| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.91014026_91015010delinsTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAACACAAAAAATTAGCCCGATCTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGACTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGCGGGGAAGCAGACATCCTCCACAAGTGCTACGGCCAACTCAAACAATTATTTTCTTATTAGAGGGTCCTTATGGCCAAGGCCCTTAGATTTTGCCCGCCCTTTCCCACAGTTACACATAGTACCATGGCACACTCACTGGCAATGTATCGCATATTCTTGATGCGGGGTCTGACCAAGAAGCACAATCTATGAGAGAGAAAGAAAAAAAAACAGTGAAGAAGAATTATCAAGTTGGATAGCAACTTAGAAGAAACTGAAACAATACCAACTCTTTTGCCATTTGCCCTACAGGTCTCATCCTAGCCAAAGCTATGCTATTCTCTTGGTCCACCATATACCAACCACAGAAGATACCTCTCAACACAATGGGTATAATGTGATGAGCTGGGTACATTACTGGCCCTATGGTGGACCCAAAAGTTCCTGTTCTCAAATAATTTACAATCCAGTGGGCAAAAAAAGATGCAGATATGGAGTATATTAACAATCAGTGCTGAAAAACAATATAAGAATACCCCATAAAAATATACAATTATTATCTGTCAGTTAAAAATAAAGGCTGGGCATGGTGGCTCACACCTGTAATCTTAACACTCCGGGAAGCCAAGGTGAGAAGATTGCTTGAGCTCAGGAGTTCGAAACTAGCCTCAGCAACACAGTGAGACCTCATCTCTATTAAAAATAATAATAGTGCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCA | CA2195404464 | VPS33B | c.240-577_290-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA c.159-577_209-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA n.163-577_213-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA n.634-577_684-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA n.444-577_494-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA c.178-577_228-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA c.-34-577_17-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA c.-122-577_-72-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA n.576-577_626-155delinsTGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACGCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGCACTATTATTATTTTTAATAGAGATGAGGTCTCACTGTGTTGCTGAGGCTAGTTTCGAACTCCTGAGCTCAAGCAATCTTCTCACCTTGGCTTCCCGGAGTGTTAAGATTACAGGTGTGAGCCACCATGCCCAGCCTTTATTTTTAACTGACAGATAATAATTGTATATTTTTATGGGGTATTCTTATATTGTTTTTCAGCACTGATTGTTAATATACTCCATATCTGCATCTTTTTTTGCCCACTGGATTGTAAATTATTTGAGAACAGGAACTTTTGGGTCCACCATAGGGCCAGTAATGTACCCAGCTCATCACATTATACCCATTGTGTTGAGAGGTATCTTCTGTGGTTGGTATATGGTGGACCAAGAGAATAGCATAGCTTTGGCTAGGATGAGACCTGTAGGGCAAATGGCAAAAGAGTTGGTATTGTTTCAGTTTCTTCTAAGTTGCTATCCAACTTGATAATTCTTCTTCACTGTTTTTTTTTCTTTCTCTCTCATAGATTGTGCTTCTTGGTCAGACCCCGCATCAAGAATATGCGATACATTGCCAGTGAGTGTGCCATGGTACTATGTGTAACTGTGGGAAAGGGCGGGCAAAATCTAAGGGCCTTGGCCATAAGGACCCTCTAATAAGAAAATAATTGTTTGAGTTGGCCGTAGCACTTGTGGAGGATGTCTGCTTCCCCGCTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGTCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCAGATCGGGCTAATTTTTTGTGTTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCA | |
