Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48905133_48906105delinsGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAA | CA2428428880 | SLC35A2 | c.426+287_776delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.354+287_355-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC (n.354+287_355-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC) c.426+287_427-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC (n.426+287_427-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC) c.211+287_338delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.510+287_860delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.465+287_815delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.424+287_424+1259delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.243+287_593delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.*320+287_*670delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC | |
X | g.48905137_48906108del | CA16616606 | SLC35A2 | c.426+287_775del c.354+287_355-242del (n.354+287_355-242del) c.426+287_427-242del (n.426+287_427-242del) c.211+287_337del c.510+287_859del c.465+287_814del c.424+287_424+1258del c.243+287_592del c.*320+287_*669del | ClinVar dbSNP |
X | g.48905396G>A | CA516360352 | SLC35A2 | c.513C>T (p.Ser171=) c.355-504C>T (n.355-504C>T) c.427-504C>T (n.427-504C>T) c.212-137C>T c.297C>T (p.Ser99=) c.597C>T (p.Ser199=) c.552C>T (p.Ser184=) c.474C>T (p.Ser158=) c.424+996C>T c.330C>T (p.Ser110=) c.*407C>T (n.*407C>T) | |
X | g.48905396G>C | CA516360353 | SLC35A2 | c.513C>G (p.Ser171=) c.355-504C>G (n.355-504C>G) c.427-504C>G (n.427-504C>G) c.212-137C>G c.297C>G (p.Ser99=) c.597C>G (p.Ser199=) c.552C>G (p.Ser184=) c.474C>G (p.Ser158=) c.424+996C>G c.330C>G (p.Ser110=) c.*407C>G (n.*407C>G) | |
X | g.48905396G>T | CA516360354 | SLC35A2 | c.513C>A (p.Ser171=) c.355-504C>A (n.355-504C>A) c.427-504C>A (n.427-504C>A) c.212-137C>A c.297C>A (p.Ser99=) c.597C>A (p.Ser199=) c.552C>A (p.Ser184=) c.474C>A (p.Ser158=) c.424+996C>A c.330C>A (p.Ser110=) c.*407C>A (n.*407C>A) | |
X | g.48905397G>A | CA412895805 | SLC35A2 | c.512C>T (p.Ser171Phe) c.355-505C>T (n.355-505C>T) c.427-505C>T (n.427-505C>T) c.212-138C>T c.296C>T (p.Ser99Phe) c.596C>T (p.Ser199Phe) c.551C>T (p.Ser184Phe) c.473C>T (p.Ser158Phe) c.424+995C>T c.329C>T (p.Ser110Phe) c.*406C>T (n.*406C>T) | |
X | g.48905397G>C | CA412895806 | SLC35A2 | c.512C>G (p.Ser171Cys) c.355-505C>G (n.355-505C>G) c.427-505C>G (n.427-505C>G) c.212-138C>G c.296C>G (p.Ser99Cys) c.596C>G (p.Ser199Cys) c.551C>G (p.Ser184Cys) c.473C>G (p.Ser158Cys) c.424+995C>G c.329C>G (p.Ser110Cys) c.*406C>G (n.*406C>G) | |
X | g.48905397G>T | CA412895807 | SLC35A2 | c.512C>A (p.Ser171Tyr) c.355-505C>A (n.355-505C>A) c.427-505C>A (n.427-505C>A) c.212-138C>A c.296C>A (p.Ser99Tyr) c.596C>A (p.Ser199Tyr) c.551C>A (p.Ser184Tyr) c.473C>A (p.Ser158Tyr) c.424+995C>A c.329C>A (p.Ser110Tyr) c.*406C>A (n.*406C>A) | |
X | g.48905398A>C | CA412895808 | SLC35A2 | c.511T>G (p.Ser171Ala) c.355-506T>G (n.355-506T>G) c.427-506T>G (n.427-506T>G) c.212-139T>G c.295T>G (p.Ser99Ala) c.595T>G (p.Ser199Ala) c.550T>G (p.Ser184Ala) c.*131T>G (n.*131T>G) c.472T>G (p.Ser158Ala) c.424+994T>G c.328T>G (p.Ser110Ala) c.*405T>G (n.*405T>G) | |
X | g.48905398A>G | CA412895809 | SLC35A2 | c.511T>C (p.Ser171Pro) c.355-506T>C (n.355-506T>C) c.427-506T>C (n.427-506T>C) c.212-139T>C c.295T>C (p.Ser99Pro) c.595T>C (p.Ser199Pro) c.550T>C (p.Ser184Pro) c.*131T>C (n.*131T>C) c.472T>C (p.Ser158Pro) c.424+994T>C c.328T>C (p.Ser110Pro) c.*405T>C (n.*405T>C) | gnomAD v4 |
X | g.48905398A>T | CA412895810 | SLC35A2 | c.511T>A (p.Ser171Thr) c.355-506T>A (n.355-506T>A) c.427-506T>A (n.427-506T>A) c.212-139T>A c.295T>A (p.Ser99Thr) c.595T>A (p.Ser199Thr) c.550T>A (p.Ser184Thr) c.*131T>A (n.*131T>A) c.472T>A (p.Ser158Thr) c.424+994T>A c.328T>A (p.Ser110Thr) c.*405T>A (n.*405T>A) | |
X | g.48905399G>A | CA516360358 | SLC35A2 | c.510C>T (p.Ala170=) c.355-507C>T (n.355-507C>T) c.427-507C>T (n.427-507C>T) c.212-140C>T c.294C>T (p.Ala98=) c.594C>T (p.Ala198=) c.549C>T (p.Ala183=) c.*130C>T (n.*130C>T) c.471C>T (p.Ala157=) c.424+993C>T c.327C>T (p.Ala109=) c.*404C>T (n.*404C>T) | |
X | g.48905399G>C | CA516360359 | SLC35A2 | c.510C>G (p.Ala170=) c.355-507C>G (n.355-507C>G) c.427-507C>G (n.427-507C>G) c.212-140C>G c.294C>G (p.Ala98=) c.594C>G (p.Ala198=) c.549C>G (p.Ala183=) c.*130C>G (n.*130C>G) c.471C>G (p.Ala157=) c.424+993C>G c.327C>G (p.Ala109=) c.*404C>G (n.*404C>G) | |
X | g.48905399G>T | CA516360360 | SLC35A2 | c.510C>A (p.Ala170=) c.355-507C>A (n.355-507C>A) c.427-507C>A (n.427-507C>A) c.212-140C>A c.294C>A (p.Ala98=) c.594C>A (p.Ala198=) c.549C>A (p.Ala183=) c.*130C>A (n.*130C>A) c.471C>A (p.Ala157=) c.424+993C>A c.327C>A (p.Ala109=) c.*404C>A (n.*404C>A) | |
X | g.48905399_48905409delinsGGCCCACTGCA | CA2428428963 | SLC35A2 | c.500_510delinsTGCAGTGGGCC (p.Leu167=) c.355-517_355-507delinsTGCAGTGGGCC (n.355-517_355-507delinsTGCAGTGGGCC) c.427-517_427-507delinsTGCAGTGGGCC (n.427-517_427-507delinsTGCAGTGGGCC) c.212-150_212-140delinsTGCAGTGGGCC c.284_294delinsTGCAGTGGGCC (p.Leu95=) c.584_594delinsTGCAGTGGGCC (p.Leu195=) c.539_549delinsTGCAGTGGGCC (p.Leu180=) c.*120_*130delinsTGCAGTGGGCC (n.*120_*130delinsTGCAGTGGGCC) c.461_471delinsTGCAGTGGGCC (p.Leu154=) c.424+983_424+993delinsTGCAGTGGGCC c.317_327delinsTGCAGTGGGCC (p.Leu106=) c.*394_*404delinsTGCAGTGGGCC (n.*394_*404delinsTGCAGTGGGCC) | |
X | g.48905400G>A | CA412895811 | SLC35A2 | c.509C>T (p.Ala170Val) c.355-508C>T (n.355-508C>T) c.427-508C>T (n.427-508C>T) c.212-141C>T c.293C>T (p.Ala98Val) c.593C>T (p.Ala198Val) c.548C>T (p.Ala183Val) c.*129C>T (n.*129C>T) c.470C>T (p.Ala157Val) c.424+992C>T c.326C>T (p.Ala109Val) c.*403C>T (n.*403C>T) | |
X | g.48905400G>C | CA412895812 | SLC35A2 | c.509C>G (p.Ala170Gly) c.355-508C>G (n.355-508C>G) c.427-508C>G (n.427-508C>G) c.212-141C>G c.293C>G (p.Ala98Gly) c.593C>G (p.Ala198Gly) c.548C>G (p.Ala183Gly) c.*129C>G (n.*129C>G) c.470C>G (p.Ala157Gly) c.424+992C>G c.326C>G (p.Ala109Gly) c.*403C>G (n.*403C>G) | |
X | g.48905400G>T | CA412895813 | SLC35A2 | c.509C>A (p.Ala170Asp) c.355-508C>A (n.355-508C>A) c.427-508C>A (n.427-508C>A) c.212-141C>A c.293C>A (p.Ala98Asp) c.593C>A (p.Ala198Asp) c.548C>A (p.Ala183Asp) c.*129C>A (n.*129C>A) c.470C>A (p.Ala157Asp) c.424+992C>A c.326C>A (p.Ala109Asp) c.*403C>A (n.*403C>A) | |
X | g.48905403_48905412del | CA16043639 | SLC35A2 | c.500_509del (p.Leu167ProfsTer?) c.355-517_355-508del (n.355-517_355-508del) c.427-517_427-508del (n.427-517_427-508del) c.212-150_212-141del c.284_293del (p.Leu95ProfsTer?) c.584_593del (p.Leu195ProfsTer?) c.539_548del (p.Leu180ProfsTer?) c.*120_*129del (n.*120_*129del) c.461_470del (p.Leu154ProfsTer?) c.424+983_424+992del c.317_326del (p.Leu106ProfsTer?) c.*394_*403del (n.*394_*403del) | ClinVar dbSNP |
X | g.48905401C>A | CA412895816 | SLC35A2 | c.508G>T (p.Ala170Ser) c.355-509G>T (n.355-509G>T) c.427-509G>T (n.427-509G>T) c.212-142G>T c.292G>T (p.Ala98Ser) c.592G>T (p.Ala198Ser) c.547G>T (p.Ala183Ser) c.*128G>T (n.*128G>T) c.469G>T (p.Ala157Ser) c.424+991G>T c.325G>T (p.Ala109Ser) c.*402G>T (n.*402G>T) | gnomAD v4 |
X | g.48905401C>G | CA412895814 | SLC35A2 | c.508G>C (p.Ala170Pro) c.355-509G>C (n.355-509G>C) c.427-509G>C (n.427-509G>C) c.212-142G>C c.292G>C (p.Ala98Pro) c.592G>C (p.Ala198Pro) c.547G>C (p.Ala183Pro) c.*128G>C (n.*128G>C) c.469G>C (p.Ala157Pro) c.424+991G>C c.325G>C (p.Ala109Pro) c.*402G>C (n.*402G>C) | |
X | g.48905401C>T | CA412895815 | SLC35A2 | c.508G>A (p.Ala170Thr) c.355-509G>A (n.355-509G>A) c.427-509G>A (n.427-509G>A) c.212-142G>A c.292G>A (p.Ala98Thr) c.592G>A (p.Ala198Thr) c.547G>A (p.Ala183Thr) c.*128G>A (n.*128G>A) c.469G>A (p.Ala157Thr) c.424+991G>A c.325G>A (p.Ala109Thr) c.*402G>A (n.*402G>A) | gnomAD v4 |
X | g.48905403del | CA2693659612 | SLC35A2 | c.508del (p.Ala170ProfsTer?) c.355-509del (n.355-509del) c.427-509del (n.427-509del) c.212-142del c.292del (p.Ala98ProfsTer?) c.592del (p.Ala198ProfsTer?) c.547del (p.Ala183ProfsTer?) c.*128del (n.*128del) c.469del (p.Ala157ProfsTer?) c.424+991del c.325del (p.Ala109ProfsTer?) c.*402del (n.*402del) | gnomAD v4 |
X | g.48905402C>A | CA412895817 | SLC35A2 | c.507G>T (p.Trp169Cys) c.355-510G>T (n.355-510G>T) c.427-510G>T (n.427-510G>T) c.212-143G>T c.291G>T (p.Trp97Cys) c.591G>T (p.Trp197Cys) c.546G>T (p.Trp182Cys) c.*127G>T (n.*127G>T) c.468G>T (p.Trp156Cys) c.424+990G>T c.324G>T (p.Trp108Cys) c.*401G>T (n.*401G>T) | gnomAD v4 |
X | g.48905402C>G | CA412895818 | SLC35A2 | c.507G>C (p.Trp169Cys) c.355-510G>C (n.355-510G>C) c.427-510G>C (n.427-510G>C) c.212-143G>C c.291G>C (p.Trp97Cys) c.591G>C (p.Trp197Cys) c.546G>C (p.Trp182Cys) c.*127G>C (n.*127G>C) c.468G>C (p.Trp156Cys) c.424+990G>C c.324G>C (p.Trp108Cys) c.*401G>C (n.*401G>C) | |
X | g.48905402C>T | CA412895819 | SLC35A2 | c.507G>A (p.Trp169Ter) c.355-510G>A (n.355-510G>A) c.427-510G>A (n.427-510G>A) c.212-143G>A c.291G>A (p.Trp97Ter) c.591G>A (p.Trp197Ter) c.546G>A (p.Trp182Ter) c.*127G>A (n.*127G>A) c.468G>A (p.Trp156Ter) c.424+990G>A c.324G>A (p.Trp108Ter) c.*401G>A (n.*401G>A) | |
X | g.48905403C>A | CA412895820 | SLC35A2 | c.506G>T (p.Trp169Leu) c.355-511G>T (n.355-511G>T) c.427-511G>T (n.427-511G>T) c.212-144G>T c.290G>T (p.Trp97Leu) c.590G>T (p.Trp197Leu) c.545G>T (p.Trp182Leu) c.*126G>T (n.*126G>T) c.467G>T (p.Trp156Leu) c.424+989G>T c.323G>T (p.Trp108Leu) c.*400G>T (n.*400G>T) | |
X | g.48905403C>G | CA412895821 | SLC35A2 | c.506G>C (p.Trp169Ser) c.355-511G>C (n.355-511G>C) c.427-511G>C (n.427-511G>C) c.212-144G>C c.290G>C (p.Trp97Ser) c.590G>C (p.Trp197Ser) c.545G>C (p.Trp182Ser) c.*126G>C (n.*126G>C) c.467G>C (p.Trp156Ser) c.424+989G>C c.323G>C (p.Trp108Ser) c.*400G>C (n.*400G>C) | |
X | g.48905403C>T | CA412895822 | SLC35A2 | c.506G>A (p.Trp169Ter) c.355-511G>A (n.355-511G>A) c.427-511G>A (n.427-511G>A) c.212-144G>A c.290G>A (p.Trp97Ter) c.590G>A (p.Trp197Ter) c.545G>A (p.Trp182Ter) c.*126G>A (n.*126G>A) c.467G>A (p.Trp156Ter) c.424+989G>A c.323G>A (p.Trp108Ter) c.*400G>A (n.*400G>A) | |
X | g.48905404A>C | CA412895823 | SLC35A2 | c.505T>G (p.Trp169Gly) c.355-512T>G (n.355-512T>G) c.427-512T>G (n.427-512T>G) c.212-145T>G c.289T>G (p.Trp97Gly) c.589T>G (p.Trp197Gly) c.544T>G (p.Trp182Gly) c.*125T>G (n.*125T>G) c.466T>G (p.Trp156Gly) c.424+988T>G c.322T>G (p.Trp108Gly) c.*399T>G (n.*399T>G) | |
X | g.48905404A>G | CA412895824 | SLC35A2 | c.505T>C (p.Trp169Arg) c.355-512T>C (n.355-512T>C) c.427-512T>C (n.427-512T>C) c.212-145T>C c.289T>C (p.Trp97Arg) c.589T>C (p.Trp197Arg) c.544T>C (p.Trp182Arg) c.*125T>C (n.*125T>C) c.466T>C (p.Trp156Arg) c.424+988T>C c.322T>C (p.Trp108Arg) c.*399T>C (n.*399T>C) | COSMIC |
X | g.48905404A>T | CA412895825 | SLC35A2 | c.505T>A (p.Trp169Arg) c.355-512T>A (n.355-512T>A) c.427-512T>A (n.427-512T>A) c.212-145T>A c.289T>A (p.Trp97Arg) c.589T>A (p.Trp197Arg) c.544T>A (p.Trp182Arg) c.*125T>A (n.*125T>A) c.466T>A (p.Trp156Arg) c.424+988T>A c.322T>A (p.Trp108Arg) c.*399T>A (n.*399T>A) | |
X | g.48905405C>A | CA412895826 | SLC35A2 | c.504G>T (p.Gln168His) c.355-513G>T (n.355-513G>T) c.427-513G>T (n.427-513G>T) c.212-146G>T c.288G>T (p.Gln96His) c.588G>T (p.Gln196His) c.543G>T (p.Gln181His) c.*124G>T (n.*124G>T) c.465G>T (p.Gln155His) c.424+987G>T c.321G>T (p.Gln107His) c.*398G>T (n.*398G>T) | gnomAD v4 |
X | g.48905405C= | CA2428428964 | SLC35A2 | c.504G= (p.Gln168=) c.355-513G= (n.355-513G=) c.427-513G= (n.427-513G=) c.212-146G= c.288G= (p.Gln96=) c.588G= (p.Gln196=) c.543G= (p.Gln181=) c.*124G= (n.*124G=) c.465G= (p.Gln155=) c.424+987G= c.321G= (p.Gln107=) c.*398G= (n.*398G=) | |
X | g.48905405C>G | CA412895827 | SLC35A2 | c.504G>C (p.Gln168His) c.355-513G>C (n.355-513G>C) c.427-513G>C (n.427-513G>C) c.212-146G>C c.288G>C (p.Gln96His) c.588G>C (p.Gln196His) c.543G>C (p.Gln181His) c.*124G>C (n.*124G>C) c.465G>C (p.Gln155His) c.424+987G>C c.321G>C (p.Gln107His) c.*398G>C (n.*398G>C) | |
X | g.48905405C>T | CA516360369 | SLC35A2 | c.504G>A (p.Gln168=) c.355-513G>A (n.355-513G>A) c.427-513G>A (n.427-513G>A) c.212-146G>A c.288G>A (p.Gln96=) c.588G>A (p.Gln196=) c.543G>A (p.Gln181=) c.*124G>A (n.*124G>A) c.465G>A (p.Gln155=) c.424+987G>A c.321G>A (p.Gln107=) c.*398G>A (n.*398G>A) | dbSNP |
X | g.48905406T>A | CA412895830 | SLC35A2 | c.503A>T (p.Gln168Leu) c.355-514A>T (n.355-514A>T) c.427-514A>T (n.427-514A>T) c.212-147A>T c.287A>T (p.Gln96Leu) c.587A>T (p.Gln196Leu) c.542A>T (p.Gln181Leu) c.*123A>T (n.*123A>T) c.464A>T (p.Gln155Leu) c.424+986A>T c.320A>T (p.Gln107Leu) c.*397A>T (n.*397A>T) | |
