Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40410818_40411313delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC | CA2171765580 | IVD | c.366+21_420delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.456+21_510delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.543+21_597delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.375+21_429delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.465+21_519delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.215+21_269delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.62+21_116delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.79+21_133delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.408+21_462delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.552+21_606delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.465+21_519delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.566+21_620delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.866+21_920delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC c.495+21_549delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.815+21_869delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.856+21_910delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC n.868+21_922delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC | |
15 | g.40410819_40411313delinsGTTG | CA658658283 | IVD | c.366+22_420delinsGTTG c.456+22_510delinsGTTG c.543+22_597delinsGTTG c.375+22_429delinsGTTG c.465+22_519delinsGTTG c.215+22_269delinsGTTG c.62+22_116delinsGTTG n.79+22_133delinsGTTG c.408+22_462delinsGTTG c.552+22_606delinsGTTG n.465+22_519delinsGTTG n.566+22_620delinsGTTG n.866+22_920delinsGTTG c.495+22_549delinsGTTG n.815+22_869delinsGTTG n.856+22_910delinsGTTG n.868+22_922delinsGTTG | ClinVar dbSNP |
15 | g.40411236G>A | CA2627813817 | IVD | c.367-24G>A (n.367-24G>A) c.457-24G>A (n.457-24G>A) c.544-24G>A (n.544-24G>A) c.376-24G>A (n.376-24G>A) c.466-24G>A (n.466-24G>A) c.216-24G>A c.63-24G>A n.80-24G>A c.409-24G>A (n.409-24G>A) c.553-24G>A (n.553-24G>A) n.466-24G>A n.567-24G>A n.867-24G>A c.496-24G>A (n.496-24G>A) n.816-24G>A n.857-24G>A n.869-24G>A | gnomAD v4 |
15 | g.40411236G>C | CA2627813818 | IVD | c.367-24G>C (n.367-24G>C) c.457-24G>C (n.457-24G>C) c.544-24G>C (n.544-24G>C) c.376-24G>C (n.376-24G>C) c.466-24G>C (n.466-24G>C) c.216-24G>C c.63-24G>C n.80-24G>C c.409-24G>C (n.409-24G>C) c.553-24G>C (n.553-24G>C) n.466-24G>C n.567-24G>C n.867-24G>C c.496-24G>C (n.496-24G>C) n.816-24G>C n.857-24G>C n.869-24G>C | gnomAD v4 |
15 | g.40411236G>T | CA2627813819 | IVD | c.367-24G>T (n.367-24G>T) c.457-24G>T (n.457-24G>T) c.544-24G>T (n.544-24G>T) c.376-24G>T (n.376-24G>T) c.466-24G>T (n.466-24G>T) c.216-24G>T c.63-24G>T n.80-24G>T c.409-24G>T (n.409-24G>T) c.553-24G>T (n.553-24G>T) n.466-24G>T n.567-24G>T n.867-24G>T c.496-24G>T (n.496-24G>T) n.816-24G>T n.857-24G>T n.869-24G>T | gnomAD v4 |
15 | g.40411237C>A | CA2627813821 | IVD | c.367-23C>A (n.367-23C>A) c.457-23C>A (n.457-23C>A) c.544-23C>A (n.544-23C>A) c.376-23C>A (n.376-23C>A) c.466-23C>A (n.466-23C>A) c.216-23C>A c.63-23C>A n.80-23C>A c.409-23C>A (n.409-23C>A) c.553-23C>A (n.553-23C>A) n.466-23C>A n.567-23C>A n.867-23C>A c.496-23C>A (n.496-23C>A) n.816-23C>A n.857-23C>A n.869-23C>A | gnomAD v4 |
15 | g.40411237C= | CA2171765771 | IVD | c.367-23C= (n.367-23C=) c.457-23C= (n.457-23C=) c.544-23C= (n.544-23C=) c.376-23C= (n.376-23C=) c.466-23C= (n.466-23C=) c.216-23C= c.63-23C= n.80-23C= c.409-23C= (n.409-23C=) c.553-23C= (n.553-23C=) n.466-23C= n.567-23C= n.867-23C= c.496-23C= (n.496-23C=) n.816-23C= n.857-23C= n.869-23C= | |
15 | g.40411237C>G | CA617232306 | IVD | c.367-23C>G (n.367-23C>G) c.457-23C>G (n.457-23C>G) c.544-23C>G (n.544-23C>G) c.376-23C>G (n.376-23C>G) c.466-23C>G (n.466-23C>G) c.216-23C>G c.63-23C>G n.80-23C>G c.409-23C>G (n.409-23C>G) c.553-23C>G (n.553-23C>G) n.466-23C>G n.567-23C>G n.867-23C>G c.496-23C>G (n.496-23C>G) n.816-23C>G n.857-23C>G n.869-23C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411237C>T | CA2171765772 | IVD | c.367-23C>T (n.367-23C>T) c.457-23C>T (n.457-23C>T) c.544-23C>T (n.544-23C>T) c.376-23C>T (n.376-23C>T) c.466-23C>T (n.466-23C>T) c.216-23C>T c.63-23C>T n.80-23C>T c.409-23C>T (n.409-23C>T) c.553-23C>T (n.553-23C>T) n.466-23C>T n.567-23C>T n.867-23C>T c.496-23C>T (n.496-23C>T) n.816-23C>T n.857-23C>T n.869-23C>T | dbSNP gnomAD v4 |
15 | g.40411238C= | CA2171765773 | IVD | c.367-22C= (n.367-22C=) c.457-22C= (n.457-22C=) c.544-22C= (n.544-22C=) c.376-22C= (n.376-22C=) c.466-22C= (n.466-22C=) c.216-22C= c.63-22C= n.80-22C= c.409-22C= (n.409-22C=) c.553-22C= (n.553-22C=) n.466-22C= n.567-22C= n.867-22C= c.496-22C= (n.496-22C=) n.816-22C= n.857-22C= n.869-22C= | |
15 | g.40411238C>T | CA617232308 | IVD | c.367-22C>T (n.367-22C>T) c.457-22C>T (n.457-22C>T) c.544-22C>T (n.544-22C>T) c.376-22C>T (n.376-22C>T) c.466-22C>T (n.466-22C>T) c.216-22C>T c.63-22C>T n.80-22C>T c.409-22C>T (n.409-22C>T) c.553-22C>T (n.553-22C>T) n.466-22C>T n.567-22C>T n.867-22C>T c.496-22C>T (n.496-22C>T) n.816-22C>T n.857-22C>T n.869-22C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411238_40411239delinsCT | CA2171765774 | IVD | c.367-22_367-21delinsCT (n.367-22_367-21delinsCT) c.457-22_457-21delinsCT (n.457-22_457-21delinsCT) c.544-22_544-21delinsCT (n.544-22_544-21delinsCT) c.376-22_376-21delinsCT (n.376-22_376-21delinsCT) c.466-22_466-21delinsCT (n.466-22_466-21delinsCT) c.216-22_216-21delinsCT c.63-22_63-21delinsCT n.80-22_80-21delinsCT c.409-22_409-21delinsCT (n.409-22_409-21delinsCT) c.553-22_553-21delinsCT (n.553-22_553-21delinsCT) n.466-22_466-21delinsCT n.567-22_567-21delinsCT n.867-22_867-21delinsCT c.496-22_496-21delinsCT (n.496-22_496-21delinsCT) n.816-22_816-21delinsCT n.857-22_857-21delinsCT n.869-22_869-21delinsCT | |
15 | g.40411239del | CA617232310 | IVD | c.367-21del (n.367-21del) c.457-21del (n.457-21del) c.544-21del (n.544-21del) c.376-21del (n.376-21del) c.466-21del (n.466-21del) c.216-21del c.63-21del n.80-21del c.409-21del (n.409-21del) c.553-21del (n.553-21del) n.466-21del n.567-21del n.867-21del c.496-21del (n.496-21del) n.816-21del n.857-21del n.869-21del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411240G>A | CA7480637 | IVD | c.367-20G>A (n.367-20G>A) c.457-20G>A (n.457-20G>A) c.544-20G>A (n.544-20G>A) c.376-20G>A (n.376-20G>A) c.466-20G>A (n.466-20G>A) c.216-20G>A c.63-20G>A n.80-20G>A c.409-20G>A (n.409-20G>A) c.553-20G>A (n.553-20G>A) n.466-20G>A n.567-20G>A n.867-20G>A c.496-20G>A (n.496-20G>A) n.816-20G>A n.857-20G>A n.869-20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411240G>C | CA2575679129 | IVD | c.367-20G>C (n.367-20G>C) c.457-20G>C (n.457-20G>C) c.544-20G>C (n.544-20G>C) c.376-20G>C (n.376-20G>C) c.466-20G>C (n.466-20G>C) c.216-20G>C c.63-20G>C n.80-20G>C c.409-20G>C (n.409-20G>C) c.553-20G>C (n.553-20G>C) n.466-20G>C n.567-20G>C n.867-20G>C c.496-20G>C (n.496-20G>C) n.816-20G>C n.857-20G>C n.869-20G>C | |
15 | g.40411240G= | CA2171765775 | IVD | c.367-20G= (n.367-20G=) c.457-20G= (n.457-20G=) c.544-20G= (n.544-20G=) c.376-20G= (n.376-20G=) c.466-20G= (n.466-20G=) c.216-20G= c.63-20G= n.80-20G= c.409-20G= (n.409-20G=) c.553-20G= (n.553-20G=) n.466-20G= n.567-20G= n.867-20G= c.496-20G= (n.496-20G=) n.816-20G= n.857-20G= n.869-20G= | |
15 | g.40411240G>T | CA7480636 | IVD | c.367-20G>T (n.367-20G>T) c.457-20G>T (n.457-20G>T) c.544-20G>T (n.544-20G>T) c.376-20G>T (n.376-20G>T) c.466-20G>T (n.466-20G>T) c.216-20G>T c.63-20G>T n.80-20G>T c.409-20G>T (n.409-20G>T) c.553-20G>T (n.553-20G>T) n.466-20G>T n.567-20G>T n.867-20G>T c.496-20G>T (n.496-20G>T) n.816-20G>T n.857-20G>T n.869-20G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411241T>C | CA2739277985 | IVD | c.367-19T>C (n.367-19T>C) c.457-19T>C (n.457-19T>C) c.544-19T>C (n.544-19T>C) c.376-19T>C (n.376-19T>C) c.466-19T>C (n.466-19T>C) c.216-19T>C c.63-19T>C n.80-19T>C c.409-19T>C (n.409-19T>C) c.553-19T>C (n.553-19T>C) n.466-19T>C n.567-19T>C n.867-19T>C c.496-19T>C (n.496-19T>C) n.816-19T>C n.857-19T>C n.869-19T>C | ClinVar |
15 | g.40411242T>C | CA2575679130 | IVD | c.367-18T>C (n.367-18T>C) c.457-18T>C (n.457-18T>C) c.544-18T>C (n.544-18T>C) c.376-18T>C (n.376-18T>C) c.466-18T>C (n.466-18T>C) c.216-18T>C c.63-18T>C n.80-18T>C c.409-18T>C (n.409-18T>C) c.553-18T>C (n.553-18T>C) n.466-18T>C n.567-18T>C n.867-18T>C c.496-18T>C (n.496-18T>C) n.816-18T>C n.857-18T>C n.869-18T>C | gnomAD v4 |
15 | g.40411243G>C | CA7480638 | IVD | c.367-17G>C (n.367-17G>C) c.457-17G>C (n.457-17G>C) c.544-17G>C (n.544-17G>C) c.376-17G>C (n.376-17G>C) c.466-17G>C (n.466-17G>C) c.216-17G>C c.63-17G>C n.80-17G>C c.409-17G>C (n.409-17G>C) c.553-17G>C (n.553-17G>C) n.466-17G>C n.567-17G>C n.867-17G>C c.496-17G>C (n.496-17G>C) n.816-17G>C n.857-17G>C n.869-17G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411243G= | CA2171765776 | IVD | c.367-17G= (n.367-17G=) c.457-17G= (n.457-17G=) c.544-17G= (n.544-17G=) c.376-17G= (n.376-17G=) c.466-17G= (n.466-17G=) c.216-17G= c.63-17G= n.80-17G= c.409-17G= (n.409-17G=) c.553-17G= (n.553-17G=) n.466-17G= n.567-17G= n.867-17G= c.496-17G= (n.496-17G=) n.816-17G= n.857-17G= n.869-17G= | |
15 | g.40411243G>T | CA2575679131 | IVD | c.367-17G>T (n.367-17G>T) c.457-17G>T (n.457-17G>T) c.544-17G>T (n.544-17G>T) c.376-17G>T (n.376-17G>T) c.466-17G>T (n.466-17G>T) c.216-17G>T c.63-17G>T n.80-17G>T c.409-17G>T (n.409-17G>T) c.553-17G>T (n.553-17G>T) n.466-17G>T n.567-17G>T n.867-17G>T c.496-17G>T (n.496-17G>T) n.816-17G>T n.857-17G>T n.869-17G>T | |
15 | g.40411244G>A | CA2740097255 | IVD | c.367-16G>A (n.367-16G>A) c.457-16G>A (n.457-16G>A) c.544-16G>A (n.544-16G>A) c.376-16G>A (n.376-16G>A) c.466-16G>A (n.466-16G>A) c.216-16G>A c.63-16G>A n.80-16G>A c.409-16G>A (n.409-16G>A) c.553-16G>A (n.553-16G>A) n.466-16G>A n.567-16G>A n.867-16G>A c.496-16G>A (n.496-16G>A) n.816-16G>A n.857-16G>A n.869-16G>A | ClinVar |
15 | g.40411244G>C | CA7480639 | IVD | c.367-16G>C (n.367-16G>C) c.457-16G>C (n.457-16G>C) c.544-16G>C (n.544-16G>C) c.376-16G>C (n.376-16G>C) c.466-16G>C (n.466-16G>C) c.216-16G>C c.63-16G>C n.80-16G>C c.409-16G>C (n.409-16G>C) c.553-16G>C (n.553-16G>C) n.466-16G>C n.567-16G>C n.867-16G>C c.496-16G>C (n.496-16G>C) n.816-16G>C n.857-16G>C n.869-16G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411244G= | CA2171765777 | IVD | c.367-16G= (n.367-16G=) c.457-16G= (n.457-16G=) c.544-16G= (n.544-16G=) c.376-16G= (n.376-16G=) c.466-16G= (n.466-16G=) c.216-16G= c.63-16G= n.80-16G= c.409-16G= (n.409-16G=) c.553-16G= (n.553-16G=) n.466-16G= n.567-16G= n.867-16G= c.496-16G= (n.496-16G=) n.816-16G= n.857-16G= n.869-16G= | |
15 | g.40411245G>A | CA7480640 | IVD | c.367-15G>A (n.367-15G>A) c.457-15G>A (n.457-15G>A) c.544-15G>A (n.544-15G>A) c.376-15G>A (n.376-15G>A) c.466-15G>A (n.466-15G>A) c.216-15G>A c.63-15G>A n.80-15G>A c.409-15G>A (n.409-15G>A) c.553-15G>A (n.553-15G>A) n.466-15G>A n.567-15G>A n.867-15G>A c.496-15G>A (n.496-15G>A) n.816-15G>A n.857-15G>A n.869-15G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411245G= | CA2171765778 | IVD | c.367-15G= (n.367-15G=) c.457-15G= (n.457-15G=) c.544-15G= (n.544-15G=) c.376-15G= (n.376-15G=) c.466-15G= (n.466-15G=) c.216-15G= c.63-15G= n.80-15G= c.409-15G= (n.409-15G=) c.553-15G= (n.553-15G=) n.466-15G= n.567-15G= n.867-15G= c.496-15G= (n.496-15G=) n.816-15G= n.857-15G= n.869-15G= | |
15 | g.40411246G>T | CA2627813829 | IVD | c.367-14G>T (n.367-14G>T) c.457-14G>T (n.457-14G>T) c.544-14G>T (n.544-14G>T) c.376-14G>T (n.376-14G>T) c.466-14G>T (n.466-14G>T) c.216-14G>T c.63-14G>T n.80-14G>T c.409-14G>T (n.409-14G>T) c.553-14G>T (n.553-14G>T) n.466-14G>T n.567-14G>T n.867-14G>T c.496-14G>T (n.496-14G>T) n.816-14G>T n.857-14G>T n.869-14G>T | gnomAD v4 |
15 | g.40411247G>A | CA2627813830 | IVD | c.367-13G>A (n.367-13G>A) c.457-13G>A (n.457-13G>A) c.544-13G>A (n.544-13G>A) c.376-13G>A (n.376-13G>A) c.466-13G>A (n.466-13G>A) c.216-13G>A c.63-13G>A n.80-13G>A c.409-13G>A (n.409-13G>A) c.553-13G>A (n.553-13G>A) n.466-13G>A n.567-13G>A n.867-13G>A c.496-13G>A (n.496-13G>A) n.816-13G>A n.857-13G>A n.869-13G>A | gnomAD v4 |
15 | g.40411248T>C | CA2627813831 | IVD | c.367-12T>C (n.367-12T>C) c.457-12T>C (n.457-12T>C) c.544-12T>C (n.544-12T>C) c.376-12T>C (n.376-12T>C) c.466-12T>C (n.466-12T>C) c.216-12T>C c.63-12T>C n.80-12T>C c.409-12T>C (n.409-12T>C) c.553-12T>C (n.553-12T>C) n.466-12T>C n.567-12T>C n.867-12T>C c.496-12T>C (n.496-12T>C) n.816-12T>C n.857-12T>C n.869-12T>C | ClinVar gnomAD v4 |
15 | g.40411249T>C | CA2171765780 | IVD | c.367-11T>C (n.367-11T>C) c.457-11T>C (n.457-11T>C) c.544-11T>C (n.544-11T>C) c.376-11T>C (n.376-11T>C) c.466-11T>C (n.466-11T>C) c.216-11T>C c.63-11T>C n.80-11T>C c.409-11T>C (n.409-11T>C) c.553-11T>C (n.553-11T>C) n.466-11T>C n.567-11T>C n.867-11T>C c.496-11T>C (n.496-11T>C) n.816-11T>C n.857-11T>C n.869-11T>C | dbSNP |
15 | g.40411249T= | CA2171765779 | IVD | c.367-11T= (n.367-11T=) c.457-11T= (n.457-11T=) c.544-11T= (n.544-11T=) c.376-11T= (n.376-11T=) c.466-11T= (n.466-11T=) c.216-11T= c.63-11T= n.80-11T= c.409-11T= (n.409-11T=) c.553-11T= (n.553-11T=) n.466-11T= n.567-11T= n.867-11T= c.496-11T= (n.496-11T=) n.816-11T= n.857-11T= n.869-11T= | |
