Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48905133_48906105delinsGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACA2428428880SLC35A2c.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
Xg.48905137_48906108delCA16616606SLC35A2c.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
Xg.48905199T>ACA412895382SLC35A2c.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)
Xg.48905199T>CCA412895384SLC35A2c.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)
Xg.48905199T>GCA412895383SLC35A2c.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)
Xg.48905200G>ACA412895385SLC35A2c.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)
Xg.48905200G>CCA412895386SLC35A2c.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)
Xg.48905200G>TCA412895387SLC35A2c.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)
Xg.48905201C>ACA516360045SLC35A2c.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)
Xg.48905201C=CA2428428896SLC35A2c.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=)
Xg.48905201C>GCA516360046SLC35A2c.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
Xg.48905201C>TCA516360048SLC35A2c.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
Xg.48905202A>CCA412895388SLC35A2c.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)
Xg.48905202A>GCA412895389SLC35A2c.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)
Xg.48905202A>TCA412895390SLC35A2c.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)
Xg.48905203G>ACA516360051SLC35A2c.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)
Xg.48905203G>CCA412895391SLC35A2c.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)
Xg.48905203G>TCA412895392SLC35A2c.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)
Xg.48905204G>ACA516360054SLC35A2c.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)
Xg.48905204G>CCA412895393SLC35A2c.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)
Xg.48905204G>TCA412895394SLC35A2c.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)
Xg.48905205T>ACA412895397SLC35A2c.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)
Xg.48905205T>CCA412895396SLC35A2c.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)
Xg.48905205T>GCA412895395SLC35A2c.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)
Xg.48905206T>ACA412895398SLC35A2c.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)
Xg.48905206T>CCA412895399SLC35A2c.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)
Xg.48905206T>GCA412895400SLC35A2c.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)
Xg.48905207G>ACA10406104SLC35A2c.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
Xg.48905207G>CCA516360058SLC35A2c.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)
Xg.48905207G=CA2428428897SLC35A2c.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=)
Xg.48905207G>TCA516360061SLC35A2c.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)
Xg.48905208C>ACA412895401SLC35A2c.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)
Xg.48905208C=CA2428428898SLC35A2c.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=)
Xg.48905208C>GCA412895402SLC35A2c.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)
Xg.48905208C>TCA412895403SLC35A2c.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
Xg.48905209G>ACA412895404SLC35A2c.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
Xg.48905209G>CCA412895405SLC35A2c.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)
Xg.48905209G=CA2428428899SLC35A2c.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=)
Xg.48905209G>TCA412895406SLC35A2c.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)
Xg.48905210C>ACA516360068SLC35A2c.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)
Xg.48905210C>GCA516360065SLC35A2c.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)
Xg.48905210C>TCA516360063SLC35A2c.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)
Xg.48905211A>CCA412895407SLC35A2c.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)
Xg.48905211A>GCA412895408SLC35A2c.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)
Xg.48905211A>TCA412895409SLC35A2c.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)
Xg.48905212G>ACA516360071SLC35A2c.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)
Xg.48905212G>CCA412895411SLC35A2c.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)
Xg.48905212G>TCA412895410SLC35A2c.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)
Xg.48905213C>ACA412895412SLC35A2c.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
Xg.48905213C=CA2428428900SLC35A2c.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=)
Xg.48905213C>GCA412895413SLC35A2c.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)
Xg.48905213C>TCA412895414SLC35A2c.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
Xg.48905214C>ACA412895415SLC35A2c.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)
Xg.48905214C>GCA412895416SLC35A2c.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)
Xg.48905214C>TCA412895417SLC35A2c.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)
Xg.48905215A>CCA412895418SLC35A2c.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)
Xg.48905215A>GCA412895419SLC35A2c.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)
Xg.48905215A>TCA412895420SLC35A2c.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)
Xg.48905216C>ACA516360080SLC35A2c.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)
Xg.48905216C>GCA516360083SLC35A2c.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)
Xg.48905216C>TCA516360084SLC35A2c.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)
Xg.48905217A>CCA412895421SLC35A2c.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)
Xg.48905217A>GCA412895422SLC35A2c.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)
Xg.48905217A>TCA412895423SLC35A2c.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)
Xg.48905218C>ACA412895425SLC35A2c.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)
Xg.48905218C=CA2428428901SLC35A2c.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=)
Xg.48905218C>GCA412895424SLC35A2c.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)