X | g.48905406T>C | CA412895829 | SLC35A2 | c.503A>G (p.Gln168Arg) c.355-514A>G (n.355-514A>G) c.427-514A>G (n.427-514A>G) c.212-147A>G c.287A>G (p.Gln96Arg) c.587A>G (p.Gln196Arg) c.542A>G (p.Gln181Arg) c.*123A>G (n.*123A>G) c.464A>G (p.Gln155Arg) c.424+986A>G c.320A>G (p.Gln107Arg) c.*397A>G (n.*397A>G) | gnomAD v4 |
X | g.48905406T>G | CA412895828 | SLC35A2 | c.503A>C (p.Gln168Pro) c.355-514A>C (n.355-514A>C) c.427-514A>C (n.427-514A>C) c.212-147A>C c.287A>C (p.Gln96Pro) c.587A>C (p.Gln196Pro) c.542A>C (p.Gln181Pro) c.*123A>C (n.*123A>C) c.464A>C (p.Gln155Pro) c.424+986A>C c.320A>C (p.Gln107Pro) c.*397A>C (n.*397A>C) | |
X | g.48905407G>A | CA412895831 | SLC35A2 | c.502C>T (p.Gln168Ter) c.355-515C>T (n.355-515C>T) c.427-515C>T (n.427-515C>T) c.212-148C>T c.286C>T (p.Gln96Ter) c.586C>T (p.Gln196Ter) c.541C>T (p.Gln181Ter) c.*122C>T (n.*122C>T) c.463C>T (p.Gln155Ter) c.424+985C>T c.319C>T (p.Gln107Ter) c.*396C>T (n.*396C>T) | |
X | g.48905407G>C | CA412895832 | SLC35A2 | c.502C>G (p.Gln168Glu) c.355-515C>G (n.355-515C>G) c.427-515C>G (n.427-515C>G) c.212-148C>G c.286C>G (p.Gln96Glu) c.586C>G (p.Gln196Glu) c.541C>G (p.Gln181Glu) c.*122C>G (n.*122C>G) c.463C>G (p.Gln155Glu) c.424+985C>G c.319C>G (p.Gln107Glu) c.*396C>G (n.*396C>G) | |
X | g.48905407G>T | CA412895833 | SLC35A2 | c.502C>A (p.Gln168Lys) c.355-515C>A (n.355-515C>A) c.427-515C>A (n.427-515C>A) c.212-148C>A c.286C>A (p.Gln96Lys) c.586C>A (p.Gln196Lys) c.541C>A (p.Gln181Lys) c.*122C>A (n.*122C>A) c.463C>A (p.Gln155Lys) c.424+985C>A c.319C>A (p.Gln107Lys) c.*396C>A (n.*396C>A) | |
X | g.48905408C>A | CA516360373 | SLC35A2 | c.501G>T (p.Leu167=) c.355-516G>T (n.355-516G>T) c.427-516G>T (n.427-516G>T) c.212-149G>T c.285G>T (p.Leu95=) c.585G>T (p.Leu195=) c.540G>T (p.Leu180=) c.*121G>T (n.*121G>T) c.462G>T (p.Leu154=) c.424+984G>T c.318G>T (p.Leu106=) c.*395G>T (n.*395G>T) | gnomAD v4 |
X | g.48905408C>G | CA516360374 | SLC35A2 | c.501G>C (p.Leu167=) c.355-516G>C (n.355-516G>C) c.427-516G>C (n.427-516G>C) c.212-149G>C c.285G>C (p.Leu95=) c.585G>C (p.Leu195=) c.540G>C (p.Leu180=) c.*121G>C (n.*121G>C) c.462G>C (p.Leu154=) c.424+984G>C c.318G>C (p.Leu106=) c.*395G>C (n.*395G>C) | |
X | g.48905408C>T | CA516360375 | SLC35A2 | c.501G>A (p.Leu167=) c.355-516G>A (n.355-516G>A) c.427-516G>A (n.427-516G>A) c.212-149G>A c.285G>A (p.Leu95=) c.585G>A (p.Leu195=) c.540G>A (p.Leu180=) c.*121G>A (n.*121G>A) c.462G>A (p.Leu154=) c.424+984G>A c.318G>A (p.Leu106=) c.*395G>A (n.*395G>A) | |
X | g.48905408_48905412dup | CA2695233842 | SLC35A2 | c.497_501dup (p.Gln168GlyfsTer?) c.355-520_355-516dup (n.355-520_355-516dup) c.427-520_427-516dup (n.427-520_427-516dup) c.212-153_212-149dup c.281_285dup (p.Gln96GlyfsTer?) c.581_585dup (p.Gln196GlyfsTer?) c.536_540dup (p.Gln181GlyfsTer?) c.*117_*121dup (n.*117_*121dup) c.458_462dup (p.Gln155GlyfsTer?) c.424+980_424+984dup c.314_318dup (p.Gln107GlyfsTer?) c.*391_*395dup (n.*391_*395dup) | |
X | g.48905409A>C | CA412895834 | SLC35A2 | c.500T>G (p.Leu167Arg) c.355-517T>G (n.355-517T>G) c.427-517T>G (n.427-517T>G) c.212-150T>G c.284T>G (p.Leu95Arg) c.584T>G (p.Leu195Arg) c.539T>G (p.Leu180Arg) c.*120T>G (n.*120T>G) c.461T>G (p.Leu154Arg) c.424+983T>G c.317T>G (p.Leu106Arg) c.*394T>G (n.*394T>G) | |
X | g.48905409A>G | CA412895835 | SLC35A2 | c.500T>C (p.Leu167Pro) c.355-517T>C (n.355-517T>C) c.427-517T>C (n.427-517T>C) c.212-150T>C c.284T>C (p.Leu95Pro) c.584T>C (p.Leu195Pro) c.539T>C (p.Leu180Pro) c.*120T>C (n.*120T>C) c.461T>C (p.Leu154Pro) c.424+983T>C c.317T>C (p.Leu106Pro) c.*394T>C (n.*394T>C) | gnomAD v4 COSMIC COSMIC |
X | g.48905409A>T | CA412895836 | SLC35A2 | c.500T>A (p.Leu167Gln) c.355-517T>A (n.355-517T>A) c.427-517T>A (n.427-517T>A) c.212-150T>A c.284T>A (p.Leu95Gln) c.584T>A (p.Leu195Gln) c.539T>A (p.Leu180Gln) c.*120T>A (n.*120T>A) c.461T>A (p.Leu154Gln) c.424+983T>A c.317T>A (p.Leu106Gln) c.*394T>A (n.*394T>A) | |
X | g.48905410G>A | CA516360378 | SLC35A2 | c.499C>T (p.Leu167=) c.355-518C>T (n.355-518C>T) c.427-518C>T (n.427-518C>T) c.212-151C>T c.283C>T (p.Leu95=) c.583C>T (p.Leu195=) c.538C>T (p.Leu180=) c.*119C>T (n.*119C>T) c.460C>T (p.Leu154=) c.424+982C>T c.316C>T (p.Leu106=) c.*393C>T (n.*393C>T) | gnomAD v4 |
X | g.48905410G>C | CA412895837 | SLC35A2 | c.499C>G (p.Leu167Val) c.355-518C>G (n.355-518C>G) c.427-518C>G (n.427-518C>G) c.212-151C>G c.283C>G (p.Leu95Val) c.583C>G (p.Leu195Val) c.538C>G (p.Leu180Val) c.*119C>G (n.*119C>G) c.460C>G (p.Leu154Val) c.424+982C>G c.316C>G (p.Leu106Val) c.*393C>G (n.*393C>G) | |
X | g.48905410G>T | CA412895838 | SLC35A2 | c.499C>A (p.Leu167Met) c.355-518C>A (n.355-518C>A) c.427-518C>A (n.427-518C>A) c.212-151C>A c.283C>A (p.Leu95Met) c.583C>A (p.Leu195Met) c.538C>A (p.Leu180Met) c.*119C>A (n.*119C>A) c.460C>A (p.Leu154Met) c.424+982C>A c.316C>A (p.Leu106Met) c.*393C>A (n.*393C>A) | gnomAD v4 |
X | g.48905411C>A | CA516360379 | SLC35A2 | c.498G>T (p.Arg166=) c.355-519G>T (n.355-519G>T) c.427-519G>T (n.427-519G>T) c.212-152G>T c.282G>T (p.Arg94=) c.582G>T (p.Arg194=) c.537G>T (p.Arg179=) c.*118G>T (n.*118G>T) c.459G>T (p.Arg153=) c.424+981G>T c.315G>T (p.Arg105=) c.*392G>T (n.*392G>T) | gnomAD v4 |
X | g.48905411C= | CA2428428965 | SLC35A2 | c.498G= (p.Arg166=) c.355-519G= (n.355-519G=) c.427-519G= (n.427-519G=) c.212-152G= c.282G= (p.Arg94=) c.582G= (p.Arg194=) c.537G= (p.Arg179=) c.*118G= (n.*118G=) c.459G= (p.Arg153=) c.424+981G= c.315G= (p.Arg105=) c.*392G= (n.*392G=) | |
X | g.48905411C>G | CA516360380 | SLC35A2 | c.498G>C (p.Arg166=) c.355-519G>C (n.355-519G>C) c.427-519G>C (n.427-519G>C) c.212-152G>C c.282G>C (p.Arg94=) c.582G>C (p.Arg194=) c.537G>C (p.Arg179=) c.*118G>C (n.*118G>C) c.459G>C (p.Arg153=) c.424+981G>C c.315G>C (p.Arg105=) c.*392G>C (n.*392G>C) | gnomAD v4 |
X | g.48905411C>T | CA516360381 | SLC35A2 | c.498G>A (p.Arg166=) c.355-519G>A (n.355-519G>A) c.427-519G>A (n.427-519G>A) c.212-152G>A c.282G>A (p.Arg94=) c.582G>A (p.Arg194=) c.537G>A (p.Arg179=) c.*118G>A (n.*118G>A) c.459G>A (p.Arg153=) c.424+981G>A c.315G>A (p.Arg105=) c.*392G>A (n.*392G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905412C>A | CA412895839 | SLC35A2 | c.497G>T (p.Arg166Leu) c.355-520G>T (n.355-520G>T) c.427-520G>T (n.427-520G>T) c.212-153G>T c.281G>T (p.Arg94Leu) c.581G>T (p.Arg194Leu) c.536G>T (p.Arg179Leu) c.*117G>T (n.*117G>T) c.458G>T (p.Arg153Leu) c.424+980G>T c.314G>T (p.Arg105Leu) c.*391G>T (n.*391G>T) | gnomAD v4 |
X | g.48905412C= | CA2428428966 | SLC35A2 | c.497G= (p.Arg166=) c.355-520G= (n.355-520G=) c.427-520G= (n.427-520G=) c.212-153G= c.281G= (p.Arg94=) c.581G= (p.Arg194=) c.536G= (p.Arg179=) c.*117G= (n.*117G=) c.458G= (p.Arg153=) c.424+980G= c.314G= (p.Arg105=) c.*391G= (n.*391G=) | |
X | g.48905412C>G | CA412895840 | SLC35A2 | c.497G>C (p.Arg166Pro) c.355-520G>C (n.355-520G>C) c.427-520G>C (n.427-520G>C) c.212-153G>C c.281G>C (p.Arg94Pro) c.581G>C (p.Arg194Pro) c.536G>C (p.Arg179Pro) c.*117G>C (n.*117G>C) c.458G>C (p.Arg153Pro) c.424+980G>C c.314G>C (p.Arg105Pro) c.*391G>C (n.*391G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48905412C>T | CA10406122 | SLC35A2 | c.497G>A (p.Arg166Gln) c.355-520G>A (n.355-520G>A) c.427-520G>A (n.427-520G>A) c.212-153G>A c.281G>A (p.Arg94Gln) c.581G>A (p.Arg194Gln) c.536G>A (p.Arg179Gln) c.*117G>A (n.*117G>A) c.458G>A (p.Arg153Gln) c.424+980G>A c.314G>A (p.Arg105Gln) c.*391G>A (n.*391G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905412_48905413insTTTCCCGGCTGCAGT | CA2511440137 | SLC35A2 | c.496_497insACTGCAGCCGGGAAA (p.Ser165_Arg166insHisCysSerArgGlu) c.355-521_355-520insACTGCAGCCGGGAAA (n.355-521_355-520insACTGCAGCCGGGAAA) c.427-521_427-520insACTGCAGCCGGGAAA (n.427-521_427-520insACTGCAGCCGGGAAA) c.212-154_212-153insACTGCAGCCGGGAAA c.280_281insACTGCAGCCGGGAAA (p.Ser93_Arg94insHisCysSerArgGlu) c.580_581insACTGCAGCCGGGAAA (p.Ser193_Arg194insHisCysSerArgGlu) c.535_536insACTGCAGCCGGGAAA (p.Ser178_Arg179insHisCysSerArgGlu) c.*116_*117insACTGCAGCCGGGAAA (n.*116_*117insACTGCAGCCGGGAAA) c.457_458insACTGCAGCCGGGAAA (p.Ser152_Arg153insHisCysSerArgGlu) c.424+979_424+980insACTGCAGCCGGGAAA c.313_314insACTGCAGCCGGGAAA (p.Ser104_Arg105insHisCysSerArgGlu) c.*390_*391insACTGCAGCCGGGAAA (n.*390_*391insACTGCAGCCGGGAAA) | |
X | g.48905413G>A | CA10406123 | SLC35A2 | c.496C>T (p.Arg166Trp) c.355-521C>T (n.355-521C>T) c.427-521C>T (n.427-521C>T) c.212-154C>T c.280C>T (p.Arg94Trp) c.580C>T (p.Arg194Trp) c.535C>T (p.Arg179Trp) c.*116C>T (n.*116C>T) c.457C>T (p.Arg153Trp) c.424+979C>T c.313C>T (p.Arg105Trp) c.*390C>T (n.*390C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905413G>C | CA412895841 | SLC35A2 | c.496C>G (p.Arg166Gly) c.355-521C>G (n.355-521C>G) c.427-521C>G (n.427-521C>G) c.212-154C>G c.280C>G (p.Arg94Gly) c.580C>G (p.Arg194Gly) c.535C>G (p.Arg179Gly) c.*116C>G (n.*116C>G) c.457C>G (p.Arg153Gly) c.424+979C>G c.313C>G (p.Arg105Gly) c.*390C>G (n.*390C>G) | |
X | g.48905413G= | CA2428428967 | SLC35A2 | c.496C= (p.Arg166=) c.355-521C= (n.355-521C=) c.427-521C= (n.427-521C=) c.212-154C= c.280C= (p.Arg94=) c.580C= (p.Arg194=) c.535C= (p.Arg179=) c.*116C= (n.*116C=) c.457C= (p.Arg153=) c.424+979C= c.313C= (p.Arg105=) c.*390C= (n.*390C=) | |
X | g.48905413G>T | CA516360382 | SLC35A2 | c.496C>A (p.Arg166=) c.355-521C>A (n.355-521C>A) c.427-521C>A (n.427-521C>A) c.212-154C>A c.280C>A (p.Arg94=) c.580C>A (p.Arg194=) c.535C>A (p.Arg179=) c.*116C>A (n.*116C>A) c.457C>A (p.Arg153=) c.424+979C>A c.313C>A (p.Arg105=) c.*390C>A (n.*390C>A) | |
X | g.48905414G>A | CA516360383 | SLC35A2 | c.495C>T (p.Ser165=) c.355-522C>T (n.355-522C>T) c.427-522C>T (n.427-522C>T) c.212-155C>T c.279C>T (p.Ser93=) c.579C>T (p.Ser193=) c.534C>T (p.Ser178=) c.*115C>T (n.*115C>T) c.456C>T (p.Ser152=) c.424+978C>T c.312C>T (p.Ser104=) c.*389C>T (n.*389C>T) | gnomAD v4 |
X | g.48905414G>C | CA516360384 | SLC35A2 | c.495C>G (p.Ser165=) c.355-522C>G (n.355-522C>G) c.427-522C>G (n.427-522C>G) c.212-155C>G c.279C>G (p.Ser93=) c.579C>G (p.Ser193=) c.534C>G (p.Ser178=) c.*115C>G (n.*115C>G) c.456C>G (p.Ser152=) c.424+978C>G c.312C>G (p.Ser104=) c.*389C>G (n.*389C>G) | |
X | g.48905414G>T | CA516360386 | SLC35A2 | c.495C>A (p.Ser165=) c.355-522C>A (n.355-522C>A) c.427-522C>A (n.427-522C>A) c.212-155C>A c.279C>A (p.Ser93=) c.579C>A (p.Ser193=) c.534C>A (p.Ser178=) c.*115C>A (n.*115C>A) c.456C>A (p.Ser152=) c.424+978C>A c.312C>A (p.Ser104=) c.*389C>A (n.*389C>A) | dbSNP |
X | g.48905415G>A | CA412895844 | SLC35A2 | c.494C>T (p.Ser165Phe) c.355-523C>T (n.355-523C>T) c.427-523C>T (n.427-523C>T) c.212-156C>T c.278C>T (p.Ser93Phe) c.578C>T (p.Ser193Phe) c.533C>T (p.Ser178Phe) c.*114C>T (n.*114C>T) c.455C>T (p.Ser152Phe) c.424+977C>T c.311C>T (p.Ser104Phe) c.*388C>T (n.*388C>T) | gnomAD v4 |
X | g.48905415G>C | CA412895842 | SLC35A2 | c.494C>G (p.Ser165Cys) c.355-523C>G (n.355-523C>G) c.427-523C>G (n.427-523C>G) c.212-156C>G c.278C>G (p.Ser93Cys) c.578C>G (p.Ser193Cys) c.533C>G (p.Ser178Cys) c.*114C>G (n.*114C>G) c.455C>G (p.Ser152Cys) c.424+977C>G c.311C>G (p.Ser104Cys) c.*388C>G (n.*388C>G) | |
X | g.48905415G>T | CA412895843 | SLC35A2 | c.494C>A (p.Ser165Tyr) c.355-523C>A (n.355-523C>A) c.427-523C>A (n.427-523C>A) c.212-156C>A c.278C>A (p.Ser93Tyr) c.578C>A (p.Ser193Tyr) c.533C>A (p.Ser178Tyr) c.*114C>A (n.*114C>A) c.455C>A (p.Ser152Tyr) c.424+977C>A c.311C>A (p.Ser104Tyr) c.*388C>A (n.*388C>A) | gnomAD v4 |
X | g.48905416A>C | CA412895845 | SLC35A2 | c.493T>G (p.Ser165Ala) c.355-524T>G (n.355-524T>G) c.427-524T>G (n.427-524T>G) c.212-157T>G c.277T>G (p.Ser93Ala) c.577T>G (p.Ser193Ala) c.532T>G (p.Ser178Ala) c.*113T>G (n.*113T>G) c.454T>G (p.Ser152Ala) c.424+976T>G c.310T>G (p.Ser104Ala) c.*387T>G (n.*387T>G) | |
X | g.48905416A>G | CA412895846 | SLC35A2 | c.493T>C (p.Ser165Pro) c.355-524T>C (n.355-524T>C) c.427-524T>C (n.427-524T>C) c.212-157T>C c.277T>C (p.Ser93Pro) c.577T>C (p.Ser193Pro) c.532T>C (p.Ser178Pro) c.*113T>C (n.*113T>C) c.454T>C (p.Ser152Pro) c.424+976T>C c.310T>C (p.Ser104Pro) c.*387T>C (n.*387T>C) | gnomAD v4 |
X | g.48905416A>T | CA412895847 | SLC35A2 | c.493T>A (p.Ser165Thr) c.355-524T>A (n.355-524T>A) c.427-524T>A (n.427-524T>A) c.212-157T>A c.277T>A (p.Ser93Thr) c.577T>A (p.Ser193Thr) c.532T>A (p.Ser178Thr) c.*113T>A (n.*113T>A) c.454T>A (p.Ser152Thr) c.424+976T>A c.310T>A (p.Ser104Thr) c.*387T>A (n.*387T>A) | |
X | g.48905417A>C | CA516360387 | SLC35A2 | c.492T>G (p.Leu164=) c.355-525T>G (n.355-525T>G) c.427-525T>G (n.427-525T>G) c.212-158T>G c.276T>G (p.Leu92=) c.576T>G (p.Leu192=) c.531T>G (p.Leu177=) c.*112T>G (n.*112T>G) c.453T>G (p.Leu151=) c.424+975T>G c.309T>G (p.Leu103=) c.*386T>G (n.*386T>G) | |