15 | g.40411251T>C | CA617232314 | IVD | c.367-9T>C (n.367-9T>C) c.457-9T>C (n.457-9T>C) c.544-9T>C (n.544-9T>C) c.376-9T>C (n.376-9T>C) c.466-9T>C (n.466-9T>C) c.216-9T>C c.63-9T>C n.80-9T>C c.409-9T>C (n.409-9T>C) c.553-9T>C (n.553-9T>C) n.466-9T>C n.567-9T>C n.867-9T>C c.496-9T>C (n.496-9T>C) n.816-9T>C n.857-9T>C n.869-9T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411251T= | CA2171765781 | IVD | c.367-9T= (n.367-9T=) c.457-9T= (n.457-9T=) c.544-9T= (n.544-9T=) c.376-9T= (n.376-9T=) c.466-9T= (n.466-9T=) c.216-9T= c.63-9T= n.80-9T= c.409-9T= (n.409-9T=) c.553-9T= (n.553-9T=) n.466-9T= n.567-9T= n.867-9T= c.496-9T= (n.496-9T=) n.816-9T= n.857-9T= n.869-9T= | |
15 | g.40411252C>G | CA2627813832 | IVD | c.367-8C>G (n.367-8C>G) c.457-8C>G (n.457-8C>G) c.544-8C>G (n.544-8C>G) c.376-8C>G (n.376-8C>G) c.466-8C>G (n.466-8C>G) c.216-8C>G c.63-8C>G n.80-8C>G c.409-8C>G (n.409-8C>G) c.553-8C>G (n.553-8C>G) n.466-8C>G n.567-8C>G n.867-8C>G c.496-8C>G (n.496-8C>G) n.816-8C>G n.857-8C>G n.869-8C>G | gnomAD v4 |
15 | g.40411253C>T | CA2499222907 | IVD | c.367-7C>T (n.367-7C>T) c.457-7C>T (n.457-7C>T) c.544-7C>T (n.544-7C>T) c.376-7C>T (n.376-7C>T) c.466-7C>T (n.466-7C>T) c.216-7C>T c.63-7C>T n.80-7C>T c.409-7C>T (n.409-7C>T) c.553-7C>T (n.553-7C>T) n.466-7C>T n.567-7C>T n.867-7C>T c.496-7C>T (n.496-7C>T) n.816-7C>T n.857-7C>T n.869-7C>T | ClinVar dbSNP |
15 | g.40411256G>A | CA2499222908 | IVD | c.367-4G>A (n.367-4G>A) c.457-4G>A (n.457-4G>A) c.544-4G>A (n.544-4G>A) c.376-4G>A (n.376-4G>A) c.466-4G>A (n.466-4G>A) c.216-4G>A c.63-4G>A n.80-4G>A c.409-4G>A (n.409-4G>A) c.553-4G>A (n.553-4G>A) n.466-4G>A n.567-4G>A n.867-4G>A c.496-4G>A (n.496-4G>A) n.816-4G>A n.857-4G>A n.869-4G>A | ClinVar dbSNP gnomAD v4 |
15 | g.40411257C= | CA2171765782 | IVD | c.367-3C= (n.367-3C=) c.457-3C= (n.457-3C=) c.544-3C= (n.544-3C=) c.376-3C= (n.376-3C=) c.466-3C= (n.466-3C=) c.216-3C= c.63-3C= n.80-3C= c.409-3C= (n.409-3C=) c.553-3C= (n.553-3C=) n.466-3C= n.567-3C= n.867-3C= c.496-3C= (n.496-3C=) n.816-3C= n.857-3C= n.869-3C= | |
15 | g.40411257C>G | CA7480641 | IVD | c.367-3C>G (n.367-3C>G) c.457-3C>G (n.457-3C>G) c.544-3C>G (n.544-3C>G) c.376-3C>G (n.376-3C>G) c.466-3C>G (n.466-3C>G) c.216-3C>G c.63-3C>G n.80-3C>G c.409-3C>G (n.409-3C>G) c.553-3C>G (n.553-3C>G) n.466-3C>G n.567-3C>G n.867-3C>G c.496-3C>G (n.496-3C>G) n.816-3C>G n.857-3C>G n.869-3C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411257C>T | CA2580089366 | IVD | c.367-3C>T (n.367-3C>T) c.457-3C>T (n.457-3C>T) c.544-3C>T (n.544-3C>T) c.376-3C>T (n.376-3C>T) c.466-3C>T (n.466-3C>T) c.216-3C>T c.63-3C>T n.80-3C>T c.409-3C>T (n.409-3C>T) c.553-3C>T (n.553-3C>T) n.466-3C>T n.567-3C>T n.867-3C>T c.496-3C>T (n.496-3C>T) n.816-3C>T n.857-3C>T n.869-3C>T | ClinVar gnomAD v4 |
15 | g.40411257_40411258delinsCA | CA2171765783 | IVD | c.367-3_367-2delinsCA (n.367-3_367-2delinsCA) c.457-3_457-2delinsCA (n.457-3_457-2delinsCA) c.544-3_544-2delinsCA (n.544-3_544-2delinsCA) c.376-3_376-2delinsCA (n.376-3_376-2delinsCA) c.466-3_466-2delinsCA (n.466-3_466-2delinsCA) c.216-3_216-2delinsCA c.63-3_63-2delinsCA n.80-3_80-2delinsCA c.409-3_409-2delinsCA (n.409-3_409-2delinsCA) c.553-3_553-2delinsCA (n.553-3_553-2delinsCA) n.466-3_466-2delinsCA n.567-3_567-2delinsCA n.867-3_867-2delinsCA c.496-3_496-2delinsCA (n.496-3_496-2delinsCA) n.816-3_816-2delinsCA n.857-3_857-2delinsCA n.869-3_869-2delinsCA | |
15 | g.40411257_40411258delinsGG | CA273890 | IVD | c.367-3_367-2delinsGG (n.367-3_367-2delinsGG) c.457-3_457-2delinsGG (n.457-3_457-2delinsGG) c.544-3_544-2delinsGG (n.544-3_544-2delinsGG) c.376-3_376-2delinsGG (n.376-3_376-2delinsGG) c.466-3_466-2delinsGG (n.466-3_466-2delinsGG) c.216-3_216-2delinsGG c.63-3_63-2delinsGG n.80-3_80-2delinsGG c.409-3_409-2delinsGG (n.409-3_409-2delinsGG) c.553-3_553-2delinsGG (n.553-3_553-2delinsGG) n.466-3_466-2delinsGG n.567-3_567-2delinsGG n.867-3_867-2delinsGG c.496-3_496-2delinsGG (n.496-3_496-2delinsGG) n.816-3_816-2delinsGG n.857-3_857-2delinsGG n.869-3_869-2delinsGG | ClinVar dbSNP |
15 | g.40411258A= | CA2171765784 | IVD | c.367-2A= (n.367-2A=) c.457-2A= (n.457-2A=) c.544-2A= (n.544-2A=) c.376-2A= (n.376-2A=) c.466-2A= (n.466-2A=) c.216-2A= c.63-2A= n.80-2A= c.409-2A= (n.409-2A=) c.553-2A= (n.553-2A=) n.466-2A= n.567-2A= n.867-2A= c.496-2A= (n.496-2A=) n.816-2A= n.857-2A= n.869-2A= | |
15 | g.40411258A>C | CA7480642 | IVD | c.367-2A>C (n.367-2A>C) c.457-2A>C (n.457-2A>C) c.544-2A>C (n.544-2A>C) c.376-2A>C (n.376-2A>C) c.466-2A>C (n.466-2A>C) c.216-2A>C c.63-2A>C n.80-2A>C c.409-2A>C (n.409-2A>C) c.553-2A>C (n.553-2A>C) n.466-2A>C n.567-2A>C n.867-2A>C c.496-2A>C (n.496-2A>C) n.816-2A>C n.857-2A>C n.869-2A>C | ClinVar dbSNP ExAC gnomAD v2 |
15 | g.40411258A>G | CA273883 | IVD | c.367-2A>G (n.367-2A>G) c.457-2A>G (n.457-2A>G) c.544-2A>G (n.544-2A>G) c.376-2A>G (n.376-2A>G) c.466-2A>G (n.466-2A>G) c.216-2A>G c.63-2A>G n.80-2A>G c.409-2A>G (n.409-2A>G) c.553-2A>G (n.553-2A>G) n.466-2A>G n.567-2A>G n.867-2A>G c.496-2A>G (n.496-2A>G) n.816-2A>G n.857-2A>G n.869-2A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411258A>T | CA391716911 | IVD | c.367-2A>T (n.367-2A>T) c.457-2A>T (n.457-2A>T) c.544-2A>T (n.544-2A>T) c.376-2A>T (n.376-2A>T) c.466-2A>T (n.466-2A>T) c.216-2A>T c.63-2A>T n.80-2A>T c.409-2A>T (n.409-2A>T) c.553-2A>T (n.553-2A>T) n.466-2A>T n.567-2A>T n.867-2A>T c.496-2A>T (n.496-2A>T) n.816-2A>T n.857-2A>T n.869-2A>T | ClinVar dbSNP |
15 | g.40411259G>A | CA391716914 | IVD | c.367-1G>A (n.367-1G>A) c.457-1G>A (n.457-1G>A) c.544-1G>A (n.544-1G>A) c.376-1G>A (n.376-1G>A) c.466-1G>A (n.466-1G>A) c.216-1G>A c.63-1G>A n.80-1G>A c.409-1G>A (n.409-1G>A) c.553-1G>A (n.553-1G>A) n.466-1G>A n.567-1G>A n.867-1G>A c.496-1G>A (n.496-1G>A) n.816-1G>A n.857-1G>A n.869-1G>A | ClinVar |
15 | g.40411259G>C | CA7480643 | IVD | c.367-1G>C (n.367-1G>C) c.457-1G>C (n.457-1G>C) c.544-1G>C (n.544-1G>C) c.376-1G>C (n.376-1G>C) c.466-1G>C (n.466-1G>C) c.216-1G>C c.63-1G>C n.80-1G>C c.409-1G>C (n.409-1G>C) c.553-1G>C (n.553-1G>C) n.466-1G>C n.567-1G>C n.867-1G>C c.496-1G>C (n.496-1G>C) n.816-1G>C n.857-1G>C n.869-1G>C | dbSNP ExAC gnomAD v2 |
15 | g.40411259G= | CA2171765785 | IVD | c.367-1G= (n.367-1G=) c.457-1G= (n.457-1G=) c.544-1G= (n.544-1G=) c.376-1G= (n.376-1G=) c.466-1G= (n.466-1G=) c.216-1G= c.63-1G= n.80-1G= c.409-1G= (n.409-1G=) c.553-1G= (n.553-1G=) n.466-1G= n.567-1G= n.867-1G= c.496-1G= (n.496-1G=) n.816-1G= n.857-1G= n.869-1G= | |
15 | g.40411259G>T | CA391716916 | IVD | c.367-1G>T (n.367-1G>T) c.457-1G>T (n.457-1G>T) c.544-1G>T (n.544-1G>T) c.376-1G>T (n.376-1G>T) c.466-1G>T (n.466-1G>T) c.216-1G>T c.63-1G>T n.80-1G>T c.409-1G>T (n.409-1G>T) c.553-1G>T (n.553-1G>T) n.466-1G>T n.567-1G>T n.867-1G>T c.496-1G>T (n.496-1G>T) n.816-1G>T n.857-1G>T n.869-1G>T | |
15 | g.40411260C>A | CA391716919 | IVD | c.367C>A (p.Leu123Met) c.457C>A (p.Leu153Met) c.544C>A (p.Leu182Met) c.376C>A (p.Leu126Met) c.466C>A (p.Leu156Met) c.216C>A c.63C>A n.80C>A c.409C>A (p.Leu137Met) c.553C>A (p.Leu185Met) n.466C>A n.567C>A n.867C>A c.496C>A (p.Leu166Met) n.816C>A n.857C>A n.869C>A | |
15 | g.40411260C= | CA2171765786 | IVD | c.367C= (p.Leu123=) c.457C= (p.Leu153=) c.544C= (p.Leu182=) c.376C= (p.Leu126=) c.466C= (p.Leu156=) c.216C= c.63C= n.80C= c.409C= (p.Leu137=) c.553C= (p.Leu185=) n.466C= n.567C= n.867C= c.496C= (p.Leu166=) n.816C= n.857C= n.869C= | |
15 | g.40411260C>G | CA391716921 | IVD | c.367C>G (p.Leu123Val) c.457C>G (p.Leu153Val) c.544C>G (p.Leu182Val) c.376C>G (p.Leu126Val) c.466C>G (p.Leu156Val) c.216C>G c.63C>G n.80C>G c.409C>G (p.Leu137Val) c.553C>G (p.Leu185Val) n.466C>G n.567C>G n.867C>G c.496C>G (p.Leu166Val) n.816C>G n.857C>G n.869C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411260C>T | CA7480644 | IVD | c.367C>T (p.Leu123=) c.457C>T (p.Leu153=) c.544C>T (p.Leu182=) c.376C>T (p.Leu126=) c.466C>T (p.Leu156=) c.216C>T c.63C>T n.80C>T c.409C>T (p.Leu137=) c.553C>T (p.Leu185=) n.466C>T n.567C>T n.867C>T c.496C>T (p.Leu166=) n.816C>T n.857C>T n.869C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411261T>A | CA391716925 | IVD | c.368T>A (p.Leu123Gln) c.458T>A (p.Leu153Gln) c.545T>A (p.Leu182Gln) c.377T>A (p.Leu126Gln) c.467T>A (p.Leu156Gln) c.217T>A c.64T>A n.81T>A c.410T>A (p.Leu137Gln) c.554T>A (p.Leu185Gln) n.467T>A n.568T>A n.868T>A c.497T>A (p.Leu166Gln) n.817T>A n.858T>A n.870T>A | |
15 | g.40411261T>C | CA391716927 | IVD | c.368T>C (p.Leu123Pro) c.458T>C (p.Leu153Pro) c.545T>C (p.Leu182Pro) c.377T>C (p.Leu126Pro) c.467T>C (p.Leu156Pro) c.217T>C c.64T>C n.81T>C c.410T>C (p.Leu137Pro) c.554T>C (p.Leu185Pro) n.467T>C n.568T>C n.868T>C c.497T>C (p.Leu166Pro) n.817T>C n.858T>C n.870T>C | |
15 | g.40411261T>G | CA391716929 | IVD | c.368T>G (p.Leu123Arg) c.458T>G (p.Leu153Arg) c.545T>G (p.Leu182Arg) c.377T>G (p.Leu126Arg) c.467T>G (p.Leu156Arg) c.217T>G c.64T>G n.81T>G c.410T>G (p.Leu137Arg) c.554T>G (p.Leu185Arg) n.467T>G n.568T>G n.868T>G c.497T>G (p.Leu166Arg) n.817T>G n.858T>G n.870T>G | |
15 | g.40411262G>A | CA268780144 | IVD | c.369G>A (p.Leu123=) c.459G>A (p.Leu153=) c.546G>A (p.Leu182=) c.378G>A (p.Leu126=) c.468G>A (p.Leu156=) c.218G>A c.65G>A n.82G>A c.411G>A (p.Leu137=) c.555G>A (p.Leu185=) n.468G>A n.569G>A n.869G>A c.498G>A (p.Leu166=) n.818G>A n.859G>A n.871G>A | dbSNP |
15 | g.40411262G>C | CA489739798 | IVD | c.369G>C (p.Leu123=) c.459G>C (p.Leu153=) c.546G>C (p.Leu182=) c.378G>C (p.Leu126=) c.468G>C (p.Leu156=) c.218G>C c.65G>C n.82G>C c.411G>C (p.Leu137=) c.555G>C (p.Leu185=) n.468G>C n.569G>C n.869G>C c.498G>C (p.Leu166=) n.818G>C n.859G>C n.871G>C | ClinVar dbSNP gnomAD v4 |
15 | g.40411262G= | CA2171765787 | IVD | c.369G= (p.Leu123=) c.459G= (p.Leu153=) c.546G= (p.Leu182=) c.378G= (p.Leu126=) c.468G= (p.Leu156=) c.218G= c.65G= n.82G= c.411G= (p.Leu137=) c.555G= (p.Leu185=) n.468G= n.569G= n.869G= c.498G= (p.Leu166=) n.818G= n.859G= n.871G= | |
15 | g.40411262G>T | CA489739795 | IVD | c.369G>T (p.Leu123=) c.459G>T (p.Leu153=) c.546G>T (p.Leu182=) c.378G>T (p.Leu126=) c.468G>T (p.Leu156=) c.218G>T c.65G>T n.82G>T c.411G>T (p.Leu137=) c.555G>T (p.Leu185=) n.468G>T n.569G>T n.869G>T c.498G>T (p.Leu166=) n.818G>T n.859G>T n.871G>T | |
15 | g.40411263A= | CA2171765788 | IVD | c.370A= (p.Ile124=) c.460A= (p.Ile154=) c.547A= (p.Ile183=) c.379A= (p.Ile127=) c.469A= (p.Ile157=) c.219A= c.66A= n.83A= c.412A= (p.Ile138=) c.556A= (p.Ile186=) n.469A= n.570A= n.870A= c.499A= (p.Ile167=) n.819A= n.860A= n.872A= | |
15 | g.40411263A>C | CA391716933 | IVD | c.370A>C (p.Ile124Leu) c.460A>C (p.Ile154Leu) c.547A>C (p.Ile183Leu) c.379A>C (p.Ile127Leu) c.469A>C (p.Ile157Leu) c.219A>C c.66A>C n.83A>C c.412A>C (p.Ile138Leu) c.556A>C (p.Ile186Leu) n.469A>C n.570A>C n.870A>C c.499A>C (p.Ile167Leu) n.819A>C n.860A>C n.872A>C | |
15 | g.40411263A>G | CA391716935 | IVD | c.370A>G (p.Ile124Val) c.460A>G (p.Ile154Val) c.547A>G (p.Ile183Val) c.379A>G (p.Ile127Val) c.469A>G (p.Ile157Val) c.219A>G c.66A>G n.83A>G c.412A>G (p.Ile138Val) c.556A>G (p.Ile186Val) n.469A>G n.570A>G n.870A>G c.499A>G (p.Ile167Val) n.819A>G n.860A>G n.872A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40411263A>T | CA391716936 | IVD | c.370A>T (p.Ile124Phe) c.460A>T (p.Ile154Phe) c.547A>T (p.Ile183Phe) c.379A>T (p.Ile127Phe) c.469A>T (p.Ile157Phe) c.219A>T c.66A>T n.83A>T c.412A>T (p.Ile138Phe) c.556A>T (p.Ile186Phe) n.469A>T n.570A>T n.870A>T c.499A>T (p.Ile167Phe) n.819A>T n.860A>T n.872A>T | |
15 | g.40411264T>A | CA391716943 | IVD | c.371T>A (p.Ile124Asn) c.461T>A (p.Ile154Asn) c.548T>A (p.Ile183Asn) c.380T>A (p.Ile127Asn) c.470T>A (p.Ile157Asn) c.220T>A c.67T>A n.84T>A c.413T>A (p.Ile138Asn) c.557T>A (p.Ile186Asn) n.470T>A n.571T>A n.871T>A c.500T>A (p.Ile167Asn) n.820T>A n.861T>A n.873T>A | |
15 | g.40411264T>C | CA391716941 | IVD | c.371T>C (p.Ile124Thr) c.461T>C (p.Ile154Thr) c.548T>C (p.Ile183Thr) c.380T>C (p.Ile127Thr) c.470T>C (p.Ile157Thr) c.220T>C c.67T>C n.84T>C c.413T>C (p.Ile138Thr) c.557T>C (p.Ile186Thr) n.470T>C n.571T>C n.871T>C c.500T>C (p.Ile167Thr) n.820T>C n.861T>C n.873T>C | |
15 | g.40411264T>G | CA391716940 | IVD | c.371T>G (p.Ile124Ser) c.461T>G (p.Ile154Ser) c.548T>G (p.Ile183Ser) c.380T>G (p.Ile127Ser) c.470T>G (p.Ile157Ser) c.220T>G c.67T>G n.84T>G c.413T>G (p.Ile138Ser) c.557T>G (p.Ile186Ser) n.470T>G n.571T>G n.871T>G c.500T>G (p.Ile167Ser) n.820T>G n.861T>G n.873T>G | |
15 | g.40411265C>A | CA489739809 | IVD | c.372C>A (p.Ile124=) c.462C>A (p.Ile154=) c.549C>A (p.Ile183=) c.381C>A (p.Ile127=) c.471C>A (p.Ile157=) c.221C>A c.68C>A n.85C>A c.414C>A (p.Ile138=) c.558C>A (p.Ile186=) n.471C>A n.572C>A n.872C>A c.501C>A (p.Ile167=) n.821C>A n.862C>A n.874C>A | ClinVar |
15 | g.40411265C= | CA2171765789 | IVD | c.372C= (p.Ile124=) c.462C= (p.Ile154=) c.549C= (p.Ile183=) c.381C= (p.Ile127=) c.471C= (p.Ile157=) c.221C= c.68C= n.85C= c.414C= (p.Ile138=) c.558C= (p.Ile186=) n.471C= n.572C= n.872C= c.501C= (p.Ile167=) n.821C= n.862C= n.874C= | |
15 | g.40411265C>G | CA391716946 | IVD | c.372C>G (p.Ile124Met) c.462C>G (p.Ile154Met) c.549C>G (p.Ile183Met) c.381C>G (p.Ile127Met) c.471C>G (p.Ile157Met) c.221C>G c.68C>G n.85C>G c.414C>G (p.Ile138Met) c.558C>G (p.Ile186Met) n.471C>G n.572C>G n.872C>G c.501C>G (p.Ile167Met) n.821C>G n.862C>G n.874C>G | |
15 | g.40411265C>T | CA489739814 | IVD | c.372C>T (p.Ile124=) c.462C>T (p.Ile154=) c.549C>T (p.Ile183=) c.381C>T (p.Ile127=) c.471C>T (p.Ile157=) c.221C>T c.68C>T n.85C>T c.414C>T (p.Ile138=) c.558C>T (p.Ile186=) n.471C>T n.572C>T n.872C>T c.501C>T (p.Ile167=) n.821C>T n.862C>T n.874C>T | dbSNP gnomAD v4 |
