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.48905295G>A | CA412895591 | SLC35A2 | c.614C>T (p.Ala205Val) c.355-403C>T (n.355-403C>T) c.427-403C>T (n.427-403C>T) c.212-36C>T c.398C>T (p.Ala133Val) c.698C>T (p.Ala233Val) c.653C>T (p.Ala218Val) c.424+1097C>T c.431C>T (p.Ala144Val) c.*508C>T (n.*508C>T) | gnomAD v4 |
X | g.48905295G>C | CA412895593 | SLC35A2 | c.614C>G (p.Ala205Gly) c.355-403C>G (n.355-403C>G) c.427-403C>G (n.427-403C>G) c.212-36C>G c.398C>G (p.Ala133Gly) c.698C>G (p.Ala233Gly) c.653C>G (p.Ala218Gly) c.424+1097C>G c.431C>G (p.Ala144Gly) c.*508C>G (n.*508C>G) | |
X | g.48905295G>T | CA412895592 | SLC35A2 | c.614C>A (p.Ala205Asp) c.355-403C>A (n.355-403C>A) c.427-403C>A (n.427-403C>A) c.212-36C>A c.398C>A (p.Ala133Asp) c.698C>A (p.Ala233Asp) c.653C>A (p.Ala218Asp) c.424+1097C>A c.431C>A (p.Ala144Asp) c.*508C>A (n.*508C>A) | |
X | g.48905296C>A | CA412895594 | SLC35A2 | c.613G>T (p.Ala205Ser) c.355-404G>T (n.355-404G>T) c.427-404G>T (n.427-404G>T) c.212-37G>T c.397G>T (p.Ala133Ser) c.697G>T (p.Ala233Ser) c.652G>T (p.Ala218Ser) c.574G>T c.424+1096G>T c.430G>T (p.Ala144Ser) c.*507G>T (n.*507G>T) | |
X | g.48905296C>G | CA412895595 | SLC35A2 | c.613G>C (p.Ala205Pro) c.355-404G>C (n.355-404G>C) c.427-404G>C (n.427-404G>C) c.212-37G>C c.397G>C (p.Ala133Pro) c.697G>C (p.Ala233Pro) c.652G>C (p.Ala218Pro) c.574G>C c.424+1096G>C c.430G>C (p.Ala144Pro) c.*507G>C (n.*507G>C) | |
X | g.48905296C>T | CA412895596 | SLC35A2 | c.613G>A (p.Ala205Thr) c.355-404G>A (n.355-404G>A) c.427-404G>A (n.427-404G>A) c.212-37G>A c.397G>A (p.Ala133Thr) c.697G>A (p.Ala233Thr) c.652G>A (p.Ala218Thr) c.574G>A c.424+1096G>A c.430G>A (p.Ala144Thr) c.*507G>A (n.*507G>A) | |
X | g.48905297T>A | CA516360218 | SLC35A2 | c.612A>T (p.Ala204=) c.355-405A>T (n.355-405A>T) c.427-405A>T (n.427-405A>T) c.212-38A>T c.396A>T (p.Ala132=) c.696A>T (p.Ala232=) c.651A>T (p.Ala217=) c.573A>T (p.Ala191=) c.424+1095A>T c.429A>T (p.Ala143=) c.*506A>T (n.*506A>T) | gnomAD v4 |
X | g.48905297T>C | CA516360219 | SLC35A2 | c.612A>G (p.Ala204=) c.355-405A>G (n.355-405A>G) c.427-405A>G (n.427-405A>G) c.212-38A>G c.396A>G (p.Ala132=) c.696A>G (p.Ala232=) c.651A>G (p.Ala217=) c.573A>G (p.Ala191=) c.424+1095A>G c.429A>G (p.Ala143=) c.*506A>G (n.*506A>G) | |
X | g.48905297T>G | CA516360220 | SLC35A2 | c.612A>C (p.Ala204=) c.355-405A>C (n.355-405A>C) c.427-405A>C (n.427-405A>C) c.212-38A>C c.396A>C (p.Ala132=) c.696A>C (p.Ala232=) c.651A>C (p.Ala217=) c.573A>C (p.Ala191=) c.424+1095A>C c.429A>C (p.Ala143=) c.*506A>C (n.*506A>C) | |
X | g.48905298G>A | CA412895597 | SLC35A2 | c.611C>T (p.Ala204Val) c.355-406C>T (n.355-406C>T) c.427-406C>T (n.427-406C>T) c.212-39C>T c.395C>T (p.Ala132Val) c.695C>T (p.Ala232Val) c.650C>T (p.Ala217Val) c.572C>T (p.Ala191Val) c.424+1094C>T c.428C>T (p.Ala143Val) c.*505C>T (n.*505C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.48905298G>C | CA412895598 | SLC35A2 | c.611C>G (p.Ala204Gly) c.355-406C>G (n.355-406C>G) c.427-406C>G (n.427-406C>G) c.212-39C>G c.395C>G (p.Ala132Gly) c.695C>G (p.Ala232Gly) c.650C>G (p.Ala217Gly) c.572C>G (p.Ala191Gly) c.424+1094C>G c.428C>G (p.Ala143Gly) c.*505C>G (n.*505C>G) | |
X | g.48905298G= | CA2428428927 | SLC35A2 | c.611C= (p.Ala204=) c.355-406C= (n.355-406C=) c.427-406C= (n.427-406C=) c.212-39C= c.395C= (p.Ala132=) c.695C= (p.Ala232=) c.650C= (p.Ala217=) c.572C= (p.Ala191=) c.424+1094C= c.428C= (p.Ala143=) c.*505C= (n.*505C=) | |
X | g.48905298G>T | CA412895599 | SLC35A2 | c.611C>A (p.Ala204Glu) c.355-406C>A (n.355-406C>A) c.427-406C>A (n.427-406C>A) c.212-39C>A c.395C>A (p.Ala132Glu) c.695C>A (p.Ala232Glu) c.650C>A (p.Ala217Glu) c.572C>A (p.Ala191Glu) c.424+1094C>A c.428C>A (p.Ala143Glu) c.*505C>A (n.*505C>A) | gnomAD v4 |
X | g.48905299C>A | CA412895600 | SLC35A2 | c.610G>T (p.Ala204Ser) c.355-407G>T (n.355-407G>T) c.427-407G>T (n.427-407G>T) c.212-40G>T c.394G>T (p.Ala132Ser) c.694G>T (p.Ala232Ser) c.649G>T (p.Ala217Ser) c.571G>T (p.Ala191Ser) c.424+1093G>T c.427G>T (p.Ala143Ser) c.*504G>T (n.*504G>T) | gnomAD v4 |
X | g.48905299C>G | CA412895601 | SLC35A2 | c.610G>C (p.Ala204Pro) c.355-407G>C (n.355-407G>C) c.427-407G>C (n.427-407G>C) c.212-40G>C c.394G>C (p.Ala132Pro) c.694G>C (p.Ala232Pro) c.649G>C (p.Ala217Pro) c.571G>C (p.Ala191Pro) c.424+1093G>C c.427G>C (p.Ala143Pro) c.*504G>C (n.*504G>C) | |
X | g.48905299C>T | CA412895602 | SLC35A2 | c.610G>A (p.Ala204Thr) c.355-407G>A (n.355-407G>A) c.427-407G>A (n.427-407G>A) c.212-40G>A c.394G>A (p.Ala132Thr) c.694G>A (p.Ala232Thr) c.649G>A (p.Ala217Thr) c.571G>A (p.Ala191Thr) c.424+1093G>A c.427G>A (p.Ala143Thr) c.*504G>A (n.*504G>A) | ClinVar dbSNP |
X | g.48905300C>A | CA516360224 | SLC35A2 | c.609G>T (p.Leu203=) c.355-408G>T (n.355-408G>T) c.427-408G>T (n.427-408G>T) c.212-41G>T c.393G>T (p.Leu131=) c.693G>T (p.Leu231=) c.648G>T (p.Leu216=) c.570G>T (p.Leu190=) c.424+1092G>T c.426G>T (p.Leu142=) c.*503G>T (n.*503G>T) | gnomAD v4 |
X | g.48905300C>G | CA516360225 | SLC35A2 | c.609G>C (p.Leu203=) c.355-408G>C (n.355-408G>C) c.427-408G>C (n.427-408G>C) c.212-41G>C c.393G>C (p.Leu131=) c.693G>C (p.Leu231=) c.648G>C (p.Leu216=) c.570G>C (p.Leu190=) c.424+1092G>C c.426G>C (p.Leu142=) c.*503G>C (n.*503G>C) | |
X | g.48905300C>T | CA516360226 | SLC35A2 | c.609G>A (p.Leu203=) c.355-408G>A (n.355-408G>A) c.427-408G>A (n.427-408G>A) c.212-41G>A c.393G>A (p.Leu131=) c.693G>A (p.Leu231=) c.648G>A (p.Leu216=) c.570G>A (p.Leu190=) c.424+1092G>A c.426G>A (p.Leu142=) c.*503G>A (n.*503G>A) | |
X | g.48905301A>C | CA412895603 | SLC35A2 | c.608T>G (p.Leu203Arg) c.355-409T>G (n.355-409T>G) c.427-409T>G (n.427-409T>G) c.212-42T>G c.392T>G (p.Leu131Arg) c.692T>G (p.Leu231Arg) c.647T>G (p.Leu216Arg) c.569T>G (p.Leu190Arg) c.424+1091T>G c.425T>G (p.Leu142Arg) c.*502T>G (n.*502T>G) | |
X | g.48905301A>G | CA412895604 | SLC35A2 | c.608T>C (p.Leu203Pro) c.355-409T>C (n.355-409T>C) c.427-409T>C (n.427-409T>C) c.212-42T>C c.392T>C (p.Leu131Pro) c.692T>C (p.Leu231Pro) c.647T>C (p.Leu216Pro) c.569T>C (p.Leu190Pro) c.424+1091T>C c.425T>C (p.Leu142Pro) c.*502T>C (n.*502T>C) | |
X | g.48905301A>T | CA412895605 | SLC35A2 | c.608T>A (p.Leu203Gln) c.355-409T>A (n.355-409T>A) c.427-409T>A (n.427-409T>A) c.212-42T>A c.392T>A (p.Leu131Gln) c.692T>A (p.Leu231Gln) c.647T>A (p.Leu216Gln) c.569T>A (p.Leu190Gln) c.424+1091T>A c.425T>A (p.Leu142Gln) c.*502T>A (n.*502T>A) | |
X | g.48905302G>A | CA516360227 | SLC35A2 | c.607C>T (p.Leu203=) c.355-410C>T (n.355-410C>T) c.427-410C>T (n.427-410C>T) c.212-43C>T c.391C>T (p.Leu131=) c.691C>T (p.Leu231=) c.646C>T (p.Leu216=) c.568C>T (p.Leu190=) c.424+1090C>T c.424C>T (p.Leu142=) c.*501C>T (n.*501C>T) | |
X | g.48905302G>C | CA412895607 | SLC35A2 | c.607C>G (p.Leu203Val) c.355-410C>G (n.355-410C>G) c.427-410C>G (n.427-410C>G) c.212-43C>G c.391C>G (p.Leu131Val) c.691C>G (p.Leu231Val) c.646C>G (p.Leu216Val) c.568C>G (p.Leu190Val) c.424+1090C>G c.424C>G (p.Leu142Val) c.*501C>G (n.*501C>G) | |
X | g.48905302G>T | CA412895606 | SLC35A2 | c.607C>A (p.Leu203Met) c.355-410C>A (n.355-410C>A) c.427-410C>A (n.427-410C>A) c.212-43C>A c.391C>A (p.Leu131Met) c.691C>A (p.Leu231Met) c.646C>A (p.Leu216Met) c.568C>A (p.Leu190Met) c.424+1090C>A c.424C>A (p.Leu142Met) c.*501C>A (n.*501C>A) | gnomAD v4 |
X | g.48905303G>A | CA516360228 | SLC35A2 | c.606C>T (p.Gly202=) c.355-411C>T (n.355-411C>T) c.427-411C>T (n.427-411C>T) c.212-44C>T c.390C>T (p.Gly130=) c.690C>T (p.Gly230=) c.645C>T (p.Gly215=) c.567C>T (p.Gly189=) c.424+1089C>T c.423C>T (p.Gly141=) c.*500C>T (n.*500C>T) | |
X | g.48905303G>C | CA516360229 | SLC35A2 | c.606C>G (p.Gly202=) c.355-411C>G (n.355-411C>G) c.427-411C>G (n.427-411C>G) c.212-44C>G c.390C>G (p.Gly130=) c.690C>G (p.Gly230=) c.645C>G (p.Gly215=) c.567C>G (p.Gly189=) c.424+1089C>G c.423C>G (p.Gly141=) c.*500C>G (n.*500C>G) | |
X | g.48905303G>T | CA516360230 | SLC35A2 | c.606C>A (p.Gly202=) c.355-411C>A (n.355-411C>A) c.427-411C>A (n.427-411C>A) c.212-44C>A c.390C>A (p.Gly130=) c.690C>A (p.Gly230=) c.645C>A (p.Gly215=) c.567C>A (p.Gly189=) c.424+1089C>A c.423C>A (p.Gly141=) c.*500C>A (n.*500C>A) | |
X | g.48905304C>A | CA412895608 | SLC35A2 | c.605G>T (p.Gly202Val) c.355-412G>T (n.355-412G>T) c.427-412G>T (n.427-412G>T) c.212-45G>T c.389G>T (p.Gly130Val) c.689G>T (p.Gly230Val) c.644G>T (p.Gly215Val) c.566G>T (p.Gly189Val) c.424+1088G>T c.422G>T (p.Gly141Val) c.*499G>T (n.*499G>T) | gnomAD v4 |
X | g.48905304C>G | CA412895610 | SLC35A2 | c.605G>C (p.Gly202Ala) c.355-412G>C (n.355-412G>C) c.427-412G>C (n.427-412G>C) c.212-45G>C c.389G>C (p.Gly130Ala) c.689G>C (p.Gly230Ala) c.644G>C (p.Gly215Ala) c.566G>C (p.Gly189Ala) c.424+1088G>C c.422G>C (p.Gly141Ala) c.*499G>C (n.*499G>C) | |
X | g.48905304C>T | CA412895609 | SLC35A2 | c.605G>A (p.Gly202Asp) c.355-412G>A (n.355-412G>A) c.427-412G>A (n.427-412G>A) c.212-45G>A c.389G>A (p.Gly130Asp) c.689G>A (p.Gly230Asp) c.644G>A (p.Gly215Asp) c.566G>A (p.Gly189Asp) c.424+1088G>A c.422G>A (p.Gly141Asp) c.*499G>A (n.*499G>A) | |
X | g.48905305C>A | CA412895611 | SLC35A2 | c.604G>T (p.Gly202Cys) c.355-413G>T (n.355-413G>T) c.427-413G>T (n.427-413G>T) c.212-46G>T c.388G>T (p.Gly130Cys) c.688G>T (p.Gly230Cys) c.643G>T (p.Gly215Cys) c.565G>T (p.Gly189Cys) c.424+1087G>T c.421G>T (p.Gly141Cys) c.*498G>T (n.*498G>T) | gnomAD v4 |
X | g.48905305C>G | CA412895613 | SLC35A2 | c.604G>C (p.Gly202Arg) c.355-413G>C (n.355-413G>C) c.427-413G>C (n.427-413G>C) c.212-46G>C c.388G>C (p.Gly130Arg) c.688G>C (p.Gly230Arg) c.643G>C (p.Gly215Arg) c.565G>C (p.Gly189Arg) c.424+1087G>C c.421G>C (p.Gly141Arg) c.*498G>C (n.*498G>C) | |
X | g.48905305C>T | CA412895612 | SLC35A2 | c.604G>A (p.Gly202Ser) c.355-413G>A (n.355-413G>A) c.427-413G>A (n.427-413G>A) c.212-46G>A c.388G>A (p.Gly130Ser) c.688G>A (p.Gly230Ser) c.643G>A (p.Gly215Ser) c.565G>A (p.Gly189Ser) c.424+1087G>A c.421G>A (p.Gly141Ser) c.*498G>A (n.*498G>A) | gnomAD v4 |
X | g.48905306T>A | CA516360232 | SLC35A2 | c.603A>T (p.Ala201=) c.355-414A>T (n.355-414A>T) c.427-414A>T (n.427-414A>T) c.212-47A>T c.387A>T (p.Ala129=) c.687A>T (p.Ala229=) c.642A>T (p.Ala214=) c.564A>T (p.Ala188=) c.424+1086A>T c.420A>T (p.Ala140=) c.*497A>T (n.*497A>T) | |
X | g.48905306T>C | CA516360233 | SLC35A2 | c.603A>G (p.Ala201=) c.355-414A>G (n.355-414A>G) c.427-414A>G (n.427-414A>G) c.212-47A>G c.387A>G (p.Ala129=) c.687A>G (p.Ala229=) c.642A>G (p.Ala214=) c.564A>G (p.Ala188=) c.424+1086A>G c.420A>G (p.Ala140=) c.*497A>G (n.*497A>G) | |
X | g.48905306T>G | CA516360234 | SLC35A2 | c.603A>C (p.Ala201=) c.355-414A>C (n.355-414A>C) c.427-414A>C (n.427-414A>C) c.212-47A>C c.387A>C (p.Ala129=) c.687A>C (p.Ala229=) c.642A>C (p.Ala214=) c.564A>C (p.Ala188=) c.424+1086A>C c.420A>C (p.Ala140=) c.*497A>C (n.*497A>C) | |
X | g.48905307G>A | CA412895614 | SLC35A2 | c.602C>T (p.Ala201Val) c.355-415C>T (n.355-415C>T) c.427-415C>T (n.427-415C>T) c.212-48C>T c.386C>T (p.Ala129Val) c.686C>T (p.Ala229Val) c.641C>T (p.Ala214Val) c.563C>T (p.Ala188Val) c.424+1085C>T c.419C>T (p.Ala140Val) c.*496C>T (n.*496C>T) | |
X | g.48905307G>C | CA412895616 | SLC35A2 | c.602C>G (p.Ala201Gly) c.355-415C>G (n.355-415C>G) c.427-415C>G (n.427-415C>G) c.212-48C>G c.386C>G (p.Ala129Gly) c.686C>G (p.Ala229Gly) c.641C>G (p.Ala214Gly) c.563C>G (p.Ala188Gly) c.424+1085C>G c.419C>G (p.Ala140Gly) c.*496C>G (n.*496C>G) | |
X | g.48905307G>T | CA412895615 | SLC35A2 | c.602C>A (p.Ala201Glu) c.355-415C>A (n.355-415C>A) c.427-415C>A (n.427-415C>A) c.212-48C>A c.386C>A (p.Ala129Glu) c.686C>A (p.Ala229Glu) c.641C>A (p.Ala214Glu) c.563C>A (p.Ala188Glu) c.424+1085C>A c.419C>A (p.Ala140Glu) c.*496C>A (n.*496C>A) | gnomAD v4 |
X | g.48905308C>A | CA412895617 | SLC35A2 | c.601G>T (p.Ala201Ser) c.355-416G>T (n.355-416G>T) c.427-416G>T (n.427-416G>T) c.212-49G>T c.385G>T (p.Ala129Ser) c.685G>T (p.Ala229Ser) c.640G>T (p.Ala214Ser) c.562G>T (p.Ala188Ser) c.424+1084G>T c.418G>T (p.Ala140Ser) c.*495G>T (n.*495G>T) | |
X | g.48905308C>G | CA412895618 | SLC35A2 | c.601G>C (p.Ala201Pro) c.355-416G>C (n.355-416G>C) c.427-416G>C (n.427-416G>C) c.212-49G>C c.385G>C (p.Ala129Pro) c.685G>C (p.Ala229Pro) c.640G>C (p.Ala214Pro) c.562G>C (p.Ala188Pro) c.424+1084G>C c.418G>C (p.Ala140Pro) c.*495G>C (n.*495G>C) | |
X | g.48905308C>T | CA412895619 | SLC35A2 | c.601G>A (p.Ala201Thr) c.355-416G>A (n.355-416G>A) c.427-416G>A (n.427-416G>A) c.212-49G>A c.385G>A (p.Ala129Thr) c.685G>A (p.Ala229Thr) c.640G>A (p.Ala214Thr) c.562G>A (p.Ala188Thr) c.424+1084G>A c.418G>A (p.Ala140Thr) c.*495G>A (n.*495G>A) | |
X | g.48905311del | CA2499226750 | SLC35A2 | c.601del (p.Ala201GlnfsTer?) c.355-416del (n.355-416del) c.427-416del (n.427-416del) c.212-49del c.385del (p.Ala129GlnfsTer?) c.685del (p.Ala229GlnfsTer?) c.640del (p.Ala214GlnfsTer?) c.562del (p.Ala188GlnfsTer?) c.424+1084del c.418del (p.Ala140GlnfsTer?) c.*495del (n.*495del) | ClinVar dbSNP |