X | g.48905417A>G | CA516360388 | SLC35A2 | c.492T>C (p.Leu164=) c.355-525T>C (n.355-525T>C) c.427-525T>C (n.427-525T>C) c.212-158T>C c.276T>C (p.Leu92=) c.576T>C (p.Leu192=) c.531T>C (p.Leu177=) c.*112T>C (n.*112T>C) c.453T>C (p.Leu151=) c.424+975T>C c.309T>C (p.Leu103=) c.*386T>C (n.*386T>C) | |
X | g.48905417A>T | CA516360389 | SLC35A2 | c.492T>A (p.Leu164=) c.355-525T>A (n.355-525T>A) c.427-525T>A (n.427-525T>A) c.212-158T>A c.276T>A (p.Leu92=) c.576T>A (p.Leu192=) c.531T>A (p.Leu177=) c.*112T>A (n.*112T>A) c.453T>A (p.Leu151=) c.424+975T>A c.309T>A (p.Leu103=) c.*386T>A (n.*386T>A) | |
X | g.48905418A>C | CA412895848 | SLC35A2 | c.491T>G (p.Leu164Arg) c.355-526T>G (n.355-526T>G) c.427-526T>G (n.427-526T>G) c.212-159T>G c.275T>G (p.Leu92Arg) c.575T>G (p.Leu192Arg) c.530T>G (p.Leu177Arg) c.*111T>G (n.*111T>G) c.452T>G (p.Leu151Arg) c.424+974T>G c.308T>G (p.Leu103Arg) c.*385T>G (n.*385T>G) | |
X | g.48905418A>G | CA412895849 | SLC35A2 | c.491T>C (p.Leu164Pro) c.355-526T>C (n.355-526T>C) c.427-526T>C (n.427-526T>C) c.212-159T>C c.275T>C (p.Leu92Pro) c.575T>C (p.Leu192Pro) c.530T>C (p.Leu177Pro) c.*111T>C (n.*111T>C) c.452T>C (p.Leu151Pro) c.424+974T>C c.308T>C (p.Leu103Pro) c.*385T>C (n.*385T>C) | gnomAD v4 |
X | g.48905418A>T | CA412895850 | SLC35A2 | c.491T>A (p.Leu164His) c.355-526T>A (n.355-526T>A) c.427-526T>A (n.427-526T>A) c.212-159T>A c.275T>A (p.Leu92His) c.575T>A (p.Leu192His) c.530T>A (p.Leu177His) c.*111T>A (n.*111T>A) c.452T>A (p.Leu151His) c.424+974T>A c.308T>A (p.Leu103His) c.*385T>A (n.*385T>A) | |
X | g.48905419G>A | CA412895851 | SLC35A2 | c.490C>T (p.Leu164Phe) c.355-527C>T (n.355-527C>T) c.427-527C>T (n.427-527C>T) c.212-160C>T c.274C>T (p.Leu92Phe) c.574C>T (p.Leu192Phe) c.529C>T (p.Leu177Phe) c.*110C>T (n.*110C>T) c.451C>T (p.Leu151Phe) c.424+973C>T c.307C>T (p.Leu103Phe) c.*384C>T (n.*384C>T) | |
X | g.48905419G>C | CA412895852 | SLC35A2 | c.490C>G (p.Leu164Val) c.355-527C>G (n.355-527C>G) c.427-527C>G (n.427-527C>G) c.212-160C>G c.274C>G (p.Leu92Val) c.574C>G (p.Leu192Val) c.529C>G (p.Leu177Val) c.*110C>G (n.*110C>G) c.451C>G (p.Leu151Val) c.424+973C>G c.307C>G (p.Leu103Val) c.*384C>G (n.*384C>G) | |
X | g.48905419G>T | CA412895853 | SLC35A2 | c.490C>A (p.Leu164Ile) c.355-527C>A (n.355-527C>A) c.427-527C>A (n.427-527C>A) c.212-160C>A c.274C>A (p.Leu92Ile) c.574C>A (p.Leu192Ile) c.529C>A (p.Leu177Ile) c.*110C>A (n.*110C>A) c.451C>A (p.Leu151Ile) c.424+973C>A c.307C>A (p.Leu103Ile) c.*384C>A (n.*384C>A) | gnomAD v4 |
X | g.48905420G>A | CA516360392 | SLC35A2 | c.489C>T (p.Ser163=) c.355-528C>T (n.355-528C>T) c.427-528C>T (n.427-528C>T) c.212-161C>T c.273C>T (p.Ser91=) c.573C>T (p.Ser191=) c.528C>T (p.Ser176=) c.*109C>T (n.*109C>T) c.450C>T (p.Ser150=) c.424+972C>T c.306C>T (p.Ser102=) c.*383C>T (n.*383C>T) | gnomAD v4 |
X | g.48905420G>C | CA412895854 | SLC35A2 | c.489C>G (p.Ser163Arg) c.355-528C>G (n.355-528C>G) c.427-528C>G (n.427-528C>G) c.212-161C>G c.273C>G (p.Ser91Arg) c.573C>G (p.Ser191Arg) c.528C>G (p.Ser176Arg) c.*109C>G (n.*109C>G) c.450C>G (p.Ser150Arg) c.424+972C>G c.306C>G (p.Ser102Arg) c.*383C>G (n.*383C>G) | |
X | g.48905420G>T | CA412895855 | SLC35A2 | c.489C>A (p.Ser163Arg) c.355-528C>A (n.355-528C>A) c.427-528C>A (n.427-528C>A) c.212-161C>A c.273C>A (p.Ser91Arg) c.573C>A (p.Ser191Arg) c.528C>A (p.Ser176Arg) c.*109C>A (n.*109C>A) c.450C>A (p.Ser150Arg) c.424+972C>A c.306C>A (p.Ser102Arg) c.*383C>A (n.*383C>A) | gnomAD v4 |
X | g.48905421C>A | CA412895856 | SLC35A2 | c.488G>T (p.Ser163Ile) c.355-529G>T (n.355-529G>T) c.427-529G>T (n.427-529G>T) c.212-162G>T c.272G>T (p.Ser91Ile) c.572G>T (p.Ser191Ile) c.527G>T (p.Ser176Ile) c.*108G>T (n.*108G>T) c.449G>T (p.Ser150Ile) c.424+971G>T c.305G>T (p.Ser102Ile) c.*382G>T (n.*382G>T) | gnomAD v4 |
X | g.48905421C>G | CA412895858 | SLC35A2 | c.488G>C (p.Ser163Thr) c.355-529G>C (n.355-529G>C) c.427-529G>C (n.427-529G>C) c.212-162G>C c.272G>C (p.Ser91Thr) c.572G>C (p.Ser191Thr) c.527G>C (p.Ser176Thr) c.*108G>C (n.*108G>C) c.449G>C (p.Ser150Thr) c.424+971G>C c.305G>C (p.Ser102Thr) c.*382G>C (n.*382G>C) | |
X | g.48905421C>T | CA412895857 | SLC35A2 | c.488G>A (p.Ser163Asn) c.355-529G>A (n.355-529G>A) c.427-529G>A (n.427-529G>A) c.212-162G>A c.272G>A (p.Ser91Asn) c.572G>A (p.Ser191Asn) c.527G>A (p.Ser176Asn) c.*108G>A (n.*108G>A) c.449G>A (p.Ser150Asn) c.424+971G>A c.305G>A (p.Ser102Asn) c.*382G>A (n.*382G>A) | |
X | g.48905422T>A | CA412895859 | SLC35A2 | c.487A>T (p.Ser163Cys) c.355-530A>T (n.355-530A>T) c.427-530A>T (n.427-530A>T) c.212-163A>T c.271A>T (p.Ser91Cys) c.571A>T (p.Ser191Cys) c.526A>T (p.Ser176Cys) c.*107A>T (n.*107A>T) c.448A>T (p.Ser150Cys) c.424+970A>T c.304A>T (p.Ser102Cys) c.*381A>T (n.*381A>T) | |
X | g.48905422T>C | CA412895861 | SLC35A2 | c.487A>G (p.Ser163Gly) c.355-530A>G (n.355-530A>G) c.427-530A>G (n.427-530A>G) c.212-163A>G c.271A>G (p.Ser91Gly) c.571A>G (p.Ser191Gly) c.526A>G (p.Ser176Gly) c.*107A>G (n.*107A>G) c.448A>G (p.Ser150Gly) c.424+970A>G c.304A>G (p.Ser102Gly) c.*381A>G (n.*381A>G) | gnomAD v4 |
X | g.48905422T>G | CA412895860 | SLC35A2 | c.487A>C (p.Ser163Arg) c.355-530A>C (n.355-530A>C) c.427-530A>C (n.427-530A>C) c.212-163A>C c.271A>C (p.Ser91Arg) c.571A>C (p.Ser191Arg) c.526A>C (p.Ser176Arg) c.*107A>C (n.*107A>C) c.448A>C (p.Ser150Arg) c.424+970A>C c.304A>C (p.Ser102Arg) c.*381A>C (n.*381A>C) | |
X | g.48905423G>A | CA516360021 | SLC35A2 | c.486C>T (p.Arg162=) c.355-531C>T (n.355-531C>T) c.427-531C>T (n.427-531C>T) c.212-164C>T c.270C>T (p.Arg90=) c.570C>T (p.Arg190=) c.525C>T (p.Arg175=) c.*106C>T (n.*106C>T) c.447C>T (p.Arg149=) c.424+969C>T c.303C>T (p.Arg101=) c.*380C>T (n.*380C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48905423G>C | CA516360020 | SLC35A2 | c.486C>G (p.Arg162=) c.355-531C>G (n.355-531C>G) c.427-531C>G (n.427-531C>G) c.212-164C>G c.270C>G (p.Arg90=) c.570C>G (p.Arg190=) c.525C>G (p.Arg175=) c.*106C>G (n.*106C>G) c.447C>G (p.Arg149=) c.424+969C>G c.303C>G (p.Arg101=) c.*380C>G (n.*380C>G) | |
X | g.48905423G= | CA2428428968 | SLC35A2 | c.486C= (p.Arg162=) c.355-531C= (n.355-531C=) c.427-531C= (n.427-531C=) c.212-164C= c.270C= (p.Arg90=) c.570C= (p.Arg190=) c.525C= (p.Arg175=) c.*106C= (n.*106C=) c.447C= (p.Arg149=) c.424+969C= c.303C= (p.Arg101=) c.*380C= (n.*380C=) | |
X | g.48905423G>T | CA516360017 | SLC35A2 | c.486C>A (p.Arg162=) c.355-531C>A (n.355-531C>A) c.427-531C>A (n.427-531C>A) c.212-164C>A c.270C>A (p.Arg90=) c.570C>A (p.Arg190=) c.525C>A (p.Arg175=) c.*106C>A (n.*106C>A) c.447C>A (p.Arg149=) c.424+969C>A c.303C>A (p.Arg101=) c.*380C>A (n.*380C>A) | |
X | g.48905424C>A | CA412895863 | SLC35A2 | c.485G>T (p.Arg162Leu) c.355-532G>T (n.355-532G>T) c.427-532G>T (n.427-532G>T) c.212-165G>T c.269G>T (p.Arg90Leu) c.569G>T (p.Arg190Leu) c.524G>T (p.Arg175Leu) c.*105G>T (n.*105G>T) c.446G>T (p.Arg149Leu) c.424+968G>T c.302G>T (p.Arg101Leu) c.*379G>T (n.*379G>T) | gnomAD v4 |
X | g.48905424C= | CA2428428969 | SLC35A2 | c.485G= (p.Arg162=) c.355-532G= (n.355-532G=) c.427-532G= (n.427-532G=) c.212-165G= c.269G= (p.Arg90=) c.569G= (p.Arg190=) c.524G= (p.Arg175=) c.*105G= (n.*105G=) c.446G= (p.Arg149=) c.424+968G= c.302G= (p.Arg101=) c.*379G= (n.*379G=) | |
X | g.48905424C>G | CA412895864 | SLC35A2 | c.485G>C (p.Arg162Pro) c.355-532G>C (n.355-532G>C) c.427-532G>C (n.427-532G>C) c.212-165G>C c.269G>C (p.Arg90Pro) c.569G>C (p.Arg190Pro) c.524G>C (p.Arg175Pro) c.*105G>C (n.*105G>C) c.446G>C (p.Arg149Pro) c.424+968G>C c.302G>C (p.Arg101Pro) c.*379G>C (n.*379G>C) | |
X | g.48905424C>T | CA10406124 | SLC35A2 | c.485G>A (p.Arg162His) c.355-532G>A (n.355-532G>A) c.427-532G>A (n.427-532G>A) c.212-165G>A c.269G>A (p.Arg90His) c.569G>A (p.Arg190His) c.524G>A (p.Arg175His) c.*105G>A (n.*105G>A) c.446G>A (p.Arg149His) c.424+968G>A c.302G>A (p.Arg101His) c.*379G>A (n.*379G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48905425G>A | CA412895865 | SLC35A2 | c.484C>T (p.Arg162Cys) c.355-533C>T (n.355-533C>T) c.427-533C>T (n.427-533C>T) c.212-166C>T c.268C>T (p.Arg90Cys) c.568C>T (p.Arg190Cys) c.523C>T (p.Arg175Cys) c.*104C>T (n.*104C>T) c.445C>T (p.Arg149Cys) c.424+967C>T c.301C>T (p.Arg101Cys) c.*378C>T (n.*378C>T) | ClinVar gnomAD v4 |
X | g.48905425G>C | CA412895867 | SLC35A2 | c.484C>G (p.Arg162Gly) c.355-533C>G (n.355-533C>G) c.427-533C>G (n.427-533C>G) c.212-166C>G c.268C>G (p.Arg90Gly) c.568C>G (p.Arg190Gly) c.523C>G (p.Arg175Gly) c.*104C>G (n.*104C>G) c.445C>G (p.Arg149Gly) c.424+967C>G c.301C>G (p.Arg101Gly) c.*378C>G (n.*378C>G) | |
X | g.48905425G>T | CA412895866 | SLC35A2 | c.484C>A (p.Arg162Ser) c.355-533C>A (n.355-533C>A) c.427-533C>A (n.427-533C>A) c.212-166C>A c.268C>A (p.Arg90Ser) c.568C>A (p.Arg190Ser) c.523C>A (p.Arg175Ser) c.*104C>A (n.*104C>A) c.445C>A (p.Arg149Ser) c.424+967C>A c.301C>A (p.Arg101Ser) c.*378C>A (n.*378C>A) | ClinVar dbSNP |
X | g.48905426A>C | CA412895868 | SLC35A2 | c.483T>G (p.Asn161Lys) c.355-534T>G (n.355-534T>G) c.427-534T>G (n.427-534T>G) c.212-167T>G c.267T>G (p.Asn89Lys) c.567T>G (p.Asn189Lys) c.522T>G (p.Asn174Lys) c.*103T>G (n.*103T>G) c.444T>G (p.Asn148Lys) c.424+966T>G c.300T>G (p.Asn100Lys) c.*377T>G (n.*377T>G) | |
X | g.48905426A>G | CA516360029 | SLC35A2 | c.483T>C (p.Asn161=) c.355-534T>C (n.355-534T>C) c.427-534T>C (n.427-534T>C) c.212-167T>C c.267T>C (p.Asn89=) c.567T>C (p.Asn189=) c.522T>C (p.Asn174=) c.*103T>C (n.*103T>C) c.444T>C (p.Asn148=) c.424+966T>C c.300T>C (p.Asn100=) c.*377T>C (n.*377T>C) | |
X | g.48905426A>T | CA412895869 | SLC35A2 | c.483T>A (p.Asn161Lys) c.355-534T>A (n.355-534T>A) c.427-534T>A (n.427-534T>A) c.212-167T>A c.267T>A (p.Asn89Lys) c.567T>A (p.Asn189Lys) c.522T>A (p.Asn174Lys) c.*103T>A (n.*103T>A) c.444T>A (p.Asn148Lys) c.424+966T>A c.300T>A (p.Asn100Lys) c.*377T>A (n.*377T>A) | |
X | g.48905427T>A | CA412895870 | SLC35A2 | c.482A>T (p.Asn161Ile) c.355-535A>T (n.355-535A>T) c.427-535A>T (n.427-535A>T) c.212-168A>T c.266A>T (p.Asn89Ile) c.566A>T (p.Asn189Ile) c.521A>T (p.Asn174Ile) c.*102A>T (n.*102A>T) c.443A>T (p.Asn148Ile) c.424+965A>T c.299A>T (p.Asn100Ile) c.*376A>T (n.*376A>T) | |
X | g.48905427T>C | CA412895871 | SLC35A2 | c.482A>G (p.Asn161Ser) c.355-535A>G (n.355-535A>G) c.427-535A>G (n.427-535A>G) c.212-168A>G c.266A>G (p.Asn89Ser) c.566A>G (p.Asn189Ser) c.521A>G (p.Asn174Ser) c.*102A>G (n.*102A>G) c.443A>G (p.Asn148Ser) c.424+965A>G c.299A>G (p.Asn100Ser) c.*376A>G (n.*376A>G) | gnomAD v4 |
X | g.48905427T>G | CA412895872 | SLC35A2 | c.482A>C (p.Asn161Thr) c.355-535A>C (n.355-535A>C) c.427-535A>C (n.427-535A>C) c.212-168A>C c.266A>C (p.Asn89Thr) c.566A>C (p.Asn189Thr) c.521A>C (p.Asn174Thr) c.*102A>C (n.*102A>C) c.443A>C (p.Asn148Thr) c.424+965A>C c.299A>C (p.Asn100Thr) c.*376A>C (n.*376A>C) | |
X | g.48905428T>A | CA412895873 | SLC35A2 | c.481A>T (p.Asn161Tyr) c.355-536A>T (n.355-536A>T) c.427-536A>T (n.427-536A>T) c.212-169A>T c.265A>T (p.Asn89Tyr) c.565A>T (p.Asn189Tyr) c.520A>T (p.Asn174Tyr) c.*101A>T (n.*101A>T) c.442A>T (p.Asn148Tyr) c.424+964A>T c.298A>T (p.Asn100Tyr) c.*375A>T (n.*375A>T) | |
X | g.48905428T>C | CA329099030 | SLC35A2 | c.481A>G (p.Asn161Asp) c.355-536A>G (n.355-536A>G) c.427-536A>G (n.427-536A>G) c.212-169A>G c.265A>G (p.Asn89Asp) c.565A>G (p.Asn189Asp) c.520A>G (p.Asn174Asp) c.*101A>G (n.*101A>G) c.442A>G (p.Asn148Asp) c.424+964A>G c.298A>G (p.Asn100Asp) c.*375A>G (n.*375A>G) | dbSNP |
X | g.48905428T>G | CA412895874 | SLC35A2 | c.481A>C (p.Asn161His) c.355-536A>C (n.355-536A>C) c.427-536A>C (n.427-536A>C) c.212-169A>C c.265A>C (p.Asn89His) c.565A>C (p.Asn189His) c.520A>C (p.Asn174His) c.*101A>C (n.*101A>C) c.442A>C (p.Asn148His) c.424+964A>C c.298A>C (p.Asn100His) c.*375A>C (n.*375A>C) | |
X | g.48905428T= | CA2428428970 | SLC35A2 | c.481A= (p.Asn161=) c.355-536A= (n.355-536A=) c.427-536A= (n.427-536A=) c.212-169A= c.265A= (p.Asn89=) c.565A= (p.Asn189=) c.520A= (p.Asn174=) c.*101A= (n.*101A=) c.442A= (p.Asn148=) c.424+964A= c.298A= (p.Asn100=) c.*375A= (n.*375A=) | |
X | g.48905429C>A | CA516360038 | SLC35A2 | c.480G>T (p.Leu160=) c.355-537G>T (n.355-537G>T) c.427-537G>T (n.427-537G>T) c.212-170G>T c.264G>T (p.Leu88=) c.564G>T (p.Leu188=) c.519G>T (p.Leu173=) c.*100G>T (n.*100G>T) c.441G>T (p.Leu147=) c.424+963G>T c.297G>T (p.Leu99=) c.*374G>T (n.*374G>T) | gnomAD v4 |
X | g.48905429C>G | CA516360040 | SLC35A2 | c.480G>C (p.Leu160=) c.355-537G>C (n.355-537G>C) c.427-537G>C (n.427-537G>C) c.212-170G>C c.264G>C (p.Leu88=) c.564G>C (p.Leu188=) c.519G>C (p.Leu173=) c.*100G>C (n.*100G>C) c.441G>C (p.Leu147=) c.424+963G>C c.297G>C (p.Leu99=) c.*374G>C (n.*374G>C) | |