15 | g.40411266A= | CA2171765790 | IVD | c.373A= (p.Ser125=) c.463A= (p.Ser155=) c.550A= (p.Ser184=) c.382A= (p.Ser128=) c.472A= (p.Ser158=) c.222A= c.69A= n.86A= c.415A= (p.Ser139=) c.559A= (p.Ser187=) n.472A= n.573A= n.873A= c.502A= (p.Ser168=) n.822A= n.863A= n.875A= | |
15 | g.40411266A>C | CA391716948 | IVD | c.373A>C (p.Ser125Arg) c.463A>C (p.Ser155Arg) c.550A>C (p.Ser184Arg) c.382A>C (p.Ser128Arg) c.472A>C (p.Ser158Arg) c.222A>C c.69A>C n.86A>C c.415A>C (p.Ser139Arg) c.559A>C (p.Ser187Arg) n.472A>C n.573A>C n.873A>C c.502A>C (p.Ser168Arg) n.822A>C n.863A>C n.875A>C | |
15 | g.40411266A>G | CA391716950 | IVD | c.373A>G (p.Ser125Gly) c.463A>G (p.Ser155Gly) c.550A>G (p.Ser184Gly) c.382A>G (p.Ser128Gly) c.472A>G (p.Ser158Gly) c.222A>G c.69A>G n.86A>G c.415A>G (p.Ser139Gly) c.559A>G (p.Ser187Gly) n.472A>G n.573A>G n.873A>G c.502A>G (p.Ser168Gly) n.822A>G n.863A>G n.875A>G | gnomAD v4 |
15 | g.40411266A>T | CA391716952 | IVD | c.373A>T (p.Ser125Cys) c.463A>T (p.Ser155Cys) c.550A>T (p.Ser184Cys) c.382A>T (p.Ser128Cys) c.472A>T (p.Ser158Cys) c.222A>T c.69A>T n.86A>T c.415A>T (p.Ser139Cys) c.559A>T (p.Ser187Cys) n.472A>T n.573A>T n.873A>T c.502A>T (p.Ser168Cys) n.822A>T n.863A>T n.875A>T | |
15 | g.40411267G>A | CA7480645 | IVD | c.374G>A (p.Ser125Asn) c.464G>A (p.Ser155Asn) c.551G>A (p.Ser184Asn) c.383G>A (p.Ser128Asn) c.473G>A (p.Ser158Asn) c.223G>A c.70G>A n.87G>A c.416G>A (p.Ser139Asn) c.560G>A (p.Ser187Asn) n.473G>A n.574G>A n.874G>A c.503G>A (p.Ser168Asn) n.823G>A n.864G>A n.876G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411267G>C | CA391716958 | IVD | c.374G>C (p.Ser125Thr) c.464G>C (p.Ser155Thr) c.551G>C (p.Ser184Thr) c.383G>C (p.Ser128Thr) c.473G>C (p.Ser158Thr) c.223G>C c.70G>C n.87G>C c.416G>C (p.Ser139Thr) c.560G>C (p.Ser187Thr) n.473G>C n.574G>C n.874G>C c.503G>C (p.Ser168Thr) n.823G>C n.864G>C n.876G>C | |
15 | g.40411267G= | CA2171765791 | IVD | c.374G= (p.Ser125=) c.464G= (p.Ser155=) c.551G= (p.Ser184=) c.383G= (p.Ser128=) c.473G= (p.Ser158=) c.223G= c.70G= n.87G= c.416G= (p.Ser139=) c.560G= (p.Ser187=) n.473G= n.574G= n.874G= c.503G= (p.Ser168=) n.823G= n.864G= n.876G= | |
15 | g.40411267G>T | CA391716961 | IVD | c.374G>T (p.Ser125Ile) c.464G>T (p.Ser155Ile) c.551G>T (p.Ser184Ile) c.383G>T (p.Ser128Ile) c.473G>T (p.Ser158Ile) c.223G>T c.70G>T n.87G>T c.416G>T (p.Ser139Ile) c.560G>T (p.Ser187Ile) n.473G>T n.574G>T n.874G>T c.503G>T (p.Ser168Ile) n.823G>T n.864G>T n.876G>T | dbSNP |
15 | g.40411270_40411272dup | CA312667 | IVD | c.377_379dup (p.Gly126_Glu127insGly) c.467_469dup (p.Gly156_Glu157insGly) c.554_556dup (p.Gly185_Glu186insGly) c.386_388dup (p.Gly129_Glu130insGly) c.476_478dup (p.Gly159_Glu160insGly) c.226_228dup c.73_75dup n.90_92dup c.419_421dup (p.Gly140_Glu141insGly) c.563_565dup (p.Gly188_Glu189insGly) n.476_478dup n.577_579dup n.877_879dup c.506_508dup (p.Gly169_Glu170insGly) n.826_828dup n.867_869dup n.879_881dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411268T>A | CA391716965 | IVD | c.375T>A (p.Ser125Arg) c.465T>A (p.Ser155Arg) c.552T>A (p.Ser184Arg) c.384T>A (p.Ser128Arg) c.474T>A (p.Ser158Arg) c.224T>A c.71T>A n.88T>A c.417T>A (p.Ser139Arg) c.561T>A (p.Ser187Arg) n.474T>A n.575T>A n.875T>A c.504T>A (p.Ser168Arg) n.824T>A n.865T>A n.877T>A | |
15 | g.40411268T>C | CA489739834 | IVD | c.375T>C (p.Ser125=) c.465T>C (p.Ser155=) c.552T>C (p.Ser184=) c.384T>C (p.Ser128=) c.474T>C (p.Ser158=) c.224T>C c.71T>C n.88T>C c.417T>C (p.Ser139=) c.561T>C (p.Ser187=) n.474T>C n.575T>C n.875T>C c.504T>C (p.Ser168=) n.824T>C n.865T>C n.877T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40411268T>G | CA391716967 | IVD | c.375T>G (p.Ser125Arg) c.465T>G (p.Ser155Arg) c.552T>G (p.Ser184Arg) c.384T>G (p.Ser128Arg) c.474T>G (p.Ser158Arg) c.224T>G c.71T>G n.88T>G c.417T>G (p.Ser139Arg) c.561T>G (p.Ser187Arg) n.474T>G n.575T>G n.875T>G c.504T>G (p.Ser168Arg) n.824T>G n.865T>G n.877T>G | |
15 | g.40411268T= | CA2171765792 | IVD | c.375T= (p.Ser125=) c.465T= (p.Ser155=) c.552T= (p.Ser184=) c.384T= (p.Ser128=) c.474T= (p.Ser158=) c.224T= c.71T= n.88T= c.417T= (p.Ser139=) c.561T= (p.Ser187=) n.474T= n.575T= n.875T= c.504T= (p.Ser168=) n.824T= n.865T= n.877T= | |
15 | g.40411269G>A | CA391716968 | IVD | c.376G>A (p.Gly126Ser) c.466G>A (p.Gly156Ser) c.553G>A (p.Gly185Ser) c.385G>A (p.Gly129Ser) c.475G>A (p.Gly159Ser) c.225G>A c.72G>A n.89G>A c.418G>A (p.Gly140Ser) c.562G>A (p.Gly188Ser) n.475G>A n.576G>A n.876G>A c.505G>A (p.Gly169Ser) n.825G>A n.866G>A n.878G>A | ClinVar dbSNP |
15 | g.40411269G>C | CA391716969 | IVD | c.376G>C (p.Gly126Arg) c.466G>C (p.Gly156Arg) c.553G>C (p.Gly185Arg) c.385G>C (p.Gly129Arg) c.475G>C (p.Gly159Arg) c.225G>C c.72G>C n.89G>C c.418G>C (p.Gly140Arg) c.562G>C (p.Gly188Arg) n.475G>C n.576G>C n.876G>C c.505G>C (p.Gly169Arg) n.825G>C n.866G>C n.878G>C | |
15 | g.40411269G= | CA2171765793 | IVD | c.376G= (p.Gly126=) c.466G= (p.Gly156=) c.553G= (p.Gly185=) c.385G= (p.Gly129=) c.475G= (p.Gly159=) c.225G= c.72G= n.89G= c.418G= (p.Gly140=) c.562G= (p.Gly188=) n.475G= n.576G= n.876G= c.505G= (p.Gly169=) n.825G= n.866G= n.878G= | |
15 | g.40411269G>T | CA391716971 | IVD | c.376G>T (p.Gly126Cys) c.466G>T (p.Gly156Cys) c.553G>T (p.Gly185Cys) c.385G>T (p.Gly129Cys) c.475G>T (p.Gly159Cys) c.225G>T c.72G>T n.89G>T c.418G>T (p.Gly140Cys) c.562G>T (p.Gly188Cys) n.475G>T n.576G>T n.876G>T c.505G>T (p.Gly169Cys) n.825G>T n.866G>T n.878G>T | |
15 | g.40411270G>A | CA391716976 | IVD | c.377G>A (p.Gly126Asp) c.467G>A (p.Gly156Asp) c.554G>A (p.Gly185Asp) c.386G>A (p.Gly129Asp) c.476G>A (p.Gly159Asp) c.226G>A c.73G>A n.90G>A c.419G>A (p.Gly140Asp) c.563G>A (p.Gly188Asp) n.476G>A n.577G>A n.877G>A c.506G>A (p.Gly169Asp) n.826G>A n.867G>A n.879G>A | gnomAD v4 COSMIC |
15 | g.40411270G>C | CA391716972 | IVD | c.377G>C (p.Gly126Ala) c.467G>C (p.Gly156Ala) c.554G>C (p.Gly185Ala) c.386G>C (p.Gly129Ala) c.476G>C (p.Gly159Ala) c.226G>C c.73G>C n.90G>C c.419G>C (p.Gly140Ala) c.563G>C (p.Gly188Ala) n.476G>C n.577G>C n.877G>C c.506G>C (p.Gly169Ala) n.826G>C n.867G>C n.879G>C | ClinVar dbSNP |
15 | g.40411270G= | CA2171765794 | IVD | c.377G= (p.Gly126=) c.467G= (p.Gly156=) c.554G= (p.Gly185=) c.386G= (p.Gly129=) c.476G= (p.Gly159=) c.226G= c.73G= n.90G= c.419G= (p.Gly140=) c.563G= (p.Gly188=) n.476G= n.577G= n.877G= c.506G= (p.Gly169=) n.826G= n.867G= n.879G= | |
15 | g.40411270G>T | CA391716974 | IVD | c.377G>T (p.Gly126Val) c.467G>T (p.Gly156Val) c.554G>T (p.Gly185Val) c.386G>T (p.Gly129Val) c.476G>T (p.Gly159Val) c.226G>T c.73G>T n.90G>T c.419G>T (p.Gly140Val) c.563G>T (p.Gly188Val) n.476G>T n.577G>T n.877G>T c.506G>T (p.Gly169Val) n.826G>T n.867G>T n.879G>T | gnomAD v4 |
15 | g.40411271T>A | CA489739867 | IVD | c.378T>A (p.Gly126=) c.468T>A (p.Gly156=) c.555T>A (p.Gly185=) c.387T>A (p.Gly129=) c.477T>A (p.Gly159=) c.227T>A c.74T>A n.91T>A c.420T>A (p.Gly140=) c.564T>A (p.Gly188=) n.477T>A n.578T>A n.878T>A c.507T>A (p.Gly169=) n.827T>A n.868T>A n.880T>A | ClinVar |
15 | g.40411271T>C | CA489739872 | IVD | c.378T>C (p.Gly126=) c.468T>C (p.Gly156=) c.555T>C (p.Gly185=) c.387T>C (p.Gly129=) c.477T>C (p.Gly159=) c.227T>C c.74T>C n.91T>C c.420T>C (p.Gly140=) c.564T>C (p.Gly188=) n.477T>C n.578T>C n.878T>C c.507T>C (p.Gly169=) n.827T>C n.868T>C n.880T>C | dbSNP |
15 | g.40411271T>G | CA489739876 | IVD | c.378T>G (p.Gly126=) c.468T>G (p.Gly156=) c.555T>G (p.Gly185=) c.387T>G (p.Gly129=) c.477T>G (p.Gly159=) c.227T>G c.74T>G n.91T>G c.420T>G (p.Gly140=) c.564T>G (p.Gly188=) n.477T>G n.578T>G n.878T>G c.507T>G (p.Gly169=) n.827T>G n.868T>G n.880T>G | |
15 | g.40411271T= | CA2171765795 | IVD | c.378T= (p.Gly126=) c.468T= (p.Gly156=) c.555T= (p.Gly185=) c.387T= (p.Gly129=) c.477T= (p.Gly159=) c.227T= c.74T= n.91T= c.420T= (p.Gly140=) c.564T= (p.Gly188=) n.477T= n.578T= n.878T= c.507T= (p.Gly169=) n.827T= n.868T= n.880T= | |
15 | g.40411272G>A | CA391716979 | IVD | c.379G>A (p.Glu127Lys) c.469G>A (p.Glu157Lys) c.556G>A (p.Glu186Lys) c.388G>A (p.Glu130Lys) c.478G>A (p.Glu160Lys) c.228G>A c.75G>A n.92G>A c.421G>A (p.Glu141Lys) c.565G>A (p.Glu189Lys) n.478G>A n.579G>A n.879G>A c.508G>A (p.Glu170Lys) n.828G>A n.869G>A n.881G>A | |
15 | g.40411272G>C | CA391716981 | IVD | c.379G>C (p.Glu127Gln) c.469G>C (p.Glu157Gln) c.556G>C (p.Glu186Gln) c.388G>C (p.Glu130Gln) c.478G>C (p.Glu160Gln) c.228G>C c.75G>C n.92G>C c.421G>C (p.Glu141Gln) c.565G>C (p.Glu189Gln) n.478G>C n.579G>C n.879G>C c.508G>C (p.Glu170Gln) n.828G>C n.869G>C n.881G>C | |
15 | g.40411272G>T | CA391716983 | IVD | c.379G>T (p.Glu127Ter) c.469G>T (p.Glu157Ter) c.556G>T (p.Glu186Ter) c.388G>T (p.Glu130Ter) c.478G>T (p.Glu160Ter) c.228G>T c.75G>T n.92G>T c.421G>T (p.Glu141Ter) c.565G>T (p.Glu189Ter) n.478G>T n.579G>T n.879G>T c.508G>T (p.Glu170Ter) n.828G>T n.869G>T n.881G>T | |
15 | g.40411272_40411273insGT | CA489739882 | IVD | c.379_380insGT (p.Glu127GlyfsTer9) c.469_470insGT (p.Glu157GlyfsTer9) c.556_557insGT (p.Glu186GlyfsTer9) c.388_389insGT (p.Glu130GlyfsTer9) c.478_479insGT (p.Glu160GlyfsTer9) c.228_229insGT c.75_76insGT n.92_93insGT c.421_422insGT (p.Glu141GlyfsTer9) c.565_566insGT (p.Glu189GlyfsTer9) n.478_479insGT n.579_580insGT n.879_880insGT c.508_509insGT (p.Glu170GlyfsTer9) n.828_829insGT n.869_870insGT n.881_882insGT | |
15 | g.40411273A>C | CA391716986 | IVD | c.380A>C (p.Glu127Ala) c.470A>C (p.Glu157Ala) c.557A>C (p.Glu186Ala) c.389A>C (p.Glu130Ala) c.479A>C (p.Glu160Ala) c.229A>C c.76A>C n.93A>C c.422A>C (p.Glu141Ala) c.566A>C (p.Glu189Ala) n.479A>C n.580A>C n.880A>C c.509A>C (p.Glu170Ala) n.829A>C n.870A>C n.882A>C | |
15 | g.40411273A>G | CA391716987 | IVD | c.380A>G (p.Glu127Gly) c.470A>G (p.Glu157Gly) c.557A>G (p.Glu186Gly) c.389A>G (p.Glu130Gly) c.479A>G (p.Glu160Gly) c.229A>G c.76A>G n.93A>G c.422A>G (p.Glu141Gly) c.566A>G (p.Glu189Gly) n.479A>G n.580A>G n.880A>G c.509A>G (p.Glu170Gly) n.829A>G n.870A>G n.882A>G | |
15 | g.40411273A>T | CA391716989 | IVD | c.380A>T (p.Glu127Val) c.470A>T (p.Glu157Val) c.557A>T (p.Glu186Val) c.389A>T (p.Glu130Val) c.479A>T (p.Glu160Val) c.229A>T c.76A>T n.93A>T c.422A>T (p.Glu141Val) c.566A>T (p.Glu189Val) n.479A>T n.580A>T n.880A>T c.509A>T (p.Glu170Val) n.829A>T n.870A>T n.882A>T | |
15 | g.40411274G>A | CA489739889 | IVD | c.381G>A (p.Glu127=) c.471G>A (p.Glu157=) c.558G>A (p.Glu186=) c.390G>A (p.Glu130=) c.480G>A (p.Glu160=) c.230G>A c.77G>A n.94G>A c.423G>A (p.Glu141=) c.567G>A (p.Glu189=) n.480G>A n.581G>A n.881G>A c.510G>A (p.Glu170=) n.830G>A n.871G>A n.883G>A | |
15 | g.40411274G>C | CA391716992 | IVD | c.381G>C (p.Glu127Asp) c.471G>C (p.Glu157Asp) c.558G>C (p.Glu186Asp) c.390G>C (p.Glu130Asp) c.480G>C (p.Glu160Asp) c.230G>C c.77G>C n.94G>C c.423G>C (p.Glu141Asp) c.567G>C (p.Glu189Asp) n.480G>C n.581G>C n.881G>C c.510G>C (p.Glu170Asp) n.830G>C n.871G>C n.883G>C | |
15 | g.40411274G>T | CA391716993 | IVD | c.381G>T (p.Glu127Asp) c.471G>T (p.Glu157Asp) c.558G>T (p.Glu186Asp) c.390G>T (p.Glu130Asp) c.480G>T (p.Glu160Asp) c.230G>T c.77G>T n.94G>T c.423G>T (p.Glu141Asp) c.567G>T (p.Glu189Asp) n.480G>T n.581G>T n.881G>T c.510G>T (p.Glu170Asp) n.830G>T n.871G>T n.883G>T | |
15 | g.40411275T>A | CA391716997 | IVD | c.382T>A (p.Tyr128Asn) c.472T>A (p.Tyr158Asn) c.559T>A (p.Tyr187Asn) c.391T>A (p.Tyr131Asn) c.481T>A (p.Tyr161Asn) c.231T>A c.78T>A n.95T>A c.424T>A (p.Tyr142Asn) c.568T>A (p.Tyr190Asn) n.481T>A n.582T>A n.882T>A c.511T>A (p.Tyr171Asn) n.831T>A n.872T>A n.884T>A | |
15 | g.40411275T>C | CA7480646 | IVD | c.382T>C (p.Tyr128His) c.472T>C (p.Tyr158His) c.559T>C (p.Tyr187His) c.391T>C (p.Tyr131His) c.481T>C (p.Tyr161His) c.231T>C c.78T>C n.95T>C c.424T>C (p.Tyr142His) c.568T>C (p.Tyr190His) n.481T>C n.582T>C n.882T>C c.511T>C (p.Tyr171His) n.831T>C n.872T>C n.884T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411275T>G | CA391716999 | IVD | c.382T>G (p.Tyr128Asp) c.472T>G (p.Tyr158Asp) c.559T>G (p.Tyr187Asp) c.391T>G (p.Tyr131Asp) c.481T>G (p.Tyr161Asp) c.231T>G c.78T>G n.95T>G c.424T>G (p.Tyr142Asp) c.568T>G (p.Tyr190Asp) n.481T>G n.582T>G n.882T>G c.511T>G (p.Tyr171Asp) n.831T>G n.872T>G n.884T>G | |
15 | g.40411275T= | CA2171765796 | IVD | c.382T= (p.Tyr128=) c.472T= (p.Tyr158=) c.559T= (p.Tyr187=) c.391T= (p.Tyr131=) c.481T= (p.Tyr161=) c.231T= c.78T= n.95T= c.424T= (p.Tyr142=) c.568T= (p.Tyr190=) n.481T= n.582T= n.882T= c.511T= (p.Tyr171=) n.831T= n.872T= n.884T= | |
15 | g.40411276A>C | CA391717002 | IVD | c.383A>C (p.Tyr128Ser) c.473A>C (p.Tyr158Ser) c.560A>C (p.Tyr187Ser) c.392A>C (p.Tyr131Ser) c.482A>C (p.Tyr161Ser) c.232A>C c.79A>C n.96A>C c.425A>C (p.Tyr142Ser) c.569A>C (p.Tyr190Ser) n.482A>C n.583A>C n.883A>C c.512A>C (p.Tyr171Ser) n.832A>C n.873A>C n.885A>C | |
15 | g.40411276A>G | CA391717006 | IVD | c.383A>G (p.Tyr128Cys) c.473A>G (p.Tyr158Cys) c.560A>G (p.Tyr187Cys) c.392A>G (p.Tyr131Cys) c.482A>G (p.Tyr161Cys) c.232A>G c.79A>G n.96A>G c.425A>G (p.Tyr142Cys) c.569A>G (p.Tyr190Cys) n.482A>G n.583A>G n.883A>G c.512A>G (p.Tyr171Cys) n.832A>G n.873A>G n.885A>G | |
15 | g.40411276A>T | CA391717003 | IVD | c.383A>T (p.Tyr128Phe) c.473A>T (p.Tyr158Phe) c.560A>T (p.Tyr187Phe) c.392A>T (p.Tyr131Phe) c.482A>T (p.Tyr161Phe) c.232A>T c.79A>T n.96A>T c.425A>T (p.Tyr142Phe) c.569A>T (p.Tyr190Phe) n.482A>T n.583A>T n.883A>T c.512A>T (p.Tyr171Phe) n.832A>T n.873A>T n.885A>T | |
