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.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.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
Xg.48905300C>ACA516360224SLC35A2c.609G>T (p.Leu203=)
c.355-408G>T (n.355-408G>T)
c.427-408G>T (n.427-408G>T)
c.212-41G>T
c.393G>T (p.Leu131=)
c.693G>T (p.Leu231=)
c.648G>T (p.Leu216=)
c.570G>T (p.Leu190=)
c.424+1092G>T
c.426G>T (p.Leu142=)
c.*503G>T (n.*503G>T)
 gnomAD v4
Xg.48905300C>GCA516360225SLC35A2c.609G>C (p.Leu203=)
c.355-408G>C (n.355-408G>C)
c.427-408G>C (n.427-408G>C)
c.212-41G>C
c.393G>C (p.Leu131=)
c.693G>C (p.Leu231=)
c.648G>C (p.Leu216=)
c.570G>C (p.Leu190=)
c.424+1092G>C
c.426G>C (p.Leu142=)
c.*503G>C (n.*503G>C)
Xg.48905300C>TCA516360226SLC35A2c.609G>A (p.Leu203=)
c.355-408G>A (n.355-408G>A)
c.427-408G>A (n.427-408G>A)
c.212-41G>A
c.393G>A (p.Leu131=)
c.693G>A (p.Leu231=)
c.648G>A (p.Leu216=)
c.570G>A (p.Leu190=)
c.424+1092G>A
c.426G>A (p.Leu142=)
c.*503G>A (n.*503G>A)
Xg.48905301A>CCA412895603SLC35A2c.608T>G (p.Leu203Arg)
c.355-409T>G (n.355-409T>G)
c.427-409T>G (n.427-409T>G)
c.212-42T>G
c.392T>G (p.Leu131Arg)
c.692T>G (p.Leu231Arg)
c.647T>G (p.Leu216Arg)
c.569T>G (p.Leu190Arg)
c.424+1091T>G
c.425T>G (p.Leu142Arg)
c.*502T>G (n.*502T>G)
Xg.48905301A>GCA412895604SLC35A2c.608T>C (p.Leu203Pro)
c.355-409T>C (n.355-409T>C)
c.427-409T>C (n.427-409T>C)
c.212-42T>C
c.392T>C (p.Leu131Pro)
c.692T>C (p.Leu231Pro)
c.647T>C (p.Leu216Pro)
c.569T>C (p.Leu190Pro)
c.424+1091T>C
c.425T>C (p.Leu142Pro)
c.*502T>C (n.*502T>C)
Xg.48905301A>TCA412895605SLC35A2c.608T>A (p.Leu203Gln)
c.355-409T>A (n.355-409T>A)
c.427-409T>A (n.427-409T>A)
c.212-42T>A
c.392T>A (p.Leu131Gln)
c.692T>A (p.Leu231Gln)
c.647T>A (p.Leu216Gln)
c.569T>A (p.Leu190Gln)
c.424+1091T>A
c.425T>A (p.Leu142Gln)
c.*502T>A (n.*502T>A)
Xg.48905302G>ACA516360227SLC35A2c.607C>T (p.Leu203=)
c.355-410C>T (n.355-410C>T)
c.427-410C>T (n.427-410C>T)
c.212-43C>T
c.391C>T (p.Leu131=)
c.691C>T (p.Leu231=)
c.646C>T (p.Leu216=)
c.568C>T (p.Leu190=)
c.424+1090C>T
c.424C>T (p.Leu142=)
c.*501C>T (n.*501C>T)
Xg.48905302G>CCA412895607SLC35A2c.607C>G (p.Leu203Val)
c.355-410C>G (n.355-410C>G)
c.427-410C>G (n.427-410C>G)
c.212-43C>G
c.391C>G (p.Leu131Val)