Xg.48905218C>TCA329098894SLC35A2c.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
Xg.48905219G>ACA10406105SLC35A2c.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
Xg.48905219G>CCA516360089SLC35A2c.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)
Xg.48905219G=CA2428428902SLC35A2c.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=)
Xg.48905219G>TCA516360091SLC35A2c.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)
Xg.48905220G>ACA412895426SLC35A2c.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)
Xg.48905220G>CCA412895427SLC35A2c.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)
Xg.48905220G>TCA412895428SLC35A2c.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)
Xg.48905221A>CCA412895429SLC35A2c.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)
Xg.48905221A>GCA412895430SLC35A2c.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)
Xg.48905221A>TCA412895431SLC35A2c.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)
Xg.48905222G>ACA516360096SLC35A2c.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)
Xg.48905222G>CCA516360097SLC35A2c.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)
Xg.48905222G=CA2428428903SLC35A2c.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=)
Xg.48905222G>TCA516360100SLC35A2c.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
Xg.48905223C>ACA412895432SLC35A2c.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)
Xg.48905223C>GCA412895433SLC35A2c.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)
Xg.48905223C>TCA412895434SLC35A2c.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)
Xg.48905224C>ACA412895435SLC35A2c.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
Xg.48905224C=CA2428428904SLC35A2c.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=)
Xg.48905224C>GCA412895436SLC35A2c.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)
Xg.48905224C>TCA412895437SLC35A2c.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
Xg.48905225T>ACA516360105SLC35A2c.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)
Xg.48905225T>CCA516360106SLC35A2c.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
Xg.48905225T>GCA516360107SLC35A2c.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)
Xg.48905226G>ACA412895440SLC35A2c.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)
Xg.48905226G>CCA412895439SLC35A2c.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)
Xg.48905226G>TCA412895438SLC35A2c.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)
Xg.48905227A>CCA412895441SLC35A2c.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)
Xg.48905227A>GCA412895442SLC35A2c.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)
Xg.48905227A>TCA412895443SLC35A2c.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)
Xg.48905228G>ACA516360114SLC35A2c.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)
Xg.48905228G>CCA412895444SLC35A2c.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)
Xg.48905228G>TCA412895445SLC35A2c.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)
Xg.48905229C>ACA412895446SLC35A2c.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
Xg.48905229C>GCA412895447SLC35A2c.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)
Xg.48905229C>TCA412895448SLC35A2c.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)
Xg.48905230T>ACA412895449SLC35A2c.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)
Xg.48905230T>CCA412895450SLC35A2c.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)
Xg.48905230T>GCA412895451SLC35A2c.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
Xg.48905230T=CA2428428905SLC35A2c.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=)
Xg.48905231G>ACA516360120SLC35A2c.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
Xg.48905231G>CCA516360118SLC35A2c.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)
Xg.48905231G=CA2428428906SLC35A2c.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=)
Xg.48905231G>TCA516360116SLC35A2c.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)
Xg.48905232C>ACA412895452SLC35A2c.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)
Xg.48905232C>GCA412895453SLC35A2c.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)
Xg.48905232C>TCA412895454SLC35A2c.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)
Xg.48905233C>ACA412895456SLC35A2c.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)
Xg.48905233C>GCA412895457SLC35A2c.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)
Xg.48905233C>TCA412895455SLC35A2c.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)
Xg.48905234T>ACA412895458SLC35A2c.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)
Xg.48905234T>CCA516360124SLC35A2c.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)
Xg.48905234T>GCA412895459SLC35A2c.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)
Xg.48905235T>ACA412895460SLC35A2c.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)
Xg.48905235T>CCA412895461SLC35A2c.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)
Xg.48905235T>GCA412895462SLC35A2c.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)
Xg.48905236T>ACA412895463SLC35A2c.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)
Xg.48905236T>CCA412895464SLC35A2c.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)
Xg.48905236T>GCA412895465SLC35A2c.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)
Xg.48905237G>ACA516360132SLC35A2c.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)
Xg.48905237G>CCA516360134SLC35A2c.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)
Xg.48905237G>TCA516360133SLC35A2c.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)
Xg.48905238A>CCA412895466SLC35A2c.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)
Xg.48905238A>GCA412895467SLC35A2c.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)
Xg.48905238A>TCA412895468SLC35A2c.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)
Xg.48905239G>ACA412895469SLC35A2c.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)
Xg.48905239G>CCA412895470SLC35A2c.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)
Xg.48905239G>TCA412895471SLC35A2c.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)