15 | g.40411277C>A | CA391717008 | IVD | c.384C>A (p.Tyr128Ter) c.474C>A (p.Tyr158Ter) c.561C>A (p.Tyr187Ter) c.393C>A (p.Tyr131Ter) c.483C>A (p.Tyr161Ter) c.233C>A c.80C>A n.97C>A c.426C>A (p.Tyr142Ter) c.570C>A (p.Tyr190Ter) n.483C>A n.584C>A n.884C>A c.513C>A (p.Tyr171Ter) n.833C>A n.874C>A n.886C>A | |
15 | g.40411277C= | CA2171765797 | IVD | c.384C= (p.Tyr128=) c.474C= (p.Tyr158=) c.561C= (p.Tyr187=) c.393C= (p.Tyr131=) c.483C= (p.Tyr161=) c.233C= c.80C= n.97C= c.426C= (p.Tyr142=) c.570C= (p.Tyr190=) n.483C= n.584C= n.884C= c.513C= (p.Tyr171=) n.833C= n.874C= n.886C= | |
15 | g.40411277C>G | CA391717010 | IVD | c.384C>G (p.Tyr128Ter) c.474C>G (p.Tyr158Ter) c.561C>G (p.Tyr187Ter) c.393C>G (p.Tyr131Ter) c.483C>G (p.Tyr161Ter) c.233C>G c.80C>G n.97C>G c.426C>G (p.Tyr142Ter) c.570C>G (p.Tyr190Ter) n.483C>G n.584C>G n.884C>G c.513C>G (p.Tyr171Ter) n.833C>G n.874C>G n.886C>G | dbSNP |
15 | g.40411277C>T | CA268780149 | IVD | c.384C>T (p.Tyr128=) c.474C>T (p.Tyr158=) c.561C>T (p.Tyr187=) c.393C>T (p.Tyr131=) c.483C>T (p.Tyr161=) c.233C>T c.80C>T n.97C>T c.426C>T (p.Tyr142=) c.570C>T (p.Tyr190=) n.483C>T n.584C>T n.884C>T c.513C>T (p.Tyr171=) n.833C>T n.874C>T n.886C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.40411278A= | CA2171765798 | IVD | c.385A= (p.Ile129=) c.475A= (p.Ile159=) c.562A= (p.Ile188=) c.394A= (p.Ile132=) c.484A= (p.Ile162=) c.234A= c.81A= n.98A= c.427A= (p.Ile143=) c.571A= (p.Ile191=) n.484A= n.585A= n.885A= c.514A= (p.Ile172=) n.834A= n.875A= n.887A= | |
15 | g.40411278A>C | CA7480648 | IVD | c.385A>C (p.Ile129Leu) c.475A>C (p.Ile159Leu) c.562A>C (p.Ile188Leu) c.394A>C (p.Ile132Leu) c.484A>C (p.Ile162Leu) c.234A>C c.81A>C n.98A>C c.427A>C (p.Ile143Leu) c.571A>C (p.Ile191Leu) n.484A>C n.585A>C n.885A>C c.514A>C (p.Ile172Leu) n.834A>C n.875A>C n.887A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411278A>G | CA7480647 | IVD | c.385A>G (p.Ile129Val) c.475A>G (p.Ile159Val) c.562A>G (p.Ile188Val) c.394A>G (p.Ile132Val) c.484A>G (p.Ile162Val) c.234A>G c.81A>G n.98A>G c.427A>G (p.Ile143Val) c.571A>G (p.Ile191Val) n.484A>G n.585A>G n.885A>G c.514A>G (p.Ile172Val) n.834A>G n.875A>G n.887A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411278A>T | CA391717014 | IVD | c.385A>T (p.Ile129Phe) c.475A>T (p.Ile159Phe) c.562A>T (p.Ile188Phe) c.394A>T (p.Ile132Phe) c.484A>T (p.Ile162Phe) c.234A>T c.81A>T n.98A>T c.427A>T (p.Ile143Phe) c.571A>T (p.Ile191Phe) n.484A>T n.585A>T n.885A>T c.514A>T (p.Ile172Phe) n.834A>T n.875A>T n.887A>T | |
15 | g.40411279T>A | CA391717017 | IVD | c.386T>A (p.Ile129Asn) c.476T>A (p.Ile159Asn) c.563T>A (p.Ile188Asn) c.395T>A (p.Ile132Asn) c.485T>A (p.Ile162Asn) c.235T>A c.82T>A n.99T>A c.428T>A (p.Ile143Asn) c.572T>A (p.Ile191Asn) n.485T>A n.586T>A n.886T>A c.515T>A (p.Ile172Asn) n.835T>A n.876T>A n.888T>A | |
15 | g.40411279T>C | CA391717019 | IVD | c.386T>C (p.Ile129Thr) c.476T>C (p.Ile159Thr) c.563T>C (p.Ile188Thr) c.395T>C (p.Ile132Thr) c.485T>C (p.Ile162Thr) c.235T>C c.82T>C n.99T>C c.428T>C (p.Ile143Thr) c.572T>C (p.Ile191Thr) n.485T>C n.586T>C n.886T>C c.515T>C (p.Ile172Thr) n.835T>C n.876T>C n.888T>C | |
15 | g.40411279T>G | CA391717020 | IVD | c.386T>G (p.Ile129Ser) c.476T>G (p.Ile159Ser) c.563T>G (p.Ile188Ser) c.395T>G (p.Ile132Ser) c.485T>G (p.Ile162Ser) c.235T>G c.82T>G n.99T>G c.428T>G (p.Ile143Ser) c.572T>G (p.Ile191Ser) n.485T>G n.586T>G n.886T>G c.515T>G (p.Ile172Ser) n.835T>G n.876T>G n.888T>G | |
15 | g.40411280C>A | CA489739940 | IVD | c.387C>A (p.Ile129=) c.477C>A (p.Ile159=) c.564C>A (p.Ile188=) c.396C>A (p.Ile132=) c.486C>A (p.Ile162=) c.236C>A c.83C>A n.100C>A c.429C>A (p.Ile143=) c.573C>A (p.Ile191=) n.486C>A n.587C>A n.887C>A c.516C>A (p.Ile172=) n.836C>A n.877C>A n.889C>A | |
15 | g.40411280C= | CA2171765799 | IVD | c.387C= (p.Ile129=) c.477C= (p.Ile159=) c.564C= (p.Ile188=) c.396C= (p.Ile132=) c.486C= (p.Ile162=) c.236C= c.83C= n.100C= c.429C= (p.Ile143=) c.573C= (p.Ile191=) n.486C= n.587C= n.887C= c.516C= (p.Ile172=) n.836C= n.877C= n.889C= | |
15 | g.40411280C>G | CA391717023 | IVD | c.387C>G (p.Ile129Met) c.477C>G (p.Ile159Met) c.564C>G (p.Ile188Met) c.396C>G (p.Ile132Met) c.486C>G (p.Ile162Met) c.236C>G c.83C>G n.100C>G c.429C>G (p.Ile143Met) c.573C>G (p.Ile191Met) n.486C>G n.587C>G n.887C>G c.516C>G (p.Ile172Met) n.836C>G n.877C>G n.889C>G | |
15 | g.40411280C>T | CA7480649 | IVD | c.387C>T (p.Ile129=) c.477C>T (p.Ile159=) c.564C>T (p.Ile188=) c.396C>T (p.Ile132=) c.486C>T (p.Ile162=) c.236C>T c.83C>T n.100C>T c.429C>T (p.Ile143=) c.573C>T (p.Ile191=) n.486C>T n.587C>T n.887C>T c.516C>T (p.Ile172=) n.836C>T n.877C>T n.889C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.40411281G>A | CA391717026 | IVD | c.388G>A (p.Gly130Arg) c.478G>A (p.Gly160Arg) c.565G>A (p.Gly189Arg) c.397G>A (p.Gly133Arg) c.487G>A (p.Gly163Arg) c.237G>A c.84G>A n.101G>A c.430G>A (p.Gly144Arg) c.574G>A (p.Gly192Arg) n.487G>A n.588G>A n.888G>A c.517G>A (p.Gly173Arg) n.837G>A n.878G>A n.890G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.40411281G>C | CA391717029 | IVD | c.388G>C (p.Gly130Arg) c.478G>C (p.Gly160Arg) c.565G>C (p.Gly189Arg) c.397G>C (p.Gly133Arg) c.487G>C (p.Gly163Arg) c.237G>C c.84G>C n.101G>C c.430G>C (p.Gly144Arg) c.574G>C (p.Gly192Arg) n.487G>C n.588G>C n.888G>C c.517G>C (p.Gly173Arg) n.837G>C n.878G>C n.890G>C | |
15 | g.40411281G= | CA2171765800 | IVD | c.388G= (p.Gly130=) c.478G= (p.Gly160=) c.565G= (p.Gly189=) c.397G= (p.Gly133=) c.487G= (p.Gly163=) c.237G= c.84G= n.101G= c.430G= (p.Gly144=) c.574G= (p.Gly192=) n.487G= n.588G= n.888G= c.517G= (p.Gly173=) n.837G= n.878G= n.890G= | |
15 | g.40411281G>T | CA391717031 | IVD | c.388G>T (p.Gly130Ter) c.478G>T (p.Gly160Ter) c.565G>T (p.Gly189Ter) c.397G>T (p.Gly133Ter) c.487G>T (p.Gly163Ter) c.237G>T c.84G>T n.101G>T c.430G>T (p.Gly144Ter) c.574G>T (p.Gly192Ter) n.487G>T n.588G>T n.888G>T c.517G>T (p.Gly173Ter) n.837G>T n.878G>T n.890G>T | |
15 | g.40411282G>A | CA391717036 | IVD | c.389G>A (p.Gly130Glu) c.479G>A (p.Gly160Glu) c.566G>A (p.Gly189Glu) c.398G>A (p.Gly133Glu) c.488G>A (p.Gly163Glu) c.238G>A c.85G>A n.102G>A c.431G>A (p.Gly144Glu) c.575G>A (p.Gly192Glu) n.488G>A n.589G>A n.889G>A c.518G>A (p.Gly173Glu) n.838G>A n.879G>A n.891G>A | |
15 | g.40411282G>C | CA7480650 | IVD | c.389G>C (p.Gly130Ala) c.479G>C (p.Gly160Ala) c.566G>C (p.Gly189Ala) c.398G>C (p.Gly133Ala) c.488G>C (p.Gly163Ala) c.238G>C c.85G>C n.102G>C c.431G>C (p.Gly144Ala) c.575G>C (p.Gly192Ala) n.488G>C n.589G>C n.889G>C c.518G>C (p.Gly173Ala) n.838G>C n.879G>C n.891G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411282G= | CA2171765801 | IVD | c.389G= (p.Gly130=) c.479G= (p.Gly160=) c.566G= (p.Gly189=) c.398G= (p.Gly133=) c.488G= (p.Gly163=) c.238G= c.85G= n.102G= c.431G= (p.Gly144=) c.575G= (p.Gly192=) n.488G= n.589G= n.889G= c.518G= (p.Gly173=) n.838G= n.879G= n.891G= | |
15 | g.40411282G>T | CA391717033 | IVD | c.389G>T (p.Gly130Val) c.479G>T (p.Gly160Val) c.566G>T (p.Gly189Val) c.398G>T (p.Gly133Val) c.488G>T (p.Gly163Val) c.238G>T c.85G>T n.102G>T c.431G>T (p.Gly144Val) c.575G>T (p.Gly192Val) n.488G>T n.589G>T n.889G>T c.518G>T (p.Gly173Val) n.838G>T n.879G>T n.891G>T | |
15 | g.40411283A= | CA2171765802 | IVD | c.390A= (p.Gly130=) c.480A= (p.Gly160=) c.567A= (p.Gly189=) c.399A= (p.Gly133=) c.489A= (p.Gly163=) c.239A= c.86A= n.103A= c.432A= (p.Gly144=) c.576A= (p.Gly192=) n.489A= n.590A= n.890A= c.519A= (p.Gly173=) n.839A= n.880A= n.892A= | |
15 | g.40411283A>C | CA268780152 | IVD | c.390A>C (p.Gly130=) c.480A>C (p.Gly160=) c.567A>C (p.Gly189=) c.399A>C (p.Gly133=) c.489A>C (p.Gly163=) c.239A>C c.86A>C n.103A>C c.432A>C (p.Gly144=) c.576A>C (p.Gly192=) n.489A>C n.590A>C n.890A>C c.519A>C (p.Gly173=) n.839A>C n.880A>C n.892A>C | dbSNP |
15 | g.40411283A>G | CA489739984 | IVD | c.390A>G (p.Gly130=) c.480A>G (p.Gly160=) c.567A>G (p.Gly189=) c.399A>G (p.Gly133=) c.489A>G (p.Gly163=) c.239A>G c.86A>G n.103A>G c.432A>G (p.Gly144=) c.576A>G (p.Gly192=) n.489A>G n.590A>G n.890A>G c.519A>G (p.Gly173=) n.839A>G n.880A>G n.892A>G | |
15 | g.40411283A>T | CA489739987 | IVD | c.390A>T (p.Gly130=) c.480A>T (p.Gly160=) c.567A>T (p.Gly189=) c.399A>T (p.Gly133=) c.489A>T (p.Gly163=) c.239A>T c.86A>T n.103A>T c.432A>T (p.Gly144=) c.576A>T (p.Gly192=) n.489A>T n.590A>T n.890A>T c.519A>T (p.Gly173=) n.839A>T n.880A>T n.892A>T | |
15 | g.40411284G>A | CA391717039 | IVD | c.391G>A (p.Ala131Thr) c.481G>A (p.Ala161Thr) c.568G>A (p.Ala190Thr) c.400G>A (p.Ala134Thr) c.490G>A (p.Ala164Thr) c.240G>A c.87G>A n.104G>A c.433G>A (p.Ala145Thr) c.577G>A (p.Ala193Thr) n.490G>A n.591G>A n.891G>A c.520G>A (p.Ala174Thr) n.840G>A n.881G>A n.893G>A | |
15 | g.40411284G>C | CA391717041 | IVD | c.391G>C (p.Ala131Pro) c.481G>C (p.Ala161Pro) c.568G>C (p.Ala190Pro) c.400G>C (p.Ala134Pro) c.490G>C (p.Ala164Pro) c.240G>C c.87G>C n.104G>C c.433G>C (p.Ala145Pro) c.577G>C (p.Ala193Pro) n.490G>C n.591G>C n.891G>C c.520G>C (p.Ala174Pro) n.840G>C n.881G>C n.893G>C | |
15 | g.40411284G>T | CA391717043 | IVD | c.391G>T (p.Ala131Ser) c.481G>T (p.Ala161Ser) c.568G>T (p.Ala190Ser) c.400G>T (p.Ala134Ser) c.490G>T (p.Ala164Ser) c.240G>T c.87G>T n.104G>T c.433G>T (p.Ala145Ser) c.577G>T (p.Ala193Ser) n.490G>T n.591G>T n.891G>T c.520G>T (p.Ala174Ser) n.840G>T n.881G>T n.893G>T | |
15 | g.40411285C>A | CA391717045 | IVD | c.392C>A (p.Ala131Asp) c.482C>A (p.Ala161Asp) c.569C>A (p.Ala190Asp) c.401C>A (p.Ala134Asp) c.491C>A (p.Ala164Asp) c.241C>A c.88C>A n.105C>A c.434C>A (p.Ala145Asp) c.578C>A (p.Ala193Asp) n.491C>A n.592C>A n.892C>A c.521C>A (p.Ala174Asp) n.841C>A n.882C>A n.894C>A | |
15 | g.40411285C>G | CA391717047 | IVD | c.392C>G (p.Ala131Gly) c.482C>G (p.Ala161Gly) c.569C>G (p.Ala190Gly) c.401C>G (p.Ala134Gly) c.491C>G (p.Ala164Gly) c.241C>G c.88C>G n.105C>G c.434C>G (p.Ala145Gly) c.578C>G (p.Ala193Gly) n.491C>G n.592C>G n.892C>G c.521C>G (p.Ala174Gly) n.841C>G n.882C>G n.894C>G | |
15 | g.40411285C>T | CA391717049 | IVD | c.392C>T (p.Ala131Val) c.482C>T (p.Ala161Val) c.569C>T (p.Ala190Val) c.401C>T (p.Ala134Val) c.491C>T (p.Ala164Val) c.241C>T c.88C>T n.105C>T c.434C>T (p.Ala145Val) c.578C>T (p.Ala193Val) n.491C>T n.592C>T n.892C>T c.521C>T (p.Ala174Val) n.841C>T n.882C>T n.894C>T | |
15 | g.40411287del | CA2627814749 | IVD | c.394del (p.Leu132TrpfsTer3) c.484del (p.Leu162TrpfsTer3) c.571del (p.Leu191TrpfsTer3) c.403del (p.Leu135TrpfsTer3) c.493del (p.Leu165TrpfsTer3) c.243del c.90del n.107del c.436del (p.Leu146TrpfsTer3) c.580del (p.Leu194TrpfsTer3) n.493del n.594del n.894del c.523del (p.Leu175TrpfsTer3) n.843del n.884del n.896del | gnomAD v4 |
15 | g.40411286C>A | CA489739999 | IVD | c.393C>A (p.Ala131=) c.483C>A (p.Ala161=) c.570C>A (p.Ala190=) c.402C>A (p.Ala134=) c.492C>A (p.Ala164=) c.242C>A c.89C>A n.106C>A c.435C>A (p.Ala145=) c.579C>A (p.Ala193=) n.492C>A n.593C>A n.893C>A c.522C>A (p.Ala174=) n.842C>A n.883C>A n.895C>A | |
15 | g.40411286C= | CA2171765803 | IVD | c.393C= (p.Ala131=) c.483C= (p.Ala161=) c.570C= (p.Ala190=) c.402C= (p.Ala134=) c.492C= (p.Ala164=) c.242C= c.89C= n.106C= c.435C= (p.Ala145=) c.579C= (p.Ala193=) n.492C= n.593C= n.893C= c.522C= (p.Ala174=) n.842C= n.883C= n.895C= | |
15 | g.40411286C>G | CA489739997 | IVD | c.393C>G (p.Ala131=) c.483C>G (p.Ala161=) c.570C>G (p.Ala190=) c.402C>G (p.Ala134=) c.492C>G (p.Ala164=) c.242C>G c.89C>G n.106C>G c.435C>G (p.Ala145=) c.579C>G (p.Ala193=) n.492C>G n.593C>G n.893C>G c.522C>G (p.Ala174=) n.842C>G n.883C>G n.895C>G | dbSNP |
15 | g.40411286C>T | CA7480651 | IVD | c.393C>T (p.Ala131=) c.483C>T (p.Ala161=) c.570C>T (p.Ala190=) c.402C>T (p.Ala134=) c.492C>T (p.Ala164=) c.242C>T c.89C>T n.106C>T c.435C>T (p.Ala145=) c.579C>T (p.Ala193=) n.492C>T n.593C>T n.893C>T c.522C>T (p.Ala174=) n.842C>T n.883C>T n.895C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411287C>A | CA391717053 | IVD | c.394C>A (p.Leu132Met) c.484C>A (p.Leu162Met) c.571C>A (p.Leu191Met) c.403C>A (p.Leu135Met) c.493C>A (p.Leu165Met) c.243C>A c.90C>A n.107C>A c.436C>A (p.Leu146Met) c.580C>A (p.Leu194Met) n.493C>A n.594C>A n.894C>A c.523C>A (p.Leu175Met) n.843C>A n.884C>A n.896C>A | |
15 | g.40411287C>G | CA391717054 | IVD | c.394C>G (p.Leu132Val) c.484C>G (p.Leu162Val) c.571C>G (p.Leu191Val) c.403C>G (p.Leu135Val) c.493C>G (p.Leu165Val) c.243C>G c.90C>G n.107C>G c.436C>G (p.Leu146Val) c.580C>G (p.Leu194Val) n.493C>G n.594C>G n.894C>G c.523C>G (p.Leu175Val) n.843C>G n.884C>G n.896C>G | |
15 | g.40411287C>T | CA489740003 | IVD | c.394C>T (p.Leu132=) c.484C>T (p.Leu162=) c.571C>T (p.Leu191=) c.403C>T (p.Leu135=) c.493C>T (p.Leu165=) c.243C>T c.90C>T n.107C>T c.436C>T (p.Leu146=) c.580C>T (p.Leu194=) n.493C>T n.594C>T n.894C>T c.523C>T (p.Leu175=) n.843C>T n.884C>T n.896C>T | |
15 | g.40411288T>A | CA391717057 | IVD | c.395T>A (p.Leu132Gln) c.485T>A (p.Leu162Gln) c.572T>A (p.Leu191Gln) c.404T>A (p.Leu135Gln) c.494T>A (p.Leu165Gln) c.244T>A c.91T>A n.108T>A c.437T>A (p.Leu146Gln) c.581T>A (p.Leu194Gln) n.494T>A n.595T>A n.895T>A c.524T>A (p.Leu175Gln) n.844T>A n.885T>A n.897T>A | |
15 | g.40411288T>C | CA391717058 | IVD | c.395T>C (p.Leu132Pro) c.485T>C (p.Leu162Pro) c.572T>C (p.Leu191Pro) c.404T>C (p.Leu135Pro) c.494T>C (p.Leu165Pro) c.244T>C c.91T>C n.108T>C c.437T>C (p.Leu146Pro) c.581T>C (p.Leu194Pro) n.494T>C n.595T>C n.895T>C c.524T>C (p.Leu175Pro) n.844T>C n.885T>C n.897T>C | |
15 | g.40411288T>G | CA391717061 | IVD | c.395T>G (p.Leu132Arg) c.485T>G (p.Leu162Arg) c.572T>G (p.Leu191Arg) c.404T>G (p.Leu135Arg) c.494T>G (p.Leu165Arg) c.244T>G c.91T>G n.108T>G c.437T>G (p.Leu146Arg) c.581T>G (p.Leu194Arg) n.494T>G n.595T>G n.895T>G c.524T>G (p.Leu175Arg) n.844T>G n.885T>G n.897T>G | |