c.691C>G (p.Leu231Val)
c.646C>G (p.Leu216Val)
c.568C>G (p.Leu190Val)
c.424+1090C>G
c.424C>G (p.Leu142Val)
c.*501C>G (n.*501C>G)
Xg.48905302G>TCA412895606SLC35A2c.607C>A (p.Leu203Met)
c.355-410C>A (n.355-410C>A)
c.427-410C>A (n.427-410C>A)
c.212-43C>A
c.391C>A (p.Leu131Met)
c.691C>A (p.Leu231Met)
c.646C>A (p.Leu216Met)
c.568C>A (p.Leu190Met)
c.424+1090C>A
c.424C>A (p.Leu142Met)
c.*501C>A (n.*501C>A)
 gnomAD v4
Xg.48905303G>ACA516360228SLC35A2c.606C>T (p.Gly202=)
c.355-411C>T (n.355-411C>T)
c.427-411C>T (n.427-411C>T)
c.212-44C>T
c.390C>T (p.Gly130=)
c.690C>T (p.Gly230=)
c.645C>T (p.Gly215=)
c.567C>T (p.Gly189=)
c.424+1089C>T
c.423C>T (p.Gly141=)
c.*500C>T (n.*500C>T)
Xg.48905303G>CCA516360229SLC35A2c.606C>G (p.Gly202=)
c.355-411C>G (n.355-411C>G)
c.427-411C>G (n.427-411C>G)
c.212-44C>G
c.390C>G (p.Gly130=)
c.690C>G (p.Gly230=)
c.645C>G (p.Gly215=)
c.567C>G (p.Gly189=)
c.424+1089C>G
c.423C>G (p.Gly141=)
c.*500C>G (n.*500C>G)
Xg.48905303G>TCA516360230SLC35A2c.606C>A (p.Gly202=)
c.355-411C>A (n.355-411C>A)
c.427-411C>A (n.427-411C>A)
c.212-44C>A
c.390C>A (p.Gly130=)
c.690C>A (p.Gly230=)
c.645C>A (p.Gly215=)
c.567C>A (p.Gly189=)
c.424+1089C>A
c.423C>A (p.Gly141=)
c.*500C>A (n.*500C>A)
Xg.48905304C>ACA412895608SLC35A2c.605G>T (p.Gly202Val)
c.355-412G>T (n.355-412G>T)
c.427-412G>T (n.427-412G>T)
c.212-45G>T
c.389G>T (p.Gly130Val)
c.689G>T (p.Gly230Val)
c.644G>T (p.Gly215Val)
c.566G>T (p.Gly189Val)
c.424+1088G>T
c.422G>T (p.Gly141Val)
c.*499G>T (n.*499G>T)
 gnomAD v4
Xg.48905304C>GCA412895610SLC35A2c.605G>C (p.Gly202Ala)
c.355-412G>C (n.355-412G>C)
c.427-412G>C (n.427-412G>C)
c.212-45G>C
c.389G>C (p.Gly130Ala)
c.689G>C (p.Gly230Ala)
c.644G>C (p.Gly215Ala)
c.566G>C (p.Gly189Ala)
c.424+1088G>C
c.422G>C (p.Gly141Ala)
c.*499G>C (n.*499G>C)
Xg.48905304C>TCA412895609SLC35A2c.605G>A (p.Gly202Asp)
c.355-412G>A (n.355-412G>A)
c.427-412G>A (n.427-412G>A)
c.212-45G>A
c.389G>A (p.Gly130Asp)
c.689G>A (p.Gly230Asp)
c.644G>A (p.Gly215Asp)
c.566G>A (p.Gly189Asp)
c.424+1088G>A
c.422G>A (p.Gly141Asp)
c.*499G>A (n.*499G>A)
Xg.48905305C>ACA412895611SLC35A2c.604G>T (p.Gly202Cys)
c.355-413G>T (n.355-413G>T)
c.427-413G>T (n.427-413G>T)
c.212-46G>T
c.388G>T (p.Gly130Cys)
