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.178589408G>ACA430265484TTN,TTN-AS1c.54613C>T (p.Leu18205=)
c.35698C>T (p.Leu11900=)
c.35497C>T (p.Leu11833=)
c.35122C>T (p.Leu11708=)
c.62317C>T (p.Leu20773=)
c.57394C>T (p.Leu19132=)
n.597-8188G>A
n.3189-1731G>A
c.61414C>T (p.Leu20472=)
c.35308C>T (p.Leu11770=)
c.35167C>T (p.Leu11723=)
c.61210C>T (p.Leu20404=)
c.56608C>T (p.Leu18870=)
c.56605C>T (p.Leu18869=)
c.53647C>T (p.Leu17883=)
c.35263C>T (p.Leu11755=)
c.56758C>T (p.Leu18920=)
c.56755C>T (p.Leu18919=)
c.56188C>T (p.Leu18730=)
c.53530C>T (p.Leu17844=)
c.53449C>T (p.Leu17817=)
c.35212C>T (p.Leu11738=)
c.25066C>T (p.Leu8356=)
 ClinVar dbSNP gnomAD v4
2g.178589408G>CCA349465190TTN,TTN-AS1c.54613C>G (p.Leu18205Val)
c.35698C>G (p.Leu11900Val)
c.35497C>G (p.Leu11833Val)
c.35122C>G (p.Leu11708Val)
c.62317C>G (p.Leu20773Val)
c.57394C>G (p.Leu19132Val)
n.597-8188G>C
n.3189-1731G>C
c.61414C>G (p.Leu20472Val)
c.35308C>G (p.Leu11770Val)
c.35167C>G (p.Leu11723Val)
c.61210C>G (p.Leu20404Val)
c.56608C>G (p.Leu18870Val)
c.56605C>G (p.Leu18869Val)
c.53647C>G (p.Leu17883Val)
c.35263C>G (p.Leu11755Val)
c.56758C>G (p.Leu18920Val)
c.56755C>G (p.Leu18919Val)
c.56188C>G (p.Leu18730Val)
c.53530C>G (p.Leu17844Val)
c.53449C>G (p.Leu17817Val)
c.35212C>G (p.Leu11738Val)
c.25066C>G (p.Leu8356Val)
 dbSNP gnomAD v4
2g.178589408G=CA1310539457TTN,TTN-AS1c.54613C= (p.Leu18205=)
c.35698C= (p.Leu11900=)
c.35497C= (p.Leu11833=)
c.35122C= (p.Leu11708=)
c.62317C= (p.Leu20773=)
c.57394C= (p.Leu19132=)
n.597-8188G=
n.3189-1731G=
c.61414C= (p.Leu20472=)
c.35308C= (p.Leu11770=)
c.35167C= (p.Leu11723=)
c.61210C= (p.Leu20404=)
c.56608C= (p.Leu18870=)
c.56605C= (p.Leu18869=)
c.53647C= (p.Leu17883=)
c.35263C= (p.Leu11755=)
c.56758C= (p.Leu18920=)
c.56755C= (p.Leu18919=)
c.56188C= (p.Leu18730=)
c.53530C= (p.Leu17844=)
c.53449C= (p.Leu17817=)
c.35212C= (p.Leu11738=)
c.25066C= (p.Leu8356=)
2g.178589408G>TCA309064TTN,TTN-AS1c.54613C>A (p.Leu18205Met)
c.35698C>A (p.Leu11900Met)
c.35497C>A (p.Leu11833Met)
c.35122C>A (p.Leu11708Met)
c.62317C>A (p.Leu20773Met)
c.57394C>A (p.Leu19132Met)
n.597-8188G>T
n.3189-1731G>T
c.61414C>A (p.Leu20472Met)
c.35308C>A (p.Leu11770Met)
c.35167C>A (p.Leu11723Met)
c.61210C>A (p.Leu20404Met)
c.56608C>A (p.Leu18870Met)
c.56605C>A (p.Leu18869Met)
c.53647C>A (p.Leu17883Met)
c.35263C>A (p.Leu11755Met)
c.56758C>A (p.Leu18920Met)
c.56755C>A (p.Leu18919Met)
c.56188C>A (p.Leu18730Met)
c.53530C>A (p.Leu17844Met)
c.53449C>A (p.Leu17817Met)
c.35212C>A (p.Leu11738Met)
c.25066C>A (p.Leu8356Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178589409A>CCA349465193TTN,TTN-AS1c.54612T>G (p.Asp18204Glu)
c.35697T>G (p.Asp11899Glu)
c.35496T>G (p.Asp11832Glu)
c.35121T>G (p.Asp11707Glu)
c.62316T>G (p.Asp20772Glu)
c.57393T>G (p.Asp19131Glu)
n.597-8187A>C
n.3189-1730A>C
c.61413T>G (p.Asp20471Glu)
c.35307T>G (p.Asp11769Glu)
c.35166T>G (p.Asp11722Glu)
c.61209T>G (p.Asp20403Glu)
c.56607T>G (p.Asp18869Glu)
c.56604T>G (p.Asp18868Glu)
c.53646T>G (p.Asp17882Glu)
c.35262T>G (p.Asp11754Glu)
c.56757T>G (p.Asp18919Glu)
c.56754T>G (p.Asp18918Glu)
c.56187T>G (p.Asp18729Glu)
c.53529T>G (p.Asp17843Glu)
c.53448T>G (p.Asp17816Glu)
c.35211T>G (p.Asp11737Glu)
c.25065T>G (p.Asp8355Glu)
2g.178589409A>GCA430265489TTN,TTN-AS1c.54612T>C (p.Asp18204=)
c.35697T>C (p.Asp11899=)
c.35496T>C (p.Asp11832=)
c.35121T>C (p.Asp11707=)
c.62316T>C (p.Asp20772=)
c.57393T>C (p.Asp19131=)
n.597-8187A>G
n.3189-1730A>G
c.61413T>C (p.Asp20471=)
c.35307T>C (p.Asp11769=)
c.35166T>C (p.Asp11722=)
c.61209T>C (p.Asp20403=)
c.56607T>C (p.Asp18869=)
c.56604T>C (p.Asp18868=)
c.53646T>C (p.Asp17882=)
c.35262T>C (p.Asp11754=)
c.56757T>C (p.Asp18919=)
c.56754T>C (p.Asp18918=)
c.56187T>C (p.Asp18729=)
c.53529T>C (p.Asp17843=)
c.53448T>C (p.Asp17816=)
c.35211T>C (p.Asp11737=)
c.25065T>C (p.Asp8355=)
