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.48905177T>A | CA516360003 | SLC35A2 | c.732A>T (p.Ala244=) c.355-285A>T (n.355-285A>T) c.427-285A>T (n.427-285A>T) c.294A>T c.516A>T (p.Ala172=) c.816A>T (p.Ala272=) c.771A>T (p.Ala257=) c.424+1215A>T c.549A>T (p.Ala183=) c.*626A>T (n.*626A>T) | |
X | g.48905177T>C | CA516360004 | SLC35A2 | c.732A>G (p.Ala244=) c.355-285A>G (n.355-285A>G) c.427-285A>G (n.427-285A>G) c.294A>G c.516A>G (p.Ala172=) c.816A>G (p.Ala272=) c.771A>G (p.Ala257=) c.424+1215A>G c.549A>G (p.Ala183=) c.*626A>G (n.*626A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48905177T>G | CA516360005 | SLC35A2 | c.732A>C (p.Ala244=) c.355-285A>C (n.355-285A>C) c.427-285A>C (n.427-285A>C) c.294A>C c.516A>C (p.Ala172=) c.816A>C (p.Ala272=) c.771A>C (p.Ala257=) c.424+1215A>C c.549A>C (p.Ala183=) c.*626A>C (n.*626A>C) | |
X | g.48905177T= | CA2428428889 | SLC35A2 | c.732A= (p.Ala244=) c.355-285A= (n.355-285A=) c.427-285A= (n.427-285A=) c.294A= c.516A= (p.Ala172=) c.816A= (p.Ala272=) c.771A= (p.Ala257=) c.424+1215A= c.549A= (p.Ala183=) c.*626A= (n.*626A=) | |
X | g.48905178G>A | CA412895337 | SLC35A2 | c.731C>T (p.Ala244Val) c.355-286C>T (n.355-286C>T) c.427-286C>T (n.427-286C>T) c.293C>T c.515C>T (p.Ala172Val) c.815C>T (p.Ala272Val) c.770C>T (p.Ala257Val) c.424+1214C>T c.548C>T (p.Ala183Val) c.*625C>T (n.*625C>T) | dbSNP |
X | g.48905178G>C | CA412895338 | SLC35A2 | c.731C>G (p.Ala244Gly) c.355-286C>G (n.355-286C>G) c.427-286C>G (n.427-286C>G) c.293C>G c.515C>G (p.Ala172Gly) c.815C>G (p.Ala272Gly) c.770C>G (p.Ala257Gly) c.424+1214C>G c.548C>G (p.Ala183Gly) c.*625C>G (n.*625C>G) | |
X | g.48905178G= | CA2428428890 | SLC35A2 | c.731C= (p.Ala244=) c.355-286C= (n.355-286C=) c.427-286C= (n.427-286C=) c.293C= c.515C= (p.Ala172=) c.815C= (p.Ala272=) c.770C= (p.Ala257=) c.424+1214C= c.548C= (p.Ala183=) c.*625C= (n.*625C=) | |
X | g.48905178G>T | CA412895339 | SLC35A2 | c.731C>A (p.Ala244Glu) c.355-286C>A (n.355-286C>A) c.427-286C>A (n.427-286C>A) c.293C>A c.515C>A (p.Ala172Glu) c.815C>A (p.Ala272Glu) c.770C>A (p.Ala257Glu) c.424+1214C>A c.548C>A (p.Ala183Glu) c.*625C>A (n.*625C>A) | |
X | g.48905179C>A | CA412895340 | SLC35A2 | c.730G>T (p.Ala244Ser) c.355-287G>T (n.355-287G>T) c.427-287G>T (n.427-287G>T) c.292G>T c.514G>T (p.Ala172Ser) c.814G>T (p.Ala272Ser) c.769G>T (p.Ala257Ser) c.424+1213G>T c.547G>T (p.Ala183Ser) c.*624G>T (n.*624G>T) | |
X | g.48905179C>G | CA412895341 | SLC35A2 | c.730G>C (p.Ala244Pro) c.355-287G>C (n.355-287G>C) c.427-287G>C (n.427-287G>C) c.292G>C c.514G>C (p.Ala172Pro) c.814G>C (p.Ala272Pro) c.769G>C (p.Ala257Pro) c.424+1213G>C c.547G>C (p.Ala183Pro) c.*624G>C (n.*624G>C) | |
X | g.48905179C>T | CA412895342 | SLC35A2 | c.730G>A (p.Ala244Thr) c.355-287G>A (n.355-287G>A) c.427-287G>A (n.427-287G>A) c.292G>A c.514G>A (p.Ala172Thr) c.814G>A (p.Ala272Thr) c.769G>A (p.Ala257Thr) c.424+1213G>A c.547G>A (p.Ala183Thr) c.*624G>A (n.*624G>A) | |
X | g.48905180T>A | CA516360009 | SLC35A2 | c.729A>T (p.Thr243=) c.355-288A>T (n.355-288A>T) c.427-288A>T (n.427-288A>T) c.291A>T c.513A>T (p.Thr171=) c.813A>T (p.Thr271=) c.768A>T (p.Thr256=) c.424+1212A>T c.546A>T (p.Thr182=) c.*623A>T (n.*623A>T) | |
X | g.48905180T>C | CA10406103 | SLC35A2 | c.729A>G (p.Thr243=) c.355-288A>G (n.355-288A>G) c.427-288A>G (n.427-288A>G) c.291A>G c.513A>G (p.Thr171=) c.813A>G (p.Thr271=) c.768A>G (p.Thr256=) c.424+1212A>G c.546A>G (p.Thr182=) c.*623A>G (n.*623A>G) | dbSNP ExAC gnomAD v4 |
X | g.48905180T>G | CA516360010 | SLC35A2 | c.729A>C (p.Thr243=) c.355-288A>C (n.355-288A>C) c.427-288A>C (n.427-288A>C) c.291A>C c.513A>C (p.Thr171=) c.813A>C (p.Thr271=) c.768A>C (p.Thr256=) c.424+1212A>C c.546A>C (p.Thr182=) c.*623A>C (n.*623A>C) | |
X | g.48905180T= | CA2428428891 | SLC35A2 | c.729A= (p.Thr243=) c.355-288A= (n.355-288A=) c.427-288A= (n.427-288A=) c.291A= c.513A= (p.Thr171=) c.813A= (p.Thr271=) c.768A= (p.Thr256=) c.424+1212A= c.546A= (p.Thr182=) c.*623A= (n.*623A=) | |
X | g.48905181G>A | CA412895343 | SLC35A2 | c.728C>T (p.Thr243Ile) c.355-289C>T (n.355-289C>T) c.427-289C>T (n.427-289C>T) c.290C>T c.512C>T (p.Thr171Ile) c.812C>T (p.Thr271Ile) c.767C>T (p.Thr256Ile) c.424+1211C>T c.545C>T (p.Thr182Ile) c.*622C>T (n.*622C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905181G>C | CA412895344 | SLC35A2 | c.728C>G (p.Thr243Arg) c.355-289C>G (n.355-289C>G) c.427-289C>G (n.427-289C>G) c.290C>G c.512C>G (p.Thr171Arg) c.812C>G (p.Thr271Arg) c.767C>G (p.Thr256Arg) c.424+1211C>G c.545C>G (p.Thr182Arg) c.*622C>G (n.*622C>G) | |
X | g.48905181G= | CA2428428892 | SLC35A2 | c.728C= (p.Thr243=) c.355-289C= (n.355-289C=) c.427-289C= (n.427-289C=) c.290C= c.512C= (p.Thr171=) c.812C= (p.Thr271=) c.767C= (p.Thr256=) c.424+1211C= c.545C= (p.Thr182=) c.*622C= (n.*622C=) | |
X | g.48905181G>T | CA412895345 | SLC35A2 | c.728C>A (p.Thr243Lys) c.355-289C>A (n.355-289C>A) c.427-289C>A (n.427-289C>A) c.290C>A c.512C>A (p.Thr171Lys) c.812C>A (p.Thr271Lys) c.767C>A (p.Thr256Lys) c.424+1211C>A c.545C>A (p.Thr182Lys) c.*622C>A (n.*622C>A) | |
X | g.48905182T>A | CA412895348 | SLC35A2 | c.727A>T (p.Thr243Ser) c.355-290A>T (n.355-290A>T) c.427-290A>T (n.427-290A>T) c.289A>T c.511A>T (p.Thr171Ser) c.811A>T (p.Thr271Ser) c.766A>T (p.Thr256Ser) c.424+1210A>T c.544A>T (p.Thr182Ser) c.*621A>T (n.*621A>T) | |
X | g.48905182T>C | CA412895346 | SLC35A2 | c.727A>G (p.Thr243Ala) c.355-290A>G (n.355-290A>G) c.427-290A>G (n.427-290A>G) c.289A>G c.511A>G (p.Thr171Ala) c.811A>G (p.Thr271Ala) c.766A>G (p.Thr256Ala) c.424+1210A>G c.544A>G (p.Thr182Ala) c.*621A>G (n.*621A>G) | |
X | g.48905182T>G | CA412895347 | SLC35A2 | c.727A>C (p.Thr243Pro) c.355-290A>C (n.355-290A>C) c.427-290A>C (n.427-290A>C) c.289A>C c.511A>C (p.Thr171Pro) c.811A>C (p.Thr271Pro) c.766A>C (p.Thr256Pro) c.424+1210A>C c.544A>C (p.Thr182Pro) c.*621A>C (n.*621A>C) | |
X | g.48905183G>A | CA516360013 | SLC35A2 | c.726C>T (p.Gly242=) c.355-291C>T (n.355-291C>T) c.427-291C>T (n.427-291C>T) c.288C>T c.510C>T (p.Gly170=) c.810C>T (p.Gly270=) c.765C>T (p.Gly255=) c.424+1209C>T c.543C>T (p.Gly181=) c.*620C>T (n.*620C>T) | |
X | g.48905183G>C | CA516360014 | SLC35A2 | c.726C>G (p.Gly242=) c.355-291C>G (n.355-291C>G) c.427-291C>G (n.427-291C>G) c.288C>G c.510C>G (p.Gly170=) c.810C>G (p.Gly270=) c.765C>G (p.Gly255=) c.424+1209C>G c.543C>G (p.Gly181=) c.*620C>G (n.*620C>G) | |
X | g.48905183G>T | CA516360015 | SLC35A2 | c.726C>A (p.Gly242=) c.355-291C>A (n.355-291C>A) c.427-291C>A (n.427-291C>A) c.288C>A c.510C>A (p.Gly170=) c.810C>A (p.Gly270=) c.765C>A (p.Gly255=) c.424+1209C>A c.543C>A (p.Gly181=) c.*620C>A (n.*620C>A) | |
X | g.48905184C>A | CA412895349 | SLC35A2 | c.725G>T (p.Gly242Val) c.355-292G>T (n.355-292G>T) c.427-292G>T (n.427-292G>T) c.287G>T c.509G>T (p.Gly170Val) c.809G>T (p.Gly270Val) c.764G>T (p.Gly255Val) c.424+1208G>T c.542G>T (p.Gly181Val) c.*619G>T (n.*619G>T) | |
X | g.48905184C>G | CA412895350 | SLC35A2 | c.725G>C (p.Gly242Ala) c.355-292G>C (n.355-292G>C) c.427-292G>C (n.427-292G>C) c.287G>C c.509G>C (p.Gly170Ala) c.809G>C (p.Gly270Ala) c.764G>C (p.Gly255Ala) c.424+1208G>C c.542G>C (p.Gly181Ala) c.*619G>C (n.*619G>C) | |
X | g.48905184C>T | CA412895351 | SLC35A2 | c.725G>A (p.Gly242Asp) c.355-292G>A (n.355-292G>A) c.427-292G>A (n.427-292G>A) c.287G>A c.509G>A (p.Gly170Asp) c.809G>A (p.Gly270Asp) c.764G>A (p.Gly255Asp) c.424+1208G>A c.542G>A (p.Gly181Asp) c.*619G>A (n.*619G>A) | |
X | g.48905185C>A | CA412895352 | SLC35A2 | c.724G>T (p.Gly242Cys) c.355-293G>T (n.355-293G>T) c.427-293G>T (n.427-293G>T) c.286G>T c.508G>T (p.Gly170Cys) c.808G>T (p.Gly270Cys) c.763G>T (p.Gly255Cys) c.424+1207G>T c.541G>T (p.Gly181Cys) c.*618G>T (n.*618G>T) | gnomAD v4 |
X | g.48905185C= | CA2428428893 | SLC35A2 | c.724G= (p.Gly242=) c.355-293G= (n.355-293G=) c.427-293G= (n.427-293G=) c.286G= c.508G= (p.Gly170=) c.808G= (p.Gly270=) c.763G= (p.Gly255=) c.424+1207G= c.541G= (p.Gly181=) c.*618G= (n.*618G=) | |
X | g.48905185C>G | CA412895353 | SLC35A2 | c.724G>C (p.Gly242Arg) c.355-293G>C (n.355-293G>C) c.427-293G>C (n.427-293G>C) c.286G>C c.508G>C (p.Gly170Arg) c.808G>C (p.Gly270Arg) c.763G>C (p.Gly255Arg) c.424+1207G>C c.541G>C (p.Gly181Arg) c.*618G>C (n.*618G>C) | |
X | g.48905185C>T | CA412895354 | SLC35A2 | c.724G>A (p.Gly242Ser) c.355-293G>A (n.355-293G>A) c.427-293G>A (n.427-293G>A) c.286G>A c.508G>A (p.Gly170Ser) c.808G>A (p.Gly270Ser) c.763G>A (p.Gly255Ser) c.424+1207G>A c.541G>A (p.Gly181Ser) c.*618G>A (n.*618G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905186G>A | CA329098890 | SLC35A2 | c.723C>T (p.Phe241=) c.355-294C>T (n.355-294C>T) c.427-294C>T (n.427-294C>T) c.285C>T c.507C>T (p.Phe169=) c.807C>T (p.Phe269=) c.762C>T (p.Phe254=) c.424+1206C>T c.540C>T (p.Phe180=) c.*617C>T (n.*617C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905186G>C | CA412895355 | SLC35A2 | c.723C>G (p.Phe241Leu) c.355-294C>G (n.355-294C>G) c.427-294C>G (n.427-294C>G) c.285C>G c.507C>G (p.Phe169Leu) c.807C>G (p.Phe269Leu) c.762C>G (p.Phe254Leu) c.424+1206C>G c.540C>G (p.Phe180Leu) c.*617C>G (n.*617C>G) | |
X | g.48905186G= | CA2428428894 | SLC35A2 | c.723C= (p.Phe241=) c.355-294C= (n.355-294C=) c.427-294C= (n.427-294C=) c.285C= c.507C= (p.Phe169=) c.807C= (p.Phe269=) c.762C= (p.Phe254=) c.424+1206C= c.540C= (p.Phe180=) c.*617C= (n.*617C=) | |
X | g.48905186G>T | CA412895356 | SLC35A2 | c.723C>A (p.Phe241Leu) c.355-294C>A (n.355-294C>A) c.427-294C>A (n.427-294C>A) c.285C>A c.507C>A (p.Phe169Leu) c.807C>A (p.Phe269Leu) c.762C>A (p.Phe254Leu) c.424+1206C>A c.540C>A (p.Phe180Leu) c.*617C>A (n.*617C>A) | |
X | g.48905187A>C | CA412895357 | SLC35A2 | c.722T>G (p.Phe241Cys) c.355-295T>G (n.355-295T>G) c.427-295T>G (n.427-295T>G) c.284T>G c.506T>G (p.Phe169Cys) c.806T>G (p.Phe269Cys) c.761T>G (p.Phe254Cys) c.424+1205T>G c.539T>G (p.Phe180Cys) c.*616T>G (n.*616T>G) | |
X | g.48905187A>G | CA412895358 | SLC35A2 | c.722T>C (p.Phe241Ser) c.355-295T>C (n.355-295T>C) c.427-295T>C (n.427-295T>C) c.284T>C c.506T>C (p.Phe169Ser) c.806T>C (p.Phe269Ser) c.761T>C (p.Phe254Ser) c.424+1205T>C c.539T>C (p.Phe180Ser) c.*616T>C (n.*616T>C) | |
X | g.48905187A>T | CA412895359 | SLC35A2 | c.722T>A (p.Phe241Tyr) c.355-295T>A (n.355-295T>A) c.427-295T>A (n.427-295T>A) c.284T>A c.506T>A (p.Phe169Tyr) c.806T>A (p.Phe269Tyr) c.761T>A (p.Phe254Tyr) c.424+1205T>A c.539T>A (p.Phe180Tyr) c.*616T>A (n.*616T>A) | |
X | g.48905188A>C | CA412895361 | SLC35A2 | c.721T>G (p.Phe241Val) c.355-296T>G (n.355-296T>G) c.427-296T>G (n.427-296T>G) c.283T>G c.505T>G (p.Phe169Val) c.805T>G (p.Phe269Val) c.760T>G (p.Phe254Val) c.424+1204T>G c.538T>G (p.Phe180Val) c.*615T>G (n.*615T>G) | |
X | g.48905188A>G | CA412895362 | SLC35A2 | c.721T>C (p.Phe241Leu) c.355-296T>C (n.355-296T>C) c.427-296T>C (n.427-296T>C) c.283T>C c.505T>C (p.Phe169Leu) c.805T>C (p.Phe269Leu) c.760T>C (p.Phe254Leu) c.424+1204T>C c.538T>C (p.Phe180Leu) c.*615T>C (n.*615T>C) | |
X | g.48905188A>T | CA412895360 | SLC35A2 | c.721T>A (p.Phe241Ile) c.355-296T>A (n.355-296T>A) c.427-296T>A (n.427-296T>A) c.283T>A c.505T>A (p.Phe169Ile) c.805T>A (p.Phe269Ile) c.760T>A (p.Phe254Ile) c.424+1204T>A c.538T>A (p.Phe180Ile) c.*615T>A (n.*615T>A) | |