| 15 | g.91014028_91015011del | CA145381 | VPS33B | c.240-577_290-156del c.159-577_209-156del n.163-577_213-156del n.634-577_684-156del n.444-577_494-156del c.178-577_228-156del c.-34-577_17-156del c.-122-577_-72-156del n.576-577_626-156del | ClinVar dbSNP |
| 15 | g.91014432del | CA16620033 | VPS33B | c.242del (p.Leu81CysfsTer?) c.161del (p.Leu54CysfsTer?) n.165del n.636del n.446del c.180del (p.Ile60MetfsTer?) c.-32del (n.-32del) c.-120del (n.-120del) n.578del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.91014432A>C | CA393860819 | VPS33B | c.241T>G (p.Leu81Val) c.160T>G (p.Leu54Val) n.164T>G n.635T>G n.445T>G c.179T>G (p.Ile60Ser) c.-33T>G (n.-33T>G) c.-121T>G (n.-121T>G) n.577T>G | |
| 15 | g.91014432A>G | CA492173219 | VPS33B | c.241T>C (p.Leu81=) c.160T>C (p.Leu54=) n.164T>C n.635T>C n.445T>C c.179T>C (p.Ile60Thr) c.-33T>C (n.-33T>C) c.-121T>C (n.-121T>C) n.577T>C | |
| 15 | g.91014432A>T | CA393860820 | VPS33B | c.241T>A (p.Leu81Met) c.160T>A (p.Leu54Met) n.164T>A n.635T>A n.445T>A c.179T>A (p.Ile60Asn) c.-33T>A (n.-33T>A) c.-121T>A (n.-121T>A) n.577T>A | |
| 15 | g.91014433T>A | CA393860821 | VPS33B | c.240A>T (p.Gln80His) c.159A>T (p.Gln53His) n.163A>T n.634A>T n.444A>T c.178A>T (p.Ile60Phe) c.-34A>T (n.-34A>T) c.-122A>T (n.-122A>T) n.576A>T | |
| 15 | g.91014433T>C | CA492173220 | VPS33B | c.240A>G (p.Gln80=) c.159A>G (p.Gln53=) n.163A>G n.634A>G n.444A>G c.178A>G (p.Ile60Val) c.-34A>G (n.-34A>G) c.-122A>G (n.-122A>G) n.576A>G | gnomAD v4 |
| 15 | g.91014433T>G | CA393860822 | VPS33B | c.240A>C (p.Gln80His) c.159A>C (p.Gln53His) n.163A>C n.634A>C n.444A>C c.178A>C (p.Ile60Leu) c.-34A>C (n.-34A>C) c.-122A>C (n.-122A>C) n.576A>C | |
| 15 | g.91014434C>A | CA393860823 | VPS33B | c.240-1G>T (n.240-1G>T) c.159-1G>T (n.159-1G>T) n.163-1G>T n.634-1G>T n.444-1G>T c.178-1G>T (n.178-1G>T) c.-34-1G>T (n.-34-1G>T) c.-122-1G>T (n.-122-1G>T) n.576-1G>T | gnomAD v4 |
| 15 | g.91014434C= | CA2195404685 | VPS33B | c.240-1G= (n.240-1G=) c.159-1G= (n.159-1G=) n.163-1G= n.634-1G= n.444-1G= c.178-1G= (n.178-1G=) c.-34-1G= (n.-34-1G=) c.-122-1G= (n.-122-1G=) n.576-1G= | |
| 15 | g.91014434C>G | CA393860824 | VPS33B | c.240-1G>C (n.240-1G>C) c.159-1G>C (n.159-1G>C) n.163-1G>C n.634-1G>C n.444-1G>C c.178-1G>C (n.178-1G>C) c.-34-1G>C (n.-34-1G>C) c.-122-1G>C (n.-122-1G>C) n.576-1G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014434C>T | CA393860825 | VPS33B | c.240-1G>A (n.240-1G>A) c.159-1G>A (n.159-1G>A) n.163-1G>A n.634-1G>A n.444-1G>A c.178-1G>A (n.178-1G>A) c.-34-1G>A (n.-34-1G>A) c.-122-1G>A (n.-122-1G>A) n.576-1G>A | |