2g.178589409A>TCA349465194TTN,TTN-AS1c.54612T>A (p.Asp18204Glu)
c.35697T>A (p.Asp11899Glu)
c.35496T>A (p.Asp11832Glu)
c.35121T>A (p.Asp11707Glu)
c.62316T>A (p.Asp20772Glu)
c.57393T>A (p.Asp19131Glu)
n.597-8187A>T
n.3189-1730A>T
c.61413T>A (p.Asp20471Glu)
c.35307T>A (p.Asp11769Glu)
c.35166T>A (p.Asp11722Glu)
c.61209T>A (p.Asp20403Glu)
c.56607T>A (p.Asp18869Glu)
c.56604T>A (p.Asp18868Glu)
c.53646T>A (p.Asp17882Glu)
c.35262T>A (p.Asp11754Glu)
c.56757T>A (p.Asp18919Glu)
c.56754T>A (p.Asp18918Glu)
c.56187T>A (p.Asp18729Glu)
c.53529T>A (p.Asp17843Glu)
c.53448T>A (p.Asp17816Glu)
c.35211T>A (p.Asp11737Glu)
c.25065T>A (p.Asp8355Glu)
2g.178589409_178589413delCA2586965313TTN,TTN-AS1c.54608_54612del (p.Leu18203ProfsTer16)
c.35693_35697del (p.Leu11898ProfsTer16)
c.35492_35496del (p.Leu11831ProfsTer16)
c.35117_35121del (p.Leu11706ProfsTer16)
c.62312_62316del (p.Leu20771ProfsTer16)
c.57389_57393del (p.Leu19130ProfsTer16)
n.597-8187_597-8183del
n.3189-1730_3189-1726del
c.61409_61413del (p.Leu20470ProfsTer16)
c.35303_35307del (p.Leu11768ProfsTer16)
c.35162_35166del (p.Leu11721ProfsTer16)
c.61205_61209del (p.Leu20402ProfsTer16)
c.56603_56607del (p.Leu18868ProfsTer16)
c.56600_56604del (p.Leu18867ProfsTer16)
c.53642_53646del (p.Leu17881ProfsTer16)
c.35258_35262del (p.Leu11753ProfsTer16)
c.56753_56757del (p.Leu18918ProfsTer16)
c.56750_56754del (p.Leu18917ProfsTer16)
c.56183_56187del (p.Leu18728ProfsTer16)
c.53525_53529del (p.Leu17842ProfsTer16)
c.53444_53448del (p.Leu17815ProfsTer16)
c.35207_35211del (p.Leu11736ProfsTer16)
c.25061_25065del (p.Leu8354ProfsTer16)
2g.178589410T>ACA349465196TTN,TTN-AS1c.54611A>T (p.Asp18204Val)
c.35696A>T (p.Asp11899Val)
c.35495A>T (p.Asp11832Val)
c.35120A>T (p.Asp11707Val)
c.62315A>T (p.Asp20772Val)
c.57392A>T (p.Asp19131Val)
n.597-8186T>A
n.3189-1729T>A
c.61412A>T (p.Asp20471Val)
c.35306A>T (p.Asp11769Val)
c.35165A>T (p.Asp11722Val)
c.61208A>T (p.Asp20403Val)
c.56606A>T (p.Asp18869Val)
c.56603A>T (p.Asp18868Val)
c.53645A>T (p.Asp17882Val)
c.35261A>T (p.Asp11754Val)
c.56756A>T (p.Asp18919Val)
c.56753A>T (p.Asp18918Val)
c.56186A>T (p.Asp18729Val)
c.53528A>T (p.Asp17843Val)
c.53447A>T (p.Asp17816Val)
c.35210A>T (p.Asp11737Val)
c.25064A>T (p.Asp8355Val)
2g.178589410T>CCA349465198TTN,TTN-AS1c.54611A>G (p.Asp18204Gly)
c.35696A>G (p.Asp11899Gly)
c.35495A>G (p.Asp11832Gly)
c.35120A>G (p.Asp11707Gly)
c.62315A>G (p.Asp20772Gly)
c.57392A>G (p.Asp19131Gly)
n.597-8186T>C
n.3189-1729T>C
c.61412A>G (p.Asp20471Gly)
c.35306A>G (p.Asp11769Gly)
c.35165A>G (p.Asp11722Gly)
c.61208A>G (p.Asp20403Gly)
c.56606A>G (p.Asp18869Gly)
c.56603A>G (p.Asp18868Gly)
c.53645A>G (p.Asp17882Gly)
c.35261A>G (p.Asp11754Gly)
c.56756A>G (p.Asp18919Gly)
c.56753A>G (p.Asp18918Gly)
c.56186A>G (p.Asp18729Gly)
c.53528A>G (p.Asp17843Gly)
c.53447A>G (p.Asp17816Gly)
c.35210A>G (p.Asp11737Gly)
c.25064A>G (p.Asp8355Gly)
2g.178589410T>GCA349465199TTN,TTN-AS1c.54611A>C (p.Asp18204Ala)
c.35696A>C (p.Asp11899Ala)
c.35495A>C (p.Asp11832Ala)
c.35120A>C (p.Asp11707Ala)
c.62315A>C (p.Asp20772Ala)
c.57392A>C (p.Asp19131Ala)
n.597-8186T>G
n.3189-1729T>G
c.61412A>C (p.Asp20471Ala)
c.35306A>C (p.Asp11769Ala)
c.35165A>C (p.Asp11722Ala)
c.61208A>C (p.Asp20403Ala)
c.56606A>C (p.Asp18869Ala)
c.56603A>C (p.Asp18868Ala)
c.53645A>C (p.Asp17882Ala)
c.35261A>C (p.Asp11754Ala)
c.56756A>C (p.Asp18919Ala)
c.56753A>C (p.Asp18918Ala)
c.56186A>C (p.Asp18729Ala)
c.53528A>C (p.Asp17843Ala)
c.53447A>C (p.Asp17816Ala)
c.35210A>C (p.Asp11737Ala)
c.25064A>C (p.Asp8355Ala)
2g.178589411C>ACA349465201TTN,TTN-AS1c.54610G>T (p.Asp18204Tyr)
c.35695G>T (p.Asp11899Tyr)
c.35494G>T (p.Asp11832Tyr)
c.35119G>T (p.Asp11707Tyr)
c.62314G>T (p.Asp20772Tyr)
c.57391G>T (p.Asp19131Tyr)
n.597-8185C>A
n.3189-1728C>A
c.61411G>T (p.Asp20471Tyr)
c.35305G>T (p.Asp11769Tyr)
c.35164G>T (p.Asp11722Tyr)