Xg.48905240G>ACA10406106SLC35A2c.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
Xg.48905240G>CCA412895472SLC35A2c.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
Xg.48905240G=CA2428428907SLC35A2c.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=)
Xg.48905240G>TCA516360143SLC35A2c.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)
Xg.48905241A>CCA412895473SLC35A2c.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)
Xg.48905241A>GCA412895474SLC35A2c.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)
Xg.48905241A>TCA412895475SLC35A2c.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)
Xg.48905242T>ACA412895476SLC35A2c.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)
Xg.48905242T>CCA412895477SLC35A2c.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)
Xg.48905242T>GCA412895478SLC35A2c.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)
Xg.48905243C>ACA412895479SLC35A2c.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)
Xg.48905243C=CA2428428908SLC35A2c.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=)
Xg.48905243C>GCA412895480SLC35A2c.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)
Xg.48905243C>TCA516360145SLC35A2c.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
Xg.48905244T>ACA412895481SLC35A2c.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)
Xg.48905244T>CCA412895482SLC35A2c.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)
Xg.48905244T>GCA412895483SLC35A2c.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)
Xg.48905245T>ACA412895486SLC35A2c.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)
Xg.48905245T>CCA412895485SLC35A2c.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)
Xg.48905245T>GCA412895484SLC35A2c.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)
Xg.48905246C>ACA412895487SLC35A2c.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
Xg.48905246C>GCA412895488SLC35A2c.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)
Xg.48905246C>TCA516360150SLC35A2c.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)
Xg.48905247T>ACA412895489SLC35A2c.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)
Xg.48905247T>CCA412895491SLC35A2c.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)
Xg.48905247T>GCA412895490SLC35A2c.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)
Xg.48905248C>ACA412895492SLC35A2c.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
Xg.48905248C>GCA412895493SLC35A2c.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)
Xg.48905248C>TCA412895494SLC35A2c.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)
Xg.48905249A>CCA412895495SLC35A2c.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)
Xg.48905249A>GCA516360153SLC35A2c.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
Xg.48905249A>TCA412895496SLC35A2c.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)
Xg.48905250_48905254delCA2499226749SLC35A2c.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
Xg.48905250A>CCA412895497SLC35A2c.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)
Xg.48905250A>GCA412895498SLC35A2c.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)
Xg.48905250A>TCA412895499SLC35A2c.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)
Xg.48905251A>CCA412895500SLC35A2c.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)
Xg.48905251A>GCA412895501SLC35A2c.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)
Xg.48905251A>TCA412895502SLC35A2c.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)
Xg.48905252G>ACA516360155SLC35A2c.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
Xg.48905252G>CCA412895503SLC35A2c.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)
Xg.48905252G>TCA412895504SLC35A2c.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
Xg.48905253T>ACA412895505SLC35A2c.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)
Xg.48905253T>CCA412895507SLC35A2c.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)
Xg.48905253T>GCA412895506SLC35A2c.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)
Xg.48905254A>CCA412895508SLC35A2c.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)
Xg.48905254A>GCA412895509SLC35A2c.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)
Xg.48905254A>TCA412895510SLC35A2c.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)
Xg.48905255G>ACA516360159SLC35A2c.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)
Xg.48905255G>CCA516360160SLC35A2c.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)
Xg.48905255G>TCA516360161SLC35A2c.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)
Xg.48905256A>CCA412895511SLC35A2c.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)
Xg.48905256A>GCA412895512SLC35A2c.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)
Xg.48905256A>TCA412895513SLC35A2c.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)
Xg.48905257C>ACA412895514SLC35A2c.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)
Xg.48905257C>GCA412895515SLC35A2c.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)
Xg.48905257C>TCA412895516SLC35A2c.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
Xg.48905258A=CA2428428909SLC35A2c.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=)
Xg.48905258A>CCA516360164SLC35A2c.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)
Xg.48905258A>GCA329098900SLC35A2c.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
Xg.48905258A>TCA516360165SLC35A2c.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)
Xg.48905259C>ACA412895519SLC35A2c.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)
Xg.48905259C>GCA412895518SLC35A2c.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)
Xg.48905259C>TCA412895517SLC35A2c.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)
Xg.48905260C>ACA412895520SLC35A2c.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)
Xg.48905260C>GCA412895521SLC35A2c.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
Xg.48905260C>TCA412895522SLC35A2c.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)
Xg.48905261T>ACA516360167SLC35A2c.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)
Xg.48905261T>CCA516360168SLC35A2c.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