| 15 | g.91014435T>A | CA393860826 | VPS33B | c.240-2A>T (n.240-2A>T) c.159-2A>T (n.159-2A>T) n.163-2A>T n.634-2A>T n.444-2A>T c.178-2A>T (n.178-2A>T) c.-34-2A>T (n.-34-2A>T) c.-122-2A>T (n.-122-2A>T) n.576-2A>T | |
| 15 | g.91014435T>C | CA393860827 | VPS33B | c.240-2A>G (n.240-2A>G) c.159-2A>G (n.159-2A>G) n.163-2A>G n.634-2A>G n.444-2A>G c.178-2A>G (n.178-2A>G) c.-34-2A>G (n.-34-2A>G) c.-122-2A>G (n.-122-2A>G) n.576-2A>G | |
| 15 | g.91014435T>G | CA393860828 | VPS33B | c.240-2A>C (n.240-2A>C) c.159-2A>C (n.159-2A>C) n.163-2A>C n.634-2A>C n.444-2A>C c.178-2A>C (n.178-2A>C) c.-34-2A>C (n.-34-2A>C) c.-122-2A>C (n.-122-2A>C) n.576-2A>C | |
| 15 | g.91014436A= | CA2195404686 | VPS33B | c.240-3T= (n.240-3T=) c.159-3T= (n.159-3T=) n.163-3T= n.634-3T= n.444-3T= c.178-3T= (n.178-3T=) c.-34-3T= (n.-34-3T=) c.-122-3T= (n.-122-3T=) n.576-3T= | |
| 15 | g.91014436A>G | CA7745143 | VPS33B | c.240-3T>C (n.240-3T>C) c.159-3T>C (n.159-3T>C) n.163-3T>C n.634-3T>C n.444-3T>C c.178-3T>C (n.178-3T>C) c.-34-3T>C (n.-34-3T>C) c.-122-3T>C (n.-122-3T>C) n.576-3T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91014437T>C | CA2630425591 | VPS33B | c.240-4A>G (n.240-4A>G) c.159-4A>G (n.159-4A>G) n.163-4A>G n.634-4A>G n.444-4A>G c.178-4A>G (n.178-4A>G) c.-34-4A>G (n.-34-4A>G) c.-122-4A>G (n.-122-4A>G) n.576-4A>G | gnomAD v4 |
| 15 | g.91014437_91014441delinsTGAGA | CA2195404687 | VPS33B | c.240-8_240-4delinsTCTCA (n.240-8_240-4delinsTCTCA) c.159-8_159-4delinsTCTCA (n.159-8_159-4delinsTCTCA) n.163-8_163-4delinsTCTCA n.634-8_634-4delinsTCTCA n.444-8_444-4delinsTCTCA c.178-8_178-4delinsTCTCA (n.178-8_178-4delinsTCTCA) c.-34-8_-34-4delinsTCTCA (n.-34-8_-34-4delinsTCTCA) c.-122-8_-122-4delinsTCTCA (n.-122-8_-122-4delinsTCTCA) n.576-8_576-4delinsTCTCA | |
| 15 | g.91014438G>A | CA7745146 | VPS33B | c.240-5C>T (n.240-5C>T) c.159-5C>T (n.159-5C>T) n.163-5C>T n.634-5C>T n.444-5C>T c.178-5C>T (n.178-5C>T) c.-34-5C>T (n.-34-5C>T) c.-122-5C>T (n.-122-5C>T) n.576-5C>T | dbSNP ExAC gnomAD v2 |
| 15 | g.91014438G= | CA2195404688 | VPS33B | c.240-5C= (n.240-5C=) c.159-5C= (n.159-5C=) n.163-5C= n.634-5C= n.444-5C= c.178-5C= (n.178-5C=) c.-34-5C= (n.-34-5C=) c.-122-5C= (n.-122-5C=) n.576-5C= | |
| 15 | g.91014438G>T | CA2575839289 | VPS33B | c.240-5C>A (n.240-5C>A) c.159-5C>A (n.159-5C>A) n.163-5C>A n.634-5C>A n.444-5C>A c.178-5C>A (n.178-5C>A) c.-34-5C>A (n.-34-5C>A) c.-122-5C>A (n.-122-5C>A) n.576-5C>A | gnomAD v4 |