15 | g.40411289G>A | CA7480652 | IVD | c.396G>A (p.Leu132=) c.486G>A (p.Leu162=) c.573G>A (p.Leu191=) c.405G>A (p.Leu135=) c.495G>A (p.Leu165=) c.245G>A c.92G>A n.109G>A c.438G>A (p.Leu146=) c.582G>A (p.Leu194=) n.495G>A n.596G>A n.896G>A c.525G>A (p.Leu175=) n.845G>A n.886G>A n.898G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411289G>C | CA489740011 | IVD | c.396G>C (p.Leu132=) c.486G>C (p.Leu162=) c.573G>C (p.Leu191=) c.405G>C (p.Leu135=) c.495G>C (p.Leu165=) c.245G>C c.92G>C n.109G>C c.438G>C (p.Leu146=) c.582G>C (p.Leu194=) n.495G>C n.596G>C n.896G>C c.525G>C (p.Leu175=) n.845G>C n.886G>C n.898G>C | |
15 | g.40411289G= | CA2171765804 | IVD | c.396G= (p.Leu132=) c.486G= (p.Leu162=) c.573G= (p.Leu191=) c.405G= (p.Leu135=) c.495G= (p.Leu165=) c.245G= c.92G= n.109G= c.438G= (p.Leu146=) c.582G= (p.Leu194=) n.495G= n.596G= n.896G= c.525G= (p.Leu175=) n.845G= n.886G= n.898G= | |
15 | g.40411289G>T | CA489740009 | IVD | c.396G>T (p.Leu132=) c.486G>T (p.Leu162=) c.573G>T (p.Leu191=) c.405G>T (p.Leu135=) c.495G>T (p.Leu165=) c.245G>T c.92G>T n.109G>T c.438G>T (p.Leu146=) c.582G>T (p.Leu194=) n.495G>T n.596G>T n.896G>T c.525G>T (p.Leu175=) n.845G>T n.886G>T n.898G>T | |
15 | g.40411290G>A | CA391717068 | IVD | c.397G>A (p.Ala133Thr) c.487G>A (p.Ala163Thr) c.574G>A (p.Ala192Thr) c.406G>A (p.Ala136Thr) c.496G>A (p.Ala166Thr) c.246G>A c.93G>A n.110G>A c.439G>A (p.Ala147Thr) c.583G>A (p.Ala195Thr) n.496G>A n.597G>A n.897G>A c.526G>A (p.Ala176Thr) n.846G>A n.887G>A n.899G>A | |
15 | g.40411290G>C | CA391717067 | IVD | c.397G>C (p.Ala133Pro) c.487G>C (p.Ala163Pro) c.574G>C (p.Ala192Pro) c.406G>C (p.Ala136Pro) c.496G>C (p.Ala166Pro) c.246G>C c.93G>C n.110G>C c.439G>C (p.Ala147Pro) c.583G>C (p.Ala195Pro) n.496G>C n.597G>C n.897G>C c.526G>C (p.Ala176Pro) n.846G>C n.887G>C n.899G>C | |
15 | g.40411290G>T | CA391717064 | IVD | c.397G>T (p.Ala133Ser) c.487G>T (p.Ala163Ser) c.574G>T (p.Ala192Ser) c.406G>T (p.Ala136Ser) c.496G>T (p.Ala166Ser) c.246G>T c.93G>T n.110G>T c.439G>T (p.Ala147Ser) c.583G>T (p.Ala195Ser) n.496G>T n.597G>T n.897G>T c.526G>T (p.Ala176Ser) n.846G>T n.887G>T n.899G>T | |
15 | g.40411291C>A | CA391717075 | IVD | c.398C>A (p.Ala133Asp) c.488C>A (p.Ala163Asp) c.575C>A (p.Ala192Asp) c.407C>A (p.Ala136Asp) c.497C>A (p.Ala166Asp) c.247C>A c.94C>A n.111C>A c.440C>A (p.Ala147Asp) c.584C>A (p.Ala195Asp) n.497C>A n.598C>A n.898C>A c.527C>A (p.Ala176Asp) n.847C>A n.888C>A n.900C>A | gnomAD v4 |
15 | g.40411291C>G | CA391717071 | IVD | c.398C>G (p.Ala133Gly) c.488C>G (p.Ala163Gly) c.575C>G (p.Ala192Gly) c.407C>G (p.Ala136Gly) c.497C>G (p.Ala166Gly) c.247C>G c.94C>G n.111C>G c.440C>G (p.Ala147Gly) c.584C>G (p.Ala195Gly) n.497C>G n.598C>G n.898C>G c.527C>G (p.Ala176Gly) n.847C>G n.888C>G n.900C>G | |
15 | g.40411291C>T | CA391717073 | IVD | c.398C>T (p.Ala133Val) c.488C>T (p.Ala163Val) c.575C>T (p.Ala192Val) c.407C>T (p.Ala136Val) c.497C>T (p.Ala166Val) c.247C>T c.94C>T n.111C>T c.440C>T (p.Ala147Val) c.584C>T (p.Ala195Val) n.497C>T n.598C>T n.898C>T c.527C>T (p.Ala176Val) n.847C>T n.888C>T n.900C>T | |
15 | g.40411292C>A | CA489740022 | IVD | c.399C>A (p.Ala133=) c.489C>A (p.Ala163=) c.576C>A (p.Ala192=) c.408C>A (p.Ala136=) c.498C>A (p.Ala166=) c.248C>A c.95C>A n.112C>A c.441C>A (p.Ala147=) c.585C>A (p.Ala195=) n.498C>A n.599C>A n.899C>A c.528C>A (p.Ala176=) n.848C>A n.889C>A n.901C>A | |
15 | g.40411292C>G | CA489740023 | IVD | c.399C>G (p.Ala133=) c.489C>G (p.Ala163=) c.576C>G (p.Ala192=) c.408C>G (p.Ala136=) c.498C>G (p.Ala166=) c.248C>G c.95C>G n.112C>G c.441C>G (p.Ala147=) c.585C>G (p.Ala195=) n.498C>G n.599C>G n.899C>G c.528C>G (p.Ala176=) n.848C>G n.889C>G n.901C>G | |
15 | g.40411292C>T | CA489740024 | IVD | c.399C>T (p.Ala133=) c.489C>T (p.Ala163=) c.576C>T (p.Ala192=) c.408C>T (p.Ala136=) c.498C>T (p.Ala166=) c.248C>T c.95C>T n.112C>T c.441C>T (p.Ala147=) c.585C>T (p.Ala195=) n.498C>T n.599C>T n.899C>T c.528C>T (p.Ala176=) n.848C>T n.889C>T n.901C>T | ClinVar gnomAD v4 |
15 | g.40411293A= | CA2171765805 | IVD | c.400A= (p.Met134=) c.490A= (p.Met164=) c.577A= (p.Met193=) c.409A= (p.Met137=) c.499A= (p.Met167=) c.249A= c.96A= n.113A= c.442A= (p.Met148=) c.586A= (p.Met196=) n.499A= n.600A= n.900A= c.529A= (p.Met177=) n.849A= n.890A= n.902A= | |
15 | g.40411293A>C | CA391717077 | IVD | c.400A>C (p.Met134Leu) c.490A>C (p.Met164Leu) c.577A>C (p.Met193Leu) c.409A>C (p.Met137Leu) c.499A>C (p.Met167Leu) c.249A>C c.96A>C n.113A>C c.442A>C (p.Met148Leu) c.586A>C (p.Met196Leu) n.499A>C n.600A>C n.900A>C c.529A>C (p.Met177Leu) n.849A>C n.890A>C n.902A>C | |
15 | g.40411293A>G | CA7480653 | IVD | c.400A>G (p.Met134Val) c.490A>G (p.Met164Val) c.577A>G (p.Met193Val) c.409A>G (p.Met137Val) c.499A>G (p.Met167Val) c.249A>G c.96A>G n.113A>G c.442A>G (p.Met148Val) c.586A>G (p.Met196Val) n.499A>G n.600A>G n.900A>G c.529A>G (p.Met177Val) n.849A>G n.890A>G n.902A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411293A>T | CA391717079 | IVD | c.400A>T (p.Met134Leu) c.490A>T (p.Met164Leu) c.577A>T (p.Met193Leu) c.409A>T (p.Met137Leu) c.499A>T (p.Met167Leu) c.249A>T c.96A>T n.113A>T c.442A>T (p.Met148Leu) c.586A>T (p.Met196Leu) n.499A>T n.600A>T n.900A>T c.529A>T (p.Met177Leu) n.849A>T n.890A>T n.902A>T | |
15 | g.40411294T>A | CA391717084 | IVD | c.401T>A (p.Met134Lys) c.491T>A (p.Met164Lys) c.578T>A (p.Met193Lys) c.410T>A (p.Met137Lys) c.500T>A (p.Met167Lys) c.250T>A c.97T>A n.114T>A c.443T>A (p.Met148Lys) c.587T>A (p.Met196Lys) n.500T>A n.601T>A n.901T>A c.530T>A (p.Met177Lys) n.850T>A n.891T>A n.903T>A | |
15 | g.40411294T>C | CA391717083 | IVD | c.401T>C (p.Met134Thr) c.491T>C (p.Met164Thr) c.578T>C (p.Met193Thr) c.410T>C (p.Met137Thr) c.500T>C (p.Met167Thr) c.250T>C c.97T>C n.114T>C c.443T>C (p.Met148Thr) c.587T>C (p.Met196Thr) n.500T>C n.601T>C n.901T>C c.530T>C (p.Met177Thr) n.850T>C n.891T>C n.903T>C | ClinVar dbSNP |
15 | g.40411294T>G | CA391717081 | IVD | c.401T>G (p.Met134Arg) c.491T>G (p.Met164Arg) c.578T>G (p.Met193Arg) c.410T>G (p.Met137Arg) c.500T>G (p.Met167Arg) c.250T>G c.97T>G n.114T>G c.443T>G (p.Met148Arg) c.587T>G (p.Met196Arg) n.500T>G n.601T>G n.901T>G c.530T>G (p.Met177Arg) n.850T>G n.891T>G n.903T>G | |
15 | g.40411294T= | CA2171765806 | IVD | c.401T= (p.Met134=) c.491T= (p.Met164=) c.578T= (p.Met193=) c.410T= (p.Met137=) c.500T= (p.Met167=) c.250T= c.97T= n.114T= c.443T= (p.Met148=) c.587T= (p.Met196=) n.500T= n.601T= n.901T= c.530T= (p.Met177=) n.850T= n.891T= n.903T= | |
15 | g.40411295G>A | CA7480654 | IVD | c.402G>A (p.Met134Ile) c.492G>A (p.Met164Ile) c.579G>A (p.Met193Ile) c.411G>A (p.Met137Ile) c.501G>A (p.Met167Ile) c.251G>A c.98G>A n.115G>A c.444G>A (p.Met148Ile) c.588G>A (p.Met196Ile) n.501G>A n.602G>A n.902G>A c.531G>A (p.Met177Ile) n.851G>A n.892G>A n.904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411295G>C | CA391717086 | IVD | c.402G>C (p.Met134Ile) c.492G>C (p.Met164Ile) c.579G>C (p.Met193Ile) c.411G>C (p.Met137Ile) c.501G>C (p.Met167Ile) c.251G>C c.98G>C n.115G>C c.444G>C (p.Met148Ile) c.588G>C (p.Met196Ile) n.501G>C n.602G>C n.902G>C c.531G>C (p.Met177Ile) n.851G>C n.892G>C n.904G>C | dbSNP gnomAD v4 |
15 | g.40411295G= | CA2171765807 | IVD | c.402G= (p.Met134=) c.492G= (p.Met164=) c.579G= (p.Met193=) c.411G= (p.Met137=) c.501G= (p.Met167=) c.251G= c.98G= n.115G= c.444G= (p.Met148=) c.588G= (p.Met196=) n.501G= n.602G= n.902G= c.531G= (p.Met177=) n.851G= n.892G= n.904G= | |
15 | g.40411295G>T | CA391717087 | IVD | c.402G>T (p.Met134Ile) c.492G>T (p.Met164Ile) c.579G>T (p.Met193Ile) c.411G>T (p.Met137Ile) c.501G>T (p.Met167Ile) c.251G>T c.98G>T n.115G>T c.444G>T (p.Met148Ile) c.588G>T (p.Met196Ile) n.501G>T n.602G>T n.902G>T c.531G>T (p.Met177Ile) n.851G>T n.892G>T n.904G>T | |
15 | g.40411296A>C | CA391717090 | IVD | c.403A>C (p.Ser135Arg) c.493A>C (p.Ser165Arg) c.580A>C (p.Ser194Arg) c.412A>C (p.Ser138Arg) c.502A>C (p.Ser168Arg) c.252A>C c.99A>C n.116A>C c.445A>C (p.Ser149Arg) c.589A>C (p.Ser197Arg) n.502A>C n.603A>C n.903A>C c.532A>C (p.Ser178Arg) n.852A>C n.893A>C n.905A>C | |
15 | g.40411296A>G | CA391717091 | IVD | c.403A>G (p.Ser135Gly) c.493A>G (p.Ser165Gly) c.580A>G (p.Ser194Gly) c.412A>G (p.Ser138Gly) c.502A>G (p.Ser168Gly) c.252A>G c.99A>G n.116A>G c.445A>G (p.Ser149Gly) c.589A>G (p.Ser197Gly) n.502A>G n.603A>G n.903A>G c.532A>G (p.Ser178Gly) n.852A>G n.893A>G n.905A>G | |
15 | g.40411296A>T | CA391717093 | IVD | c.403A>T (p.Ser135Cys) c.493A>T (p.Ser165Cys) c.580A>T (p.Ser194Cys) c.412A>T (p.Ser138Cys) c.502A>T (p.Ser168Cys) c.252A>T c.99A>T n.116A>T c.445A>T (p.Ser149Cys) c.589A>T (p.Ser197Cys) n.502A>T n.603A>T n.903A>T c.532A>T (p.Ser178Cys) n.852A>T n.893A>T n.905A>T | |
15 | g.40411297G>A | CA391717096 | IVD | c.404G>A (p.Ser135Asn) c.494G>A (p.Ser165Asn) c.581G>A (p.Ser194Asn) c.413G>A (p.Ser138Asn) c.503G>A (p.Ser168Asn) c.253G>A c.100G>A n.117G>A c.446G>A (p.Ser149Asn) c.590G>A (p.Ser197Asn) n.503G>A n.604G>A n.904G>A c.533G>A (p.Ser178Asn) n.853G>A n.894G>A n.906G>A | gnomAD v4 |
15 | g.40411297G>C | CA391717100 | IVD | c.404G>C (p.Ser135Thr) c.494G>C (p.Ser165Thr) c.581G>C (p.Ser194Thr) c.413G>C (p.Ser138Thr) c.503G>C (p.Ser168Thr) c.253G>C c.100G>C n.117G>C c.446G>C (p.Ser149Thr) c.590G>C (p.Ser197Thr) n.503G>C n.604G>C n.904G>C c.533G>C (p.Ser178Thr) n.853G>C n.894G>C n.906G>C | |
15 | g.40411297G>T | CA391717097 | IVD | c.404G>T (p.Ser135Ile) c.494G>T (p.Ser165Ile) c.581G>T (p.Ser194Ile) c.413G>T (p.Ser138Ile) c.503G>T (p.Ser168Ile) c.253G>T c.100G>T n.117G>T c.446G>T (p.Ser149Ile) c.590G>T (p.Ser197Ile) n.503G>T n.604G>T n.904G>T c.533G>T (p.Ser178Ile) n.853G>T n.894G>T n.906G>T | |
15 | g.40411298T>A | CA391717102 | IVD | c.405T>A (p.Ser135Arg) c.495T>A (p.Ser165Arg) c.582T>A (p.Ser194Arg) c.414T>A (p.Ser138Arg) c.504T>A (p.Ser168Arg) c.254T>A c.101T>A n.118T>A c.447T>A (p.Ser149Arg) c.591T>A (p.Ser197Arg) n.504T>A n.605T>A n.905T>A c.534T>A (p.Ser178Arg) n.854T>A n.895T>A n.907T>A | |
15 | g.40411298T>C | CA489740044 | IVD | c.405T>C (p.Ser135=) c.495T>C (p.Ser165=) c.582T>C (p.Ser194=) c.414T>C (p.Ser138=) c.504T>C (p.Ser168=) c.254T>C c.101T>C n.118T>C c.447T>C (p.Ser149=) c.591T>C (p.Ser197=) n.504T>C n.605T>C n.905T>C c.534T>C (p.Ser178=) n.854T>C n.895T>C n.907T>C | ClinVar dbSNP |
15 | g.40411298T>G | CA391717104 | IVD | c.405T>G (p.Ser135Arg) c.495T>G (p.Ser165Arg) c.582T>G (p.Ser194Arg) c.414T>G (p.Ser138Arg) c.504T>G (p.Ser168Arg) c.254T>G c.101T>G n.118T>G c.447T>G (p.Ser149Arg) c.591T>G (p.Ser197Arg) n.504T>G n.605T>G n.905T>G c.534T>G (p.Ser178Arg) n.854T>G n.895T>G n.907T>G | |
15 | g.40411298T= | CA2171765808 | IVD | c.405T= (p.Ser135=) c.495T= (p.Ser165=) c.582T= (p.Ser194=) c.414T= (p.Ser138=) c.504T= (p.Ser168=) c.254T= c.101T= n.118T= c.447T= (p.Ser149=) c.591T= (p.Ser197=) n.504T= n.605T= n.905T= c.534T= (p.Ser178=) n.854T= n.895T= n.907T= | |
15 | g.40411299G>A | CA391717107 | IVD | c.406G>A (p.Glu136Lys) c.496G>A (p.Glu166Lys) c.583G>A (p.Glu195Lys) c.415G>A (p.Glu139Lys) c.505G>A (p.Glu169Lys) c.255G>A c.102G>A n.119G>A c.448G>A (p.Glu150Lys) c.592G>A (p.Glu198Lys) n.505G>A n.606G>A n.906G>A c.535G>A (p.Glu179Lys) n.855G>A n.896G>A n.908G>A | |
15 | g.40411299G>C | CA391717109 | IVD | c.406G>C (p.Glu136Gln) c.496G>C (p.Glu166Gln) c.583G>C (p.Glu195Gln) c.415G>C (p.Glu139Gln) c.505G>C (p.Glu169Gln) c.255G>C c.102G>C n.119G>C c.448G>C (p.Glu150Gln) c.592G>C (p.Glu198Gln) n.505G>C n.606G>C n.906G>C c.535G>C (p.Glu179Gln) n.855G>C n.896G>C n.908G>C | |
15 | g.40411299G>T | CA391717111 | IVD | c.406G>T (p.Glu136Ter) c.496G>T (p.Glu166Ter) c.583G>T (p.Glu195Ter) c.415G>T (p.Glu139Ter) c.505G>T (p.Glu169Ter) c.255G>T c.102G>T n.119G>T c.448G>T (p.Glu150Ter) c.592G>T (p.Glu198Ter) n.505G>T n.606G>T n.906G>T c.535G>T (p.Glu179Ter) n.855G>T n.896G>T n.908G>T | |
15 | g.40411300A= | CA2171765810 | IVD | c.407A= (p.Glu136=) c.497A= (p.Glu166=) c.584A= (p.Glu195=) c.416A= (p.Glu139=) c.506A= (p.Glu169=) c.256A= c.103A= n.120A= c.449A= (p.Glu150=) c.593A= (p.Glu198=) n.506A= n.607A= n.907A= c.536A= (p.Glu179=) n.856A= n.897A= n.909A= | |
15 | g.40411300A>C | CA391717113 | IVD | c.407A>C (p.Glu136Ala) c.497A>C (p.Glu166Ala) c.584A>C (p.Glu195Ala) c.416A>C (p.Glu139Ala) c.506A>C (p.Glu169Ala) c.256A>C c.103A>C n.120A>C c.449A>C (p.Glu150Ala) c.593A>C (p.Glu198Ala) n.506A>C n.607A>C n.907A>C c.536A>C (p.Glu179Ala) n.856A>C n.897A>C n.909A>C | dbSNP |
15 | g.40411300A>G | CA391717115 | IVD | c.407A>G (p.Glu136Gly) c.497A>G (p.Glu166Gly) c.584A>G (p.Glu195Gly) c.416A>G (p.Glu139Gly) c.506A>G (p.Glu169Gly) c.256A>G c.103A>G n.120A>G c.449A>G (p.Glu150Gly) c.593A>G (p.Glu198Gly) n.506A>G n.607A>G n.907A>G c.536A>G (p.Glu179Gly) n.856A>G n.897A>G n.909A>G | |
15 | g.40411300A>T | CA391717117 | IVD | c.407A>T (p.Glu136Val) c.497A>T (p.Glu166Val) c.584A>T (p.Glu195Val) c.416A>T (p.Glu139Val) c.506A>T (p.Glu169Val) c.256A>T c.103A>T n.120A>T c.449A>T (p.Glu150Val) c.593A>T (p.Glu198Val) n.506A>T n.607A>T n.907A>T c.536A>T (p.Glu179Val) n.856A>T n.897A>T n.909A>T | |
15 | g.40411300_40411301delinsAG | CA2171765809 | IVD | c.407_408delinsAG (p.Glu136=) c.497_498delinsAG (p.Glu166=) c.584_585delinsAG (p.Glu195=) c.416_417delinsAG (p.Glu139=) c.506_507delinsAG (p.Glu169=) c.256_257delinsAG c.103_104delinsAG n.120_121delinsAG c.449_450delinsAG (p.Glu150=) c.593_594delinsAG (p.Glu198=) n.506_507delinsAG n.607_608delinsAG n.907_908delinsAG c.536_537delinsAG (p.Glu179=) n.856_857delinsAG n.897_898delinsAG n.909_910delinsAG | |
