Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50079809_50080366delinsGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGA | CA2410655763 | MLC1 | c.299_423+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC c.209_333+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.694_818+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.804_928+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.572_696+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC c.299_321+535delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC c.267+2718_268-2307delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC (n.267+2718_268-2307delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC) c.62_186+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.646_770+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.430_554+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.823_947+109delinsTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC | |
22 | g.50079809_50080367delinsGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGAC | CA2410655762 | MLC1 | c.298_423+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC c.208_333+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.693_818+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.803_928+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.571_696+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC c.298_321+535delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC c.267+2717_268-2307delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC (n.267+2717_268-2307delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC) c.61_186+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.645_770+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.429_554+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC n.822_947+109delinsGTCTCCAGGAGGAACGCCAATGTGGTGAGTCTAGCTTGCAGGCAGCCTCTGCCAGGGAGAAAGCCGGAGGGGCTGACAGACAGTGTGCCCATGTGTGCTTGTGTGTGTGCCCACGCACAGACGTTGTGGCACCGAGAGGGGCCCCCGAGGTTGCCCCCCAGACAGTAAAGCTCCTGCCCAGCCCAGCCTTTGCCGCACAGAGGGGAGAGCGGGCTGAGCACGCAGGACTCCCCACCATTATGTCCTAATCAGGATAATTTTTAGTGAATGGCCTGAAGTGTGGTTTATCTGTTACCTTTTTTCTTTTATTATTCAAAGAAGGAAAACCCCTCCTGCCTTGTTTTTCAGATTCCCAACTTTCAGATATTGTTTGTTTCCACGTTTGCTGTGACCACTACGTGTTTAATTTGGTTTGGATGCAAACTAGTCCTGAACCCATCAGCAATAAACGTGAGTTCACACGAGCTTCGCGCAGACGCCTGACACCCACAGCCCCACTCCCACGAATGGTGTCAGCAAATGTTTGTTGAGCTGGAAATAGGTGGTAAATGTTATTCAC | |
22 | g.50079810_50080366del | CA915952832 | MLC1 | c.299_423+108del c.209_333+108del n.694_818+108del n.804_928+108del n.572_696+108del c.299_321+534del c.267+2718_268-2308del (n.267+2718_268-2308del) c.62_186+108del n.646_770+108del n.430_554+108del n.823_947+108del | ClinVar dbSNP |