| 15 | g.91014444_91014445del | CA7745144 | VPS33B | c.240-6_240-5del (n.240-6_240-5del) c.159-6_159-5del (n.159-6_159-5del) n.163-6_163-5del n.634-6_634-5del n.444-6_444-5del c.178-6_178-5del (n.178-6_178-5del) c.-34-6_-34-5del (n.-34-6_-34-5del) c.-122-6_-122-5del (n.-122-6_-122-5del) n.576-6_576-5del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91014442_91014445del | CA7745145 | VPS33B | c.240-8_240-5del (n.240-8_240-5del) c.159-8_159-5del (n.159-8_159-5del) n.163-8_163-5del n.634-8_634-5del n.444-8_444-5del c.178-8_178-5del (n.178-8_178-5del) c.-34-8_-34-5del (n.-34-8_-34-5del) c.-122-8_-122-5del (n.-122-8_-122-5del) n.576-8_576-5del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014440G>A | CA619587447 | VPS33B | c.240-7C>T (n.240-7C>T) c.159-7C>T (n.159-7C>T) n.163-7C>T n.634-7C>T n.444-7C>T c.178-7C>T (n.178-7C>T) c.-34-7C>T (n.-34-7C>T) c.-122-7C>T (n.-122-7C>T) n.576-7C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014440G= | CA2195404689 | VPS33B | c.240-7C= (n.240-7C=) c.159-7C= (n.159-7C=) n.163-7C= n.634-7C= n.444-7C= c.178-7C= (n.178-7C=) c.-34-7C= (n.-34-7C=) c.-122-7C= (n.-122-7C=) n.576-7C= | |
| 15 | g.91014442del | CA972743115 | VPS33B | c.240-9del (n.240-9del) c.159-9del (n.159-9del) n.163-9del n.634-9del n.444-9del c.178-9del (n.178-9del) c.-34-9del (n.-34-9del) c.-122-9del (n.-122-9del) n.576-9del | gnomAD v3 gnomAD v4 |
| 15 | g.91014442G>A | CA7745148 | VPS33B | c.240-9C>T (n.240-9C>T) c.159-9C>T (n.159-9C>T) n.163-9C>T n.634-9C>T n.444-9C>T c.178-9C>T (n.178-9C>T) c.-34-9C>T (n.-34-9C>T) c.-122-9C>T (n.-122-9C>T) n.576-9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014442G>C | CA7745147 | VPS33B | c.240-9C>G (n.240-9C>G) c.159-9C>G (n.159-9C>G) n.163-9C>G n.634-9C>G n.444-9C>G c.178-9C>G (n.178-9C>G) c.-34-9C>G (n.-34-9C>G) c.-122-9C>G (n.-122-9C>G) n.576-9C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014442G= | CA2195404690 | VPS33B | c.240-9C= (n.240-9C=) c.159-9C= (n.159-9C=) n.163-9C= n.634-9C= n.444-9C= c.178-9C= (n.178-9C=) c.-34-9C= (n.-34-9C=) c.-122-9C= (n.-122-9C=) n.576-9C= | |
| 15 | g.91014443A= | CA2195404691 | VPS33B | c.240-10T= (n.240-10T=) c.159-10T= (n.159-10T=) n.163-10T= n.634-10T= n.444-10T= c.178-10T= (n.178-10T=) c.-34-10T= (n.-34-10T=) c.-122-10T= (n.-122-10T=) n.576-10T= | |
| 15 | g.91014443A>G | CA7745149 | VPS33B | c.240-10T>C (n.240-10T>C) c.159-10T>C (n.159-10T>C) n.163-10T>C n.634-10T>C n.444-10T>C c.178-10T>C (n.178-10T>C) c.-34-10T>C (n.-34-10T>C) c.-122-10T>C (n.-122-10T>C) n.576-10T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.91014448_91014451del | CA2630425602 | VPS33B | c.240-13_240-10del (n.240-13_240-10del) c.159-13_159-10del (n.159-13_159-10del) n.163-13_163-10del n.634-13_634-10del n.444-13_444-10del c.178-13_178-10del (n.178-13_178-10del) c.-34-13_-34-10del (n.-34-13_-34-10del) c.-122-13_-122-10del (n.-122-13_-122-10del) n.576-13_576-10del | gnomAD v4 |