X | g.48905429C>T | CA516360039 | SLC35A2 | c.480G>A (p.Leu160=) c.355-537G>A (n.355-537G>A) c.427-537G>A (n.427-537G>A) c.212-170G>A c.264G>A (p.Leu88=) c.564G>A (p.Leu188=) c.519G>A (p.Leu173=) c.*100G>A (n.*100G>A) c.441G>A (p.Leu147=) c.424+963G>A c.297G>A (p.Leu99=) c.*374G>A (n.*374G>A) | |
X | g.48905430A>C | CA412895875 | SLC35A2 | c.479T>G (p.Leu160Arg) c.355-538T>G (n.355-538T>G) c.427-538T>G (n.427-538T>G) c.212-171T>G c.263T>G (p.Leu88Arg) c.563T>G (p.Leu188Arg) c.518T>G (p.Leu173Arg) c.*99T>G (n.*99T>G) c.440T>G (p.Leu147Arg) c.424+962T>G c.296T>G (p.Leu99Arg) c.*373T>G (n.*373T>G) | |
X | g.48905430A>G | CA412895876 | SLC35A2 | c.479T>C (p.Leu160Pro) c.355-538T>C (n.355-538T>C) c.427-538T>C (n.427-538T>C) c.212-171T>C c.263T>C (p.Leu88Pro) c.563T>C (p.Leu188Pro) c.518T>C (p.Leu173Pro) c.*99T>C (n.*99T>C) c.440T>C (p.Leu147Pro) c.424+962T>C c.296T>C (p.Leu99Pro) c.*373T>C (n.*373T>C) | gnomAD v4 |
X | g.48905430A>T | CA412895877 | SLC35A2 | c.479T>A (p.Leu160Gln) c.355-538T>A (n.355-538T>A) c.427-538T>A (n.427-538T>A) c.212-171T>A c.263T>A (p.Leu88Gln) c.563T>A (p.Leu188Gln) c.518T>A (p.Leu173Gln) c.*99T>A (n.*99T>A) c.440T>A (p.Leu147Gln) c.424+962T>A c.296T>A (p.Leu99Gln) c.*373T>A (n.*373T>A) | |
X | g.48905431G>A | CA516360044 | SLC35A2 | c.478C>T (p.Leu160=) c.355-539C>T (n.355-539C>T) c.427-539C>T (n.427-539C>T) c.212-172C>T c.262C>T (p.Leu88=) c.562C>T (p.Leu188=) c.517C>T (p.Leu173=) c.*98C>T (n.*98C>T) c.439C>T (p.Leu147=) c.424+961C>T c.295C>T (p.Leu99=) c.*372C>T (n.*372C>T) | |
X | g.48905431G>C | CA412895878 | SLC35A2 | c.478C>G (p.Leu160Val) c.355-539C>G (n.355-539C>G) c.427-539C>G (n.427-539C>G) c.212-172C>G c.262C>G (p.Leu88Val) c.562C>G (p.Leu188Val) c.517C>G (p.Leu173Val) c.*98C>G (n.*98C>G) c.439C>G (p.Leu147Val) c.424+961C>G c.295C>G (p.Leu99Val) c.*372C>G (n.*372C>G) | |
X | g.48905431G>T | CA412895879 | SLC35A2 | c.478C>A (p.Leu160Met) c.355-539C>A (n.355-539C>A) c.427-539C>A (n.427-539C>A) c.212-172C>A c.262C>A (p.Leu88Met) c.562C>A (p.Leu188Met) c.517C>A (p.Leu173Met) c.*98C>A (n.*98C>A) c.439C>A (p.Leu147Met) c.424+961C>A c.295C>A (p.Leu99Met) c.*372C>A (n.*372C>A) | gnomAD v4 |
X | g.48905432C>A | CA412895880 | SLC35A2 | c.477G>T (p.Met159Ile) c.355-540G>T (n.355-540G>T) c.427-540G>T (n.427-540G>T) c.212-173G>T c.261G>T (p.Met87Ile) c.561G>T (p.Met187Ile) c.516G>T (p.Met172Ile) c.*97G>T (n.*97G>T) c.438G>T (p.Met146Ile) c.424+960G>T c.294G>T (p.Met98Ile) c.*371G>T (n.*371G>T) | |
X | g.48905432C>G | CA412895882 | SLC35A2 | c.477G>C (p.Met159Ile) c.355-540G>C (n.355-540G>C) c.427-540G>C (n.427-540G>C) c.212-173G>C c.261G>C (p.Met87Ile) c.561G>C (p.Met187Ile) c.516G>C (p.Met172Ile) c.*97G>C (n.*97G>C) c.438G>C (p.Met146Ile) c.424+960G>C c.294G>C (p.Met98Ile) c.*371G>C (n.*371G>C) | |
X | g.48905432C>T | CA412895881 | SLC35A2 | c.477G>A (p.Met159Ile) c.355-540G>A (n.355-540G>A) c.427-540G>A (n.427-540G>A) c.212-173G>A c.261G>A (p.Met87Ile) c.561G>A (p.Met187Ile) c.516G>A (p.Met172Ile) c.*97G>A (n.*97G>A) c.438G>A (p.Met146Ile) c.424+960G>A c.294G>A (p.Met98Ile) c.*371G>A (n.*371G>A) | gnomAD v4 |
X | g.48905433A>C | CA412895883 | SLC35A2 | c.476T>G (p.Met159Arg) c.355-541T>G (n.355-541T>G) c.427-541T>G (n.427-541T>G) c.212-174T>G c.260T>G (p.Met87Arg) c.560T>G (p.Met187Arg) c.515T>G (p.Met172Arg) c.*96T>G (n.*96T>G) c.437T>G (p.Met146Arg) c.424+959T>G c.293T>G (p.Met98Arg) c.*370T>G (n.*370T>G) | |
X | g.48905433A>G | CA412895884 | SLC35A2 | c.476T>C (p.Met159Thr) c.355-541T>C (n.355-541T>C) c.427-541T>C (n.427-541T>C) c.212-174T>C c.260T>C (p.Met87Thr) c.560T>C (p.Met187Thr) c.515T>C (p.Met172Thr) c.*96T>C (n.*96T>C) c.437T>C (p.Met146Thr) c.424+959T>C c.293T>C (p.Met98Thr) c.*370T>C (n.*370T>C) | |
X | g.48905433A>T | CA412895885 | SLC35A2 | c.476T>A (p.Met159Lys) c.355-541T>A (n.355-541T>A) c.427-541T>A (n.427-541T>A) c.212-174T>A c.260T>A (p.Met87Lys) c.560T>A (p.Met187Lys) c.515T>A (p.Met172Lys) c.*96T>A (n.*96T>A) c.437T>A (p.Met146Lys) c.424+959T>A c.293T>A (p.Met98Lys) c.*370T>A (n.*370T>A) | |
X | g.48905434T>A | CA412895886 | SLC35A2 | c.475A>T (p.Met159Leu) c.355-542A>T (n.355-542A>T) c.427-542A>T (n.427-542A>T) c.212-175A>T c.259A>T (p.Met87Leu) c.559A>T (p.Met187Leu) c.514A>T (p.Met172Leu) c.*95A>T (n.*95A>T) c.436A>T (p.Met146Leu) c.424+958A>T c.292A>T (p.Met98Leu) c.*369A>T (n.*369A>T) | |
X | g.48905434T>C | CA412895887 | SLC35A2 | c.475A>G (p.Met159Val) c.355-542A>G (n.355-542A>G) c.427-542A>G (n.427-542A>G) c.212-175A>G c.259A>G (p.Met87Val) c.559A>G (p.Met187Val) c.514A>G (p.Met172Val) c.*95A>G (n.*95A>G) c.436A>G (p.Met146Val) c.424+958A>G c.292A>G (p.Met98Val) c.*369A>G (n.*369A>G) | |
X | g.48905434T>G | CA412895888 | SLC35A2 | c.475A>C (p.Met159Leu) c.355-542A>C (n.355-542A>C) c.427-542A>C (n.427-542A>C) c.212-175A>C c.259A>C (p.Met87Leu) c.559A>C (p.Met187Leu) c.514A>C (p.Met172Leu) c.*95A>C (n.*95A>C) c.436A>C (p.Met146Leu) c.424+958A>C c.292A>C (p.Met98Leu) c.*369A>C (n.*369A>C) | |
X | g.48905435G>A | CA516360049 | SLC35A2 | c.474C>T (p.Leu158=) c.355-543C>T (n.355-543C>T) c.427-543C>T (n.427-543C>T) c.212-176C>T c.258C>T (p.Leu86=) c.558C>T (p.Leu186=) c.513C>T (p.Leu171=) c.*94C>T (n.*94C>T) c.435C>T (p.Leu145=) c.424+957C>T c.291C>T (p.Leu97=) c.*368C>T (n.*368C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48905435G>C | CA516360050 | SLC35A2 | c.474C>G (p.Leu158=) c.355-543C>G (n.355-543C>G) c.427-543C>G (n.427-543C>G) c.212-176C>G c.258C>G (p.Leu86=) c.558C>G (p.Leu186=) c.513C>G (p.Leu171=) c.*94C>G (n.*94C>G) c.435C>G (p.Leu145=) c.424+957C>G c.291C>G (p.Leu97=) c.*368C>G (n.*368C>G) | |
X | g.48905435G= | CA2428428971 | SLC35A2 | c.474C= (p.Leu158=) c.355-543C= (n.355-543C=) c.427-543C= (n.427-543C=) c.212-176C= c.258C= (p.Leu86=) c.558C= (p.Leu186=) c.513C= (p.Leu171=) c.*94C= (n.*94C=) c.435C= (p.Leu145=) c.424+957C= c.291C= (p.Leu97=) c.*368C= (n.*368C=) | |
X | g.48905435G>T | CA516360052 | SLC35A2 | c.474C>A (p.Leu158=) c.355-543C>A (n.355-543C>A) c.427-543C>A (n.427-543C>A) c.212-176C>A c.258C>A (p.Leu86=) c.558C>A (p.Leu186=) c.513C>A (p.Leu171=) c.*94C>A (n.*94C>A) c.435C>A (p.Leu145=) c.424+957C>A c.291C>A (p.Leu97=) c.*368C>A (n.*368C>A) | gnomAD v4 |
X | g.48905436A>C | CA412895889 | SLC35A2 | c.473T>G (p.Leu158Arg) c.355-544T>G (n.355-544T>G) c.427-544T>G (n.427-544T>G) c.212-177T>G c.257T>G (p.Leu86Arg) c.557T>G (p.Leu186Arg) c.512T>G (p.Leu171Arg) c.*93T>G (n.*93T>G) c.434T>G (p.Leu145Arg) c.424+956T>G c.290T>G (p.Leu97Arg) c.*367T>G (n.*367T>G) | |
X | g.48905436A>G | CA412895890 | SLC35A2 | c.473T>C (p.Leu158Pro) c.355-544T>C (n.355-544T>C) c.427-544T>C (n.427-544T>C) c.212-177T>C c.257T>C (p.Leu86Pro) c.557T>C (p.Leu186Pro) c.512T>C (p.Leu171Pro) c.*93T>C (n.*93T>C) c.434T>C (p.Leu145Pro) c.424+956T>C c.290T>C (p.Leu97Pro) c.*367T>C (n.*367T>C) | gnomAD v4 |
X | g.48905436A>T | CA412895891 | SLC35A2 | c.473T>A (p.Leu158His) c.355-544T>A (n.355-544T>A) c.427-544T>A (n.427-544T>A) c.212-177T>A c.257T>A (p.Leu86His) c.557T>A (p.Leu186His) c.512T>A (p.Leu171His) c.*93T>A (n.*93T>A) c.434T>A (p.Leu145His) c.424+956T>A c.290T>A (p.Leu97His) c.*367T>A (n.*367T>A) | |
X | g.48905437G>A | CA412895894 | SLC35A2 | c.472C>T (p.Leu158Phe) c.355-545C>T (n.355-545C>T) c.427-545C>T (n.427-545C>T) c.212-178C>T c.256C>T (p.Leu86Phe) c.556C>T (p.Leu186Phe) c.511C>T (p.Leu171Phe) c.*92C>T (n.*92C>T) c.433C>T (p.Leu145Phe) c.424+955C>T c.289C>T (p.Leu97Phe) c.*366C>T (n.*366C>T) | gnomAD v4 |
X | g.48905437G>C | CA412895893 | SLC35A2 | c.472C>G (p.Leu158Val) c.355-545C>G (n.355-545C>G) c.427-545C>G (n.427-545C>G) c.212-178C>G c.256C>G (p.Leu86Val) c.556C>G (p.Leu186Val) c.511C>G (p.Leu171Val) c.*92C>G (n.*92C>G) c.433C>G (p.Leu145Val) c.424+955C>G c.289C>G (p.Leu97Val) c.*366C>G (n.*366C>G) | |
X | g.48905437G>T | CA412895892 | SLC35A2 | c.472C>A (p.Leu158Ile) c.355-545C>A (n.355-545C>A) c.427-545C>A (n.427-545C>A) c.212-178C>A c.256C>A (p.Leu86Ile) c.556C>A (p.Leu186Ile) c.511C>A (p.Leu171Ile) c.*92C>A (n.*92C>A) c.433C>A (p.Leu145Ile) c.424+955C>A c.289C>A (p.Leu97Ile) c.*366C>A (n.*366C>A) | gnomAD v4 |
X | g.48905438C>A | CA516360057 | SLC35A2 | c.471G>T (p.Val157=) c.355-546G>T (n.355-546G>T) c.427-546G>T (n.427-546G>T) c.212-179G>T c.255G>T (p.Val85=) c.555G>T (p.Val185=) c.510G>T (p.Val170=) c.*91G>T (n.*91G>T) c.432G>T (p.Val144=) c.424+954G>T c.288G>T (p.Val96=) c.*365G>T (n.*365G>T) | gnomAD v4 |
X | g.48905438C>G | CA516360056 | SLC35A2 | c.471G>C (p.Val157=) c.355-546G>C (n.355-546G>C) c.427-546G>C (n.427-546G>C) c.212-179G>C c.255G>C (p.Val85=) c.555G>C (p.Val185=) c.510G>C (p.Val170=) c.*91G>C (n.*91G>C) c.432G>C (p.Val144=) c.424+954G>C c.288G>C (p.Val96=) c.*365G>C (n.*365G>C) | |
X | g.48905438C>T | CA516360055 | SLC35A2 | c.471G>A (p.Val157=) c.355-546G>A (n.355-546G>A) c.427-546G>A (n.427-546G>A) c.212-179G>A c.255G>A (p.Val85=) c.555G>A (p.Val185=) c.510G>A (p.Val170=) c.*91G>A (n.*91G>A) c.432G>A (p.Val144=) c.424+954G>A c.288G>A (p.Val96=) c.*365G>A (n.*365G>A) | gnomAD v4 |
X | g.48905439A>C | CA412895895 | SLC35A2 | c.470T>G (p.Val157Gly) c.355-547T>G (n.355-547T>G) c.427-547T>G (n.427-547T>G) c.212-180T>G c.254T>G (p.Val85Gly) c.554T>G (p.Val185Gly) c.509T>G (p.Val170Gly) c.*90T>G (n.*90T>G) c.431T>G (p.Val144Gly) c.424+953T>G c.287T>G (p.Val96Gly) c.*364T>G (n.*364T>G) | |
X | g.48905439A>G | CA412895896 | SLC35A2 | c.470T>C (p.Val157Ala) c.355-547T>C (n.355-547T>C) c.427-547T>C (n.427-547T>C) c.212-180T>C c.254T>C (p.Val85Ala) c.554T>C (p.Val185Ala) c.509T>C (p.Val170Ala) c.*90T>C (n.*90T>C) c.431T>C (p.Val144Ala) c.424+953T>C c.287T>C (p.Val96Ala) c.*364T>C (n.*364T>C) | gnomAD v4 |
X | g.48905439A>T | CA412895897 | SLC35A2 | c.470T>A (p.Val157Glu) c.355-547T>A (n.355-547T>A) c.427-547T>A (n.427-547T>A) c.212-180T>A c.254T>A (p.Val85Glu) c.554T>A (p.Val185Glu) c.509T>A (p.Val170Glu) c.*90T>A (n.*90T>A) c.431T>A (p.Val144Glu) c.424+953T>A c.287T>A (p.Val96Glu) c.*364T>A (n.*364T>A) | |
X | g.48905440C>A | CA412895898 | SLC35A2 | c.469G>T (p.Val157Leu) c.355-548G>T (n.355-548G>T) c.427-548G>T (n.427-548G>T) c.212-181G>T c.253G>T (p.Val85Leu) c.553G>T (p.Val185Leu) c.508G>T (p.Val170Leu) c.*89G>T (n.*89G>T) c.430G>T (p.Val144Leu) c.424+952G>T c.286G>T (p.Val96Leu) c.*363G>T (n.*363G>T) | gnomAD v4 |
X | g.48905440C= | CA2428428972 | SLC35A2 | c.469G= (p.Val157=) c.355-548G= (n.355-548G=) c.427-548G= (n.427-548G=) c.212-181G= c.253G= (p.Val85=) c.553G= (p.Val185=) c.508G= (p.Val170=) c.*89G= (n.*89G=) c.430G= (p.Val144=) c.424+952G= c.286G= (p.Val96=) c.*363G= (n.*363G=) | |
X | g.48905440C>G | CA412895899 | SLC35A2 | c.469G>C (p.Val157Leu) c.355-548G>C (n.355-548G>C) c.427-548G>C (n.427-548G>C) c.212-181G>C c.253G>C (p.Val85Leu) c.553G>C (p.Val185Leu) c.508G>C (p.Val170Leu) c.*89G>C (n.*89G>C) c.430G>C (p.Val144Leu) c.424+952G>C c.286G>C (p.Val96Leu) c.*363G>C (n.*363G>C) | gnomAD v4 |
X | g.48905440C>T | CA10406125 | SLC35A2 | c.469G>A (p.Val157Met) c.355-548G>A (n.355-548G>A) c.427-548G>A (n.427-548G>A) c.212-181G>A c.253G>A (p.Val85Met) c.553G>A (p.Val185Met) c.508G>A (p.Val170Met) c.*89G>A (n.*89G>A) c.430G>A (p.Val144Met) c.424+952G>A c.286G>A (p.Val96Met) c.*363G>A (n.*363G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905441G>A | CA10406126 | SLC35A2 | c.468C>T (p.Ser156=) c.355-549C>T (n.355-549C>T) c.427-549C>T (n.427-549C>T) c.212-182C>T c.252C>T (p.Ser84=) c.552C>T (p.Ser184=) c.507C>T (p.Ser169=) c.*88C>T (n.*88C>T) c.429C>T (p.Ser143=) c.424+951C>T c.285C>T (p.Ser95=) c.*362C>T (n.*362C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.48905441G>C | CA516360069 | SLC35A2 | c.468C>G (p.Ser156=) c.355-549C>G (n.355-549C>G) c.427-549C>G (n.427-549C>G) c.212-182C>G c.252C>G (p.Ser84=) c.552C>G (p.Ser184=) c.507C>G (p.Ser169=) c.*88C>G (n.*88C>G) c.429C>G (p.Ser143=) c.424+951C>G c.285C>G (p.Ser95=) c.*362C>G (n.*362C>G) | |
X | g.48905441G= | CA2428428973 | SLC35A2 | c.468C= (p.Ser156=) c.355-549C= (n.355-549C=) c.427-549C= (n.427-549C=) c.212-182C= c.252C= (p.Ser84=) c.552C= (p.Ser184=) c.507C= (p.Ser169=) c.*88C= (n.*88C=) c.429C= (p.Ser143=) c.424+951C= c.285C= (p.Ser95=) c.*362C= (n.*362C=) | |
X | g.48905441G>T | CA516360070 | SLC35A2 | c.468C>A (p.Ser156=) c.355-549C>A (n.355-549C>A) c.427-549C>A (n.427-549C>A) c.212-182C>A c.252C>A (p.Ser84=) c.552C>A (p.Ser184=) c.507C>A (p.Ser169=) c.*88C>A (n.*88C>A) c.429C>A (p.Ser143=) c.424+951C>A c.285C>A (p.Ser95=) c.*362C>A (n.*362C>A) | |