X | g.48905309C>A | CA516360238 | SLC35A2 | c.600G>T (p.Gly200=) c.355-417G>T (n.355-417G>T) c.427-417G>T (n.427-417G>T) c.212-50G>T c.384G>T (p.Gly128=) c.684G>T (p.Gly228=) c.639G>T (p.Gly213=) c.561G>T (p.Gly187=) c.424+1083G>T c.417G>T (p.Gly139=) c.*494G>T (n.*494G>T) | |
X | g.48905309C>G | CA516360239 | SLC35A2 | c.600G>C (p.Gly200=) c.355-417G>C (n.355-417G>C) c.427-417G>C (n.427-417G>C) c.212-50G>C c.384G>C (p.Gly128=) c.684G>C (p.Gly228=) c.639G>C (p.Gly213=) c.561G>C (p.Gly187=) c.424+1083G>C c.417G>C (p.Gly139=) c.*494G>C (n.*494G>C) | |
X | g.48905309C>T | CA516360240 | SLC35A2 | c.600G>A (p.Gly200=) c.355-417G>A (n.355-417G>A) c.427-417G>A (n.427-417G>A) c.212-50G>A c.384G>A (p.Gly128=) c.684G>A (p.Gly228=) c.639G>A (p.Gly213=) c.561G>A (p.Gly187=) c.424+1083G>A c.417G>A (p.Gly139=) c.*494G>A (n.*494G>A) | |
X | g.48905310C>A | CA412895620 | SLC35A2 | c.599G>T (p.Gly200Val) c.355-418G>T (n.355-418G>T) c.427-418G>T (n.427-418G>T) c.212-51G>T c.383G>T (p.Gly128Val) c.683G>T (p.Gly228Val) c.638G>T (p.Gly213Val) c.560G>T (p.Gly187Val) c.424+1082G>T c.416G>T (p.Gly139Val) c.*493G>T (n.*493G>T) | |
X | g.48905310C= | CA2428428928 | SLC35A2 | c.599G= (p.Gly200=) c.355-418G= (n.355-418G=) c.427-418G= (n.427-418G=) c.212-51G= c.383G= (p.Gly128=) c.683G= (p.Gly228=) c.638G= (p.Gly213=) c.560G= (p.Gly187=) c.424+1082G= c.416G= (p.Gly139=) c.*493G= (n.*493G=) | |
X | g.48905310C>G | CA412895621 | SLC35A2 | c.599G>C (p.Gly200Ala) c.355-418G>C (n.355-418G>C) c.427-418G>C (n.427-418G>C) c.212-51G>C c.383G>C (p.Gly128Ala) c.683G>C (p.Gly228Ala) c.638G>C (p.Gly213Ala) c.560G>C (p.Gly187Ala) c.424+1082G>C c.416G>C (p.Gly139Ala) c.*493G>C (n.*493G>C) | |
X | g.48905310C>T | CA412895622 | SLC35A2 | c.599G>A (p.Gly200Glu) c.355-418G>A (n.355-418G>A) c.427-418G>A (n.427-418G>A) c.212-51G>A c.383G>A (p.Gly128Glu) c.683G>A (p.Gly228Glu) c.638G>A (p.Gly213Glu) c.560G>A (p.Gly187Glu) c.424+1082G>A c.416G>A (p.Gly139Glu) c.*493G>A (n.*493G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905311C>A | CA412895623 | SLC35A2 | c.598G>T (p.Gly200Trp) c.355-419G>T (n.355-419G>T) c.427-419G>T (n.427-419G>T) c.212-52G>T c.382G>T (p.Gly128Trp) c.682G>T (p.Gly228Trp) c.637G>T (p.Gly213Trp) c.559G>T (p.Gly187Trp) c.424+1081G>T c.415G>T (p.Gly139Trp) c.*492G>T (n.*492G>T) | gnomAD v4 |
X | g.48905311C>G | CA412895624 | SLC35A2 | c.598G>C (p.Gly200Arg) c.355-419G>C (n.355-419G>C) c.427-419G>C (n.427-419G>C) c.212-52G>C c.382G>C (p.Gly128Arg) c.682G>C (p.Gly228Arg) c.637G>C (p.Gly213Arg) c.559G>C (p.Gly187Arg) c.424+1081G>C c.415G>C (p.Gly139Arg) c.*492G>C (n.*492G>C) | |
X | g.48905311C>T | CA412895625 | SLC35A2 | c.598G>A (p.Gly200Arg) c.355-419G>A (n.355-419G>A) c.427-419G>A (n.427-419G>A) c.212-52G>A c.382G>A (p.Gly128Arg) c.682G>A (p.Gly228Arg) c.637G>A (p.Gly213Arg) c.559G>A (p.Gly187Arg) c.424+1081G>A c.415G>A (p.Gly139Arg) c.*492G>A (n.*492G>A) | |
X | g.48905312A>C | CA516360242 | SLC35A2 | c.597T>G (p.Pro199=) c.355-420T>G (n.355-420T>G) c.427-420T>G (n.427-420T>G) c.212-53T>G c.381T>G (p.Pro127=) c.681T>G (p.Pro227=) c.636T>G (p.Pro212=) c.558T>G (p.Pro186=) c.424+1080T>G c.414T>G (p.Pro138=) c.*491T>G (n.*491T>G) | |
X | g.48905312A>G | CA516360243 | SLC35A2 | c.597T>C (p.Pro199=) c.355-420T>C (n.355-420T>C) c.427-420T>C (n.427-420T>C) c.212-53T>C c.381T>C (p.Pro127=) c.681T>C (p.Pro227=) c.636T>C (p.Pro212=) c.558T>C (p.Pro186=) c.424+1080T>C c.414T>C (p.Pro138=) c.*491T>C (n.*491T>C) | |
X | g.48905312A>T | CA516360244 | SLC35A2 | c.597T>A (p.Pro199=) c.355-420T>A (n.355-420T>A) c.427-420T>A (n.427-420T>A) c.212-53T>A c.381T>A (p.Pro127=) c.681T>A (p.Pro227=) c.636T>A (p.Pro212=) c.558T>A (p.Pro186=) c.424+1080T>A c.414T>A (p.Pro138=) c.*491T>A (n.*491T>A) | |
X | g.48905313G>A | CA412895626 | SLC35A2 | c.596C>T (p.Pro199Leu) c.355-421C>T (n.355-421C>T) c.427-421C>T (n.427-421C>T) c.212-54C>T c.380C>T (p.Pro127Leu) c.680C>T (p.Pro227Leu) c.635C>T (p.Pro212Leu) c.557C>T (p.Pro186Leu) c.424+1079C>T c.413C>T (p.Pro138Leu) c.*490C>T (n.*490C>T) | gnomAD v4 |
X | g.48905313G>C | CA412895627 | SLC35A2 | c.596C>G (p.Pro199Arg) c.355-421C>G (n.355-421C>G) c.427-421C>G (n.427-421C>G) c.212-54C>G c.380C>G (p.Pro127Arg) c.680C>G (p.Pro227Arg) c.635C>G (p.Pro212Arg) c.557C>G (p.Pro186Arg) c.424+1079C>G c.413C>G (p.Pro138Arg) c.*490C>G (n.*490C>G) | |
X | g.48905313G>T | CA412895628 | SLC35A2 | c.596C>A (p.Pro199His) c.355-421C>A (n.355-421C>A) c.427-421C>A (n.427-421C>A) c.212-54C>A c.380C>A (p.Pro127His) c.680C>A (p.Pro227His) c.635C>A (p.Pro212His) c.557C>A (p.Pro186His) c.424+1079C>A c.413C>A (p.Pro138His) c.*490C>A (n.*490C>A) | |
X | g.48905314G>A | CA412895631 | SLC35A2 | c.595C>T (p.Pro199Ser) c.355-422C>T (n.355-422C>T) c.427-422C>T (n.427-422C>T) c.212-55C>T c.379C>T (p.Pro127Ser) c.679C>T (p.Pro227Ser) c.634C>T (p.Pro212Ser) c.556C>T (p.Pro186Ser) c.424+1078C>T c.412C>T (p.Pro138Ser) c.*489C>T (n.*489C>T) | gnomAD v4 |
X | g.48905314G>C | CA412895629 | SLC35A2 | c.595C>G (p.Pro199Ala) c.355-422C>G (n.355-422C>G) c.427-422C>G (n.427-422C>G) c.212-55C>G c.379C>G (p.Pro127Ala) c.679C>G (p.Pro227Ala) c.634C>G (p.Pro212Ala) c.556C>G (p.Pro186Ala) c.424+1078C>G c.412C>G (p.Pro138Ala) c.*489C>G (n.*489C>G) | ClinVar |
X | g.48905314G= | CA2428428929 | SLC35A2 | c.595C= (p.Pro199=) c.355-422C= (n.355-422C=) c.427-422C= (n.427-422C=) c.212-55C= c.379C= (p.Pro127=) c.679C= (p.Pro227=) c.634C= (p.Pro212=) c.556C= (p.Pro186=) c.424+1078C= c.412C= (p.Pro138=) c.*489C= (n.*489C=) | |
X | g.48905314G>T | CA412895630 | SLC35A2 | c.595C>A (p.Pro199Thr) c.355-422C>A (n.355-422C>A) c.427-422C>A (n.427-422C>A) c.212-55C>A c.379C>A (p.Pro127Thr) c.679C>A (p.Pro227Thr) c.634C>A (p.Pro212Thr) c.556C>A (p.Pro186Thr) c.424+1078C>A c.412C>A (p.Pro138Thr) c.*489C>A (n.*489C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905315G>A | CA16608488 | SLC35A2 | c.594C>T (p.Asn198=) c.355-423C>T (n.355-423C>T) c.427-423C>T (n.427-423C>T) c.212-56C>T c.378C>T (p.Asn126=) c.678C>T (p.Asn226=) c.633C>T (p.Asn211=) c.555C>T (p.Asn185=) c.424+1077C>T c.411C>T (p.Asn137=) c.*488C>T (n.*488C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905315G>C | CA412895632 | SLC35A2 | c.594C>G (p.Asn198Lys) c.355-423C>G (n.355-423C>G) c.427-423C>G (n.427-423C>G) c.212-56C>G c.378C>G (p.Asn126Lys) c.678C>G (p.Asn226Lys) c.633C>G (p.Asn211Lys) c.555C>G (p.Asn185Lys) c.424+1077C>G c.411C>G (p.Asn137Lys) c.*488C>G (n.*488C>G) | |
X | g.48905315G= | CA2428428930 | SLC35A2 | c.594C= (p.Asn198=) c.355-423C= (n.355-423C=) c.427-423C= (n.427-423C=) c.212-56C= c.378C= (p.Asn126=) c.678C= (p.Asn226=) c.633C= (p.Asn211=) c.555C= (p.Asn185=) c.424+1077C= c.411C= (p.Asn137=) c.*488C= (n.*488C=) | |
X | g.48905315G>T | CA412895633 | SLC35A2 | c.594C>A (p.Asn198Lys) c.355-423C>A (n.355-423C>A) c.427-423C>A (n.427-423C>A) c.212-56C>A c.378C>A (p.Asn126Lys) c.678C>A (p.Asn226Lys) c.633C>A (p.Asn211Lys) c.555C>A (p.Asn185Lys) c.424+1077C>A c.411C>A (p.Asn137Lys) c.*488C>A (n.*488C>A) | |
X | g.48905316T>A | CA412895634 | SLC35A2 | c.593A>T (p.Asn198Ile) c.355-424A>T (n.355-424A>T) c.427-424A>T (n.427-424A>T) c.212-57A>T c.377A>T (p.Asn126Ile) c.677A>T (p.Asn226Ile) c.632A>T (p.Asn211Ile) c.554A>T (p.Asn185Ile) c.424+1076A>T c.410A>T (p.Asn137Ile) c.*487A>T (n.*487A>T) | |
X | g.48905316T>C | CA412895635 | SLC35A2 | c.593A>G (p.Asn198Ser) c.355-424A>G (n.355-424A>G) c.427-424A>G (n.427-424A>G) c.212-57A>G c.377A>G (p.Asn126Ser) c.677A>G (p.Asn226Ser) c.632A>G (p.Asn211Ser) c.554A>G (p.Asn185Ser) c.424+1076A>G c.410A>G (p.Asn137Ser) c.*487A>G (n.*487A>G) | |
X | g.48905316T>G | CA412895636 | SLC35A2 | c.593A>C (p.Asn198Thr) c.355-424A>C (n.355-424A>C) c.427-424A>C (n.427-424A>C) c.212-57A>C c.377A>C (p.Asn126Thr) c.677A>C (p.Asn226Thr) c.632A>C (p.Asn211Thr) c.554A>C (p.Asn185Thr) c.424+1076A>C c.410A>C (p.Asn137Thr) c.*487A>C (n.*487A>C) | |
X | g.48905317T>A | CA412895637 | SLC35A2 | c.592A>T (p.Asn198Tyr) c.355-425A>T (n.355-425A>T) c.427-425A>T (n.427-425A>T) c.212-58A>T c.376A>T (p.Asn126Tyr) c.676A>T (p.Asn226Tyr) c.631A>T (p.Asn211Tyr) c.553A>T (p.Asn185Tyr) c.424+1075A>T c.409A>T (p.Asn137Tyr) c.*486A>T (n.*486A>T) | dbSNP |
X | g.48905317T>C | CA412895638 | SLC35A2 | c.592A>G (p.Asn198Asp) c.355-425A>G (n.355-425A>G) c.427-425A>G (n.427-425A>G) c.212-58A>G c.376A>G (p.Asn126Asp) c.676A>G (p.Asn226Asp) c.631A>G (p.Asn211Asp) c.553A>G (p.Asn185Asp) c.424+1075A>G c.409A>G (p.Asn137Asp) c.*486A>G (n.*486A>G) | |
X | g.48905317T>G | CA412895639 | SLC35A2 | c.592A>C (p.Asn198His) c.355-425A>C (n.355-425A>C) c.427-425A>C (n.427-425A>C) c.212-58A>C c.376A>C (p.Asn126His) c.676A>C (p.Asn226His) c.631A>C (p.Asn211His) c.553A>C (p.Asn185His) c.424+1075A>C c.409A>C (p.Asn137His) c.*486A>C (n.*486A>C) | |
X | g.48905317T= | CA2428428931 | SLC35A2 | c.592A= (p.Asn198=) c.355-425A= (n.355-425A=) c.427-425A= (n.427-425A=) c.212-58A= c.376A= (p.Asn126=) c.676A= (p.Asn226=) c.631A= (p.Asn211=) c.553A= (p.Asn185=) c.424+1075A= c.409A= (p.Asn137=) c.*486A= (n.*486A=) | |
X | g.48905318C>A | CA412895640 | SLC35A2 | c.591G>T (p.Gln197His) c.355-426G>T (n.355-426G>T) c.427-426G>T (n.427-426G>T) c.212-59G>T c.375G>T (p.Gln125His) c.675G>T (p.Gln225His) c.630G>T (p.Gln210His) c.552G>T (p.Gln184His) c.424+1074G>T c.408G>T (p.Gln136His) c.*485G>T (n.*485G>T) | gnomAD v4 |
X | g.48905318C>G | CA412895641 | SLC35A2 | c.591G>C (p.Gln197His) c.355-426G>C (n.355-426G>C) c.427-426G>C (n.427-426G>C) c.212-59G>C c.375G>C (p.Gln125His) c.675G>C (p.Gln225His) c.630G>C (p.Gln210His) c.552G>C (p.Gln184His) c.424+1074G>C c.408G>C (p.Gln136His) c.*485G>C (n.*485G>C) | |
X | g.48905318C>T | CA516360247 | SLC35A2 | c.591G>A (p.Gln197=) c.355-426G>A (n.355-426G>A) c.427-426G>A (n.427-426G>A) c.212-59G>A c.375G>A (p.Gln125=) c.675G>A (p.Gln225=) c.630G>A (p.Gln210=) c.552G>A (p.Gln184=) c.424+1074G>A c.408G>A (p.Gln136=) c.*485G>A (n.*485G>A) | |
X | g.48905319T>A | CA412895644 | SLC35A2 | c.590A>T (p.Gln197Leu) c.355-427A>T (n.355-427A>T) c.427-427A>T (n.427-427A>T) c.212-60A>T c.374A>T (p.Gln125Leu) c.674A>T (p.Gln225Leu) c.629A>T (p.Gln210Leu) c.551A>T (p.Gln184Leu) c.424+1073A>T c.407A>T (p.Gln136Leu) c.*484A>T (n.*484A>T) | |
X | g.48905319T>C | CA412895643 | SLC35A2 | c.590A>G (p.Gln197Arg) c.355-427A>G (n.355-427A>G) c.427-427A>G (n.427-427A>G) c.212-60A>G c.374A>G (p.Gln125Arg) c.674A>G (p.Gln225Arg) c.629A>G (p.Gln210Arg) c.551A>G (p.Gln184Arg) c.424+1073A>G c.407A>G (p.Gln136Arg) c.*484A>G (n.*484A>G) | |
X | g.48905319T>G | CA412895642 | SLC35A2 | c.590A>C (p.Gln197Pro) c.355-427A>C (n.355-427A>C) c.427-427A>C (n.427-427A>C) c.212-60A>C c.374A>C (p.Gln125Pro) c.674A>C (p.Gln225Pro) c.629A>C (p.Gln210Pro) c.551A>C (p.Gln184Pro) c.424+1073A>C c.407A>C (p.Gln136Pro) c.*484A>C (n.*484A>C) | |
X | g.48905320G>A | CA412895645 | SLC35A2 | c.589C>T (p.Gln197Ter) c.355-428C>T (n.355-428C>T) c.427-428C>T (n.427-428C>T) c.212-61C>T c.373C>T (p.Gln125Ter) c.673C>T (p.Gln225Ter) c.628C>T (p.Gln210Ter) c.550C>T (p.Gln184Ter) c.424+1072C>T c.406C>T (p.Gln136Ter) c.*483C>T (n.*483C>T) | |
X | g.48905320G>C | CA412895646 | SLC35A2 | c.589C>G (p.Gln197Glu) c.355-428C>G (n.355-428C>G) c.427-428C>G (n.427-428C>G) c.212-61C>G c.373C>G (p.Gln125Glu) c.673C>G (p.Gln225Glu) c.628C>G (p.Gln210Glu) c.550C>G (p.Gln184Glu) c.424+1072C>G c.406C>G (p.Gln136Glu) c.*483C>G (n.*483C>G) | dbSNP gnomAD v4 COSMIC |
X | g.48905320G= | CA2428428932 | SLC35A2 | c.589C= (p.Gln197=) c.355-428C= (n.355-428C=) c.427-428C= (n.427-428C=) c.212-61C= c.373C= (p.Gln125=) c.673C= (p.Gln225=) c.628C= (p.Gln210=) c.550C= (p.Gln184=) c.424+1072C= c.406C= (p.Gln136=) c.*483C= (n.*483C=) | |
X | g.48905320G>T | CA412895647 | SLC35A2 | c.589C>A (p.Gln197Lys) c.355-428C>A (n.355-428C>A) c.427-428C>A (n.427-428C>A) c.212-61C>A c.373C>A (p.Gln125Lys) c.673C>A (p.Gln225Lys) c.628C>A (p.Gln210Lys) c.550C>A (p.Gln184Lys) c.424+1072C>A c.406C>A (p.Gln136Lys) c.*483C>A (n.*483C>A) | |
X | g.48905321A>C | CA412895648 | SLC35A2 | c.588T>G (p.Asp196Glu) c.355-429T>G (n.355-429T>G) c.427-429T>G (n.427-429T>G) c.212-62T>G c.372T>G (p.Asp124Glu) c.672T>G (p.Asp224Glu) c.627T>G (p.Asp209Glu) c.549T>G (p.Asp183Glu) c.424+1071T>G c.405T>G (p.Asp135Glu) c.*482T>G (n.*482T>G) | |
X | g.48905321A>G | CA516360251 | SLC35A2 | c.588T>C (p.Asp196=) c.355-429T>C (n.355-429T>C) c.427-429T>C (n.427-429T>C) c.212-62T>C c.372T>C (p.Asp124=) c.672T>C (p.Asp224=) c.627T>C (p.Asp209=) c.549T>C (p.Asp183=) c.424+1071T>C c.405T>C (p.Asp135=) c.*482T>C (n.*482T>C) | |