| 15 | g.91014444del | CA972743123 | VPS33B | c.240-11del (n.240-11del) c.159-11del (n.159-11del) n.163-11del n.634-11del n.444-11del c.178-11del (n.178-11del) c.-34-11del (n.-34-11del) c.-122-11del (n.-122-11del) n.576-11del | gnomAD v3 gnomAD v4 |
| 15 | g.91014444G>A | CA619587448 | VPS33B | c.240-11C>T (n.240-11C>T) c.159-11C>T (n.159-11C>T) n.163-11C>T n.634-11C>T n.444-11C>T c.178-11C>T (n.178-11C>T) c.-34-11C>T (n.-34-11C>T) c.-122-11C>T (n.-122-11C>T) n.576-11C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014444G= | CA2195404694 | VPS33B | c.240-11C= (n.240-11C=) c.159-11C= (n.159-11C=) n.163-11C= n.634-11C= n.444-11C= c.178-11C= (n.178-11C=) c.-34-11C= (n.-34-11C=) c.-122-11C= (n.-122-11C=) n.576-11C= | |
| 15 | g.91014444G>T | CA2630425609 | VPS33B | c.240-11C>A (n.240-11C>A) c.159-11C>A (n.159-11C>A) n.163-11C>A n.634-11C>A n.444-11C>A c.178-11C>A (n.178-11C>A) c.-34-11C>A (n.-34-11C>A) c.-122-11C>A (n.-122-11C>A) n.576-11C>A | gnomAD v4 |
| 15 | g.91014444_91014446delinsGAA | CA2195404692 | VPS33B | c.240-13_240-11delinsTTC (n.240-13_240-11delinsTTC) c.159-13_159-11delinsTTC (n.159-13_159-11delinsTTC) n.163-13_163-11delinsTTC n.634-13_634-11delinsTTC n.444-13_444-11delinsTTC c.178-13_178-11delinsTTC (n.178-13_178-11delinsTTC) c.-34-13_-34-11delinsTTC (n.-34-13_-34-11delinsTTC) c.-122-13_-122-11delinsTTC (n.-122-13_-122-11delinsTTC) n.576-13_576-11delinsTTC | |
| 15 | g.91014444_91014447delinsGAAA | CA2195404693 | VPS33B | c.240-14_240-11delinsTTTC (n.240-14_240-11delinsTTTC) c.159-14_159-11delinsTTTC (n.159-14_159-11delinsTTTC) n.163-14_163-11delinsTTTC n.634-14_634-11delinsTTTC n.444-14_444-11delinsTTTC c.178-14_178-11delinsTTTC (n.178-14_178-11delinsTTTC) c.-34-14_-34-11delinsTTTC (n.-34-14_-34-11delinsTTTC) c.-122-14_-122-11delinsTTTC (n.-122-14_-122-11delinsTTTC) n.576-14_576-11delinsTTTC | |
| 15 | g.91014445_91014447del | CA2195404695 | VPS33B | c.240-14_240-12del (n.240-14_240-12del) c.159-14_159-12del (n.159-14_159-12del) n.163-14_163-12del n.634-14_634-12del n.444-14_444-12del c.178-14_178-12del (n.178-14_178-12del) c.-34-14_-34-12del (n.-34-14_-34-12del) c.-122-14_-122-12del (n.-122-14_-122-12del) n.576-14_576-12del | dbSNP |
