)
c.53738G>C (p.Trp17913Ser)
c.35354G>C (p.Trp11785Ser)
c.56849G>C (p.Trp18950Ser)
c.56846G>C (p.Trp18949Ser)
c.56279G>C (p.Trp18760Ser)
c.53621G>C (p.Trp17874Ser)
c.53540G>C (p.Trp17847Ser)
c.35303G>C (p.Trp11768Ser)
c.25157G>C (p.Trp8386Ser)
2g.178589317C>TCA349464901TTN,TTN-AS1c.54704G>A (p.Trp18235Ter)
c.35789G>A (p.Trp11930Ter)
c.35588G>A (p.Trp11863Ter)
c.35213G>A (p.Trp11738Ter)
c.62408G>A (p.Trp20803Ter)
c.57485G>A (p.Trp19162Ter)
n.597-8279C>T
n.3189-1822C>T
c.61505G>A (p.Trp20502Ter)
c.35399G>A (p.Trp11800Ter)
c.35258G>A (p.Trp11753Ter)
c.61301G>A (p.Trp20434Ter)
c.56699G>A (p.Trp18900Ter)
c.56696G>A (p.Trp18899Ter)
c.53738G>A (p.Trp17913Ter)
c.35354G>A (p.Trp11785Ter)
c.56849G>A (p.Trp18950Ter)
c.56846G>A (p.Trp18949Ter)
c.56279G>A (p.Trp18760Ter)
c.53621G>A (p.Trp17874Ter)
c.53540G>A (p.Trp17847Ter)
c.35303G>A (p.Trp11768Ter)
c.25157G>A (p.Trp8386Ter)
 ClinVar
2g.178589318A=CA1310539408TTN,TTN-AS1c.54703T= (p.Trp18235=)
c.35788T= (p.Trp11930=)
c.35587T= (p.Trp11863=)
c.35212T= (p.Trp11738=)
c.62407T= (p.Trp20803=)
c.57484T= (p.Trp19162=)
n.597-8278A=
n.3189-1821A=
c.61504T= (p.Trp20502=)
c.35398T= (p.Trp11800=)
c.35257T= (p.Trp11753=)
c.61300T= (p.Trp20434=)
c.56698T= (p.Trp18900=)
c.56695T= (p.Trp18899=)
c.53737T= (p.Trp17913=)
c.35353T= (p.Trp11785=)
c.56848T= (p.Trp18950=)
c.56845T= (p.Trp18949=)
c.56278T= (p.Trp18760=)
c.53620T= (p.Trp17874=)
c.53539T= (p.Trp17847=)
c.35302T= (p.Trp11768=)
c.25156T= (p.Trp8386=)
2g.178589318A>CCA349464905TTN,TTN-AS1c.54703T>G (p.Trp18235Gly)
c.35788T>G (p.Trp11930Gly)
c.35587T>G (p.Trp11863Gly)
c.35212T>G (p.Trp11738Gly)
c.62407T>G (p.Trp20803Gly)
c.57484T>G (p.Trp19162Gly)
n.597-8278A>C
n.3189-1821A>C
c.61504T>G (p.Trp20502Gly)
c.35398T>G (p.Trp11800Gly)
c.35257T>G (p.Trp11753Gly)
c.61300T>G (p.Trp20434Gly)
c.56698T>G (p.Trp18900Gly)
c.56695T>G (p.Trp18899Gly)
c.53737T>G (p.Trp17913Gly)
c.35353T>G (p.Trp11785Gly)
c.56848T>G (p.Trp18950Gly)
c.56845T>G (p.Trp18949Gly)
c.56278T>G (p.Trp18760Gly)
c.53620T>G (p.Trp17874Gly)
c.53539T>G (p.Trp17847Gly)
c.35302T>G (p.Trp11768Gly)
c.25156T>G (p.Trp8386Gly)
 gnomAD v4
2g.178589318A>GCA1992232TTN,TTN-AS1c.54703T>C (p.Trp18235Arg)
c.35788T>C (p.Trp11930Arg)
c.35587T>C (p.Trp11863Arg)
c.35212T>C (p.Trp11738Arg)