c.61207G>T (p.Asp20403Tyr)
c.56605G>T (p.Asp18869Tyr)
c.56602G>T (p.Asp18868Tyr)
c.53644G>T (p.Asp17882Tyr)
c.35260G>T (p.Asp11754Tyr)
c.56755G>T (p.Asp18919Tyr)
c.56752G>T (p.Asp18918Tyr)
c.56185G>T (p.Asp18729Tyr)
c.53527G>T (p.Asp17843Tyr)
c.53446G>T (p.Asp17816Tyr)
c.35209G>T (p.Asp11737Tyr)
c.25063G>T (p.Asp8355Tyr)
2g.178589411C=CA1310539459TTN,TTN-AS1c.54610G= (p.Asp18204=)
c.35695G= (p.Asp11899=)
c.35494G= (p.Asp11832=)
c.35119G= (p.Asp11707=)
c.62314G= (p.Asp20772=)
c.57391G= (p.Asp19131=)
n.597-8185C=
n.3189-1728C=
c.61411G= (p.Asp20471=)
c.35305G= (p.Asp11769=)
c.35164G= (p.Asp11722=)
c.61207G= (p.Asp20403=)
c.56605G= (p.Asp18869=)
c.56602G= (p.Asp18868=)
c.53644G= (p.Asp17882=)
c.35260G= (p.Asp11754=)
c.56755G= (p.Asp18919=)
c.56752G= (p.Asp18918=)
c.56185G= (p.Asp18729=)
c.53527G= (p.Asp17843=)
c.53446G= (p.Asp17816=)
c.35209G= (p.Asp11737=)
c.25063G= (p.Asp8355=)
2g.178589411C>GCA349465203TTN,TTN-AS1c.54610G>C (p.Asp18204His)
c.35695G>C (p.Asp11899His)
c.35494G>C (p.Asp11832His)
c.35119G>C (p.Asp11707His)
c.62314G>C (p.Asp20772His)
c.57391G>C (p.Asp19131His)
n.597-8185C>G
n.3189-1728C>G
c.61411G>C (p.Asp20471His)
c.35305G>C (p.Asp11769His)
c.35164G>C (p.Asp11722His)
c.61207G>C (p.Asp20403His)
c.56605G>C (p.Asp18869His)
c.56602G>C (p.Asp18868His)
c.53644G>C (p.Asp17882His)
c.35260G>C (p.Asp11754His)
c.56755G>C (p.Asp18919His)
c.56752G>C (p.Asp18918His)
c.56185G>C (p.Asp18729His)
c.53527G>C (p.Asp17843His)
c.53446G>C (p.Asp17816His)
c.35209G>C (p.Asp11737His)
c.25063G>C (p.Asp8355His)
2g.178589411C>TCA60967262TTN,TTN-AS1c.54610G>A (p.Asp18204Asn)
c.35695G>A (p.Asp11899Asn)
c.35494G>A (p.Asp11832Asn)
c.35119G>A (p.Asp11707Asn)
c.62314G>A (p.Asp20772Asn)
c.57391G>A (p.Asp19131Asn)
n.597-8185C>T
n.3189-1728C>T
c.61411G>A (p.Asp20471Asn)
c.35305G>A (p.Asp11769Asn)
c.35164G>A (p.Asp11722Asn)
c.61207G>A (p.Asp20403Asn)
c.56605G>A (p.Asp18869Asn)
c.56602G>A (p.Asp18868Asn)
c.53644G>A (p.Asp17882Asn)
c.35260G>A (p.Asp11754Asn)
c.56755G>A (p.Asp18919Asn)
c.56752G>A (p.Asp18918Asn)
c.56185G>A (p.Asp18729Asn)
c.53527G>A (p.Asp17843Asn)
c.53446G>A (p.Asp17816Asn)
c.35209G>A (p.Asp11737Asn)
c.25063G>A (p.Asp8355Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178589412A>CCA430265498TTN,TTN-AS1c.54609T>G (p.Leu18203=)
c.35694T>G (p.Leu11898=)
c.35493T>G (p.Leu11831=)
c.35118T>G (p.Leu11706=)
c.62313T>G (p.Leu20771=)
c.57390T>G (p.Leu19130=)
n.597-8184A>C
n.3189-1727A>C
c.61410T>G (p.Leu20470=)
c.35304T>G (p.Leu11768=)
c.35163T>G (p.Leu11721=)
c.61206T>G (p.Leu20402=)
c.56604T>G (p.Leu18868=)
c.56601T>G (p.Leu18867=)
c.53643T>G (p.Leu17881=)
c.35259T>G (p.Leu11753=)
c.56754T>G (p.Leu18918=)
c.56751T>G (p.Leu18917=)
c.56184T>G (p.Leu18728=)
c.53526T>G (p.Leu17842=)
c.53445T>G (p.Leu17815=)
c.35208T>G (p.Leu11736=)
c.25062T>G (p.Leu8354=)
2g.178589412A>GCA430265494TTN,TTN-AS1c.54609T>C (p.Leu18203=)
c.35694T>C (p.Leu11898=)
c.35493T>C (p.Leu11831=)
c.35118T>C (p.Leu11706=)
c.62313T>C (p.Leu20771=)
c.57390T>C (p.Leu19130=)
n.597-8184A>G
n.3189-1727A>G
c.61410T>C (p.Leu20470=)
c.35304T>C (p.Leu11768=)
c.35163T>C (p.Leu11721=)
c.61206T>C (p.Leu20402=)
c.56604T>C (p.Leu18868=)
c.56601T>C (p.Leu18867=)
c.53643T>C (p.Leu17881=)
c.35259T>C (p.Leu11753=)
c.56754T>C (p.Leu18918=)
c.56751T>C (p.Leu18917=)
c.56184T>C (p.Leu18728=)
c.53526T>C (p.Leu17842=)
c.53445T>C (p.Leu17815=)
c.35208T>C (p.Leu11736=)
c.25062T>C (p.Leu8354=)
2g.178589412A>TCA430265496TTN,TTN-AS1c.54609T>A (p.Leu18203=)
c.35694T>A (p.Leu11898=)
c.35493T>A (p.Leu11831=)
c.35118T>A (p.Leu11706=)
c.62313T>A (p.Leu20771=)
c.57390T>A (p.Leu19130=)
n.597-8184A>T
n.3189-1727A>T
c.61410T>A (p.Leu20470=)
c.35304T>A (p.Leu11768=)
c.35163T>A (p.Leu11721=)
c.61206T>A (p.Leu20402=)
c.56604T>A (p.Leu18868=)
c.56601T>A (p.Leu18867=)
c.53643T>A (p.Leu17881=)