X | g.48905321A>T | CA412895649 | SLC35A2 | c.588T>A (p.Asp196Glu) c.355-429T>A (n.355-429T>A) c.427-429T>A (n.427-429T>A) c.212-62T>A c.372T>A (p.Asp124Glu) c.672T>A (p.Asp224Glu) c.627T>A (p.Asp209Glu) c.549T>A (p.Asp183Glu) c.424+1071T>A c.405T>A (p.Asp135Glu) c.*482T>A (n.*482T>A) | |
X | g.48905322T>A | CA412895650 | SLC35A2 | c.587A>T (p.Asp196Val) c.355-430A>T (n.355-430A>T) c.427-430A>T (n.427-430A>T) c.212-63A>T c.371A>T (p.Asp124Val) c.671A>T (p.Asp224Val) c.626A>T (p.Asp209Val) c.548A>T (p.Asp183Val) c.424+1070A>T c.404A>T (p.Asp135Val) c.*481A>T (n.*481A>T) | |
X | g.48905322T>C | CA412895651 | SLC35A2 | c.587A>G (p.Asp196Gly) c.355-430A>G (n.355-430A>G) c.427-430A>G (n.427-430A>G) c.212-63A>G c.371A>G (p.Asp124Gly) c.671A>G (p.Asp224Gly) c.626A>G (p.Asp209Gly) c.548A>G (p.Asp183Gly) c.424+1070A>G c.404A>G (p.Asp135Gly) c.*481A>G (n.*481A>G) | |
X | g.48905322T>G | CA412895652 | SLC35A2 | c.587A>C (p.Asp196Ala) c.355-430A>C (n.355-430A>C) c.427-430A>C (n.427-430A>C) c.212-63A>C c.371A>C (p.Asp124Ala) c.671A>C (p.Asp224Ala) c.626A>C (p.Asp209Ala) c.548A>C (p.Asp183Ala) c.424+1070A>C c.404A>C (p.Asp135Ala) c.*481A>C (n.*481A>C) | |
X | g.48905323C>A | CA412895653 | SLC35A2 | c.586G>T (p.Asp196Tyr) c.355-431G>T (n.355-431G>T) c.427-431G>T (n.427-431G>T) c.212-64G>T c.370G>T (p.Asp124Tyr) c.670G>T (p.Asp224Tyr) c.625G>T (p.Asp209Tyr) c.547G>T (p.Asp183Tyr) c.424+1069G>T c.403G>T (p.Asp135Tyr) c.*480G>T (n.*480G>T) | gnomAD v4 |
X | g.48905323C>G | CA412895654 | SLC35A2 | c.586G>C (p.Asp196His) c.355-431G>C (n.355-431G>C) c.427-431G>C (n.427-431G>C) c.212-64G>C c.370G>C (p.Asp124His) c.670G>C (p.Asp224His) c.625G>C (p.Asp209His) c.547G>C (p.Asp183His) c.424+1069G>C c.403G>C (p.Asp135His) c.*480G>C (n.*480G>C) | |
X | g.48905323C>T | CA412895655 | SLC35A2 | c.586G>A (p.Asp196Asn) c.355-431G>A (n.355-431G>A) c.427-431G>A (n.427-431G>A) c.212-64G>A c.370G>A (p.Asp124Asn) c.670G>A (p.Asp224Asn) c.625G>A (p.Asp209Asn) c.547G>A (p.Asp183Asn) c.424+1069G>A c.403G>A (p.Asp135Asn) c.*480G>A (n.*480G>A) | |
X | g.48905324C>A | CA516360252 | SLC35A2 | c.585G>T (p.Leu195=) c.355-432G>T (n.355-432G>T) c.427-432G>T (n.427-432G>T) c.212-65G>T c.369G>T (p.Leu123=) c.669G>T (p.Leu223=) c.624G>T (p.Leu208=) c.546G>T (p.Leu182=) c.424+1068G>T c.402G>T (p.Leu134=) c.*479G>T (n.*479G>T) | |
X | g.48905324C= | CA2428428933 | SLC35A2 | c.585G= (p.Leu195=) c.355-432G= (n.355-432G=) c.427-432G= (n.427-432G=) c.212-65G= c.369G= (p.Leu123=) c.669G= (p.Leu223=) c.624G= (p.Leu208=) c.546G= (p.Leu182=) c.424+1068G= c.402G= (p.Leu134=) c.*479G= (n.*479G=) | |
X | g.48905324C>G | CA516360253 | SLC35A2 | c.585G>C (p.Leu195=) c.355-432G>C (n.355-432G>C) c.427-432G>C (n.427-432G>C) c.212-65G>C c.369G>C (p.Leu123=) c.669G>C (p.Leu223=) c.624G>C (p.Leu208=) c.546G>C (p.Leu182=) c.424+1068G>C c.402G>C (p.Leu134=) c.*479G>C (n.*479G>C) | |
X | g.48905324C>T | CA516360254 | SLC35A2 | c.585G>A (p.Leu195=) c.355-432G>A (n.355-432G>A) c.427-432G>A (n.427-432G>A) c.212-65G>A c.369G>A (p.Leu123=) c.669G>A (p.Leu223=) c.624G>A (p.Leu208=) c.546G>A (p.Leu182=) c.424+1068G>A c.402G>A (p.Leu134=) c.*479G>A (n.*479G>A) | dbSNP |
X | g.48905325A= | CA2428428934 | SLC35A2 | c.584T= (p.Leu195=) c.355-433T= (n.355-433T=) c.427-433T= (n.427-433T=) c.212-66T= c.368T= (p.Leu123=) c.668T= (p.Leu223=) c.623T= (p.Leu208=) c.545T= (p.Leu182=) c.424+1067T= c.401T= (p.Leu134=) c.*478T= (n.*478T=) | |
X | g.48905325A>C | CA412895656 | SLC35A2 | c.584T>G (p.Leu195Arg) c.355-433T>G (n.355-433T>G) c.427-433T>G (n.427-433T>G) c.212-66T>G c.368T>G (p.Leu123Arg) c.668T>G (p.Leu223Arg) c.623T>G (p.Leu208Arg) c.545T>G (p.Leu182Arg) c.424+1067T>G c.401T>G (p.Leu134Arg) c.*478T>G (n.*478T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905325A>G | CA412895657 | SLC35A2 | c.584T>C (p.Leu195Pro) c.355-433T>C (n.355-433T>C) c.427-433T>C (n.427-433T>C) c.212-66T>C c.368T>C (p.Leu123Pro) c.668T>C (p.Leu223Pro) c.623T>C (p.Leu208Pro) c.545T>C (p.Leu182Pro) c.424+1067T>C c.401T>C (p.Leu134Pro) c.*478T>C (n.*478T>C) | |
X | g.48905325A>T | CA412895658 | SLC35A2 | c.584T>A (p.Leu195Gln) c.355-433T>A (n.355-433T>A) c.427-433T>A (n.427-433T>A) c.212-66T>A c.368T>A (p.Leu123Gln) c.668T>A (p.Leu223Gln) c.623T>A (p.Leu208Gln) c.545T>A (p.Leu182Gln) c.424+1067T>A c.401T>A (p.Leu134Gln) c.*478T>A (n.*478T>A) | |
X | g.48905326G>A | CA516360258 | SLC35A2 | c.583C>T (p.Leu195=) c.355-434C>T (n.355-434C>T) c.427-434C>T (n.427-434C>T) c.212-67C>T c.367C>T (p.Leu123=) c.667C>T (p.Leu223=) c.622C>T (p.Leu208=) c.544C>T (p.Leu182=) c.424+1066C>T c.400C>T (p.Leu134=) c.*477C>T (n.*477C>T) | |
X | g.48905326G>C | CA412895659 | SLC35A2 | c.583C>G (p.Leu195Val) c.355-434C>G (n.355-434C>G) c.427-434C>G (n.427-434C>G) c.212-67C>G c.367C>G (p.Leu123Val) c.667C>G (p.Leu223Val) c.622C>G (p.Leu208Val) c.544C>G (p.Leu182Val) c.424+1066C>G c.400C>G (p.Leu134Val) c.*477C>G (n.*477C>G) | |
X | g.48905326G>T | CA412895660 | SLC35A2 | c.583C>A (p.Leu195Met) c.355-434C>A (n.355-434C>A) c.427-434C>A (n.427-434C>A) c.212-67C>A c.367C>A (p.Leu123Met) c.667C>A (p.Leu223Met) c.622C>A (p.Leu208Met) c.544C>A (p.Leu182Met) c.424+1066C>A c.400C>A (p.Leu134Met) c.*477C>A (n.*477C>A) | gnomAD v4 |
X | g.48905327T>A | CA516360259 | SLC35A2 | c.582A>T (p.Pro194=) c.355-435A>T (n.355-435A>T) c.427-435A>T (n.427-435A>T) c.212-68A>T c.366A>T (p.Pro122=) c.666A>T (p.Pro222=) c.621A>T (p.Pro207=) c.543A>T (p.Pro181=) c.424+1065A>T c.399A>T (p.Pro133=) c.*476A>T (n.*476A>T) | |
X | g.48905327T>C | CA516360260 | SLC35A2 | c.582A>G (p.Pro194=) c.355-435A>G (n.355-435A>G) c.427-435A>G (n.427-435A>G) c.212-68A>G c.366A>G (p.Pro122=) c.666A>G (p.Pro222=) c.621A>G (p.Pro207=) c.543A>G (p.Pro181=) c.424+1065A>G c.399A>G (p.Pro133=) c.*476A>G (n.*476A>G) | |
X | g.48905327T>G | CA516360261 | SLC35A2 | c.582A>C (p.Pro194=) c.355-435A>C (n.355-435A>C) c.427-435A>C (n.427-435A>C) c.212-68A>C c.366A>C (p.Pro122=) c.666A>C (p.Pro222=) c.621A>C (p.Pro207=) c.543A>C (p.Pro181=) c.424+1065A>C c.399A>C (p.Pro133=) c.*476A>C (n.*476A>C) | |
X | g.48905328G>A | CA412895661 | SLC35A2 | c.581C>T (p.Pro194Leu) c.355-436C>T (n.355-436C>T) c.427-436C>T (n.427-436C>T) c.212-69C>T c.365C>T (p.Pro122Leu) c.665C>T (p.Pro222Leu) c.620C>T (p.Pro207Leu) c.542C>T (p.Pro181Leu) c.424+1064C>T c.398C>T (p.Pro133Leu) c.*475C>T (n.*475C>T) | |
X | g.48905328G>C | CA412895662 | SLC35A2 | c.581C>G (p.Pro194Arg) c.355-436C>G (n.355-436C>G) c.427-436C>G (n.427-436C>G) c.212-69C>G c.365C>G (p.Pro122Arg) c.665C>G (p.Pro222Arg) c.620C>G (p.Pro207Arg) c.542C>G (p.Pro181Arg) c.424+1064C>G c.398C>G (p.Pro133Arg) c.*475C>G (n.*475C>G) | |
X | g.48905328G>T | CA412895663 | SLC35A2 | c.581C>A (p.Pro194Gln) c.355-436C>A (n.355-436C>A) c.427-436C>A (n.427-436C>A) c.212-69C>A c.365C>A (p.Pro122Gln) c.665C>A (p.Pro222Gln) c.620C>A (p.Pro207Gln) c.542C>A (p.Pro181Gln) c.424+1064C>A c.398C>A (p.Pro133Gln) c.*475C>A (n.*475C>A) | |
X | g.48905329G>A | CA412895664 | SLC35A2 | c.580C>T (p.Pro194Ser) c.355-437C>T (n.355-437C>T) c.427-437C>T (n.427-437C>T) c.212-70C>T c.364C>T (p.Pro122Ser) c.664C>T (p.Pro222Ser) c.619C>T (p.Pro207Ser) c.541C>T (p.Pro181Ser) c.424+1063C>T c.397C>T (p.Pro133Ser) c.*474C>T (n.*474C>T) | dbSNP |
X | g.48905329G>C | CA412895665 | SLC35A2 | c.580C>G (p.Pro194Ala) c.355-437C>G (n.355-437C>G) c.427-437C>G (n.427-437C>G) c.212-70C>G c.364C>G (p.Pro122Ala) c.664C>G (p.Pro222Ala) c.619C>G (p.Pro207Ala) c.541C>G (p.Pro181Ala) c.424+1063C>G c.397C>G (p.Pro133Ala) c.*474C>G (n.*474C>G) | |
X | g.48905329G= | CA2428428935 | SLC35A2 | c.580C= (p.Pro194=) c.355-437C= (n.355-437C=) c.427-437C= (n.427-437C=) c.212-70C= c.364C= (p.Pro122=) c.664C= (p.Pro222=) c.619C= (p.Pro207=) c.541C= (p.Pro181=) c.424+1063C= c.397C= (p.Pro133=) c.*474C= (n.*474C=) | |
X | g.48905329G>T | CA412895666 | SLC35A2 | c.580C>A (p.Pro194Thr) c.355-437C>A (n.355-437C>A) c.427-437C>A (n.427-437C>A) c.212-70C>A c.364C>A (p.Pro122Thr) c.664C>A (p.Pro222Thr) c.619C>A (p.Pro207Thr) c.541C>A (p.Pro181Thr) c.424+1063C>A c.397C>A (p.Pro133Thr) c.*474C>A (n.*474C>A) | ClinVar dbSNP |
X | g.48905330C>A | CA516360264 | SLC35A2 | c.579G>T (p.Arg193=) c.355-438G>T (n.355-438G>T) c.427-438G>T (n.427-438G>T) c.212-71G>T c.363G>T (p.Arg121=) c.663G>T (p.Arg221=) c.618G>T (p.Arg206=) c.540G>T (p.Arg180=) c.424+1062G>T c.396G>T (p.Arg132=) c.*473G>T (n.*473G>T) | COSMIC |
X | g.48905330C= | CA2428428936 | SLC35A2 | c.579G= (p.Arg193=) c.355-438G= (n.355-438G=) c.427-438G= (n.427-438G=) c.212-71G= c.363G= (p.Arg121=) c.663G= (p.Arg221=) c.618G= (p.Arg206=) c.540G= (p.Arg180=) c.424+1062G= c.396G= (p.Arg132=) c.*473G= (n.*473G=) | |
X | g.48905330C>G | CA516360266 | SLC35A2 | c.579G>C (p.Arg193=) c.355-438G>C (n.355-438G>C) c.427-438G>C (n.427-438G>C) c.212-71G>C c.363G>C (p.Arg121=) c.663G>C (p.Arg221=) c.618G>C (p.Arg206=) c.540G>C (p.Arg180=) c.424+1062G>C c.396G>C (p.Arg132=) c.*473G>C (n.*473G>C) | |
X | g.48905330C>T | CA516360267 | SLC35A2 | c.579G>A (p.Arg193=) c.355-438G>A (n.355-438G>A) c.427-438G>A (n.427-438G>A) c.212-71G>A c.363G>A (p.Arg121=) c.663G>A (p.Arg221=) c.618G>A (p.Arg206=) c.540G>A (p.Arg180=) c.424+1062G>A c.396G>A (p.Arg132=) c.*473G>A (n.*473G>A) | ClinVar dbSNP |
X | g.48905331C>A | CA412895667 | SLC35A2 | c.578G>T (p.Arg193Leu) c.355-439G>T (n.355-439G>T) c.427-439G>T (n.427-439G>T) c.212-72G>T c.362G>T (p.Arg121Leu) c.662G>T (p.Arg221Leu) c.617G>T (p.Arg206Leu) c.539G>T (p.Arg180Leu) c.424+1061G>T c.395G>T (p.Arg132Leu) c.*472G>T (n.*472G>T) | gnomAD v4 |
X | g.48905331C= | CA2428428937 | SLC35A2 | c.578G= (p.Arg193=) c.355-439G= (n.355-439G=) c.427-439G= (n.427-439G=) c.212-72G= c.362G= (p.Arg121=) c.662G= (p.Arg221=) c.617G= (p.Arg206=) c.539G= (p.Arg180=) c.424+1061G= c.395G= (p.Arg132=) c.*472G= (n.*472G=) | |
X | g.48905331C>G | CA412895668 | SLC35A2 | c.578G>C (p.Arg193Pro) c.355-439G>C (n.355-439G>C) c.427-439G>C (n.427-439G>C) c.212-72G>C c.362G>C (p.Arg121Pro) c.662G>C (p.Arg221Pro) c.617G>C (p.Arg206Pro) c.539G>C (p.Arg180Pro) c.424+1061G>C c.395G>C (p.Arg132Pro) c.*472G>C (n.*472G>C) | gnomAD v4 |
X | g.48905331C>T | CA412895669 | SLC35A2 | c.578G>A (p.Arg193Gln) c.355-439G>A (n.355-439G>A) c.427-439G>A (n.427-439G>A) c.212-72G>A c.362G>A (p.Arg121Gln) c.662G>A (p.Arg221Gln) c.617G>A (p.Arg206Gln) c.539G>A (p.Arg180Gln) c.424+1061G>A c.395G>A (p.Arg132Gln) c.*472G>A (n.*472G>A) | ClinVar dbSNP gnomAD v4 |
X | g.48905332G>A | CA412895670 | SLC35A2 | c.577C>T (p.Arg193Trp) c.355-440C>T (n.355-440C>T) c.427-440C>T (n.427-440C>T) c.212-73C>T c.361C>T (p.Arg121Trp) c.661C>T (p.Arg221Trp) c.616C>T (p.Arg206Trp) c.538C>T (p.Arg180Trp) c.424+1060C>T c.394C>T (p.Arg132Trp) c.*471C>T (n.*471C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905332G>C | CA412895671 | SLC35A2 | c.577C>G (p.Arg193Gly) c.355-440C>G (n.355-440C>G) c.427-440C>G (n.427-440C>G) c.212-73C>G c.361C>G (p.Arg121Gly) c.661C>G (p.Arg221Gly) c.616C>G (p.Arg206Gly) c.538C>G (p.Arg180Gly) c.424+1060C>G c.394C>G (p.Arg132Gly) c.*471C>G (n.*471C>G) | |
X | g.48905332G= | CA2428428938 | SLC35A2 | c.577C= (p.Arg193=) c.355-440C= (n.355-440C=) c.427-440C= (n.427-440C=) c.212-73C= c.361C= (p.Arg121=) c.661C= (p.Arg221=) c.616C= (p.Arg206=) c.538C= (p.Arg180=) c.424+1060C= c.394C= (p.Arg132=) c.*471C= (n.*471C=) | |
X | g.48905332G>T | CA516360269 | SLC35A2 | c.577C>A (p.Arg193=) c.355-440C>A (n.355-440C>A) c.427-440C>A (n.427-440C>A) c.212-73C>A c.361C>A (p.Arg121=) c.661C>A (p.Arg221=) c.616C>A (p.Arg206=) c.538C>A (p.Arg180=) c.424+1060C>A c.394C>A (p.Arg132=) c.*471C>A (n.*471C>A) | ClinVar dbSNP gnomAD v4 |
X | g.48905333T>A | CA516360270 | SLC35A2 | c.576A>T (p.Pro192=) c.355-441A>T (n.355-441A>T) c.427-441A>T (n.427-441A>T) c.212-74A>T c.360A>T (p.Pro120=) c.660A>T (p.Pro220=) c.615A>T (p.Pro205=) c.537A>T (p.Pro179=) c.424+1059A>T c.393A>T (p.Pro131=) c.*470A>T (n.*470A>T) | |
X | g.48905333T>C | CA516360271 | SLC35A2 | c.576A>G (p.Pro192=) c.355-441A>G (n.355-441A>G) c.427-441A>G (n.427-441A>G) c.212-74A>G c.360A>G (p.Pro120=) c.660A>G (p.Pro220=) c.615A>G (p.Pro205=) c.537A>G (p.Pro179=) c.424+1059A>G c.393A>G (p.Pro131=) c.*470A>G (n.*470A>G) | |
X | g.48905333T>G | CA10406111 | SLC35A2 | c.576A>C (p.Pro192=) c.355-441A>C (n.355-441A>C) c.427-441A>C (n.427-441A>C) c.212-74A>C c.360A>C (p.Pro120=) c.660A>C (p.Pro220=) c.615A>C (p.Pro205=) c.537A>C (p.Pro179=) c.424+1059A>C c.393A>C (p.Pro131=) c.*470A>C (n.*470A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905333T= | CA2428428939 | SLC35A2 | c.576A= (p.Pro192=) c.355-441A= (n.355-441A=) c.427-441A= (n.427-441A=) c.212-74A= c.360A= (p.Pro120=) c.660A= (p.Pro220=) c.615A= (p.Pro205=) c.537A= (p.Pro179=) c.424+1059A= c.393A= (p.Pro131=) c.*470A= (n.*470A=) | |