c.62407T>C (p.Trp20803Arg)
c.57484T>C (p.Trp19162Arg)
n.597-8278A>G
n.3189-1821A>G
c.61504T>C (p.Trp20502Arg)
c.35398T>C (p.Trp11800Arg)
c.35257T>C (p.Trp11753Arg)
c.61300T>C (p.Trp20434Arg)
c.56698T>C (p.Trp18900Arg)
c.56695T>C (p.Trp18899Arg)
c.53737T>C (p.Trp17913Arg)
c.35353T>C (p.Trp11785Arg)
c.56848T>C (p.Trp18950Arg)
c.56845T>C (p.Trp18949Arg)
c.56278T>C (p.Trp18760Arg)
c.53620T>C (p.Trp17874Arg)
c.53539T>C (p.Trp17847Arg)
c.35302T>C (p.Trp11768Arg)
c.25156T>C (p.Trp8386Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178589318A>TCA349464903TTN,TTN-AS1c.54703T>A (p.Trp18235Arg)
c.35788T>A (p.Trp11930Arg)
c.35587T>A (p.Trp11863Arg)
c.35212T>A (p.Trp11738Arg)
c.62407T>A (p.Trp20803Arg)
c.57484T>A (p.Trp19162Arg)
n.597-8278A>T
n.3189-1821A>T
c.61504T>A (p.Trp20502Arg)
c.35398T>A (p.Trp11800Arg)
c.35257T>A (p.Trp11753Arg)
c.61300T>A (p.Trp20434Arg)
c.56698T>A (p.Trp18900Arg)
c.56695T>A (p.Trp18899Arg)
c.53737T>A (p.Trp17913Arg)
c.35353T>A (p.Trp11785Arg)
c.56848T>A (p.Trp18950Arg)
c.56845T>A (p.Trp18949Arg)
c.56278T>A (p.Trp18760Arg)
c.53620T>A (p.Trp17874Arg)
c.53539T>A (p.Trp17847Arg)
c.35302T>A (p.Trp11768Arg)
c.25156T>A (p.Trp8386Arg)
2g.178589319T>ACA430265215TTN,TTN-AS1c.54702A>T (p.Ala18234=)
c.35787A>T (p.Ala11929=)
c.35586A>T (p.Ala11862=)
c.35211A>T (p.Ala11737=)
c.62406A>T (p.Ala20802=)
c.57483A>T (p.Ala19161=)
n.597-8277T>A
n.3189-1820T>A
c.61503A>T (p.Ala20501=)
c.35397A>T (p.Ala11799=)
c.35256A>T (p.Ala11752=)
c.61299A>T (p.Ala20433=)
c.56697A>T (p.Ala18899=)
c.56694A>T (p.Ala18898=)
c.53736A>T (p.Ala17912=)
c.35352A>T (p.Ala11784=)
c.56847A>T (p.Ala18949=)
c.56844A>T (p.Ala18948=)
c.56277A>T (p.Ala18759=)
c.53619A>T (p.Ala17873=)
c.53538A>T (p.Ala17846=)
c.35301A>T (p.Ala11767=)
c.25155A>T (p.Ala8385=)
2g.178589319T>CCA430265216TTN,TTN-AS1c.54702A>G (p.Ala18234=)
c.35787A>G (p.Ala11929=)
c.35586A>G (p.Ala11862=)
c.35211A>G (p.Ala11737=)
c.62406A>G (p.Ala20802=)
c.57483A>G (p.Ala19161=)
n.597-8277T>C
n.3189-1820T>C
c.61503A>G (p.Ala20501=)
c.35397A>G (p.Ala11799=)
c.35256A>G (p.Ala11752=)
c.61299A>G (p.Ala20433=)
c.56697A>G (p.Ala18899=)
c.56694A>G (p.Ala18898=)
c.53736A>G (p.Ala17912=)
c.35352A>G (p.Ala11784=)
c.56847A>G (p.Ala18949=)
c.56844A>G (p.Ala18948=)
c.56277A>G (p.Ala18759=)