Xg.48905261T>GCA516360170SLC35A2c.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)
Xg.48905262G>ACA412895523SLC35A2c.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
Xg.48905262G>CCA412895524SLC35A2c.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)
Xg.48905262G>TCA412895525SLC35A2c.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)
Xg.48905263C>ACA412895528SLC35A2c.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
Xg.48905263C=CA2428428910SLC35A2c.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=)
Xg.48905263C>GCA412895526SLC35A2c.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)
Xg.48905263C>TCA412895527SLC35A2c.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
Xg.48905264G>ACA516360174SLC35A2c.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
Xg.48905264G>CCA412895529SLC35A2c.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)
Xg.48905264G=CA2428428911SLC35A2c.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=)
Xg.48905264G>TCA412895530SLC35A2c.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)
Xg.48905265A>CCA412895531SLC35A2c.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)
Xg.48905265A>GCA412895532SLC35A2c.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)
Xg.48905265A>TCA412895533SLC35A2c.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)
Xg.48905266A>CCA412895534SLC35A2c.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)
Xg.48905266A>GCA412895536SLC35A2c.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)
Xg.48905266A>TCA412895535SLC35A2c.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)
Xg.48905267G>ACA516360177SLC35A2c.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)
Xg.48905267G>CCA516360178SLC35A2c.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)
Xg.48905267G>TCA516360179SLC35A2c.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
Xg.48905268C>ACA412895537SLC35A2c.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
Xg.48905268C>GCA412895538SLC35A2c.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)
Xg.48905268C>TCA412895539SLC35A2c.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)
Xg.48905269C>ACA412895540SLC35A2c.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)
Xg.48905269C>GCA412895541SLC35A2c.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)
Xg.48905269C>TCA412895542SLC35A2c.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
Xg.48905269_48905272delinsCGGACA2428428912SLC35A2c.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)
Xg.48905270G>ACA10406107SLC35A2c.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
Xg.48905270G>CCA516360184SLC35A2c.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)
Xg.48905270G=CA2428428913SLC35A2c.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=)
Xg.48905270G>TCA516360186SLC35A2c.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)
Xg.48905274_48905276delCA16043321SLC35A2c.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
Xg.48905271G>ACA163127SLC35A2c.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
Xg.48905271G>CCA412895543SLC35A2c.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)
Xg.48905271G=CA2428428914SLC35A2c.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=)
Xg.48905271G>TCA412895544SLC35A2c.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
Xg.48905272A>CCA412895546SLC35A2c.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)
Xg.48905272A>GCA412895547SLC35A2c.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)
Xg.48905272A>TCA412895545SLC35A2c.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)
Xg.48905273G>ACA516360188SLC35A2c.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
Xg.48905273G>CCA516360189SLC35A2c.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)
Xg.48905273G=CA2428428915SLC35A2c.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=)
Xg.48905273G>TCA516360190SLC35A2c.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)
Xg.48905274delCA2579602645SLC35A2c.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)
Xg.48905273_48905275delinsGGACA2428428916SLC35A2c.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)
Xg.48905274G>ACA412895550SLC35A2c.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)
Xg.48905274G>CCA412895548SLC35A2c.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)
Xg.48905274G>TCA412895549SLC35A2c.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)
Xg.48905278_48905279delCA913190356SLC35A2c.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
Xg.48905275A>CCA412895551SLC35A2c.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)
Xg.48905275A>GCA412895552SLC35A2c.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)
Xg.48905275A>TCA412895553SLC35A2c.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)
Xg.48905276G>ACA516360194SLC35A2c.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)
Xg.48905276G>CCA516360195SLC35A2c.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
Xg.48905276G=CA2428428917SLC35A2c.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=)
Xg.48905276G>TCA516360196SLC35A2c.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)
Xg.48905277A>CCA412895554SLC35A2c.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)
Xg.48905277A>GCA412895555SLC35A2c.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)
Xg.48905277A>TCA412895556SLC35A2c.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
Xg.48905278G>ACA412895557SLC35A2c.631C>T (p.Leu211Phe)
c.355-386C>T (n.355-386C>T)
c.427-386C>T (n.427-386C>T)
c.212-19C>T
c.415C>T (p.Leu139Phe)
c.715C>T (p.Leu239Phe)
c.670C>T (p.Leu224Phe)
c.424+1114C>T
c.448C>T (p.Leu150Phe)
c.*525C>T (n.*525C>T)
 dbSNP gnomAD v2
Xg.48905278G>CCA412895558SLC35A2c.631C>G (p.Leu211Val)
c.355-386C>G (n.355-386C>G)
c.427-386C>G (n.427-386C>G)
c.212-19C>G
c.415C>G (p.Leu139Val)
c.715C>G (p.Leu239Val)
c.670C>G (p.Leu224Val)
c.424+1114C>G
c.448C>G (p.Leu150Val)
c.*525C>G (n.*525C>G)
Xg.48905278G=CA2428428918SLC35A2c.631C= (p.Leu211=)
c.355-386C= (n.355-386C=)
c.427-386C= (n.427-386C=)
c.212-19C=
c.415C= (p.Leu139=)
c.715C= (p.Leu239=)
c.670C= (p.Leu224=)
c.424+1114C=