X | g.48905334G>A | CA412895674 | SLC35A2 | c.575C>T (p.Pro192Leu) c.355-442C>T (n.355-442C>T) c.427-442C>T (n.427-442C>T) c.212-75C>T c.359C>T (p.Pro120Leu) c.659C>T (p.Pro220Leu) c.614C>T (p.Pro205Leu) c.536C>T (p.Pro179Leu) c.424+1058C>T c.392C>T (p.Pro131Leu) c.*469C>T (n.*469C>T) | gnomAD v4 |
X | g.48905334G>C | CA412895673 | SLC35A2 | c.575C>G (p.Pro192Arg) c.355-442C>G (n.355-442C>G) c.427-442C>G (n.427-442C>G) c.212-75C>G c.359C>G (p.Pro120Arg) c.659C>G (p.Pro220Arg) c.614C>G (p.Pro205Arg) c.536C>G (p.Pro179Arg) c.424+1058C>G c.392C>G (p.Pro131Arg) c.*469C>G (n.*469C>G) | |
X | g.48905334G>T | CA412895672 | SLC35A2 | c.575C>A (p.Pro192Gln) c.355-442C>A (n.355-442C>A) c.427-442C>A (n.427-442C>A) c.212-75C>A c.359C>A (p.Pro120Gln) c.659C>A (p.Pro220Gln) c.614C>A (p.Pro205Gln) c.536C>A (p.Pro179Gln) c.424+1058C>A c.392C>A (p.Pro131Gln) c.*469C>A (n.*469C>A) | gnomAD v4 |
X | g.48905335G>A | CA412895676 | SLC35A2 | c.574C>T (p.Pro192Ser) c.355-443C>T (n.355-443C>T) c.427-443C>T (n.427-443C>T) c.212-76C>T c.358C>T (p.Pro120Ser) c.658C>T (p.Pro220Ser) c.613C>T (p.Pro205Ser) c.535C>T (p.Pro179Ser) c.424+1057C>T c.391C>T (p.Pro131Ser) c.*468C>T (n.*468C>T) | |
X | g.48905335G>C | CA412895675 | SLC35A2 | c.574C>G (p.Pro192Ala) c.355-443C>G (n.355-443C>G) c.427-443C>G (n.427-443C>G) c.212-76C>G c.358C>G (p.Pro120Ala) c.658C>G (p.Pro220Ala) c.613C>G (p.Pro205Ala) c.535C>G (p.Pro179Ala) c.424+1057C>G c.391C>G (p.Pro131Ala) c.*468C>G (n.*468C>G) | |
X | g.48905335G>T | CA412895677 | SLC35A2 | c.574C>A (p.Pro192Thr) c.355-443C>A (n.355-443C>A) c.427-443C>A (n.427-443C>A) c.212-76C>A c.358C>A (p.Pro120Thr) c.658C>A (p.Pro220Thr) c.613C>A (p.Pro205Thr) c.535C>A (p.Pro179Thr) c.424+1057C>A c.391C>A (p.Pro131Thr) c.*468C>A (n.*468C>A) | gnomAD v4 |
X | g.48905336G>A | CA516360273 | SLC35A2 | c.573C>T (p.Gly191=) c.355-444C>T (n.355-444C>T) c.427-444C>T (n.427-444C>T) c.212-77C>T c.357C>T (p.Gly119=) c.657C>T (p.Gly219=) c.612C>T (p.Gly204=) c.534C>T (p.Gly178=) c.424+1056C>T c.390C>T (p.Gly130=) c.*467C>T (n.*467C>T) | gnomAD v4 |
X | g.48905336G>C | CA516360274 | SLC35A2 | c.573C>G (p.Gly191=) c.355-444C>G (n.355-444C>G) c.427-444C>G (n.427-444C>G) c.212-77C>G c.357C>G (p.Gly119=) c.657C>G (p.Gly219=) c.612C>G (p.Gly204=) c.534C>G (p.Gly178=) c.424+1056C>G c.390C>G (p.Gly130=) c.*467C>G (n.*467C>G) | |
X | g.48905336G>T | CA516360275 | SLC35A2 | c.573C>A (p.Gly191=) c.355-444C>A (n.355-444C>A) c.427-444C>A (n.427-444C>A) c.212-77C>A c.357C>A (p.Gly119=) c.657C>A (p.Gly219=) c.612C>A (p.Gly204=) c.534C>A (p.Gly178=) c.424+1056C>A c.390C>A (p.Gly130=) c.*467C>A (n.*467C>A) | |
X | g.48905340_48905361del | CA2695233840 | SLC35A2 | c.552_573del (p.Gln185HisfsTer?) c.355-465_355-444del (n.355-465_355-444del) c.427-465_427-444del (n.427-465_427-444del) c.212-98_212-77del c.336_357del (p.Gln113HisfsTer?) c.636_657del (p.Gln213HisfsTer?) c.591_612del (p.Gln198HisfsTer?) c.513_534del (p.Gln172HisfsTer?) c.424+1035_424+1056del c.369_390del (p.Gln124HisfsTer?) c.*446_*467del (n.*446_*467del) | |
X | g.48905337C>A | CA412895678 | SLC35A2 | c.572G>T (p.Gly191Val) c.355-445G>T (n.355-445G>T) c.427-445G>T (n.427-445G>T) c.212-78G>T c.356G>T (p.Gly119Val) c.656G>T (p.Gly219Val) c.611G>T (p.Gly204Val) c.533G>T (p.Gly178Val) c.424+1055G>T c.389G>T (p.Gly130Val) c.*466G>T (n.*466G>T) | |
X | g.48905337C= | CA2428428940 | SLC35A2 | c.572G= (p.Gly191=) c.355-445G= (n.355-445G=) c.427-445G= (n.427-445G=) c.212-78G= c.356G= (p.Gly119=) c.656G= (p.Gly219=) c.611G= (p.Gly204=) c.533G= (p.Gly178=) c.424+1055G= c.389G= (p.Gly130=) c.*466G= (n.*466G=) | |
X | g.48905337C>G | CA10406112 | SLC35A2 | c.572G>C (p.Gly191Ala) c.355-445G>C (n.355-445G>C) c.427-445G>C (n.427-445G>C) c.212-78G>C c.356G>C (p.Gly119Ala) c.656G>C (p.Gly219Ala) c.611G>C (p.Gly204Ala) c.533G>C (p.Gly178Ala) c.424+1055G>C c.389G>C (p.Gly130Ala) c.*466G>C (n.*466G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905337C>T | CA412895679 | SLC35A2 | c.572G>A (p.Gly191Asp) c.355-445G>A (n.355-445G>A) c.427-445G>A (n.427-445G>A) c.212-78G>A c.356G>A (p.Gly119Asp) c.656G>A (p.Gly219Asp) c.611G>A (p.Gly204Asp) c.533G>A (p.Gly178Asp) c.424+1055G>A c.389G>A (p.Gly130Asp) c.*466G>A (n.*466G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905338C>A | CA412895680 | SLC35A2 | c.571G>T (p.Gly191Cys) c.355-446G>T (n.355-446G>T) c.427-446G>T (n.427-446G>T) c.212-79G>T c.355G>T (p.Gly119Cys) c.655G>T (p.Gly219Cys) c.610G>T (p.Gly204Cys) c.532G>T (p.Gly178Cys) c.424+1054G>T c.388G>T (p.Gly130Cys) c.*465G>T (n.*465G>T) | |
X | g.48905338C= | CA2428428941 | SLC35A2 | c.571G= (p.Gly191=) c.355-446G= (n.355-446G=) c.427-446G= (n.427-446G=) c.212-79G= c.355G= (p.Gly119=) c.655G= (p.Gly219=) c.610G= (p.Gly204=) c.532G= (p.Gly178=) c.424+1054G= c.388G= (p.Gly130=) c.*465G= (n.*465G=) | |
X | g.48905338C>G | CA412895681 | SLC35A2 | c.571G>C (p.Gly191Arg) c.355-446G>C (n.355-446G>C) c.427-446G>C (n.427-446G>C) c.212-79G>C c.355G>C (p.Gly119Arg) c.655G>C (p.Gly219Arg) c.610G>C (p.Gly204Arg) c.532G>C (p.Gly178Arg) c.424+1054G>C c.388G>C (p.Gly130Arg) c.*465G>C (n.*465G>C) | |
X | g.48905338C>T | CA10406113 | SLC35A2 | c.571G>A (p.Gly191Ser) c.355-446G>A (n.355-446G>A) c.427-446G>A (n.427-446G>A) c.212-79G>A c.355G>A (p.Gly119Ser) c.655G>A (p.Gly219Ser) c.610G>A (p.Gly204Ser) c.532G>A (p.Gly178Ser) c.424+1054G>A c.388G>A (p.Gly130Ser) c.*465G>A (n.*465G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905339T>A | CA516360277 | SLC35A2 | c.570A>T (p.Gly190=) c.355-447A>T (n.355-447A>T) c.427-447A>T (n.427-447A>T) c.212-80A>T c.354A>T (p.Gly118=) c.654A>T (p.Gly218=) c.609A>T (p.Gly203=) c.531A>T (p.Gly177=) c.424+1053A>T c.387A>T (p.Gly129=) c.*464A>T (n.*464A>T) | |
X | g.48905339T>C | CA516360278 | SLC35A2 | c.570A>G (p.Gly190=) c.355-447A>G (n.355-447A>G) c.427-447A>G (n.427-447A>G) c.212-80A>G c.354A>G (p.Gly118=) c.654A>G (p.Gly218=) c.609A>G (p.Gly203=) c.531A>G (p.Gly177=) c.424+1053A>G c.387A>G (p.Gly129=) c.*464A>G (n.*464A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905339T>G | CA516360279 | SLC35A2 | c.570A>C (p.Gly190=) c.355-447A>C (n.355-447A>C) c.427-447A>C (n.427-447A>C) c.212-80A>C c.354A>C (p.Gly118=) c.654A>C (p.Gly218=) c.609A>C (p.Gly203=) c.531A>C (p.Gly177=) c.424+1053A>C c.387A>C (p.Gly129=) c.*464A>C (n.*464A>C) | |
X | g.48905339T= | CA2428428942 | SLC35A2 | c.570A= (p.Gly190=) c.355-447A= (n.355-447A=) c.427-447A= (n.427-447A=) c.212-80A= c.354A= (p.Gly118=) c.654A= (p.Gly218=) c.609A= (p.Gly203=) c.531A= (p.Gly177=) c.424+1053A= c.387A= (p.Gly129=) c.*464A= (n.*464A=) | |
X | g.48905340C>A | CA412895682 | SLC35A2 | c.569G>T (p.Gly190Val) c.355-448G>T (n.355-448G>T) c.427-448G>T (n.427-448G>T) c.212-81G>T c.353G>T (p.Gly118Val) c.653G>T (p.Gly218Val) c.608G>T (p.Gly203Val) c.530G>T (p.Gly177Val) c.424+1052G>T c.386G>T (p.Gly129Val) c.*463G>T (n.*463G>T) | |
X | g.48905340C>G | CA412895683 | SLC35A2 | c.569G>C (p.Gly190Ala) c.355-448G>C (n.355-448G>C) c.427-448G>C (n.427-448G>C) c.212-81G>C c.353G>C (p.Gly118Ala) c.653G>C (p.Gly218Ala) c.608G>C (p.Gly203Ala) c.530G>C (p.Gly177Ala) c.424+1052G>C c.386G>C (p.Gly129Ala) c.*463G>C (n.*463G>C) | |
X | g.48905340C>T | CA412895684 | SLC35A2 | c.569G>A (p.Gly190Glu) c.355-448G>A (n.355-448G>A) c.427-448G>A (n.427-448G>A) c.212-81G>A c.353G>A (p.Gly118Glu) c.653G>A (p.Gly218Glu) c.608G>A (p.Gly203Glu) c.530G>A (p.Gly177Glu) c.424+1052G>A c.386G>A (p.Gly129Glu) c.*463G>A (n.*463G>A) | |
X | g.48905344dup | CA2695233841 | SLC35A2 | c.569dup (p.Gly191ArgfsTer?) c.355-448dup (n.355-448dup) c.427-448dup (n.427-448dup) c.212-81dup c.353dup (p.Gly119ArgfsTer?) c.653dup (p.Gly219ArgfsTer?) c.608dup (p.Gly204ArgfsTer?) c.530dup (p.Gly178ArgfsTer?) c.424+1052dup c.386dup (p.Gly130ArgfsTer?) c.*463dup (n.*463dup) | |
X | g.48905344del | CA2820821199 | SLC35A2 | c.569del (p.Gly190GlufsTer?) c.355-448del (n.355-448del) c.427-448del (n.427-448del) c.212-81del c.353del (p.Gly118GlufsTer?) c.653del (p.Gly218GlufsTer?) c.608del (p.Gly203GlufsTer?) c.530del (p.Gly177GlufsTer?) c.424+1052del c.386del (p.Gly129GlufsTer?) c.*463del (n.*463del) | |
X | g.48905341C>A | CA412895685 | SLC35A2 | c.568G>T (p.Gly190Ter) c.355-449G>T (n.355-449G>T) c.427-449G>T (n.427-449G>T) c.212-82G>T c.352G>T (p.Gly118Ter) c.652G>T (p.Gly218Ter) c.607G>T (p.Gly203Ter) c.529G>T (p.Gly177Ter) c.424+1051G>T c.385G>T (p.Gly129Ter) c.*462G>T (n.*462G>T) | |
X | g.48905341C= | CA2428428943 | SLC35A2 | c.568G= (p.Gly190=) c.355-449G= (n.355-449G=) c.427-449G= (n.427-449G=) c.212-82G= c.352G= (p.Gly118=) c.652G= (p.Gly218=) c.607G= (p.Gly203=) c.529G= (p.Gly177=) c.424+1051G= c.385G= (p.Gly129=) c.*462G= (n.*462G=) | |
X | g.48905341C>G | CA412895686 | SLC35A2 | c.568G>C (p.Gly190Arg) c.355-449G>C (n.355-449G>C) c.427-449G>C (n.427-449G>C) c.212-82G>C c.352G>C (p.Gly118Arg) c.652G>C (p.Gly218Arg) c.607G>C (p.Gly203Arg) c.529G>C (p.Gly177Arg) c.424+1051G>C c.385G>C (p.Gly129Arg) c.*462G>C (n.*462G>C) | |
X | g.48905341C>T | CA412895687 | SLC35A2 | c.568G>A (p.Gly190Arg) c.355-449G>A (n.355-449G>A) c.427-449G>A (n.427-449G>A) c.212-82G>A c.352G>A (p.Gly118Arg) c.652G>A (p.Gly218Arg) c.607G>A (p.Gly203Arg) c.529G>A (p.Gly177Arg) c.424+1051G>A c.385G>A (p.Gly129Arg) c.*462G>A (n.*462G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905342C>A | CA516360281 | SLC35A2 | c.567G>T (p.Gly189=) c.355-450G>T (n.355-450G>T) c.427-450G>T (n.427-450G>T) c.212-83G>T c.351G>T (p.Gly117=) c.651G>T (p.Gly217=) c.606G>T (p.Gly202=) c.528G>T (p.Gly176=) c.424+1050G>T c.384G>T (p.Gly128=) c.*461G>T (n.*461G>T) | |
X | g.48905342C= | CA2428428944 | SLC35A2 | c.567G= (p.Gly189=) c.355-450G= (n.355-450G=) c.427-450G= (n.427-450G=) c.212-83G= c.351G= (p.Gly117=) c.651G= (p.Gly217=) c.606G= (p.Gly202=) c.528G= (p.Gly176=) c.424+1050G= c.384G= (p.Gly128=) c.*461G= (n.*461G=) | |
X | g.48905342C>G | CA516360282 | SLC35A2 | c.567G>C (p.Gly189=) c.355-450G>C (n.355-450G>C) c.427-450G>C (n.427-450G>C) c.212-83G>C c.351G>C (p.Gly117=) c.651G>C (p.Gly217=) c.606G>C (p.Gly202=) c.528G>C (p.Gly176=) c.424+1050G>C c.384G>C (p.Gly128=) c.*461G>C (n.*461G>C) | |
X | g.48905342C>T | CA10406114 | SLC35A2 | c.567G>A (p.Gly189=) c.355-450G>A (n.355-450G>A) c.427-450G>A (n.427-450G>A) c.212-83G>A c.351G>A (p.Gly117=) c.651G>A (p.Gly217=) c.606G>A (p.Gly202=) c.528G>A (p.Gly176=) c.424+1050G>A c.384G>A (p.Gly128=) c.*461G>A (n.*461G>A) | dbSNP ExAC gnomAD v2 |
X | g.48905343C>A | CA412895688 | SLC35A2 | c.566G>T (p.Gly189Val) c.355-451G>T (n.355-451G>T) c.427-451G>T (n.427-451G>T) c.212-84G>T c.350G>T (p.Gly117Val) c.650G>T (p.Gly217Val) c.605G>T (p.Gly202Val) c.527G>T (p.Gly176Val) c.424+1049G>T c.383G>T (p.Gly128Val) c.*460G>T (n.*460G>T) | |
X | g.48905343C= | CA2428428945 | SLC35A2 | c.566G= (p.Gly189=) c.355-451G= (n.355-451G=) c.427-451G= (n.427-451G=) c.212-84G= c.350G= (p.Gly117=) c.650G= (p.Gly217=) c.605G= (p.Gly202=) c.527G= (p.Gly176=) c.424+1049G= c.383G= (p.Gly128=) c.*460G= (n.*460G=) | |
X | g.48905343C>G | CA412895689 | SLC35A2 | c.566G>C (p.Gly189Ala) c.355-451G>C (n.355-451G>C) c.427-451G>C (n.427-451G>C) c.212-84G>C c.350G>C (p.Gly117Ala) c.650G>C (p.Gly217Ala) c.605G>C (p.Gly202Ala) c.527G>C (p.Gly176Ala) c.424+1049G>C c.383G>C (p.Gly128Ala) c.*460G>C (n.*460G>C) | |
X | g.48905343C>T | CA10406115 | SLC35A2 | c.566G>A (p.Gly189Glu) c.355-451G>A (n.355-451G>A) c.427-451G>A (n.427-451G>A) c.212-84G>A c.350G>A (p.Gly117Glu) c.650G>A (p.Gly217Glu) c.605G>A (p.Gly202Glu) c.527G>A (p.Gly176Glu) c.424+1049G>A c.383G>A (p.Gly128Glu) c.*460G>A (n.*460G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905344C>A | CA412895690 | SLC35A2 | c.565G>T (p.Gly189Trp) c.355-452G>T (n.355-452G>T) c.427-452G>T (n.427-452G>T) c.212-85G>T c.349G>T (p.Gly117Trp) c.649G>T (p.Gly217Trp) c.604G>T (p.Gly202Trp) c.526G>T (p.Gly176Trp) c.424+1048G>T c.382G>T (p.Gly128Trp) c.*459G>T (n.*459G>T) | gnomAD v4 |
X | g.48905344C= | CA2428428946 | SLC35A2 | c.565G= (p.Gly189=) c.355-452G= (n.355-452G=) c.427-452G= (n.427-452G=) c.212-85G= c.349G= (p.Gly117=) c.649G= (p.Gly217=) c.604G= (p.Gly202=) c.526G= (p.Gly176=) c.424+1048G= c.382G= (p.Gly128=) c.*459G= (n.*459G=) | |
X | g.48905344C>G | CA10406116 | SLC35A2 | c.565G>C (p.Gly189Arg) c.355-452G>C (n.355-452G>C) c.427-452G>C (n.427-452G>C) c.212-85G>C c.349G>C (p.Gly117Arg) c.649G>C (p.Gly217Arg) c.604G>C (p.Gly202Arg) c.526G>C (p.Gly176Arg) c.424+1048G>C c.382G>C (p.Gly128Arg) c.*459G>C (n.*459G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905344C>T | CA412895691 | SLC35A2 | c.565G>A (p.Gly189Arg) c.355-452G>A (n.355-452G>A) c.427-452G>A (n.427-452G>A) c.212-85G>A c.349G>A (p.Gly117Arg) c.649G>A (p.Gly217Arg) c.604G>A (p.Gly202Arg) c.526G>A (p.Gly176Arg) c.424+1048G>A c.382G>A (p.Gly128Arg) c.*459G>A (n.*459G>A) | |