X | g.48905189G>A | CA516360027 | SLC35A2 | c.720C>T (p.Leu240=) c.355-297C>T (n.355-297C>T) c.427-297C>T (n.427-297C>T) c.282C>T c.504C>T (p.Leu168=) c.804C>T (p.Leu268=) c.759C>T (p.Leu253=) c.424+1203C>T c.537C>T (p.Leu179=) c.*614C>T (n.*614C>T) | |
X | g.48905189G>C | CA516360024 | SLC35A2 | c.720C>G (p.Leu240=) c.355-297C>G (n.355-297C>G) c.427-297C>G (n.427-297C>G) c.282C>G c.504C>G (p.Leu168=) c.804C>G (p.Leu268=) c.759C>G (p.Leu253=) c.424+1203C>G c.537C>G (p.Leu179=) c.*614C>G (n.*614C>G) | |
X | g.48905189G>T | CA516360026 | SLC35A2 | c.720C>A (p.Leu240=) c.355-297C>A (n.355-297C>A) c.427-297C>A (n.427-297C>A) c.282C>A c.504C>A (p.Leu168=) c.804C>A (p.Leu268=) c.759C>A (p.Leu253=) c.424+1203C>A c.537C>A (p.Leu179=) c.*614C>A (n.*614C>A) | |
X | g.48905190A>C | CA412895364 | SLC35A2 | c.719T>G (p.Leu240Arg) c.355-298T>G (n.355-298T>G) c.427-298T>G (n.427-298T>G) c.281T>G c.503T>G (p.Leu168Arg) c.803T>G (p.Leu268Arg) c.758T>G (p.Leu253Arg) c.424+1202T>G c.536T>G (p.Leu179Arg) c.*613T>G (n.*613T>G) | |
X | g.48905190A>G | CA412895363 | SLC35A2 | c.719T>C (p.Leu240Pro) c.355-298T>C (n.355-298T>C) c.427-298T>C (n.427-298T>C) c.281T>C c.503T>C (p.Leu168Pro) c.803T>C (p.Leu268Pro) c.758T>C (p.Leu253Pro) c.424+1202T>C c.536T>C (p.Leu179Pro) c.*613T>C (n.*613T>C) | |
X | g.48905190A>T | CA412895365 | SLC35A2 | c.719T>A (p.Leu240His) c.355-298T>A (n.355-298T>A) c.427-298T>A (n.427-298T>A) c.281T>A c.503T>A (p.Leu168His) c.803T>A (p.Leu268His) c.758T>A (p.Leu253His) c.424+1202T>A c.536T>A (p.Leu179His) c.*613T>A (n.*613T>A) | |
X | g.48905191G>A | CA412895366 | SLC35A2 | c.718C>T (p.Leu240Phe) c.355-299C>T (n.355-299C>T) c.427-299C>T (n.427-299C>T) c.280C>T c.502C>T (p.Leu168Phe) c.802C>T (p.Leu268Phe) c.757C>T (p.Leu253Phe) c.424+1201C>T c.535C>T (p.Leu179Phe) c.*612C>T (n.*612C>T) | ClinVar |
X | g.48905191G>C | CA412895368 | SLC35A2 | c.718C>G (p.Leu240Val) c.355-299C>G (n.355-299C>G) c.427-299C>G (n.427-299C>G) c.280C>G c.502C>G (p.Leu168Val) c.802C>G (p.Leu268Val) c.757C>G (p.Leu253Val) c.424+1201C>G c.535C>G (p.Leu179Val) c.*612C>G (n.*612C>G) | dbSNP |
X | g.48905191G= | CA2428428895 | SLC35A2 | c.718C= (p.Leu240=) c.355-299C= (n.355-299C=) c.427-299C= (n.427-299C=) c.280C= c.502C= (p.Leu168=) c.802C= (p.Leu268=) c.757C= (p.Leu253=) c.424+1201C= c.535C= (p.Leu179=) c.*612C= (n.*612C=) | |
X | g.48905191G>T | CA412895367 | SLC35A2 | c.718C>A (p.Leu240Ile) c.355-299C>A (n.355-299C>A) c.427-299C>A (n.427-299C>A) c.280C>A c.502C>A (p.Leu168Ile) c.802C>A (p.Leu268Ile) c.757C>A (p.Leu253Ile) c.424+1201C>A c.535C>A (p.Leu179Ile) c.*612C>A (n.*612C>A) | |
X | g.48905192G>A | CA516360028 | SLC35A2 | c.717C>T (p.Gly239=) c.355-300C>T (n.355-300C>T) c.427-300C>T (n.427-300C>T) c.279C>T c.501C>T (p.Gly167=) c.801C>T (p.Gly267=) c.756C>T (p.Gly252=) c.424+1200C>T c.534C>T (p.Gly178=) c.*611C>T (n.*611C>T) | |
X | g.48905192G>C | CA516360030 | SLC35A2 | c.717C>G (p.Gly239=) c.355-300C>G (n.355-300C>G) c.427-300C>G (n.427-300C>G) c.279C>G c.501C>G (p.Gly167=) c.801C>G (p.Gly267=) c.756C>G (p.Gly252=) c.424+1200C>G c.534C>G (p.Gly178=) c.*611C>G (n.*611C>G) | |
X | g.48905192G>T | CA516360031 | SLC35A2 | c.717C>A (p.Gly239=) c.355-300C>A (n.355-300C>A) c.427-300C>A (n.427-300C>A) c.279C>A c.501C>A (p.Gly167=) c.801C>A (p.Gly267=) c.756C>A (p.Gly252=) c.424+1200C>A c.534C>A (p.Gly178=) c.*611C>A (n.*611C>A) | |
X | g.48905193C>A | CA412895369 | SLC35A2 | c.716G>T (p.Gly239Val) c.355-301G>T (n.355-301G>T) c.427-301G>T (n.427-301G>T) c.278G>T c.500G>T (p.Gly167Val) c.800G>T (p.Gly267Val) c.755G>T (p.Gly252Val) c.424+1199G>T c.533G>T (p.Gly178Val) c.*610G>T (n.*610G>T) | |
X | g.48905193C>G | CA412895370 | SLC35A2 | c.716G>C (p.Gly239Ala) c.355-301G>C (n.355-301G>C) c.427-301G>C (n.427-301G>C) c.278G>C c.500G>C (p.Gly167Ala) c.800G>C (p.Gly267Ala) c.755G>C (p.Gly252Ala) c.424+1199G>C c.533G>C (p.Gly178Ala) c.*610G>C (n.*610G>C) | |
X | g.48905193C>T | CA412895371 | SLC35A2 | c.716G>A (p.Gly239Asp) c.355-301G>A (n.355-301G>A) c.427-301G>A (n.427-301G>A) c.278G>A c.500G>A (p.Gly167Asp) c.800G>A (p.Gly267Asp) c.755G>A (p.Gly252Asp) c.424+1199G>A c.533G>A (p.Gly178Asp) c.*610G>A (n.*610G>A) | |
X | g.48905194C>A | CA412895372 | SLC35A2 | c.715G>T (p.Gly239Cys) c.355-302G>T (n.355-302G>T) c.427-302G>T (n.427-302G>T) c.277G>T c.499G>T (p.Gly167Cys) c.799G>T (p.Gly267Cys) c.754G>T (p.Gly252Cys) c.424+1198G>T c.532G>T (p.Gly178Cys) c.*609G>T (n.*609G>T) | |
X | g.48905194C>G | CA412895373 | SLC35A2 | c.715G>C (p.Gly239Arg) c.355-302G>C (n.355-302G>C) c.427-302G>C (n.427-302G>C) c.277G>C c.499G>C (p.Gly167Arg) c.799G>C (p.Gly267Arg) c.754G>C (p.Gly252Arg) c.424+1198G>C c.532G>C (p.Gly178Arg) c.*609G>C (n.*609G>C) | |
X | g.48905194C>T | CA412895374 | SLC35A2 | c.715G>A (p.Gly239Ser) c.355-302G>A (n.355-302G>A) c.427-302G>A (n.427-302G>A) c.277G>A c.499G>A (p.Gly167Ser) c.799G>A (p.Gly267Ser) c.754G>A (p.Gly252Ser) c.424+1198G>A c.532G>A (p.Gly178Ser) c.*609G>A (n.*609G>A) | |
X | g.48905195C>A | CA516360035 | SLC35A2 | c.714G>T (p.Leu238=) c.355-303G>T (n.355-303G>T) c.427-303G>T (n.427-303G>T) c.276G>T c.498G>T (p.Leu166=) c.798G>T (p.Leu266=) c.753G>T (p.Leu251=) c.424+1197G>T c.531G>T (p.Leu177=) c.*608G>T (n.*608G>T) | gnomAD v4 |
X | g.48905195C>G | CA516360033 | SLC35A2 | c.714G>C (p.Leu238=) c.355-303G>C (n.355-303G>C) c.427-303G>C (n.427-303G>C) c.276G>C c.498G>C (p.Leu166=) c.798G>C (p.Leu266=) c.753G>C (p.Leu251=) c.424+1197G>C c.531G>C (p.Leu177=) c.*608G>C (n.*608G>C) | |
X | g.48905195C>T | CA516360037 | SLC35A2 | c.714G>A (p.Leu238=) c.355-303G>A (n.355-303G>A) c.427-303G>A (n.427-303G>A) c.276G>A c.498G>A (p.Leu166=) c.798G>A (p.Leu266=) c.753G>A (p.Leu251=) c.424+1197G>A c.531G>A (p.Leu177=) c.*608G>A (n.*608G>A) | |
X | g.48905196A>C | CA412895375 | SLC35A2 | c.713T>G (p.Leu238Arg) c.355-304T>G (n.355-304T>G) c.427-304T>G (n.427-304T>G) c.275T>G c.497T>G (p.Leu166Arg) c.797T>G (p.Leu266Arg) c.752T>G (p.Leu251Arg) c.424+1196T>G c.530T>G (p.Leu177Arg) c.*607T>G (n.*607T>G) | |
X | g.48905196A>G | CA412895376 | SLC35A2 | c.713T>C (p.Leu238Pro) c.355-304T>C (n.355-304T>C) c.427-304T>C (n.427-304T>C) c.275T>C c.497T>C (p.Leu166Pro) c.797T>C (p.Leu266Pro) c.752T>C (p.Leu251Pro) c.424+1196T>C c.530T>C (p.Leu177Pro) c.*607T>C (n.*607T>C) | |
X | g.48905196A>T | CA412895377 | SLC35A2 | c.713T>A (p.Leu238Gln) c.355-304T>A (n.355-304T>A) c.427-304T>A (n.427-304T>A) c.275T>A c.497T>A (p.Leu166Gln) c.797T>A (p.Leu266Gln) c.752T>A (p.Leu251Gln) c.424+1196T>A c.530T>A (p.Leu177Gln) c.*607T>A (n.*607T>A) | |
X | g.48905197G>A | CA516360041 | SLC35A2 | c.712C>T (p.Leu238=) c.355-305C>T (n.355-305C>T) c.427-305C>T (n.427-305C>T) c.274C>T c.496C>T (p.Leu166=) c.796C>T (p.Leu266=) c.751C>T (p.Leu251=) c.424+1195C>T c.529C>T (p.Leu177=) c.*606C>T (n.*606C>T) | |
X | g.48905197G>C | CA412895378 | SLC35A2 | c.712C>G (p.Leu238Val) c.355-305C>G (n.355-305C>G) c.427-305C>G (n.427-305C>G) c.274C>G c.496C>G (p.Leu166Val) c.796C>G (p.Leu266Val) c.751C>G (p.Leu251Val) c.424+1195C>G c.529C>G (p.Leu177Val) c.*606C>G (n.*606C>G) | |
X | g.48905197G>T | CA412895379 | SLC35A2 | c.712C>A (p.Leu238Met) c.355-305C>A (n.355-305C>A) c.427-305C>A (n.427-305C>A) c.274C>A c.496C>A (p.Leu166Met) c.796C>A (p.Leu266Met) c.751C>A (p.Leu251Met) c.424+1195C>A c.529C>A (p.Leu177Met) c.*606C>A (n.*606C>A) | |
X | g.48905198T>A | CA412895380 | SLC35A2 | c.711A>T (p.Gln237His) c.355-306A>T (n.355-306A>T) c.427-306A>T (n.427-306A>T) c.273A>T c.495A>T (p.Gln165His) c.795A>T (p.Gln265His) c.750A>T (p.Gln250His) c.424+1194A>T c.528A>T (p.Gln176His) c.*605A>T (n.*605A>T) | |
X | g.48905198T>C | CA516360043 | SLC35A2 | c.711A>G (p.Gln237=) c.355-306A>G (n.355-306A>G) c.427-306A>G (n.427-306A>G) c.273A>G c.495A>G (p.Gln165=) c.795A>G (p.Gln265=) c.750A>G (p.Gln250=) c.424+1194A>G c.528A>G (p.Gln176=) c.*605A>G (n.*605A>G) | |
X | g.48905198T>G | CA412895381 | SLC35A2 | c.711A>C (p.Gln237His) c.355-306A>C (n.355-306A>C) c.427-306A>C (n.427-306A>C) c.273A>C c.495A>C (p.Gln165His) c.795A>C (p.Gln265His) c.750A>C (p.Gln250His) c.424+1194A>C c.528A>C (p.Gln176His) c.*605A>C (n.*605A>C) | |
X | g.48905199T>A | CA412895382 | SLC35A2 | c.710A>T (p.Gln237Leu) c.355-307A>T (n.355-307A>T) c.427-307A>T (n.427-307A>T) c.272A>T c.494A>T (p.Gln165Leu) c.794A>T (p.Gln265Leu) c.749A>T (p.Gln250Leu) c.424+1193A>T c.527A>T (p.Gln176Leu) c.*604A>T (n.*604A>T) | |
X | g.48905199T>C | CA412895384 | SLC35A2 | c.710A>G (p.Gln237Arg) c.355-307A>G (n.355-307A>G) c.427-307A>G (n.427-307A>G) c.272A>G c.494A>G (p.Gln165Arg) c.794A>G (p.Gln265Arg) c.749A>G (p.Gln250Arg) c.424+1193A>G c.527A>G (p.Gln176Arg) c.*604A>G (n.*604A>G) | |
X | g.48905199T>G | CA412895383 | SLC35A2 | c.710A>C (p.Gln237Pro) c.355-307A>C (n.355-307A>C) c.427-307A>C (n.427-307A>C) c.272A>C c.494A>C (p.Gln165Pro) c.794A>C (p.Gln265Pro) c.749A>C (p.Gln250Pro) c.424+1193A>C c.527A>C (p.Gln176Pro) c.*604A>C (n.*604A>C) | |
X | g.48905200G>A | CA412895385 | SLC35A2 | c.709C>T (p.Gln237Ter) c.355-308C>T (n.355-308C>T) c.427-308C>T (n.427-308C>T) c.271C>T c.493C>T (p.Gln165Ter) c.793C>T (p.Gln265Ter) c.748C>T (p.Gln250Ter) c.424+1192C>T c.526C>T (p.Gln176Ter) c.*603C>T (n.*603C>T) | |
X | g.48905200G>C | CA412895386 | SLC35A2 | c.709C>G (p.Gln237Glu) c.355-308C>G (n.355-308C>G) c.427-308C>G (n.427-308C>G) c.271C>G c.493C>G (p.Gln165Glu) c.793C>G (p.Gln265Glu) c.748C>G (p.Gln250Glu) c.424+1192C>G c.526C>G (p.Gln176Glu) c.*603C>G (n.*603C>G) | |
X | g.48905200G>T | CA412895387 | SLC35A2 | c.709C>A (p.Gln237Lys) c.355-308C>A (n.355-308C>A) c.427-308C>A (n.427-308C>A) c.271C>A c.493C>A (p.Gln165Lys) c.793C>A (p.Gln265Lys) c.748C>A (p.Gln250Lys) c.424+1192C>A c.526C>A (p.Gln176Lys) c.*603C>A (n.*603C>A) | |
X | g.48905201C>A | CA516360045 | SLC35A2 | c.708G>T (p.Leu236=) c.355-309G>T (n.355-309G>T) c.427-309G>T (n.427-309G>T) c.270G>T c.492G>T (p.Leu164=) c.792G>T (p.Leu264=) c.747G>T (p.Leu249=) c.424+1191G>T c.525G>T (p.Leu175=) c.*602G>T (n.*602G>T) | |
X | g.48905201C= | CA2428428896 | SLC35A2 | c.708G= (p.Leu236=) c.355-309G= (n.355-309G=) c.427-309G= (n.427-309G=) c.270G= c.492G= (p.Leu164=) c.792G= (p.Leu264=) c.747G= (p.Leu249=) c.424+1191G= c.525G= (p.Leu175=) c.*602G= (n.*602G=) | |
X | g.48905201C>G | CA516360046 | SLC35A2 | c.708G>C (p.Leu236=) c.355-309G>C (n.355-309G>C) c.427-309G>C (n.427-309G>C) c.270G>C c.492G>C (p.Leu164=) c.792G>C (p.Leu264=) c.747G>C (p.Leu249=) c.424+1191G>C c.525G>C (p.Leu175=) c.*602G>C (n.*602G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905201C>T | CA516360048 | SLC35A2 | c.708G>A (p.Leu236=) c.355-309G>A (n.355-309G>A) c.427-309G>A (n.427-309G>A) c.270G>A c.492G>A (p.Leu164=) c.792G>A (p.Leu264=) c.747G>A (p.Leu249=) c.424+1191G>A c.525G>A (p.Leu175=) c.*602G>A (n.*602G>A) | gnomAD v4 |
X | g.48905202A>C | CA412895388 | SLC35A2 | c.707T>G (p.Leu236Arg) c.355-310T>G (n.355-310T>G) c.427-310T>G (n.427-310T>G) c.269T>G c.491T>G (p.Leu164Arg) c.791T>G (p.Leu264Arg) c.746T>G (p.Leu249Arg) c.424+1190T>G c.524T>G (p.Leu175Arg) c.*601T>G (n.*601T>G) | |
X | g.48905202A>G | CA412895389 | SLC35A2 | c.707T>C (p.Leu236Pro) c.355-310T>C (n.355-310T>C) c.427-310T>C (n.427-310T>C) c.269T>C c.491T>C (p.Leu164Pro) c.791T>C (p.Leu264Pro) c.746T>C (p.Leu249Pro) c.424+1190T>C c.524T>C (p.Leu175Pro) c.*601T>C (n.*601T>C) | |