15 | g.40411301del | CA221937 | IVD | c.408del (p.Glu136AspfsTer11) c.498del (p.Glu166AspfsTer11) c.585del (p.Glu195AspfsTer11) c.417del (p.Glu139AspfsTer11) c.507del (p.Glu169AspfsTer11) c.257del c.104del n.121del c.450del (p.Glu150AspfsTer11) c.594del (p.Glu198AspfsTer11) n.507del n.608del n.908del c.537del (p.Glu179AspfsTer11) n.857del n.898del n.910del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411301G>A | CA489740061 | IVD | c.408G>A (p.Glu136=) c.498G>A (p.Glu166=) c.585G>A (p.Glu195=) c.417G>A (p.Glu139=) c.507G>A (p.Glu169=) c.257G>A c.104G>A n.121G>A c.450G>A (p.Glu150=) c.594G>A (p.Glu198=) n.507G>A n.608G>A n.908G>A c.537G>A (p.Glu179=) n.857G>A n.898G>A n.910G>A | ClinVar dbSNP gnomAD v4 |
15 | g.40411301G>C | CA391717119 | IVD | c.408G>C (p.Glu136Asp) c.498G>C (p.Glu166Asp) c.585G>C (p.Glu195Asp) c.417G>C (p.Glu139Asp) c.507G>C (p.Glu169Asp) c.257G>C c.104G>C n.121G>C c.450G>C (p.Glu150Asp) c.594G>C (p.Glu198Asp) n.507G>C n.608G>C n.908G>C c.537G>C (p.Glu179Asp) n.857G>C n.898G>C n.910G>C | |
15 | g.40411301G= | CA2171765811 | IVD | c.408G= (p.Glu136=) c.498G= (p.Glu166=) c.585G= (p.Glu195=) c.417G= (p.Glu139=) c.507G= (p.Glu169=) c.257G= c.104G= n.121G= c.450G= (p.Glu150=) c.594G= (p.Glu198=) n.507G= n.608G= n.908G= c.537G= (p.Glu179=) n.857G= n.898G= n.910G= | |
15 | g.40411301G>T | CA391717122 | IVD | c.408G>T (p.Glu136Asp) c.498G>T (p.Glu166Asp) c.585G>T (p.Glu195Asp) c.417G>T (p.Glu139Asp) c.507G>T (p.Glu169Asp) c.257G>T c.104G>T n.121G>T c.450G>T (p.Glu150Asp) c.594G>T (p.Glu198Asp) n.507G>T n.608G>T n.908G>T c.537G>T (p.Glu179Asp) n.857G>T n.898G>T n.910G>T | |
15 | g.40411302C>A | CA391717128 | IVD | c.409C>A (p.Pro137Thr) c.499C>A (p.Pro167Thr) c.586C>A (p.Pro196Thr) c.418C>A (p.Pro140Thr) c.508C>A (p.Pro170Thr) c.258C>A c.105C>A n.122C>A c.451C>A (p.Pro151Thr) c.595C>A (p.Pro199Thr) n.508C>A n.609C>A n.909C>A c.538C>A (p.Pro180Thr) n.858C>A n.899C>A n.911C>A | |
15 | g.40411302C>G | CA391717127 | IVD | c.409C>G (p.Pro137Ala) c.499C>G (p.Pro167Ala) c.586C>G (p.Pro196Ala) c.418C>G (p.Pro140Ala) c.508C>G (p.Pro170Ala) c.258C>G c.105C>G n.122C>G c.451C>G (p.Pro151Ala) c.595C>G (p.Pro199Ala) n.508C>G n.609C>G n.909C>G c.538C>G (p.Pro180Ala) n.858C>G n.899C>G n.911C>G | |
15 | g.40411302C>T | CA391717126 | IVD | c.409C>T (p.Pro137Ser) c.499C>T (p.Pro167Ser) c.586C>T (p.Pro196Ser) c.418C>T (p.Pro140Ser) c.508C>T (p.Pro170Ser) c.258C>T c.105C>T n.122C>T c.451C>T (p.Pro151Ser) c.595C>T (p.Pro199Ser) n.508C>T n.609C>T n.909C>T c.538C>T (p.Pro180Ser) n.858C>T n.899C>T n.911C>T | |
15 | g.40411303C>A | CA391717129 | IVD | c.410C>A (p.Pro137His) c.500C>A (p.Pro167His) c.587C>A (p.Pro196His) c.419C>A (p.Pro140His) c.509C>A (p.Pro170His) c.259C>A c.106C>A n.123C>A c.452C>A (p.Pro151His) c.596C>A (p.Pro199His) n.509C>A n.610C>A n.910C>A c.539C>A (p.Pro180His) n.859C>A n.900C>A n.912C>A | |
15 | g.40411303C= | CA2171765812 | IVD | c.410C= (p.Pro137=) c.500C= (p.Pro167=) c.587C= (p.Pro196=) c.419C= (p.Pro140=) c.509C= (p.Pro170=) c.259C= c.106C= n.123C= c.452C= (p.Pro151=) c.596C= (p.Pro199=) n.509C= n.610C= n.910C= c.539C= (p.Pro180=) n.859C= n.900C= n.912C= | |
15 | g.40411303C>G | CA391717131 | IVD | c.410C>G (p.Pro137Arg) c.500C>G (p.Pro167Arg) c.587C>G (p.Pro196Arg) c.419C>G (p.Pro140Arg) c.509C>G (p.Pro170Arg) c.259C>G c.106C>G n.123C>G c.452C>G (p.Pro151Arg) c.596C>G (p.Pro199Arg) n.509C>G n.610C>G n.910C>G c.539C>G (p.Pro180Arg) n.859C>G n.900C>G n.912C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411303C>T | CA391717130 | IVD | c.410C>T (p.Pro137Leu) c.500C>T (p.Pro167Leu) c.587C>T (p.Pro196Leu) c.419C>T (p.Pro140Leu) c.509C>T (p.Pro170Leu) c.259C>T c.106C>T n.123C>T c.452C>T (p.Pro151Leu) c.596C>T (p.Pro199Leu) n.509C>T n.610C>T n.910C>T c.539C>T (p.Pro180Leu) n.859C>T n.900C>T n.912C>T | |
15 | g.40411304C>A | CA7480655 | IVD | c.411C>A (p.Pro137=) c.501C>A (p.Pro167=) c.588C>A (p.Pro196=) c.420C>A (p.Pro140=) c.510C>A (p.Pro170=) c.260C>A c.107C>A n.124C>A c.453C>A (p.Pro151=) c.597C>A (p.Pro199=) n.510C>A n.611C>A n.911C>A c.540C>A (p.Pro180=) n.860C>A n.901C>A n.913C>A | dbSNP ExAC gnomAD v4 |
15 | g.40411304C= | CA2171765813 | IVD | c.411C= (p.Pro137=) c.501C= (p.Pro167=) c.588C= (p.Pro196=) c.420C= (p.Pro140=) c.510C= (p.Pro170=) c.260C= c.107C= n.124C= c.453C= (p.Pro151=) c.597C= (p.Pro199=) n.510C= n.611C= n.911C= c.540C= (p.Pro180=) n.860C= n.901C= n.913C= | |
15 | g.40411304C>G | CA489740074 | IVD | c.411C>G (p.Pro137=) c.501C>G (p.Pro167=) c.588C>G (p.Pro196=) c.420C>G (p.Pro140=) c.510C>G (p.Pro170=) c.260C>G c.107C>G n.124C>G c.453C>G (p.Pro151=) c.597C>G (p.Pro199=) n.510C>G n.611C>G n.911C>G c.540C>G (p.Pro180=) n.860C>G n.901C>G n.913C>G | |
15 | g.40411304C>T | CA7480656 | IVD | c.411C>T (p.Pro137=) c.501C>T (p.Pro167=) c.588C>T (p.Pro196=) c.420C>T (p.Pro140=) c.510C>T (p.Pro170=) c.260C>T c.107C>T n.124C>T c.453C>T (p.Pro151=) c.597C>T (p.Pro199=) n.510C>T n.611C>T n.911C>T c.540C>T (p.Pro180=) n.860C>T n.901C>T n.913C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411305A>C | CA391717132 | IVD | c.412A>C (p.Asn138His) c.502A>C (p.Asn168His) c.589A>C (p.Asn197His) c.421A>C (p.Asn141His) c.511A>C (p.Asn171His) c.261A>C c.108A>C n.125A>C c.454A>C (p.Asn152His) c.598A>C (p.Asn200His) n.511A>C n.612A>C n.912A>C c.541A>C (p.Asn181His) n.861A>C n.902A>C n.914A>C | |
15 | g.40411305A>G | CA391717133 | IVD | c.412A>G (p.Asn138Asp) c.502A>G (p.Asn168Asp) c.589A>G (p.Asn197Asp) c.421A>G (p.Asn141Asp) c.511A>G (p.Asn171Asp) c.261A>G c.108A>G n.125A>G c.454A>G (p.Asn152Asp) c.598A>G (p.Asn200Asp) n.511A>G n.612A>G n.912A>G c.541A>G (p.Asn181Asp) n.861A>G n.902A>G n.914A>G | |
15 | g.40411305A>T | CA391717134 | IVD | c.412A>T (p.Asn138Tyr) c.502A>T (p.Asn168Tyr) c.589A>T (p.Asn197Tyr) c.421A>T (p.Asn141Tyr) c.511A>T (p.Asn171Tyr) c.261A>T c.108A>T n.125A>T c.454A>T (p.Asn152Tyr) c.598A>T (p.Asn200Tyr) n.511A>T n.612A>T n.912A>T c.541A>T (p.Asn181Tyr) n.861A>T n.902A>T n.914A>T | |
15 | g.40411306A= | CA2171765814 | IVD | c.413A= (p.Asn138=) c.503A= (p.Asn168=) c.590A= (p.Asn197=) c.422A= (p.Asn141=) c.512A= (p.Asn171=) c.262A= c.109A= n.126A= c.455A= (p.Asn152=) c.599A= (p.Asn200=) n.512A= n.613A= n.913A= c.542A= (p.Asn181=) n.862A= n.903A= n.915A= | |
15 | g.40411306A>C | CA391717135 | IVD | c.413A>C (p.Asn138Thr) c.503A>C (p.Asn168Thr) c.590A>C (p.Asn197Thr) c.422A>C (p.Asn141Thr) c.512A>C (p.Asn171Thr) c.262A>C c.109A>C n.126A>C c.455A>C (p.Asn152Thr) c.599A>C (p.Asn200Thr) n.512A>C n.613A>C n.913A>C c.542A>C (p.Asn181Thr) n.862A>C n.903A>C n.915A>C | |
15 | g.40411306A>G | CA7480657 | IVD | c.413A>G (p.Asn138Ser) c.503A>G (p.Asn168Ser) c.590A>G (p.Asn197Ser) c.422A>G (p.Asn141Ser) c.512A>G (p.Asn171Ser) c.262A>G c.109A>G n.126A>G c.455A>G (p.Asn152Ser) c.599A>G (p.Asn200Ser) n.512A>G n.613A>G n.913A>G c.542A>G (p.Asn181Ser) n.862A>G n.903A>G n.915A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411306A>T | CA391717136 | IVD | c.413A>T (p.Asn138Ile) c.503A>T (p.Asn168Ile) c.590A>T (p.Asn197Ile) c.422A>T (p.Asn141Ile) c.512A>T (p.Asn171Ile) c.262A>T c.109A>T n.126A>T c.455A>T (p.Asn152Ile) c.599A>T (p.Asn200Ile) n.512A>T n.613A>T n.913A>T c.542A>T (p.Asn181Ile) n.862A>T n.903A>T n.915A>T | |
15 | g.40411307T>A | CA391717137 | IVD | c.414T>A (p.Asn138Lys) c.504T>A (p.Asn168Lys) c.591T>A (p.Asn197Lys) c.423T>A (p.Asn141Lys) c.513T>A (p.Asn171Lys) c.263T>A c.110T>A n.127T>A c.456T>A (p.Asn152Lys) c.600T>A (p.Asn200Lys) n.513T>A n.614T>A n.914T>A c.543T>A (p.Asn181Lys) n.863T>A n.904T>A n.916T>A | |
15 | g.40411307T>C | CA489740085 | IVD | c.414T>C (p.Asn138=) c.504T>C (p.Asn168=) c.591T>C (p.Asn197=) c.423T>C (p.Asn141=) c.513T>C (p.Asn171=) c.263T>C c.110T>C n.127T>C c.456T>C (p.Asn152=) c.600T>C (p.Asn200=) n.513T>C n.614T>C n.914T>C c.543T>C (p.Asn181=) n.863T>C n.904T>C n.916T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411307T>G | CA391717138 | IVD | c.414T>G (p.Asn138Lys) c.504T>G (p.Asn168Lys) c.591T>G (p.Asn197Lys) c.423T>G (p.Asn141Lys) c.513T>G (p.Asn171Lys) c.263T>G c.110T>G n.127T>G c.456T>G (p.Asn152Lys) c.600T>G (p.Asn200Lys) n.513T>G n.614T>G n.914T>G c.543T>G (p.Asn181Lys) n.863T>G n.904T>G n.916T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411307T= | CA2171765815 | IVD | c.414T= (p.Asn138=) c.504T= (p.Asn168=) c.591T= (p.Asn197=) c.423T= (p.Asn141=) c.513T= (p.Asn171=) c.263T= c.110T= n.127T= c.456T= (p.Asn152=) c.600T= (p.Asn200=) n.513T= n.614T= n.914T= c.543T= (p.Asn181=) n.863T= n.904T= n.916T= | |
15 | g.40411308G>A | CA391717141 | IVD | c.415G>A (p.Ala139Thr) c.505G>A (p.Ala169Thr) c.592G>A (p.Ala198Thr) c.424G>A (p.Ala142Thr) c.514G>A (p.Ala172Thr) c.264G>A c.111G>A n.128G>A c.457G>A (p.Ala153Thr) c.601G>A (p.Ala201Thr) n.514G>A n.615G>A n.915G>A c.544G>A (p.Ala182Thr) n.864G>A n.905G>A n.917G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411308G>C | CA391717140 | IVD | c.415G>C (p.Ala139Pro) c.505G>C (p.Ala169Pro) c.592G>C (p.Ala198Pro) c.424G>C (p.Ala142Pro) c.514G>C (p.Ala172Pro) c.264G>C c.111G>C n.128G>C c.457G>C (p.Ala153Pro) c.601G>C (p.Ala201Pro) n.514G>C n.615G>C n.915G>C c.544G>C (p.Ala182Pro) n.864G>C n.905G>C n.917G>C | |
15 | g.40411308G= | CA2171765816 | IVD | c.415G= (p.Ala139=) c.505G= (p.Ala169=) c.592G= (p.Ala198=) c.424G= (p.Ala142=) c.514G= (p.Ala172=) c.264G= c.111G= n.128G= c.457G= (p.Ala153=) c.601G= (p.Ala201=) n.514G= n.615G= n.915G= c.544G= (p.Ala182=) n.864G= n.905G= n.917G= | |
15 | g.40411308G>T | CA391717139 | IVD | c.415G>T (p.Ala139Ser) c.505G>T (p.Ala169Ser) c.592G>T (p.Ala198Ser) c.424G>T (p.Ala142Ser) c.514G>T (p.Ala172Ser) c.264G>T c.111G>T n.128G>T c.457G>T (p.Ala153Ser) c.601G>T (p.Ala201Ser) n.514G>T n.615G>T n.915G>T c.544G>T (p.Ala182Ser) n.864G>T n.905G>T n.917G>T | |
15 | g.40411309C>A | CA391717142 | IVD | c.416C>A (p.Ala139Glu) c.506C>A (p.Ala169Glu) c.593C>A (p.Ala198Glu) c.425C>A (p.Ala142Glu) c.515C>A (p.Ala172Glu) c.265C>A c.112C>A n.129C>A c.458C>A (p.Ala153Glu) c.602C>A (p.Ala201Glu) n.515C>A n.616C>A n.916C>A c.545C>A (p.Ala182Glu) n.865C>A n.906C>A n.918C>A | |
15 | g.40411309C= | CA2171765817 | IVD | c.416C= (p.Ala139=) c.506C= (p.Ala169=) c.593C= (p.Ala198=) c.425C= (p.Ala142=) c.515C= (p.Ala172=) c.265C= c.112C= n.129C= c.458C= (p.Ala153=) c.602C= (p.Ala201=) n.515C= n.616C= n.916C= c.545C= (p.Ala182=) n.865C= n.906C= n.918C= | |
15 | g.40411309C>G | CA391717143 | IVD | c.416C>G (p.Ala139Gly) c.506C>G (p.Ala169Gly) c.593C>G (p.Ala198Gly) c.425C>G (p.Ala142Gly) c.515C>G (p.Ala172Gly) c.265C>G c.112C>G n.129C>G c.458C>G (p.Ala153Gly) c.602C>G (p.Ala201Gly) n.515C>G n.616C>G n.916C>G c.545C>G (p.Ala182Gly) n.865C>G n.906C>G n.918C>G | |
15 | g.40411309C>T | CA391717144 | IVD | c.416C>T (p.Ala139Val) c.506C>T (p.Ala169Val) c.593C>T (p.Ala198Val) c.425C>T (p.Ala142Val) c.515C>T (p.Ala172Val) c.265C>T c.112C>T n.129C>T c.458C>T (p.Ala153Val) c.602C>T (p.Ala201Val) n.515C>T n.616C>T n.916C>T c.545C>T (p.Ala182Val) n.865C>T n.906C>T n.918C>T | |
15 | g.40411309_40411310insT | CA617232336 | IVD | c.416_417insT (p.Gly140ArgfsTer3) c.506_507insT (p.Gly170ArgfsTer3) c.593_594insT (p.Gly199ArgfsTer3) c.425_426insT (p.Gly143ArgfsTer3) c.515_516insT (p.Gly173ArgfsTer3) c.265_266insT c.112_113insT n.129_130insT c.458_459insT (p.Gly154ArgfsTer3) c.602_603insT (p.Gly202ArgfsTer3) n.515_516insT n.616_617insT n.916_917insT c.545_546insT (p.Gly183ArgfsTer3) n.865_866insT n.906_907insT n.918_919insT | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411310A= | CA2171765818 | IVD | c.417A= (p.Ala139=) c.507A= (p.Ala169=) c.594A= (p.Ala198=) c.426A= (p.Ala142=) c.516A= (p.Ala172=) c.266A= c.113A= n.130A= c.459A= (p.Ala153=) c.603A= (p.Ala201=) n.516A= n.617A= n.917A= c.546A= (p.Ala182=) n.866A= n.907A= n.919A= | |
15 | g.40411310A>C | CA489740098 | IVD | c.417A>C (p.Ala139=) c.507A>C (p.Ala169=) c.594A>C (p.Ala198=) c.426A>C (p.Ala142=) c.516A>C (p.Ala172=) c.266A>C c.113A>C n.130A>C c.459A>C (p.Ala153=) c.603A>C (p.Ala201=) n.516A>C n.617A>C n.917A>C c.546A>C (p.Ala182=) n.866A>C n.907A>C n.919A>C | dbSNP gnomAD v4 |
15 | g.40411310A>G | CA489740100 | IVD | c.417A>G (p.Ala139=) c.507A>G (p.Ala169=) c.594A>G (p.Ala198=) c.426A>G (p.Ala142=) c.516A>G (p.Ala172=) c.266A>G c.113A>G n.130A>G c.459A>G (p.Ala153=) c.603A>G (p.Ala201=) n.516A>G n.617A>G n.917A>G c.546A>G (p.Ala182=) n.866A>G n.907A>G n.919A>G | ClinVar |
15 | g.40411310A>T | CA489740102 | IVD | c.417A>T (p.Ala139=) c.507A>T (p.Ala169=) c.594A>T (p.Ala198=) c.426A>T (p.Ala142=) c.516A>T (p.Ala172=) c.266A>T c.113A>T n.130A>T c.459A>T (p.Ala153=) c.603A>T (p.Ala201=) n.516A>T n.617A>T n.917A>T c.546A>T (p.Ala182=) n.866A>T n.907A>T n.919A>T | ClinVar gnomAD v4 |
15 | g.40411311G>A | CA391717145 | IVD | c.418G>A (p.Gly140Ser) c.508G>A (p.Gly170Ser) c.595G>A (p.Gly199Ser) c.427G>A (p.Gly143Ser) c.517G>A (p.Gly173Ser) c.267G>A c.114G>A n.131G>A c.460G>A (p.Gly154Ser) c.604G>A (p.Gly202Ser) n.517G>A n.618G>A n.918G>A c.547G>A (p.Gly183Ser) n.867G>A n.908G>A n.920G>A | |
15 | g.40411311G>C | CA391717146 | IVD | c.418G>C (p.Gly140Arg) c.508G>C (p.Gly170Arg) c.595G>C (p.Gly199Arg) c.427G>C (p.Gly143Arg) c.517G>C (p.Gly173Arg) c.267G>C c.114G>C n.131G>C c.460G>C (p.Gly154Arg) c.604G>C (p.Gly202Arg) n.517G>C n.618G>C n.918G>C c.547G>C (p.Gly183Arg) n.867G>C n.908G>C n.920G>C | |