c.53619A>G (p.Ala17873=)
c.53538A>G (p.Ala17846=)
c.35301A>G (p.Ala11767=)
c.25155A>G (p.Ala8385=)
2g.178589319T>GCA430265217TTN,TTN-AS1c.54702A>C (p.Ala18234=)
c.35787A>C (p.Ala11929=)
c.35586A>C (p.Ala11862=)
c.35211A>C (p.Ala11737=)
c.62406A>C (p.Ala20802=)
c.57483A>C (p.Ala19161=)
n.597-8277T>G
n.3189-1820T>G
c.61503A>C (p.Ala20501=)
c.35397A>C (p.Ala11799=)
c.35256A>C (p.Ala11752=)
c.61299A>C (p.Ala20433=)
c.56697A>C (p.Ala18899=)
c.56694A>C (p.Ala18898=)
c.53736A>C (p.Ala17912=)
c.35352A>C (p.Ala11784=)
c.56847A>C (p.Ala18949=)
c.56844A>C (p.Ala18948=)
c.56277A>C (p.Ala18759=)
c.53619A>C (p.Ala17873=)
c.53538A>C (p.Ala17846=)
c.35301A>C (p.Ala11767=)
c.25155A>C (p.Ala8385=)
2g.178589320G>ACA349464907TTN,TTN-AS1c.54701C>T (p.Ala18234Val)
c.35786C>T (p.Ala11929Val)
c.35585C>T (p.Ala11862Val)
c.35210C>T (p.Ala11737Val)
c.62405C>T (p.Ala20802Val)
c.57482C>T (p.Ala19161Val)
n.597-8276G>A
n.3189-1819G>A
c.61502C>T (p.Ala20501Val)
c.35396C>T (p.Ala11799Val)
c.35255C>T (p.Ala11752Val)
c.61298C>T (p.Ala20433Val)
c.56696C>T (p.Ala18899Val)
c.56693C>T (p.Ala18898Val)
c.53735C>T (p.Ala17912Val)
c.35351C>T (p.Ala11784Val)
c.56846C>T (p.Ala18949Val)
c.56843C>T (p.Ala18948Val)
c.56276C>T (p.Ala18759Val)
c.53618C>T (p.Ala17873Val)
c.53537C>T (p.Ala17846Val)
c.35300C>T (p.Ala11767Val)
c.25154C>T (p.Ala8385Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178589320G>CCA349464908TTN,TTN-AS1c.54701C>G (p.Ala18234Gly)
c.35786C>G (p.Ala11929Gly)
c.35585C>G (p.Ala11862Gly)
c.35210C>G (p.Ala11737Gly)
c.62405C>G (p.Ala20802Gly)
c.57482C>G (p.Ala19161Gly)
n.597-8276G>C
n.3189-1819G>C
c.61502C>G (p.Ala20501Gly)
c.35396C>G (p.Ala11799Gly)
c.35255C>G (p.Ala11752Gly)
c.61298C>G (p.Ala20433Gly)
c.56696C>G (p.Ala18899Gly)
c.56693C>G (p.Ala18898Gly)
c.53735C>G (p.Ala17912Gly)
c.35351C>G (p.Ala11784Gly)
c.56846C>G (p.Ala18949Gly)
c.56843C>G (p.Ala18948Gly)
c.56276C>G (p.Ala18759Gly)
c.53618C>G (p.Ala17873Gly)
c.53537C>G (p.Ala17846Gly)
c.35300C>G (p.Ala11767Gly)
c.25154C>G (p.Ala8385Gly)
2g.178589320G=CA1310539409TTN,TTN-AS1c.54701C= (p.Ala18234=)
c.35786C= (p.Ala11929=)
c.35585C= (p.Ala11862=)
c.35210C= (p.Ala11737=)
c.62405C= (p.Ala20802=)
c.57482C= (p.Ala19161=)
n.597-8276G=
n.3189-1819G=
c.61502C= (p.Ala20501=)
c.35396C= (p.Ala11799=)