X | g.48905202A>T | CA412895390 | SLC35A2 | c.707T>A (p.Leu236Gln) c.355-310T>A (n.355-310T>A) c.427-310T>A (n.427-310T>A) c.269T>A c.491T>A (p.Leu164Gln) c.791T>A (p.Leu264Gln) c.746T>A (p.Leu249Gln) c.424+1190T>A c.524T>A (p.Leu175Gln) c.*601T>A (n.*601T>A) | |
X | g.48905203G>A | CA516360051 | SLC35A2 | c.706C>T (p.Leu236=) c.355-311C>T (n.355-311C>T) c.427-311C>T (n.427-311C>T) c.268C>T c.490C>T (p.Leu164=) c.790C>T (p.Leu264=) c.745C>T (p.Leu249=) c.424+1189C>T c.523C>T (p.Leu175=) c.*600C>T (n.*600C>T) | |
X | g.48905203G>C | CA412895391 | SLC35A2 | c.706C>G (p.Leu236Val) c.355-311C>G (n.355-311C>G) c.427-311C>G (n.427-311C>G) c.268C>G c.490C>G (p.Leu164Val) c.790C>G (p.Leu264Val) c.745C>G (p.Leu249Val) c.424+1189C>G c.523C>G (p.Leu175Val) c.*600C>G (n.*600C>G) | |
X | g.48905203G>T | CA412895392 | SLC35A2 | c.706C>A (p.Leu236Met) c.355-311C>A (n.355-311C>A) c.427-311C>A (n.427-311C>A) c.268C>A c.490C>A (p.Leu164Met) c.790C>A (p.Leu264Met) c.745C>A (p.Leu249Met) c.424+1189C>A c.523C>A (p.Leu175Met) c.*600C>A (n.*600C>A) | |
X | g.48905204G>A | CA516360054 | SLC35A2 | c.705C>T (p.Asn235=) c.355-312C>T (n.355-312C>T) c.427-312C>T (n.427-312C>T) c.267C>T c.489C>T (p.Asn163=) c.789C>T (p.Asn263=) c.744C>T (p.Asn248=) c.424+1188C>T c.522C>T (p.Asn174=) c.*599C>T (n.*599C>T) | |
X | g.48905204G>C | CA412895393 | SLC35A2 | c.705C>G (p.Asn235Lys) c.355-312C>G (n.355-312C>G) c.427-312C>G (n.427-312C>G) c.267C>G c.489C>G (p.Asn163Lys) c.789C>G (p.Asn263Lys) c.744C>G (p.Asn248Lys) c.424+1188C>G c.522C>G (p.Asn174Lys) c.*599C>G (n.*599C>G) | |
X | g.48905204G>T | CA412895394 | SLC35A2 | c.705C>A (p.Asn235Lys) c.355-312C>A (n.355-312C>A) c.427-312C>A (n.427-312C>A) c.267C>A c.489C>A (p.Asn163Lys) c.789C>A (p.Asn263Lys) c.744C>A (p.Asn248Lys) c.424+1188C>A c.522C>A (p.Asn174Lys) c.*599C>A (n.*599C>A) | |
X | g.48905205T>A | CA412895397 | SLC35A2 | c.704A>T (p.Asn235Ile) c.355-313A>T (n.355-313A>T) c.427-313A>T (n.427-313A>T) c.266A>T c.488A>T (p.Asn163Ile) c.788A>T (p.Asn263Ile) c.743A>T (p.Asn248Ile) c.424+1187A>T c.521A>T (p.Asn174Ile) c.*598A>T (n.*598A>T) | |
X | g.48905205T>C | CA412895396 | SLC35A2 | c.704A>G (p.Asn235Ser) c.355-313A>G (n.355-313A>G) c.427-313A>G (n.427-313A>G) c.266A>G c.488A>G (p.Asn163Ser) c.788A>G (p.Asn263Ser) c.743A>G (p.Asn248Ser) c.424+1187A>G c.521A>G (p.Asn174Ser) c.*598A>G (n.*598A>G) | |
X | g.48905205T>G | CA412895395 | SLC35A2 | c.704A>C (p.Asn235Thr) c.355-313A>C (n.355-313A>C) c.427-313A>C (n.427-313A>C) c.266A>C c.488A>C (p.Asn163Thr) c.788A>C (p.Asn263Thr) c.743A>C (p.Asn248Thr) c.424+1187A>C c.521A>C (p.Asn174Thr) c.*598A>C (n.*598A>C) | |
X | g.48905206T>A | CA412895398 | SLC35A2 | c.703A>T (p.Asn235Tyr) c.355-314A>T (n.355-314A>T) c.427-314A>T (n.427-314A>T) c.265A>T c.487A>T (p.Asn163Tyr) c.787A>T (p.Asn263Tyr) c.742A>T (p.Asn248Tyr) c.424+1186A>T c.520A>T (p.Asn174Tyr) c.*597A>T (n.*597A>T) | |
X | g.48905206T>C | CA412895399 | SLC35A2 | c.703A>G (p.Asn235Asp) c.355-314A>G (n.355-314A>G) c.427-314A>G (n.427-314A>G) c.265A>G c.487A>G (p.Asn163Asp) c.787A>G (p.Asn263Asp) c.742A>G (p.Asn248Asp) c.424+1186A>G c.520A>G (p.Asn174Asp) c.*597A>G (n.*597A>G) | |
X | g.48905206T>G | CA412895400 | SLC35A2 | c.703A>C (p.Asn235His) c.355-314A>C (n.355-314A>C) c.427-314A>C (n.427-314A>C) c.265A>C c.487A>C (p.Asn163His) c.787A>C (p.Asn263His) c.742A>C (p.Asn248His) c.424+1186A>C c.520A>C (p.Asn174His) c.*597A>C (n.*597A>C) | |
X | g.48905207G>A | CA10406104 | SLC35A2 | c.702C>T (p.Arg234=) c.355-315C>T (n.355-315C>T) c.427-315C>T (n.427-315C>T) c.264C>T c.486C>T (p.Arg162=) c.786C>T (p.Arg262=) c.741C>T (p.Arg247=) c.424+1185C>T c.519C>T (p.Arg173=) c.*596C>T (n.*596C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905207G>C | CA516360058 | SLC35A2 | c.702C>G (p.Arg234=) c.355-315C>G (n.355-315C>G) c.427-315C>G (n.427-315C>G) c.264C>G c.486C>G (p.Arg162=) c.786C>G (p.Arg262=) c.741C>G (p.Arg247=) c.424+1185C>G c.519C>G (p.Arg173=) c.*596C>G (n.*596C>G) | |
X | g.48905207G= | CA2428428897 | SLC35A2 | c.702C= (p.Arg234=) c.355-315C= (n.355-315C=) c.427-315C= (n.427-315C=) c.264C= c.486C= (p.Arg162=) c.786C= (p.Arg262=) c.741C= (p.Arg247=) c.424+1185C= c.519C= (p.Arg173=) c.*596C= (n.*596C=) | |
X | g.48905207G>T | CA516360061 | SLC35A2 | c.702C>A (p.Arg234=) c.355-315C>A (n.355-315C>A) c.427-315C>A (n.427-315C>A) c.264C>A c.486C>A (p.Arg162=) c.786C>A (p.Arg262=) c.741C>A (p.Arg247=) c.424+1185C>A c.519C>A (p.Arg173=) c.*596C>A (n.*596C>A) | |
X | g.48905208C>A | CA412895401 | SLC35A2 | c.701G>T (p.Arg234Leu) c.355-316G>T (n.355-316G>T) c.427-316G>T (n.427-316G>T) c.263G>T c.485G>T (p.Arg162Leu) c.785G>T (p.Arg262Leu) c.740G>T (p.Arg247Leu) c.424+1184G>T c.518G>T (p.Arg173Leu) c.*595G>T (n.*595G>T) | |
X | g.48905208C= | CA2428428898 | SLC35A2 | c.701G= (p.Arg234=) c.355-316G= (n.355-316G=) c.427-316G= (n.427-316G=) c.263G= c.485G= (p.Arg162=) c.785G= (p.Arg262=) c.740G= (p.Arg247=) c.424+1184G= c.518G= (p.Arg173=) c.*595G= (n.*595G=) | |
X | g.48905208C>G | CA412895402 | SLC35A2 | c.701G>C (p.Arg234Pro) c.355-316G>C (n.355-316G>C) c.427-316G>C (n.427-316G>C) c.263G>C c.485G>C (p.Arg162Pro) c.785G>C (p.Arg262Pro) c.740G>C (p.Arg247Pro) c.424+1184G>C c.518G>C (p.Arg173Pro) c.*595G>C (n.*595G>C) | |
X | g.48905208C>T | CA412895403 | SLC35A2 | c.701G>A (p.Arg234His) c.355-316G>A (n.355-316G>A) c.427-316G>A (n.427-316G>A) c.263G>A c.485G>A (p.Arg162His) c.785G>A (p.Arg262His) c.740G>A (p.Arg247His) c.424+1184G>A c.518G>A (p.Arg173His) c.*595G>A (n.*595G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905209G>A | CA412895404 | SLC35A2 | c.700C>T (p.Arg234Cys) c.355-317C>T (n.355-317C>T) c.427-317C>T (n.427-317C>T) c.262C>T c.484C>T (p.Arg162Cys) c.784C>T (p.Arg262Cys) c.739C>T (p.Arg247Cys) c.424+1183C>T c.517C>T (p.Arg173Cys) c.*594C>T (n.*594C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48905209G>C | CA412895405 | SLC35A2 | c.700C>G (p.Arg234Gly) c.355-317C>G (n.355-317C>G) c.427-317C>G (n.427-317C>G) c.262C>G c.484C>G (p.Arg162Gly) c.784C>G (p.Arg262Gly) c.739C>G (p.Arg247Gly) c.424+1183C>G c.517C>G (p.Arg173Gly) c.*594C>G (n.*594C>G) | |
X | g.48905209G= | CA2428428899 | SLC35A2 | c.700C= (p.Arg234=) c.355-317C= (n.355-317C=) c.427-317C= (n.427-317C=) c.262C= c.484C= (p.Arg162=) c.784C= (p.Arg262=) c.739C= (p.Arg247=) c.424+1183C= c.517C= (p.Arg173=) c.*594C= (n.*594C=) | |
X | g.48905209G>T | CA412895406 | SLC35A2 | c.700C>A (p.Arg234Ser) c.355-317C>A (n.355-317C>A) c.427-317C>A (n.427-317C>A) c.262C>A c.484C>A (p.Arg162Ser) c.784C>A (p.Arg262Ser) c.739C>A (p.Arg247Ser) c.424+1183C>A c.517C>A (p.Arg173Ser) c.*594C>A (n.*594C>A) | |
X | g.48905210C>A | CA516360068 | SLC35A2 | c.699G>T (p.Leu233=) c.355-318G>T (n.355-318G>T) c.427-318G>T (n.427-318G>T) c.261G>T c.483G>T (p.Leu161=) c.783G>T (p.Leu261=) c.738G>T (p.Leu246=) c.424+1182G>T c.516G>T (p.Leu172=) c.*593G>T (n.*593G>T) | |
X | g.48905210C>G | CA516360065 | SLC35A2 | c.699G>C (p.Leu233=) c.355-318G>C (n.355-318G>C) c.427-318G>C (n.427-318G>C) c.261G>C c.483G>C (p.Leu161=) c.783G>C (p.Leu261=) c.738G>C (p.Leu246=) c.424+1182G>C c.516G>C (p.Leu172=) c.*593G>C (n.*593G>C) | |
X | g.48905210C>T | CA516360063 | SLC35A2 | c.699G>A (p.Leu233=) c.355-318G>A (n.355-318G>A) c.427-318G>A (n.427-318G>A) c.261G>A c.483G>A (p.Leu161=) c.783G>A (p.Leu261=) c.738G>A (p.Leu246=) c.424+1182G>A c.516G>A (p.Leu172=) c.*593G>A (n.*593G>A) | |
X | g.48905211A>C | CA412895407 | SLC35A2 | c.698T>G (p.Leu233Arg) c.355-319T>G (n.355-319T>G) c.427-319T>G (n.427-319T>G) c.260T>G c.482T>G (p.Leu161Arg) c.782T>G (p.Leu261Arg) c.737T>G (p.Leu246Arg) c.424+1181T>G c.515T>G (p.Leu172Arg) c.*592T>G (n.*592T>G) | |
X | g.48905211A>G | CA412895408 | SLC35A2 | c.698T>C (p.Leu233Pro) c.355-319T>C (n.355-319T>C) c.427-319T>C (n.427-319T>C) c.260T>C c.482T>C (p.Leu161Pro) c.782T>C (p.Leu261Pro) c.737T>C (p.Leu246Pro) c.424+1181T>C c.515T>C (p.Leu172Pro) c.*592T>C (n.*592T>C) | |
X | g.48905211A>T | CA412895409 | SLC35A2 | c.698T>A (p.Leu233Gln) c.355-319T>A (n.355-319T>A) c.427-319T>A (n.427-319T>A) c.260T>A c.482T>A (p.Leu161Gln) c.782T>A (p.Leu261Gln) c.737T>A (p.Leu246Gln) c.424+1181T>A c.515T>A (p.Leu172Gln) c.*592T>A (n.*592T>A) | |
X | g.48905212G>A | CA516360071 | SLC35A2 | c.697C>T (p.Leu233=) c.355-320C>T (n.355-320C>T) c.427-320C>T (n.427-320C>T) c.259C>T c.481C>T (p.Leu161=) c.781C>T (p.Leu261=) c.736C>T (p.Leu246=) c.424+1180C>T c.514C>T (p.Leu172=) c.*591C>T (n.*591C>T) | |
X | g.48905212G>C | CA412895411 | SLC35A2 | c.697C>G (p.Leu233Val) c.355-320C>G (n.355-320C>G) c.427-320C>G (n.427-320C>G) c.259C>G c.481C>G (p.Leu161Val) c.781C>G (p.Leu261Val) c.736C>G (p.Leu246Val) c.424+1180C>G c.514C>G (p.Leu172Val) c.*591C>G (n.*591C>G) | |
X | g.48905212G>T | CA412895410 | SLC35A2 | c.697C>A (p.Leu233Met) c.355-320C>A (n.355-320C>A) c.427-320C>A (n.427-320C>A) c.259C>A c.481C>A (p.Leu161Met) c.781C>A (p.Leu261Met) c.736C>A (p.Leu246Met) c.424+1180C>A c.514C>A (p.Leu172Met) c.*591C>A (n.*591C>A) | |
X | g.48905213C>A | CA412895412 | SLC35A2 | c.696G>T (p.Trp232Cys) c.355-321G>T (n.355-321G>T) c.427-321G>T (n.427-321G>T) c.258G>T c.480G>T (p.Trp160Cys) c.780G>T (p.Trp260Cys) c.735G>T (p.Trp245Cys) c.424+1179G>T c.513G>T (p.Trp171Cys) c.*590G>T (n.*590G>T) | dbSNP |
X | g.48905213C= | CA2428428900 | SLC35A2 | c.696G= (p.Trp232=) c.355-321G= (n.355-321G=) c.427-321G= (n.427-321G=) c.258G= c.480G= (p.Trp160=) c.780G= (p.Trp260=) c.735G= (p.Trp245=) c.424+1179G= c.513G= (p.Trp171=) c.*590G= (n.*590G=) | |
X | g.48905213C>G | CA412895413 | SLC35A2 | c.696G>C (p.Trp232Cys) c.355-321G>C (n.355-321G>C) c.427-321G>C (n.427-321G>C) c.258G>C c.480G>C (p.Trp160Cys) c.780G>C (p.Trp260Cys) c.735G>C (p.Trp245Cys) c.424+1179G>C c.513G>C (p.Trp171Cys) c.*590G>C (n.*590G>C) | |
X | g.48905213C>T | CA412895414 | SLC35A2 | c.696G>A (p.Trp232Ter) c.355-321G>A (n.355-321G>A) c.427-321G>A (n.427-321G>A) c.258G>A c.480G>A (p.Trp160Ter) c.780G>A (p.Trp260Ter) c.735G>A (p.Trp245Ter) c.424+1179G>A c.513G>A (p.Trp171Ter) c.*590G>A (n.*590G>A) | ClinVar dbSNP |
X | g.48905214C>A | CA412895415 | SLC35A2 | c.695G>T (p.Trp232Leu) c.355-322G>T (n.355-322G>T) c.427-322G>T (n.427-322G>T) c.257G>T c.479G>T (p.Trp160Leu) c.779G>T (p.Trp260Leu) c.734G>T (p.Trp245Leu) c.424+1178G>T c.512G>T (p.Trp171Leu) c.*589G>T (n.*589G>T) | |
X | g.48905214C>G | CA412895416 | SLC35A2 | c.695G>C (p.Trp232Ser) c.355-322G>C (n.355-322G>C) c.427-322G>C (n.427-322G>C) c.257G>C c.479G>C (p.Trp160Ser) c.779G>C (p.Trp260Ser) c.734G>C (p.Trp245Ser) c.424+1178G>C c.512G>C (p.Trp171Ser) c.*589G>C (n.*589G>C) | |
X | g.48905214C>T | CA412895417 | SLC35A2 | c.695G>A (p.Trp232Ter) c.355-322G>A (n.355-322G>A) c.427-322G>A (n.427-322G>A) c.257G>A c.479G>A (p.Trp160Ter) c.779G>A (p.Trp260Ter) c.734G>A (p.Trp245Ter) c.424+1178G>A c.512G>A (p.Trp171Ter) c.*589G>A (n.*589G>A) | |
X | g.48905215A>C | CA412895418 | SLC35A2 | c.694T>G (p.Trp232Gly) c.355-323T>G (n.355-323T>G) c.427-323T>G (n.427-323T>G) c.256T>G c.478T>G (p.Trp160Gly) c.778T>G (p.Trp260Gly) c.733T>G (p.Trp245Gly) c.424+1177T>G c.511T>G (p.Trp171Gly) c.*588T>G (n.*588T>G) | |