c.688G>T (p.Gly230Cys)
c.643G>T (p.Gly215Cys)
c.565G>T (p.Gly189Cys)
c.424+1087G>T
c.421G>T (p.Gly141Cys)
c.*498G>T (n.*498G>T)
 gnomAD v4
Xg.48905305C>GCA412895613SLC35A2c.604G>C (p.Gly202Arg)
c.355-413G>C (n.355-413G>C)
c.427-413G>C (n.427-413G>C)
c.212-46G>C
c.388G>C (p.Gly130Arg)
c.688G>C (p.Gly230Arg)
c.643G>C (p.Gly215Arg)
c.565G>C (p.Gly189Arg)
c.424+1087G>C
c.421G>C (p.Gly141Arg)
c.*498G>C (n.*498G>C)
Xg.48905305C>TCA412895612SLC35A2c.604G>A (p.Gly202Ser)
c.355-413G>A (n.355-413G>A)
c.427-413G>A (n.427-413G>A)
c.212-46G>A
c.388G>A (p.Gly130Ser)
c.688G>A (p.Gly230Ser)
c.643G>A (p.Gly215Ser)
c.565G>A (p.Gly189Ser)
c.424+1087G>A
c.421G>A (p.Gly141Ser)
c.*498G>A (n.*498G>A)
 gnomAD v4
Xg.48905306T>ACA516360232SLC35A2c.603A>T (p.Ala201=)
c.355-414A>T (n.355-414A>T)
c.427-414A>T (n.427-414A>T)
c.212-47A>T
c.387A>T (p.Ala129=)
c.687A>T (p.Ala229=)
c.642A>T (p.Ala214=)
c.564A>T (p.Ala188=)
c.424+1086A>T
c.420A>T (p.Ala140=)
c.*497A>T (n.*497A>T)
Xg.48905306T>CCA516360233SLC35A2c.603A>G (p.Ala201=)
c.355-414A>G (n.355-414A>G)
c.427-414A>G (n.427-414A>G)
c.212-47A>G
c.387A>G (p.Ala129=)
c.687A>G (p.Ala229=)
c.642A>G (p.Ala214=)
c.564A>G (p.Ala188=)
c.424+1086A>G
c.420A>G (p.Ala140=)
c.*497A>G (n.*497A>G)
Xg.48905306T>GCA516360234SLC35A2c.603A>C (p.Ala201=)
c.355-414A>C (n.355-414A>C)
c.427-414A>C (n.427-414A>C)
c.212-47A>C
c.387A>C (p.Ala129=)
c.687A>C (p.Ala229=)
c.642A>C (p.Ala214=)
c.564A>C (p.Ala188=)
c.424+1086A>C
c.420A>C (p.Ala140=)
c.*497A>C (n.*497A>C)
Xg.48905307G>ACA412895614SLC35A2c.602C>T (p.Ala201Val)
c.355-415C>T (n.355-415C>T)
c.427-415C>T (n.427-415C>T)
c.212-48C>T
c.386C>T (p.Ala129Val)
c.686C>T (p.Ala229Val)
c.641C>T (p.Ala214Val)
c.563C>T (p.Ala188Val)
c.424+1085C>T
c.419C>T (p.Ala140Val)
c.*496C>T (n.*496C>T)
Xg.48905307G>CCA412895616SLC35A2c.602C>G (p.Ala201Gly)
c.355-415C>G (n.355-415C>G)
c.427-415C>G (n.427-415C>G)
c.212-48C>G
c.386C>G (p.Ala129Gly)
c.686C>G (p.Ala229Gly)
c.641C>G (p.Ala214Gly)
c.563C>G (p.Ala188Gly)
c.424+1085C>G
c.419C>G (p.Ala140Gly)
c.*496C>G (n.*496C>G)
Xg.48905307G>TCA412895615SLC35A2c.602C>A (p.Ala201Glu)
c.355-415C>A (n.355-415C>A)
c.427-415C>A (n.427-415C>A)
c.212-48C>A
c.386C>A (p.Ala129Glu)
c.686C>A (p.Ala229Glu)