X | g.48905442_48905444del | CA2695233843 | SLC35A2 | c.466_468del (p.Ser156del) c.355-551_355-549del (n.355-551_355-549del) c.427-551_427-549del (n.427-551_427-549del) c.212-184_212-182del c.250_252del (p.Ser84del) c.550_552del (p.Ser184del) c.505_507del (p.Ser169del) c.*86_*88del (n.*86_*88del) c.427_429del (p.Ser143del) c.424+949_424+951del c.283_285del (p.Ser95del) c.*360_*362del (n.*360_*362del) | |
X | g.48905442G>A | CA412895900 | SLC35A2 | c.467C>T (p.Ser156Phe) c.355-550C>T (n.355-550C>T) c.427-550C>T (n.427-550C>T) c.212-183C>T c.251C>T (p.Ser84Phe) c.551C>T (p.Ser184Phe) c.506C>T (p.Ser169Phe) c.*87C>T (n.*87C>T) c.428C>T (p.Ser143Phe) c.424+950C>T c.284C>T (p.Ser95Phe) c.*361C>T (n.*361C>T) | gnomAD v4 |
X | g.48905442G>C | CA412895901 | SLC35A2 | c.467C>G (p.Ser156Cys) c.355-550C>G (n.355-550C>G) c.427-550C>G (n.427-550C>G) c.212-183C>G c.251C>G (p.Ser84Cys) c.551C>G (p.Ser184Cys) c.506C>G (p.Ser169Cys) c.*87C>G (n.*87C>G) c.428C>G (p.Ser143Cys) c.424+950C>G c.284C>G (p.Ser95Cys) c.*361C>G (n.*361C>G) | |
X | g.48905442G>T | CA412895902 | SLC35A2 | c.467C>A (p.Ser156Tyr) c.355-550C>A (n.355-550C>A) c.427-550C>A (n.427-550C>A) c.212-183C>A c.251C>A (p.Ser84Tyr) c.551C>A (p.Ser184Tyr) c.506C>A (p.Ser169Tyr) c.*87C>A (n.*87C>A) c.428C>A (p.Ser143Tyr) c.424+950C>A c.284C>A (p.Ser95Tyr) c.*361C>A (n.*361C>A) | |
X | g.48905443A>C | CA412895903 | SLC35A2 | c.466T>G (p.Ser156Ala) c.355-551T>G (n.355-551T>G) c.427-551T>G (n.427-551T>G) c.212-184T>G c.250T>G (p.Ser84Ala) c.550T>G (p.Ser184Ala) c.505T>G (p.Ser169Ala) c.*86T>G (n.*86T>G) c.427T>G (p.Ser143Ala) c.424+949T>G c.283T>G (p.Ser95Ala) c.*360T>G (n.*360T>G) | |
X | g.48905443A>G | CA412895904 | SLC35A2 | c.466T>C (p.Ser156Pro) c.355-551T>C (n.355-551T>C) c.427-551T>C (n.427-551T>C) c.212-184T>C c.250T>C (p.Ser84Pro) c.550T>C (p.Ser184Pro) c.505T>C (p.Ser169Pro) c.*86T>C (n.*86T>C) c.427T>C (p.Ser143Pro) c.424+949T>C c.283T>C (p.Ser95Pro) c.*360T>C (n.*360T>C) | |
X | g.48905443A>T | CA412895905 | SLC35A2 | c.466T>A (p.Ser156Thr) c.355-551T>A (n.355-551T>A) c.427-551T>A (n.427-551T>A) c.212-184T>A c.250T>A (p.Ser84Thr) c.550T>A (p.Ser184Thr) c.505T>A (p.Ser169Thr) c.*86T>A (n.*86T>A) c.427T>A (p.Ser143Thr) c.424+949T>A c.283T>A (p.Ser95Thr) c.*360T>A (n.*360T>A) | |
X | g.48905444G>A | CA516360075 | SLC35A2 | c.465C>T (p.Phe155=) c.355-552C>T (n.355-552C>T) c.427-552C>T (n.427-552C>T) c.212-185C>T c.249C>T (p.Phe83=) c.549C>T (p.Phe183=) c.504C>T (p.Phe168=) c.*85C>T (n.*85C>T) c.426C>T (p.Phe142=) c.424+948C>T c.282C>T (p.Phe94=) c.*359C>T (n.*359C>T) | |
X | g.48905444G>C | CA412895906 | SLC35A2 | c.465C>G (p.Phe155Leu) c.355-552C>G (n.355-552C>G) c.427-552C>G (n.427-552C>G) c.212-185C>G c.249C>G (p.Phe83Leu) c.549C>G (p.Phe183Leu) c.504C>G (p.Phe168Leu) c.*85C>G (n.*85C>G) c.426C>G (p.Phe142Leu) c.424+948C>G c.282C>G (p.Phe94Leu) c.*359C>G (n.*359C>G) | ClinVar dbSNP |
X | g.48905444G= | CA2428428974 | SLC35A2 | c.465C= (p.Phe155=) c.355-552C= (n.355-552C=) c.427-552C= (n.427-552C=) c.212-185C= c.249C= (p.Phe83=) c.549C= (p.Phe183=) c.504C= (p.Phe168=) c.*85C= (n.*85C=) c.426C= (p.Phe142=) c.424+948C= c.282C= (p.Phe94=) c.*359C= (n.*359C=) | |
X | g.48905444G>T | CA412895907 | SLC35A2 | c.465C>A (p.Phe155Leu) c.355-552C>A (n.355-552C>A) c.427-552C>A (n.427-552C>A) c.212-185C>A c.249C>A (p.Phe83Leu) c.549C>A (p.Phe183Leu) c.504C>A (p.Phe168Leu) c.*85C>A (n.*85C>A) c.426C>A (p.Phe142Leu) c.424+948C>A c.282C>A (p.Phe94Leu) c.*359C>A (n.*359C>A) | |
X | g.48905445A>C | CA412895908 | SLC35A2 | c.464T>G (p.Phe155Cys) c.355-553T>G (n.355-553T>G) c.427-553T>G (n.427-553T>G) c.212-186T>G c.248T>G (p.Phe83Cys) c.548T>G (p.Phe183Cys) c.503T>G (p.Phe168Cys) c.*84T>G (n.*84T>G) c.425T>G (p.Phe142Cys) c.424+947T>G c.281T>G (p.Phe94Cys) c.*358T>G (n.*358T>G) | |
X | g.48905445A>G | CA412895909 | SLC35A2 | c.464T>C (p.Phe155Ser) c.355-553T>C (n.355-553T>C) c.427-553T>C (n.427-553T>C) c.212-186T>C c.248T>C (p.Phe83Ser) c.548T>C (p.Phe183Ser) c.503T>C (p.Phe168Ser) c.*84T>C (n.*84T>C) c.425T>C (p.Phe142Ser) c.424+947T>C c.281T>C (p.Phe94Ser) c.*358T>C (n.*358T>C) | |
X | g.48905445A>T | CA412895910 | SLC35A2 | c.464T>A (p.Phe155Tyr) c.355-553T>A (n.355-553T>A) c.427-553T>A (n.427-553T>A) c.212-186T>A c.248T>A (p.Phe83Tyr) c.548T>A (p.Phe183Tyr) c.503T>A (p.Phe168Tyr) c.*84T>A (n.*84T>A) c.425T>A (p.Phe142Tyr) c.424+947T>A c.281T>A (p.Phe94Tyr) c.*358T>A (n.*358T>A) | |
X | g.48905446A>C | CA412895911 | SLC35A2 | c.463T>G (p.Phe155Val) c.355-554T>G (n.355-554T>G) c.427-554T>G (n.427-554T>G) c.212-187T>G c.247T>G (p.Phe83Val) c.547T>G (p.Phe183Val) c.502T>G (p.Phe168Val) c.*83T>G (n.*83T>G) c.424T>G (p.Phe142Val) c.424+946T>G c.280T>G (p.Phe94Val) c.*357T>G (n.*357T>G) | |
X | g.48905446A>G | CA412895912 | SLC35A2 | c.463T>C (p.Phe155Leu) c.355-554T>C (n.355-554T>C) c.427-554T>C (n.427-554T>C) c.212-187T>C c.247T>C (p.Phe83Leu) c.547T>C (p.Phe183Leu) c.502T>C (p.Phe168Leu) c.*83T>C (n.*83T>C) c.424T>C (p.Phe142Leu) c.424+946T>C c.280T>C (p.Phe94Leu) c.*357T>C (n.*357T>C) | gnomAD v4 |
X | g.48905446A>T | CA412895913 | SLC35A2 | c.463T>A (p.Phe155Ile) c.355-554T>A (n.355-554T>A) c.427-554T>A (n.427-554T>A) c.212-187T>A c.247T>A (p.Phe83Ile) c.547T>A (p.Phe183Ile) c.502T>A (p.Phe168Ile) c.*83T>A (n.*83T>A) c.424T>A (p.Phe142Ile) c.424+946T>A c.280T>A (p.Phe94Ile) c.*357T>A (n.*357T>A) | |
X | g.48905447C>A | CA516360079 | SLC35A2 | c.462G>T (p.Leu154=) c.355-555G>T (n.355-555G>T) c.427-555G>T (n.427-555G>T) c.212-188G>T c.246G>T (p.Leu82=) c.546G>T (p.Leu182=) c.501G>T (p.Leu167=) c.*82G>T (n.*82G>T) c.423G>T (p.Leu141=) c.424+945G>T c.279G>T (p.Leu93=) c.*356G>T (n.*356G>T) | |
X | g.48905447C>G | CA516360081 | SLC35A2 | c.462G>C (p.Leu154=) c.355-555G>C (n.355-555G>C) c.427-555G>C (n.427-555G>C) c.212-188G>C c.246G>C (p.Leu82=) c.546G>C (p.Leu182=) c.501G>C (p.Leu167=) c.*82G>C (n.*82G>C) c.423G>C (p.Leu141=) c.424+945G>C c.279G>C (p.Leu93=) c.*356G>C (n.*356G>C) | |
X | g.48905447C>T | CA516360082 | SLC35A2 | c.462G>A (p.Leu154=) c.355-555G>A (n.355-555G>A) c.427-555G>A (n.427-555G>A) c.212-188G>A c.246G>A (p.Leu82=) c.546G>A (p.Leu182=) c.501G>A (p.Leu167=) c.*82G>A (n.*82G>A) c.423G>A (p.Leu141=) c.424+945G>A c.279G>A (p.Leu93=) c.*356G>A (n.*356G>A) | |
X | g.48905448A>C | CA412895914 | SLC35A2 | c.461T>G (p.Leu154Arg) c.355-556T>G (n.355-556T>G) c.427-556T>G (n.427-556T>G) c.212-189T>G c.245T>G (p.Leu82Arg) c.545T>G (p.Leu182Arg) c.500T>G (p.Leu167Arg) c.*81T>G (n.*81T>G) c.422T>G (p.Leu141Arg) c.424+944T>G c.278T>G (p.Leu93Arg) c.*355T>G (n.*355T>G) | |
X | g.48905448A>G | CA412895915 | SLC35A2 | c.461T>C (p.Leu154Pro) c.355-556T>C (n.355-556T>C) c.427-556T>C (n.427-556T>C) c.212-189T>C c.245T>C (p.Leu82Pro) c.545T>C (p.Leu182Pro) c.500T>C (p.Leu167Pro) c.*81T>C (n.*81T>C) c.422T>C (p.Leu141Pro) c.424+944T>C c.278T>C (p.Leu93Pro) c.*355T>C (n.*355T>C) | |
X | g.48905448A>T | CA412895916 | SLC35A2 | c.461T>A (p.Leu154Gln) c.355-556T>A (n.355-556T>A) c.427-556T>A (n.427-556T>A) c.212-189T>A c.245T>A (p.Leu82Gln) c.545T>A (p.Leu182Gln) c.500T>A (p.Leu167Gln) c.*81T>A (n.*81T>A) c.422T>A (p.Leu141Gln) c.424+944T>A c.278T>A (p.Leu93Gln) c.*355T>A (n.*355T>A) | |
X | g.48905449G>A | CA516360085 | SLC35A2 | c.460C>T (p.Leu154=) c.355-557C>T (n.355-557C>T) c.427-557C>T (n.427-557C>T) c.212-190C>T c.244C>T (p.Leu82=) c.544C>T (p.Leu182=) c.499C>T (p.Leu167=) c.*80C>T (n.*80C>T) c.421C>T (p.Leu141=) c.424+943C>T c.277C>T (p.Leu93=) c.*354C>T (n.*354C>T) | |
X | g.48905449G>C | CA412895917 | SLC35A2 | c.460C>G (p.Leu154Val) c.355-557C>G (n.355-557C>G) c.427-557C>G (n.427-557C>G) c.212-190C>G c.244C>G (p.Leu82Val) c.544C>G (p.Leu182Val) c.499C>G (p.Leu167Val) c.*80C>G (n.*80C>G) c.421C>G (p.Leu141Val) c.424+943C>G c.277C>G (p.Leu93Val) c.*354C>G (n.*354C>G) | |
X | g.48905449G>T | CA412895918 | SLC35A2 | c.460C>A (p.Leu154Met) c.355-557C>A (n.355-557C>A) c.427-557C>A (n.427-557C>A) c.212-190C>A c.244C>A (p.Leu82Met) c.544C>A (p.Leu182Met) c.499C>A (p.Leu167Met) c.*80C>A (n.*80C>A) c.421C>A (p.Leu141Met) c.424+943C>A c.277C>A (p.Leu93Met) c.*354C>A (n.*354C>A) | |
X | g.48905450C>A | CA516360086 | SLC35A2 | c.459G>T (p.Ala153=) c.355-558G>T (n.355-558G>T) c.427-558G>T (n.427-558G>T) c.212-191G>T c.243G>T (p.Ala81=) c.543G>T (p.Ala181=) c.498G>T (p.Ala166=) c.*79G>T (n.*79G>T) c.420G>T (p.Ala140=) c.424+942G>T c.276G>T (p.Ala92=) c.*353G>T (n.*353G>T) | gnomAD v4 |
X | g.48905450C= | CA2428428975 | SLC35A2 | c.459G= (p.Ala153=) c.355-558G= (n.355-558G=) c.427-558G= (n.427-558G=) c.212-191G= c.243G= (p.Ala81=) c.543G= (p.Ala181=) c.498G= (p.Ala166=) c.*79G= (n.*79G=) c.420G= (p.Ala140=) c.424+942G= c.276G= (p.Ala92=) c.*353G= (n.*353G=) | |
X | g.48905450C>G | CA516360087 | SLC35A2 | c.459G>C (p.Ala153=) c.355-558G>C (n.355-558G>C) c.427-558G>C (n.427-558G>C) c.212-191G>C c.243G>C (p.Ala81=) c.543G>C (p.Ala181=) c.498G>C (p.Ala166=) c.*79G>C (n.*79G>C) c.420G>C (p.Ala140=) c.424+942G>C c.276G>C (p.Ala92=) c.*353G>C (n.*353G>C) | |
X | g.48905450C>T | CA516360088 | SLC35A2 | c.459G>A (p.Ala153=) c.355-558G>A (n.355-558G>A) c.427-558G>A (n.427-558G>A) c.212-191G>A c.243G>A (p.Ala81=) c.543G>A (p.Ala181=) c.498G>A (p.Ala166=) c.*79G>A (n.*79G>A) c.420G>A (p.Ala140=) c.424+942G>A c.276G>A (p.Ala92=) c.*353G>A (n.*353G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48905451G>A | CA412895921 | SLC35A2 | c.458C>T (p.Ala153Val) c.355-559C>T (n.355-559C>T) c.427-559C>T (n.427-559C>T) c.212-192C>T c.242C>T (p.Ala81Val) c.542C>T (p.Ala181Val) c.497C>T (p.Ala166Val) c.*78C>T (n.*78C>T) c.419C>T (p.Ala140Val) c.424+941C>T c.275C>T (p.Ala92Val) c.*352C>T (n.*352C>T) | ClinVar gnomAD v4 |
X | g.48905451G>C | CA412895920 | SLC35A2 | c.458C>G (p.Ala153Gly) c.355-559C>G (n.355-559C>G) c.427-559C>G (n.427-559C>G) c.212-192C>G c.242C>G (p.Ala81Gly) c.542C>G (p.Ala181Gly) c.497C>G (p.Ala166Gly) c.*78C>G (n.*78C>G) c.419C>G (p.Ala140Gly) c.424+941C>G c.275C>G (p.Ala92Gly) c.*352C>G (n.*352C>G) | |
X | g.48905451G>T | CA412895919 | SLC35A2 | c.458C>A (p.Ala153Glu) c.355-559C>A (n.355-559C>A) c.427-559C>A (n.427-559C>A) c.212-192C>A c.242C>A (p.Ala81Glu) c.542C>A (p.Ala181Glu) c.497C>A (p.Ala166Glu) c.*78C>A (n.*78C>A) c.419C>A (p.Ala140Glu) c.424+941C>A c.275C>A (p.Ala92Glu) c.*352C>A (n.*352C>A) | gnomAD v4 |
X | g.48905452C>A | CA412895922 | SLC35A2 | c.457G>T (p.Ala153Ser) c.355-560G>T (n.355-560G>T) c.427-560G>T (n.427-560G>T) c.212-193G>T c.241G>T (p.Ala81Ser) c.541G>T (p.Ala181Ser) c.496G>T (p.Ala166Ser) c.*77G>T (n.*77G>T) c.418G>T (p.Ala140Ser) c.424+940G>T c.274G>T (p.Ala92Ser) c.*351G>T (n.*351G>T) | |
X | g.48905452C>G | CA412895924 | SLC35A2 | c.457G>C (p.Ala153Pro) c.355-560G>C (n.355-560G>C) c.427-560G>C (n.427-560G>C) c.212-193G>C c.241G>C (p.Ala81Pro) c.541G>C (p.Ala181Pro) c.496G>C (p.Ala166Pro) c.*77G>C (n.*77G>C) c.418G>C (p.Ala140Pro) c.424+940G>C c.274G>C (p.Ala92Pro) c.*351G>C (n.*351G>C) | |
X | g.48905452C>T | CA412895923 | SLC35A2 | c.457G>A (p.Ala153Thr) c.355-560G>A (n.355-560G>A) c.427-560G>A (n.427-560G>A) c.212-193G>A c.241G>A (p.Ala81Thr) c.541G>A (p.Ala181Thr) c.496G>A (p.Ala166Thr) c.*77G>A (n.*77G>A) c.418G>A (p.Ala140Thr) c.424+940G>A c.274G>A (p.Ala92Thr) c.*351G>A (n.*351G>A) | |
X | g.48905453T>A | CA516360094 | SLC35A2 | c.456A>T (p.Thr152=) c.355-561A>T (n.355-561A>T) c.427-561A>T (n.427-561A>T) c.212-194A>T c.240A>T (p.Thr80=) c.540A>T (p.Thr180=) c.495A>T (p.Thr165=) c.*76A>T (n.*76A>T) c.417A>T (p.Thr139=) c.424+939A>T c.273A>T (p.Thr91=) c.*350A>T (n.*350A>T) | |
X | g.48905453T>C | CA516360095 | SLC35A2 | c.456A>G (p.Thr152=) c.355-561A>G (n.355-561A>G) c.427-561A>G (n.427-561A>G) c.212-194A>G c.240A>G (p.Thr80=) c.540A>G (p.Thr180=) c.495A>G (p.Thr165=) c.*76A>G (n.*76A>G) c.417A>G (p.Thr139=) c.424+939A>G c.273A>G (p.Thr91=) c.*350A>G (n.*350A>G) | |
X | g.48905453T>G | CA10406127 | SLC35A2 | c.456A>C (p.Thr152=) c.355-561A>C (n.355-561A>C) c.427-561A>C (n.427-561A>C) c.212-194A>C c.240A>C (p.Thr80=) c.540A>C (p.Thr180=) c.495A>C (p.Thr165=) c.*76A>C (n.*76A>C) c.417A>C (p.Thr139=) c.424+939A>C c.273A>C (p.Thr91=) c.*350A>C (n.*350A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905453T= | CA2428428976 | SLC35A2 | c.456A= (p.Thr152=) c.355-561A= (n.355-561A=) c.427-561A= (n.427-561A=) c.212-194A= c.240A= (p.Thr80=) c.540A= (p.Thr180=) c.495A= (p.Thr165=) c.*76A= (n.*76A=) c.417A= (p.Thr139=) c.424+939A= c.273A= (p.Thr91=) c.*350A= (n.*350A=) | |
X | g.48905454G>A | CA412895925 | SLC35A2 | c.455C>T (p.Thr152Ile) c.355-562C>T (n.355-562C>T) c.427-562C>T (n.427-562C>T) c.212-195C>T c.239C>T (p.Thr80Ile) c.539C>T (p.Thr180Ile) c.494C>T (p.Thr165Ile) c.*75C>T (n.*75C>T) c.416C>T (p.Thr139Ile) c.424+938C>T c.272C>T (p.Thr91Ile) c.*349C>T (n.*349C>T) | |