c.448C= (p.Leu150=)
c.*525C= (n.*525C=)
Xg.48905278G>TCA412895559SLC35A2c.631C>A (p.Leu211Ile)
c.355-386C>A (n.355-386C>A)
c.427-386C>A (n.427-386C>A)
c.212-19C>A
c.415C>A (p.Leu139Ile)
c.715C>A (p.Leu239Ile)
c.670C>A (p.Leu224Ile)
c.424+1114C>A
c.448C>A (p.Leu150Ile)
c.*525C>A (n.*525C>A)
Xg.48905279A>CCA412895560SLC35A2c.630T>G (p.Cys210Trp)
c.355-387T>G (n.355-387T>G)
c.427-387T>G (n.427-387T>G)
c.212-20T>G
c.414T>G (p.Cys138Trp)
c.714T>G (p.Cys238Trp)
c.669T>G (p.Cys223Trp)
c.424+1113T>G
c.447T>G (p.Cys149Trp)
c.*524T>G (n.*524T>G)
Xg.48905279A>GCA516360197SLC35A2c.630T>C (p.Cys210=)
c.355-387T>C (n.355-387T>C)
c.427-387T>C (n.427-387T>C)
c.212-20T>C
c.414T>C (p.Cys138=)
c.714T>C (p.Cys238=)
c.669T>C (p.Cys223=)
c.424+1113T>C
c.447T>C (p.Cys149=)
c.*524T>C (n.*524T>C)
Xg.48905279A>TCA412895561SLC35A2c.630T>A (p.Cys210Ter)
c.355-387T>A (n.355-387T>A)
c.427-387T>A (n.427-387T>A)
c.212-20T>A
c.414T>A (p.Cys138Ter)
c.714T>A (p.Cys238Ter)
c.669T>A (p.Cys223Ter)
c.424+1113T>A
c.447T>A (p.Cys149Ter)
c.*524T>A (n.*524T>A)
Xg.48905280C>ACA412895564SLC35A2c.629G>T (p.Cys210Phe)
c.355-388G>T (n.355-388G>T)
c.427-388G>T (n.427-388G>T)
c.212-21G>T
c.413G>T (p.Cys138Phe)
c.713G>T (p.Cys238Phe)
c.668G>T (p.Cys223Phe)
c.424+1112G>T
c.446G>T (p.Cys149Phe)
c.*523G>T (n.*523G>T)
 gnomAD v4 COSMIC COSMIC
Xg.48905280C>GCA412895562SLC35A2c.629G>C (p.Cys210Ser)
c.355-388G>C (n.355-388G>C)
c.427-388G>C (n.427-388G>C)
c.212-21G>C
c.413G>C (p.Cys138Ser)
c.713G>C (p.Cys238Ser)
c.668G>C (p.Cys223Ser)
c.424+1112G>C
c.446G>C (p.Cys149Ser)
c.*523G>C (n.*523G>C)
Xg.48905280C>TCA412895563SLC35A2c.629G>A (p.Cys210Tyr)
c.355-388G>A (n.355-388G>A)
c.427-388G>A (n.427-388G>A)
c.212-21G>A
c.413G>A (p.Cys138Tyr)
c.713G>A (p.Cys238Tyr)
c.668G>A (p.Cys223Tyr)
c.424+1112G>A
c.446G>A (p.Cys149Tyr)
c.*523G>A (n.*523G>A)
Xg.48905281A>CCA412895565SLC35A2c.628T>G (p.Cys210Gly)
c.355-389T>G (n.355-389T>G)
c.427-389T>G (n.427-389T>G)
c.212-22T>G
c.412T>G (p.Cys138Gly)
c.712T>G (p.Cys238Gly)
c.667T>G (p.Cys223Gly)
c.424+1111T>G
c.445T>G (p.Cys149Gly)
c.*522T>G (n.*522T>G)
Xg.48905281A>GCA412895566SLC35A2c.628T>C (p.Cys210Arg)
c.355-389T>C (n.355-389T>C)
c.427-389T>C (n.427-389T>C)
c.212-22T>C
c.412T>C (p.Cys138Arg)
c.712T>C (p.Cys238Arg)
c.667T>C (p.Cys223Arg)
c.424+1111T>C
c.445T>C (p.Cys149Arg)
c.*522T>C (n.*522T>C)
Xg.48905281A>TCA412895567SLC35A2c.628T>A (p.Cys210Ser)
c.355-389T>A (n.355-389T>A)
c.427-389T>A (n.427-389T>A)
c.212-22T>A
c.412T>A (p.Cys138Ser)
c.712T>A (p.Cys238Ser)
c.667T>A (p.Cys223Ser)
c.424+1111T>A
c.445T>A (p.Cys149Ser)
c.*522T>A (n.*522T>A)
Xg.48905282G>ACA516360201SLC35A2c.627C>T (p.Ser209=)
c.355-390C>T (n.355-390C>T)
c.427-390C>T (n.427-390C>T)
c.212-23C>T
c.411C>T (p.Ser137=)
c.711C>T (p.Ser237=)
c.666C>T (p.Ser222=)
c.424+1110C>T
c.444C>T (p.Ser148=)
c.*521C>T (n.*521C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905282G>CCA516360202SLC35A2c.627C>G (p.Ser209=)
c.355-390C>G (n.355-390C>G)
c.427-390C>G (n.427-390C>G)
c.212-23C>G
c.411C>G (p.Ser137=)
c.711C>G (p.Ser237=)
c.666C>G (p.Ser222=)
c.424+1110C>G
c.444C>G (p.Ser148=)
c.*521C>G (n.*521C>G)
Xg.48905282G=CA2428428919SLC35A2c.627C= (p.Ser209=)
c.355-390C= (n.355-390C=)
c.427-390C= (n.427-390C=)
c.212-23C=
c.411C= (p.Ser137=)
c.711C= (p.Ser237=)
c.666C= (p.Ser222=)
c.424+1110C=
c.444C= (p.Ser148=)
c.*521C= (n.*521C=)
Xg.48905282G>TCA516360203SLC35A2c.627C>A (p.Ser209=)
c.355-390C>A (n.355-390C>A)
c.427-390C>A (n.427-390C>A)
c.212-23C>A
c.411C>A (p.Ser137=)
c.711C>A (p.Ser237=)
c.666C>A (p.Ser222=)
c.424+1110C>A
c.444C>A (p.Ser148=)
c.*521C>A (n.*521C>A)
 gnomAD v4
Xg.48905283G>ACA412895568SLC35A2c.626C>T (p.Ser209Phe)
c.355-391C>T (n.355-391C>T)
c.427-391C>T (n.427-391C>T)
c.212-24C>T
c.410C>T (p.Ser137Phe)
c.710C>T (p.Ser237Phe)
c.665C>T (p.Ser222Phe)
c.424+1109C>T
c.443C>T (p.Ser148Phe)
c.*520C>T (n.*520C>T)
Xg.48905283G>CCA412895569SLC35A2c.626C>G (p.Ser209Cys)
c.355-391C>G (n.355-391C>G)
c.427-391C>G (n.427-391C>G)
c.212-24C>G
c.410C>G (p.Ser137Cys)
c.710C>G (p.Ser237Cys)
c.665C>G (p.Ser222Cys)
c.424+1109C>G
c.443C>G (p.Ser148Cys)
c.*520C>G (n.*520C>G)
Xg.48905283G>TCA412895570SLC35A2c.626C>A (p.Ser209Tyr)
c.355-391C>A (n.355-391C>A)
c.427-391C>A (n.427-391C>A)
c.212-24C>A
c.410C>A (p.Ser137Tyr)
c.710C>A (p.Ser237Tyr)
c.665C>A (p.Ser222Tyr)
c.424+1109C>A
c.443C>A (p.Ser148Tyr)
c.*520C>A (n.*520C>A)
Xg.48905284A>CCA412895571SLC35A2c.625T>G (p.Ser209Ala)
c.355-392T>G (n.355-392T>G)
c.427-392T>G (n.427-392T>G)
c.212-25T>G
c.409T>G (p.Ser137Ala)
c.709T>G (p.Ser237Ala)
c.664T>G (p.Ser222Ala)
c.424+1108T>G
c.442T>G (p.Ser148Ala)
c.*519T>G (n.*519T>G)
Xg.48905284A>GCA412895572SLC35A2c.625T>C (p.Ser209Pro)
c.355-392T>C (n.355-392T>C)
c.427-392T>C (n.427-392T>C)
c.212-25T>C
c.409T>C (p.Ser137Pro)
c.709T>C (p.Ser237Pro)
c.664T>C (p.Ser222Pro)
c.424+1108T>C
c.442T>C (p.Ser148Pro)
c.*519T>C (n.*519T>C)
Xg.48905284A>TCA412895573SLC35A2c.625T>A (p.Ser209Thr)
c.355-392T>A (n.355-392T>A)
c.427-392T>A (n.427-392T>A)
c.212-25T>A
c.409T>A (p.Ser137Thr)
c.709T>A (p.Ser237Thr)
c.664T>A (p.Ser222Thr)
c.424+1108T>A
c.442T>A (p.Ser148Thr)
c.*519T>A (n.*519T>A)
Xg.48905285G>ACA516360205SLC35A2c.624C>T (p.Ala208=)
c.355-393C>T (n.355-393C>T)
c.427-393C>T (n.427-393C>T)
c.212-26C>T
c.408C>T (p.Ala136=)
c.708C>T (p.Ala236=)
c.663C>T (p.Ala221=)
c.424+1107C>T
c.441C>T (p.Ala147=)
c.*518C>T (n.*518C>T)
 gnomAD v4
Xg.48905285G>CCA516360206SLC35A2c.624C>G (p.Ala208=)
c.355-393C>G (n.355-393C>G)
c.427-393C>G (n.427-393C>G)
c.212-26C>G
c.408C>G (p.Ala136=)
c.708C>G (p.Ala236=)
c.663C>G (p.Ala221=)
c.424+1107C>G
c.441C>G (p.Ala147=)
c.*518C>G (n.*518C>G)
Xg.48905285G>TCA516360207SLC35A2c.624C>A (p.Ala208=)
c.355-393C>A (n.355-393C>A)
c.427-393C>A (n.427-393C>A)
c.212-26C>A
c.408C>A (p.Ala136=)
c.708C>A (p.Ala236=)
c.663C>A (p.Ala221=)
c.424+1107C>A
c.441C>A (p.Ala147=)
c.*518C>A (n.*518C>A)
Xg.48905286G>ACA412895574SLC35A2c.623C>T (p.Ala208Val)
c.355-394C>T (n.355-394C>T)
c.427-394C>T (n.427-394C>T)
c.212-27C>T
c.407C>T (p.Ala136Val)
c.707C>T (p.Ala236Val)
c.662C>T (p.Ala221Val)
c.424+1106C>T
c.440C>T (p.Ala147Val)
c.*517C>T (n.*517C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905286G>CCA412895575SLC35A2c.623C>G (p.Ala208Gly)