22 | g.50079810_50080367del | CA342171 | MLC1 | c.298_423+108del c.208_333+108del n.693_818+108del n.803_928+108del n.571_696+108del c.298_321+534del c.267+2717_268-2308del (n.267+2717_268-2308del) c.61_186+108del n.645_770+108del n.429_554+108del n.822_947+108del | ClinVar dbSNP |
22 | g.50079918G>A | CA515000972 | MLC1 | c.423C>T (p.Asn141=) c.333C>T (p.Asn111=) n.818C>T n.928C>T n.696C>T c.321+426C>T (n.321+426C>T) c.268-2416C>T (n.268-2416C>T) c.186C>T (p.Asn62=) n.770C>T n.554C>T n.947C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.50079918G>C | CA412110528 | MLC1 | c.423C>G (p.Asn141Lys) c.333C>G (p.Asn111Lys) n.818C>G n.928C>G n.696C>G c.321+426C>G (n.321+426C>G) c.268-2416C>G (n.268-2416C>G) c.186C>G (p.Asn62Lys) n.770C>G n.554C>G n.947C>G | |
22 | g.50079918G= | CA2410655814 | MLC1 | c.423C= (p.Asn141=) c.333C= (p.Asn111=) n.818C= n.928C= n.696C= c.321+426C= (n.321+426C=) c.268-2416C= (n.268-2416C=) c.186C= (p.Asn62=) n.770C= n.554C= n.947C= | |
22 | g.50079918G>T | CA253251 | MLC1 | c.423C>A (p.Asn141Lys) c.333C>A (p.Asn111Lys) n.818C>A n.928C>A n.696C>A c.321+426C>A (n.321+426C>A) c.268-2416C>A (n.268-2416C>A) c.186C>A (p.Asn62Lys) n.770C>A n.554C>A n.947C>A | ClinVar dbSNP gnomAD v4 |
22 | g.50079919T>A | CA412110530 | MLC1 | c.422A>T (p.Asn141Ile) c.332A>T (p.Asn111Ile) n.817A>T n.927A>T n.695A>T c.321+425A>T (n.321+425A>T) c.268-2417A>T (n.268-2417A>T) c.185A>T (p.Asn62Ile) n.769A>T n.553A>T n.946A>T | |
22 | g.50079919T>C | CA253252 | MLC1 | c.422A>G (p.Asn141Ser) c.332A>G (p.Asn111Ser) n.817A>G n.927A>G n.695A>G c.321+425A>G (n.321+425A>G) c.268-2417A>G (n.268-2417A>G) c.185A>G (p.Asn62Ser) n.769A>G n.553A>G n.946A>G | ClinVar dbSNP |
22 | g.50079919T>G | CA412110531 | MLC1 | c.422A>C (p.Asn141Thr) c.332A>C (p.Asn111Thr) n.817A>C n.927A>C n.695A>C c.321+425A>C (n.321+425A>C) c.268-2417A>C (n.268-2417A>C) c.185A>C (p.Asn62Thr) n.769A>C n.553A>C n.946A>C | |
22 | g.50079919T= | CA2410655815 | MLC1 | c.422A= (p.Asn141=) c.332A= (p.Asn111=) n.817A= n.927A= n.695A= c.321+425A= (n.321+425A=) c.268-2417A= (n.268-2417A=) c.185A= (p.Asn62=) n.769A= n.553A= n.946A= | |
22 | g.50079921del | CA2577758395 | MLC1 | c.422del (p.Asn141ThrfsTer20) c.332del (p.Asn111ThrfsTer20) n.817del n.927del n.695del c.321+425del (n.321+425del) c.268-2417del (n.268-2417del) c.185del (p.Asn62ThrfsTer20) n.769del n.553del n.946del | |
22 | g.50079920T>A | CA412110535 | MLC1 | c.421A>T (p.Asn141Tyr) c.331A>T (p.Asn111Tyr) n.816A>T n.926A>T n.694A>T c.321+424A>T (n.321+424A>T) c.268-2418A>T (n.268-2418A>T) c.184A>T (p.Asn62Tyr) n.768A>T n.552A>T n.945A>T | |
22 | g.50079920T>C | CA412110536 | MLC1 | c.421A>G (p.Asn141Asp) c.331A>G (p.Asn111Asp) n.816A>G n.926A>G n.694A>G c.321+424A>G (n.321+424A>G) c.268-2418A>G (n.268-2418A>G) c.184A>G (p.Asn62Asp) n.768A>G n.552A>G n.945A>G | |