X | g.48905454G>C | CA412895926 | SLC35A2 | c.455C>G (p.Thr152Arg) c.355-562C>G (n.355-562C>G) c.427-562C>G (n.427-562C>G) c.212-195C>G c.239C>G (p.Thr80Arg) c.539C>G (p.Thr180Arg) c.494C>G (p.Thr165Arg) c.*75C>G (n.*75C>G) c.416C>G (p.Thr139Arg) c.424+938C>G c.272C>G (p.Thr91Arg) c.*349C>G (n.*349C>G) | |
X | g.48905454G>T | CA412895927 | SLC35A2 | c.455C>A (p.Thr152Lys) c.355-562C>A (n.355-562C>A) c.427-562C>A (n.427-562C>A) c.212-195C>A c.239C>A (p.Thr80Lys) c.539C>A (p.Thr180Lys) c.494C>A (p.Thr165Lys) c.*75C>A (n.*75C>A) c.416C>A (p.Thr139Lys) c.424+938C>A c.272C>A (p.Thr91Lys) c.*349C>A (n.*349C>A) | |
X | g.48905455T>A | CA412895928 | SLC35A2 | c.454A>T (p.Thr152Ser) c.355-563A>T (n.355-563A>T) c.427-563A>T (n.427-563A>T) c.212-196A>T c.238A>T (p.Thr80Ser) c.538A>T (p.Thr180Ser) c.493A>T (p.Thr165Ser) c.*74A>T (n.*74A>T) c.415A>T (p.Thr139Ser) c.424+937A>T c.271A>T (p.Thr91Ser) c.*348A>T (n.*348A>T) | |
X | g.48905455T>C | CA412895929 | SLC35A2 | c.454A>G (p.Thr152Ala) c.355-563A>G (n.355-563A>G) c.427-563A>G (n.427-563A>G) c.212-196A>G c.238A>G (p.Thr80Ala) c.538A>G (p.Thr180Ala) c.493A>G (p.Thr165Ala) c.*74A>G (n.*74A>G) c.415A>G (p.Thr139Ala) c.424+937A>G c.271A>G (p.Thr91Ala) c.*348A>G (n.*348A>G) | gnomAD v4 |
X | g.48905455T>G | CA412895930 | SLC35A2 | c.454A>C (p.Thr152Pro) c.355-563A>C (n.355-563A>C) c.427-563A>C (n.427-563A>C) c.212-196A>C c.238A>C (p.Thr80Pro) c.538A>C (p.Thr180Pro) c.493A>C (p.Thr165Pro) c.*74A>C (n.*74A>C) c.415A>C (p.Thr139Pro) c.424+937A>C c.271A>C (p.Thr91Pro) c.*348A>C (n.*348A>C) | |
X | g.48905456G>A | CA516360102 | SLC35A2 | c.453C>T (p.Thr151=) c.355-564C>T (n.355-564C>T) c.427-564C>T (n.427-564C>T) c.212-197C>T c.237C>T (p.Thr79=) c.537C>T (p.Thr179=) c.492C>T (p.Thr164=) c.*73C>T (n.*73C>T) c.414C>T (p.Thr138=) c.424+936C>T c.270C>T (p.Thr90=) c.*347C>T (n.*347C>T) | |
X | g.48905456G>C | CA516360103 | SLC35A2 | c.453C>G (p.Thr151=) c.355-564C>G (n.355-564C>G) c.427-564C>G (n.427-564C>G) c.212-197C>G c.237C>G (p.Thr79=) c.537C>G (p.Thr179=) c.492C>G (p.Thr164=) c.*73C>G (n.*73C>G) c.414C>G (p.Thr138=) c.424+936C>G c.270C>G (p.Thr90=) c.*347C>G (n.*347C>G) | |
X | g.48905456G>T | CA516360104 | SLC35A2 | c.453C>A (p.Thr151=) c.355-564C>A (n.355-564C>A) c.427-564C>A (n.427-564C>A) c.212-197C>A c.237C>A (p.Thr79=) c.537C>A (p.Thr179=) c.492C>A (p.Thr164=) c.*73C>A (n.*73C>A) c.414C>A (p.Thr138=) c.424+936C>A c.270C>A (p.Thr90=) c.*347C>A (n.*347C>A) | gnomAD v4 |
X | g.48905457G>A | CA412895931 | SLC35A2 | c.452C>T (p.Thr151Ile) c.355-565C>T (n.355-565C>T) c.427-565C>T (n.427-565C>T) c.212-198C>T c.236C>T (p.Thr79Ile) c.536C>T (p.Thr179Ile) c.491C>T (p.Thr164Ile) c.*72C>T (n.*72C>T) c.413C>T (p.Thr138Ile) c.424+935C>T c.269C>T (p.Thr90Ile) c.*346C>T (n.*346C>T) | |
X | g.48905457G>C | CA412895932 | SLC35A2 | c.452C>G (p.Thr151Ser) c.355-565C>G (n.355-565C>G) c.427-565C>G (n.427-565C>G) c.212-198C>G c.236C>G (p.Thr79Ser) c.536C>G (p.Thr179Ser) c.491C>G (p.Thr164Ser) c.*72C>G (n.*72C>G) c.413C>G (p.Thr138Ser) c.424+935C>G c.269C>G (p.Thr90Ser) c.*346C>G (n.*346C>G) | |
X | g.48905457G>T | CA412895933 | SLC35A2 | c.452C>A (p.Thr151Asn) c.355-565C>A (n.355-565C>A) c.427-565C>A (n.427-565C>A) c.212-198C>A c.236C>A (p.Thr79Asn) c.536C>A (p.Thr179Asn) c.491C>A (p.Thr164Asn) c.*72C>A (n.*72C>A) c.413C>A (p.Thr138Asn) c.424+935C>A c.269C>A (p.Thr90Asn) c.*346C>A (n.*346C>A) | |
X | g.48905458T>A | CA412895936 | SLC35A2 | c.451A>T (p.Thr151Ser) c.355-566A>T (n.355-566A>T) c.427-566A>T (n.427-566A>T) c.212-199A>T c.235A>T (p.Thr79Ser) c.535A>T (p.Thr179Ser) c.490A>T (p.Thr164Ser) c.*71A>T (n.*71A>T) c.412A>T (p.Thr138Ser) c.424+934A>T c.268A>T (p.Thr90Ser) c.*345A>T (n.*345A>T) | |
X | g.48905458T>C | CA412895935 | SLC35A2 | c.451A>G (p.Thr151Ala) c.355-566A>G (n.355-566A>G) c.427-566A>G (n.427-566A>G) c.212-199A>G c.235A>G (p.Thr79Ala) c.535A>G (p.Thr179Ala) c.490A>G (p.Thr164Ala) c.*71A>G (n.*71A>G) c.412A>G (p.Thr138Ala) c.424+934A>G c.268A>G (p.Thr90Ala) c.*345A>G (n.*345A>G) | |
X | g.48905458T>G | CA412895934 | SLC35A2 | c.451A>C (p.Thr151Pro) c.355-566A>C (n.355-566A>C) c.427-566A>C (n.427-566A>C) c.212-199A>C c.235A>C (p.Thr79Pro) c.535A>C (p.Thr179Pro) c.490A>C (p.Thr164Pro) c.*71A>C (n.*71A>C) c.412A>C (p.Thr138Pro) c.424+934A>C c.268A>C (p.Thr90Pro) c.*345A>C (n.*345A>C) | |
X | g.48905459C>A | CA516360110 | SLC35A2 | c.450G>T (p.Leu150=) c.355-567G>T (n.355-567G>T) c.427-567G>T (n.427-567G>T) c.212-200G>T c.234G>T (p.Leu78=) c.534G>T (p.Leu178=) c.489G>T (p.Leu163=) c.*70G>T (n.*70G>T) c.411G>T (p.Leu137=) c.424+933G>T c.267G>T (p.Leu89=) c.*344G>T (n.*344G>T) | |
X | g.48905459C= | CA2428428977 | SLC35A2 | c.450G= (p.Leu150=) c.355-567G= (n.355-567G=) c.427-567G= (n.427-567G=) c.212-200G= c.234G= (p.Leu78=) c.534G= (p.Leu178=) c.489G= (p.Leu163=) c.*70G= (n.*70G=) c.411G= (p.Leu137=) c.424+933G= c.267G= (p.Leu89=) c.*344G= (n.*344G=) | |
X | g.48905459C>G | CA516360109 | SLC35A2 | c.450G>C (p.Leu150=) c.355-567G>C (n.355-567G>C) c.427-567G>C (n.427-567G>C) c.212-200G>C c.234G>C (p.Leu78=) c.534G>C (p.Leu178=) c.489G>C (p.Leu163=) c.*70G>C (n.*70G>C) c.411G>C (p.Leu137=) c.424+933G>C c.267G>C (p.Leu89=) c.*344G>C (n.*344G>C) | dbSNP gnomAD v4 |
X | g.48905459C>T | CA516360108 | SLC35A2 | c.450G>A (p.Leu150=) c.355-567G>A (n.355-567G>A) c.427-567G>A (n.427-567G>A) c.212-200G>A c.234G>A (p.Leu78=) c.534G>A (p.Leu178=) c.489G>A (p.Leu163=) c.*70G>A (n.*70G>A) c.411G>A (p.Leu137=) c.424+933G>A c.267G>A (p.Leu89=) c.*344G>A (n.*344G>A) | gnomAD v4 |
X | g.48905460A>C | CA412895937 | SLC35A2 | c.449T>G (p.Leu150Arg) c.355-568T>G (n.355-568T>G) c.427-568T>G (n.427-568T>G) c.212-201T>G c.233T>G (p.Leu78Arg) c.533T>G (p.Leu178Arg) c.488T>G (p.Leu163Arg) c.*69T>G (n.*69T>G) c.410T>G (p.Leu137Arg) c.424+932T>G c.266T>G (p.Leu89Arg) c.*343T>G (n.*343T>G) | |
X | g.48905460A>G | CA412895938 | SLC35A2 | c.449T>C (p.Leu150Pro) c.355-568T>C (n.355-568T>C) c.427-568T>C (n.427-568T>C) c.212-201T>C c.233T>C (p.Leu78Pro) c.533T>C (p.Leu178Pro) c.488T>C (p.Leu163Pro) c.*69T>C (n.*69T>C) c.410T>C (p.Leu137Pro) c.424+932T>C c.266T>C (p.Leu89Pro) c.*343T>C (n.*343T>C) | gnomAD v4 |
X | g.48905460A>T | CA412895939 | SLC35A2 | c.449T>A (p.Leu150Gln) c.355-568T>A (n.355-568T>A) c.427-568T>A (n.427-568T>A) c.212-201T>A c.233T>A (p.Leu78Gln) c.533T>A (p.Leu178Gln) c.488T>A (p.Leu163Gln) c.*69T>A (n.*69T>A) c.410T>A (p.Leu137Gln) c.424+932T>A c.266T>A (p.Leu89Gln) c.*343T>A (n.*343T>A) | |
X | g.48905461G>A | CA10406128 | SLC35A2 | c.448C>T (p.Leu150=) c.355-569C>T (n.355-569C>T) c.427-569C>T (n.427-569C>T) c.212-202C>T c.232C>T (p.Leu78=) c.532C>T (p.Leu178=) c.487C>T (p.Leu163=) c.*68C>T (n.*68C>T) c.409C>T (p.Leu137=) c.424+931C>T c.265C>T (p.Leu89=) c.*342C>T (n.*342C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905461G>C | CA412895940 | SLC35A2 | c.448C>G (p.Leu150Val) c.355-569C>G (n.355-569C>G) c.427-569C>G (n.427-569C>G) c.212-202C>G c.232C>G (p.Leu78Val) c.532C>G (p.Leu178Val) c.487C>G (p.Leu163Val) c.*68C>G (n.*68C>G) c.409C>G (p.Leu137Val) c.424+931C>G c.265C>G (p.Leu89Val) c.*342C>G (n.*342C>G) | |
X | g.48905461G= | CA2428428978 | SLC35A2 | c.448C= (p.Leu150=) c.355-569C= (n.355-569C=) c.427-569C= (n.427-569C=) c.212-202C= c.232C= (p.Leu78=) c.532C= (p.Leu178=) c.487C= (p.Leu163=) c.*68C= (n.*68C=) c.409C= (p.Leu137=) c.424+931C= c.265C= (p.Leu89=) c.*342C= (n.*342C=) | |
X | g.48905461G>T | CA412895941 | SLC35A2 | c.448C>A (p.Leu150Met) c.355-569C>A (n.355-569C>A) c.427-569C>A (n.427-569C>A) c.212-202C>A c.232C>A (p.Leu78Met) c.532C>A (p.Leu178Met) c.487C>A (p.Leu163Met) c.*68C>A (n.*68C>A) c.409C>A (p.Leu137Met) c.424+931C>A c.265C>A (p.Leu89Met) c.*342C>A (n.*342C>A) | |
X | g.48905462G>A | CA516360115 | SLC35A2 | c.447C>T (p.Ile149=) c.355-570C>T (n.355-570C>T) c.427-570C>T (n.427-570C>T) c.212-203C>T c.231C>T (p.Ile77=) c.531C>T (p.Ile177=) c.486C>T (p.Ile162=) c.*67C>T (n.*67C>T) c.408C>T (p.Ile136=) c.424+930C>T c.264C>T (p.Ile88=) c.*341C>T (n.*341C>T) | |
X | g.48905462G>C | CA412895942 | SLC35A2 | c.447C>G (p.Ile149Met) c.355-570C>G (n.355-570C>G) c.427-570C>G (n.427-570C>G) c.212-203C>G c.231C>G (p.Ile77Met) c.531C>G (p.Ile177Met) c.486C>G (p.Ile162Met) c.*67C>G (n.*67C>G) c.408C>G (p.Ile136Met) c.424+930C>G c.264C>G (p.Ile88Met) c.*341C>G (n.*341C>G) | gnomAD v4 |
X | g.48905462G= | CA2428428979 | SLC35A2 | c.447C= (p.Ile149=) c.355-570C= (n.355-570C=) c.427-570C= (n.427-570C=) c.212-203C= c.231C= (p.Ile77=) c.531C= (p.Ile177=) c.486C= (p.Ile162=) c.*67C= (n.*67C=) c.408C= (p.Ile136=) c.424+930C= c.264C= (p.Ile88=) c.*341C= (n.*341C=) | |
X | g.48905462G>T | CA10406129 | SLC35A2 | c.447C>A (p.Ile149=) c.355-570C>A (n.355-570C>A) c.427-570C>A (n.427-570C>A) c.212-203C>A c.231C>A (p.Ile77=) c.531C>A (p.Ile177=) c.486C>A (p.Ile162=) c.*67C>A (n.*67C>A) c.408C>A (p.Ile136=) c.424+930C>A c.264C>A (p.Ile88=) c.*341C>A (n.*341C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905463A>C | CA412895943 | SLC35A2 | c.446T>G (p.Ile149Ser) c.355-571T>G (n.355-571T>G) c.427-571T>G (n.427-571T>G) c.212-204T>G c.230T>G (p.Ile77Ser) c.530T>G (p.Ile177Ser) c.485T>G (p.Ile162Ser) c.*66T>G (n.*66T>G) c.407T>G (p.Ile136Ser) c.424+929T>G c.263T>G (p.Ile88Ser) c.*340T>G (n.*340T>G) | |
X | g.48905463A>G | CA412895944 | SLC35A2 | c.446T>C (p.Ile149Thr) c.355-571T>C (n.355-571T>C) c.427-571T>C (n.427-571T>C) c.212-204T>C c.230T>C (p.Ile77Thr) c.530T>C (p.Ile177Thr) c.485T>C (p.Ile162Thr) c.*66T>C (n.*66T>C) c.407T>C (p.Ile136Thr) c.424+929T>C c.263T>C (p.Ile88Thr) c.*340T>C (n.*340T>C) | |
X | g.48905463A>T | CA412895945 | SLC35A2 | c.446T>A (p.Ile149Asn) c.355-571T>A (n.355-571T>A) c.427-571T>A (n.427-571T>A) c.212-204T>A c.230T>A (p.Ile77Asn) c.530T>A (p.Ile177Asn) c.485T>A (p.Ile162Asn) c.*66T>A (n.*66T>A) c.407T>A (p.Ile136Asn) c.424+929T>A c.263T>A (p.Ile88Asn) c.*340T>A (n.*340T>A) | |
X | g.48905464T>A | CA412895947 | SLC35A2 | c.445A>T (p.Ile149Phe) c.355-572A>T (n.355-572A>T) c.427-572A>T (n.427-572A>T) c.212-205A>T c.229A>T (p.Ile77Phe) c.529A>T (p.Ile177Phe) c.484A>T (p.Ile162Phe) c.*65A>T (n.*65A>T) c.406A>T (p.Ile136Phe) c.424+928A>T c.262A>T (p.Ile88Phe) c.*339A>T (n.*339A>T) | |
X | g.48905464T>C | CA412895948 | SLC35A2 | c.445A>G (p.Ile149Val) c.355-572A>G (n.355-572A>G) c.427-572A>G (n.427-572A>G) c.212-205A>G c.229A>G (p.Ile77Val) c.529A>G (p.Ile177Val) c.484A>G (p.Ile162Val) c.*65A>G (n.*65A>G) c.406A>G (p.Ile136Val) c.424+928A>G c.262A>G (p.Ile88Val) c.*339A>G (n.*339A>G) | |
X | g.48905464T>G | CA412895946 | SLC35A2 | c.445A>C (p.Ile149Leu) c.355-572A>C (n.355-572A>C) c.427-572A>C (n.427-572A>C) c.212-205A>C c.229A>C (p.Ile77Leu) c.529A>C (p.Ile177Leu) c.484A>C (p.Ile162Leu) c.*65A>C (n.*65A>C) c.406A>C (p.Ile136Leu) c.424+928A>C c.262A>C (p.Ile88Leu) c.*339A>C (n.*339A>C) | |
X | g.48905465C>A | CA412895949 | SLC35A2 | c.444G>T (p.Lys148Asn) c.355-573G>T (n.355-573G>T) c.427-573G>T (n.427-573G>T) c.212-206G>T c.228G>T (p.Lys76Asn) c.528G>T (p.Lys176Asn) c.483G>T (p.Lys161Asn) c.*64G>T (n.*64G>T) c.405G>T (p.Lys135Asn) c.424+927G>T c.261G>T (p.Lys87Asn) c.*338G>T (n.*338G>T) | gnomAD v4 |
X | g.48905465C= | CA2428428980 | SLC35A2 | c.444G= (p.Lys148=) c.355-573G= (n.355-573G=) c.427-573G= (n.427-573G=) c.212-206G= c.228G= (p.Lys76=) c.528G= (p.Lys176=) c.483G= (p.Lys161=) c.*64G= (n.*64G=) c.405G= (p.Lys135=) c.424+927G= c.261G= (p.Lys87=) c.*338G= (n.*338G=) | |
X | g.48905465C>G | CA412895950 | SLC35A2 | c.444G>C (p.Lys148Asn) c.355-573G>C (n.355-573G>C) c.427-573G>C (n.427-573G>C) c.212-206G>C c.228G>C (p.Lys76Asn) c.528G>C (p.Lys176Asn) c.483G>C (p.Lys161Asn) c.*64G>C (n.*64G>C) c.405G>C (p.Lys135Asn) c.424+927G>C c.261G>C (p.Lys87Asn) c.*338G>C (n.*338G>C) | |
X | g.48905465C>T | CA516360123 | SLC35A2 | c.444G>A (p.Lys148=) c.355-573G>A (n.355-573G>A) c.427-573G>A (n.427-573G>A) c.212-206G>A c.228G>A (p.Lys76=) c.528G>A (p.Lys176=) c.483G>A (p.Lys161=) c.*64G>A (n.*64G>A) c.405G>A (p.Lys135=) c.424+927G>A c.261G>A (p.Lys87=) c.*338G>A (n.*338G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48905466T>A | CA412895951 | SLC35A2 | c.443A>T (p.Lys148Met) c.355-574A>T (n.355-574A>T) c.427-574A>T (n.427-574A>T) c.212-207A>T c.227A>T (p.Lys76Met) c.527A>T (p.Lys176Met) c.482A>T (p.Lys161Met) c.*63A>T (n.*63A>T) c.404A>T (p.Lys135Met) c.424+926A>T c.260A>T (p.Lys87Met) c.*337A>T (n.*337A>T) | |
X | g.48905466T>C | CA412895952 | SLC35A2 | c.443A>G (p.Lys148Arg) c.355-574A>G (n.355-574A>G) c.427-574A>G (n.427-574A>G) c.212-207A>G c.227A>G (p.Lys76Arg) c.527A>G (p.Lys176Arg) c.482A>G (p.Lys161Arg) c.*63A>G (n.*63A>G) c.404A>G (p.Lys135Arg) c.424+926A>G c.260A>G (p.Lys87Arg) c.*337A>G (n.*337A>G) | |