c.35259T>A (p.Leu11753=)
c.56754T>A (p.Leu18918=)
c.56751T>A (p.Leu18917=)
c.56184T>A (p.Leu18728=)
c.53526T>A (p.Leu17842=)
c.53445T>A (p.Leu17815=)
c.35208T>A (p.Leu11736=)
c.25062T>A (p.Leu8354=)
2g.178589413A=CA1310539461TTN,TTN-AS1c.54608T= (p.Leu18203=)
c.35693T= (p.Leu11898=)
c.35492T= (p.Leu11831=)
c.35117T= (p.Leu11706=)
c.62312T= (p.Leu20771=)
c.57389T= (p.Leu19130=)
n.597-8183A=
n.3189-1726A=
c.61409T= (p.Leu20470=)
c.35303T= (p.Leu11768=)
c.35162T= (p.Leu11721=)
c.61205T= (p.Leu20402=)
c.56603T= (p.Leu18868=)
c.56600T= (p.Leu18867=)
c.53642T= (p.Leu17881=)
c.35258T= (p.Leu11753=)
c.56753T= (p.Leu18918=)
c.56750T= (p.Leu18917=)
c.56183T= (p.Leu18728=)
c.53525T= (p.Leu17842=)
c.53444T= (p.Leu17815=)
c.35207T= (p.Leu11736=)
c.25061T= (p.Leu8354=)
2g.178589413A>CCA349465205TTN,TTN-AS1c.54608T>G (p.Leu18203Arg)
c.35693T>G (p.Leu11898Arg)
c.35492T>G (p.Leu11831Arg)
c.35117T>G (p.Leu11706Arg)
c.62312T>G (p.Leu20771Arg)
c.57389T>G (p.Leu19130Arg)
n.597-8183A>C
n.3189-1726A>C
c.61409T>G (p.Leu20470Arg)
c.35303T>G (p.Leu11768Arg)
c.35162T>G (p.Leu11721Arg)
c.61205T>G (p.Leu20402Arg)
c.56603T>G (p.Leu18868Arg)
c.56600T>G (p.Leu18867Arg)
c.53642T>G (p.Leu17881Arg)
c.35258T>G (p.Leu11753Arg)
c.56753T>G (p.Leu18918Arg)
c.56750T>G (p.Leu18917Arg)
c.56183T>G (p.Leu18728Arg)
c.53525T>G (p.Leu17842Arg)
c.53444T>G (p.Leu17815Arg)
c.35207T>G (p.Leu11736Arg)
c.25061T>G (p.Leu8354Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178589413A>GCA349465208TTN,TTN-AS1c.54608T>C (p.Leu18203Pro)
c.35693T>C (p.Leu11898Pro)
c.35492T>C (p.Leu11831Pro)
c.35117T>C (p.Leu11706Pro)
c.62312T>C (p.Leu20771Pro)
c.57389T>C (p.Leu19130Pro)
n.597-8183A>G
n.3189-1726A>G
c.61409T>C (p.Leu20470Pro)
c.35303T>C (p.Leu11768Pro)
c.35162T>C (p.Leu11721Pro)
c.61205T>C (p.Leu20402Pro)
c.56603T>C (p.Leu18868Pro)
c.56600T>C (p.Leu18867Pro)
c.53642T>C (p.Leu17881Pro)
c.35258T>C (p.Leu11753Pro)
c.56753T>C (p.Leu18918Pro)
c.56750T>C (p.Leu18917Pro)
c.56183T>C (p.Leu18728Pro)
c.53525T>C (p.Leu17842Pro)
c.53444T>C (p.Leu17815Pro)
c.35207T>C (p.Leu11736Pro)
c.25061T>C (p.Leu8354Pro)
2g.178589413A>TCA349465207TTN,TTN-AS1c.54608T>A (p.Leu18203His)
c.35693T>A (p.Leu11898His)
c.35492T>A (p.Leu11831His)
c.35117T>A (p.Leu11706His)
c.62312T>A (p.Leu20771His)
c.57389T>A (p.Leu19130His)
n.597-8183A>T
n.3189-1726A>T
c.61409T>A (p.Leu20470His)
c.35303T>A (p.Leu11768His)
c.35162T>A (p.Leu11721His)
c.61205T>A (p.Leu20402His)
c.56603T>A (p.Leu18868His)
c.56600T>A (p.Leu18867His)
c.53642T>A (p.Leu17881His)
c.35258T>A (p.Leu11753His)
c.56753T>A (p.Leu18918His)
c.56750T>A (p.Leu18917His)
c.56183T>A (p.Leu18728His)
c.53525T>A (p.Leu17842His)
c.53444T>A (p.Leu17815His)
c.35207T>A (p.Leu11736His)
c.25061T>A (p.Leu8354His)
2g.178589414G>ACA349465209TTN,TTN-AS1c.54607C>T (p.Leu18203Phe)
c.35692C>T (p.Leu11898Phe)
c.35491C>T (p.Leu11831Phe)
c.35116C>T (p.Leu11706Phe)
c.62311C>T (p.Leu20771Phe)
c.57388C>T (p.Leu19130Phe)
n.597-8182G>A
n.3189-1725G>A
c.61408C>T (p.Leu20470Phe)
c.35302C>T (p.Leu11768Phe)
c.35161C>T (p.Leu11721Phe)
c.61204C>T (p.Leu20402Phe)
c.56602C>T (p.Leu18868Phe)
c.56599C>T (p.Leu18867Phe)
c.53641C>T (p.Leu17881Phe)
c.35257C>T (p.Leu11753Phe)
c.56752C>T (p.Leu18918Phe)
c.56749C>T (p.Leu18917Phe)
c.56182C>T (p.Leu18728Phe)
c.53524C>T (p.Leu17842Phe)
c.53443C>T (p.Leu17815Phe)
c.35206C>T (p.Leu11736Phe)
c.25060C>T (p.Leu8354Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.178589414G>CCA349465210TTN,TTN-AS1c.54607C>G (p.Leu18203Val)
c.35692C>G (p.Leu11898Val)
c.35491C>G (p.Leu11831Val)
c.35116C>G (p.Leu11706Val)
c.62311C>G (p.Leu20771Val)
c.57388C>G (p.Leu19130Val)
n.597-8182G>C
n.3189-1725G>C
c.61408C>G (p.Leu20470Val)
c.35302C>G (p.Leu11768Val)
c.35161C>G (p.Leu11721Val)
c.61204C>G (p.Leu20402Val)
c.56602C>G (p.Leu18868Val)
c.56599C>G (p.Leu18867Val)