22 | g.50079920T>G | CA412110537 | MLC1 | c.421A>C (p.Asn141His) c.331A>C (p.Asn111His) n.816A>C n.926A>C n.694A>C c.321+424A>C (n.321+424A>C) c.268-2418A>C (n.268-2418A>C) c.184A>C (p.Asn62His) n.768A>C n.552A>C n.945A>C | |
22 | g.50079921T>A | CA515000974 | MLC1 | c.420A>T (p.Ile140=) c.330A>T (p.Ile110=) n.815A>T n.925A>T n.693A>T c.321+423A>T (n.321+423A>T) c.268-2419A>T (n.268-2419A>T) c.183A>T (p.Ile61=) n.767A>T n.551A>T n.944A>T | |
22 | g.50079921T>C | CA412110539 | MLC1 | c.420A>G (p.Ile140Met) c.330A>G (p.Ile110Met) n.815A>G n.925A>G n.693A>G c.321+423A>G (n.321+423A>G) c.268-2419A>G (n.268-2419A>G) c.183A>G (p.Ile61Met) n.767A>G n.551A>G n.944A>G | |
22 | g.50079921T>G | CA515000973 | MLC1 | c.420A>C (p.Ile140=) c.330A>C (p.Ile110=) n.815A>C n.925A>C n.693A>C c.321+423A>C (n.321+423A>C) c.268-2419A>C (n.268-2419A>C) c.183A>C (p.Ile61=) n.767A>C n.551A>C n.944A>C | |
22 | g.50079922_50079923dup | CA2577758408 | MLC1 | c.419_420dup (p.Asn141Ter) c.329_330dup (p.Asn111Ter) n.814_815dup n.924_925dup n.692_693dup c.321+422_321+423dup (n.321+422_321+423dup) c.268-2420_268-2419dup (n.268-2420_268-2419dup) c.182_183dup (p.Asn62Ter) n.766_767dup n.550_551dup n.943_944dup | |
22 | g.50079922A>C | CA412110542 | MLC1 | c.419T>G (p.Ile140Arg) c.329T>G (p.Ile110Arg) n.814T>G n.924T>G n.692T>G c.321+422T>G (n.321+422T>G) c.268-2420T>G (n.268-2420T>G) c.182T>G (p.Ile61Arg) n.766T>G n.550T>G n.943T>G | |
22 | g.50079922A>G | CA412110543 | MLC1 | c.419T>C (p.Ile140Thr) c.329T>C (p.Ile110Thr) n.814T>C n.924T>C n.692T>C c.321+422T>C (n.321+422T>C) c.268-2420T>C (n.268-2420T>C) c.182T>C (p.Ile61Thr) n.766T>C n.550T>C n.943T>C | |
22 | g.50079922A>T | CA412110544 | MLC1 | c.419T>A (p.Ile140Lys) c.329T>A (p.Ile110Lys) n.814T>A n.924T>A n.692T>A c.321+422T>A (n.321+422T>A) c.268-2420T>A (n.268-2420T>A) c.182T>A (p.Ile61Lys) n.766T>A n.550T>A n.943T>A | |
22 | g.50079923T>A | CA412110546 | MLC1 | c.418A>T (p.Ile140Leu) c.328A>T (p.Ile110Leu) n.813A>T n.923A>T n.691A>T c.321+421A>T (n.321+421A>T) c.268-2421A>T (n.268-2421A>T) c.181A>T (p.Ile61Leu) n.765A>T n.549A>T n.942A>T | |
22 | g.50079923T>C | CA10303566 | MLC1 | c.418A>G (p.Ile140Val) c.328A>G (p.Ile110Val) n.813A>G n.923A>G n.691A>G c.321+421A>G (n.321+421A>G) c.268-2421A>G (n.268-2421A>G) c.181A>G (p.Ile61Val) n.765A>G n.549A>G n.942A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50079923T>G | CA412110548 | MLC1 | c.418A>C (p.Ile140Leu) c.328A>C (p.Ile110Leu) n.813A>C n.923A>C n.691A>C c.321+421A>C (n.321+421A>C) c.268-2421A>C (n.268-2421A>C) c.181A>C (p.Ile61Leu) n.765A>C n.549A>C n.942A>C | |