X | g.48905215A>G | CA412895419 | SLC35A2 | c.694T>C (p.Trp232Arg) c.355-323T>C (n.355-323T>C) c.427-323T>C (n.427-323T>C) c.256T>C c.478T>C (p.Trp160Arg) c.778T>C (p.Trp260Arg) c.733T>C (p.Trp245Arg) c.424+1177T>C c.511T>C (p.Trp171Arg) c.*588T>C (n.*588T>C) | |
X | g.48905215A>T | CA412895420 | SLC35A2 | c.694T>A (p.Trp232Arg) c.355-323T>A (n.355-323T>A) c.427-323T>A (n.427-323T>A) c.256T>A c.478T>A (p.Trp160Arg) c.778T>A (p.Trp260Arg) c.733T>A (p.Trp245Arg) c.424+1177T>A c.511T>A (p.Trp171Arg) c.*588T>A (n.*588T>A) | |
X | g.48905216C>A | CA516360080 | SLC35A2 | c.693G>T (p.Val231=) c.355-324G>T (n.355-324G>T) c.427-324G>T (n.427-324G>T) c.255G>T c.477G>T (p.Val159=) c.777G>T (p.Val259=) c.732G>T (p.Val244=) c.424+1176G>T c.510G>T (p.Val170=) c.*587G>T (n.*587G>T) | |
X | g.48905216C>G | CA516360083 | SLC35A2 | c.693G>C (p.Val231=) c.355-324G>C (n.355-324G>C) c.427-324G>C (n.427-324G>C) c.255G>C c.477G>C (p.Val159=) c.777G>C (p.Val259=) c.732G>C (p.Val244=) c.424+1176G>C c.510G>C (p.Val170=) c.*587G>C (n.*587G>C) | |
X | g.48905216C>T | CA516360084 | SLC35A2 | c.693G>A (p.Val231=) c.355-324G>A (n.355-324G>A) c.427-324G>A (n.427-324G>A) c.255G>A c.477G>A (p.Val159=) c.777G>A (p.Val259=) c.732G>A (p.Val244=) c.424+1176G>A c.510G>A (p.Val170=) c.*587G>A (n.*587G>A) | |
X | g.48905217A>C | CA412895421 | SLC35A2 | c.692T>G (p.Val231Gly) c.355-325T>G (n.355-325T>G) c.427-325T>G (n.427-325T>G) c.254T>G c.476T>G (p.Val159Gly) c.776T>G (p.Val259Gly) c.731T>G (p.Val244Gly) c.424+1175T>G c.509T>G (p.Val170Gly) c.*586T>G (n.*586T>G) | |
X | g.48905217A>G | CA412895422 | SLC35A2 | c.692T>C (p.Val231Ala) c.355-325T>C (n.355-325T>C) c.427-325T>C (n.427-325T>C) c.254T>C c.476T>C (p.Val159Ala) c.776T>C (p.Val259Ala) c.731T>C (p.Val244Ala) c.424+1175T>C c.509T>C (p.Val170Ala) c.*586T>C (n.*586T>C) | |
X | g.48905217A>T | CA412895423 | SLC35A2 | c.692T>A (p.Val231Glu) c.355-325T>A (n.355-325T>A) c.427-325T>A (n.427-325T>A) c.254T>A c.476T>A (p.Val159Glu) c.776T>A (p.Val259Glu) c.731T>A (p.Val244Glu) c.424+1175T>A c.509T>A (p.Val170Glu) c.*586T>A (n.*586T>A) | |
X | g.48905218C>A | CA412895425 | SLC35A2 | c.691G>T (p.Val231Leu) c.355-326G>T (n.355-326G>T) c.427-326G>T (n.427-326G>T) c.253G>T c.475G>T (p.Val159Leu) c.775G>T (p.Val259Leu) c.730G>T (p.Val244Leu) c.424+1174G>T c.508G>T (p.Val170Leu) c.*585G>T (n.*585G>T) | |
X | g.48905218C= | CA2428428901 | SLC35A2 | c.691G= (p.Val231=) c.355-326G= (n.355-326G=) c.427-326G= (n.427-326G=) c.253G= c.475G= (p.Val159=) c.775G= (p.Val259=) c.730G= (p.Val244=) c.424+1174G= c.508G= (p.Val170=) c.*585G= (n.*585G=) | |
X | g.48905218C>G | CA412895424 | SLC35A2 | c.691G>C (p.Val231Leu) c.355-326G>C (n.355-326G>C) c.427-326G>C (n.427-326G>C) c.253G>C c.475G>C (p.Val159Leu) c.775G>C (p.Val259Leu) c.730G>C (p.Val244Leu) c.424+1174G>C c.508G>C (p.Val170Leu) c.*585G>C (n.*585G>C) | |
X | g.48905218C>T | CA329098894 | SLC35A2 | c.691G>A (p.Val231Met) c.355-326G>A (n.355-326G>A) c.427-326G>A (n.427-326G>A) c.253G>A c.475G>A (p.Val159Met) c.775G>A (p.Val259Met) c.730G>A (p.Val244Met) c.424+1174G>A c.508G>A (p.Val170Met) c.*585G>A (n.*585G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905219G>A | CA10406105 | SLC35A2 | c.690C>T (p.Ser230=) c.355-327C>T (n.355-327C>T) c.427-327C>T (n.427-327C>T) c.252C>T c.474C>T (p.Ser158=) c.774C>T (p.Ser258=) c.729C>T (p.Ser243=) c.424+1173C>T c.507C>T (p.Ser169=) c.*584C>T (n.*584C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48905219G>C | CA516360089 | SLC35A2 | c.690C>G (p.Ser230=) c.355-327C>G (n.355-327C>G) c.427-327C>G (n.427-327C>G) c.252C>G c.474C>G (p.Ser158=) c.774C>G (p.Ser258=) c.729C>G (p.Ser243=) c.424+1173C>G c.507C>G (p.Ser169=) c.*584C>G (n.*584C>G) | |
X | g.48905219G= | CA2428428902 | SLC35A2 | c.690C= (p.Ser230=) c.355-327C= (n.355-327C=) c.427-327C= (n.427-327C=) c.252C= c.474C= (p.Ser158=) c.774C= (p.Ser258=) c.729C= (p.Ser243=) c.424+1173C= c.507C= (p.Ser169=) c.*584C= (n.*584C=) | |
X | g.48905219G>T | CA516360091 | SLC35A2 | c.690C>A (p.Ser230=) c.355-327C>A (n.355-327C>A) c.427-327C>A (n.427-327C>A) c.252C>A c.474C>A (p.Ser158=) c.774C>A (p.Ser258=) c.729C>A (p.Ser243=) c.424+1173C>A c.507C>A (p.Ser169=) c.*584C>A (n.*584C>A) | |
X | g.48905220G>A | CA412895426 | SLC35A2 | c.689C>T (p.Ser230Phe) c.355-328C>T (n.355-328C>T) c.427-328C>T (n.427-328C>T) c.251C>T c.473C>T (p.Ser158Phe) c.773C>T (p.Ser258Phe) c.728C>T (p.Ser243Phe) c.424+1172C>T c.506C>T (p.Ser169Phe) c.*583C>T (n.*583C>T) | |
X | g.48905220G>C | CA412895427 | SLC35A2 | c.689C>G (p.Ser230Cys) c.355-328C>G (n.355-328C>G) c.427-328C>G (n.427-328C>G) c.251C>G c.473C>G (p.Ser158Cys) c.773C>G (p.Ser258Cys) c.728C>G (p.Ser243Cys) c.424+1172C>G c.506C>G (p.Ser169Cys) c.*583C>G (n.*583C>G) | |
X | g.48905220G>T | CA412895428 | SLC35A2 | c.689C>A (p.Ser230Tyr) c.355-328C>A (n.355-328C>A) c.427-328C>A (n.427-328C>A) c.251C>A c.473C>A (p.Ser158Tyr) c.773C>A (p.Ser258Tyr) c.728C>A (p.Ser243Tyr) c.424+1172C>A c.506C>A (p.Ser169Tyr) c.*583C>A (n.*583C>A) | |
X | g.48905221A>C | CA412895429 | SLC35A2 | c.688T>G (p.Ser230Ala) c.355-329T>G (n.355-329T>G) c.427-329T>G (n.427-329T>G) c.250T>G c.472T>G (p.Ser158Ala) c.772T>G (p.Ser258Ala) c.727T>G (p.Ser243Ala) c.424+1171T>G c.505T>G (p.Ser169Ala) c.*582T>G (n.*582T>G) | |
X | g.48905221A>G | CA412895430 | SLC35A2 | c.688T>C (p.Ser230Pro) c.355-329T>C (n.355-329T>C) c.427-329T>C (n.427-329T>C) c.250T>C c.472T>C (p.Ser158Pro) c.772T>C (p.Ser258Pro) c.727T>C (p.Ser243Pro) c.424+1171T>C c.505T>C (p.Ser169Pro) c.*582T>C (n.*582T>C) | |
X | g.48905221A>T | CA412895431 | SLC35A2 | c.688T>A (p.Ser230Thr) c.355-329T>A (n.355-329T>A) c.427-329T>A (n.427-329T>A) c.250T>A c.472T>A (p.Ser158Thr) c.772T>A (p.Ser258Thr) c.727T>A (p.Ser243Thr) c.424+1171T>A c.505T>A (p.Ser169Thr) c.*582T>A (n.*582T>A) | |
X | g.48905222G>A | CA516360096 | SLC35A2 | c.687C>T (p.Gly229=) c.355-330C>T (n.355-330C>T) c.427-330C>T (n.427-330C>T) c.249C>T c.471C>T (p.Gly157=) c.771C>T (p.Gly257=) c.726C>T (p.Gly242=) c.424+1170C>T c.504C>T (p.Gly168=) c.*581C>T (n.*581C>T) | |
X | g.48905222G>C | CA516360097 | SLC35A2 | c.687C>G (p.Gly229=) c.355-330C>G (n.355-330C>G) c.427-330C>G (n.427-330C>G) c.249C>G c.471C>G (p.Gly157=) c.771C>G (p.Gly257=) c.726C>G (p.Gly242=) c.424+1170C>G c.504C>G (p.Gly168=) c.*581C>G (n.*581C>G) | |
X | g.48905222G= | CA2428428903 | SLC35A2 | c.687C= (p.Gly229=) c.355-330C= (n.355-330C=) c.427-330C= (n.427-330C=) c.249C= c.471C= (p.Gly157=) c.771C= (p.Gly257=) c.726C= (p.Gly242=) c.424+1170C= c.504C= (p.Gly168=) c.*581C= (n.*581C=) | |
X | g.48905222G>T | CA516360100 | SLC35A2 | c.687C>A (p.Gly229=) c.355-330C>A (n.355-330C>A) c.427-330C>A (n.427-330C>A) c.249C>A c.471C>A (p.Gly157=) c.771C>A (p.Gly257=) c.726C>A (p.Gly242=) c.424+1170C>A c.504C>A (p.Gly168=) c.*581C>A (n.*581C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905223C>A | CA412895432 | SLC35A2 | c.686G>T (p.Gly229Val) c.355-331G>T (n.355-331G>T) c.427-331G>T (n.427-331G>T) c.248G>T c.470G>T (p.Gly157Val) c.770G>T (p.Gly257Val) c.725G>T (p.Gly242Val) c.424+1169G>T c.503G>T (p.Gly168Val) c.*580G>T (n.*580G>T) | |
X | g.48905223C>G | CA412895433 | SLC35A2 | c.686G>C (p.Gly229Ala) c.355-331G>C (n.355-331G>C) c.427-331G>C (n.427-331G>C) c.248G>C c.470G>C (p.Gly157Ala) c.770G>C (p.Gly257Ala) c.725G>C (p.Gly242Ala) c.424+1169G>C c.503G>C (p.Gly168Ala) c.*580G>C (n.*580G>C) | |
X | g.48905223C>T | CA412895434 | SLC35A2 | c.686G>A (p.Gly229Asp) c.355-331G>A (n.355-331G>A) c.427-331G>A (n.427-331G>A) c.248G>A c.470G>A (p.Gly157Asp) c.770G>A (p.Gly257Asp) c.725G>A (p.Gly242Asp) c.424+1169G>A c.503G>A (p.Gly168Asp) c.*580G>A (n.*580G>A) | |
X | g.48905224C>A | CA412895435 | SLC35A2 | c.685G>T (p.Gly229Cys) c.355-332G>T (n.355-332G>T) c.427-332G>T (n.427-332G>T) c.247G>T c.469G>T (p.Gly157Cys) c.769G>T (p.Gly257Cys) c.724G>T (p.Gly242Cys) c.424+1168G>T c.502G>T (p.Gly168Cys) c.*579G>T (n.*579G>T) | gnomAD v4 |
X | g.48905224C= | CA2428428904 | SLC35A2 | c.685G= (p.Gly229=) c.355-332G= (n.355-332G=) c.427-332G= (n.427-332G=) c.247G= c.469G= (p.Gly157=) c.769G= (p.Gly257=) c.724G= (p.Gly242=) c.424+1168G= c.502G= (p.Gly168=) c.*579G= (n.*579G=) | |
X | g.48905224C>G | CA412895436 | SLC35A2 | c.685G>C (p.Gly229Arg) c.355-332G>C (n.355-332G>C) c.427-332G>C (n.427-332G>C) c.247G>C c.469G>C (p.Gly157Arg) c.769G>C (p.Gly257Arg) c.724G>C (p.Gly242Arg) c.424+1168G>C c.502G>C (p.Gly168Arg) c.*579G>C (n.*579G>C) | |
X | g.48905224C>T | CA412895437 | SLC35A2 | c.685G>A (p.Gly229Ser) c.355-332G>A (n.355-332G>A) c.427-332G>A (n.427-332G>A) c.247G>A c.469G>A (p.Gly157Ser) c.769G>A (p.Gly257Ser) c.724G>A (p.Gly242Ser) c.424+1168G>A c.502G>A (p.Gly168Ser) c.*579G>A (n.*579G>A) | ClinVar dbSNP |
X | g.48905225T>A | CA516360105 | SLC35A2 | c.684A>T (p.Ser228=) c.355-333A>T (n.355-333A>T) c.427-333A>T (n.427-333A>T) c.246A>T c.468A>T (p.Ser156=) c.768A>T (p.Ser256=) c.723A>T (p.Ser241=) c.424+1167A>T c.501A>T (p.Ser167=) c.*578A>T (n.*578A>T) | |
X | g.48905225T>C | CA516360106 | SLC35A2 | c.684A>G (p.Ser228=) c.355-333A>G (n.355-333A>G) c.427-333A>G (n.427-333A>G) c.246A>G c.468A>G (p.Ser156=) c.768A>G (p.Ser256=) c.723A>G (p.Ser241=) c.424+1167A>G c.501A>G (p.Ser167=) c.*578A>G (n.*578A>G) | gnomAD v4 |
X | g.48905225T>G | CA516360107 | SLC35A2 | c.684A>C (p.Ser228=) c.355-333A>C (n.355-333A>C) c.427-333A>C (n.427-333A>C) c.246A>C c.468A>C (p.Ser156=) c.768A>C (p.Ser256=) c.723A>C (p.Ser241=) c.424+1167A>C c.501A>C (p.Ser167=) c.*578A>C (n.*578A>C) | |
X | g.48905226G>A | CA412895440 | SLC35A2 | c.683C>T (p.Ser228Leu) c.355-334C>T (n.355-334C>T) c.427-334C>T (n.427-334C>T) c.245C>T c.467C>T (p.Ser156Leu) c.767C>T (p.Ser256Leu) c.722C>T (p.Ser241Leu) c.424+1166C>T c.500C>T (p.Ser167Leu) c.*577C>T (n.*577C>T) | |
X | g.48905226G>C | CA412895439 | SLC35A2 | c.683C>G (p.Ser228Ter) c.355-334C>G (n.355-334C>G) c.427-334C>G (n.427-334C>G) c.245C>G c.467C>G (p.Ser156Ter) c.767C>G (p.Ser256Ter) c.722C>G (p.Ser241Ter) c.424+1166C>G c.500C>G (p.Ser167Ter) c.*577C>G (n.*577C>G) | |
X | g.48905226G>T | CA412895438 | SLC35A2 | c.683C>A (p.Ser228Ter) c.355-334C>A (n.355-334C>A) c.427-334C>A (n.427-334C>A) c.245C>A c.467C>A (p.Ser156Ter) c.767C>A (p.Ser256Ter) c.722C>A (p.Ser241Ter) c.424+1166C>A c.500C>A (p.Ser167Ter) c.*577C>A (n.*577C>A) | |
X | g.48905227A>C | CA412895441 | SLC35A2 | c.682T>G (p.Ser228Ala) c.355-335T>G (n.355-335T>G) c.427-335T>G (n.427-335T>G) c.244T>G c.466T>G (p.Ser156Ala) c.766T>G (p.Ser256Ala) c.721T>G (p.Ser241Ala) c.424+1165T>G c.499T>G (p.Ser167Ala) c.*576T>G (n.*576T>G) | |
X | g.48905227A>G | CA412895442 | SLC35A2 | c.682T>C (p.Ser228Pro) c.355-335T>C (n.355-335T>C) c.427-335T>C (n.427-335T>C) c.244T>C c.466T>C (p.Ser156Pro) c.766T>C (p.Ser256Pro) c.721T>C (p.Ser241Pro) c.424+1165T>C c.499T>C (p.Ser167Pro) c.*576T>C (n.*576T>C) | |
X | g.48905227A>T | CA412895443 | SLC35A2 | c.682T>A (p.Ser228Thr) c.355-335T>A (n.355-335T>A) c.427-335T>A (n.427-335T>A) c.244T>A c.466T>A (p.Ser156Thr) c.766T>A (p.Ser256Thr) c.721T>A (p.Ser241Thr) c.424+1165T>A c.499T>A (p.Ser167Thr) c.*576T>A (n.*576T>A) | |
X | g.48905228G>A | CA516360114 | SLC35A2 | c.681C>T (p.Ser227=) c.355-336C>T (n.355-336C>T) c.427-336C>T (n.427-336C>T) c.243C>T c.465C>T (p.Ser155=) c.765C>T (p.Ser255=) c.720C>T (p.Ser240=) c.424+1164C>T c.498C>T (p.Ser166=) c.*575C>T (n.*575C>T) | |