c.53641C>G (p.Leu17881Val)
c.35257C>G (p.Leu11753Val)
c.56752C>G (p.Leu18918Val)
c.56749C>G (p.Leu18917Val)
c.56182C>G (p.Leu18728Val)
c.53524C>G (p.Leu17842Val)
c.53443C>G (p.Leu17815Val)
c.35206C>G (p.Leu11736Val)
c.25060C>G (p.Leu8354Val)
 gnomAD v4
2g.178589414G=CA1310539462TTN,TTN-AS1c.54607C= (p.Leu18203=)
c.35692C= (p.Leu11898=)
c.35491C= (p.Leu11831=)
c.35116C= (p.Leu11706=)
c.62311C= (p.Leu20771=)
c.57388C= (p.Leu19130=)
n.597-8182G=
n.3189-1725G=
c.61408C= (p.Leu20470=)
c.35302C= (p.Leu11768=)
c.35161C= (p.Leu11721=)
c.61204C= (p.Leu20402=)
c.56602C= (p.Leu18868=)
c.56599C= (p.Leu18867=)
c.53641C= (p.Leu17881=)
c.35257C= (p.Leu11753=)
c.56752C= (p.Leu18918=)
c.56749C= (p.Leu18917=)
c.56182C= (p.Leu18728=)
c.53524C= (p.Leu17842=)
c.53443C= (p.Leu17815=)
c.35206C= (p.Leu11736=)
c.25060C= (p.Leu8354=)
2g.178589414G>TCA349465212TTN,TTN-AS1c.54607C>A (p.Leu18203Ile)
c.35692C>A (p.Leu11898Ile)
c.35491C>A (p.Leu11831Ile)
c.35116C>A (p.Leu11706Ile)
c.62311C>A (p.Leu20771Ile)
c.57388C>A (p.Leu19130Ile)
n.597-8182G>T
n.3189-1725G>T
c.61408C>A (p.Leu20470Ile)
c.35302C>A (p.Leu11768Ile)
c.35161C>A (p.Leu11721Ile)
c.61204C>A (p.Leu20402Ile)
c.56602C>A (p.Leu18868Ile)
c.56599C>A (p.Leu18867Ile)
c.53641C>A (p.Leu17881Ile)
c.35257C>A (p.Leu11753Ile)
c.56752C>A (p.Leu18918Ile)
c.56749C>A (p.Leu18917Ile)
c.56182C>A (p.Leu18728Ile)
c.53524C>A (p.Leu17842Ile)
c.53443C>A (p.Leu17815Ile)
c.35206C>A (p.Leu11736Ile)
c.25060C>A (p.Leu8354Ile)
2g.178589415T>ACA430265502TTN,TTN-AS1c.54606A>T (p.Val18202=)
c.35691A>T (p.Val11897=)
c.35490A>T (p.Val11830=)
c.35115A>T (p.Val11705=)
c.62310A>T (p.Val20770=)
c.57387A>T (p.Val19129=)
n.597-8181T>A
n.3189-1724T>A
c.61407A>T (p.Val20469=)
c.35301A>T (p.Val11767=)
c.35160A>T (p.Val11720=)
c.61203A>T (p.Val20401=)
c.56601A>T (p.Val18867=)
c.56598A>T (p.Val18866=)
c.53640A>T (p.Val17880=)
c.35256A>T (p.Val11752=)
c.56751A>T (p.Val18917=)
c.56748A>T (p.Val18916=)
c.56181A>T (p.Val18727=)
c.53523A>T (p.Val17841=)
c.53442A>T (p.Val17814=)
c.35205A>T (p.Val11735=)
c.25059A>T (p.Val8353=)
2g.178589415T>CCA430265503TTN,TTN-AS1c.54606A>G (p.Val18202=)
c.35691A>G (p.Val11897=)
c.35490A>G (p.Val11830=)
c.35115A>G (p.Val11705=)
c.62310A>G (p.Val20770=)
c.57387A>G (p.Val19129=)
n.597-8181T>C
n.3189-1724T>C
c.61407A>G (p.Val20469=)
c.35301A>G (p.Val11767=)
c.35160A>G (p.Val11720=)
c.61203A>G (p.Val20401=)
c.56601A>G (p.Val18867=)
c.56598A>G (p.Val18866=)
c.53640A>G (p.Val17880=)
c.35256A>G (p.Val11752=)
c.56751A>G (p.Val18917=)
c.56748A>G (p.Val18916=)
c.56181A>G (p.Val18727=)
c.53523A>G (p.Val17841=)
c.53442A>G (p.Val17814=)
c.35205A>G (p.Val11735=)
c.25059A>G (p.Val8353=)
2g.178589415T>GCA430265504TTN,TTN-AS1c.54606A>C (p.Val18202=)
c.35691A>C (p.Val11897=)
c.35490A>C (p.Val11830=)
c.35115A>C (p.Val11705=)
c.62310A>C (p.Val20770=)
c.57387A>C (p.Val19129=)
n.597-8181T>G
n.3189-1724T>G
c.61407A>C (p.Val20469=)
c.35301A>C (p.Val11767=)
c.35160A>C (p.Val11720=)
c.61203A>C (p.Val20401=)
c.56601A>C (p.Val18867=)
c.56598A>C (p.Val18866=)
c.53640A>C (p.Val17880=)
c.35256A>C (p.Val11752=)
c.56751A>C (p.Val18917=)
c.56748A>C (p.Val18916=)
c.56181A>C (p.Val18727=)
c.53523A>C (p.Val17841=)
c.53442A>C (p.Val17814=)
c.35205A>C (p.Val11735=)
c.25059A>C (p.Val8353=)
2g.178589416A=CA1310539464TTN,TTN-AS1c.54605T= (p.Val18202=)
c.35690T= (p.Val11897=)
c.35489T= (p.Val11830=)
c.35114T= (p.Val11705=)
c.62309T= (p.Val20770=)
c.57386T= (p.Val19129=)
n.597-8180A=
n.3189-1723A=
c.61406T= (p.Val20469=)
c.35300T= (p.Val11767=)
c.35159T= (p.Val11720=)
c.61202T= (p.Val20401=)
c.56600T= (p.Val18867=)
c.56597T= (p.Val18866=)
c.53639T= (p.Val17880=)
c.35255T= (p.Val11752=)
c.56750T= (p.Val18917=)
c.56747T= (p.Val18916=)
c.56180T= (p.Val18727=)
c.53522T= (p.Val17841=)
c.53441T= (p.Val17814=)
c.35204T= (p.Val11735=)