X | g.48905345A= | CA2428428947 | SLC35A2 | c.564T= (p.Gly188=) c.355-453T= (n.355-453T=) c.427-453T= (n.427-453T=) c.212-86T= c.348T= (p.Gly116=) c.648T= (p.Gly216=) c.603T= (p.Gly201=) c.525T= (p.Gly175=) c.424+1047T= c.381T= (p.Gly127=) c.*458T= (n.*458T=) | |
X | g.48905345A>C | CA516360286 | SLC35A2 | c.564T>G (p.Gly188=) c.355-453T>G (n.355-453T>G) c.427-453T>G (n.427-453T>G) c.212-86T>G c.348T>G (p.Gly116=) c.648T>G (p.Gly216=) c.603T>G (p.Gly201=) c.525T>G (p.Gly175=) c.424+1047T>G c.381T>G (p.Gly127=) c.*458T>G (n.*458T>G) | dbSNP gnomAD v2 |
X | g.48905345A>G | CA516360287 | SLC35A2 | c.564T>C (p.Gly188=) c.355-453T>C (n.355-453T>C) c.427-453T>C (n.427-453T>C) c.212-86T>C c.348T>C (p.Gly116=) c.648T>C (p.Gly216=) c.603T>C (p.Gly201=) c.525T>C (p.Gly175=) c.424+1047T>C c.381T>C (p.Gly127=) c.*458T>C (n.*458T>C) | |
X | g.48905345A>T | CA516360288 | SLC35A2 | c.564T>A (p.Gly188=) c.355-453T>A (n.355-453T>A) c.427-453T>A (n.427-453T>A) c.212-86T>A c.348T>A (p.Gly116=) c.648T>A (p.Gly216=) c.603T>A (p.Gly201=) c.525T>A (p.Gly175=) c.424+1047T>A c.381T>A (p.Gly127=) c.*458T>A (n.*458T>A) | |
X | g.48905346C>A | CA412895692 | SLC35A2 | c.563G>T (p.Gly188Val) c.355-454G>T (n.355-454G>T) c.427-454G>T (n.427-454G>T) c.212-87G>T c.347G>T (p.Gly116Val) c.647G>T (p.Gly216Val) c.602G>T (p.Gly201Val) c.524G>T (p.Gly175Val) c.424+1046G>T c.380G>T (p.Gly127Val) c.*457G>T (n.*457G>T) | |
X | g.48905346C= | CA2428428948 | SLC35A2 | c.563G= (p.Gly188=) c.355-454G= (n.355-454G=) c.427-454G= (n.427-454G=) c.212-87G= c.347G= (p.Gly116=) c.647G= (p.Gly216=) c.602G= (p.Gly201=) c.524G= (p.Gly175=) c.424+1046G= c.380G= (p.Gly127=) c.*457G= (n.*457G=) | |
X | g.48905346C>G | CA412895693 | SLC35A2 | c.563G>C (p.Gly188Ala) c.355-454G>C (n.355-454G>C) c.427-454G>C (n.427-454G>C) c.212-87G>C c.347G>C (p.Gly116Ala) c.647G>C (p.Gly216Ala) c.602G>C (p.Gly201Ala) c.524G>C (p.Gly175Ala) c.424+1046G>C c.380G>C (p.Gly127Ala) c.*457G>C (n.*457G>C) | |
X | g.48905346C>T | CA10406117 | SLC35A2 | c.563G>A (p.Gly188Asp) c.355-454G>A (n.355-454G>A) c.427-454G>A (n.427-454G>A) c.212-87G>A c.347G>A (p.Gly116Asp) c.647G>A (p.Gly216Asp) c.602G>A (p.Gly201Asp) c.524G>A (p.Gly175Asp) c.424+1046G>A c.380G>A (p.Gly127Asp) c.*457G>A (n.*457G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905347C>A | CA412895696 | SLC35A2 | c.562G>T (p.Gly188Cys) c.355-455G>T (n.355-455G>T) c.427-455G>T (n.427-455G>T) c.212-88G>T c.346G>T (p.Gly116Cys) c.646G>T (p.Gly216Cys) c.601G>T (p.Gly201Cys) c.523G>T (p.Gly175Cys) c.424+1045G>T c.379G>T (p.Gly127Cys) c.*456G>T (n.*456G>T) | |
X | g.48905347C= | CA2428428949 | SLC35A2 | c.562G= (p.Gly188=) c.355-455G= (n.355-455G=) c.427-455G= (n.427-455G=) c.212-88G= c.346G= (p.Gly116=) c.646G= (p.Gly216=) c.601G= (p.Gly201=) c.523G= (p.Gly175=) c.424+1045G= c.379G= (p.Gly127=) c.*456G= (n.*456G=) | |
X | g.48905347C>G | CA329098965 | SLC35A2 | c.562G>C (p.Gly188Arg) c.355-455G>C (n.355-455G>C) c.427-455G>C (n.427-455G>C) c.212-88G>C c.346G>C (p.Gly116Arg) c.646G>C (p.Gly216Arg) c.601G>C (p.Gly201Arg) c.523G>C (p.Gly175Arg) c.424+1045G>C c.379G>C (p.Gly127Arg) c.*456G>C (n.*456G>C) | dbSNP |
X | g.48905347C>T | CA412895697 | SLC35A2 | c.562G>A (p.Gly188Ser) c.355-455G>A (n.355-455G>A) c.427-455G>A (n.427-455G>A) c.212-88G>A c.346G>A (p.Gly116Ser) c.646G>A (p.Gly216Ser) c.601G>A (p.Gly201Ser) c.523G>A (p.Gly175Ser) c.424+1045G>A c.379G>A (p.Gly127Ser) c.*456G>A (n.*456G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905348G>A | CA10406118 | SLC35A2 | c.561C>T (p.Ala187=) c.355-456C>T (n.355-456C>T) c.427-456C>T (n.427-456C>T) c.212-89C>T c.345C>T (p.Ala115=) c.645C>T (p.Ala215=) c.600C>T (p.Ala200=) c.522C>T (p.Ala174=) c.424+1044C>T c.378C>T (p.Ala126=) c.*455C>T (n.*455C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905348G>C | CA516360292 | SLC35A2 | c.561C>G (p.Ala187=) c.355-456C>G (n.355-456C>G) c.427-456C>G (n.427-456C>G) c.212-89C>G c.345C>G (p.Ala115=) c.645C>G (p.Ala215=) c.600C>G (p.Ala200=) c.522C>G (p.Ala174=) c.424+1044C>G c.378C>G (p.Ala126=) c.*455C>G (n.*455C>G) | |
X | g.48905348G= | CA2428428950 | SLC35A2 | c.561C= (p.Ala187=) c.355-456C= (n.355-456C=) c.427-456C= (n.427-456C=) c.212-89C= c.345C= (p.Ala115=) c.645C= (p.Ala215=) c.600C= (p.Ala200=) c.522C= (p.Ala174=) c.424+1044C= c.378C= (p.Ala126=) c.*455C= (n.*455C=) | |
X | g.48905348G>T | CA516360293 | SLC35A2 | c.561C>A (p.Ala187=) c.355-456C>A (n.355-456C>A) c.427-456C>A (n.427-456C>A) c.212-89C>A c.345C>A (p.Ala115=) c.645C>A (p.Ala215=) c.600C>A (p.Ala200=) c.522C>A (p.Ala174=) c.424+1044C>A c.378C>A (p.Ala126=) c.*455C>A (n.*455C>A) | gnomAD v4 |
X | g.48905349G>A | CA412895699 | SLC35A2 | c.560C>T (p.Ala187Val) c.355-457C>T (n.355-457C>T) c.427-457C>T (n.427-457C>T) c.212-90C>T c.344C>T (p.Ala115Val) c.644C>T (p.Ala215Val) c.599C>T (p.Ala200Val) c.521C>T (p.Ala174Val) c.424+1043C>T c.377C>T (p.Ala126Val) c.*454C>T (n.*454C>T) | gnomAD v4 |
X | g.48905349G>C | CA412895700 | SLC35A2 | c.560C>G (p.Ala187Gly) c.355-457C>G (n.355-457C>G) c.427-457C>G (n.427-457C>G) c.212-90C>G c.344C>G (p.Ala115Gly) c.644C>G (p.Ala215Gly) c.599C>G (p.Ala200Gly) c.521C>G (p.Ala174Gly) c.424+1043C>G c.377C>G (p.Ala126Gly) c.*454C>G (n.*454C>G) | |
X | g.48905349G>T | CA412895698 | SLC35A2 | c.560C>A (p.Ala187Asp) c.355-457C>A (n.355-457C>A) c.427-457C>A (n.427-457C>A) c.212-90C>A c.344C>A (p.Ala115Asp) c.644C>A (p.Ala215Asp) c.599C>A (p.Ala200Asp) c.521C>A (p.Ala174Asp) c.424+1043C>A c.377C>A (p.Ala126Asp) c.*454C>A (n.*454C>A) | |
X | g.48905350C>A | CA412895701 | SLC35A2 | c.559G>T (p.Ala187Ser) c.355-458G>T (n.355-458G>T) c.427-458G>T (n.427-458G>T) c.212-91G>T c.343G>T (p.Ala115Ser) c.643G>T (p.Ala215Ser) c.598G>T (p.Ala200Ser) c.520G>T (p.Ala174Ser) c.424+1042G>T c.376G>T (p.Ala126Ser) c.*453G>T (n.*453G>T) | |
X | g.48905350C>G | CA412895702 | SLC35A2 | c.559G>C (p.Ala187Pro) c.355-458G>C (n.355-458G>C) c.427-458G>C (n.427-458G>C) c.212-91G>C c.343G>C (p.Ala115Pro) c.643G>C (p.Ala215Pro) c.598G>C (p.Ala200Pro) c.520G>C (p.Ala174Pro) c.424+1042G>C c.376G>C (p.Ala126Pro) c.*453G>C (n.*453G>C) | |
X | g.48905350C>T | CA412895703 | SLC35A2 | c.559G>A (p.Ala187Thr) c.355-458G>A (n.355-458G>A) c.427-458G>A (n.427-458G>A) c.212-91G>A c.343G>A (p.Ala115Thr) c.643G>A (p.Ala215Thr) c.598G>A (p.Ala200Thr) c.520G>A (p.Ala174Thr) c.424+1042G>A c.376G>A (p.Ala126Thr) c.*453G>A (n.*453G>A) | |
X | g.48905351T>A | CA412895704 | SLC35A2 | c.558A>T (p.Gln186His) c.355-459A>T (n.355-459A>T) c.427-459A>T (n.427-459A>T) c.212-92A>T c.342A>T (p.Gln114His) c.642A>T (p.Gln214His) c.597A>T (p.Gln199His) c.519A>T (p.Gln173His) c.424+1041A>T c.375A>T (p.Gln125His) c.*452A>T (n.*452A>T) | |
X | g.48905351T>C | CA516360294 | SLC35A2 | c.558A>G (p.Gln186=) c.355-459A>G (n.355-459A>G) c.427-459A>G (n.427-459A>G) c.212-92A>G c.342A>G (p.Gln114=) c.642A>G (p.Gln214=) c.597A>G (p.Gln199=) c.519A>G (p.Gln173=) c.424+1041A>G c.375A>G (p.Gln125=) c.*452A>G (n.*452A>G) | |
X | g.48905351T>G | CA412895705 | SLC35A2 | c.558A>C (p.Gln186His) c.355-459A>C (n.355-459A>C) c.427-459A>C (n.427-459A>C) c.212-92A>C c.342A>C (p.Gln114His) c.642A>C (p.Gln214His) c.597A>C (p.Gln199His) c.519A>C (p.Gln173His) c.424+1041A>C c.375A>C (p.Gln125His) c.*452A>C (n.*452A>C) | |
X | g.48905352T>A | CA412895706 | SLC35A2 | c.557A>T (p.Gln186Leu) c.355-460A>T (n.355-460A>T) c.427-460A>T (n.427-460A>T) c.212-93A>T c.341A>T (p.Gln114Leu) c.641A>T (p.Gln214Leu) c.596A>T (p.Gln199Leu) c.518A>T (p.Gln173Leu) c.424+1040A>T c.374A>T (p.Gln125Leu) c.*451A>T (n.*451A>T) | |
X | g.48905352T>C | CA412895707 | SLC35A2 | c.557A>G (p.Gln186Arg) c.355-460A>G (n.355-460A>G) c.427-460A>G (n.427-460A>G) c.212-93A>G c.341A>G (p.Gln114Arg) c.641A>G (p.Gln214Arg) c.596A>G (p.Gln199Arg) c.518A>G (p.Gln173Arg) c.424+1040A>G c.374A>G (p.Gln125Arg) c.*451A>G (n.*451A>G) | |
X | g.48905352T>G | CA412895708 | SLC35A2 | c.557A>C (p.Gln186Pro) c.355-460A>C (n.355-460A>C) c.427-460A>C (n.427-460A>C) c.212-93A>C c.341A>C (p.Gln114Pro) c.641A>C (p.Gln214Pro) c.596A>C (p.Gln199Pro) c.518A>C (p.Gln173Pro) c.424+1040A>C c.374A>C (p.Gln125Pro) c.*451A>C (n.*451A>C) | |
X | g.48905353G>A | CA412895709 | SLC35A2 | c.556C>T (p.Gln186Ter) c.355-461C>T (n.355-461C>T) c.427-461C>T (n.427-461C>T) c.212-94C>T c.340C>T (p.Gln114Ter) c.640C>T (p.Gln214Ter) c.595C>T (p.Gln199Ter) c.517C>T (p.Gln173Ter) c.424+1039C>T c.373C>T (p.Gln125Ter) c.*450C>T (n.*450C>T) | gnomAD v4 |
X | g.48905353G>C | CA412895710 | SLC35A2 | c.556C>G (p.Gln186Glu) c.355-461C>G (n.355-461C>G) c.427-461C>G (n.427-461C>G) c.212-94C>G c.340C>G (p.Gln114Glu) c.640C>G (p.Gln214Glu) c.595C>G (p.Gln199Glu) c.517C>G (p.Gln173Glu) c.424+1039C>G c.373C>G (p.Gln125Glu) c.*450C>G (n.*450C>G) | gnomAD v4 COSMIC |
X | g.48905353G>T | CA412895711 | SLC35A2 | c.556C>A (p.Gln186Lys) c.355-461C>A (n.355-461C>A) c.427-461C>A (n.427-461C>A) c.212-94C>A c.340C>A (p.Gln114Lys) c.640C>A (p.Gln214Lys) c.595C>A (p.Gln199Lys) c.517C>A (p.Gln173Lys) c.424+1039C>A c.373C>A (p.Gln125Lys) c.*450C>A (n.*450C>A) | |
X | g.48905354C>A | CA412895712 | SLC35A2 | c.555G>T (p.Gln185His) c.355-462G>T (n.355-462G>T) c.427-462G>T (n.427-462G>T) c.212-95G>T c.339G>T (p.Gln113His) c.639G>T (p.Gln213His) c.594G>T (p.Gln198His) c.516G>T (p.Gln172His) c.424+1038G>T c.372G>T (p.Gln124His) c.*449G>T (n.*449G>T) | gnomAD v4 |
X | g.48905354C>G | CA412895713 | SLC35A2 | c.555G>C (p.Gln185His) c.355-462G>C (n.355-462G>C) c.427-462G>C (n.427-462G>C) c.212-95G>C c.339G>C (p.Gln113His) c.639G>C (p.Gln213His) c.594G>C (p.Gln198His) c.516G>C (p.Gln172His) c.424+1038G>C c.372G>C (p.Gln124His) c.*449G>C (n.*449G>C) | |
X | g.48905354C>T | CA516360296 | SLC35A2 | c.555G>A (p.Gln185=) c.355-462G>A (n.355-462G>A) c.427-462G>A (n.427-462G>A) c.212-95G>A c.339G>A (p.Gln113=) c.639G>A (p.Gln213=) c.594G>A (p.Gln198=) c.516G>A (p.Gln172=) c.424+1038G>A c.372G>A (p.Gln124=) c.*449G>A (n.*449G>A) | |
X | g.48905355del | CA2555358581 | SLC35A2 | c.554del (p.Gln185ArgfsTer?) c.355-463del (n.355-463del) c.427-463del (n.427-463del) c.212-96del c.338del (p.Gln113ArgfsTer?) c.638del (p.Gln213ArgfsTer?) c.593del (p.Gln198ArgfsTer?) c.515del (p.Gln172ArgfsTer?) c.424+1037del c.371del (p.Gln124ArgfsTer?) c.*448del (n.*448del) | |
X | g.48905355T>A | CA412895716 | SLC35A2 | c.554A>T (p.Gln185Leu) c.355-463A>T (n.355-463A>T) c.427-463A>T (n.427-463A>T) c.212-96A>T c.338A>T (p.Gln113Leu) c.638A>T (p.Gln213Leu) c.593A>T (p.Gln198Leu) c.515A>T (p.Gln172Leu) c.424+1037A>T c.371A>T (p.Gln124Leu) c.*448A>T (n.*448A>T) | |
X | g.48905355T>C | CA412895715 | SLC35A2 | c.554A>G (p.Gln185Arg) c.355-463A>G (n.355-463A>G) c.427-463A>G (n.427-463A>G) c.212-96A>G c.338A>G (p.Gln113Arg) c.638A>G (p.Gln213Arg) c.593A>G (p.Gln198Arg) c.515A>G (p.Gln172Arg) c.424+1037A>G c.371A>G (p.Gln124Arg) c.*448A>G (n.*448A>G) | dbSNP |
X | g.48905355T>G | CA412895714 | SLC35A2 | c.554A>C (p.Gln185Pro) c.355-463A>C (n.355-463A>C) c.427-463A>C (n.427-463A>C) c.212-96A>C c.338A>C (p.Gln113Pro) c.638A>C (p.Gln213Pro) c.593A>C (p.Gln198Pro) c.515A>C (p.Gln172Pro) c.424+1037A>C c.371A>C (p.Gln124Pro) c.*448A>C (n.*448A>C) | |
X | g.48905355T= | CA2428428951 | SLC35A2 | c.554A= (p.Gln185=) c.355-463A= (n.355-463A=) c.427-463A= (n.427-463A=) c.212-96A= c.338A= (p.Gln113=) c.638A= (p.Gln213=) c.593A= (p.Gln198=) c.515A= (p.Gln172=) c.424+1037A= c.371A= (p.Gln124=) c.*448A= (n.*448A=) | |
X | g.48905356G>A | CA412895717 | SLC35A2 | c.553C>T (p.Gln185Ter) c.355-464C>T (n.355-464C>T) c.427-464C>T (n.427-464C>T) c.212-97C>T c.337C>T (p.Gln113Ter) c.637C>T (p.Gln213Ter) c.592C>T (p.Gln198Ter) c.514C>T (p.Gln172Ter) c.424+1036C>T c.370C>T (p.Gln124Ter) c.*447C>T (n.*447C>T) | |
X | g.48905356G>C | CA412895718 | SLC35A2 | c.553C>G (p.Gln185Glu) c.355-464C>G (n.355-464C>G) c.427-464C>G (n.427-464C>G) c.212-97C>G c.337C>G (p.Gln113Glu) c.637C>G (p.Gln213Glu) c.592C>G (p.Gln198Glu) c.514C>G (p.Gln172Glu) c.424+1036C>G c.370C>G (p.Gln124Glu) c.*447C>G (n.*447C>G) | |
X | g.48905356G>T | CA412895719 | SLC35A2 | c.553C>A (p.Gln185Lys) c.355-464C>A (n.355-464C>A) c.427-464C>A (n.427-464C>A) c.212-97C>A c.337C>A (p.Gln113Lys) c.637C>A (p.Gln213Lys) c.592C>A (p.Gln198Lys) c.514C>A (p.Gln172Lys) c.424+1036C>A c.370C>A (p.Gln124Lys) c.*447C>A (n.*447C>A) | |
X | g.48905357T>A | CA516360297 | SLC35A2 | c.552A>T (p.Ala184=) c.355-465A>T (n.355-465A>T) c.427-465A>T (n.427-465A>T) c.212-98A>T c.336A>T (p.Ala112=) c.636A>T (p.Ala212=) c.591A>T (p.Ala197=) c.513A>T (p.Ala171=) c.424+1035A>T c.369A>T (p.Ala123=) c.*446A>T (n.*446A>T) | |