c.35255C= (p.Ala11752=)
c.61298C= (p.Ala20433=)
c.56696C= (p.Ala18899=)
c.56693C= (p.Ala18898=)
c.53735C= (p.Ala17912=)
c.35351C= (p.Ala11784=)
c.56846C= (p.Ala18949=)
c.56843C= (p.Ala18948=)
c.56276C= (p.Ala18759=)
c.53618C= (p.Ala17873=)
c.53537C= (p.Ala17846=)
c.35300C= (p.Ala11767=)
c.25154C= (p.Ala8385=)
2g.178589320G>TCA349464909TTN,TTN-AS1c.54701C>A (p.Ala18234Glu)
c.35786C>A (p.Ala11929Glu)
c.35585C>A (p.Ala11862Glu)
c.35210C>A (p.Ala11737Glu)
c.62405C>A (p.Ala20802Glu)
c.57482C>A (p.Ala19161Glu)
n.597-8276G>T
n.3189-1819G>T
c.61502C>A (p.Ala20501Glu)
c.35396C>A (p.Ala11799Glu)
c.35255C>A (p.Ala11752Glu)
c.61298C>A (p.Ala20433Glu)
c.56696C>A (p.Ala18899Glu)
c.56693C>A (p.Ala18898Glu)
c.53735C>A (p.Ala17912Glu)
c.35351C>A (p.Ala11784Glu)
c.56846C>A (p.Ala18949Glu)
c.56843C>A (p.Ala18948Glu)
c.56276C>A (p.Ala18759Glu)
c.53618C>A (p.Ala17873Glu)
c.53537C>A (p.Ala17846Glu)
c.35300C>A (p.Ala11767Glu)
c.25154C>A (p.Ala8385Glu)
2g.178589321C>ACA349464910TTN,TTN-AS1c.54700G>T (p.Ala18234Ser)
c.35785G>T (p.Ala11929Ser)
c.35584G>T (p.Ala11862Ser)
c.35209G>T (p.Ala11737Ser)
c.62404G>T (p.Ala20802Ser)
c.57481G>T (p.Ala19161Ser)
n.597-8275C>A
n.3189-1818C>A
c.61501G>T (p.Ala20501Ser)
c.35395G>T (p.Ala11799Ser)
c.35254G>T (p.Ala11752Ser)
c.61297G>T (p.Ala20433Ser)
c.56695G>T (p.Ala18899Ser)
c.56692G>T (p.Ala18898Ser)
c.53734G>T (p.Ala17912Ser)
c.35350G>T (p.Ala11784Ser)
c.56845G>T (p.Ala18949Ser)
c.56842G>T (p.Ala18948Ser)
c.56275G>T (p.Ala18759Ser)
c.53617G>T (p.Ala17873Ser)
c.53536G>T (p.Ala17846Ser)
c.35299G>T (p.Ala11767Ser)
c.25153G>T (p.Ala8385Ser)
2g.178589321C>GCA349464911TTN,TTN-AS1c.54700G>C (p.Ala18234Pro)
c.35785G>C (p.Ala11929Pro)
c.35584G>C (p.Ala11862Pro)
c.35209G>C (p.Ala11737Pro)
c.62404G>C (p.Ala20802Pro)
c.57481G>C (p.Ala19161Pro)
n.597-8275C>G
n.3189-1818C>G
c.61501G>C (p.Ala20501Pro)
c.35395G>C (p.Ala11799Pro)
c.35254G>C (p.Ala11752Pro)
c.61297G>C (p.Ala20433Pro)
c.56695G>C (p.Ala18899Pro)
c.56692G>C (p.Ala18898Pro)
c.53734G>C (p.Ala17912Pro)
c.35350G>C (p.Ala11784Pro)
c.56845G>C (p.Ala18949Pro)
c.56842G>C (p.Ala18948Pro)
c.56275G>C (p.Ala18759Pro)
c.53617G>C (p.Ala17873Pro)
c.53536G>C (p.Ala17846Pro)
c.35299G>C (p.Ala11767Pro)
c.25153G>C (p.Ala8385Pro)

Number of alleles fetched