22 | g.50079923T= | CA2410655816 | MLC1 | c.418A= (p.Ile140=) c.328A= (p.Ile110=) n.813A= n.923A= n.691A= c.321+421A= (n.321+421A=) c.268-2421A= (n.268-2421A=) c.181A= (p.Ile61=) n.765A= n.549A= n.942A= | |
22 | g.50079924T>A | CA515000975 | MLC1 | c.417A>T (p.Ala139=) c.327A>T (p.Ala109=) n.812A>T n.922A>T n.690A>T c.321+420A>T (n.321+420A>T) c.268-2422A>T (n.268-2422A>T) c.180A>T (p.Ala60=) n.764A>T n.548A>T n.941A>T | |
22 | g.50079924T>C | CA515000977 | MLC1 | c.417A>G (p.Ala139=) c.327A>G (p.Ala109=) n.812A>G n.922A>G n.690A>G c.321+420A>G (n.321+420A>G) c.268-2422A>G (n.268-2422A>G) c.180A>G (p.Ala60=) n.764A>G n.548A>G n.941A>G | dbSNP gnomAD v4 |
22 | g.50079924T>G | CA515000976 | MLC1 | c.417A>C (p.Ala139=) c.327A>C (p.Ala109=) n.812A>C n.922A>C n.690A>C c.321+420A>C (n.321+420A>C) c.268-2422A>C (n.268-2422A>C) c.180A>C (p.Ala60=) n.764A>C n.548A>C n.941A>C | ClinVar dbSNP |
22 | g.50079924T= | CA2410655817 | MLC1 | c.417A= (p.Ala139=) c.327A= (p.Ala109=) n.812A= n.922A= n.690A= c.321+420A= (n.321+420A=) c.268-2422A= (n.268-2422A=) c.180A= (p.Ala60=) n.764A= n.548A= n.941A= | |
22 | g.50079925G>A | CA412110550 | MLC1 | c.416C>T (p.Ala139Val) c.326C>T (p.Ala109Val) n.811C>T n.921C>T n.689C>T c.321+419C>T (n.321+419C>T) c.268-2423C>T (n.268-2423C>T) c.179C>T (p.Ala60Val) n.763C>T n.547C>T n.940C>T | |
22 | g.50079925G>C | CA412110552 | MLC1 | c.416C>G (p.Ala139Gly) c.326C>G (p.Ala109Gly) n.811C>G n.921C>G n.689C>G c.321+419C>G (n.321+419C>G) c.268-2423C>G (n.268-2423C>G) c.179C>G (p.Ala60Gly) n.763C>G n.547C>G n.940C>G | COSMIC |
22 | g.50079925G>T | CA412110553 | MLC1 | c.416C>A (p.Ala139Glu) c.326C>A (p.Ala109Glu) n.811C>A n.921C>A n.689C>A c.321+419C>A (n.321+419C>A) c.268-2423C>A (n.268-2423C>A) c.179C>A (p.Ala60Glu) n.763C>A n.547C>A n.940C>A | |
22 | g.50079926C>A | CA412110557 | MLC1 | c.415G>T (p.Ala139Ser) c.325G>T (p.Ala109Ser) n.810G>T n.920G>T n.688G>T c.321+418G>T (n.321+418G>T) c.268-2424G>T (n.268-2424G>T) c.178G>T (p.Ala60Ser) n.762G>T n.546G>T n.939G>T | |
22 | g.50079926C>G | CA412110556 | MLC1 | c.415G>C (p.Ala139Pro) c.325G>C (p.Ala109Pro) n.810G>C n.920G>C n.688G>C c.321+418G>C (n.321+418G>C) c.268-2424G>C (n.268-2424G>C) c.178G>C (p.Ala60Pro) n.762G>C n.546G>C n.939G>C | |
22 | g.50079926C>T | CA412110555 | MLC1 | c.415G>A (p.Ala139Thr) c.325G>A (p.Ala109Thr) n.810G>A n.920G>A n.688G>A c.321+418G>A (n.321+418G>A) c.268-2424G>A (n.268-2424G>A) c.178G>A (p.Ala60Thr) n.762G>A n.546G>A n.939G>A | |
22 | g.50079927_50079967del | CA2657477994 | MLC1 | c.375_415del (p.Leu126AsnfsTer?) c.285_325del (p.Leu96AsnfsTer?) n.770_810del n.880_920del n.648_688del c.321+378_321+418del (n.321+378_321+418del) c.268-2464_268-2424del (n.268-2464_268-2424del) c.138_178del (p.Leu47AsnfsTer?) n.722_762del n.506_546del n.899_939del | gnomAD v4 |