c.355-394C>G (n.355-394C>G)
c.427-394C>G (n.427-394C>G)
c.212-27C>G
c.407C>G (p.Ala136Gly)
c.707C>G (p.Ala236Gly)
c.662C>G (p.Ala221Gly)
c.424+1106C>G
c.440C>G (p.Ala147Gly)
c.*517C>G (n.*517C>G)
Xg.48905286G=CA2428428920SLC35A2c.623C= (p.Ala208=)
c.355-394C= (n.355-394C=)
c.427-394C= (n.427-394C=)
c.212-27C=
c.407C= (p.Ala136=)
c.707C= (p.Ala236=)
c.662C= (p.Ala221=)
c.424+1106C=
c.440C= (p.Ala147=)
c.*517C= (n.*517C=)
Xg.48905286G>TCA412895576SLC35A2c.623C>A (p.Ala208Asp)
c.355-394C>A (n.355-394C>A)
c.427-394C>A (n.427-394C>A)
c.212-27C>A
c.407C>A (p.Ala136Asp)
c.707C>A (p.Ala236Asp)
c.662C>A (p.Ala221Asp)
c.424+1106C>A
c.440C>A (p.Ala147Asp)
c.*517C>A (n.*517C>A)
Xg.48905287C>ACA412895579SLC35A2c.622G>T (p.Ala208Ser)
c.355-395G>T (n.355-395G>T)
c.427-395G>T (n.427-395G>T)
c.212-28G>T
c.406G>T (p.Ala136Ser)
c.706G>T (p.Ala236Ser)
c.661G>T (p.Ala221Ser)
c.424+1105G>T
c.439G>T (p.Ala147Ser)
c.*516G>T (n.*516G>T)
 gnomAD v4
Xg.48905287C>GCA412895578SLC35A2c.622G>C (p.Ala208Pro)
c.355-395G>C (n.355-395G>C)
c.427-395G>C (n.427-395G>C)
c.212-28G>C
c.406G>C (p.Ala136Pro)
c.706G>C (p.Ala236Pro)
c.661G>C (p.Ala221Pro)
c.424+1105G>C
c.439G>C (p.Ala147Pro)
c.*516G>C (n.*516G>C)
Xg.48905287C>TCA412895577SLC35A2c.622G>A (p.Ala208Thr)
c.355-395G>A (n.355-395G>A)
c.427-395G>A (n.427-395G>A)
c.212-28G>A
c.406G>A (p.Ala136Thr)
c.706G>A (p.Ala236Thr)
c.661G>A (p.Ala221Thr)
c.424+1105G>A
c.439G>A (p.Ala147Thr)
c.*516G>A (n.*516G>A)
Xg.48905288C>ACA516360208SLC35A2c.621G>T (p.Val207=)
c.355-396G>T (n.355-396G>T)
c.427-396G>T (n.427-396G>T)
c.212-29G>T
c.405G>T (p.Val135=)
c.705G>T (p.Val235=)
c.660G>T (p.Val220=)
c.424+1104G>T
c.438G>T (p.Val146=)
c.*515G>T (n.*515G>T)
Xg.48905288C=CA2428428922SLC35A2c.621G= (p.Val207=)
c.355-396G= (n.355-396G=)
c.427-396G= (n.427-396G=)
c.212-29G=
c.405G= (p.Val135=)
c.705G= (p.Val235=)
c.660G= (p.Val220=)
c.424+1104G=
c.438G= (p.Val146=)
c.*515G= (n.*515G=)
Xg.48905288C>GCA516360209SLC35A2c.621G>C (p.Val207=)
c.355-396G>C (n.355-396G>C)
c.427-396G>C (n.427-396G>C)
c.212-29G>C
c.405G>C (p.Val135=)
c.705G>C (p.Val235=)
c.660G>C (p.Val220=)
c.424+1104G>C
c.438G>C (p.Val146=)
c.*515G>C (n.*515G>C)
Xg.48905288C>TCA516360210SLC35A2c.621G>A (p.Val207=)
c.355-396G>A (n.355-396G>A)
c.427-396G>A (n.427-396G>A)
c.212-29G>A
c.405G>A (p.Val135=)
c.705G>A (p.Val235=)
c.660G>A (p.Val220=)
c.424+1104G>A
c.438G>A (p.Val146=)
c.*515G>A (n.*515G>A)
 dbSNP
Xg.48905288_48905292delinsCACGACA2428428921SLC35A2c.617_621delinsTCGTG (p.Val206=)
c.355-400_355-396delinsTCGTG (n.355-400_355-396delinsTCGTG)
c.427-400_427-396delinsTCGTG (n.427-400_427-396delinsTCGTG)
c.212-33_212-29delinsTCGTG
c.401_405delinsTCGTG (p.Val134=)
c.701_705delinsTCGTG (p.Val234=)
c.656_660delinsTCGTG (p.Val219=)
c.424+1100_424+1104delinsTCGTG
c.434_438delinsTCGTG (p.Val145=)
c.*511_*515delinsTCGTG (n.*511_*515delinsTCGTG)
Xg.48905289A>CCA412895580SLC35A2c.620T>G (p.Val207Gly)
c.355-397T>G (n.355-397T>G)
c.427-397T>G (n.427-397T>G)
c.212-30T>G
c.404T>G (p.Val135Gly)
c.704T>G (p.Val235Gly)
c.659T>G (p.Val220Gly)
c.424+1103T>G
c.437T>G (p.Val146Gly)
c.*514T>G (n.*514T>G)
Xg.48905289A>GCA412895581SLC35A2c.620T>C (p.Val207Ala)
c.355-397T>C (n.355-397T>C)
c.427-397T>C (n.427-397T>C)
c.212-30T>C
c.404T>C (p.Val135Ala)
c.704T>C (p.Val235Ala)
c.659T>C (p.Val220Ala)
c.424+1103T>C
c.437T>C (p.Val146Ala)
c.*514T>C (n.*514T>C)
Xg.48905289A>TCA412895582SLC35A2c.620T>A (p.Val207Glu)
c.355-397T>A (n.355-397T>A)
c.427-397T>A (n.427-397T>A)
c.212-30T>A
c.404T>A (p.Val135Glu)
c.704T>A (p.Val235Glu)
c.659T>A (p.Val220Glu)
c.424+1103T>A
c.437T>A (p.Val146Glu)
c.*514T>A (n.*514T>A)
Xg.48905289_48905292delCA16043709SLC35A2c.617_620del (p.Val206GlyfsTer?)
c.355-400_355-397del (n.355-400_355-397del)
c.427-400_427-397del (n.427-400_427-397del)
c.212-33_212-30del
c.401_404del (p.Val134GlyfsTer?)
c.701_704del (p.Val234GlyfsTer?)
c.656_659del (p.Val219GlyfsTer?)
c.424+1100_424+1103del
c.434_437del (p.Val145GlyfsTer?)
c.*511_*514del (n.*511_*514del)
 ClinVar dbSNP
Xg.48905290C>ACA412895583SLC35A2c.619G>T (p.Val207Leu)
c.355-398G>T (n.355-398G>T)
c.427-398G>T (n.427-398G>T)
c.212-31G>T
c.403G>T (p.Val135Leu)
c.703G>T (p.Val235Leu)
c.658G>T (p.Val220Leu)
c.424+1102G>T
c.436G>T (p.Val146Leu)
c.*513G>T (n.*513G>T)
Xg.48905290C=CA2428428923SLC35A2c.619G= (p.Val207=)
c.355-398G= (n.355-398G=)
c.427-398G= (n.427-398G=)
c.212-31G=
c.403G= (p.Val135=)
c.703G= (p.Val235=)
c.658G= (p.Val220=)
c.424+1102G=
c.436G= (p.Val146=)
c.*513G= (n.*513G=)
Xg.48905290C>GCA412895584SLC35A2c.619G>C (p.Val207Leu)
c.355-398G>C (n.355-398G>C)
c.427-398G>C (n.427-398G>C)
c.212-31G>C
c.403G>C (p.Val135Leu)
c.703G>C (p.Val235Leu)
c.658G>C (p.Val220Leu)
c.424+1102G>C
c.436G>C (p.Val146Leu)
c.*513G>C (n.*513G>C)
Xg.48905290C>TCA10406108SLC35A2c.619G>A (p.Val207Met)
c.355-398G>A (n.355-398G>A)
c.427-398G>A (n.427-398G>A)
c.212-31G>A
c.403G>A (p.Val135Met)
c.703G>A (p.Val235Met)
c.658G>A (p.Val220Met)
c.424+1102G>A
c.436G>A (p.Val146Met)
c.*513G>A (n.*513G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905291G>ACA10406109SLC35A2c.618C>T (p.Val206=)
c.355-399C>T (n.355-399C>T)
c.427-399C>T (n.427-399C>T)
c.212-32C>T
c.402C>T (p.Val134=)
c.702C>T (p.Val234=)
c.657C>T (p.Val219=)
c.424+1101C>T
c.435C>T (p.Val145=)
c.*512C>T (n.*512C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905291G>CCA516360213SLC35A2c.618C>G (p.Val206=)
c.355-399C>G (n.355-399C>G)
c.427-399C>G (n.427-399C>G)
c.212-32C>G
c.402C>G (p.Val134=)
c.702C>G (p.Val234=)
c.657C>G (p.Val219=)
c.424+1101C>G
c.435C>G (p.Val145=)
c.*512C>G (n.*512C>G)
Xg.48905291G=CA2428428924SLC35A2c.618C= (p.Val206=)
c.355-399C= (n.355-399C=)
c.427-399C= (n.427-399C=)
c.212-32C=
c.402C= (p.Val134=)
c.702C= (p.Val234=)
c.657C= (p.Val219=)
c.424+1101C=
c.435C= (p.Val145=)
c.*512C= (n.*512C=)
Xg.48905291G>TCA516360212SLC35A2c.618C>A (p.Val206=)
c.355-399C>A (n.355-399C>A)
c.427-399C>A (n.427-399C>A)
c.212-32C>A
c.402C>A (p.Val134=)
c.702C>A (p.Val234=)
c.657C>A (p.Val219=)
c.424+1101C>A
c.435C>A (p.Val145=)
c.*512C>A (n.*512C>A)
 COSMIC
Xg.48905292delCA2695233839SLC35A2c.617del (p.Val206AlafsTer?)