X | g.48905466T>G | CA412895953 | SLC35A2 | c.443A>C (p.Lys148Thr) c.355-574A>C (n.355-574A>C) c.427-574A>C (n.427-574A>C) c.212-207A>C c.227A>C (p.Lys76Thr) c.527A>C (p.Lys176Thr) c.482A>C (p.Lys161Thr) c.*63A>C (n.*63A>C) c.404A>C (p.Lys135Thr) c.424+926A>C c.260A>C (p.Lys87Thr) c.*337A>C (n.*337A>C) | |
X | g.48905467T>A | CA412895954 | SLC35A2 | c.442A>T (p.Lys148Ter) c.355-575A>T (n.355-575A>T) c.427-575A>T (n.427-575A>T) c.212-208A>T c.226A>T (p.Lys76Ter) c.526A>T (p.Lys176Ter) c.481A>T (p.Lys161Ter) c.*62A>T (n.*62A>T) c.403A>T (p.Lys135Ter) c.424+925A>T c.259A>T (p.Lys87Ter) c.*336A>T (n.*336A>T) | |
X | g.48905467T>C | CA412895955 | SLC35A2 | c.442A>G (p.Lys148Glu) c.355-575A>G (n.355-575A>G) c.427-575A>G (n.427-575A>G) c.212-208A>G c.226A>G (p.Lys76Glu) c.526A>G (p.Lys176Glu) c.481A>G (p.Lys161Glu) c.*62A>G (n.*62A>G) c.403A>G (p.Lys135Glu) c.424+925A>G c.259A>G (p.Lys87Glu) c.*336A>G (n.*336A>G) | |
X | g.48905467T>G | CA412895956 | SLC35A2 | c.442A>C (p.Lys148Gln) c.355-575A>C (n.355-575A>C) c.427-575A>C (n.427-575A>C) c.212-208A>C c.226A>C (p.Lys76Gln) c.526A>C (p.Lys176Gln) c.481A>C (p.Lys161Gln) c.*62A>C (n.*62A>C) c.403A>C (p.Lys135Gln) c.424+925A>C c.259A>C (p.Lys87Gln) c.*336A>C (n.*336A>C) | |
X | g.48905468C>A | CA516360128 | SLC35A2 | c.441G>T (p.Leu147=) c.355-576G>T (n.355-576G>T) c.427-576G>T (n.427-576G>T) c.212-209G>T c.225G>T (p.Leu75=) c.525G>T (p.Leu175=) c.480G>T (p.Leu160=) c.*61G>T (n.*61G>T) c.402G>T (p.Leu134=) c.424+924G>T c.258G>T (p.Leu86=) c.*335G>T (n.*335G>T) | |
X | g.48905468C>G | CA516360129 | SLC35A2 | c.441G>C (p.Leu147=) c.355-576G>C (n.355-576G>C) c.427-576G>C (n.427-576G>C) c.212-209G>C c.225G>C (p.Leu75=) c.525G>C (p.Leu175=) c.480G>C (p.Leu160=) c.*61G>C (n.*61G>C) c.402G>C (p.Leu134=) c.424+924G>C c.258G>C (p.Leu86=) c.*335G>C (n.*335G>C) | |
X | g.48905468C>T | CA516360131 | SLC35A2 | c.441G>A (p.Leu147=) c.355-576G>A (n.355-576G>A) c.427-576G>A (n.427-576G>A) c.212-209G>A c.225G>A (p.Leu75=) c.525G>A (p.Leu175=) c.480G>A (p.Leu160=) c.*61G>A (n.*61G>A) c.402G>A (p.Leu134=) c.424+924G>A c.258G>A (p.Leu86=) c.*335G>A (n.*335G>A) | gnomAD v4 |
X | g.48905469A>C | CA412895957 | SLC35A2 | c.440T>G (p.Leu147Arg) c.355-577T>G (n.355-577T>G) c.427-577T>G (n.427-577T>G) c.212-210T>G c.224T>G (p.Leu75Arg) c.524T>G (p.Leu175Arg) c.479T>G (p.Leu160Arg) c.*60T>G (n.*60T>G) c.401T>G (p.Leu134Arg) c.424+923T>G c.257T>G (p.Leu86Arg) c.*334T>G (n.*334T>G) | |
X | g.48905469A>G | CA412895958 | SLC35A2 | c.440T>C (p.Leu147Pro) c.355-577T>C (n.355-577T>C) c.427-577T>C (n.427-577T>C) c.212-210T>C c.224T>C (p.Leu75Pro) c.524T>C (p.Leu175Pro) c.479T>C (p.Leu160Pro) c.*60T>C (n.*60T>C) c.401T>C (p.Leu134Pro) c.424+923T>C c.257T>C (p.Leu86Pro) c.*334T>C (n.*334T>C) | |
X | g.48905469A>T | CA412895959 | SLC35A2 | c.440T>A (p.Leu147Gln) c.355-577T>A (n.355-577T>A) c.427-577T>A (n.427-577T>A) c.212-210T>A c.224T>A (p.Leu75Gln) c.524T>A (p.Leu175Gln) c.479T>A (p.Leu160Gln) c.*60T>A (n.*60T>A) c.401T>A (p.Leu134Gln) c.424+923T>A c.257T>A (p.Leu86Gln) c.*334T>A (n.*334T>A) | |
X | g.48905470G>A | CA10406130 | SLC35A2 | c.439C>T (p.Leu147=) c.355-578C>T (n.355-578C>T) c.427-578C>T (n.427-578C>T) c.212-211C>T c.223C>T (p.Leu75=) c.523C>T (p.Leu175=) c.478C>T (p.Leu160=) c.*59C>T (n.*59C>T) c.400C>T (p.Leu134=) c.424+922C>T c.256C>T (p.Leu86=) c.*333C>T (n.*333C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905470G>C | CA412895960 | SLC35A2 | c.439C>G (p.Leu147Val) c.355-578C>G (n.355-578C>G) c.427-578C>G (n.427-578C>G) c.212-211C>G c.223C>G (p.Leu75Val) c.523C>G (p.Leu175Val) c.478C>G (p.Leu160Val) c.*59C>G (n.*59C>G) c.400C>G (p.Leu134Val) c.424+922C>G c.256C>G (p.Leu86Val) c.*333C>G (n.*333C>G) | |
X | g.48905470G= | CA2428428981 | SLC35A2 | c.439C= (p.Leu147=) c.355-578C= (n.355-578C=) c.427-578C= (n.427-578C=) c.212-211C= c.223C= (p.Leu75=) c.523C= (p.Leu175=) c.478C= (p.Leu160=) c.*59C= (n.*59C=) c.400C= (p.Leu134=) c.424+922C= c.256C= (p.Leu86=) c.*333C= (n.*333C=) | |
X | g.48905470G>T | CA412895961 | SLC35A2 | c.439C>A (p.Leu147Met) c.355-578C>A (n.355-578C>A) c.427-578C>A (n.427-578C>A) c.212-211C>A c.223C>A (p.Leu75Met) c.523C>A (p.Leu175Met) c.478C>A (p.Leu160Met) c.*59C>A (n.*59C>A) c.400C>A (p.Leu134Met) c.424+922C>A c.256C>A (p.Leu86Met) c.*333C>A (n.*333C>A) | |
X | g.48905471C>A | CA412895962 | SLC35A2 | c.438G>T (p.Gln146His) c.355-579G>T (n.355-579G>T) c.427-579G>T (n.427-579G>T) c.212-212G>T c.222G>T (p.Gln74His) c.522G>T (p.Gln174His) c.477G>T (p.Gln159His) c.*58G>T (n.*58G>T) c.399G>T (p.Gln133His) c.424+921G>T c.255G>T (p.Gln85His) c.*332G>T (n.*332G>T) | |
X | g.48905471C>G | CA412895963 | SLC35A2 | c.438G>C (p.Gln146His) c.355-579G>C (n.355-579G>C) c.427-579G>C (n.427-579G>C) c.212-212G>C c.222G>C (p.Gln74His) c.522G>C (p.Gln174His) c.477G>C (p.Gln159His) c.*58G>C (n.*58G>C) c.399G>C (p.Gln133His) c.424+921G>C c.255G>C (p.Gln85His) c.*332G>C (n.*332G>C) | |
X | g.48905471C>T | CA516360135 | SLC35A2 | c.438G>A (p.Gln146=) c.355-579G>A (n.355-579G>A) c.427-579G>A (n.427-579G>A) c.212-212G>A c.222G>A (p.Gln74=) c.522G>A (p.Gln174=) c.477G>A (p.Gln159=) c.*58G>A (n.*58G>A) c.399G>A (p.Gln133=) c.424+921G>A c.255G>A (p.Gln85=) c.*332G>A (n.*332G>A) | |
X | g.48905472T>A | CA412895964 | SLC35A2 | c.437A>T (p.Gln146Leu) c.355-580A>T (n.355-580A>T) c.427-580A>T (n.427-580A>T) c.212-213A>T c.221A>T (p.Gln74Leu) c.521A>T (p.Gln174Leu) c.476A>T (p.Gln159Leu) c.*57A>T (n.*57A>T) c.398A>T (p.Gln133Leu) c.424+920A>T c.254A>T (p.Gln85Leu) c.*331A>T (n.*331A>T) | |
X | g.48905472T>C | CA412895965 | SLC35A2 | c.437A>G (p.Gln146Arg) c.355-580A>G (n.355-580A>G) c.427-580A>G (n.427-580A>G) c.212-213A>G c.221A>G (p.Gln74Arg) c.521A>G (p.Gln174Arg) c.476A>G (p.Gln159Arg) c.*57A>G (n.*57A>G) c.398A>G (p.Gln133Arg) c.424+920A>G c.254A>G (p.Gln85Arg) c.*331A>G (n.*331A>G) | |
X | g.48905472T>G | CA412895966 | SLC35A2 | c.437A>C (p.Gln146Pro) c.355-580A>C (n.355-580A>C) c.427-580A>C (n.427-580A>C) c.212-213A>C c.221A>C (p.Gln74Pro) c.521A>C (p.Gln174Pro) c.476A>C (p.Gln159Pro) c.*57A>C (n.*57A>C) c.398A>C (p.Gln133Pro) c.424+920A>C c.254A>C (p.Gln85Pro) c.*331A>C (n.*331A>C) | |
X | g.48905473G>A | CA412895968 | SLC35A2 | c.436C>T (p.Gln146Ter) c.355-581C>T (n.355-581C>T) c.427-581C>T (n.427-581C>T) c.212-214C>T c.220C>T (p.Gln74Ter) c.520C>T (p.Gln174Ter) c.475C>T (p.Gln159Ter) c.*56C>T (n.*56C>T) c.397C>T (p.Gln133Ter) c.424+919C>T c.253C>T (p.Gln85Ter) c.*330C>T (n.*330C>T) | |
X | g.48905473G>C | CA412895969 | SLC35A2 | c.436C>G (p.Gln146Glu) c.355-581C>G (n.355-581C>G) c.427-581C>G (n.427-581C>G) c.212-214C>G c.220C>G (p.Gln74Glu) c.520C>G (p.Gln174Glu) c.475C>G (p.Gln159Glu) c.*56C>G (n.*56C>G) c.397C>G (p.Gln133Glu) c.424+919C>G c.253C>G (p.Gln85Glu) c.*330C>G (n.*330C>G) | |
X | g.48905473G>T | CA412895971 | SLC35A2 | c.436C>A (p.Gln146Lys) c.355-581C>A (n.355-581C>A) c.427-581C>A (n.427-581C>A) c.212-214C>A c.220C>A (p.Gln74Lys) c.520C>A (p.Gln174Lys) c.475C>A (p.Gln159Lys) c.*56C>A (n.*56C>A) c.397C>A (p.Gln133Lys) c.424+919C>A c.253C>A (p.Gln85Lys) c.*330C>A (n.*330C>A) | gnomAD v4 |
X | g.48905474G>A | CA516360142 | SLC35A2 | c.435C>T (p.Tyr145=) c.355-582C>T (n.355-582C>T) c.427-582C>T (n.427-582C>T) c.212-215C>T c.219C>T (p.Tyr73=) c.519C>T (p.Tyr173=) c.474C>T (p.Tyr158=) c.*55C>T (n.*55C>T) c.396C>T (p.Tyr132=) c.424+918C>T c.252C>T (p.Tyr84=) c.*329C>T (n.*329C>T) | gnomAD v4 |
X | g.48905474G>C | CA412895973 | SLC35A2 | c.435C>G (p.Tyr145Ter) c.355-582C>G (n.355-582C>G) c.427-582C>G (n.427-582C>G) c.212-215C>G c.219C>G (p.Tyr73Ter) c.519C>G (p.Tyr173Ter) c.474C>G (p.Tyr158Ter) c.*55C>G (n.*55C>G) c.396C>G (p.Tyr132Ter) c.424+918C>G c.252C>G (p.Tyr84Ter) c.*329C>G (n.*329C>G) | |
X | g.48905474G>T | CA412895974 | SLC35A2 | c.435C>A (p.Tyr145Ter) c.355-582C>A (n.355-582C>A) c.427-582C>A (n.427-582C>A) c.212-215C>A c.219C>A (p.Tyr73Ter) c.519C>A (p.Tyr173Ter) c.474C>A (p.Tyr158Ter) c.*55C>A (n.*55C>A) c.396C>A (p.Tyr132Ter) c.424+918C>A c.252C>A (p.Tyr84Ter) c.*329C>A (n.*329C>A) | |
X | g.48905474_48905476delinsGTA | CA2428428982 | SLC35A2 | c.433_435delinsTAC (p.Tyr145=) c.355-584_355-582delinsTAC (n.355-584_355-582delinsTAC) c.427-584_427-582delinsTAC (n.427-584_427-582delinsTAC) c.212-217_212-215delinsTAC c.217_219delinsTAC (p.Tyr73=) c.517_519delinsTAC (p.Tyr173=) c.472_474delinsTAC (p.Tyr158=) c.*53_*55delinsTAC (n.*53_*55delinsTAC) c.394_396delinsTAC (p.Tyr132=) c.424+916_424+918delinsTAC c.250_252delinsTAC (p.Tyr84=) c.*327_*329delinsTAC (n.*327_*329delinsTAC) | |
X | g.48905475T>A | CA412895975 | SLC35A2 | c.434A>T (p.Tyr145Phe) c.355-583A>T (n.355-583A>T) c.427-583A>T (n.427-583A>T) c.212-216A>T c.218A>T (p.Tyr73Phe) c.518A>T (p.Tyr173Phe) c.473A>T (p.Tyr158Phe) c.*54A>T (n.*54A>T) c.395A>T (p.Tyr132Phe) c.424+917A>T c.251A>T (p.Tyr84Phe) c.*328A>T (n.*328A>T) | |
X | g.48905475T>C | CA412895976 | SLC35A2 | c.434A>G (p.Tyr145Cys) c.355-583A>G (n.355-583A>G) c.427-583A>G (n.427-583A>G) c.212-216A>G c.218A>G (p.Tyr73Cys) c.518A>G (p.Tyr173Cys) c.473A>G (p.Tyr158Cys) c.*54A>G (n.*54A>G) c.395A>G (p.Tyr132Cys) c.424+917A>G c.251A>G (p.Tyr84Cys) c.*328A>G (n.*328A>G) | |
X | g.48905475T>G | CA412895977 | SLC35A2 | c.434A>C (p.Tyr145Ser) c.355-583A>C (n.355-583A>C) c.427-583A>C (n.427-583A>C) c.212-216A>C c.218A>C (p.Tyr73Ser) c.518A>C (p.Tyr173Ser) c.473A>C (p.Tyr158Ser) c.*54A>C (n.*54A>C) c.395A>C (p.Tyr132Ser) c.424+917A>C c.251A>C (p.Tyr84Ser) c.*328A>C (n.*328A>C) | |
X | g.48905476_48905477del | CA163125 | SLC35A2 | c.433_434del (p.Tyr145ProfsTer?) c.355-584_355-583del (n.355-584_355-583del) c.427-584_427-583del (n.427-584_427-583del) c.212-217_212-216del c.217_218del (p.Tyr73ProfsTer?) c.517_518del (p.Tyr173ProfsTer?) c.472_473del (p.Tyr158ProfsTer?) c.*53_*54del (n.*53_*54del) c.394_395del (p.Tyr132ProfsTer?) c.424+916_424+917del c.250_251del (p.Tyr84ProfsTer?) c.*327_*328del (n.*327_*328del) | ClinVar dbSNP |
X | g.48905476A>C | CA412895980 | SLC35A2 | c.433T>G (p.Tyr145Asp) c.355-584T>G (n.355-584T>G) c.427-584T>G (n.427-584T>G) c.212-217T>G c.217T>G (p.Tyr73Asp) c.517T>G (p.Tyr173Asp) c.472T>G (p.Tyr158Asp) c.*53T>G (n.*53T>G) c.394T>G (p.Tyr132Asp) c.424+916T>G c.250T>G (p.Tyr84Asp) c.*327T>G (n.*327T>G) | |
X | g.48905476A>G | CA412895979 | SLC35A2 | c.433T>C (p.Tyr145His) c.355-584T>C (n.355-584T>C) c.427-584T>C (n.427-584T>C) c.212-217T>C c.217T>C (p.Tyr73His) c.517T>C (p.Tyr173His) c.472T>C (p.Tyr158His) c.*53T>C (n.*53T>C) c.394T>C (p.Tyr132His) c.424+916T>C c.250T>C (p.Tyr84His) c.*327T>C (n.*327T>C) | |
X | g.48905476A>T | CA412895978 | SLC35A2 | c.433T>A (p.Tyr145Asn) c.355-584T>A (n.355-584T>A) c.427-584T>A (n.427-584T>A) c.212-217T>A c.217T>A (p.Tyr73Asn) c.517T>A (p.Tyr173Asn) c.472T>A (p.Tyr158Asn) c.*53T>A (n.*53T>A) c.394T>A (p.Tyr132Asn) c.424+916T>A c.250T>A (p.Tyr84Asn) c.*327T>A (n.*327T>A) | |
X | g.48905477T>A | CA516360146 | SLC35A2 | c.432A>T (p.Thr144=) c.355-585A>T (n.355-585A>T) c.427-585A>T (n.427-585A>T) c.212-218A>T c.216A>T (p.Thr72=) c.516A>T (p.Thr172=) c.471A>T (p.Thr157=) c.*52A>T (n.*52A>T) c.393A>T (p.Thr131=) c.424+915A>T c.249A>T (p.Thr83=) c.*326A>T (n.*326A>T) | |
X | g.48905477T>C | CA516360147 | SLC35A2 | c.432A>G (p.Thr144=) c.355-585A>G (n.355-585A>G) c.427-585A>G (n.427-585A>G) c.212-218A>G c.216A>G (p.Thr72=) c.516A>G (p.Thr172=) c.471A>G (p.Thr157=) c.*52A>G (n.*52A>G) c.393A>G (p.Thr131=) c.424+915A>G c.249A>G (p.Thr83=) c.*326A>G (n.*326A>G) | |
X | g.48905477T>G | CA516360148 | SLC35A2 | c.432A>C (p.Thr144=) c.355-585A>C (n.355-585A>C) c.427-585A>C (n.427-585A>C) c.212-218A>C c.216A>C (p.Thr72=) c.516A>C (p.Thr172=) c.471A>C (p.Thr157=) c.*52A>C (n.*52A>C) c.393A>C (p.Thr131=) c.424+915A>C c.249A>C (p.Thr83=) c.*326A>C (n.*326A>C) | |
X | g.48905478del | CA2579602661 | SLC35A2 | c.431del (p.Thr144AsnfsTer4) c.355-586del (n.355-586del) c.427-586del (n.427-586del) c.212-219del c.215del (p.Thr72AsnfsTer4) c.515del (p.Thr172AsnfsTer4) c.470del (p.Thr157AsnfsTer4) c.*51del (n.*51del) c.392del (p.Thr131AsnfsTer4) c.424+914del c.248del (p.Thr83AsnfsTer4) c.*325del (n.*325del) | |
X | g.48905478G>A | CA412895981 | SLC35A2 | c.431C>T (p.Thr144Ile) c.355-586C>T (n.355-586C>T) c.427-586C>T (n.427-586C>T) c.212-219C>T c.215C>T (p.Thr72Ile) c.515C>T (p.Thr172Ile) c.470C>T (p.Thr157Ile) c.*51C>T (n.*51C>T) c.392C>T (p.Thr131Ile) c.424+914C>T c.248C>T (p.Thr83Ile) c.*325C>T (n.*325C>T) | gnomAD v4 |