c.25058T= (p.Val8353=)
2g.178589416A>CCA349465213TTN,TTN-AS1c.54605T>G (p.Val18202Gly)
c.35690T>G (p.Val11897Gly)
c.35489T>G (p.Val11830Gly)
c.35114T>G (p.Val11705Gly)
c.62309T>G (p.Val20770Gly)
c.57386T>G (p.Val19129Gly)
n.597-8180A>C
n.3189-1723A>C
c.61406T>G (p.Val20469Gly)
c.35300T>G (p.Val11767Gly)
c.35159T>G (p.Val11720Gly)
c.61202T>G (p.Val20401Gly)
c.56600T>G (p.Val18867Gly)
c.56597T>G (p.Val18866Gly)
c.53639T>G (p.Val17880Gly)
c.35255T>G (p.Val11752Gly)
c.56750T>G (p.Val18917Gly)
c.56747T>G (p.Val18916Gly)
c.56180T>G (p.Val18727Gly)
c.53522T>G (p.Val17841Gly)
c.53441T>G (p.Val17814Gly)
c.35204T>G (p.Val11735Gly)
c.25058T>G (p.Val8353Gly)
2g.178589416A>GCA1992243TTN,TTN-AS1c.54605T>C (p.Val18202Ala)
c.35690T>C (p.Val11897Ala)
c.35489T>C (p.Val11830Ala)
c.35114T>C (p.Val11705Ala)
c.62309T>C (p.Val20770Ala)
c.57386T>C (p.Val19129Ala)
n.597-8180A>G
n.3189-1723A>G
c.61406T>C (p.Val20469Ala)
c.35300T>C (p.Val11767Ala)
c.35159T>C (p.Val11720Ala)
c.61202T>C (p.Val20401Ala)
c.56600T>C (p.Val18867Ala)
c.56597T>C (p.Val18866Ala)
c.53639T>C (p.Val17880Ala)
c.35255T>C (p.Val11752Ala)
c.56750T>C (p.Val18917Ala)
c.56747T>C (p.Val18916Ala)
c.56180T>C (p.Val18727Ala)
c.53522T>C (p.Val17841Ala)
c.53441T>C (p.Val17814Ala)
c.35204T>C (p.Val11735Ala)
c.25058T>C (p.Val8353Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178589416A>TCA349465215TTN,TTN-AS1c.54605T>A (p.Val18202Glu)
c.35690T>A (p.Val11897Glu)
c.35489T>A (p.Val11830Glu)
c.35114T>A (p.Val11705Glu)
c.62309T>A (p.Val20770Glu)
c.57386T>A (p.Val19129Glu)
n.597-8180A>T
n.3189-1723A>T
c.61406T>A (p.Val20469Glu)
c.35300T>A (p.Val11767Glu)
c.35159T>A (p.Val11720Glu)
c.61202T>A (p.Val20401Glu)
c.56600T>A (p.Val18867Glu)
c.56597T>A (p.Val18866Glu)
c.53639T>A (p.Val17880Glu)
c.35255T>A (p.Val11752Glu)
c.56750T>A (p.Val18917Glu)
c.56747T>A (p.Val18916Glu)
c.56180T>A (p.Val18727Glu)
c.53522T>A (p.Val17841Glu)
c.53441T>A (p.Val17814Glu)
c.35204T>A (p.Val11735Glu)
c.25058T>A (p.Val8353Glu)
2g.178589417C>ACA349465217TTN,TTN-AS1c.54604G>T (p.Val18202Leu)
c.35689G>T (p.Val11897Leu)
c.35488G>T (p.Val11830Leu)
c.35113G>T (p.Val11705Leu)
c.62308G>T (p.Val20770Leu)
c.57385G>T (p.Val19129Leu)
n.597-8179C>A
n.3189-1722C>A
c.61405G>T (p.Val20469Leu)
c.35299G>T (p.Val11767Leu)
c.35158G>T (p.Val11720Leu)
c.61201G>T (p.Val20401Leu)
c.56599G>T (p.Val18867Leu)
c.56596G>T (p.Val18866Leu)
c.53638G>T (p.Val17880Leu)
c.35254G>T (p.Val11752Leu)
c.56749G>T (p.Val18917Leu)
c.56746G>T (p.Val18916Leu)
c.56179G>T (p.Val18727Leu)
c.53521G>T (p.Val17841Leu)
c.53440G>T (p.Val17814Leu)
c.35203G>T (p.Val11735Leu)
c.25057G>T (p.Val8353Leu)
2g.178589417C>GCA349465218TTN,TTN-AS1c.54604G>C (p.Val18202Leu)
c.35689G>C (p.Val11897Leu)
c.35488G>C (p.Val11830Leu)
c.35113G>C (p.Val11705Leu)
c.62308G>C (p.Val20770Leu)
c.57385G>C (p.Val19129Leu)
n.597-8179C>G
n.3189-1722C>G
c.61405G>C (p.Val20469Leu)
c.35299G>C (p.Val11767Leu)
c.35158G>C (p.Val11720Leu)
c.61201G>C (p.Val20401Leu)
c.56599G>C (p.Val18867Leu)
c.56596G>C (p.Val18866Leu)
c.53638G>C (p.Val17880Leu)
c.35254G>C (p.Val11752Leu)
c.56749G>C (p.Val18917Leu)
c.56746G>C (p.Val18916Leu)
c.56179G>C (p.Val18727Leu)
c.53521G>C (p.Val17841Leu)
c.53440G>C (p.Val17814Leu)
c.35203G>C (p.Val11735Leu)
c.25057G>C (p.Val8353Leu)
2g.178589417C>TCA349465219TTN,TTN-AS1c.54604G>A (p.Val18202Ile)
c.35689G>A (p.Val11897Ile)
c.35488G>A (p.Val11830Ile)
c.35113G>A (p.Val11705Ile)
c.62308G>A (p.Val20770Ile)
c.57385G>A (p.Val19129Ile)
n.597-8179C>T
n.3189-1722C>T
c.61405G>A (p.Val20469Ile)
c.35299G>A (p.Val11767Ile)
c.35158G>A (p.Val11720Ile)
c.61201G>A (p.Val20401Ile)
c.56599G>A (p.Val18867Ile)
c.56596G>A (p.Val18866Ile)
c.53638G>A (p.Val17880Ile)
c.35254G>A (p.Val11752Ile)
c.56749G>A (p.Val18917Ile)
c.56746G>A (p.Val18916Ile)
c.56179G>A (p.Val18727Ile)
c.53521G>A (p.Val17841Ile)