| 15 | g.91014446_91014447del | CA7745150 | VPS33B | c.240-13_240-12del (n.240-13_240-12del) c.159-13_159-12del (n.159-13_159-12del) n.163-13_163-12del n.634-13_634-12del n.444-13_444-12del c.178-13_178-12del (n.178-13_178-12del) c.-34-13_-34-12del (n.-34-13_-34-12del) c.-122-13_-122-12del (n.-122-13_-122-12del) n.576-13_576-12del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014446A= | CA2195404696 | VPS33B | c.240-13T= (n.240-13T=) c.159-13T= (n.159-13T=) n.163-13T= n.634-13T= n.444-13T= c.178-13T= (n.178-13T=) c.-34-13T= (n.-34-13T=) c.-122-13T= (n.-122-13T=) n.576-13T= | |
| 15 | g.91014446A>G | CA274758617 | VPS33B | c.240-13T>C (n.240-13T>C) c.159-13T>C (n.159-13T>C) n.163-13T>C n.634-13T>C n.444-13T>C c.178-13T>C (n.178-13T>C) c.-34-13T>C (n.-34-13T>C) c.-122-13T>C (n.-122-13T>C) n.576-13T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91014446A>T | CA2630425617 | VPS33B | c.240-13T>A (n.240-13T>A) c.159-13T>A (n.159-13T>A) n.163-13T>A n.634-13T>A n.444-13T>A c.178-13T>A (n.178-13T>A) c.-34-13T>A (n.-34-13T>A) c.-122-13T>A (n.-122-13T>A) n.576-13T>A | gnomAD v4 |
| 15 | g.91014446_91014448delinsAAG | CA2195404697 | VPS33B | c.240-15_240-13delinsCTT (n.240-15_240-13delinsCTT) c.159-15_159-13delinsCTT (n.159-15_159-13delinsCTT) n.163-15_163-13delinsCTT n.634-15_634-13delinsCTT n.444-15_444-13delinsCTT c.178-15_178-13delinsCTT (n.178-15_178-13delinsCTT) c.-34-15_-34-13delinsCTT (n.-34-15_-34-13delinsCTT) c.-122-15_-122-13delinsCTT (n.-122-15_-122-13delinsCTT) n.576-15_576-13delinsCTT | |
| 15 | g.91014448_91014450del | CA2630425616 | VPS33B | c.240-15_240-13del (n.240-15_240-13del) c.159-15_159-13del (n.159-15_159-13del) n.163-15_163-13del n.634-15_634-13del n.444-15_444-13del c.178-15_178-13del (n.178-15_178-13del) c.-34-15_-34-13del (n.-34-15_-34-13del) c.-122-15_-122-13del (n.-122-15_-122-13del) n.576-15_576-13del | gnomAD v4 |
| 15 | g.91014447A>G | CA2630425622 | VPS33B | c.240-14T>C (n.240-14T>C) c.159-14T>C (n.159-14T>C) n.163-14T>C n.634-14T>C n.444-14T>C c.178-14T>C (n.178-14T>C) c.-34-14T>C (n.-34-14T>C) c.-122-14T>C (n.-122-14T>C) n.576-14T>C | gnomAD v4 |
| 15 | g.91014447_91014448delinsAG | CA2195404698 | VPS33B | c.240-15_240-14delinsCT (n.240-15_240-14delinsCT) c.159-15_159-14delinsCT (n.159-15_159-14delinsCT) n.163-15_163-14delinsCT n.634-15_634-14delinsCT n.444-15_444-14delinsCT c.178-15_178-14delinsCT (n.178-15_178-14delinsCT) c.-34-15_-34-14delinsCT (n.-34-15_-34-14delinsCT) c.-122-15_-122-14delinsCT (n.-122-15_-122-14delinsCT) n.576-15_576-14delinsCT | |
| 15 | g.91014448_91014449del | CA717047898 | VPS33B | c.240-15_240-14del (n.240-15_240-14del) c.159-15_159-14del (n.159-15_159-14del) n.163-15_163-14del n.634-15_634-14del n.444-15_444-14del c.178-15_178-14del (n.178-15_178-14del) c.-34-15_-34-14del (n.-34-15_-34-14del) c.-122-15_-122-14del (n.-122-15_-122-14del) n.576-15_576-14del | dbSNP gnomAD v4 |