X | g.48905228G>C | CA412895444 | SLC35A2 | c.681C>G (p.Ser227Arg) c.355-336C>G (n.355-336C>G) c.427-336C>G (n.427-336C>G) c.243C>G c.465C>G (p.Ser155Arg) c.765C>G (p.Ser255Arg) c.720C>G (p.Ser240Arg) c.424+1164C>G c.498C>G (p.Ser166Arg) c.*575C>G (n.*575C>G) | |
X | g.48905228G>T | CA412895445 | SLC35A2 | c.681C>A (p.Ser227Arg) c.355-336C>A (n.355-336C>A) c.427-336C>A (n.427-336C>A) c.243C>A c.465C>A (p.Ser155Arg) c.765C>A (p.Ser255Arg) c.720C>A (p.Ser240Arg) c.424+1164C>A c.498C>A (p.Ser166Arg) c.*575C>A (n.*575C>A) | |
X | g.48905229C>A | CA412895446 | SLC35A2 | c.680G>T (p.Ser227Ile) c.355-337G>T (n.355-337G>T) c.427-337G>T (n.427-337G>T) c.242G>T c.464G>T (p.Ser155Ile) c.764G>T (p.Ser255Ile) c.719G>T (p.Ser240Ile) c.424+1163G>T c.497G>T (p.Ser166Ile) c.*574G>T (n.*574G>T) | gnomAD v4 |
X | g.48905229C>G | CA412895447 | SLC35A2 | c.680G>C (p.Ser227Thr) c.355-337G>C (n.355-337G>C) c.427-337G>C (n.427-337G>C) c.242G>C c.464G>C (p.Ser155Thr) c.764G>C (p.Ser255Thr) c.719G>C (p.Ser240Thr) c.424+1163G>C c.497G>C (p.Ser166Thr) c.*574G>C (n.*574G>C) | |
X | g.48905229C>T | CA412895448 | SLC35A2 | c.680G>A (p.Ser227Asn) c.355-337G>A (n.355-337G>A) c.427-337G>A (n.427-337G>A) c.242G>A c.464G>A (p.Ser155Asn) c.764G>A (p.Ser255Asn) c.719G>A (p.Ser240Asn) c.424+1163G>A c.497G>A (p.Ser166Asn) c.*574G>A (n.*574G>A) | |
X | g.48905230T>A | CA412895449 | SLC35A2 | c.679A>T (p.Ser227Cys) c.355-338A>T (n.355-338A>T) c.427-338A>T (n.427-338A>T) c.241A>T c.463A>T (p.Ser155Cys) c.763A>T (p.Ser255Cys) c.718A>T (p.Ser240Cys) c.424+1162A>T c.496A>T (p.Ser166Cys) c.*573A>T (n.*573A>T) | |
X | g.48905230T>C | CA412895450 | SLC35A2 | c.679A>G (p.Ser227Gly) c.355-338A>G (n.355-338A>G) c.427-338A>G (n.427-338A>G) c.241A>G c.463A>G (p.Ser155Gly) c.763A>G (p.Ser255Gly) c.718A>G (p.Ser240Gly) c.424+1162A>G c.496A>G (p.Ser166Gly) c.*573A>G (n.*573A>G) | |
X | g.48905230T>G | CA412895451 | SLC35A2 | c.679A>C (p.Ser227Arg) c.355-338A>C (n.355-338A>C) c.427-338A>C (n.427-338A>C) c.241A>C c.463A>C (p.Ser155Arg) c.763A>C (p.Ser255Arg) c.718A>C (p.Ser240Arg) c.424+1162A>C c.496A>C (p.Ser166Arg) c.*573A>C (n.*573A>C) | dbSNP |
X | g.48905230T= | CA2428428905 | SLC35A2 | c.679A= (p.Ser227=) c.355-338A= (n.355-338A=) c.427-338A= (n.427-338A=) c.241A= c.463A= (p.Ser155=) c.763A= (p.Ser255=) c.718A= (p.Ser240=) c.424+1162A= c.496A= (p.Ser166=) c.*573A= (n.*573A=) | |
X | g.48905231G>A | CA516360120 | SLC35A2 | c.678C>T (p.Gly226=) c.355-339C>T (n.355-339C>T) c.427-339C>T (n.427-339C>T) c.240C>T c.462C>T (p.Gly154=) c.762C>T (p.Gly254=) c.717C>T (p.Gly239=) c.424+1161C>T c.495C>T (p.Gly165=) c.*572C>T (n.*572C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48905231G>C | CA516360118 | SLC35A2 | c.678C>G (p.Gly226=) c.355-339C>G (n.355-339C>G) c.427-339C>G (n.427-339C>G) c.240C>G c.462C>G (p.Gly154=) c.762C>G (p.Gly254=) c.717C>G (p.Gly239=) c.424+1161C>G c.495C>G (p.Gly165=) c.*572C>G (n.*572C>G) | |
X | g.48905231G= | CA2428428906 | SLC35A2 | c.678C= (p.Gly226=) c.355-339C= (n.355-339C=) c.427-339C= (n.427-339C=) c.240C= c.462C= (p.Gly154=) c.762C= (p.Gly254=) c.717C= (p.Gly239=) c.424+1161C= c.495C= (p.Gly165=) c.*572C= (n.*572C=) | |
X | g.48905231G>T | CA516360116 | SLC35A2 | c.678C>A (p.Gly226=) c.355-339C>A (n.355-339C>A) c.427-339C>A (n.427-339C>A) c.240C>A c.462C>A (p.Gly154=) c.762C>A (p.Gly254=) c.717C>A (p.Gly239=) c.424+1161C>A c.495C>A (p.Gly165=) c.*572C>A (n.*572C>A) | |
X | g.48905232C>A | CA412895452 | SLC35A2 | c.677G>T (p.Gly226Val) c.355-340G>T (n.355-340G>T) c.427-340G>T (n.427-340G>T) c.239G>T c.461G>T (p.Gly154Val) c.761G>T (p.Gly254Val) c.716G>T (p.Gly239Val) c.424+1160G>T c.494G>T (p.Gly165Val) c.*571G>T (n.*571G>T) | |
X | g.48905232C>G | CA412895453 | SLC35A2 | c.677G>C (p.Gly226Ala) c.355-340G>C (n.355-340G>C) c.427-340G>C (n.427-340G>C) c.239G>C c.461G>C (p.Gly154Ala) c.761G>C (p.Gly254Ala) c.716G>C (p.Gly239Ala) c.424+1160G>C c.494G>C (p.Gly165Ala) c.*571G>C (n.*571G>C) | |
X | g.48905232C>T | CA412895454 | SLC35A2 | c.677G>A (p.Gly226Asp) c.355-340G>A (n.355-340G>A) c.427-340G>A (n.427-340G>A) c.239G>A c.461G>A (p.Gly154Asp) c.761G>A (p.Gly254Asp) c.716G>A (p.Gly239Asp) c.424+1160G>A c.494G>A (p.Gly165Asp) c.*571G>A (n.*571G>A) | |
X | g.48905233C>A | CA412895456 | SLC35A2 | c.676G>T (p.Gly226Cys) c.355-341G>T (n.355-341G>T) c.427-341G>T (n.427-341G>T) c.238G>T c.460G>T (p.Gly154Cys) c.760G>T (p.Gly254Cys) c.715G>T (p.Gly239Cys) c.424+1159G>T c.493G>T (p.Gly165Cys) c.*570G>T (n.*570G>T) | |
X | g.48905233C>G | CA412895457 | SLC35A2 | c.676G>C (p.Gly226Arg) c.355-341G>C (n.355-341G>C) c.427-341G>C (n.427-341G>C) c.238G>C c.460G>C (p.Gly154Arg) c.760G>C (p.Gly254Arg) c.715G>C (p.Gly239Arg) c.424+1159G>C c.493G>C (p.Gly165Arg) c.*570G>C (n.*570G>C) | |
X | g.48905233C>T | CA412895455 | SLC35A2 | c.676G>A (p.Gly226Ser) c.355-341G>A (n.355-341G>A) c.427-341G>A (n.427-341G>A) c.238G>A c.460G>A (p.Gly154Ser) c.760G>A (p.Gly254Ser) c.715G>A (p.Gly239Ser) c.424+1159G>A c.493G>A (p.Gly165Ser) c.*570G>A (n.*570G>A) | |
X | g.48905234T>A | CA412895458 | SLC35A2 | c.675A>T (p.Lys225Asn) c.355-342A>T (n.355-342A>T) c.427-342A>T (n.427-342A>T) c.237A>T c.459A>T (p.Lys153Asn) c.759A>T (p.Lys253Asn) c.714A>T (p.Lys238Asn) c.424+1158A>T c.492A>T (p.Lys164Asn) c.*569A>T (n.*569A>T) | |
X | g.48905234T>C | CA516360124 | SLC35A2 | c.675A>G (p.Lys225=) c.355-342A>G (n.355-342A>G) c.427-342A>G (n.427-342A>G) c.237A>G c.459A>G (p.Lys153=) c.759A>G (p.Lys253=) c.714A>G (p.Lys238=) c.424+1158A>G c.492A>G (p.Lys164=) c.*569A>G (n.*569A>G) | |
X | g.48905234T>G | CA412895459 | SLC35A2 | c.675A>C (p.Lys225Asn) c.355-342A>C (n.355-342A>C) c.427-342A>C (n.427-342A>C) c.237A>C c.459A>C (p.Lys153Asn) c.759A>C (p.Lys253Asn) c.714A>C (p.Lys238Asn) c.424+1158A>C c.492A>C (p.Lys164Asn) c.*569A>C (n.*569A>C) | |
X | g.48905235T>A | CA412895460 | SLC35A2 | c.674A>T (p.Lys225Ile) c.355-343A>T (n.355-343A>T) c.427-343A>T (n.427-343A>T) c.236A>T c.458A>T (p.Lys153Ile) c.758A>T (p.Lys253Ile) c.713A>T (p.Lys238Ile) c.424+1157A>T c.491A>T (p.Lys164Ile) c.*568A>T (n.*568A>T) | |
X | g.48905235T>C | CA412895461 | SLC35A2 | c.674A>G (p.Lys225Arg) c.355-343A>G (n.355-343A>G) c.427-343A>G (n.427-343A>G) c.236A>G c.458A>G (p.Lys153Arg) c.758A>G (p.Lys253Arg) c.713A>G (p.Lys238Arg) c.424+1157A>G c.491A>G (p.Lys164Arg) c.*568A>G (n.*568A>G) | |
X | g.48905235T>G | CA412895462 | SLC35A2 | c.674A>C (p.Lys225Thr) c.355-343A>C (n.355-343A>C) c.427-343A>C (n.427-343A>C) c.236A>C c.458A>C (p.Lys153Thr) c.758A>C (p.Lys253Thr) c.713A>C (p.Lys238Thr) c.424+1157A>C c.491A>C (p.Lys164Thr) c.*568A>C (n.*568A>C) | |
X | g.48905236T>A | CA412895463 | SLC35A2 | c.673A>T (p.Lys225Ter) c.355-344A>T (n.355-344A>T) c.427-344A>T (n.427-344A>T) c.235A>T c.457A>T (p.Lys153Ter) c.757A>T (p.Lys253Ter) c.712A>T (p.Lys238Ter) c.424+1156A>T c.490A>T (p.Lys164Ter) c.*567A>T (n.*567A>T) | |
X | g.48905236T>C | CA412895464 | SLC35A2 | c.673A>G (p.Lys225Glu) c.355-344A>G (n.355-344A>G) c.427-344A>G (n.427-344A>G) c.235A>G c.457A>G (p.Lys153Glu) c.757A>G (p.Lys253Glu) c.712A>G (p.Lys238Glu) c.424+1156A>G c.490A>G (p.Lys164Glu) c.*567A>G (n.*567A>G) | |
X | g.48905236T>G | CA412895465 | SLC35A2 | c.673A>C (p.Lys225Gln) c.355-344A>C (n.355-344A>C) c.427-344A>C (n.427-344A>C) c.235A>C c.457A>C (p.Lys153Gln) c.757A>C (p.Lys253Gln) c.712A>C (p.Lys238Gln) c.424+1156A>C c.490A>C (p.Lys164Gln) c.*567A>C (n.*567A>C) | |
X | g.48905237G>A | CA516360132 | SLC35A2 | c.672C>T (p.Leu224=) c.355-345C>T (n.355-345C>T) c.427-345C>T (n.427-345C>T) c.234C>T c.456C>T (p.Leu152=) c.756C>T (p.Leu252=) c.711C>T (p.Leu237=) c.424+1155C>T c.489C>T (p.Leu163=) c.*566C>T (n.*566C>T) | |
X | g.48905237G>C | CA516360134 | SLC35A2 | c.672C>G (p.Leu224=) c.355-345C>G (n.355-345C>G) c.427-345C>G (n.427-345C>G) c.234C>G c.456C>G (p.Leu152=) c.756C>G (p.Leu252=) c.711C>G (p.Leu237=) c.424+1155C>G c.489C>G (p.Leu163=) c.*566C>G (n.*566C>G) | |
X | g.48905237G>T | CA516360133 | SLC35A2 | c.672C>A (p.Leu224=) c.355-345C>A (n.355-345C>A) c.427-345C>A (n.427-345C>A) c.234C>A c.456C>A (p.Leu152=) c.756C>A (p.Leu252=) c.711C>A (p.Leu237=) c.424+1155C>A c.489C>A (p.Leu163=) c.*566C>A (n.*566C>A) | |
X | g.48905238A>C | CA412895466 | SLC35A2 | c.671T>G (p.Leu224Arg) c.355-346T>G (n.355-346T>G) c.427-346T>G (n.427-346T>G) c.233T>G c.455T>G (p.Leu152Arg) c.755T>G (p.Leu252Arg) c.710T>G (p.Leu237Arg) c.424+1154T>G c.488T>G (p.Leu163Arg) c.*565T>G (n.*565T>G) | |
X | g.48905238A>G | CA412895467 | SLC35A2 | c.671T>C (p.Leu224Pro) c.355-346T>C (n.355-346T>C) c.427-346T>C (n.427-346T>C) c.233T>C c.455T>C (p.Leu152Pro) c.755T>C (p.Leu252Pro) c.710T>C (p.Leu237Pro) c.424+1154T>C c.488T>C (p.Leu163Pro) c.*565T>C (n.*565T>C) | |
X | g.48905238A>T | CA412895468 | SLC35A2 | c.671T>A (p.Leu224His) c.355-346T>A (n.355-346T>A) c.427-346T>A (n.427-346T>A) c.233T>A c.455T>A (p.Leu152His) c.755T>A (p.Leu252His) c.710T>A (p.Leu237His) c.424+1154T>A c.488T>A (p.Leu163His) c.*565T>A (n.*565T>A) | |
X | g.48905239G>A | CA412895469 | SLC35A2 | c.670C>T (p.Leu224Phe) c.355-347C>T (n.355-347C>T) c.427-347C>T (n.427-347C>T) c.232C>T c.454C>T (p.Leu152Phe) c.754C>T (p.Leu252Phe) c.709C>T (p.Leu237Phe) c.424+1153C>T c.487C>T (p.Leu163Phe) c.*564C>T (n.*564C>T) | |
X | g.48905239G>C | CA412895470 | SLC35A2 | c.670C>G (p.Leu224Val) c.355-347C>G (n.355-347C>G) c.427-347C>G (n.427-347C>G) c.232C>G c.454C>G (p.Leu152Val) c.754C>G (p.Leu252Val) c.709C>G (p.Leu237Val) c.424+1153C>G c.487C>G (p.Leu163Val) c.*564C>G (n.*564C>G) | |
X | g.48905239G>T | CA412895471 | SLC35A2 | c.670C>A (p.Leu224Ile) c.355-347C>A (n.355-347C>A) c.427-347C>A (n.427-347C>A) c.232C>A c.454C>A (p.Leu152Ile) c.754C>A (p.Leu252Ile) c.709C>A (p.Leu237Ile) c.424+1153C>A c.487C>A (p.Leu163Ile) c.*564C>A (n.*564C>A) | |
X | g.48905240G>A | CA10406106 | SLC35A2 | c.669C>T (p.Ile223=) c.355-348C>T (n.355-348C>T) c.427-348C>T (n.427-348C>T) c.231C>T c.453C>T (p.Ile151=) c.753C>T (p.Ile251=) c.708C>T (p.Ile236=) c.424+1152C>T c.486C>T (p.Ile162=) c.*563C>T (n.*563C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905240G>C | CA412895472 | SLC35A2 | c.669C>G (p.Ile223Met) c.355-348C>G (n.355-348C>G) c.427-348C>G (n.427-348C>G) c.231C>G c.453C>G (p.Ile151Met) c.753C>G (p.Ile251Met) c.708C>G (p.Ile236Met) c.424+1152C>G c.486C>G (p.Ile162Met) c.*563C>G (n.*563C>G) | gnomAD v4 |
X | g.48905240G= | CA2428428907 | SLC35A2 | c.669C= (p.Ile223=) c.355-348C= (n.355-348C=) c.427-348C= (n.427-348C=) c.231C= c.453C= (p.Ile151=) c.753C= (p.Ile251=) c.708C= (p.Ile236=) c.424+1152C= c.486C= (p.Ile162=) c.*563C= (n.*563C=) | |
X | g.48905240G>T | CA516360143 | SLC35A2 | c.669C>A (p.Ile223=) c.355-348C>A (n.355-348C>A) c.427-348C>A (n.427-348C>A) c.231C>A c.453C>A (p.Ile151=) c.753C>A (p.Ile251=) c.708C>A (p.Ile236=) c.424+1152C>A c.486C>A (p.Ile162=) c.*563C>A (n.*563C>A) | |
X | g.48905241A>C | CA412895473 | SLC35A2 | c.668T>G (p.Ile223Ser) c.355-349T>G (n.355-349T>G) c.427-349T>G (n.427-349T>G) c.230T>G c.452T>G (p.Ile151Ser) c.752T>G (p.Ile251Ser) c.707T>G (p.Ile236Ser) c.424+1151T>G c.485T>G (p.Ile162Ser) c.*562T>G (n.*562T>G) | |