X | g.48905357T>C | CA516360298 | SLC35A2 | c.552A>G (p.Ala184=) c.355-465A>G (n.355-465A>G) c.427-465A>G (n.427-465A>G) c.212-98A>G c.336A>G (p.Ala112=) c.636A>G (p.Ala212=) c.591A>G (p.Ala197=) c.513A>G (p.Ala171=) c.424+1035A>G c.369A>G (p.Ala123=) c.*446A>G (n.*446A>G) | |
X | g.48905357T>G | CA516360300 | SLC35A2 | c.552A>C (p.Ala184=) c.355-465A>C (n.355-465A>C) c.427-465A>C (n.427-465A>C) c.212-98A>C c.336A>C (p.Ala112=) c.636A>C (p.Ala212=) c.591A>C (p.Ala197=) c.513A>C (p.Ala171=) c.424+1035A>C c.369A>C (p.Ala123=) c.*446A>C (n.*446A>C) | |
X | g.48905358G>A | CA412895720 | SLC35A2 | c.551C>T (p.Ala184Val) c.355-466C>T (n.355-466C>T) c.427-466C>T (n.427-466C>T) c.212-99C>T c.335C>T (p.Ala112Val) c.635C>T (p.Ala212Val) c.590C>T (p.Ala197Val) c.512C>T (p.Ala171Val) c.424+1034C>T c.368C>T (p.Ala123Val) c.*445C>T (n.*445C>T) | |
X | g.48905358G>C | CA412895721 | SLC35A2 | c.551C>G (p.Ala184Gly) c.355-466C>G (n.355-466C>G) c.427-466C>G (n.427-466C>G) c.212-99C>G c.335C>G (p.Ala112Gly) c.635C>G (p.Ala212Gly) c.590C>G (p.Ala197Gly) c.512C>G (p.Ala171Gly) c.424+1034C>G c.368C>G (p.Ala123Gly) c.*445C>G (n.*445C>G) | |
X | g.48905358G>T | CA412895722 | SLC35A2 | c.551C>A (p.Ala184Glu) c.355-466C>A (n.355-466C>A) c.427-466C>A (n.427-466C>A) c.212-99C>A c.335C>A (p.Ala112Glu) c.635C>A (p.Ala212Glu) c.590C>A (p.Ala197Glu) c.512C>A (p.Ala171Glu) c.424+1034C>A c.368C>A (p.Ala123Glu) c.*445C>A (n.*445C>A) | |
X | g.48905359C>A | CA412895723 | SLC35A2 | c.550G>T (p.Ala184Ser) c.355-467G>T (n.355-467G>T) c.427-467G>T (n.427-467G>T) c.212-100G>T c.334G>T (p.Ala112Ser) c.634G>T (p.Ala212Ser) c.589G>T (p.Ala197Ser) c.511G>T (p.Ala171Ser) c.424+1033G>T c.367G>T (p.Ala123Ser) c.*444G>T (n.*444G>T) | |
X | g.48905359C>G | CA412895724 | SLC35A2 | c.550G>C (p.Ala184Pro) c.355-467G>C (n.355-467G>C) c.427-467G>C (n.427-467G>C) c.212-100G>C c.334G>C (p.Ala112Pro) c.634G>C (p.Ala212Pro) c.589G>C (p.Ala197Pro) c.511G>C (p.Ala171Pro) c.424+1033G>C c.367G>C (p.Ala123Pro) c.*444G>C (n.*444G>C) | |
X | g.48905359C>T | CA412895725 | SLC35A2 | c.550G>A (p.Ala184Thr) c.355-467G>A (n.355-467G>A) c.427-467G>A (n.427-467G>A) c.212-100G>A c.334G>A (p.Ala112Thr) c.634G>A (p.Ala212Thr) c.589G>A (p.Ala197Thr) c.511G>A (p.Ala171Thr) c.424+1033G>A c.367G>A (p.Ala123Thr) c.*444G>A (n.*444G>A) | |
X | g.48905360C>A | CA412895726 | SLC35A2 | c.549G>T (p.Gln183His) c.355-468G>T (n.355-468G>T) c.427-468G>T (n.427-468G>T) c.212-101G>T c.333G>T (p.Gln111His) c.633G>T (p.Gln211His) c.588G>T (p.Gln196His) c.510G>T (p.Gln170His) c.424+1032G>T c.366G>T (p.Gln122His) c.*443G>T (n.*443G>T) | |
X | g.48905360C>G | CA412895727 | SLC35A2 | c.549G>C (p.Gln183His) c.355-468G>C (n.355-468G>C) c.427-468G>C (n.427-468G>C) c.212-101G>C c.333G>C (p.Gln111His) c.633G>C (p.Gln211His) c.588G>C (p.Gln196His) c.510G>C (p.Gln170His) c.424+1032G>C c.366G>C (p.Gln122His) c.*443G>C (n.*443G>C) | |
X | g.48905360C>T | CA516360301 | SLC35A2 | c.549G>A (p.Gln183=) c.355-468G>A (n.355-468G>A) c.427-468G>A (n.427-468G>A) c.212-101G>A c.333G>A (p.Gln111=) c.633G>A (p.Gln211=) c.588G>A (p.Gln196=) c.510G>A (p.Gln170=) c.424+1032G>A c.366G>A (p.Gln122=) c.*443G>A (n.*443G>A) | |
X | g.48905361T>A | CA412895729 | SLC35A2 | c.548A>T (p.Gln183Leu) c.355-469A>T (n.355-469A>T) c.427-469A>T (n.427-469A>T) c.212-102A>T c.332A>T (p.Gln111Leu) c.632A>T (p.Gln211Leu) c.587A>T (p.Gln196Leu) c.509A>T (p.Gln170Leu) c.424+1031A>T c.365A>T (p.Gln122Leu) c.*442A>T (n.*442A>T) | |
X | g.48905361T>C | CA412895731 | SLC35A2 | c.548A>G (p.Gln183Arg) c.355-469A>G (n.355-469A>G) c.427-469A>G (n.427-469A>G) c.212-102A>G c.332A>G (p.Gln111Arg) c.632A>G (p.Gln211Arg) c.587A>G (p.Gln196Arg) c.509A>G (p.Gln170Arg) c.424+1031A>G c.365A>G (p.Gln122Arg) c.*442A>G (n.*442A>G) | gnomAD v4 |
X | g.48905361T>G | CA412895732 | SLC35A2 | c.548A>C (p.Gln183Pro) c.355-469A>C (n.355-469A>C) c.427-469A>C (n.427-469A>C) c.212-102A>C c.332A>C (p.Gln111Pro) c.632A>C (p.Gln211Pro) c.587A>C (p.Gln196Pro) c.509A>C (p.Gln170Pro) c.424+1031A>C c.365A>C (p.Gln122Pro) c.*442A>C (n.*442A>C) | |
X | g.48905362G>A | CA412895734 | SLC35A2 | c.547C>T (p.Gln183Ter) c.355-470C>T (n.355-470C>T) c.427-470C>T (n.427-470C>T) c.212-103C>T c.331C>T (p.Gln111Ter) c.631C>T (p.Gln211Ter) c.586C>T (p.Gln196Ter) c.508C>T (p.Gln170Ter) c.424+1030C>T c.364C>T (p.Gln122Ter) c.*441C>T (n.*441C>T) | |
X | g.48905362G>C | CA412895735 | SLC35A2 | c.547C>G (p.Gln183Glu) c.355-470C>G (n.355-470C>G) c.427-470C>G (n.427-470C>G) c.212-103C>G c.331C>G (p.Gln111Glu) c.631C>G (p.Gln211Glu) c.586C>G (p.Gln196Glu) c.508C>G (p.Gln170Glu) c.424+1030C>G c.364C>G (p.Gln122Glu) c.*441C>G (n.*441C>G) | |
X | g.48905362G>T | CA412895733 | SLC35A2 | c.547C>A (p.Gln183Lys) c.355-470C>A (n.355-470C>A) c.427-470C>A (n.427-470C>A) c.212-103C>A c.331C>A (p.Gln111Lys) c.631C>A (p.Gln211Lys) c.586C>A (p.Gln196Lys) c.508C>A (p.Gln170Lys) c.424+1030C>A c.364C>A (p.Gln122Lys) c.*441C>A (n.*441C>A) | gnomAD v4 |
X | g.48905363G>A | CA516360304 | SLC35A2 | c.546C>T (p.Val182=) c.355-471C>T (n.355-471C>T) c.427-471C>T (n.427-471C>T) c.212-104C>T c.330C>T (p.Val110=) c.630C>T (p.Val210=) c.585C>T (p.Val195=) c.507C>T (p.Val169=) c.424+1029C>T c.363C>T (p.Val121=) c.*440C>T (n.*440C>T) | COSMIC |
X | g.48905363G>C | CA516360305 | SLC35A2 | c.546C>G (p.Val182=) c.355-471C>G (n.355-471C>G) c.427-471C>G (n.427-471C>G) c.212-104C>G c.330C>G (p.Val110=) c.630C>G (p.Val210=) c.585C>G (p.Val195=) c.507C>G (p.Val169=) c.424+1029C>G c.363C>G (p.Val121=) c.*440C>G (n.*440C>G) | |
X | g.48905363G>T | CA516360303 | SLC35A2 | c.546C>A (p.Val182=) c.355-471C>A (n.355-471C>A) c.427-471C>A (n.427-471C>A) c.212-104C>A c.330C>A (p.Val110=) c.630C>A (p.Val210=) c.585C>A (p.Val195=) c.507C>A (p.Val169=) c.424+1029C>A c.363C>A (p.Val121=) c.*440C>A (n.*440C>A) | |
X | g.48905364A>C | CA412895737 | SLC35A2 | c.545T>G (p.Val182Gly) c.355-472T>G (n.355-472T>G) c.427-472T>G (n.427-472T>G) c.212-105T>G c.329T>G (p.Val110Gly) c.629T>G (p.Val210Gly) c.584T>G (p.Val195Gly) c.506T>G (p.Val169Gly) c.424+1028T>G c.362T>G (p.Val121Gly) c.*439T>G (n.*439T>G) | |
X | g.48905364A>G | CA412895740 | SLC35A2 | c.545T>C (p.Val182Ala) c.355-472T>C (n.355-472T>C) c.427-472T>C (n.427-472T>C) c.212-105T>C c.329T>C (p.Val110Ala) c.629T>C (p.Val210Ala) c.584T>C (p.Val195Ala) c.506T>C (p.Val169Ala) c.424+1028T>C c.362T>C (p.Val121Ala) c.*439T>C (n.*439T>C) | |
X | g.48905364A>T | CA412895739 | SLC35A2 | c.545T>A (p.Val182Asp) c.355-472T>A (n.355-472T>A) c.427-472T>A (n.427-472T>A) c.212-105T>A c.329T>A (p.Val110Asp) c.629T>A (p.Val210Asp) c.584T>A (p.Val195Asp) c.506T>A (p.Val169Asp) c.424+1028T>A c.362T>A (p.Val121Asp) c.*439T>A (n.*439T>A) | |
X | g.48905365C>A | CA412895741 | SLC35A2 | c.544G>T (p.Val182Phe) c.355-473G>T (n.355-473G>T) c.427-473G>T (n.427-473G>T) c.212-106G>T c.328G>T (p.Val110Phe) c.628G>T (p.Val210Phe) c.583G>T (p.Val195Phe) c.505G>T (p.Val169Phe) c.424+1027G>T c.361G>T (p.Val121Phe) c.*438G>T (n.*438G>T) | |
X | g.48905365C>G | CA412895743 | SLC35A2 | c.544G>C (p.Val182Leu) c.355-473G>C (n.355-473G>C) c.427-473G>C (n.427-473G>C) c.212-106G>C c.328G>C (p.Val110Leu) c.628G>C (p.Val210Leu) c.583G>C (p.Val195Leu) c.505G>C (p.Val169Leu) c.424+1027G>C c.361G>C (p.Val121Leu) c.*438G>C (n.*438G>C) | |
X | g.48905365C>T | CA412895742 | SLC35A2 | c.544G>A (p.Val182Ile) c.355-473G>A (n.355-473G>A) c.427-473G>A (n.427-473G>A) c.212-106G>A c.328G>A (p.Val110Ile) c.628G>A (p.Val210Ile) c.583G>A (p.Val195Ile) c.505G>A (p.Val169Ile) c.424+1027G>A c.361G>A (p.Val121Ile) c.*438G>A (n.*438G>A) | |
X | g.48905366A= | CA2428428952 | SLC35A2 | c.543T= (p.Ile181=) c.355-474T= (n.355-474T=) c.427-474T= (n.427-474T=) c.212-107T= c.327T= (p.Ile109=) c.627T= (p.Ile209=) c.582T= (p.Ile194=) c.504T= (p.Ile168=) c.424+1026T= c.360T= (p.Ile120=) c.*437T= (n.*437T=) | |
X | g.48905366A>C | CA412895744 | SLC35A2 | c.543T>G (p.Ile181Met) c.355-474T>G (n.355-474T>G) c.427-474T>G (n.427-474T>G) c.212-107T>G c.327T>G (p.Ile109Met) c.627T>G (p.Ile209Met) c.582T>G (p.Ile194Met) c.504T>G (p.Ile168Met) c.424+1026T>G c.360T>G (p.Ile120Met) c.*437T>G (n.*437T>G) | |
X | g.48905366A>G | CA329098983 | SLC35A2 | c.543T>C (p.Ile181=) c.355-474T>C (n.355-474T>C) c.427-474T>C (n.427-474T>C) c.212-107T>C c.327T>C (p.Ile109=) c.627T>C (p.Ile209=) c.582T>C (p.Ile194=) c.504T>C (p.Ile168=) c.424+1026T>C c.360T>C (p.Ile120=) c.*437T>C (n.*437T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905366A>T | CA516360306 | SLC35A2 | c.543T>A (p.Ile181=) c.355-474T>A (n.355-474T>A) c.427-474T>A (n.427-474T>A) c.212-107T>A c.327T>A (p.Ile109=) c.627T>A (p.Ile209=) c.582T>A (p.Ile194=) c.504T>A (p.Ile168=) c.424+1026T>A c.360T>A (p.Ile120=) c.*437T>A (n.*437T>A) | |
X | g.48905367A>C | CA412895745 | SLC35A2 | c.542T>G (p.Ile181Ser) c.355-475T>G (n.355-475T>G) c.427-475T>G (n.427-475T>G) c.212-108T>G c.326T>G (p.Ile109Ser) c.626T>G (p.Ile209Ser) c.581T>G (p.Ile194Ser) c.503T>G (p.Ile168Ser) c.424+1025T>G c.359T>G (p.Ile120Ser) c.*436T>G (n.*436T>G) | |
X | g.48905367A>G | CA412895746 | SLC35A2 | c.542T>C (p.Ile181Thr) c.355-475T>C (n.355-475T>C) c.427-475T>C (n.427-475T>C) c.212-108T>C c.326T>C (p.Ile109Thr) c.626T>C (p.Ile209Thr) c.581T>C (p.Ile194Thr) c.503T>C (p.Ile168Thr) c.424+1025T>C c.359T>C (p.Ile120Thr) c.*436T>C (n.*436T>C) | |
X | g.48905367A>T | CA412895747 | SLC35A2 | c.542T>A (p.Ile181Asn) c.355-475T>A (n.355-475T>A) c.427-475T>A (n.427-475T>A) c.212-108T>A c.326T>A (p.Ile109Asn) c.626T>A (p.Ile209Asn) c.581T>A (p.Ile194Asn) c.503T>A (p.Ile168Asn) c.424+1025T>A c.359T>A (p.Ile120Asn) c.*436T>A (n.*436T>A) | |
X | g.48905368T>A | CA412895748 | SLC35A2 | c.541A>T (p.Ile181Phe) c.355-476A>T (n.355-476A>T) c.427-476A>T (n.427-476A>T) c.212-109A>T c.325A>T (p.Ile109Phe) c.625A>T (p.Ile209Phe) c.580A>T (p.Ile194Phe) c.502A>T (p.Ile168Phe) c.424+1024A>T c.358A>T (p.Ile120Phe) c.*435A>T (n.*435A>T) | |
X | g.48905368T>C | CA412895749 | SLC35A2 | c.541A>G (p.Ile181Val) c.355-476A>G (n.355-476A>G) c.427-476A>G (n.427-476A>G) c.212-109A>G c.325A>G (p.Ile109Val) c.625A>G (p.Ile209Val) c.580A>G (p.Ile194Val) c.502A>G (p.Ile168Val) c.424+1024A>G c.358A>G (p.Ile120Val) c.*435A>G (n.*435A>G) | ClinVar gnomAD v4 |
X | g.48905368T>G | CA412895750 | SLC35A2 | c.541A>C (p.Ile181Leu) c.355-476A>C (n.355-476A>C) c.427-476A>C (n.427-476A>C) c.212-109A>C c.325A>C (p.Ile109Leu) c.625A>C (p.Ile209Leu) c.580A>C (p.Ile194Leu) c.502A>C (p.Ile168Leu) c.424+1024A>C c.358A>C (p.Ile120Leu) c.*435A>C (n.*435A>C) | |
X | g.48905369G>A | CA516360309 | SLC35A2 | c.540C>T (p.Ala180=) c.355-477C>T (n.355-477C>T) c.427-477C>T (n.427-477C>T) c.212-110C>T c.324C>T (p.Ala108=) c.624C>T (p.Ala208=) c.579C>T (p.Ala193=) c.501C>T (p.Ala167=) c.424+1023C>T c.357C>T (p.Ala119=) c.*434C>T (n.*434C>T) | dbSNP gnomAD v2 |
X | g.48905369G>C | CA516360307 | SLC35A2 | c.540C>G (p.Ala180=) c.355-477C>G (n.355-477C>G) c.427-477C>G (n.427-477C>G) c.212-110C>G c.324C>G (p.Ala108=) c.624C>G (p.Ala208=) c.579C>G (p.Ala193=) c.501C>G (p.Ala167=) c.424+1023C>G c.357C>G (p.Ala119=) c.*434C>G (n.*434C>G) | |
X | g.48905369G= | CA2428428953 | SLC35A2 | c.540C= (p.Ala180=) c.355-477C= (n.355-477C=) c.427-477C= (n.427-477C=) c.212-110C= c.324C= (p.Ala108=) c.624C= (p.Ala208=) c.579C= (p.Ala193=) c.501C= (p.Ala167=) c.424+1023C= c.357C= (p.Ala119=) c.*434C= (n.*434C=) | |
X | g.48905369G>T | CA516360308 | SLC35A2 | c.540C>A (p.Ala180=) c.355-477C>A (n.355-477C>A) c.427-477C>A (n.427-477C>A) c.212-110C>A c.324C>A (p.Ala108=) c.624C>A (p.Ala208=) c.579C>A (p.Ala193=) c.501C>A (p.Ala167=) c.424+1023C>A c.357C>A (p.Ala119=) c.*434C>A (n.*434C>A) | |
X | g.48905370G>A | CA412895751 | SLC35A2 | c.539C>T (p.Ala180Val) c.355-478C>T (n.355-478C>T) c.427-478C>T (n.427-478C>T) c.212-111C>T c.323C>T (p.Ala108Val) c.623C>T (p.Ala208Val) c.578C>T (p.Ala193Val) c.500C>T (p.Ala167Val) c.424+1022C>T c.356C>T (p.Ala119Val) c.*433C>T (n.*433C>T) | gnomAD v4 |
X | g.48905370G>C | CA412895752 | SLC35A2 | c.539C>G (p.Ala180Gly) c.355-478C>G (n.355-478C>G) c.427-478C>G (n.427-478C>G) c.212-111C>G c.323C>G (p.Ala108Gly) c.623C>G (p.Ala208Gly) c.578C>G (p.Ala193Gly) c.500C>G (p.Ala167Gly) c.424+1022C>G c.356C>G (p.Ala119Gly) c.*433C>G (n.*433C>G) | |
X | g.48905370G>T | CA412895754 | SLC35A2 | c.539C>A (p.Ala180Asp) c.355-478C>A (n.355-478C>A) c.427-478C>A (n.427-478C>A) c.212-111C>A c.323C>A (p.Ala108Asp) c.623C>A (p.Ala208Asp) c.578C>A (p.Ala193Asp) c.500C>A (p.Ala167Asp) c.424+1022C>A c.356C>A (p.Ala119Asp) c.*433C>A (n.*433C>A) | |