22 | g.50079927T>A | CA515000978 | MLC1 | c.414A>T (p.Ser138=) c.324A>T (p.Ser108=) n.809A>T n.919A>T n.687A>T c.321+417A>T (n.321+417A>T) c.268-2425A>T (n.268-2425A>T) c.177A>T (p.Ser59=) n.761A>T n.545A>T n.938A>T | |
22 | g.50079927T>C | CA325495930 | MLC1 | c.414A>G (p.Ser138=) c.324A>G (p.Ser108=) n.809A>G n.919A>G n.687A>G c.321+417A>G (n.321+417A>G) c.268-2425A>G (n.268-2425A>G) c.177A>G (p.Ser59=) n.761A>G n.545A>G n.938A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50079927T>G | CA515000979 | MLC1 | c.414A>C (p.Ser138=) c.324A>C (p.Ser108=) n.809A>C n.919A>C n.687A>C c.321+417A>C (n.321+417A>C) c.268-2425A>C (n.268-2425A>C) c.177A>C (p.Ser59=) n.761A>C n.545A>C n.938A>C | |
22 | g.50079927T= | CA2410655818 | MLC1 | c.414A= (p.Ser138=) c.324A= (p.Ser108=) n.809A= n.919A= n.687A= c.321+417A= (n.321+417A=) c.268-2425A= (n.268-2425A=) c.177A= (p.Ser59=) n.761A= n.545A= n.938A= | |
22 | g.50079928G>A | CA412110558 | MLC1 | c.413C>T (p.Ser138Leu) c.323C>T (p.Ser108Leu) n.808C>T n.918C>T n.686C>T c.321+416C>T (n.321+416C>T) c.268-2426C>T (n.268-2426C>T) c.176C>T (p.Ser59Leu) n.760C>T n.544C>T n.937C>T | |
22 | g.50079928G>C | CA412110560 | MLC1 | c.413C>G (p.Ser138Ter) c.323C>G (p.Ser108Ter) n.808C>G n.918C>G n.686C>G c.321+416C>G (n.321+416C>G) c.268-2426C>G (n.268-2426C>G) c.176C>G (p.Ser59Ter) n.760C>G n.544C>G n.937C>G | |
22 | g.50079928G= | CA2410655819 | MLC1 | c.413C= (p.Ser138=) c.323C= (p.Ser108=) n.808C= n.918C= n.686C= c.321+416C= (n.321+416C=) c.268-2426C= (n.268-2426C=) c.176C= (p.Ser59=) n.760C= n.544C= n.937C= | |
22 | g.50079928G>T | CA412110561 | MLC1 | c.413C>A (p.Ser138Ter) c.323C>A (p.Ser108Ter) n.808C>A n.918C>A n.686C>A c.321+416C>A (n.321+416C>A) c.268-2426C>A (n.268-2426C>A) c.176C>A (p.Ser59Ter) n.760C>A n.544C>A n.937C>A | ClinVar dbSNP |
22 | g.50079929A>C | CA412110563 | MLC1 | c.412T>G (p.Ser138Ala) c.322T>G (p.Ser108Ala) n.807T>G n.917T>G n.685T>G c.321+415T>G (n.321+415T>G) c.268-2427T>G (n.268-2427T>G) c.175T>G (p.Ser59Ala) n.759T>G n.543T>G n.936T>G | |
22 | g.50079929A>G | CA412110565 | MLC1 | c.412T>C (p.Ser138Pro) c.322T>C (p.Ser108Pro) n.807T>C n.917T>C n.685T>C c.321+415T>C (n.321+415T>C) c.268-2427T>C (n.268-2427T>C) c.175T>C (p.Ser59Pro) n.759T>C n.543T>C n.936T>C | |
22 | g.50079929A>T | CA412110567 | MLC1 | c.412T>A (p.Ser138Thr) c.322T>A (p.Ser108Thr) n.807T>A n.917T>A n.685T>A c.321+415T>A (n.321+415T>A) c.268-2427T>A (n.268-2427T>A) c.175T>A (p.Ser59Thr) n.759T>A n.543T>A n.936T>A | |
22 | g.50079930T>A | CA515000980 | MLC1 | c.411A>T (p.Pro137=) c.321A>T (p.Pro107=) n.806A>T n.916A>T n.684A>T c.321+414A>T (n.321+414A>T) c.268-2428A>T (n.268-2428A>T) c.174A>T (p.Pro58=) n.758A>T n.542A>T n.935A>T |