X | g.48905241A>G | CA412895474 | SLC35A2 | c.668T>C (p.Ile223Thr) c.355-349T>C (n.355-349T>C) c.427-349T>C (n.427-349T>C) c.230T>C c.452T>C (p.Ile151Thr) c.752T>C (p.Ile251Thr) c.707T>C (p.Ile236Thr) c.424+1151T>C c.485T>C (p.Ile162Thr) c.*562T>C (n.*562T>C) | |
X | g.48905241A>T | CA412895475 | SLC35A2 | c.668T>A (p.Ile223Asn) c.355-349T>A (n.355-349T>A) c.427-349T>A (n.427-349T>A) c.230T>A c.452T>A (p.Ile151Asn) c.752T>A (p.Ile251Asn) c.707T>A (p.Ile236Asn) c.424+1151T>A c.485T>A (p.Ile162Asn) c.*562T>A (n.*562T>A) | |
X | g.48905242T>A | CA412895476 | SLC35A2 | c.667A>T (p.Ile223Phe) c.355-350A>T (n.355-350A>T) c.427-350A>T (n.427-350A>T) c.229A>T c.451A>T (p.Ile151Phe) c.751A>T (p.Ile251Phe) c.706A>T (p.Ile236Phe) c.424+1150A>T c.484A>T (p.Ile162Phe) c.*561A>T (n.*561A>T) | |
X | g.48905242T>C | CA412895477 | SLC35A2 | c.667A>G (p.Ile223Val) c.355-350A>G (n.355-350A>G) c.427-350A>G (n.427-350A>G) c.229A>G c.451A>G (p.Ile151Val) c.751A>G (p.Ile251Val) c.706A>G (p.Ile236Val) c.424+1150A>G c.484A>G (p.Ile162Val) c.*561A>G (n.*561A>G) | |
X | g.48905242T>G | CA412895478 | SLC35A2 | c.667A>C (p.Ile223Leu) c.355-350A>C (n.355-350A>C) c.427-350A>C (n.427-350A>C) c.229A>C c.451A>C (p.Ile151Leu) c.751A>C (p.Ile251Leu) c.706A>C (p.Ile236Leu) c.424+1150A>C c.484A>C (p.Ile162Leu) c.*561A>C (n.*561A>C) | |
X | g.48905243C>A | CA412895479 | SLC35A2 | c.666G>T (p.Lys222Asn) c.355-351G>T (n.355-351G>T) c.427-351G>T (n.427-351G>T) c.228G>T c.450G>T (p.Lys150Asn) c.750G>T (p.Lys250Asn) c.705G>T (p.Lys235Asn) c.424+1149G>T c.483G>T (p.Lys161Asn) c.*560G>T (n.*560G>T) | |
X | g.48905243C= | CA2428428908 | SLC35A2 | c.666G= (p.Lys222=) c.355-351G= (n.355-351G=) c.427-351G= (n.427-351G=) c.228G= c.450G= (p.Lys150=) c.750G= (p.Lys250=) c.705G= (p.Lys235=) c.424+1149G= c.483G= (p.Lys161=) c.*560G= (n.*560G=) | |
X | g.48905243C>G | CA412895480 | SLC35A2 | c.666G>C (p.Lys222Asn) c.355-351G>C (n.355-351G>C) c.427-351G>C (n.427-351G>C) c.228G>C c.450G>C (p.Lys150Asn) c.750G>C (p.Lys250Asn) c.705G>C (p.Lys235Asn) c.424+1149G>C c.483G>C (p.Lys161Asn) c.*560G>C (n.*560G>C) | |
X | g.48905243C>T | CA516360145 | SLC35A2 | c.666G>A (p.Lys222=) c.355-351G>A (n.355-351G>A) c.427-351G>A (n.427-351G>A) c.228G>A c.450G>A (p.Lys150=) c.750G>A (p.Lys250=) c.705G>A (p.Lys235=) c.424+1149G>A c.483G>A (p.Lys161=) c.*560G>A (n.*560G>A) | dbSNP gnomAD v4 |
X | g.48905244T>A | CA412895481 | SLC35A2 | c.665A>T (p.Lys222Met) c.355-352A>T (n.355-352A>T) c.427-352A>T (n.427-352A>T) c.227A>T c.449A>T (p.Lys150Met) c.749A>T (p.Lys250Met) c.704A>T (p.Lys235Met) c.424+1148A>T c.482A>T (p.Lys161Met) c.*559A>T (n.*559A>T) | |
X | g.48905244T>C | CA412895482 | SLC35A2 | c.665A>G (p.Lys222Arg) c.355-352A>G (n.355-352A>G) c.427-352A>G (n.427-352A>G) c.227A>G c.449A>G (p.Lys150Arg) c.749A>G (p.Lys250Arg) c.704A>G (p.Lys235Arg) c.424+1148A>G c.482A>G (p.Lys161Arg) c.*559A>G (n.*559A>G) | |
X | g.48905244T>G | CA412895483 | SLC35A2 | c.665A>C (p.Lys222Thr) c.355-352A>C (n.355-352A>C) c.427-352A>C (n.427-352A>C) c.227A>C c.449A>C (p.Lys150Thr) c.749A>C (p.Lys250Thr) c.704A>C (p.Lys235Thr) c.424+1148A>C c.482A>C (p.Lys161Thr) c.*559A>C (n.*559A>C) | |
X | g.48905245T>A | CA412895486 | SLC35A2 | c.664A>T (p.Lys222Ter) c.355-353A>T (n.355-353A>T) c.427-353A>T (n.427-353A>T) c.226A>T c.448A>T (p.Lys150Ter) c.748A>T (p.Lys250Ter) c.703A>T (p.Lys235Ter) c.424+1147A>T c.481A>T (p.Lys161Ter) c.*558A>T (n.*558A>T) | |
X | g.48905245T>C | CA412895485 | SLC35A2 | c.664A>G (p.Lys222Glu) c.355-353A>G (n.355-353A>G) c.427-353A>G (n.427-353A>G) c.226A>G c.448A>G (p.Lys150Glu) c.748A>G (p.Lys250Glu) c.703A>G (p.Lys235Glu) c.424+1147A>G c.481A>G (p.Lys161Glu) c.*558A>G (n.*558A>G) | |
X | g.48905245T>G | CA412895484 | SLC35A2 | c.664A>C (p.Lys222Gln) c.355-353A>C (n.355-353A>C) c.427-353A>C (n.427-353A>C) c.226A>C c.448A>C (p.Lys150Gln) c.748A>C (p.Lys250Gln) c.703A>C (p.Lys235Gln) c.424+1147A>C c.481A>C (p.Lys161Gln) c.*558A>C (n.*558A>C) | |
X | g.48905246C>A | CA412895487 | SLC35A2 | c.663G>T (p.Glu221Asp) c.355-354G>T (n.355-354G>T) c.427-354G>T (n.427-354G>T) c.225G>T c.447G>T (p.Glu149Asp) c.747G>T (p.Glu249Asp) c.702G>T (p.Glu234Asp) c.424+1146G>T c.480G>T (p.Glu160Asp) c.*557G>T (n.*557G>T) | gnomAD v4 |
X | g.48905246C>G | CA412895488 | SLC35A2 | c.663G>C (p.Glu221Asp) c.355-354G>C (n.355-354G>C) c.427-354G>C (n.427-354G>C) c.225G>C c.447G>C (p.Glu149Asp) c.747G>C (p.Glu249Asp) c.702G>C (p.Glu234Asp) c.424+1146G>C c.480G>C (p.Glu160Asp) c.*557G>C (n.*557G>C) | |
X | g.48905246C>T | CA516360150 | SLC35A2 | c.663G>A (p.Glu221=) c.355-354G>A (n.355-354G>A) c.427-354G>A (n.427-354G>A) c.225G>A c.447G>A (p.Glu149=) c.747G>A (p.Glu249=) c.702G>A (p.Glu234=) c.424+1146G>A c.480G>A (p.Glu160=) c.*557G>A (n.*557G>A) | |
X | g.48905247T>A | CA412895489 | SLC35A2 | c.662A>T (p.Glu221Val) c.355-355A>T (n.355-355A>T) c.427-355A>T (n.427-355A>T) c.224A>T c.446A>T (p.Glu149Val) c.746A>T (p.Glu249Val) c.701A>T (p.Glu234Val) c.424+1145A>T c.479A>T (p.Glu160Val) c.*556A>T (n.*556A>T) | |
X | g.48905247T>C | CA412895491 | SLC35A2 | c.662A>G (p.Glu221Gly) c.355-355A>G (n.355-355A>G) c.427-355A>G (n.427-355A>G) c.224A>G c.446A>G (p.Glu149Gly) c.746A>G (p.Glu249Gly) c.701A>G (p.Glu234Gly) c.424+1145A>G c.479A>G (p.Glu160Gly) c.*556A>G (n.*556A>G) | |
X | g.48905247T>G | CA412895490 | SLC35A2 | c.662A>C (p.Glu221Ala) c.355-355A>C (n.355-355A>C) c.427-355A>C (n.427-355A>C) c.224A>C c.446A>C (p.Glu149Ala) c.746A>C (p.Glu249Ala) c.701A>C (p.Glu234Ala) c.424+1145A>C c.479A>C (p.Glu160Ala) c.*556A>C (n.*556A>C) | |
X | g.48905248C>A | CA412895492 | SLC35A2 | c.661G>T (p.Glu221Ter) c.355-356G>T (n.355-356G>T) c.427-356G>T (n.427-356G>T) c.223G>T c.445G>T (p.Glu149Ter) c.745G>T (p.Glu249Ter) c.700G>T (p.Glu234Ter) c.424+1144G>T c.478G>T (p.Glu160Ter) c.*555G>T (n.*555G>T) | dbSNP |
X | g.48905248C>G | CA412895493 | SLC35A2 | c.661G>C (p.Glu221Gln) c.355-356G>C (n.355-356G>C) c.427-356G>C (n.427-356G>C) c.223G>C c.445G>C (p.Glu149Gln) c.745G>C (p.Glu249Gln) c.700G>C (p.Glu234Gln) c.424+1144G>C c.478G>C (p.Glu160Gln) c.*555G>C (n.*555G>C) | |
X | g.48905248C>T | CA412895494 | SLC35A2 | c.661G>A (p.Glu221Lys) c.355-356G>A (n.355-356G>A) c.427-356G>A (n.427-356G>A) c.223G>A c.445G>A (p.Glu149Lys) c.745G>A (p.Glu249Lys) c.700G>A (p.Glu234Lys) c.424+1144G>A c.478G>A (p.Glu160Lys) c.*555G>A (n.*555G>A) | |
X | g.48905249A>C | CA412895495 | SLC35A2 | c.660T>G (p.Phe220Leu) c.355-357T>G (n.355-357T>G) c.427-357T>G (n.427-357T>G) c.222T>G c.444T>G (p.Phe148Leu) c.744T>G (p.Phe248Leu) c.699T>G (p.Phe233Leu) c.424+1143T>G c.477T>G (p.Phe159Leu) c.*554T>G (n.*554T>G) | |
X | g.48905249A>G | CA516360153 | SLC35A2 | c.660T>C (p.Phe220=) c.355-357T>C (n.355-357T>C) c.427-357T>C (n.427-357T>C) c.222T>C c.444T>C (p.Phe148=) c.744T>C (p.Phe248=) c.699T>C (p.Phe233=) c.424+1143T>C c.477T>C (p.Phe159=) c.*554T>C (n.*554T>C) | ClinVar |
X | g.48905249A>T | CA412895496 | SLC35A2 | c.660T>A (p.Phe220Leu) c.355-357T>A (n.355-357T>A) c.427-357T>A (n.427-357T>A) c.222T>A c.444T>A (p.Phe148Leu) c.744T>A (p.Phe248Leu) c.699T>A (p.Phe233Leu) c.424+1143T>A c.477T>A (p.Phe159Leu) c.*554T>A (n.*554T>A) | |
X | g.48905250_48905254del | CA2499226749 | SLC35A2 | c.656_660del (p.Tyr219Ter) c.355-361_355-357del (n.355-361_355-357del) c.427-361_427-357del (n.427-361_427-357del) c.218_222del c.440_444del (p.Tyr147Ter) c.740_744del (p.Tyr247Ter) c.695_699del (p.Tyr232Ter) c.424+1139_424+1143del c.473_477del (p.Tyr158Ter) c.*550_*554del (n.*550_*554del) | ClinVar dbSNP |
X | g.48905250A>C | CA412895497 | SLC35A2 | c.659T>G (p.Phe220Cys) c.355-358T>G (n.355-358T>G) c.427-358T>G (n.427-358T>G) c.221T>G c.443T>G (p.Phe148Cys) c.743T>G (p.Phe248Cys) c.698T>G (p.Phe233Cys) c.424+1142T>G c.476T>G (p.Phe159Cys) c.*553T>G (n.*553T>G) | |
X | g.48905250A>G | CA412895498 | SLC35A2 | c.659T>C (p.Phe220Ser) c.355-358T>C (n.355-358T>C) c.427-358T>C (n.427-358T>C) c.221T>C c.443T>C (p.Phe148Ser) c.743T>C (p.Phe248Ser) c.698T>C (p.Phe233Ser) c.424+1142T>C c.476T>C (p.Phe159Ser) c.*553T>C (n.*553T>C) | |
X | g.48905250A>T | CA412895499 | SLC35A2 | c.659T>A (p.Phe220Tyr) c.355-358T>A (n.355-358T>A) c.427-358T>A (n.427-358T>A) c.221T>A c.443T>A (p.Phe148Tyr) c.743T>A (p.Phe248Tyr) c.698T>A (p.Phe233Tyr) c.424+1142T>A c.476T>A (p.Phe159Tyr) c.*553T>A (n.*553T>A) | |
X | g.48905251A>C | CA412895500 | SLC35A2 | c.658T>G (p.Phe220Val) c.355-359T>G (n.355-359T>G) c.427-359T>G (n.427-359T>G) c.220T>G c.442T>G (p.Phe148Val) c.742T>G (p.Phe248Val) c.697T>G (p.Phe233Val) c.424+1141T>G c.475T>G (p.Phe159Val) c.*552T>G (n.*552T>G) | |
X | g.48905251A>G | CA412895501 | SLC35A2 | c.658T>C (p.Phe220Leu) c.355-359T>C (n.355-359T>C) c.427-359T>C (n.427-359T>C) c.220T>C c.442T>C (p.Phe148Leu) c.742T>C (p.Phe248Leu) c.697T>C (p.Phe233Leu) c.424+1141T>C c.475T>C (p.Phe159Leu) c.*552T>C (n.*552T>C) | |
X | g.48905251A>T | CA412895502 | SLC35A2 | c.658T>A (p.Phe220Ile) c.355-359T>A (n.355-359T>A) c.427-359T>A (n.427-359T>A) c.220T>A c.442T>A (p.Phe148Ile) c.742T>A (p.Phe248Ile) c.697T>A (p.Phe233Ile) c.424+1141T>A c.475T>A (p.Phe159Ile) c.*552T>A (n.*552T>A) | |
X | g.48905252G>A | CA516360155 | SLC35A2 | c.657C>T (p.Tyr219=) c.355-360C>T (n.355-360C>T) c.427-360C>T (n.427-360C>T) c.219C>T c.441C>T (p.Tyr147=) c.741C>T (p.Tyr247=) c.696C>T (p.Tyr232=) c.424+1140C>T c.474C>T (p.Tyr158=) c.*551C>T (n.*551C>T) | gnomAD v4 |
X | g.48905252G>C | CA412895503 | SLC35A2 | c.657C>G (p.Tyr219Ter) c.355-360C>G (n.355-360C>G) c.427-360C>G (n.427-360C>G) c.219C>G c.441C>G (p.Tyr147Ter) c.741C>G (p.Tyr247Ter) c.696C>G (p.Tyr232Ter) c.424+1140C>G c.474C>G (p.Tyr158Ter) c.*551C>G (n.*551C>G) | |
X | g.48905252G>T | CA412895504 | SLC35A2 | c.657C>A (p.Tyr219Ter) c.355-360C>A (n.355-360C>A) c.427-360C>A (n.427-360C>A) c.219C>A c.441C>A (p.Tyr147Ter) c.741C>A (p.Tyr247Ter) c.696C>A (p.Tyr232Ter) c.424+1140C>A c.474C>A (p.Tyr158Ter) c.*551C>A (n.*551C>A) | gnomAD v4 |
X | g.48905253T>A | CA412895505 | SLC35A2 | c.656A>T (p.Tyr219Phe) c.355-361A>T (n.355-361A>T) c.427-361A>T (n.427-361A>T) c.218A>T c.440A>T (p.Tyr147Phe) c.740A>T (p.Tyr247Phe) c.695A>T (p.Tyr232Phe) c.424+1139A>T c.473A>T (p.Tyr158Phe) c.*550A>T (n.*550A>T) | |
X | g.48905253T>C | CA412895507 | SLC35A2 | c.656A>G (p.Tyr219Cys) c.355-361A>G (n.355-361A>G) c.427-361A>G (n.427-361A>G) c.218A>G c.440A>G (p.Tyr147Cys) c.740A>G (p.Tyr247Cys) c.695A>G (p.Tyr232Cys) c.424+1139A>G c.473A>G (p.Tyr158Cys) c.*550A>G (n.*550A>G) | |
X | g.48905253T>G | CA412895506 | SLC35A2 | c.656A>C (p.Tyr219Ser) c.355-361A>C (n.355-361A>C) c.427-361A>C (n.427-361A>C) c.218A>C c.440A>C (p.Tyr147Ser) c.740A>C (p.Tyr247Ser) c.695A>C (p.Tyr232Ser) c.424+1139A>C c.473A>C (p.Tyr158Ser) c.*550A>C (n.*550A>C) | |
X | g.48905254A>C | CA412895508 | SLC35A2 | c.655T>G (p.Tyr219Asp) c.355-362T>G (n.355-362T>G) c.427-362T>G (n.427-362T>G) c.217T>G c.439T>G (p.Tyr147Asp) c.739T>G (p.Tyr247Asp) c.694T>G (p.Tyr232Asp) c.424+1138T>G c.472T>G (p.Tyr158Asp) c.*549T>G (n.*549T>G) | |
X | g.48905254A>G | CA412895509 | SLC35A2 | c.655T>C (p.Tyr219His) c.355-362T>C (n.355-362T>C) c.427-362T>C (n.427-362T>C) c.217T>C c.439T>C (p.Tyr147His) c.739T>C (p.Tyr247His) c.694T>C (p.Tyr232His) c.424+1138T>C c.472T>C (p.Tyr158His) c.*549T>C (n.*549T>C) | |