X | g.48905478G>C | CA412895983 | SLC35A2 | c.431C>G (p.Thr144Arg) c.355-586C>G (n.355-586C>G) c.427-586C>G (n.427-586C>G) c.212-219C>G c.215C>G (p.Thr72Arg) c.515C>G (p.Thr172Arg) c.470C>G (p.Thr157Arg) c.*51C>G (n.*51C>G) c.392C>G (p.Thr131Arg) c.424+914C>G c.248C>G (p.Thr83Arg) c.*325C>G (n.*325C>G) | |
X | g.48905478G>T | CA412895982 | SLC35A2 | c.431C>A (p.Thr144Lys) c.355-586C>A (n.355-586C>A) c.427-586C>A (n.427-586C>A) c.212-219C>A c.215C>A (p.Thr72Lys) c.515C>A (p.Thr172Lys) c.470C>A (p.Thr157Lys) c.*51C>A (n.*51C>A) c.392C>A (p.Thr131Lys) c.424+914C>A c.248C>A (p.Thr83Lys) c.*325C>A (n.*325C>A) | |
X | g.48905479T>A | CA412895984 | SLC35A2 | c.430A>T (p.Thr144Ser) c.355-587A>T (n.355-587A>T) c.427-587A>T (n.427-587A>T) c.212-220A>T c.214A>T (p.Thr72Ser) c.514A>T (p.Thr172Ser) c.469A>T (p.Thr157Ser) c.*50A>T (n.*50A>T) c.391A>T (p.Thr131Ser) c.424+913A>T c.247A>T (p.Thr83Ser) c.*324A>T (n.*324A>T) | |
X | g.48905479T>C | CA412895986 | SLC35A2 | c.430A>G (p.Thr144Ala) c.355-587A>G (n.355-587A>G) c.427-587A>G (n.427-587A>G) c.212-220A>G c.214A>G (p.Thr72Ala) c.514A>G (p.Thr172Ala) c.469A>G (p.Thr157Ala) c.*50A>G (n.*50A>G) c.391A>G (p.Thr131Ala) c.424+913A>G c.247A>G (p.Thr83Ala) c.*324A>G (n.*324A>G) | |
X | g.48905479T>G | CA412895985 | SLC35A2 | c.430A>C (p.Thr144Pro) c.355-587A>C (n.355-587A>C) c.427-587A>C (n.427-587A>C) c.212-220A>C c.214A>C (p.Thr72Pro) c.514A>C (p.Thr172Pro) c.469A>C (p.Thr157Pro) c.*50A>C (n.*50A>C) c.391A>C (p.Thr131Pro) c.424+913A>C c.247A>C (p.Thr83Pro) c.*324A>C (n.*324A>C) | |
X | g.48905480C>A | CA516360151 | SLC35A2 | c.429G>T (p.Val143=) c.355-588G>T (n.355-588G>T) c.427-588G>T (n.427-588G>T) c.212-221G>T c.213G>T (p.Val71=) c.513G>T (p.Val171=) c.468G>T (p.Val156=) c.*49G>T (n.*49G>T) c.390G>T (p.Val130=) c.424+912G>T c.246G>T (p.Val82=) c.*323G>T (n.*323G>T) | gnomAD v4 |
X | g.48905480C= | CA2428428983 | SLC35A2 | c.429G= (p.Val143=) c.355-588G= (n.355-588G=) c.427-588G= (n.427-588G=) c.212-221G= c.213G= (p.Val71=) c.513G= (p.Val171=) c.468G= (p.Val156=) c.*49G= (n.*49G=) c.390G= (p.Val130=) c.424+912G= c.246G= (p.Val82=) c.*323G= (n.*323G=) | |
X | g.48905480C>G | CA516360152 | SLC35A2 | c.429G>C (p.Val143=) c.355-588G>C (n.355-588G>C) c.427-588G>C (n.427-588G>C) c.212-221G>C c.213G>C (p.Val71=) c.513G>C (p.Val171=) c.468G>C (p.Val156=) c.*49G>C (n.*49G>C) c.390G>C (p.Val130=) c.424+912G>C c.246G>C (p.Val82=) c.*323G>C (n.*323G>C) | |
X | g.48905480C>T | CA10406131 | SLC35A2 | c.429G>A (p.Val143=) c.355-588G>A (n.355-588G>A) c.427-588G>A (n.427-588G>A) c.212-221G>A c.213G>A (p.Val71=) c.513G>A (p.Val171=) c.468G>A (p.Val156=) c.*49G>A (n.*49G>A) c.390G>A (p.Val130=) c.424+912G>A c.246G>A (p.Val82=) c.*323G>A (n.*323G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905481A>C | CA412895987 | SLC35A2 | c.428T>G (p.Val143Gly) c.355-589T>G (n.355-589T>G) c.427-589T>G (n.427-589T>G) c.212-222T>G c.212T>G (p.Val71Gly) c.512T>G (p.Val171Gly) c.467T>G (p.Val156Gly) c.*48T>G (n.*48T>G) c.389T>G (p.Val130Gly) c.424+911T>G c.245T>G (p.Val82Gly) c.*322T>G (n.*322T>G) | |
X | g.48905481A>G | CA412895988 | SLC35A2 | c.428T>C (p.Val143Ala) c.355-589T>C (n.355-589T>C) c.427-589T>C (n.427-589T>C) c.212-222T>C c.212T>C (p.Val71Ala) c.512T>C (p.Val171Ala) c.467T>C (p.Val156Ala) c.*48T>C (n.*48T>C) c.389T>C (p.Val130Ala) c.424+911T>C c.245T>C (p.Val82Ala) c.*322T>C (n.*322T>C) | gnomAD v4 |
X | g.48905481A>T | CA412895989 | SLC35A2 | c.428T>A (p.Val143Glu) c.355-589T>A (n.355-589T>A) c.427-589T>A (n.427-589T>A) c.212-222T>A c.212T>A (p.Val71Glu) c.512T>A (p.Val171Glu) c.467T>A (p.Val156Glu) c.*48T>A (n.*48T>A) c.389T>A (p.Val130Glu) c.424+911T>A c.245T>A (p.Val82Glu) c.*322T>A (n.*322T>A) | |
X | g.48905482C>A | CA412895990 | SLC35A2 | c.427G>T (p.Val143Leu) c.355-590G>T (n.355-590G>T) c.427-590G>T (n.427-590G>T) c.212-223G>T c.211G>T (p.Val71Leu) c.511G>T (p.Val171Leu) c.466G>T (p.Val156Leu) c.*47G>T (n.*47G>T) c.388G>T (p.Val130Leu) c.424+910G>T c.244G>T (p.Val82Leu) c.*321G>T (n.*321G>T) | |
X | g.48905482C>G | CA412895991 | SLC35A2 | c.427G>C (p.Val143Leu) c.355-590G>C (n.355-590G>C) c.427-590G>C (n.427-590G>C) c.212-223G>C c.211G>C (p.Val71Leu) c.511G>C (p.Val171Leu) c.466G>C (p.Val156Leu) c.*47G>C (n.*47G>C) c.388G>C (p.Val130Leu) c.424+910G>C c.244G>C (p.Val82Leu) c.*321G>C (n.*321G>C) | |
X | g.48905482C>T | CA412895992 | SLC35A2 | c.427G>A (p.Val143Met) c.355-590G>A (n.355-590G>A) c.427-590G>A (n.427-590G>A) c.212-223G>A c.211G>A (p.Val71Met) c.511G>A (p.Val171Met) c.466G>A (p.Val156Met) c.*47G>A (n.*47G>A) c.388G>A (p.Val130Met) c.424+910G>A c.244G>A (p.Val82Met) c.*321G>A (n.*321G>A) | |
X | g.48905483C>A | CA412895993 | SLC35A2 | c.427-1G>T (n.427-1G>T) c.355-591G>T (n.355-591G>T) c.427-591G>T (n.427-591G>T) c.212-224G>T c.211-1G>T (n.211-1G>T) c.511-1G>T (n.511-1G>T) c.466-1G>T (n.466-1G>T) c.*47-1G>T (n.*47-1G>T) c.388-1G>T (n.388-1G>T) c.424+909G>T c.244-1G>T (n.244-1G>T) c.*321-1G>T (n.*321-1G>T) | |
X | g.48905483C>G | CA412895994 | SLC35A2 | c.427-1G>C (n.427-1G>C) c.355-591G>C (n.355-591G>C) c.427-591G>C (n.427-591G>C) c.212-224G>C c.211-1G>C (n.211-1G>C) c.511-1G>C (n.511-1G>C) c.466-1G>C (n.466-1G>C) c.*47-1G>C (n.*47-1G>C) c.388-1G>C (n.388-1G>C) c.424+909G>C c.244-1G>C (n.244-1G>C) c.*321-1G>C (n.*321-1G>C) | |
X | g.48905483C>T | CA412895995 | SLC35A2 | c.427-1G>A (n.427-1G>A) c.355-591G>A (n.355-591G>A) c.427-591G>A (n.427-591G>A) c.212-224G>A c.211-1G>A (n.211-1G>A) c.511-1G>A (n.511-1G>A) c.466-1G>A (n.466-1G>A) c.*47-1G>A (n.*47-1G>A) c.388-1G>A (n.388-1G>A) c.424+909G>A c.244-1G>A (n.244-1G>A) c.*321-1G>A (n.*321-1G>A) | |
X | g.48905484T>A | CA412895996 | SLC35A2 | c.427-2A>T (n.427-2A>T) c.355-592A>T (n.355-592A>T) c.427-592A>T (n.427-592A>T) c.212-225A>T c.211-2A>T (n.211-2A>T) c.511-2A>T (n.511-2A>T) c.466-2A>T (n.466-2A>T) c.*47-2A>T (n.*47-2A>T) c.388-2A>T (n.388-2A>T) c.424+908A>T c.244-2A>T (n.244-2A>T) c.*321-2A>T (n.*321-2A>T) | |
X | g.48905484T>C | CA412895997 | SLC35A2 | c.427-2A>G (n.427-2A>G) c.355-592A>G (n.355-592A>G) c.427-592A>G (n.427-592A>G) c.212-225A>G c.211-2A>G (n.211-2A>G) c.511-2A>G (n.511-2A>G) c.466-2A>G (n.466-2A>G) c.*47-2A>G (n.*47-2A>G) c.388-2A>G (n.388-2A>G) c.424+908A>G c.244-2A>G (n.244-2A>G) c.*321-2A>G (n.*321-2A>G) | gnomAD v4 |
X | g.48905484T>G | CA412895998 | SLC35A2 | c.427-2A>C (n.427-2A>C) c.355-592A>C (n.355-592A>C) c.427-592A>C (n.427-592A>C) c.212-225A>C c.211-2A>C (n.211-2A>C) c.511-2A>C (n.511-2A>C) c.466-2A>C (n.466-2A>C) c.*47-2A>C (n.*47-2A>C) c.388-2A>C (n.388-2A>C) c.424+908A>C c.244-2A>C (n.244-2A>C) c.*321-2A>C (n.*321-2A>C) | |
X | g.48905486C>A | CA2693659768 | SLC35A2 | c.427-4G>T (n.427-4G>T) c.355-594G>T (n.355-594G>T) c.427-594G>T (n.427-594G>T) c.212-227G>T c.211-4G>T (n.211-4G>T) c.511-4G>T (n.511-4G>T) c.466-4G>T (n.466-4G>T) c.*47-4G>T (n.*47-4G>T) c.388-4G>T (n.388-4G>T) c.424+906G>T c.244-4G>T (n.244-4G>T) c.*321-4G>T (n.*321-4G>T) | gnomAD v4 |
X | g.48905486C= | CA2428428984 | SLC35A2 | c.427-4G= (n.427-4G=) c.355-594G= (n.355-594G=) c.427-594G= (n.427-594G=) c.212-227G= c.211-4G= (n.211-4G=) c.511-4G= (n.511-4G=) c.466-4G= (n.466-4G=) c.*47-4G= (n.*47-4G=) c.388-4G= (n.388-4G=) c.424+906G= c.244-4G= (n.244-4G=) c.*321-4G= (n.*321-4G=) | |
X | g.48905486C>T | CA10406132 | SLC35A2 | c.427-4G>A (n.427-4G>A) c.355-594G>A (n.355-594G>A) c.427-594G>A (n.427-594G>A) c.212-227G>A c.211-4G>A (n.211-4G>A) c.511-4G>A (n.511-4G>A) c.466-4G>A (n.466-4G>A) c.*47-4G>A (n.*47-4G>A) c.388-4G>A (n.388-4G>A) c.424+906G>A c.244-4G>A (n.244-4G>A) c.*321-4G>A (n.*321-4G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.48905487G>A | CA641902151 | SLC35A2 | c.427-5C>T (n.427-5C>T) c.355-595C>T (n.355-595C>T) c.427-595C>T (n.427-595C>T) c.212-228C>T c.211-5C>T (n.211-5C>T) c.511-5C>T (n.511-5C>T) c.466-5C>T (n.466-5C>T) c.*47-5C>T (n.*47-5C>T) c.388-5C>T (n.388-5C>T) c.424+905C>T c.244-5C>T (n.244-5C>T) c.*321-5C>T (n.*321-5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905487G= | CA2428428985 | SLC35A2 | c.427-5C= (n.427-5C=) c.355-595C= (n.355-595C=) c.427-595C= (n.427-595C=) c.212-228C= c.211-5C= (n.211-5C=) c.511-5C= (n.511-5C=) c.466-5C= (n.466-5C=) c.*47-5C= (n.*47-5C=) c.388-5C= (n.388-5C=) c.424+905C= c.244-5C= (n.244-5C=) c.*321-5C= (n.*321-5C=) | |
X | g.48905489G>C | CA2557722797 | SLC35A2 | c.427-7C>G (n.427-7C>G) c.355-597C>G (n.355-597C>G) c.427-597C>G (n.427-597C>G) c.212-230C>G c.211-7C>G (n.211-7C>G) c.511-7C>G (n.511-7C>G) c.466-7C>G (n.466-7C>G) c.*47-7C>G (n.*47-7C>G) c.388-7C>G (n.388-7C>G) c.424+903C>G c.244-7C>G (n.244-7C>G) c.*321-7C>G (n.*321-7C>G) | |
X | g.48905490T>A | CA2559658251 | SLC35A2 | c.427-8A>T (n.427-8A>T) c.355-598A>T (n.355-598A>T) c.427-598A>T (n.427-598A>T) c.212-231A>T c.211-8A>T (n.211-8A>T) c.511-8A>T (n.511-8A>T) c.466-8A>T (n.466-8A>T) c.*47-8A>T (n.*47-8A>T) c.388-8A>T (n.388-8A>T) c.424+902A>T c.244-8A>T (n.244-8A>T) c.*321-8A>T (n.*321-8A>T) | |
X | g.48905490T>C | CA2548998479 | SLC35A2 | c.427-8A>G (n.427-8A>G) c.355-598A>G (n.355-598A>G) c.427-598A>G (n.427-598A>G) c.212-231A>G c.211-8A>G (n.211-8A>G) c.511-8A>G (n.511-8A>G) c.466-8A>G (n.466-8A>G) c.*47-8A>G (n.*47-8A>G) c.388-8A>G (n.388-8A>G) c.424+902A>G c.244-8A>G (n.244-8A>G) c.*321-8A>G (n.*321-8A>G) | |
X | g.48905491G>A | CA2693659774 | SLC35A2 | c.427-9C>T (n.427-9C>T) c.355-599C>T (n.355-599C>T) c.427-599C>T (n.427-599C>T) c.212-232C>T c.211-9C>T (n.211-9C>T) c.511-9C>T (n.511-9C>T) c.466-9C>T (n.466-9C>T) c.*47-9C>T (n.*47-9C>T) c.388-9C>T (n.388-9C>T) c.424+901C>T c.244-9C>T (n.244-9C>T) c.*321-9C>T (n.*321-9C>T) | gnomAD v4 |
X | g.48905491G>T | CA2693659776 | SLC35A2 | c.427-9C>A (n.427-9C>A) c.355-599C>A (n.355-599C>A) c.427-599C>A (n.427-599C>A) c.212-232C>A c.211-9C>A (n.211-9C>A) c.511-9C>A (n.511-9C>A) c.466-9C>A (n.466-9C>A) c.*47-9C>A (n.*47-9C>A) c.388-9C>A (n.388-9C>A) c.424+901C>A c.244-9C>A (n.244-9C>A) c.*321-9C>A (n.*321-9C>A) | gnomAD v4 |
X | g.48905492G>A | CA2693659777 | SLC35A2 | c.427-10C>T (n.427-10C>T) c.355-600C>T (n.355-600C>T) c.427-600C>T (n.427-600C>T) c.212-233C>T c.211-10C>T (n.211-10C>T) c.511-10C>T (n.511-10C>T) c.466-10C>T (n.466-10C>T) c.*47-10C>T (n.*47-10C>T) c.388-10C>T (n.388-10C>T) c.424+900C>T c.244-10C>T (n.244-10C>T) c.*321-10C>T (n.*321-10C>T) | gnomAD v4 |
X | g.48905495C>A | CA2693659780 | SLC35A2 | c.427-13G>T (n.427-13G>T) c.355-603G>T (n.355-603G>T) c.427-603G>T (n.427-603G>T) c.212-236G>T c.211-13G>T (n.211-13G>T) c.511-13G>T (n.511-13G>T) c.466-13G>T (n.466-13G>T) c.*47-13G>T (n.*47-13G>T) c.388-13G>T (n.388-13G>T) c.424+897G>T c.244-13G>T (n.244-13G>T) c.*321-13G>T (n.*321-13G>T) | gnomAD v4 |
X | g.48905495C= | CA2428428986 | SLC35A2 | c.427-13G= (n.427-13G=) c.355-603G= (n.355-603G=) c.427-603G= (n.427-603G=) c.212-236G= c.211-13G= (n.211-13G=) c.511-13G= (n.511-13G=) c.466-13G= (n.466-13G=) c.*47-13G= (n.*47-13G=) c.388-13G= (n.388-13G=) c.424+897G= c.244-13G= (n.244-13G=) c.*321-13G= (n.*321-13G=) | |
X | g.48905495C>T | CA10406133 | SLC35A2 | c.427-13G>A (n.427-13G>A) c.355-603G>A (n.355-603G>A) c.427-603G>A (n.427-603G>A) c.212-236G>A c.211-13G>A (n.211-13G>A) c.511-13G>A (n.511-13G>A) c.466-13G>A (n.466-13G>A) c.*47-13G>A (n.*47-13G>A) c.388-13G>A (n.388-13G>A) c.424+897G>A c.244-13G>A (n.244-13G>A) c.*321-13G>A (n.*321-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905495_48905496del | CA2521243826 | SLC35A2 | c.427-14_427-13del (n.427-14_427-13del) c.355-604_355-603del (n.355-604_355-603del) c.427-604_427-603del (n.427-604_427-603del) c.212-237_212-236del c.211-14_211-13del (n.211-14_211-13del) c.511-14_511-13del (n.511-14_511-13del) c.466-14_466-13del (n.466-14_466-13del) c.*47-14_*47-13del (n.*47-14_*47-13del) c.388-14_388-13del (n.388-14_388-13del) c.424+896_424+897del c.244-14_244-13del (n.244-14_244-13del) c.*321-14_*321-13del (n.*321-14_*321-13del) | |
X | g.48905496G>A | CA10406134 | SLC35A2 | c.427-14C>T (n.427-14C>T) c.355-604C>T (n.355-604C>T) c.427-604C>T (n.427-604C>T) c.212-237C>T c.211-14C>T (n.211-14C>T) c.511-14C>T (n.511-14C>T) c.466-14C>T (n.466-14C>T) c.*47-14C>T (n.*47-14C>T) c.388-14C>T (n.388-14C>T) c.424+896C>T c.244-14C>T (n.244-14C>T) c.*321-14C>T (n.*321-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905496G= | CA2428428987 | SLC35A2 | c.427-14C= (n.427-14C=) c.355-604C= (n.355-604C=) c.427-604C= (n.427-604C=) c.212-237C= c.211-14C= (n.211-14C=) c.511-14C= (n.511-14C=) c.466-14C= (n.466-14C=) c.*47-14C= (n.*47-14C=) c.388-14C= (n.388-14C=) c.424+896C= c.244-14C= (n.244-14C=) c.*321-14C= (n.*321-14C=) |