X | g.48905371C>A | CA412895757 | SLC35A2 | c.538G>T (p.Ala180Ser) c.355-479G>T (n.355-479G>T) c.427-479G>T (n.427-479G>T) c.212-112G>T c.322G>T (p.Ala108Ser) c.622G>T (p.Ala208Ser) c.577G>T (p.Ala193Ser) c.499G>T (p.Ala167Ser) c.424+1021G>T c.355G>T (p.Ala119Ser) c.*432G>T (n.*432G>T) | |
X | g.48905371C= | CA2428428954 | SLC35A2 | c.538G= (p.Ala180=) c.355-479G= (n.355-479G=) c.427-479G= (n.427-479G=) c.212-112G= c.322G= (p.Ala108=) c.622G= (p.Ala208=) c.577G= (p.Ala193=) c.499G= (p.Ala167=) c.424+1021G= c.355G= (p.Ala119=) c.*432G= (n.*432G=) | |
X | g.48905371C>G | CA412895756 | SLC35A2 | c.538G>C (p.Ala180Pro) c.355-479G>C (n.355-479G>C) c.427-479G>C (n.427-479G>C) c.212-112G>C c.322G>C (p.Ala108Pro) c.622G>C (p.Ala208Pro) c.577G>C (p.Ala193Pro) c.499G>C (p.Ala167Pro) c.424+1021G>C c.355G>C (p.Ala119Pro) c.*432G>C (n.*432G>C) | |
X | g.48905371C>T | CA10406119 | SLC35A2 | c.538G>A (p.Ala180Thr) c.355-479G>A (n.355-479G>A) c.427-479G>A (n.427-479G>A) c.212-112G>A c.322G>A (p.Ala108Thr) c.622G>A (p.Ala208Thr) c.577G>A (p.Ala193Thr) c.499G>A (p.Ala167Thr) c.424+1021G>A c.355G>A (p.Ala119Thr) c.*432G>A (n.*432G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905372G>A | CA516360311 | SLC35A2 | c.537C>T (p.Val179=) c.355-480C>T (n.355-480C>T) c.427-480C>T (n.427-480C>T) c.212-113C>T c.321C>T (p.Val107=) c.621C>T (p.Val207=) c.576C>T (p.Val192=) c.498C>T (p.Val166=) c.424+1020C>T c.354C>T (p.Val118=) c.*431C>T (n.*431C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905372G>C | CA516360313 | SLC35A2 | c.537C>G (p.Val179=) c.355-480C>G (n.355-480C>G) c.427-480C>G (n.427-480C>G) c.212-113C>G c.321C>G (p.Val107=) c.621C>G (p.Val207=) c.576C>G (p.Val192=) c.498C>G (p.Val166=) c.424+1020C>G c.354C>G (p.Val118=) c.*431C>G (n.*431C>G) | |
X | g.48905372G= | CA2428428955 | SLC35A2 | c.537C= (p.Val179=) c.355-480C= (n.355-480C=) c.427-480C= (n.427-480C=) c.212-113C= c.321C= (p.Val107=) c.621C= (p.Val207=) c.576C= (p.Val192=) c.498C= (p.Val166=) c.424+1020C= c.354C= (p.Val118=) c.*431C= (n.*431C=) | |
X | g.48905372G>T | CA516360314 | SLC35A2 | c.537C>A (p.Val179=) c.355-480C>A (n.355-480C>A) c.427-480C>A (n.427-480C>A) c.212-113C>A c.321C>A (p.Val107=) c.621C>A (p.Val207=) c.576C>A (p.Val192=) c.498C>A (p.Val166=) c.424+1020C>A c.354C>A (p.Val118=) c.*431C>A (n.*431C>A) | |
X | g.48905373A>C | CA412895758 | SLC35A2 | c.536T>G (p.Val179Gly) c.355-481T>G (n.355-481T>G) c.427-481T>G (n.427-481T>G) c.212-114T>G c.320T>G (p.Val107Gly) c.620T>G (p.Val207Gly) c.575T>G (p.Val192Gly) c.497T>G (p.Val166Gly) c.424+1019T>G c.353T>G (p.Val118Gly) c.*430T>G (n.*430T>G) | |
X | g.48905373A>G | CA412895759 | SLC35A2 | c.536T>C (p.Val179Ala) c.355-481T>C (n.355-481T>C) c.427-481T>C (n.427-481T>C) c.212-114T>C c.320T>C (p.Val107Ala) c.620T>C (p.Val207Ala) c.575T>C (p.Val192Ala) c.497T>C (p.Val166Ala) c.424+1019T>C c.353T>C (p.Val118Ala) c.*430T>C (n.*430T>C) | |
X | g.48905373A>T | CA412895760 | SLC35A2 | c.536T>A (p.Val179Asp) c.355-481T>A (n.355-481T>A) c.427-481T>A (n.427-481T>A) c.212-114T>A c.320T>A (p.Val107Asp) c.620T>A (p.Val207Asp) c.575T>A (p.Val192Asp) c.497T>A (p.Val166Asp) c.424+1019T>A c.353T>A (p.Val118Asp) c.*430T>A (n.*430T>A) | |
X | g.48905374C>A | CA412895761 | SLC35A2 | c.535G>T (p.Val179Phe) c.355-482G>T (n.355-482G>T) c.427-482G>T (n.427-482G>T) c.212-115G>T c.319G>T (p.Val107Phe) c.619G>T (p.Val207Phe) c.574G>T (p.Val192Phe) c.496G>T (p.Val166Phe) c.424+1018G>T c.352G>T (p.Val118Phe) c.*429G>T (n.*429G>T) | |
X | g.48905374C= | CA2428428956 | SLC35A2 | c.535G= (p.Val179=) c.355-482G= (n.355-482G=) c.427-482G= (n.427-482G=) c.212-115G= c.319G= (p.Val107=) c.619G= (p.Val207=) c.574G= (p.Val192=) c.496G= (p.Val166=) c.424+1018G= c.352G= (p.Val118=) c.*429G= (n.*429G=) | |
X | g.48905374C>G | CA412895762 | SLC35A2 | c.535G>C (p.Val179Leu) c.355-482G>C (n.355-482G>C) c.427-482G>C (n.427-482G>C) c.212-115G>C c.319G>C (p.Val107Leu) c.619G>C (p.Val207Leu) c.574G>C (p.Val192Leu) c.496G>C (p.Val166Leu) c.424+1018G>C c.352G>C (p.Val118Leu) c.*429G>C (n.*429G>C) | |
X | g.48905374C>T | CA16616694 | SLC35A2 | c.535G>A (p.Val179Ile) c.355-482G>A (n.355-482G>A) c.427-482G>A (n.427-482G>A) c.212-115G>A c.319G>A (p.Val107Ile) c.619G>A (p.Val207Ile) c.574G>A (p.Val192Ile) c.496G>A (p.Val166Ile) c.424+1018G>A c.352G>A (p.Val118Ile) c.*429G>A (n.*429G>A) | ClinVar dbSNP gnomAD v4 |
X | g.48905375G>A | CA10406120 | SLC35A2 | c.534C>T (p.Gly178=) c.355-483C>T (n.355-483C>T) c.427-483C>T (n.427-483C>T) c.212-116C>T c.318C>T (p.Gly106=) c.618C>T (p.Gly206=) c.573C>T (p.Gly191=) c.495C>T (p.Gly165=) c.424+1017C>T c.351C>T (p.Gly117=) c.*428C>T (n.*428C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905375G>C | CA516360315 | SLC35A2 | c.534C>G (p.Gly178=) c.355-483C>G (n.355-483C>G) c.427-483C>G (n.427-483C>G) c.212-116C>G c.318C>G (p.Gly106=) c.618C>G (p.Gly206=) c.573C>G (p.Gly191=) c.495C>G (p.Gly165=) c.424+1017C>G c.351C>G (p.Gly117=) c.*428C>G (n.*428C>G) | |
X | g.48905375G= | CA2428428957 | SLC35A2 | c.534C= (p.Gly178=) c.355-483C= (n.355-483C=) c.427-483C= (n.427-483C=) c.212-116C= c.318C= (p.Gly106=) c.618C= (p.Gly206=) c.573C= (p.Gly191=) c.495C= (p.Gly165=) c.424+1017C= c.351C= (p.Gly117=) c.*428C= (n.*428C=) | |
X | g.48905375G>T | CA516360317 | SLC35A2 | c.534C>A (p.Gly178=) c.355-483C>A (n.355-483C>A) c.427-483C>A (n.427-483C>A) c.212-116C>A c.318C>A (p.Gly106=) c.618C>A (p.Gly206=) c.573C>A (p.Gly191=) c.495C>A (p.Gly165=) c.424+1017C>A c.351C>A (p.Gly117=) c.*428C>A (n.*428C>A) | gnomAD v4 |
X | g.48905376C>A | CA412895763 | SLC35A2 | c.533G>T (p.Gly178Val) c.355-484G>T (n.355-484G>T) c.427-484G>T (n.427-484G>T) c.212-117G>T c.317G>T (p.Gly106Val) c.617G>T (p.Gly206Val) c.572G>T (p.Gly191Val) c.494G>T (p.Gly165Val) c.424+1016G>T c.350G>T (p.Gly117Val) c.*427G>T (n.*427G>T) | |
X | g.48905376C>G | CA412895764 | SLC35A2 | c.533G>C (p.Gly178Ala) c.355-484G>C (n.355-484G>C) c.427-484G>C (n.427-484G>C) c.212-117G>C c.317G>C (p.Gly106Ala) c.617G>C (p.Gly206Ala) c.572G>C (p.Gly191Ala) c.494G>C (p.Gly165Ala) c.424+1016G>C c.350G>C (p.Gly117Ala) c.*427G>C (n.*427G>C) | |
X | g.48905376C>T | CA412895765 | SLC35A2 | c.533G>A (p.Gly178Asp) c.355-484G>A (n.355-484G>A) c.427-484G>A (n.427-484G>A) c.212-117G>A c.317G>A (p.Gly106Asp) c.617G>A (p.Gly206Asp) c.572G>A (p.Gly191Asp) c.494G>A (p.Gly165Asp) c.424+1016G>A c.350G>A (p.Gly117Asp) c.*427G>A (n.*427G>A) | |
X | g.48905377C>A | CA412895767 | SLC35A2 | c.532G>T (p.Gly178Cys) c.355-485G>T (n.355-485G>T) c.427-485G>T (n.427-485G>T) c.212-118G>T c.316G>T (p.Gly106Cys) c.616G>T (p.Gly206Cys) c.571G>T (p.Gly191Cys) c.493G>T (p.Gly165Cys) c.424+1015G>T c.349G>T (p.Gly117Cys) c.*426G>T (n.*426G>T) | |
X | g.48905377C>G | CA412895768 | SLC35A2 | c.532G>C (p.Gly178Arg) c.355-485G>C (n.355-485G>C) c.427-485G>C (n.427-485G>C) c.212-118G>C c.316G>C (p.Gly106Arg) c.616G>C (p.Gly206Arg) c.571G>C (p.Gly191Arg) c.493G>C (p.Gly165Arg) c.424+1015G>C c.349G>C (p.Gly117Arg) c.*426G>C (n.*426G>C) | |
X | g.48905377C>T | CA412895766 | SLC35A2 | c.532G>A (p.Gly178Ser) c.355-485G>A (n.355-485G>A) c.427-485G>A (n.427-485G>A) c.212-118G>A c.316G>A (p.Gly106Ser) c.616G>A (p.Gly206Ser) c.571G>A (p.Gly191Ser) c.493G>A (p.Gly165Ser) c.424+1015G>A c.349G>A (p.Gly117Ser) c.*426G>A (n.*426G>A) | |
X | g.48905378A>C | CA516360321 | SLC35A2 | c.531T>G (p.Thr177=) c.355-486T>G (n.355-486T>G) c.427-486T>G (n.427-486T>G) c.212-119T>G c.315T>G (p.Thr105=) c.615T>G (p.Thr205=) c.570T>G (p.Thr190=) c.492T>G (p.Thr164=) c.424+1014T>G c.348T>G (p.Thr116=) c.*425T>G (n.*425T>G) | |
X | g.48905378A>G | CA516360322 | SLC35A2 | c.531T>C (p.Thr177=) c.355-486T>C (n.355-486T>C) c.427-486T>C (n.427-486T>C) c.212-119T>C c.315T>C (p.Thr105=) c.615T>C (p.Thr205=) c.570T>C (p.Thr190=) c.492T>C (p.Thr164=) c.424+1014T>C c.348T>C (p.Thr116=) c.*425T>C (n.*425T>C) | |
X | g.48905378A>T | CA516360323 | SLC35A2 | c.531T>A (p.Thr177=) c.355-486T>A (n.355-486T>A) c.427-486T>A (n.427-486T>A) c.212-119T>A c.315T>A (p.Thr105=) c.615T>A (p.Thr205=) c.570T>A (p.Thr190=) c.492T>A (p.Thr164=) c.424+1014T>A c.348T>A (p.Thr116=) c.*425T>A (n.*425T>A) | |
X | g.48905379G>A | CA10406121 | SLC35A2 | c.530C>T (p.Thr177Ile) c.355-487C>T (n.355-487C>T) c.427-487C>T (n.427-487C>T) c.212-120C>T c.314C>T (p.Thr105Ile) c.614C>T (p.Thr205Ile) c.569C>T (p.Thr190Ile) c.491C>T (p.Thr164Ile) c.424+1013C>T c.347C>T (p.Thr116Ile) c.*424C>T (n.*424C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905379G>C | CA412895769 | SLC35A2 | c.530C>G (p.Thr177Ser) c.355-487C>G (n.355-487C>G) c.427-487C>G (n.427-487C>G) c.212-120C>G c.314C>G (p.Thr105Ser) c.614C>G (p.Thr205Ser) c.569C>G (p.Thr190Ser) c.491C>G (p.Thr164Ser) c.424+1013C>G c.347C>G (p.Thr116Ser) c.*424C>G (n.*424C>G) | |
X | g.48905379G= | CA2428428958 | SLC35A2 | c.530C= (p.Thr177=) c.355-487C= (n.355-487C=) c.427-487C= (n.427-487C=) c.212-120C= c.314C= (p.Thr105=) c.614C= (p.Thr205=) c.569C= (p.Thr190=) c.491C= (p.Thr164=) c.424+1013C= c.347C= (p.Thr116=) c.*424C= (n.*424C=) | |
X | g.48905379G>T | CA412895770 | SLC35A2 | c.530C>A (p.Thr177Asn) c.355-487C>A (n.355-487C>A) c.427-487C>A (n.427-487C>A) c.212-120C>A c.314C>A (p.Thr105Asn) c.614C>A (p.Thr205Asn) c.569C>A (p.Thr190Asn) c.491C>A (p.Thr164Asn) c.424+1013C>A c.347C>A (p.Thr116Asn) c.*424C>A (n.*424C>A) | |
X | g.48905380T>A | CA412895771 | SLC35A2 | c.529A>T (p.Thr177Ser) c.355-488A>T (n.355-488A>T) c.427-488A>T (n.427-488A>T) c.212-121A>T c.313A>T (p.Thr105Ser) c.613A>T (p.Thr205Ser) c.568A>T (p.Thr190Ser) c.490A>T (p.Thr164Ser) c.424+1012A>T c.346A>T (p.Thr116Ser) c.*423A>T (n.*423A>T) | |
X | g.48905380T>C | CA412895772 | SLC35A2 | c.529A>G (p.Thr177Ala) c.355-488A>G (n.355-488A>G) c.427-488A>G (n.427-488A>G) c.212-121A>G c.313A>G (p.Thr105Ala) c.613A>G (p.Thr205Ala) c.568A>G (p.Thr190Ala) c.490A>G (p.Thr164Ala) c.424+1012A>G c.346A>G (p.Thr116Ala) c.*423A>G (n.*423A>G) | |
X | g.48905380T>G | CA412895773 | SLC35A2 | c.529A>C (p.Thr177Pro) c.355-488A>C (n.355-488A>C) c.427-488A>C (n.427-488A>C) c.212-121A>C c.313A>C (p.Thr105Pro) c.613A>C (p.Thr205Pro) c.568A>C (p.Thr190Pro) c.490A>C (p.Thr164Pro) c.424+1012A>C c.346A>C (p.Thr116Pro) c.*423A>C (n.*423A>C) | |
X | g.48905381G>A | CA516360324 | SLC35A2 | c.528C>T (p.Phe176=) c.355-489C>T (n.355-489C>T) c.427-489C>T (n.427-489C>T) c.212-122C>T c.312C>T (p.Phe104=) c.612C>T (p.Phe204=) c.567C>T (p.Phe189=) c.489C>T (p.Phe163=) c.424+1011C>T c.345C>T (p.Phe115=) c.*422C>T (n.*422C>T) | |
X | g.48905381G>C | CA412895775 | SLC35A2 | c.528C>G (p.Phe176Leu) c.355-489C>G (n.355-489C>G) c.427-489C>G (n.427-489C>G) c.212-122C>G c.312C>G (p.Phe104Leu) c.612C>G (p.Phe204Leu) c.567C>G (p.Phe189Leu) c.489C>G (p.Phe163Leu) c.424+1011C>G c.345C>G (p.Phe115Leu) c.*422C>G (n.*422C>G) | |
X | g.48905381G>T | CA412895774 | SLC35A2 | c.528C>A (p.Phe176Leu) c.355-489C>A (n.355-489C>A) c.427-489C>A (n.427-489C>A) c.212-122C>A c.312C>A (p.Phe104Leu) c.612C>A (p.Phe204Leu) c.567C>A (p.Phe189Leu) c.489C>A (p.Phe163Leu) c.424+1011C>A c.345C>A (p.Phe115Leu) c.*422C>A (n.*422C>A) | gnomAD v4 |
X | g.48905382A>C | CA412895776 | SLC35A2 | c.527T>G (p.Phe176Cys) c.355-490T>G (n.355-490T>G) c.427-490T>G (n.427-490T>G) c.212-123T>G c.311T>G (p.Phe104Cys) c.611T>G (p.Phe204Cys) c.566T>G (p.Phe189Cys) c.488T>G (p.Phe163Cys) c.424+1010T>G c.344T>G (p.Phe115Cys) c.*421T>G (n.*421T>G) | |
X | g.48905382A>G | CA412895777 | SLC35A2 | c.527T>C (p.Phe176Ser) c.355-490T>C (n.355-490T>C) c.427-490T>C (n.427-490T>C) c.212-123T>C c.311T>C (p.Phe104Ser) c.611T>C (p.Phe204Ser) c.566T>C (p.Phe189Ser) c.488T>C (p.Phe163Ser) c.424+1010T>C c.344T>C (p.Phe115Ser) c.*421T>C (n.*421T>C) | |
X | g.48905382A>T | CA412895778 | SLC35A2 | c.527T>A (p.Phe176Tyr) c.355-490T>A (n.355-490T>A) c.427-490T>A (n.427-490T>A) c.212-123T>A c.311T>A (p.Phe104Tyr) c.611T>A (p.Phe204Tyr) c.566T>A (p.Phe189Tyr) c.488T>A (p.Phe163Tyr) c.424+1010T>A c.344T>A (p.Phe115Tyr) c.*421T>A (n.*421T>A) | |
X | g.48905383del | CA2579602652 | SLC35A2 | c.527del (p.Phe176SerfsTer?) c.355-490del (n.355-490del) c.427-490del (n.427-490del) c.212-123del c.311del (p.Phe104SerfsTer?) c.611del (p.Phe204SerfsTer?) c.566del (p.Phe189SerfsTer?) c.488del (p.Phe163SerfsTer?) c.424+1010del c.344del (p.Phe115SerfsTer?) c.*421del (n.*421del) | |
X | g.48905383A>C | CA412895779 | SLC35A2 | c.526T>G (p.Phe176Val) c.355-491T>G (n.355-491T>G) c.427-491T>G (n.427-491T>G) c.212-124T>G c.310T>G (p.Phe104Val) c.610T>G (p.Phe204Val) c.565T>G (p.Phe189Val) c.487T>G (p.Phe163Val) c.424+1009T>G c.343T>G (p.Phe115Val) c.*420T>G (n.*420T>G) | |