X | g.48905254A>T | CA412895510 | SLC35A2 | c.655T>A (p.Tyr219Asn) c.355-362T>A (n.355-362T>A) c.427-362T>A (n.427-362T>A) c.217T>A c.439T>A (p.Tyr147Asn) c.739T>A (p.Tyr247Asn) c.694T>A (p.Tyr232Asn) c.424+1138T>A c.472T>A (p.Tyr158Asn) c.*549T>A (n.*549T>A) | |
X | g.48905255G>A | CA516360159 | SLC35A2 | c.654C>T (p.Val218=) c.355-363C>T (n.355-363C>T) c.427-363C>T (n.427-363C>T) c.216C>T c.438C>T (p.Val146=) c.738C>T (p.Val246=) c.693C>T (p.Val231=) c.424+1137C>T c.471C>T (p.Val157=) c.*548C>T (n.*548C>T) | |
X | g.48905255G>C | CA516360160 | SLC35A2 | c.654C>G (p.Val218=) c.355-363C>G (n.355-363C>G) c.427-363C>G (n.427-363C>G) c.216C>G c.438C>G (p.Val146=) c.738C>G (p.Val246=) c.693C>G (p.Val231=) c.424+1137C>G c.471C>G (p.Val157=) c.*548C>G (n.*548C>G) | |
X | g.48905255G>T | CA516360161 | SLC35A2 | c.654C>A (p.Val218=) c.355-363C>A (n.355-363C>A) c.427-363C>A (n.427-363C>A) c.216C>A c.438C>A (p.Val146=) c.738C>A (p.Val246=) c.693C>A (p.Val231=) c.424+1137C>A c.471C>A (p.Val157=) c.*548C>A (n.*548C>A) | |
X | g.48905256A>C | CA412895511 | SLC35A2 | c.653T>G (p.Val218Gly) c.355-364T>G (n.355-364T>G) c.427-364T>G (n.427-364T>G) c.215T>G c.437T>G (p.Val146Gly) c.737T>G (p.Val246Gly) c.692T>G (p.Val231Gly) c.424+1136T>G c.470T>G (p.Val157Gly) c.*547T>G (n.*547T>G) | |
X | g.48905256A>G | CA412895512 | SLC35A2 | c.653T>C (p.Val218Ala) c.355-364T>C (n.355-364T>C) c.427-364T>C (n.427-364T>C) c.215T>C c.437T>C (p.Val146Ala) c.737T>C (p.Val246Ala) c.692T>C (p.Val231Ala) c.424+1136T>C c.470T>C (p.Val157Ala) c.*547T>C (n.*547T>C) | |
X | g.48905256A>T | CA412895513 | SLC35A2 | c.653T>A (p.Val218Asp) c.355-364T>A (n.355-364T>A) c.427-364T>A (n.427-364T>A) c.215T>A c.437T>A (p.Val146Asp) c.737T>A (p.Val246Asp) c.692T>A (p.Val231Asp) c.424+1136T>A c.470T>A (p.Val157Asp) c.*547T>A (n.*547T>A) | |
X | g.48905257C>A | CA412895514 | SLC35A2 | c.652G>T (p.Val218Phe) c.355-365G>T (n.355-365G>T) c.427-365G>T (n.427-365G>T) c.214G>T c.436G>T (p.Val146Phe) c.736G>T (p.Val246Phe) c.691G>T (p.Val231Phe) c.424+1135G>T c.469G>T (p.Val157Phe) c.*546G>T (n.*546G>T) | |
X | g.48905257C>G | CA412895515 | SLC35A2 | c.652G>C (p.Val218Leu) c.355-365G>C (n.355-365G>C) c.427-365G>C (n.427-365G>C) c.214G>C c.436G>C (p.Val146Leu) c.736G>C (p.Val246Leu) c.691G>C (p.Val231Leu) c.424+1135G>C c.469G>C (p.Val157Leu) c.*546G>C (n.*546G>C) | |
X | g.48905257C>T | CA412895516 | SLC35A2 | c.652G>A (p.Val218Ile) c.355-365G>A (n.355-365G>A) c.427-365G>A (n.427-365G>A) c.214G>A c.436G>A (p.Val146Ile) c.736G>A (p.Val246Ile) c.691G>A (p.Val231Ile) c.424+1135G>A c.469G>A (p.Val157Ile) c.*546G>A (n.*546G>A) | ClinVar gnomAD v4 |
X | g.48905258A= | CA2428428909 | SLC35A2 | c.651T= (p.Gly217=) c.355-366T= (n.355-366T=) c.427-366T= (n.427-366T=) c.213T= c.435T= (p.Gly145=) c.735T= (p.Gly245=) c.690T= (p.Gly230=) c.424+1134T= c.468T= (p.Gly156=) c.*545T= (n.*545T=) | |
X | g.48905258A>C | CA516360164 | SLC35A2 | c.651T>G (p.Gly217=) c.355-366T>G (n.355-366T>G) c.427-366T>G (n.427-366T>G) c.213T>G c.435T>G (p.Gly145=) c.735T>G (p.Gly245=) c.690T>G (p.Gly230=) c.424+1134T>G c.468T>G (p.Gly156=) c.*545T>G (n.*545T>G) | |
X | g.48905258A>G | CA329098900 | SLC35A2 | c.651T>C (p.Gly217=) c.355-366T>C (n.355-366T>C) c.427-366T>C (n.427-366T>C) c.213T>C c.435T>C (p.Gly145=) c.735T>C (p.Gly245=) c.690T>C (p.Gly230=) c.424+1134T>C c.468T>C (p.Gly156=) c.*545T>C (n.*545T>C) | dbSNP gnomAD v4 |
X | g.48905258A>T | CA516360165 | SLC35A2 | c.651T>A (p.Gly217=) c.355-366T>A (n.355-366T>A) c.427-366T>A (n.427-366T>A) c.213T>A c.435T>A (p.Gly145=) c.735T>A (p.Gly245=) c.690T>A (p.Gly230=) c.424+1134T>A c.468T>A (p.Gly156=) c.*545T>A (n.*545T>A) | |
X | g.48905259C>A | CA412895519 | SLC35A2 | c.650G>T (p.Gly217Val) c.355-367G>T (n.355-367G>T) c.427-367G>T (n.427-367G>T) c.212G>T c.434G>T (p.Gly145Val) c.734G>T (p.Gly245Val) c.689G>T (p.Gly230Val) c.424+1133G>T c.467G>T (p.Gly156Val) c.*544G>T (n.*544G>T) | |
X | g.48905259C>G | CA412895518 | SLC35A2 | c.650G>C (p.Gly217Ala) c.355-367G>C (n.355-367G>C) c.427-367G>C (n.427-367G>C) c.212G>C c.434G>C (p.Gly145Ala) c.734G>C (p.Gly245Ala) c.689G>C (p.Gly230Ala) c.424+1133G>C c.467G>C (p.Gly156Ala) c.*544G>C (n.*544G>C) | |
X | g.48905259C>T | CA412895517 | SLC35A2 | c.650G>A (p.Gly217Asp) c.355-367G>A (n.355-367G>A) c.427-367G>A (n.427-367G>A) c.212G>A c.434G>A (p.Gly145Asp) c.734G>A (p.Gly245Asp) c.689G>A (p.Gly230Asp) c.424+1133G>A c.467G>A (p.Gly156Asp) c.*544G>A (n.*544G>A) | |
X | g.48905260C>A | CA412895520 | SLC35A2 | c.649G>T (p.Gly217Cys) c.355-368G>T (n.355-368G>T) c.427-368G>T (n.427-368G>T) c.212-1G>T c.433G>T (p.Gly145Cys) c.733G>T (p.Gly245Cys) c.688G>T (p.Gly230Cys) c.424+1132G>T c.466G>T (p.Gly156Cys) c.*543G>T (n.*543G>T) | |
X | g.48905260C>G | CA412895521 | SLC35A2 | c.649G>C (p.Gly217Arg) c.355-368G>C (n.355-368G>C) c.427-368G>C (n.427-368G>C) c.212-1G>C c.433G>C (p.Gly145Arg) c.733G>C (p.Gly245Arg) c.688G>C (p.Gly230Arg) c.424+1132G>C c.466G>C (p.Gly156Arg) c.*543G>C (n.*543G>C) | dbSNP |
X | g.48905260C>T | CA412895522 | SLC35A2 | c.649G>A (p.Gly217Ser) c.355-368G>A (n.355-368G>A) c.427-368G>A (n.427-368G>A) c.212-1G>A c.433G>A (p.Gly145Ser) c.733G>A (p.Gly245Ser) c.688G>A (p.Gly230Ser) c.424+1132G>A c.466G>A (p.Gly156Ser) c.*543G>A (n.*543G>A) | |
X | g.48905261T>A | CA516360167 | SLC35A2 | c.648A>T (p.Ala216=) c.355-369A>T (n.355-369A>T) c.427-369A>T (n.427-369A>T) c.212-2A>T c.432A>T (p.Ala144=) c.732A>T (p.Ala244=) c.687A>T (p.Ala229=) c.424+1131A>T c.465A>T (p.Ala155=) c.*542A>T (n.*542A>T) | |
X | g.48905261T>C | CA516360168 | SLC35A2 | c.648A>G (p.Ala216=) c.355-369A>G (n.355-369A>G) c.427-369A>G (n.427-369A>G) c.212-2A>G c.432A>G (p.Ala144=) c.732A>G (p.Ala244=) c.687A>G (p.Ala229=) c.424+1131A>G c.465A>G (p.Ala155=) c.*542A>G (n.*542A>G) | gnomAD v4 |
X | g.48905261T>G | CA516360170 | SLC35A2 | c.648A>C (p.Ala216=) c.355-369A>C (n.355-369A>C) c.427-369A>C (n.427-369A>C) c.212-2A>C c.432A>C (p.Ala144=) c.732A>C (p.Ala244=) c.687A>C (p.Ala229=) c.424+1131A>C c.465A>C (p.Ala155=) c.*542A>C (n.*542A>C) | |
X | g.48905262G>A | CA412895523 | SLC35A2 | c.647C>T (p.Ala216Val) c.355-370C>T (n.355-370C>T) c.427-370C>T (n.427-370C>T) c.212-3C>T c.431C>T (p.Ala144Val) c.731C>T (p.Ala244Val) c.686C>T (p.Ala229Val) c.424+1130C>T c.464C>T (p.Ala155Val) c.*541C>T (n.*541C>T) | gnomAD v4 |
X | g.48905262G>C | CA412895524 | SLC35A2 | c.647C>G (p.Ala216Gly) c.355-370C>G (n.355-370C>G) c.427-370C>G (n.427-370C>G) c.212-3C>G c.431C>G (p.Ala144Gly) c.731C>G (p.Ala244Gly) c.686C>G (p.Ala229Gly) c.424+1130C>G c.464C>G (p.Ala155Gly) c.*541C>G (n.*541C>G) | |
X | g.48905262G>T | CA412895525 | SLC35A2 | c.647C>A (p.Ala216Glu) c.355-370C>A (n.355-370C>A) c.427-370C>A (n.427-370C>A) c.212-3C>A c.431C>A (p.Ala144Glu) c.731C>A (p.Ala244Glu) c.686C>A (p.Ala229Glu) c.424+1130C>A c.464C>A (p.Ala155Glu) c.*541C>A (n.*541C>A) | |
X | g.48905263C>A | CA412895528 | SLC35A2 | c.646G>T (p.Ala216Ser) c.355-371G>T (n.355-371G>T) c.427-371G>T (n.427-371G>T) c.212-4G>T c.430G>T (p.Ala144Ser) c.730G>T (p.Ala244Ser) c.685G>T (p.Ala229Ser) c.424+1129G>T c.463G>T (p.Ala155Ser) c.*540G>T (n.*540G>T) | COSMIC COSMIC |
X | g.48905263C= | CA2428428910 | SLC35A2 | c.646G= (p.Ala216=) c.355-371G= (n.355-371G=) c.427-371G= (n.427-371G=) c.212-4G= c.430G= (p.Ala144=) c.730G= (p.Ala244=) c.685G= (p.Ala229=) c.424+1129G= c.463G= (p.Ala155=) c.*540G= (n.*540G=) | |
X | g.48905263C>G | CA412895526 | SLC35A2 | c.646G>C (p.Ala216Pro) c.355-371G>C (n.355-371G>C) c.427-371G>C (n.427-371G>C) c.212-4G>C c.430G>C (p.Ala144Pro) c.730G>C (p.Ala244Pro) c.685G>C (p.Ala229Pro) c.424+1129G>C c.463G>C (p.Ala155Pro) c.*540G>C (n.*540G>C) | |
X | g.48905263C>T | CA412895527 | SLC35A2 | c.646G>A (p.Ala216Thr) c.355-371G>A (n.355-371G>A) c.427-371G>A (n.427-371G>A) c.212-4G>A c.430G>A (p.Ala144Thr) c.730G>A (p.Ala244Thr) c.685G>A (p.Ala229Thr) c.424+1129G>A c.463G>A (p.Ala155Thr) c.*540G>A (n.*540G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.48905264G>A | CA516360174 | SLC35A2 | c.645C>T (p.Phe215=) c.355-372C>T (n.355-372C>T) c.427-372C>T (n.427-372C>T) c.212-5C>T c.429C>T (p.Phe143=) c.729C>T (p.Phe243=) c.684C>T (p.Phe228=) c.424+1128C>T c.462C>T (p.Phe154=) c.*539C>T (n.*539C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905264G>C | CA412895529 | SLC35A2 | c.645C>G (p.Phe215Leu) c.355-372C>G (n.355-372C>G) c.427-372C>G (n.427-372C>G) c.212-5C>G c.429C>G (p.Phe143Leu) c.729C>G (p.Phe243Leu) c.684C>G (p.Phe228Leu) c.424+1128C>G c.462C>G (p.Phe154Leu) c.*539C>G (n.*539C>G) | |
X | g.48905264G= | CA2428428911 | SLC35A2 | c.645C= (p.Phe215=) c.355-372C= (n.355-372C=) c.427-372C= (n.427-372C=) c.212-5C= c.429C= (p.Phe143=) c.729C= (p.Phe243=) c.684C= (p.Phe228=) c.424+1128C= c.462C= (p.Phe154=) c.*539C= (n.*539C=) | |
X | g.48905264G>T | CA412895530 | SLC35A2 | c.645C>A (p.Phe215Leu) c.355-372C>A (n.355-372C>A) c.427-372C>A (n.427-372C>A) c.212-5C>A c.429C>A (p.Phe143Leu) c.729C>A (p.Phe243Leu) c.684C>A (p.Phe228Leu) c.424+1128C>A c.462C>A (p.Phe154Leu) c.*539C>A (n.*539C>A) | |
X | g.48905265A>C | CA412895531 | SLC35A2 | c.644T>G (p.Phe215Cys) c.355-373T>G (n.355-373T>G) c.427-373T>G (n.427-373T>G) c.212-6T>G c.428T>G (p.Phe143Cys) c.728T>G (p.Phe243Cys) c.683T>G (p.Phe228Cys) c.424+1127T>G c.461T>G (p.Phe154Cys) c.*538T>G (n.*538T>G) | |
X | g.48905265A>G | CA412895532 | SLC35A2 | c.644T>C (p.Phe215Ser) c.355-373T>C (n.355-373T>C) c.427-373T>C (n.427-373T>C) c.212-6T>C c.428T>C (p.Phe143Ser) c.728T>C (p.Phe243Ser) c.683T>C (p.Phe228Ser) c.424+1127T>C c.461T>C (p.Phe154Ser) c.*538T>C (n.*538T>C) | |
X | g.48905265A>T | CA412895533 | SLC35A2 | c.644T>A (p.Phe215Tyr) c.355-373T>A (n.355-373T>A) c.427-373T>A (n.427-373T>A) c.212-6T>A c.428T>A (p.Phe143Tyr) c.728T>A (p.Phe243Tyr) c.683T>A (p.Phe228Tyr) c.424+1127T>A c.461T>A (p.Phe154Tyr) c.*538T>A (n.*538T>A) | |
X | g.48905266A>C | CA412895534 | SLC35A2 | c.643T>G (p.Phe215Val) c.355-374T>G (n.355-374T>G) c.427-374T>G (n.427-374T>G) c.212-7T>G c.427T>G (p.Phe143Val) c.727T>G (p.Phe243Val) c.682T>G (p.Phe228Val) c.424+1126T>G c.460T>G (p.Phe154Val) c.*537T>G (n.*537T>G) | |
X | g.48905266A>G | CA412895536 | SLC35A2 | c.643T>C (p.Phe215Leu) c.355-374T>C (n.355-374T>C) c.427-374T>C (n.427-374T>C) c.212-7T>C c.427T>C (p.Phe143Leu) c.727T>C (p.Phe243Leu) c.682T>C (p.Phe228Leu) c.424+1126T>C c.460T>C (p.Phe154Leu) c.*537T>C (n.*537T>C) | |
X | g.48905266A>T | CA412895535 | SLC35A2 | c.643T>A (p.Phe215Ile) c.355-374T>A (n.355-374T>A) c.427-374T>A (n.427-374T>A) c.212-7T>A c.427T>A (p.Phe143Ile) c.727T>A (p.Phe243Ile) c.682T>A (p.Phe228Ile) c.424+1126T>A c.460T>A (p.Phe154Ile) c.*537T>A (n.*537T>A) | |
X | g.48905267G>A | CA516360177 | SLC35A2 | c.642C>T (p.Gly214=) c.355-375C>T (n.355-375C>T) c.427-375C>T (n.427-375C>T) c.212-8C>T c.426C>T (p.Gly142=) c.726C>T (p.Gly242=) c.681C>T (p.Gly227=) c.424+1125C>T c.459C>T (p.Gly153=) c.*536C>T (n.*536C>T) | |
X | g.48905267G>C | CA516360178 | SLC35A2 | c.642C>G (p.Gly214=) c.355-375C>G (n.355-375C>G) c.427-375C>G (n.427-375C>G) c.212-8C>G c.426C>G (p.Gly142=) c.726C>G (p.Gly242=) c.681C>G (p.Gly227=) c.424+1125C>G c.459C>G (p.Gly153=) c.*536C>G (n.*536C>G) | |