15 | g.40411311G>T | CA391717147 | IVD | c.418G>T (p.Gly140Cys) c.508G>T (p.Gly170Cys) c.595G>T (p.Gly199Cys) c.427G>T (p.Gly143Cys) c.517G>T (p.Gly173Cys) c.267G>T c.114G>T n.131G>T c.460G>T (p.Gly154Cys) c.604G>T (p.Gly202Cys) n.517G>T n.618G>T n.918G>T c.547G>T (p.Gly183Cys) n.867G>T n.908G>T n.920G>T | |
15 | g.40411312G>A | CA391717148 | IVD | c.419G>A (p.Gly140Asp) c.509G>A (p.Gly170Asp) c.596G>A (p.Gly199Asp) c.428G>A (p.Gly143Asp) c.518G>A (p.Gly173Asp) c.268G>A c.115G>A n.132G>A c.461G>A (p.Gly154Asp) c.605G>A (p.Gly202Asp) n.518G>A n.619G>A n.919G>A c.548G>A (p.Gly183Asp) n.868G>A n.909G>A n.921G>A | |
15 | g.40411312G>C | CA391717149 | IVD | c.419G>C (p.Gly140Ala) c.509G>C (p.Gly170Ala) c.596G>C (p.Gly199Ala) c.428G>C (p.Gly143Ala) c.518G>C (p.Gly173Ala) c.268G>C c.115G>C n.132G>C c.461G>C (p.Gly154Ala) c.605G>C (p.Gly202Ala) n.518G>C n.619G>C n.919G>C c.548G>C (p.Gly183Ala) n.868G>C n.909G>C n.921G>C | |
15 | g.40411312G>T | CA391717150 | IVD | c.419G>T (p.Gly140Val) c.509G>T (p.Gly170Val) c.596G>T (p.Gly199Val) c.428G>T (p.Gly143Val) c.518G>T (p.Gly173Val) c.268G>T c.115G>T n.132G>T c.461G>T (p.Gly154Val) c.605G>T (p.Gly202Val) n.518G>T n.619G>T n.919G>T c.548G>T (p.Gly183Val) n.868G>T n.909G>T n.921G>T | |
15 | g.40411313C>A | CA489740108 | IVD | c.420C>A (p.Gly140=) c.510C>A (p.Gly170=) c.597C>A (p.Gly199=) c.429C>A (p.Gly143=) c.519C>A (p.Gly173=) c.269C>A c.116C>A n.133C>A c.462C>A (p.Gly154=) c.606C>A (p.Gly202=) n.519C>A n.620C>A n.920C>A c.549C>A (p.Gly183=) n.869C>A n.910C>A n.922C>A | |
15 | g.40411313C>G | CA489740109 | IVD | c.420C>G (p.Gly140=) c.510C>G (p.Gly170=) c.597C>G (p.Gly199=) c.429C>G (p.Gly143=) c.519C>G (p.Gly173=) c.269C>G c.116C>G n.133C>G c.462C>G (p.Gly154=) c.606C>G (p.Gly202=) n.519C>G n.620C>G n.920C>G c.549C>G (p.Gly183=) n.869C>G n.910C>G n.922C>G | |
15 | g.40411313C>T | CA489740111 | IVD | c.420C>T (p.Gly140=) c.510C>T (p.Gly170=) c.597C>T (p.Gly199=) c.429C>T (p.Gly143=) c.519C>T (p.Gly173=) c.269C>T c.116C>T n.133C>T c.462C>T (p.Gly154=) c.606C>T (p.Gly202=) n.519C>T n.620C>T n.920C>T c.549C>T (p.Gly183=) n.869C>T n.910C>T n.922C>T | |
15 | g.40411314T>A | CA391717151 | IVD | c.421T>A (p.Ser141Thr) c.511T>A (p.Ser171Thr) c.598T>A (p.Ser200Thr) c.430T>A (p.Ser144Thr) c.520T>A (p.Ser174Thr) c.270T>A c.117T>A n.134T>A c.463T>A (p.Ser155Thr) c.607T>A (p.Ser203Thr) n.520T>A n.621T>A n.921T>A c.550T>A (p.Ser184Thr) n.870T>A n.911T>A n.923T>A | |
15 | g.40411314T>C | CA391717152 | IVD | c.421T>C (p.Ser141Pro) c.511T>C (p.Ser171Pro) c.598T>C (p.Ser200Pro) c.430T>C (p.Ser144Pro) c.520T>C (p.Ser174Pro) c.270T>C c.117T>C n.134T>C c.463T>C (p.Ser155Pro) c.607T>C (p.Ser203Pro) n.520T>C n.621T>C n.921T>C c.550T>C (p.Ser184Pro) n.870T>C n.911T>C n.923T>C | |
15 | g.40411314T>G | CA391717153 | IVD | c.421T>G (p.Ser141Ala) c.511T>G (p.Ser171Ala) c.598T>G (p.Ser200Ala) c.430T>G (p.Ser144Ala) c.520T>G (p.Ser174Ala) c.270T>G c.117T>G n.134T>G c.463T>G (p.Ser155Ala) c.607T>G (p.Ser203Ala) n.520T>G n.621T>G n.921T>G c.550T>G (p.Ser184Ala) n.870T>G n.911T>G n.923T>G | |
15 | g.40411315C>A | CA391717156 | IVD | c.422C>A (p.Ser141Tyr) c.512C>A (p.Ser171Tyr) c.599C>A (p.Ser200Tyr) c.431C>A (p.Ser144Tyr) c.521C>A (p.Ser174Tyr) c.271C>A c.118C>A n.135C>A c.464C>A (p.Ser155Tyr) c.608C>A (p.Ser203Tyr) n.521C>A n.622C>A n.922C>A c.551C>A (p.Ser184Tyr) n.871C>A n.912C>A n.924C>A | |
15 | g.40411315C>G | CA391717155 | IVD | c.422C>G (p.Ser141Cys) c.512C>G (p.Ser171Cys) c.599C>G (p.Ser200Cys) c.431C>G (p.Ser144Cys) c.521C>G (p.Ser174Cys) c.271C>G c.118C>G n.135C>G c.464C>G (p.Ser155Cys) c.608C>G (p.Ser203Cys) n.521C>G n.622C>G n.922C>G c.551C>G (p.Ser184Cys) n.871C>G n.912C>G n.924C>G | gnomAD v4 |
15 | g.40411315C>T | CA391717154 | IVD | c.422C>T (p.Ser141Phe) c.512C>T (p.Ser171Phe) c.599C>T (p.Ser200Phe) c.431C>T (p.Ser144Phe) c.521C>T (p.Ser174Phe) c.271C>T c.118C>T n.135C>T c.464C>T (p.Ser155Phe) c.608C>T (p.Ser203Phe) n.521C>T n.622C>T n.922C>T c.551C>T (p.Ser184Phe) n.871C>T n.912C>T n.924C>T | |
15 | g.40411316T>A | CA489740128 | IVD | c.423T>A (p.Ser141=) c.513T>A (p.Ser171=) c.600T>A (p.Ser200=) c.432T>A (p.Ser144=) c.522T>A (p.Ser174=) c.272T>A c.119T>A n.136T>A c.465T>A (p.Ser155=) c.609T>A (p.Ser203=) n.522T>A n.623T>A n.923T>A c.552T>A (p.Ser184=) n.872T>A n.913T>A n.925T>A | |
15 | g.40411316T>C | CA489740130 | IVD | c.423T>C (p.Ser141=) c.513T>C (p.Ser171=) c.600T>C (p.Ser200=) c.432T>C (p.Ser144=) c.522T>C (p.Ser174=) c.272T>C c.119T>C n.136T>C c.465T>C (p.Ser155=) c.609T>C (p.Ser203=) n.522T>C n.623T>C n.923T>C c.552T>C (p.Ser184=) n.872T>C n.913T>C n.925T>C | ClinVar dbSNP |
15 | g.40411316T>G | CA489740132 | IVD | c.423T>G (p.Ser141=) c.513T>G (p.Ser171=) c.600T>G (p.Ser200=) c.432T>G (p.Ser144=) c.522T>G (p.Ser174=) c.272T>G c.119T>G n.136T>G c.465T>G (p.Ser155=) c.609T>G (p.Ser203=) n.522T>G n.623T>G n.923T>G c.552T>G (p.Ser184=) n.872T>G n.913T>G n.925T>G | |
15 | g.40411317G>A | CA391717159 | IVD | c.424G>A (p.Asp142Asn) c.514G>A (p.Asp172Asn) c.601G>A (p.Asp201Asn) c.433G>A (p.Asp145Asn) c.523G>A (p.Asp175Asn) c.273G>A c.120G>A n.137G>A c.466G>A (p.Asp156Asn) c.610G>A (p.Asp204Asn) n.523G>A n.624G>A n.924G>A c.553G>A (p.Asp185Asn) n.873G>A n.914G>A n.926G>A | |
15 | g.40411317G>C | CA391717157 | IVD | c.424G>C (p.Asp142His) c.514G>C (p.Asp172His) c.601G>C (p.Asp201His) c.433G>C (p.Asp145His) c.523G>C (p.Asp175His) c.273G>C c.120G>C n.137G>C c.466G>C (p.Asp156His) c.610G>C (p.Asp204His) n.523G>C n.624G>C n.924G>C c.553G>C (p.Asp185His) n.873G>C n.914G>C n.926G>C | |
15 | g.40411317G>T | CA391717158 | IVD | c.424G>T (p.Asp142Tyr) c.514G>T (p.Asp172Tyr) c.601G>T (p.Asp201Tyr) c.433G>T (p.Asp145Tyr) c.523G>T (p.Asp175Tyr) c.273G>T c.120G>T n.137G>T c.466G>T (p.Asp156Tyr) c.610G>T (p.Asp204Tyr) n.523G>T n.624G>T n.924G>T c.553G>T (p.Asp185Tyr) n.873G>T n.914G>T n.926G>T | |
15 | g.40411318A>C | CA391717160 | IVD | c.425A>C (p.Asp142Ala) c.515A>C (p.Asp172Ala) c.602A>C (p.Asp201Ala) c.434A>C (p.Asp145Ala) c.524A>C (p.Asp175Ala) c.274A>C c.121A>C n.138A>C c.467A>C (p.Asp156Ala) c.611A>C (p.Asp204Ala) n.524A>C n.625A>C n.925A>C c.554A>C (p.Asp185Ala) n.874A>C n.915A>C n.927A>C | |
15 | g.40411318A>G | CA391717161 | IVD | c.425A>G (p.Asp142Gly) c.515A>G (p.Asp172Gly) c.602A>G (p.Asp201Gly) c.434A>G (p.Asp145Gly) c.524A>G (p.Asp175Gly) c.274A>G c.121A>G n.138A>G c.467A>G (p.Asp156Gly) c.611A>G (p.Asp204Gly) n.524A>G n.625A>G n.925A>G c.554A>G (p.Asp185Gly) n.874A>G n.915A>G n.927A>G | |
15 | g.40411318A>T | CA391717162 | IVD | c.425A>T (p.Asp142Val) c.515A>T (p.Asp172Val) c.602A>T (p.Asp201Val) c.434A>T (p.Asp145Val) c.524A>T (p.Asp175Val) c.274A>T c.121A>T n.138A>T c.467A>T (p.Asp156Val) c.611A>T (p.Asp204Val) n.524A>T n.625A>T n.925A>T c.554A>T (p.Asp185Val) n.874A>T n.915A>T n.927A>T | |
15 | g.40411318_40411321delinsATGT | CA2171765819 | IVD | c.425_428delinsATGT (p.Asp142=) c.515_518delinsATGT (p.Asp172=) c.602_605delinsATGT (p.Asp201=) c.434_437delinsATGT (p.Asp145=) c.524_527delinsATGT (p.Asp175=) c.274_277delinsATGT c.121_124delinsATGT n.138_141delinsATGT c.467_470delinsATGT (p.Asp156=) c.611_614delinsATGT (p.Asp204=) n.524_527delinsATGT n.625_628delinsATGT n.925_928delinsATGT c.554_557delinsATGT (p.Asp185=) n.874_877delinsATGT n.915_918delinsATGT n.927_930delinsATGT | |
15 | g.40411319T>A | CA391717163 | IVD | c.426T>A (p.Asp142Glu) c.516T>A (p.Asp172Glu) c.603T>A (p.Asp201Glu) c.435T>A (p.Asp145Glu) c.525T>A (p.Asp175Glu) c.275T>A c.122T>A n.139T>A c.468T>A (p.Asp156Glu) c.612T>A (p.Asp204Glu) n.525T>A n.626T>A n.926T>A c.555T>A (p.Asp185Glu) n.875T>A n.916T>A n.928T>A | COSMIC |
15 | g.40411319T>C | CA489740142 | IVD | c.426T>C (p.Asp142=) c.516T>C (p.Asp172=) c.603T>C (p.Asp201=) c.435T>C (p.Asp145=) c.525T>C (p.Asp175=) c.275T>C c.122T>C n.139T>C c.468T>C (p.Asp156=) c.612T>C (p.Asp204=) n.525T>C n.626T>C n.926T>C c.555T>C (p.Asp185=) n.875T>C n.916T>C n.928T>C | |
15 | g.40411319T>G | CA391717164 | IVD | c.426T>G (p.Asp142Glu) c.516T>G (p.Asp172Glu) c.603T>G (p.Asp201Glu) c.435T>G (p.Asp145Glu) c.525T>G (p.Asp175Glu) c.275T>G c.122T>G n.139T>G c.468T>G (p.Asp156Glu) c.612T>G (p.Asp204Glu) n.525T>G n.626T>G n.926T>G c.555T>G (p.Asp185Glu) n.875T>G n.916T>G n.928T>G | |
15 | g.40411322_40411324del | CA891863071 | IVD | c.429_431del (p.Val144del) c.519_521del (p.Val174del) c.606_608del (p.Val203del) c.438_440del (p.Val147del) c.528_530del (p.Val177del) c.278_280del c.125_127del n.142_144del c.471_473del (p.Val158del) c.615_617del (p.Val206del) n.528_530del n.629_631del n.929_931del c.558_560del (p.Val187del) n.878_880del n.919_921del n.931_933del | ClinVar dbSNP gnomAD v4 |
15 | g.40411320G>A | CA268780158 | IVD | c.427G>A (p.Val143Ile) c.517G>A (p.Val173Ile) c.604G>A (p.Val202Ile) c.436G>A (p.Val146Ile) c.526G>A (p.Val176Ile) c.276G>A c.123G>A n.140G>A c.469G>A (p.Val157Ile) c.613G>A (p.Val205Ile) n.526G>A n.627G>A n.927G>A c.556G>A (p.Val186Ile) n.876G>A n.917G>A n.929G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411320G>C | CA391717167 | IVD | c.427G>C (p.Val143Leu) c.517G>C (p.Val173Leu) c.604G>C (p.Val202Leu) c.436G>C (p.Val146Leu) c.526G>C (p.Val176Leu) c.276G>C c.123G>C n.140G>C c.469G>C (p.Val157Leu) c.613G>C (p.Val205Leu) n.526G>C n.627G>C n.927G>C c.556G>C (p.Val186Leu) n.876G>C n.917G>C n.929G>C | |
15 | g.40411320G= | CA2171765820 | IVD | c.427G= (p.Val143=) c.517G= (p.Val173=) c.604G= (p.Val202=) c.436G= (p.Val146=) c.526G= (p.Val176=) c.276G= c.123G= n.140G= c.469G= (p.Val157=) c.613G= (p.Val205=) n.526G= n.627G= n.927G= c.556G= (p.Val186=) n.876G= n.917G= n.929G= | |
15 | g.40411320G>T | CA391717169 | IVD | c.427G>T (p.Val143Phe) c.517G>T (p.Val173Phe) c.604G>T (p.Val202Phe) c.436G>T (p.Val146Phe) c.526G>T (p.Val176Phe) c.276G>T c.123G>T n.140G>T c.469G>T (p.Val157Phe) c.613G>T (p.Val205Phe) n.526G>T n.627G>T n.927G>T c.556G>T (p.Val186Phe) n.876G>T n.917G>T n.929G>T | |
15 | g.40411321T>A | CA391717171 | IVD | c.428T>A (p.Val143Asp) c.518T>A (p.Val173Asp) c.605T>A (p.Val202Asp) c.437T>A (p.Val146Asp) c.527T>A (p.Val176Asp) c.277T>A c.124T>A n.141T>A c.470T>A (p.Val157Asp) c.614T>A (p.Val205Asp) n.527T>A n.628T>A n.928T>A c.557T>A (p.Val186Asp) n.877T>A n.918T>A n.930T>A | |
15 | g.40411321T>C | CA391717173 | IVD | c.428T>C (p.Val143Ala) c.518T>C (p.Val173Ala) c.605T>C (p.Val202Ala) c.437T>C (p.Val146Ala) c.527T>C (p.Val176Ala) c.277T>C c.124T>C n.141T>C c.470T>C (p.Val157Ala) c.614T>C (p.Val205Ala) n.527T>C n.628T>C n.928T>C c.557T>C (p.Val186Ala) n.877T>C n.918T>C n.930T>C | |
15 | g.40411321T>G | CA391717175 | IVD | c.428T>G (p.Val143Gly) c.518T>G (p.Val173Gly) c.605T>G (p.Val202Gly) c.437T>G (p.Val146Gly) c.527T>G (p.Val176Gly) c.277T>G c.124T>G n.141T>G c.470T>G (p.Val157Gly) c.614T>G (p.Val205Gly) n.527T>G n.628T>G n.928T>G c.557T>G (p.Val186Gly) n.877T>G n.918T>G n.930T>G | |
15 | g.40411322T>A | CA489740155 | IVD | c.429T>A (p.Val143=) c.519T>A (p.Val173=) c.606T>A (p.Val202=) c.438T>A (p.Val146=) c.528T>A (p.Val176=) c.278T>A c.125T>A n.142T>A c.471T>A (p.Val157=) c.615T>A (p.Val205=) n.528T>A n.629T>A n.929T>A c.558T>A (p.Val186=) n.878T>A n.919T>A n.931T>A | |
15 | g.40411322T>C | CA489740157 | IVD | c.429T>C (p.Val143=) c.519T>C (p.Val173=) c.606T>C (p.Val202=) c.438T>C (p.Val146=) c.528T>C (p.Val176=) c.278T>C c.125T>C n.142T>C c.471T>C (p.Val157=) c.615T>C (p.Val205=) n.528T>C n.629T>C n.929T>C c.558T>C (p.Val186=) n.878T>C n.919T>C n.931T>C | |
15 | g.40411322T>G | CA489740159 | IVD | c.429T>G (p.Val143=) c.519T>G (p.Val173=) c.606T>G (p.Val202=) c.438T>G (p.Val146=) c.528T>G (p.Val176=) c.278T>G c.125T>G n.142T>G c.471T>G (p.Val157=) c.615T>G (p.Val205=) n.528T>G n.629T>G n.929T>G c.558T>G (p.Val186=) n.878T>G n.919T>G n.931T>G | |
15 | g.40411323G>A | CA391717180 | IVD | c.430G>A (p.Val144Ile) c.520G>A (p.Val174Ile) c.607G>A (p.Val203Ile) c.439G>A (p.Val147Ile) c.529G>A (p.Val177Ile) c.279G>A c.126G>A n.143G>A c.472G>A (p.Val158Ile) c.616G>A (p.Val206Ile) n.529G>A n.630G>A n.930G>A c.559G>A (p.Val187Ile) n.879G>A n.920G>A n.932G>A | |
15 | g.40411323G>C | CA391717177 | IVD | c.430G>C (p.Val144Leu) c.520G>C (p.Val174Leu) c.607G>C (p.Val203Leu) c.439G>C (p.Val147Leu) c.529G>C (p.Val177Leu) c.279G>C c.126G>C n.143G>C c.472G>C (p.Val158Leu) c.616G>C (p.Val206Leu) n.529G>C n.630G>C n.930G>C c.559G>C (p.Val187Leu) n.879G>C n.920G>C n.932G>C | |
15 | g.40411323G= | CA2171765821 | IVD | c.430G= (p.Val144=) c.520G= (p.Val174=) c.607G= (p.Val203=) c.439G= (p.Val147=) c.529G= (p.Val177=) c.279G= c.126G= n.143G= c.472G= (p.Val158=) c.616G= (p.Val206=) n.529G= n.630G= n.930G= c.559G= (p.Val187=) n.879G= n.920G= n.932G= | |
15 | g.40411323G>T | CA7480658 | IVD | c.430G>T (p.Val144Phe) c.520G>T (p.Val174Phe) c.607G>T (p.Val203Phe) c.439G>T (p.Val147Phe) c.529G>T (p.Val177Phe) c.279G>T c.126G>T n.143G>T c.472G>T (p.Val158Phe) c.616G>T (p.Val206Phe) n.529G>T n.630G>T n.930G>T c.559G>T (p.Val187Phe) n.879G>T n.920G>T n.932G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.40411324T>A | CA391717182 | IVD | c.431T>A (p.Val144Asp) c.521T>A (p.Val174Asp) c.608T>A (p.Val203Asp) c.440T>A (p.Val147Asp) c.530T>A (p.Val177Asp) c.280T>A c.127T>A n.144T>A c.473T>A (p.Val158Asp) c.617T>A (p.Val206Asp) n.530T>A n.631T>A n.931T>A c.560T>A (p.Val187Asp) n.880T>A n.921T>A n.933T>A | |