X | g.48905383A>G | CA412895780 | SLC35A2 | c.526T>C (p.Phe176Leu) c.355-491T>C (n.355-491T>C) c.427-491T>C (n.427-491T>C) c.212-124T>C c.310T>C (p.Phe104Leu) c.610T>C (p.Phe204Leu) c.565T>C (p.Phe189Leu) c.487T>C (p.Phe163Leu) c.424+1009T>C c.343T>C (p.Phe115Leu) c.*420T>C (n.*420T>C) | |
X | g.48905383A>T | CA412895781 | SLC35A2 | c.526T>A (p.Phe176Ile) c.355-491T>A (n.355-491T>A) c.427-491T>A (n.427-491T>A) c.212-124T>A c.310T>A (p.Phe104Ile) c.610T>A (p.Phe204Ile) c.565T>A (p.Phe189Ile) c.487T>A (p.Phe163Ile) c.424+1009T>A c.343T>A (p.Phe115Ile) c.*420T>A (n.*420T>A) | |
X | g.48905383_48905386delinsAGAG | CA2428428959 | SLC35A2 | c.523_526delinsCTCT (p.Leu175=) c.355-494_355-491delinsCTCT (n.355-494_355-491delinsCTCT) c.427-494_427-491delinsCTCT (n.427-494_427-491delinsCTCT) c.212-127_212-124delinsCTCT c.307_310delinsCTCT (p.Leu103=) c.607_610delinsCTCT (p.Leu203=) c.562_565delinsCTCT (p.Leu188=) c.484_487delinsCTCT (p.Leu162=) c.424+1006_424+1009delinsCTCT c.340_343delinsCTCT (p.Leu114=) c.*417_*420delinsCTCT (n.*417_*420delinsCTCT) | |
X | g.48905384G>A | CA516360327 | SLC35A2 | c.525C>T (p.Leu175=) c.355-492C>T (n.355-492C>T) c.427-492C>T (n.427-492C>T) c.212-125C>T c.309C>T (p.Leu103=) c.609C>T (p.Leu203=) c.564C>T (p.Leu188=) c.486C>T (p.Leu162=) c.424+1008C>T c.342C>T (p.Leu114=) c.*419C>T (n.*419C>T) | |
X | g.48905384G>C | CA516360328 | SLC35A2 | c.525C>G (p.Leu175=) c.355-492C>G (n.355-492C>G) c.427-492C>G (n.427-492C>G) c.212-125C>G c.309C>G (p.Leu103=) c.609C>G (p.Leu203=) c.564C>G (p.Leu188=) c.486C>G (p.Leu162=) c.424+1008C>G c.342C>G (p.Leu114=) c.*419C>G (n.*419C>G) | |
X | g.48905384G>T | CA516360326 | SLC35A2 | c.525C>A (p.Leu175=) c.355-492C>A (n.355-492C>A) c.427-492C>A (n.427-492C>A) c.212-125C>A c.309C>A (p.Leu103=) c.609C>A (p.Leu203=) c.564C>A (p.Leu188=) c.486C>A (p.Leu162=) c.424+1008C>A c.342C>A (p.Leu114=) c.*419C>A (n.*419C>A) | |
X | g.48905387_48905389del | CA915951105 | SLC35A2 | c.523_525del (p.Leu175del) c.355-494_355-492del (n.355-494_355-492del) c.427-494_427-492del (n.427-494_427-492del) c.212-127_212-125del c.307_309del (p.Leu103del) c.607_609del (p.Leu203del) c.562_564del (p.Leu188del) c.484_486del (p.Leu162del) c.424+1006_424+1008del c.340_342del (p.Leu114del) c.*417_*419del (n.*417_*419del) | ClinVar dbSNP |
X | g.48905385A>C | CA412895782 | SLC35A2 | c.524T>G (p.Leu175Arg) c.355-493T>G (n.355-493T>G) c.427-493T>G (n.427-493T>G) c.212-126T>G c.308T>G (p.Leu103Arg) c.608T>G (p.Leu203Arg) c.563T>G (p.Leu188Arg) c.485T>G (p.Leu162Arg) c.424+1007T>G c.341T>G (p.Leu114Arg) c.*418T>G (n.*418T>G) | |
X | g.48905385A>G | CA412895784 | SLC35A2 | c.524T>C (p.Leu175Pro) c.355-493T>C (n.355-493T>C) c.427-493T>C (n.427-493T>C) c.212-126T>C c.308T>C (p.Leu103Pro) c.608T>C (p.Leu203Pro) c.563T>C (p.Leu188Pro) c.485T>C (p.Leu162Pro) c.424+1007T>C c.341T>C (p.Leu114Pro) c.*418T>C (n.*418T>C) | |
X | g.48905385A>T | CA412895783 | SLC35A2 | c.524T>A (p.Leu175His) c.355-493T>A (n.355-493T>A) c.427-493T>A (n.427-493T>A) c.212-126T>A c.308T>A (p.Leu103His) c.608T>A (p.Leu203His) c.563T>A (p.Leu188His) c.485T>A (p.Leu162His) c.424+1007T>A c.341T>A (p.Leu114His) c.*418T>A (n.*418T>A) | |
X | g.48905386G>A | CA412895785 | SLC35A2 | c.523C>T (p.Leu175Phe) c.355-494C>T (n.355-494C>T) c.427-494C>T (n.427-494C>T) c.212-127C>T c.307C>T (p.Leu103Phe) c.607C>T (p.Leu203Phe) c.562C>T (p.Leu188Phe) c.484C>T (p.Leu162Phe) c.424+1006C>T c.340C>T (p.Leu114Phe) c.*417C>T (n.*417C>T) | ClinVar dbSNP |
X | g.48905386G>C | CA412895786 | SLC35A2 | c.523C>G (p.Leu175Val) c.355-494C>G (n.355-494C>G) c.427-494C>G (n.427-494C>G) c.212-127C>G c.307C>G (p.Leu103Val) c.607C>G (p.Leu203Val) c.562C>G (p.Leu188Val) c.484C>G (p.Leu162Val) c.424+1006C>G c.340C>G (p.Leu114Val) c.*417C>G (n.*417C>G) | dbSNP |
X | g.48905386G= | CA2428428960 | SLC35A2 | c.523C= (p.Leu175=) c.355-494C= (n.355-494C=) c.427-494C= (n.427-494C=) c.212-127C= c.307C= (p.Leu103=) c.607C= (p.Leu203=) c.562C= (p.Leu188=) c.484C= (p.Leu162=) c.424+1006C= c.340C= (p.Leu114=) c.*417C= (n.*417C=) | |
X | g.48905386G>T | CA412895787 | SLC35A2 | c.523C>A (p.Leu175Ile) c.355-494C>A (n.355-494C>A) c.427-494C>A (n.427-494C>A) c.212-127C>A c.307C>A (p.Leu103Ile) c.607C>A (p.Leu203Ile) c.562C>A (p.Leu188Ile) c.484C>A (p.Leu162Ile) c.424+1006C>A c.340C>A (p.Leu114Ile) c.*417C>A (n.*417C>A) | |
X | g.48905387G>A | CA516360335 | SLC35A2 | c.522C>T (p.Leu174=) c.355-495C>T (n.355-495C>T) c.427-495C>T (n.427-495C>T) c.212-128C>T c.306C>T (p.Leu102=) c.606C>T (p.Leu202=) c.561C>T (p.Leu187=) c.483C>T (p.Leu161=) c.424+1005C>T c.339C>T (p.Leu113=) c.*416C>T (n.*416C>T) | |
X | g.48905387G>C | CA516360333 | SLC35A2 | c.522C>G (p.Leu174=) c.355-495C>G (n.355-495C>G) c.427-495C>G (n.427-495C>G) c.212-128C>G c.306C>G (p.Leu102=) c.606C>G (p.Leu202=) c.561C>G (p.Leu187=) c.483C>G (p.Leu161=) c.424+1005C>G c.339C>G (p.Leu113=) c.*416C>G (n.*416C>G) | |
X | g.48905387G>T | CA516360334 | SLC35A2 | c.522C>A (p.Leu174=) c.355-495C>A (n.355-495C>A) c.427-495C>A (n.427-495C>A) c.212-128C>A c.306C>A (p.Leu102=) c.606C>A (p.Leu202=) c.561C>A (p.Leu187=) c.483C>A (p.Leu161=) c.424+1005C>A c.339C>A (p.Leu113=) c.*416C>A (n.*416C>A) | |
X | g.48905388A>C | CA412895788 | SLC35A2 | c.521T>G (p.Leu174Arg) c.355-496T>G (n.355-496T>G) c.427-496T>G (n.427-496T>G) c.212-129T>G c.305T>G (p.Leu102Arg) c.605T>G (p.Leu202Arg) c.560T>G (p.Leu187Arg) c.482T>G (p.Leu161Arg) c.424+1004T>G c.338T>G (p.Leu113Arg) c.*415T>G (n.*415T>G) | |
X | g.48905388A>G | CA412895789 | SLC35A2 | c.521T>C (p.Leu174Pro) c.355-496T>C (n.355-496T>C) c.427-496T>C (n.427-496T>C) c.212-129T>C c.305T>C (p.Leu102Pro) c.605T>C (p.Leu202Pro) c.560T>C (p.Leu187Pro) c.482T>C (p.Leu161Pro) c.424+1004T>C c.338T>C (p.Leu113Pro) c.*415T>C (n.*415T>C) | gnomAD v4 |
X | g.48905388A>T | CA412895790 | SLC35A2 | c.521T>A (p.Leu174His) c.355-496T>A (n.355-496T>A) c.427-496T>A (n.427-496T>A) c.212-129T>A c.305T>A (p.Leu102His) c.605T>A (p.Leu202His) c.560T>A (p.Leu187His) c.482T>A (p.Leu161His) c.424+1004T>A c.338T>A (p.Leu113His) c.*415T>A (n.*415T>A) | |
X | g.48905389G>A | CA412895791 | SLC35A2 | c.520C>T (p.Leu174Phe) c.355-497C>T (n.355-497C>T) c.427-497C>T (n.427-497C>T) c.212-130C>T c.304C>T (p.Leu102Phe) c.604C>T (p.Leu202Phe) c.559C>T (p.Leu187Phe) c.481C>T (p.Leu161Phe) c.424+1003C>T c.337C>T (p.Leu113Phe) c.*414C>T (n.*414C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48905389G>C | CA412895792 | SLC35A2 | c.520C>G (p.Leu174Val) c.355-497C>G (n.355-497C>G) c.427-497C>G (n.427-497C>G) c.212-130C>G c.304C>G (p.Leu102Val) c.604C>G (p.Leu202Val) c.559C>G (p.Leu187Val) c.481C>G (p.Leu161Val) c.424+1003C>G c.337C>G (p.Leu113Val) c.*414C>G (n.*414C>G) | |
X | g.48905389G= | CA2428428961 | SLC35A2 | c.520C= (p.Leu174=) c.355-497C= (n.355-497C=) c.427-497C= (n.427-497C=) c.212-130C= c.304C= (p.Leu102=) c.604C= (p.Leu202=) c.559C= (p.Leu187=) c.481C= (p.Leu161=) c.424+1003C= c.337C= (p.Leu113=) c.*414C= (n.*414C=) | |
X | g.48905389G>T | CA412895793 | SLC35A2 | c.520C>A (p.Leu174Ile) c.355-497C>A (n.355-497C>A) c.427-497C>A (n.427-497C>A) c.212-130C>A c.304C>A (p.Leu102Ile) c.604C>A (p.Leu202Ile) c.559C>A (p.Leu187Ile) c.481C>A (p.Leu161Ile) c.424+1003C>A c.337C>A (p.Leu113Ile) c.*414C>A (n.*414C>A) | gnomAD v4 |
X | g.48905390C>A | CA516360336 | SLC35A2 | c.519G>T (p.Leu173=) c.355-498G>T (n.355-498G>T) c.427-498G>T (n.427-498G>T) c.212-131G>T c.303G>T (p.Leu101=) c.603G>T (p.Leu201=) c.558G>T (p.Leu186=) c.480G>T (p.Leu160=) c.424+1002G>T c.336G>T (p.Leu112=) c.*413G>T (n.*413G>T) | gnomAD v4 |
X | g.48905390C>G | CA516360338 | SLC35A2 | c.519G>C (p.Leu173=) c.355-498G>C (n.355-498G>C) c.427-498G>C (n.427-498G>C) c.212-131G>C c.303G>C (p.Leu101=) c.603G>C (p.Leu201=) c.558G>C (p.Leu186=) c.480G>C (p.Leu160=) c.424+1002G>C c.336G>C (p.Leu112=) c.*413G>C (n.*413G>C) | gnomAD v4 |
X | g.48905390C>T | CA516360337 | SLC35A2 | c.519G>A (p.Leu173=) c.355-498G>A (n.355-498G>A) c.427-498G>A (n.427-498G>A) c.212-131G>A c.303G>A (p.Leu101=) c.603G>A (p.Leu201=) c.558G>A (p.Leu186=) c.480G>A (p.Leu160=) c.424+1002G>A c.336G>A (p.Leu112=) c.*413G>A (n.*413G>A) | |
X | g.48905391A>C | CA412895794 | SLC35A2 | c.518T>G (p.Leu173Arg) c.355-499T>G (n.355-499T>G) c.427-499T>G (n.427-499T>G) c.212-132T>G c.302T>G (p.Leu101Arg) c.602T>G (p.Leu201Arg) c.557T>G (p.Leu186Arg) c.479T>G (p.Leu160Arg) c.424+1001T>G c.335T>G (p.Leu112Arg) c.*412T>G (n.*412T>G) | |
X | g.48905391A>G | CA412895795 | SLC35A2 | c.518T>C (p.Leu173Pro) c.355-499T>C (n.355-499T>C) c.427-499T>C (n.427-499T>C) c.212-132T>C c.302T>C (p.Leu101Pro) c.602T>C (p.Leu201Pro) c.557T>C (p.Leu186Pro) c.479T>C (p.Leu160Pro) c.424+1001T>C c.335T>C (p.Leu112Pro) c.*412T>C (n.*412T>C) | |
X | g.48905391A>T | CA412895796 | SLC35A2 | c.518T>A (p.Leu173Gln) c.355-499T>A (n.355-499T>A) c.427-499T>A (n.427-499T>A) c.212-132T>A c.302T>A (p.Leu101Gln) c.602T>A (p.Leu201Gln) c.557T>A (p.Leu186Gln) c.479T>A (p.Leu160Gln) c.424+1001T>A c.335T>A (p.Leu112Gln) c.*412T>A (n.*412T>A) | |
X | g.48905392G>A | CA516360342 | SLC35A2 | c.517C>T (p.Leu173=) c.355-500C>T (n.355-500C>T) c.427-500C>T (n.427-500C>T) c.212-133C>T c.301C>T (p.Leu101=) c.601C>T (p.Leu201=) c.556C>T (p.Leu186=) c.478C>T (p.Leu160=) c.424+1000C>T c.334C>T (p.Leu112=) c.*411C>T (n.*411C>T) | |
X | g.48905392G>C | CA412895797 | SLC35A2 | c.517C>G (p.Leu173Val) c.355-500C>G (n.355-500C>G) c.427-500C>G (n.427-500C>G) c.212-133C>G c.301C>G (p.Leu101Val) c.601C>G (p.Leu201Val) c.556C>G (p.Leu186Val) c.478C>G (p.Leu160Val) c.424+1000C>G c.334C>G (p.Leu112Val) c.*411C>G (n.*411C>G) | |
X | g.48905392G>T | CA412895798 | SLC35A2 | c.517C>A (p.Leu173Met) c.355-500C>A (n.355-500C>A) c.427-500C>A (n.427-500C>A) c.212-133C>A c.301C>A (p.Leu101Met) c.601C>A (p.Leu201Met) c.556C>A (p.Leu186Met) c.478C>A (p.Leu160Met) c.424+1000C>A c.334C>A (p.Leu112Met) c.*411C>A (n.*411C>A) | |
X | g.48905393C>A | CA516360343 | SLC35A2 | c.516G>T (p.Leu172=) c.355-501G>T (n.355-501G>T) c.427-501G>T (n.427-501G>T) c.212-134G>T c.300G>T (p.Leu100=) c.600G>T (p.Leu200=) c.555G>T (p.Leu185=) c.477G>T (p.Leu159=) c.424+999G>T c.333G>T (p.Leu111=) c.*410G>T (n.*410G>T) | gnomAD v4 |
X | g.48905393C= | CA2428428962 | SLC35A2 | c.516G= (p.Leu172=) c.355-501G= (n.355-501G=) c.427-501G= (n.427-501G=) c.212-134G= c.300G= (p.Leu100=) c.600G= (p.Leu200=) c.555G= (p.Leu185=) c.477G= (p.Leu159=) c.424+999G= c.333G= (p.Leu111=) c.*410G= (n.*410G=) | |
X | g.48905393C>G | CA516360344 | SLC35A2 | c.516G>C (p.Leu172=) c.355-501G>C (n.355-501G>C) c.427-501G>C (n.427-501G>C) c.212-134G>C c.300G>C (p.Leu100=) c.600G>C (p.Leu200=) c.555G>C (p.Leu185=) c.477G>C (p.Leu159=) c.424+999G>C c.333G>C (p.Leu111=) c.*410G>C (n.*410G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905393C>T | CA516360346 | SLC35A2 | c.516G>A (p.Leu172=) c.355-501G>A (n.355-501G>A) c.427-501G>A (n.427-501G>A) c.212-134G>A c.300G>A (p.Leu100=) c.600G>A (p.Leu200=) c.555G>A (p.Leu185=) c.477G>A (p.Leu159=) c.424+999G>A c.333G>A (p.Leu111=) c.*410G>A (n.*410G>A) | gnomAD v4 |
X | g.48905394A>C | CA412895799 | SLC35A2 | c.515T>G (p.Leu172Arg) c.355-502T>G (n.355-502T>G) c.427-502T>G (n.427-502T>G) c.212-135T>G c.299T>G (p.Leu100Arg) c.599T>G (p.Leu200Arg) c.554T>G (p.Leu185Arg) c.476T>G (p.Leu159Arg) c.424+998T>G c.332T>G (p.Leu111Arg) c.*409T>G (n.*409T>G) | |
X | g.48905394A>G | CA412895801 | SLC35A2 | c.515T>C (p.Leu172Pro) c.355-502T>C (n.355-502T>C) c.427-502T>C (n.427-502T>C) c.212-135T>C c.299T>C (p.Leu100Pro) c.599T>C (p.Leu200Pro) c.554T>C (p.Leu185Pro) c.476T>C (p.Leu159Pro) c.424+998T>C c.332T>C (p.Leu111Pro) c.*409T>C (n.*409T>C) | ClinVar |
X | g.48905394A>T | CA412895800 | SLC35A2 | c.515T>A (p.Leu172Gln) c.355-502T>A (n.355-502T>A) c.427-502T>A (n.427-502T>A) c.212-135T>A c.299T>A (p.Leu100Gln) c.599T>A (p.Leu200Gln) c.554T>A (p.Leu185Gln) c.476T>A (p.Leu159Gln) c.424+998T>A c.332T>A (p.Leu111Gln) c.*409T>A (n.*409T>A) | |
X | g.48905395G>A | CA516360348 | SLC35A2 | c.514C>T (p.Leu172=) c.355-503C>T (n.355-503C>T) c.427-503C>T (n.427-503C>T) c.212-136C>T c.298C>T (p.Leu100=) c.598C>T (p.Leu200=) c.553C>T (p.Leu185=) c.475C>T (p.Leu159=) c.424+997C>T c.331C>T (p.Leu111=) c.*408C>T (n.*408C>T) | |
X | g.48905395G>C | CA412895802 | SLC35A2 | c.514C>G (p.Leu172Val) c.355-503C>G (n.355-503C>G) c.427-503C>G (n.427-503C>G) c.212-136C>G c.298C>G (p.Leu100Val) c.598C>G (p.Leu200Val) c.553C>G (p.Leu185Val) c.475C>G (p.Leu159Val) c.424+997C>G c.331C>G (p.Leu111Val) c.*408C>G (n.*408C>G) | |
X | g.48905395G>T | CA412895804 | SLC35A2 | c.514C>A (p.Leu172Met) c.355-503C>A (n.355-503C>A) c.427-503C>A (n.427-503C>A) c.212-136C>A c.298C>A (p.Leu100Met) c.598C>A (p.Leu200Met) c.553C>A (p.Leu185Met) c.475C>A (p.Leu159Met) c.424+997C>A c.331C>A (p.Leu111Met) c.*408C>A (n.*408C>A) |