c.355-400del (n.355-400del)
c.427-400del (n.427-400del)
c.212-33del
c.401del (p.Val134AlafsTer?)
c.701del (p.Val234AlafsTer?)
c.656del (p.Val219AlafsTer?)
c.424+1100del
c.434del (p.Val145AlafsTer?)
c.*511del (n.*511del)
Xg.48905292A>CCA412895585SLC35A2c.617T>G (p.Val206Gly)
c.355-400T>G (n.355-400T>G)
c.427-400T>G (n.427-400T>G)
c.212-33T>G
c.401T>G (p.Val134Gly)
c.701T>G (p.Val234Gly)
c.656T>G (p.Val219Gly)
c.424+1100T>G
c.434T>G (p.Val145Gly)
c.*511T>G (n.*511T>G)
Xg.48905292A>GCA412895587SLC35A2c.617T>C (p.Val206Ala)
c.355-400T>C (n.355-400T>C)
c.427-400T>C (n.427-400T>C)
c.212-33T>C
c.401T>C (p.Val134Ala)
c.701T>C (p.Val234Ala)
c.656T>C (p.Val219Ala)
c.424+1100T>C
c.434T>C (p.Val145Ala)
c.*511T>C (n.*511T>C)
 gnomAD v4
Xg.48905292A>TCA412895586SLC35A2c.617T>A (p.Val206Asp)
c.355-400T>A (n.355-400T>A)
c.427-400T>A (n.427-400T>A)
c.212-33T>A
c.401T>A (p.Val134Asp)
c.701T>A (p.Val234Asp)
c.656T>A (p.Val219Asp)
c.424+1100T>A
c.434T>A (p.Val145Asp)
c.*511T>A (n.*511T>A)
Xg.48905293C>ACA412895588SLC35A2c.616G>T (p.Val206Phe)
c.355-401G>T (n.355-401G>T)
c.427-401G>T (n.427-401G>T)
c.212-34G>T
c.400G>T (p.Val134Phe)
c.700G>T (p.Val234Phe)
c.655G>T (p.Val219Phe)
c.424+1099G>T
c.433G>T (p.Val145Phe)
c.*510G>T (n.*510G>T)
 ClinVar
Xg.48905293C=CA2428428925SLC35A2c.616G= (p.Val206=)
c.355-401G= (n.355-401G=)
c.427-401G= (n.427-401G=)
c.212-34G=
c.400G= (p.Val134=)
c.700G= (p.Val234=)
c.655G= (p.Val219=)
c.424+1099G=
c.433G= (p.Val145=)
c.*510G= (n.*510G=)
Xg.48905293C>GCA412895589SLC35A2c.616G>C (p.Val206Leu)
c.355-401G>C (n.355-401G>C)
c.427-401G>C (n.427-401G>C)
c.212-34G>C
c.400G>C (p.Val134Leu)
c.700G>C (p.Val234Leu)
c.655G>C (p.Val219Leu)
c.424+1099G>C
c.433G>C (p.Val145Leu)
c.*510G>C (n.*510G>C)
Xg.48905293C>TCA412895590SLC35A2c.616G>A (p.Val206Ile)
c.355-401G>A (n.355-401G>A)
c.427-401G>A (n.427-401G>A)
c.212-34G>A
c.400G>A (p.Val134Ile)
c.700G>A (p.Val234Ile)
c.655G>A (p.Val219Ile)
c.424+1099G>A
c.433G>A (p.Val145Ile)
c.*510G>A (n.*510G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905294G>ACA10406110SLC35A2c.615C>T (p.Ala205=)
c.355-402C>T (n.355-402C>T)
c.427-402C>T (n.427-402C>T)
c.212-35C>T
c.399C>T (p.Ala133=)
c.699C>T (p.Ala233=)
c.654C>T (p.Ala218=)
c.424+1098C>T
c.432C>T (p.Ala144=)
c.*509C>T (n.*509C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905294G>CCA516360216SLC35A2c.615C>G (p.Ala205=)
c.355-402C>G (n.355-402C>G)
c.427-402C>G (n.427-402C>G)
c.212-35C>G
c.399C>G (p.Ala133=)
c.699C>G (p.Ala233=)
c.654C>G (p.Ala218=)
c.424+1098C>G
c.432C>G (p.Ala144=)
c.*509C>G (n.*509C>G)
Xg.48905294G=CA2428428926SLC35A2c.615C= (p.Ala205=)
c.355-402C= (n.355-402C=)
c.427-402C= (n.427-402C=)
c.212-35C=
c.399C= (p.Ala133=)
c.699C= (p.Ala233=)
c.654C= (p.Ala218=)
c.424+1098C=
c.432C= (p.Ala144=)
c.*509C= (n.*509C=)
Xg.48905294G>TCA516360217SLC35A2c.615C>A (p.Ala205=)
c.355-402C>A (n.355-402C>A)
c.427-402C>A (n.427-402C>A)
c.212-35C>A
c.399C>A (p.Ala133=)
c.699C>A (p.Ala233=)
c.654C>A (p.Ala218=)
c.424+1098C>A
c.432C>A (p.Ala144=)
c.*509C>A (n.*509C>A)
Xg.48905295G>ACA412895591SLC35A2c.614C>T (p.Ala205Val)
c.355-403C>T (n.355-403C>T)
c.427-403C>T (n.427-403C>T)
c.212-36C>T
c.398C>T (p.Ala133Val)
c.698C>T (p.Ala233Val)
c.653C>T (p.Ala218Val)
c.424+1097C>T
c.431C>T (p.Ala144Val)
c.*508C>T (n.*508C>T)
 gnomAD v4
Xg.48905295G>CCA412895593SLC35A2c.614C>G (p.Ala205Gly)
c.355-403C>G (n.355-403C>G)
c.427-403C>G (n.427-403C>G)
c.212-36C>G
c.398C>G (p.Ala133Gly)
c.698C>G (p.Ala233Gly)
c.653C>G (p.Ala218Gly)
c.424+1097C>G
c.431C>G (p.Ala144Gly)
c.*508C>G (n.*508C>G)
Xg.48905295G>TCA412895592SLC35A2c.614C>A (p.Ala205Asp)
c.355-403C>A (n.355-403C>A)
c.427-403C>A (n.427-403C>A)
c.212-36C>A
c.398C>A (p.Ala133Asp)