15 | g.40411324T>C | CA391717184 | IVD | c.431T>C (p.Val144Ala) c.521T>C (p.Val174Ala) c.608T>C (p.Val203Ala) c.440T>C (p.Val147Ala) c.530T>C (p.Val177Ala) c.280T>C c.127T>C n.144T>C c.473T>C (p.Val158Ala) c.617T>C (p.Val206Ala) n.530T>C n.631T>C n.931T>C c.560T>C (p.Val187Ala) n.880T>C n.921T>C n.933T>C | |
15 | g.40411324T>G | CA391717186 | IVD | c.431T>G (p.Val144Gly) c.521T>G (p.Val174Gly) c.608T>G (p.Val203Gly) c.440T>G (p.Val147Gly) c.530T>G (p.Val177Gly) c.280T>G c.127T>G n.144T>G c.473T>G (p.Val158Gly) c.617T>G (p.Val206Gly) n.530T>G n.631T>G n.931T>G c.560T>G (p.Val187Gly) n.880T>G n.921T>G n.933T>G | ClinVar dbSNP |
15 | g.40411324T= | CA2171765822 | IVD | c.431T= (p.Val144=) c.521T= (p.Val174=) c.608T= (p.Val203=) c.440T= (p.Val147=) c.530T= (p.Val177=) c.280T= c.127T= n.144T= c.473T= (p.Val158=) c.617T= (p.Val206=) n.530T= n.631T= n.931T= c.560T= (p.Val187=) n.880T= n.921T= n.933T= | |
15 | g.40411325C>A | CA489740171 | IVD | c.432C>A (p.Val144=) c.522C>A (p.Val174=) c.609C>A (p.Val203=) c.441C>A (p.Val147=) c.531C>A (p.Val177=) c.281C>A c.128C>A n.145C>A c.474C>A (p.Val158=) c.618C>A (p.Val206=) n.531C>A n.632C>A n.932C>A c.561C>A (p.Val187=) n.881C>A n.922C>A n.934C>A | |
15 | g.40411325C= | CA2171765823 | IVD | c.432C= (p.Val144=) c.522C= (p.Val174=) c.609C= (p.Val203=) c.441C= (p.Val147=) c.531C= (p.Val177=) c.281C= c.128C= n.145C= c.474C= (p.Val158=) c.618C= (p.Val206=) n.531C= n.632C= n.932C= c.561C= (p.Val187=) n.881C= n.922C= n.934C= | |
15 | g.40411325C>G | CA268780160 | IVD | c.432C>G (p.Val144=) c.522C>G (p.Val174=) c.609C>G (p.Val203=) c.441C>G (p.Val147=) c.531C>G (p.Val177=) c.281C>G c.128C>G n.145C>G c.474C>G (p.Val158=) c.618C>G (p.Val206=) n.531C>G n.632C>G n.932C>G c.561C>G (p.Val187=) n.881C>G n.922C>G n.934C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40411325C>T | CA489740172 | IVD | c.432C>T (p.Val144=) c.522C>T (p.Val174=) c.609C>T (p.Val203=) c.441C>T (p.Val147=) c.531C>T (p.Val177=) c.281C>T c.128C>T n.145C>T c.474C>T (p.Val158=) c.618C>T (p.Val206=) n.531C>T n.632C>T n.932C>T c.561C>T (p.Val187=) n.881C>T n.922C>T n.934C>T | |
15 | g.40411326T>A | CA391717187 | IVD | c.433T>A (p.Ser145Thr) c.523T>A (p.Ser175Thr) c.610T>A (p.Ser204Thr) c.442T>A (p.Ser148Thr) c.532T>A (p.Ser178Thr) c.282T>A c.129T>A n.146T>A c.475T>A (p.Ser159Thr) c.619T>A (p.Ser207Thr) n.532T>A n.633T>A n.933T>A c.562T>A (p.Ser188Thr) n.882T>A n.923T>A n.935T>A | |
15 | g.40411326T>C | CA391717189 | IVD | c.433T>C (p.Ser145Pro) c.523T>C (p.Ser175Pro) c.610T>C (p.Ser204Pro) c.442T>C (p.Ser148Pro) c.532T>C (p.Ser178Pro) c.282T>C c.129T>C n.146T>C c.475T>C (p.Ser159Pro) c.619T>C (p.Ser207Pro) n.532T>C n.633T>C n.933T>C c.562T>C (p.Ser188Pro) n.882T>C n.923T>C n.935T>C | |
15 | g.40411326T>G | CA391717191 | IVD | c.433T>G (p.Ser145Ala) c.523T>G (p.Ser175Ala) c.610T>G (p.Ser204Ala) c.442T>G (p.Ser148Ala) c.532T>G (p.Ser178Ala) c.282T>G c.129T>G n.146T>G c.475T>G (p.Ser159Ala) c.619T>G (p.Ser207Ala) n.532T>G n.633T>G n.933T>G c.562T>G (p.Ser188Ala) n.882T>G n.923T>G n.935T>G | |
15 | g.40411327C>A | CA391717193 | IVD | c.434C>A (p.Ser145Tyr) c.524C>A (p.Ser175Tyr) c.611C>A (p.Ser204Tyr) c.443C>A (p.Ser148Tyr) c.533C>A (p.Ser178Tyr) c.283C>A c.130C>A n.147C>A c.476C>A (p.Ser159Tyr) c.620C>A (p.Ser207Tyr) n.533C>A n.634C>A n.934C>A c.563C>A (p.Ser188Tyr) n.883C>A n.924C>A n.936C>A | |
15 | g.40411327C= | CA2171765824 | IVD | c.434C= (p.Ser145=) c.524C= (p.Ser175=) c.611C= (p.Ser204=) c.443C= (p.Ser148=) c.533C= (p.Ser178=) c.283C= c.130C= n.147C= c.476C= (p.Ser159=) c.620C= (p.Ser207=) n.533C= n.634C= n.934C= c.563C= (p.Ser188=) n.883C= n.924C= n.936C= | |
15 | g.40411327C>G | CA391717195 | IVD | c.434C>G (p.Ser145Cys) c.524C>G (p.Ser175Cys) c.611C>G (p.Ser204Cys) c.443C>G (p.Ser148Cys) c.533C>G (p.Ser178Cys) c.283C>G c.130C>G n.147C>G c.476C>G (p.Ser159Cys) c.620C>G (p.Ser207Cys) n.533C>G n.634C>G n.934C>G c.563C>G (p.Ser188Cys) n.883C>G n.924C>G n.936C>G | |
15 | g.40411327C>T | CA391717198 | IVD | c.434C>T (p.Ser145Phe) c.524C>T (p.Ser175Phe) c.611C>T (p.Ser204Phe) c.443C>T (p.Ser148Phe) c.533C>T (p.Ser178Phe) c.283C>T c.130C>T n.147C>T c.476C>T (p.Ser159Phe) c.620C>T (p.Ser207Phe) n.533C>T n.634C>T n.934C>T c.563C>T (p.Ser188Phe) n.883C>T n.924C>T n.936C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.40411328T>A | CA489740182 | IVD | c.435T>A (p.Ser145=) c.525T>A (p.Ser175=) c.612T>A (p.Ser204=) c.444T>A (p.Ser148=) c.534T>A (p.Ser178=) c.284T>A c.131T>A n.148T>A c.477T>A (p.Ser159=) c.621T>A (p.Ser207=) n.534T>A n.635T>A n.935T>A c.564T>A (p.Ser188=) n.884T>A n.925T>A n.937T>A | |
15 | g.40411328T>C | CA489740183 | IVD | c.435T>C (p.Ser145=) c.525T>C (p.Ser175=) c.612T>C (p.Ser204=) c.444T>C (p.Ser148=) c.534T>C (p.Ser178=) c.284T>C c.131T>C n.148T>C c.477T>C (p.Ser159=) c.621T>C (p.Ser207=) n.534T>C n.635T>C n.935T>C c.564T>C (p.Ser188=) n.884T>C n.925T>C n.937T>C | ClinVar gnomAD v4 |
15 | g.40411328T>G | CA489740185 | IVD | c.435T>G (p.Ser145=) c.525T>G (p.Ser175=) c.612T>G (p.Ser204=) c.444T>G (p.Ser148=) c.534T>G (p.Ser178=) c.284T>G c.131T>G n.148T>G c.477T>G (p.Ser159=) c.621T>G (p.Ser207=) n.534T>G n.635T>G n.935T>G c.564T>G (p.Ser188=) n.884T>G n.925T>G n.937T>G | |
15 | g.40411329A= | CA2171765825 | IVD | c.436A= (p.Met146=) c.526A= (p.Met176=) c.613A= (p.Met205=) c.445A= (p.Met149=) c.535A= (p.Met179=) c.285A= c.132A= n.149A= c.478A= (p.Met160=) c.622A= (p.Met208=) n.535A= n.636A= n.936A= c.565A= (p.Met189=) n.885A= n.926A= n.938A= | |
15 | g.40411329A>C | CA391717201 | IVD | c.436A>C (p.Met146Leu) c.526A>C (p.Met176Leu) c.613A>C (p.Met205Leu) c.445A>C (p.Met149Leu) c.535A>C (p.Met179Leu) c.285A>C c.132A>C n.149A>C c.478A>C (p.Met160Leu) c.622A>C (p.Met208Leu) n.535A>C n.636A>C n.936A>C c.565A>C (p.Met189Leu) n.885A>C n.926A>C n.938A>C | |
15 | g.40411329A>G | CA391717203 | IVD | c.436A>G (p.Met146Val) c.526A>G (p.Met176Val) c.613A>G (p.Met205Val) c.445A>G (p.Met149Val) c.535A>G (p.Met179Val) c.285A>G c.132A>G n.149A>G c.478A>G (p.Met160Val) c.622A>G (p.Met208Val) n.535A>G n.636A>G n.936A>G c.565A>G (p.Met189Val) n.885A>G n.926A>G n.938A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.40411329A>T | CA391717205 | IVD | c.436A>T (p.Met146Leu) c.526A>T (p.Met176Leu) c.613A>T (p.Met205Leu) c.445A>T (p.Met149Leu) c.535A>T (p.Met179Leu) c.285A>T c.132A>T n.149A>T c.478A>T (p.Met160Leu) c.622A>T (p.Met208Leu) n.535A>T n.636A>T n.936A>T c.565A>T (p.Met189Leu) n.885A>T n.926A>T n.938A>T | |
15 | g.40411330T>A | CA391717210 | IVD | c.437T>A (p.Met146Lys) c.527T>A (p.Met176Lys) c.614T>A (p.Met205Lys) c.446T>A (p.Met149Lys) c.536T>A (p.Met179Lys) c.286T>A c.133T>A n.150T>A c.479T>A (p.Met160Lys) c.623T>A (p.Met208Lys) n.536T>A n.637T>A n.937T>A c.566T>A (p.Met189Lys) n.886T>A n.927T>A n.939T>A | |
15 | g.40411330T>C | CA391717211 | IVD | c.437T>C (p.Met146Thr) c.527T>C (p.Met176Thr) c.614T>C (p.Met205Thr) c.446T>C (p.Met149Thr) c.536T>C (p.Met179Thr) c.286T>C c.133T>C n.150T>C c.479T>C (p.Met160Thr) c.623T>C (p.Met208Thr) n.536T>C n.637T>C n.937T>C c.566T>C (p.Met189Thr) n.886T>C n.927T>C n.939T>C | |
15 | g.40411330T>G | CA391717208 | IVD | c.437T>G (p.Met146Arg) c.527T>G (p.Met176Arg) c.614T>G (p.Met205Arg) c.446T>G (p.Met149Arg) c.536T>G (p.Met179Arg) c.286T>G c.133T>G n.150T>G c.479T>G (p.Met160Arg) c.623T>G (p.Met208Arg) n.536T>G n.637T>G n.937T>G c.566T>G (p.Met189Arg) n.886T>G n.927T>G n.939T>G | |
15 | g.40411331G>A | CA391717214 | IVD | c.438G>A (p.Met146Ile) c.528G>A (p.Met176Ile) c.615G>A (p.Met205Ile) c.447G>A (p.Met149Ile) c.537G>A (p.Met179Ile) c.287G>A c.134G>A n.151G>A c.480G>A (p.Met160Ile) c.624G>A (p.Met208Ile) n.537G>A n.638G>A n.938G>A c.567G>A (p.Met189Ile) n.887G>A n.928G>A n.940G>A | gnomAD v4 |
15 | g.40411331G>C | CA391717217 | IVD | c.438G>C (p.Met146Ile) c.528G>C (p.Met176Ile) c.615G>C (p.Met205Ile) c.447G>C (p.Met149Ile) c.537G>C (p.Met179Ile) c.287G>C c.134G>C n.151G>C c.480G>C (p.Met160Ile) c.624G>C (p.Met208Ile) n.537G>C n.638G>C n.938G>C c.567G>C (p.Met189Ile) n.887G>C n.928G>C n.940G>C | |
15 | g.40411331G>T | CA391717216 | IVD | c.438G>T (p.Met146Ile) c.528G>T (p.Met176Ile) c.615G>T (p.Met205Ile) c.447G>T (p.Met149Ile) c.537G>T (p.Met179Ile) c.287G>T c.134G>T n.151G>T c.480G>T (p.Met160Ile) c.624G>T (p.Met208Ile) n.537G>T n.638G>T n.938G>T c.567G>T (p.Met189Ile) n.887G>T n.928G>T n.940G>T | |
15 | g.40411332A>C | CA391717219 | IVD | c.439A>C (p.Lys147Gln) c.529A>C (p.Lys177Gln) c.616A>C (p.Lys206Gln) c.448A>C (p.Lys150Gln) c.538A>C (p.Lys180Gln) c.288A>C c.135A>C n.152A>C c.481A>C (p.Lys161Gln) c.625A>C (p.Lys209Gln) n.538A>C n.639A>C n.939A>C c.568A>C (p.Lys190Gln) n.888A>C n.929A>C n.941A>C | |
15 | g.40411332A>G | CA391717221 | IVD | c.439A>G (p.Lys147Glu) c.529A>G (p.Lys177Glu) c.616A>G (p.Lys206Glu) c.448A>G (p.Lys150Glu) c.538A>G (p.Lys180Glu) c.288A>G c.135A>G n.152A>G c.481A>G (p.Lys161Glu) c.625A>G (p.Lys209Glu) n.538A>G n.639A>G n.939A>G c.568A>G (p.Lys190Glu) n.888A>G n.929A>G n.941A>G | |
15 | g.40411332A>T | CA391717223 | IVD | c.439A>T (p.Lys147Ter) c.529A>T (p.Lys177Ter) c.616A>T (p.Lys206Ter) c.448A>T (p.Lys150Ter) c.538A>T (p.Lys180Ter) c.288A>T c.135A>T n.152A>T c.481A>T (p.Lys161Ter) c.625A>T (p.Lys209Ter) n.538A>T n.639A>T n.939A>T c.568A>T (p.Lys190Ter) n.888A>T n.929A>T n.941A>T | |
15 | g.40411333A>C | CA391717226 | IVD | c.440A>C (p.Lys147Thr) c.530A>C (p.Lys177Thr) c.617A>C (p.Lys206Thr) c.449A>C (p.Lys150Thr) c.539A>C (p.Lys180Thr) c.289A>C c.136A>C n.153A>C c.482A>C (p.Lys161Thr) c.626A>C (p.Lys209Thr) n.539A>C n.640A>C n.940A>C c.569A>C (p.Lys190Thr) n.889A>C n.930A>C n.942A>C | |
15 | g.40411333A>G | CA391717227 | IVD | c.440A>G (p.Lys147Arg) c.530A>G (p.Lys177Arg) c.617A>G (p.Lys206Arg) c.449A>G (p.Lys150Arg) c.539A>G (p.Lys180Arg) c.289A>G c.136A>G n.153A>G c.482A>G (p.Lys161Arg) c.626A>G (p.Lys209Arg) n.539A>G n.640A>G n.940A>G c.569A>G (p.Lys190Arg) n.889A>G n.930A>G n.942A>G | |
15 | g.40411333A>T | CA391717229 | IVD | c.440A>T (p.Lys147Met) c.530A>T (p.Lys177Met) c.617A>T (p.Lys206Met) c.449A>T (p.Lys150Met) c.539A>T (p.Lys180Met) c.289A>T c.136A>T n.153A>T c.482A>T (p.Lys161Met) c.626A>T (p.Lys209Met) n.539A>T n.640A>T n.940A>T c.569A>T (p.Lys190Met) n.889A>T n.930A>T n.942A>T | |
15 | g.40411334G>A | CA489740224 | IVD | c.441G>A (p.Lys147=) c.531G>A (p.Lys177=) c.618G>A (p.Lys206=) c.450G>A (p.Lys150=) c.540G>A (p.Lys180=) c.290G>A c.137G>A n.154G>A c.483G>A (p.Lys161=) c.627G>A (p.Lys209=) n.540G>A n.641G>A n.941G>A c.570G>A (p.Lys190=) n.890G>A n.931G>A n.943G>A | ClinVar dbSNP |
15 | g.40411334G>C | CA391717232 | IVD | c.441G>C (p.Lys147Asn) c.531G>C (p.Lys177Asn) c.618G>C (p.Lys206Asn) c.450G>C (p.Lys150Asn) c.540G>C (p.Lys180Asn) c.290G>C c.137G>C n.154G>C c.483G>C (p.Lys161Asn) c.627G>C (p.Lys209Asn) n.540G>C n.641G>C n.941G>C c.570G>C (p.Lys190Asn) n.890G>C n.931G>C n.943G>C | dbSNP |
15 | g.40411334G= | CA2171765826 | IVD | c.441G= (p.Lys147=) c.531G= (p.Lys177=) c.618G= (p.Lys206=) c.450G= (p.Lys150=) c.540G= (p.Lys180=) c.290G= c.137G= n.154G= c.483G= (p.Lys161=) c.627G= (p.Lys209=) n.540G= n.641G= n.941G= c.570G= (p.Lys190=) n.890G= n.931G= n.943G= | |
15 | g.40411334G>T | CA391717233 | IVD | c.441G>T (p.Lys147Asn) c.531G>T (p.Lys177Asn) c.618G>T (p.Lys206Asn) c.450G>T (p.Lys150Asn) c.540G>T (p.Lys180Asn) c.290G>T c.137G>T n.154G>T c.483G>T (p.Lys161Asn) c.627G>T (p.Lys209Asn) n.540G>T n.641G>T n.941G>T c.570G>T (p.Lys190Asn) n.890G>T n.931G>T n.943G>T | |
15 | g.40411335C>A | CA391717236 | IVD | c.442C>A (p.Leu148Ile) c.532C>A (p.Leu178Ile) c.619C>A (p.Leu207Ile) c.451C>A (p.Leu151Ile) c.541C>A (p.Leu181Ile) c.291C>A c.138C>A n.155C>A c.484C>A (p.Leu162Ile) c.628C>A (p.Leu210Ile) n.541C>A n.642C>A n.942C>A c.571C>A (p.Leu191Ile) n.891C>A n.932C>A n.944C>A | |
15 | g.40411335C>G | CA391717238 | IVD | c.442C>G (p.Leu148Val) c.532C>G (p.Leu178Val) c.619C>G (p.Leu207Val) c.451C>G (p.Leu151Val) c.541C>G (p.Leu181Val) c.291C>G c.138C>G n.155C>G c.484C>G (p.Leu162Val) c.628C>G (p.Leu210Val) n.541C>G n.642C>G n.942C>G c.571C>G (p.Leu191Val) n.891C>G n.932C>G n.944C>G | |
15 | g.40411335C>T | CA391717239 | IVD | c.442C>T (p.Leu148Phe) c.532C>T (p.Leu178Phe) c.619C>T (p.Leu207Phe) c.451C>T (p.Leu151Phe) c.541C>T (p.Leu181Phe) c.291C>T c.138C>T n.155C>T c.484C>T (p.Leu162Phe) c.628C>T (p.Leu210Phe) n.541C>T n.642C>T n.942C>T c.571C>T (p.Leu191Phe) n.891C>T n.932C>T n.944C>T | |
15 | g.40411336T>A | CA391717247 | IVD | c.443T>A (p.Leu148His) c.533T>A (p.Leu178His) c.620T>A (p.Leu207His) c.452T>A (p.Leu151His) c.542T>A (p.Leu181His) c.292T>A c.139T>A n.156T>A c.485T>A (p.Leu162His) c.629T>A (p.Leu210His) n.542T>A n.643T>A n.943T>A c.572T>A (p.Leu191His) n.892T>A n.933T>A n.945T>A | |
15 | g.40411336T>C | CA391717244 | IVD | c.443T>C (p.Leu148Pro) c.533T>C (p.Leu178Pro) c.620T>C (p.Leu207Pro) c.452T>C (p.Leu151Pro) c.542T>C (p.Leu181Pro) c.292T>C c.139T>C n.156T>C c.485T>C (p.Leu162Pro) c.629T>C (p.Leu210Pro) n.542T>C n.643T>C n.943T>C c.572T>C (p.Leu191Pro) n.892T>C n.933T>C n.945T>C | |
15 | g.40411336T>G | CA391717242 | IVD | c.443T>G (p.Leu148Arg) c.533T>G (p.Leu178Arg) c.620T>G (p.Leu207Arg) c.452T>G (p.Leu151Arg) c.542T>G (p.Leu181Arg) c.292T>G c.139T>G n.156T>G c.485T>G (p.Leu162Arg) c.629T>G (p.Leu210Arg) n.542T>G n.643T>G n.943T>G c.572T>G (p.Leu191Arg) n.892T>G n.933T>G n.945T>G |