c.53440G>A (p.Val17814Ile)
c.35203G>A (p.Val11735Ile)
c.25057G>A (p.Val8353Ile)
2g.178589418T>ACA430265509TTN,TTN-AS1c.54603A>T (p.Pro18201=)
c.35688A>T (p.Pro11896=)
c.35487A>T (p.Pro11829=)
c.35112A>T (p.Pro11704=)
c.62307A>T (p.Pro20769=)
c.57384A>T (p.Pro19128=)
n.597-8178T>A
n.3189-1721T>A
c.61404A>T (p.Pro20468=)
c.35298A>T (p.Pro11766=)
c.35157A>T (p.Pro11719=)
c.61200A>T (p.Pro20400=)
c.56598A>T (p.Pro18866=)
c.56595A>T (p.Pro18865=)
c.53637A>T (p.Pro17879=)
c.35253A>T (p.Pro11751=)
c.56748A>T (p.Pro18916=)
c.56745A>T (p.Pro18915=)
c.56178A>T (p.Pro18726=)
c.53520A>T (p.Pro17840=)
c.53439A>T (p.Pro17813=)
c.35202A>T (p.Pro11734=)
c.25056A>T (p.Pro8352=)
2g.178589418T>CCA430265511TTN,TTN-AS1c.54603A>G (p.Pro18201=)
c.35688A>G (p.Pro11896=)
c.35487A>G (p.Pro11829=)
c.35112A>G (p.Pro11704=)
c.62307A>G (p.Pro20769=)
c.57384A>G (p.Pro19128=)
n.597-8178T>C
n.3189-1721T>C
c.61404A>G (p.Pro20468=)
c.35298A>G (p.Pro11766=)
c.35157A>G (p.Pro11719=)
c.61200A>G (p.Pro20400=)
c.56598A>G (p.Pro18866=)
c.56595A>G (p.Pro18865=)
c.53637A>G (p.Pro17879=)
c.35253A>G (p.Pro11751=)
c.56748A>G (p.Pro18916=)
c.56745A>G (p.Pro18915=)
c.56178A>G (p.Pro18726=)
c.53520A>G (p.Pro17840=)
c.53439A>G (p.Pro17813=)
c.35202A>G (p.Pro11734=)
c.25056A>G (p.Pro8352=)
2g.178589418T>GCA430265510TTN,TTN-AS1c.54603A>C (p.Pro18201=)
c.35688A>C (p.Pro11896=)
c.35487A>C (p.Pro11829=)
c.35112A>C (p.Pro11704=)
c.62307A>C (p.Pro20769=)
c.57384A>C (p.Pro19128=)
n.597-8178T>G
n.3189-1721T>G
c.61404A>C (p.Pro20468=)
c.35298A>C (p.Pro11766=)
c.35157A>C (p.Pro11719=)
c.61200A>C (p.Pro20400=)
c.56598A>C (p.Pro18866=)
c.56595A>C (p.Pro18865=)
c.53637A>C (p.Pro17879=)
c.35253A>C (p.Pro11751=)
c.56748A>C (p.Pro18916=)
c.56745A>C (p.Pro18915=)
c.56178A>C (p.Pro18726=)
c.53520A>C (p.Pro17840=)
c.53439A>C (p.Pro17813=)
c.35202A>C (p.Pro11734=)
c.25056A>C (p.Pro8352=)
 ClinVar
2g.178589419G>ACA349465221TTN,TTN-AS1c.54602C>T (p.Pro18201Leu)
c.35687C>T (p.Pro11896Leu)
c.35486C>T (p.Pro11829Leu)
c.35111C>T (p.Pro11704Leu)
c.62306C>T (p.Pro20769Leu)
c.57383C>T (p.Pro19128Leu)
n.597-8177G>A
n.3189-1720G>A
c.61403C>T (p.Pro20468Leu)
c.35297C>T (p.Pro11766Leu)
c.35156C>T (p.Pro11719Leu)
c.61199C>T (p.Pro20400Leu)
c.56597C>T (p.Pro18866Leu)
c.56594C>T (p.Pro18865Leu)
c.53636C>T (p.Pro17879Leu)
c.35252C>T (p.Pro11751Leu)
c.56747C>T (p.Pro18916Leu)
c.56744C>T (p.Pro18915Leu)
c.56177C>T (p.Pro18726Leu)
c.53519C>T (p.Pro17840Leu)
c.53438C>T (p.Pro17813Leu)
c.35201C>T (p.Pro11734Leu)
c.25055C>T (p.Pro8352Leu)
 dbSNP gnomAD v4
2g.178589419G>CCA349465222TTN,TTN-AS1c.54602C>G (p.Pro18201Arg)
c.35687C>G (p.Pro11896Arg)
c.35486C>G (p.Pro11829Arg)
c.35111C>G (p.Pro11704Arg)
c.62306C>G (p.Pro20769Arg)
c.57383C>G (p.Pro19128Arg)
n.597-8177G>C
n.3189-1720G>C
c.61403C>G (p.Pro20468Arg)
c.35297C>G (p.Pro11766Arg)
c.35156C>G (p.Pro11719Arg)
c.61199C>G (p.Pro20400Arg)
c.56597C>G (p.Pro18866Arg)
c.56594C>G (p.Pro18865Arg)
c.53636C>G (p.Pro17879Arg)
c.35252C>G (p.Pro11751Arg)
c.56747C>G (p.Pro18916Arg)
c.56744C>G (p.Pro18915Arg)
c.56177C>G (p.Pro18726Arg)
c.53519C>G (p.Pro17840Arg)
c.53438C>G (p.Pro17813Arg)
c.35201C>G (p.Pro11734Arg)
c.25055C>G (p.Pro8352Arg)
 dbSNP
2g.178589419G=CA1310539465TTN,TTN-AS1c.54602C= (p.Pro18201=)
c.35687C= (p.Pro11896=)
c.35486C= (p.Pro11829=)
c.35111C= (p.Pro11704=)
c.62306C= (p.Pro20769=)
c.57383C= (p.Pro19128=)
n.597-8177G=
n.3189-1720G=
c.61403C= (p.Pro20468=)
c.35297C= (p.Pro11766=)
c.35156C= (p.Pro11719=)
c.61199C= (p.Pro20400=)
c.56597C= (p.Pro18866=)
c.56594C= (p.Pro18865=)
c.53636C= (p.Pro17879=)
c.35252C= (p.Pro11751=)
c.56747C= (p.Pro18916=)
c.56744C= (p.Pro18915=)
c.56177C= (p.Pro18726=)
c.53519C= (p.Pro17840=)
c.53438C= (p.Pro17813=)
c.35201C= (p.Pro11734=)
c.25055C= (p.Pro8352=)
2g.178589419G>TCA310200TTN,TTN-AS1c.54602C>A (p.Pro18201Gln)