c.698C>A (p.Ala233Asp)
c.653C>A (p.Ala218Asp)
c.424+1097C>A
c.431C>A (p.Ala144Asp)
c.*508C>A (n.*508C>A)
Xg.48905296C>ACA412895594SLC35A2c.613G>T (p.Ala205Ser)
c.355-404G>T (n.355-404G>T)
c.427-404G>T (n.427-404G>T)
c.212-37G>T
c.397G>T (p.Ala133Ser)
c.697G>T (p.Ala233Ser)
c.652G>T (p.Ala218Ser)
c.574G>T
c.424+1096G>T
c.430G>T (p.Ala144Ser)
c.*507G>T (n.*507G>T)
Xg.48905296C>GCA412895595SLC35A2c.613G>C (p.Ala205Pro)
c.355-404G>C (n.355-404G>C)
c.427-404G>C (n.427-404G>C)
c.212-37G>C
c.397G>C (p.Ala133Pro)
c.697G>C (p.Ala233Pro)
c.652G>C (p.Ala218Pro)
c.574G>C
c.424+1096G>C
c.430G>C (p.Ala144Pro)
c.*507G>C (n.*507G>C)
Xg.48905296C>TCA412895596SLC35A2c.613G>A (p.Ala205Thr)
c.355-404G>A (n.355-404G>A)
c.427-404G>A (n.427-404G>A)
c.212-37G>A
c.397G>A (p.Ala133Thr)
c.697G>A (p.Ala233Thr)
c.652G>A (p.Ala218Thr)
c.574G>A
c.424+1096G>A
c.430G>A (p.Ala144Thr)
c.*507G>A (n.*507G>A)
Xg.48905297T>ACA516360218SLC35A2c.612A>T (p.Ala204=)
c.355-405A>T (n.355-405A>T)
c.427-405A>T (n.427-405A>T)
c.212-38A>T
c.396A>T (p.Ala132=)
c.696A>T (p.Ala232=)
c.651A>T (p.Ala217=)
c.573A>T (p.Ala191=)
c.424+1095A>T
c.429A>T (p.Ala143=)
c.*506A>T (n.*506A>T)
 gnomAD v4
Xg.48905297T>CCA516360219SLC35A2c.612A>G (p.Ala204=)
c.355-405A>G (n.355-405A>G)
c.427-405A>G (n.427-405A>G)
c.212-38A>G
c.396A>G (p.Ala132=)
c.696A>G (p.Ala232=)
c.651A>G (p.Ala217=)
c.573A>G (p.Ala191=)
c.424+1095A>G
c.429A>G (p.Ala143=)
c.*506A>G (n.*506A>G)
Xg.48905297T>GCA516360220SLC35A2c.612A>C (p.Ala204=)
c.355-405A>C (n.355-405A>C)
c.427-405A>C (n.427-405A>C)
c.212-38A>C
c.396A>C (p.Ala132=)
c.696A>C (p.Ala232=)
c.651A>C (p.Ala217=)
c.573A>C (p.Ala191=)
c.424+1095A>C
c.429A>C (p.Ala143=)
c.*506A>C (n.*506A>C)
Xg.48905298G>ACA412895597SLC35A2c.611C>T (p.Ala204Val)
c.355-406C>T (n.355-406C>T)
c.427-406C>T (n.427-406C>T)
c.212-39C>T
c.395C>T (p.Ala132Val)
c.695C>T (p.Ala232Val)
c.650C>T (p.Ala217Val)
c.572C>T (p.Ala191Val)
c.424+1094C>T
c.428C>T (p.Ala143Val)
c.*505C>T (n.*505C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.48905298G>CCA412895598SLC35A2c.611C>G (p.Ala204Gly)
c.355-406C>G (n.355-406C>G)
c.427-406C>G (n.427-406C>G)
c.212-39C>G
c.395C>G (p.Ala132Gly)
c.695C>G (p.Ala232Gly)
c.650C>G (p.Ala217Gly)
c.572C>G (p.Ala191Gly)
c.424+1094C>G
c.428C>G (p.Ala143Gly)
c.*505C>G (n.*505C>G)
Xg.48905298G=CA2428428927SLC35A2c.611C= (p.Ala204=)
c.355-406C= (n.355-406C=)
c.427-406C= (n.427-406C=)
c.212-39C=
c.395C= (p.Ala132=)
c.695C= (p.Ala232=)
c.650C= (p.Ala217=)
c.572C= (p.Ala191=)
c.424+1094C=
c.428C= (p.Ala143=)
c.*505C= (n.*505C=)
Xg.48905298G>TCA412895599SLC35A2c.611C>A (p.Ala204Glu)
c.355-406C>A (n.355-406C>A)
c.427-406C>A (n.427-406C>A)
c.212-39C>A
c.395C>A (p.Ala132Glu)
c.695C>A (p.Ala232Glu)
c.650C>A (p.Ala217Glu)
c.572C>A (p.Ala191Glu)
c.424+1094C>A
c.428C>A (p.Ala143Glu)
c.*505C>A (n.*505C>A)
 gnomAD v4
Xg.48905299C>ACA412895600SLC35A2c.610G>T (p.Ala204Ser)
c.355-407G>T (n.355-407G>T)
c.427-407G>T (n.427-407G>T)
c.212-40G>T
c.394G>T (p.Ala132Ser)
c.694G>T (p.Ala232Ser)
c.649G>T (p.Ala217Ser)
c.571G>T (p.Ala191Ser)
c.424+1093G>T
c.427G>T (p.Ala143Ser)
c.*504G>T (n.*504G>T)
 gnomAD v4
Xg.48905299C>GCA412895601SLC35A2c.610G>C (p.Ala204Pro)
c.355-407G>C (n.355-407G>C)
c.427-407G>C (n.427-407G>C)
c.212-40G>C
c.394G>C (p.Ala132Pro)
c.694G>C (p.Ala232Pro)
c.649G>C (p.Ala217Pro)
c.571G>C (p.Ala191Pro)
c.424+1093G>C
c.427G>C (p.Ala143Pro)
c.*504G>C (n.*504G>C)
Xg.48905299C>TCA412895602SLC35A2c.610G>A (p.Ala204Thr)
c.355-407G>A (n.355-407G>A)
c.427-407G>A (n.427-407G>A)
c.212-40G>A
c.394G>A (p.Ala132Thr)
c.694G>A (p.Ala232Thr)
c.649G>A (p.Ala217Thr)
c.571G>A (p.Ala191Thr)
c.424+1093G>A
c.427G>A (p.Ala143Thr)
c.*504G>A (n.*504G>A)
 ClinVar dbSNP

Number of alleles fetched