X | g.48905267G>T | CA516360179 | SLC35A2 | c.642C>A (p.Gly214=) c.355-375C>A (n.355-375C>A) c.427-375C>A (n.427-375C>A) c.212-8C>A c.426C>A (p.Gly142=) c.726C>A (p.Gly242=) c.681C>A (p.Gly227=) c.424+1125C>A c.459C>A (p.Gly153=) c.*536C>A (n.*536C>A) | gnomAD v4 |
X | g.48905268C>A | CA412895537 | SLC35A2 | c.641G>T (p.Gly214Val) c.355-376G>T (n.355-376G>T) c.427-376G>T (n.427-376G>T) c.212-9G>T c.425G>T (p.Gly142Val) c.725G>T (p.Gly242Val) c.680G>T (p.Gly227Val) c.424+1124G>T c.458G>T (p.Gly153Val) c.*535G>T (n.*535G>T) | gnomAD v4 |
X | g.48905268C>G | CA412895538 | SLC35A2 | c.641G>C (p.Gly214Ala) c.355-376G>C (n.355-376G>C) c.427-376G>C (n.427-376G>C) c.212-9G>C c.425G>C (p.Gly142Ala) c.725G>C (p.Gly242Ala) c.680G>C (p.Gly227Ala) c.424+1124G>C c.458G>C (p.Gly153Ala) c.*535G>C (n.*535G>C) | |
X | g.48905268C>T | CA412895539 | SLC35A2 | c.641G>A (p.Gly214Asp) c.355-376G>A (n.355-376G>A) c.427-376G>A (n.427-376G>A) c.212-9G>A c.425G>A (p.Gly142Asp) c.725G>A (p.Gly242Asp) c.680G>A (p.Gly227Asp) c.424+1124G>A c.458G>A (p.Gly153Asp) c.*535G>A (n.*535G>A) | |
X | g.48905269C>A | CA412895540 | SLC35A2 | c.640G>T (p.Gly214Cys) c.355-377G>T (n.355-377G>T) c.427-377G>T (n.427-377G>T) c.212-10G>T c.424G>T (p.Gly142Cys) c.724G>T (p.Gly242Cys) c.679G>T (p.Gly227Cys) c.424+1123G>T c.457G>T (p.Gly153Cys) c.*534G>T (n.*534G>T) | |
X | g.48905269C>G | CA412895541 | SLC35A2 | c.640G>C (p.Gly214Arg) c.355-377G>C (n.355-377G>C) c.427-377G>C (n.427-377G>C) c.212-10G>C c.424G>C (p.Gly142Arg) c.724G>C (p.Gly242Arg) c.679G>C (p.Gly227Arg) c.424+1123G>C c.457G>C (p.Gly153Arg) c.*534G>C (n.*534G>C) | |
X | g.48905269C>T | CA412895542 | SLC35A2 | c.640G>A (p.Gly214Ser) c.355-377G>A (n.355-377G>A) c.427-377G>A (n.427-377G>A) c.212-10G>A c.424G>A (p.Gly142Ser) c.724G>A (p.Gly242Ser) c.679G>A (p.Gly227Ser) c.424+1123G>A c.457G>A (p.Gly153Ser) c.*534G>A (n.*534G>A) | gnomAD v4 |
X | g.48905269_48905272delinsCGGA | CA2428428912 | SLC35A2 | c.637_640delinsTCCG (p.Ser213=) c.355-380_355-377delinsTCCG (n.355-380_355-377delinsTCCG) c.427-380_427-377delinsTCCG (n.427-380_427-377delinsTCCG) c.212-13_212-10delinsTCCG c.421_424delinsTCCG (p.Ser141=) c.721_724delinsTCCG (p.Ser241=) c.676_679delinsTCCG (p.Ser226=) c.424+1120_424+1123delinsTCCG c.454_457delinsTCCG (p.Ser152=) c.*531_*534delinsTCCG (n.*531_*534delinsTCCG) | |
X | g.48905270G>A | CA10406107 | SLC35A2 | c.639C>T (p.Ser213=) c.355-378C>T (n.355-378C>T) c.427-378C>T (n.427-378C>T) c.212-11C>T c.423C>T (p.Ser141=) c.723C>T (p.Ser241=) c.678C>T (p.Ser226=) c.424+1122C>T c.456C>T (p.Ser152=) c.*533C>T (n.*533C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905270G>C | CA516360184 | SLC35A2 | c.639C>G (p.Ser213=) c.355-378C>G (n.355-378C>G) c.427-378C>G (n.427-378C>G) c.212-11C>G c.423C>G (p.Ser141=) c.723C>G (p.Ser241=) c.678C>G (p.Ser226=) c.424+1122C>G c.456C>G (p.Ser152=) c.*533C>G (n.*533C>G) | |
X | g.48905270G= | CA2428428913 | SLC35A2 | c.639C= (p.Ser213=) c.355-378C= (n.355-378C=) c.427-378C= (n.427-378C=) c.212-11C= c.423C= (p.Ser141=) c.723C= (p.Ser241=) c.678C= (p.Ser226=) c.424+1122C= c.456C= (p.Ser152=) c.*533C= (n.*533C=) | |
X | g.48905270G>T | CA516360186 | SLC35A2 | c.639C>A (p.Ser213=) c.355-378C>A (n.355-378C>A) c.427-378C>A (n.427-378C>A) c.212-11C>A c.423C>A (p.Ser141=) c.723C>A (p.Ser241=) c.678C>A (p.Ser226=) c.424+1122C>A c.456C>A (p.Ser152=) c.*533C>A (n.*533C>A) | |
X | g.48905274_48905276del | CA16043321 | SLC35A2 | c.637_639del (p.Ser213del) c.355-380_355-378del (n.355-380_355-378del) c.427-380_427-378del (n.427-380_427-378del) c.212-13_212-11del c.421_423del (p.Ser141del) c.721_723del (p.Ser241del) c.676_678del (p.Ser226del) c.424+1120_424+1122del c.454_456del (p.Ser152del) c.*531_*533del (n.*531_*533del) | ClinVar dbSNP |
X | g.48905271G>A | CA163127 | SLC35A2 | c.638C>T (p.Ser213Phe) c.355-379C>T (n.355-379C>T) c.427-379C>T (n.427-379C>T) c.212-12C>T c.422C>T (p.Ser141Phe) c.722C>T (p.Ser241Phe) c.677C>T (p.Ser226Phe) c.424+1121C>T c.455C>T (p.Ser152Phe) c.*532C>T (n.*532C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48905271G>C | CA412895543 | SLC35A2 | c.638C>G (p.Ser213Cys) c.355-379C>G (n.355-379C>G) c.427-379C>G (n.427-379C>G) c.212-12C>G c.422C>G (p.Ser141Cys) c.722C>G (p.Ser241Cys) c.677C>G (p.Ser226Cys) c.424+1121C>G c.455C>G (p.Ser152Cys) c.*532C>G (n.*532C>G) | |
X | g.48905271G= | CA2428428914 | SLC35A2 | c.638C= (p.Ser213=) c.355-379C= (n.355-379C=) c.427-379C= (n.427-379C=) c.212-12C= c.422C= (p.Ser141=) c.722C= (p.Ser241=) c.677C= (p.Ser226=) c.424+1121C= c.455C= (p.Ser152=) c.*532C= (n.*532C=) | |
X | g.48905271G>T | CA412895544 | SLC35A2 | c.638C>A (p.Ser213Tyr) c.355-379C>A (n.355-379C>A) c.427-379C>A (n.427-379C>A) c.212-12C>A c.422C>A (p.Ser141Tyr) c.722C>A (p.Ser241Tyr) c.677C>A (p.Ser226Tyr) c.424+1121C>A c.455C>A (p.Ser152Tyr) c.*532C>A (n.*532C>A) | gnomAD v4 |
X | g.48905272A>C | CA412895546 | SLC35A2 | c.637T>G (p.Ser213Ala) c.355-380T>G (n.355-380T>G) c.427-380T>G (n.427-380T>G) c.212-13T>G c.421T>G (p.Ser141Ala) c.721T>G (p.Ser241Ala) c.676T>G (p.Ser226Ala) c.424+1120T>G c.454T>G (p.Ser152Ala) c.*531T>G (n.*531T>G) | |
X | g.48905272A>G | CA412895547 | SLC35A2 | c.637T>C (p.Ser213Pro) c.355-380T>C (n.355-380T>C) c.427-380T>C (n.427-380T>C) c.212-13T>C c.421T>C (p.Ser141Pro) c.721T>C (p.Ser241Pro) c.676T>C (p.Ser226Pro) c.424+1120T>C c.454T>C (p.Ser152Pro) c.*531T>C (n.*531T>C) | |
X | g.48905272A>T | CA412895545 | SLC35A2 | c.637T>A (p.Ser213Thr) c.355-380T>A (n.355-380T>A) c.427-380T>A (n.427-380T>A) c.212-13T>A c.421T>A (p.Ser141Thr) c.721T>A (p.Ser241Thr) c.676T>A (p.Ser226Thr) c.424+1120T>A c.454T>A (p.Ser152Thr) c.*531T>A (n.*531T>A) | |
X | g.48905273G>A | CA516360188 | SLC35A2 | c.636C>T (p.Ser212=) c.355-381C>T (n.355-381C>T) c.427-381C>T (n.427-381C>T) c.212-14C>T c.420C>T (p.Ser140=) c.720C>T (p.Ser240=) c.675C>T (p.Ser225=) c.424+1119C>T c.453C>T (p.Ser151=) c.*530C>T (n.*530C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905273G>C | CA516360189 | SLC35A2 | c.636C>G (p.Ser212=) c.355-381C>G (n.355-381C>G) c.427-381C>G (n.427-381C>G) c.212-14C>G c.420C>G (p.Ser140=) c.720C>G (p.Ser240=) c.675C>G (p.Ser225=) c.424+1119C>G c.453C>G (p.Ser151=) c.*530C>G (n.*530C>G) | |
X | g.48905273G= | CA2428428915 | SLC35A2 | c.636C= (p.Ser212=) c.355-381C= (n.355-381C=) c.427-381C= (n.427-381C=) c.212-14C= c.420C= (p.Ser140=) c.720C= (p.Ser240=) c.675C= (p.Ser225=) c.424+1119C= c.453C= (p.Ser151=) c.*530C= (n.*530C=) | |
X | g.48905273G>T | CA516360190 | SLC35A2 | c.636C>A (p.Ser212=) c.355-381C>A (n.355-381C>A) c.427-381C>A (n.427-381C>A) c.212-14C>A c.420C>A (p.Ser140=) c.720C>A (p.Ser240=) c.675C>A (p.Ser225=) c.424+1119C>A c.453C>A (p.Ser151=) c.*530C>A (n.*530C>A) | |
X | g.48905274del | CA2579602645 | SLC35A2 | c.636del (p.Ser213ProfsTer?) c.355-381del (n.355-381del) c.427-381del (n.427-381del) c.212-14del c.420del (p.Ser141ProfsTer?) c.720del (p.Ser241ProfsTer?) c.675del (p.Ser226ProfsTer?) c.424+1119del c.453del (p.Ser152ProfsTer?) c.*530del (n.*530del) | |
X | g.48905273_48905275delinsGGA | CA2428428916 | SLC35A2 | c.634_636delinsTCC (p.Ser212=) c.355-383_355-381delinsTCC (n.355-383_355-381delinsTCC) c.427-383_427-381delinsTCC (n.427-383_427-381delinsTCC) c.212-16_212-14delinsTCC c.418_420delinsTCC (p.Ser140=) c.718_720delinsTCC (p.Ser240=) c.673_675delinsTCC (p.Ser225=) c.424+1117_424+1119delinsTCC c.451_453delinsTCC (p.Ser151=) c.*528_*530delinsTCC (n.*528_*530delinsTCC) | |
X | g.48905274G>A | CA412895550 | SLC35A2 | c.635C>T (p.Ser212Phe) c.355-382C>T (n.355-382C>T) c.427-382C>T (n.427-382C>T) c.212-15C>T c.419C>T (p.Ser140Phe) c.719C>T (p.Ser240Phe) c.674C>T (p.Ser225Phe) c.424+1118C>T c.452C>T (p.Ser151Phe) c.*529C>T (n.*529C>T) | |
X | g.48905274G>C | CA412895548 | SLC35A2 | c.635C>G (p.Ser212Cys) c.355-382C>G (n.355-382C>G) c.427-382C>G (n.427-382C>G) c.212-15C>G c.419C>G (p.Ser140Cys) c.719C>G (p.Ser240Cys) c.674C>G (p.Ser225Cys) c.424+1118C>G c.452C>G (p.Ser151Cys) c.*529C>G (n.*529C>G) | |
X | g.48905274G>T | CA412895549 | SLC35A2 | c.635C>A (p.Ser212Tyr) c.355-382C>A (n.355-382C>A) c.427-382C>A (n.427-382C>A) c.212-15C>A c.419C>A (p.Ser140Tyr) c.719C>A (p.Ser240Tyr) c.674C>A (p.Ser225Tyr) c.424+1118C>A c.452C>A (p.Ser151Tyr) c.*529C>A (n.*529C>A) | |
X | g.48905278_48905279del | CA913190356 | SLC35A2 | c.634_635del (p.Ser212LeufsTer9) c.355-383_355-382del (n.355-383_355-382del) c.427-383_427-382del (n.427-383_427-382del) c.212-16_212-15del c.418_419del (p.Ser140LeufsTer9) c.718_719del (p.Ser240LeufsTer9) c.673_674del (p.Ser225LeufsTer9) c.424+1117_424+1118del c.451_452del (p.Ser151LeufsTer9) c.*528_*529del (n.*528_*529del) | ClinVar dbSNP |
X | g.48905275A>C | CA412895551 | SLC35A2 | c.634T>G (p.Ser212Ala) c.355-383T>G (n.355-383T>G) c.427-383T>G (n.427-383T>G) c.212-16T>G c.418T>G (p.Ser140Ala) c.718T>G (p.Ser240Ala) c.673T>G (p.Ser225Ala) c.424+1117T>G c.451T>G (p.Ser151Ala) c.*528T>G (n.*528T>G) | |
X | g.48905275A>G | CA412895552 | SLC35A2 | c.634T>C (p.Ser212Pro) c.355-383T>C (n.355-383T>C) c.427-383T>C (n.427-383T>C) c.212-16T>C c.418T>C (p.Ser140Pro) c.718T>C (p.Ser240Pro) c.673T>C (p.Ser225Pro) c.424+1117T>C c.451T>C (p.Ser151Pro) c.*528T>C (n.*528T>C) | |
X | g.48905275A>T | CA412895553 | SLC35A2 | c.634T>A (p.Ser212Thr) c.355-383T>A (n.355-383T>A) c.427-383T>A (n.427-383T>A) c.212-16T>A c.418T>A (p.Ser140Thr) c.718T>A (p.Ser240Thr) c.673T>A (p.Ser225Thr) c.424+1117T>A c.451T>A (p.Ser151Thr) c.*528T>A (n.*528T>A) | |
X | g.48905276G>A | CA516360194 | SLC35A2 | c.633C>T (p.Leu211=) c.355-384C>T (n.355-384C>T) c.427-384C>T (n.427-384C>T) c.212-17C>T c.417C>T (p.Leu139=) c.717C>T (p.Leu239=) c.672C>T (p.Leu224=) c.424+1116C>T c.450C>T (p.Leu150=) c.*527C>T (n.*527C>T) | |
X | g.48905276G>C | CA516360195 | SLC35A2 | c.633C>G (p.Leu211=) c.355-384C>G (n.355-384C>G) c.427-384C>G (n.427-384C>G) c.212-17C>G c.417C>G (p.Leu139=) c.717C>G (p.Leu239=) c.672C>G (p.Leu224=) c.424+1116C>G c.450C>G (p.Leu150=) c.*527C>G (n.*527C>G) | dbSNP gnomAD v4 |
X | g.48905276G= | CA2428428917 | SLC35A2 | c.633C= (p.Leu211=) c.355-384C= (n.355-384C=) c.427-384C= (n.427-384C=) c.212-17C= c.417C= (p.Leu139=) c.717C= (p.Leu239=) c.672C= (p.Leu224=) c.424+1116C= c.450C= (p.Leu150=) c.*527C= (n.*527C=) | |
X | g.48905276G>T | CA516360196 | SLC35A2 | c.633C>A (p.Leu211=) c.355-384C>A (n.355-384C>A) c.427-384C>A (n.427-384C>A) c.212-17C>A c.417C>A (p.Leu139=) c.717C>A (p.Leu239=) c.672C>A (p.Leu224=) c.424+1116C>A c.450C>A (p.Leu150=) c.*527C>A (n.*527C>A) | |
X | g.48905277A>C | CA412895554 | SLC35A2 | c.632T>G (p.Leu211Arg) c.355-385T>G (n.355-385T>G) c.427-385T>G (n.427-385T>G) c.212-18T>G c.416T>G (p.Leu139Arg) c.716T>G (p.Leu239Arg) c.671T>G (p.Leu224Arg) c.424+1115T>G c.449T>G (p.Leu150Arg) c.*526T>G (n.*526T>G) | |
X | g.48905277A>G | CA412895555 | SLC35A2 | c.632T>C (p.Leu211Pro) c.355-385T>C (n.355-385T>C) c.427-385T>C (n.427-385T>C) c.212-18T>C c.416T>C (p.Leu139Pro) c.716T>C (p.Leu239Pro) c.671T>C (p.Leu224Pro) c.424+1115T>C c.449T>C (p.Leu150Pro) c.*526T>C (n.*526T>C) | |
X | g.48905277A>T | CA412895556 | SLC35A2 | c.632T>A (p.Leu211His) c.355-385T>A (n.355-385T>A) c.427-385T>A (n.427-385T>A) c.212-18T>A c.416T>A (p.Leu139His) c.716T>A (p.Leu239His) c.671T>A (p.Leu224His) c.424+1115T>A c.449T>A (p.Leu150His) c.*526T>A (n.*526T>A) | gnomAD v4 |