c.35687C>A (p.Pro11896Gln)
c.35486C>A (p.Pro11829Gln)
c.35111C>A (p.Pro11704Gln)
c.62306C>A (p.Pro20769Gln)
c.57383C>A (p.Pro19128Gln)
n.597-8177G>T
n.3189-1720G>T
c.61403C>A (p.Pro20468Gln)
c.35297C>A (p.Pro11766Gln)
c.35156C>A (p.Pro11719Gln)
c.61199C>A (p.Pro20400Gln)
c.56597C>A (p.Pro18866Gln)
c.56594C>A (p.Pro18865Gln)
c.53636C>A (p.Pro17879Gln)
c.35252C>A (p.Pro11751Gln)
c.56747C>A (p.Pro18916Gln)
c.56744C>A (p.Pro18915Gln)
c.56177C>A (p.Pro18726Gln)
c.53519C>A (p.Pro17840Gln)
c.53438C>A (p.Pro17813Gln)
c.35201C>A (p.Pro11734Gln)
c.25055C>A (p.Pro8352Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178589420G>ACA349465228TTN,TTN-AS1c.54601C>T (p.Pro18201Ser)
c.35686C>T (p.Pro11896Ser)
c.35485C>T (p.Pro11829Ser)
c.35110C>T (p.Pro11704Ser)
c.62305C>T (p.Pro20769Ser)
c.57382C>T (p.Pro19128Ser)
n.597-8176G>A
n.3189-1719G>A
c.61402C>T (p.Pro20468Ser)
c.35296C>T (p.Pro11766Ser)
c.35155C>T (p.Pro11719Ser)
c.61198C>T (p.Pro20400Ser)
c.56596C>T (p.Pro18866Ser)
c.56593C>T (p.Pro18865Ser)
c.53635C>T (p.Pro17879Ser)
c.35251C>T (p.Pro11751Ser)
c.56746C>T (p.Pro18916Ser)
c.56743C>T (p.Pro18915Ser)
c.56176C>T (p.Pro18726Ser)
c.53518C>T (p.Pro17840Ser)
c.53437C>T (p.Pro17813Ser)
c.35200C>T (p.Pro11734Ser)
c.25054C>T (p.Pro8352Ser)
2g.178589420G>CCA349465224TTN,TTN-AS1c.54601C>G (p.Pro18201Ala)
c.35686C>G (p.Pro11896Ala)
c.35485C>G (p.Pro11829Ala)
c.35110C>G (p.Pro11704Ala)
c.62305C>G (p.Pro20769Ala)
c.57382C>G (p.Pro19128Ala)
n.597-8176G>C
n.3189-1719G>C
c.61402C>G (p.Pro20468Ala)
c.35296C>G (p.Pro11766Ala)
c.35155C>G (p.Pro11719Ala)
c.61198C>G (p.Pro20400Ala)
c.56596C>G (p.Pro18866Ala)
c.56593C>G (p.Pro18865Ala)
c.53635C>G (p.Pro17879Ala)
c.35251C>G (p.Pro11751Ala)
c.56746C>G (p.Pro18916Ala)
c.56743C>G (p.Pro18915Ala)
c.56176C>G (p.Pro18726Ala)
c.53518C>G (p.Pro17840Ala)
c.53437C>G (p.Pro17813Ala)
c.35200C>G (p.Pro11734Ala)
c.25054C>G (p.Pro8352Ala)
2g.178589420G>TCA349465226TTN,TTN-AS1c.54601C>A (p.Pro18201Thr)
c.35686C>A (p.Pro11896Thr)
c.35485C>A (p.Pro11829Thr)
c.35110C>A (p.Pro11704Thr)
c.62305C>A (p.Pro20769Thr)
c.57382C>A (p.Pro19128Thr)
n.597-8176G>T
n.3189-1719G>T
c.61402C>A (p.Pro20468Thr)
c.35296C>A (p.Pro11766Thr)
c.35155C>A (p.Pro11719Thr)
c.61198C>A (p.Pro20400Thr)
c.56596C>A (p.Pro18866Thr)
c.56593C>A (p.Pro18865Thr)
c.53635C>A (p.Pro17879Thr)
c.35251C>A (p.Pro11751Thr)
c.56746C>A (p.Pro18916Thr)
c.56743C>A (p.Pro18915Thr)
c.56176C>A (p.Pro18726Thr)
c.53518C>A (p.Pro17840Thr)
c.53437C>A (p.Pro17813Thr)
c.35200C>A (p.Pro11734Thr)
c.25054C>A (p.Pro8352Thr)
 gnomAD v4
2g.178589421T>ACA349465230TTN,TTN-AS1c.54600A>T (p.Lys18200Asn)
c.35685A>T (p.Lys11895Asn)
c.35484A>T (p.Lys11828Asn)
c.35109A>T (p.Lys11703Asn)
c.62304A>T (p.Lys20768Asn)
c.57381A>T (p.Lys19127Asn)
n.597-8175T>A
n.3189-1718T>A
c.61401A>T (p.Lys20467Asn)
c.35295A>T (p.Lys11765Asn)
c.35154A>T (p.Lys11718Asn)
c.61197A>T (p.Lys20399Asn)
c.56595A>T (p.Lys18865Asn)
c.56592A>T (p.Lys18864Asn)
c.53634A>T (p.Lys17878Asn)
c.35250A>T (p.Lys11750Asn)
c.56745A>T (p.Lys18915Asn)
c.56742A>T (p.Lys18914Asn)
c.56175A>T (p.Lys18725Asn)
c.53517A>T (p.Lys17839Asn)
c.53436A>T (p.Lys17812Asn)
c.35199A>T (p.Lys11733Asn)
c.25053A>T (p.Lys8351Asn)
2g.178589421T>CCA430265515TTN,TTN-AS1c.54600A>G (p.Lys18200=)
c.35685A>G (p.Lys11895=)
c.35484A>G (p.Lys11828=)
c.35109A>G (p.Lys11703=)
c.62304A>G (p.Lys20768=)
c.57381A>G (p.Lys19127=)
n.597-8175T>C
n.3189-1718T>C
c.61401A>G (p.Lys20467=)
c.35295A>G (p.Lys11765=)
c.35154A>G (p.Lys11718=)
c.61197A>G (p.Lys20399=)
c.56595A>G (p.Lys18865=)
c.56592A>G (p.Lys18864=)
c.53634A>G (p.Lys17878=)
c.35250A>G (p.Lys11750=)
c.56745A>G (p.Lys18915=)
c.56742A>G (p.Lys18914=)
c.56175A>G (p.Lys18725=)
c.53517A>G (p.Lys17839=)
c.53436A>G (p.Lys17812=)
c.35199A>G (p.Lys11733=)
c.25053A>G (p.Lys8351=)

Number of alleles fetched