c.641C>A (p.Ala214Glu)
c.563C>A (p.Ala188Glu)
c.424+1085C>A
c.419C>A (p.Ala140Glu)
c.*496C>A (n.*496C>A)
 gnomAD v4
Xg.48905308C>ACA412895617SLC35A2c.601G>T (p.Ala201Ser)
c.355-416G>T (n.355-416G>T)
c.427-416G>T (n.427-416G>T)
c.212-49G>T
c.385G>T (p.Ala129Ser)
c.685G>T (p.Ala229Ser)
c.640G>T (p.Ala214Ser)
c.562G>T (p.Ala188Ser)
c.424+1084G>T
c.418G>T (p.Ala140Ser)
c.*495G>T (n.*495G>T)
Xg.48905308C>GCA412895618SLC35A2c.601G>C (p.Ala201Pro)
c.355-416G>C (n.355-416G>C)
c.427-416G>C (n.427-416G>C)
c.212-49G>C
c.385G>C (p.Ala129Pro)
c.685G>C (p.Ala229Pro)
c.640G>C (p.Ala214Pro)
c.562G>C (p.Ala188Pro)
c.424+1084G>C
c.418G>C (p.Ala140Pro)
c.*495G>C (n.*495G>C)
Xg.48905308C>TCA412895619SLC35A2c.601G>A (p.Ala201Thr)
c.355-416G>A (n.355-416G>A)
c.427-416G>A (n.427-416G>A)
c.212-49G>A
c.385G>A (p.Ala129Thr)
c.685G>A (p.Ala229Thr)
c.640G>A (p.Ala214Thr)
c.562G>A (p.Ala188Thr)
c.424+1084G>A
c.418G>A (p.Ala140Thr)
c.*495G>A (n.*495G>A)
Xg.48905311delCA2499226750SLC35A2c.601del (p.Ala201GlnfsTer?)
c.355-416del (n.355-416del)
c.427-416del (n.427-416del)
c.212-49del
c.385del (p.Ala129GlnfsTer?)
c.685del (p.Ala229GlnfsTer?)
c.640del (p.Ala214GlnfsTer?)
c.562del (p.Ala188GlnfsTer?)
c.424+1084del
c.418del (p.Ala140GlnfsTer?)
c.*495del (n.*495del)
 ClinVar dbSNP
Xg.48905309C>ACA516360238SLC35A2c.600G>T (p.Gly200=)
c.355-417G>T (n.355-417G>T)
c.427-417G>T (n.427-417G>T)
c.212-50G>T
c.384G>T (p.Gly128=)
c.684G>T (p.Gly228=)
c.639G>T (p.Gly213=)
c.561G>T (p.Gly187=)
c.424+1083G>T
c.417G>T (p.Gly139=)
c.*494G>T (n.*494G>T)
Xg.48905309C>GCA516360239SLC35A2c.600G>C (p.Gly200=)
c.355-417G>C (n.355-417G>C)
c.427-417G>C (n.427-417G>C)
c.212-50G>C
c.384G>C (p.Gly128=)
c.684G>C (p.Gly228=)
c.639G>C (p.Gly213=)
c.561G>C (p.Gly187=)
c.424+1083G>C
c.417G>C (p.Gly139=)
c.*494G>C (n.*494G>C)
Xg.48905309C>TCA516360240SLC35A2c.600G>A (p.Gly200=)
c.355-417G>A (n.355-417G>A)
c.427-417G>A (n.427-417G>A)
c.212-50G>A
c.384G>A (p.Gly128=)
c.684G>A (p.Gly228=)
c.639G>A (p.Gly213=)
c.561G>A (p.Gly187=)
c.424+1083G>A
c.417G>A (p.Gly139=)
c.*494G>A (n.*494G>A)
Xg.48905310C>ACA412895620SLC35A2c.599G>T (p.Gly200Val)
c.355-418G>T (n.355-418G>T)
c.427-418G>T (n.427-418G>T)
c.212-51G>T
c.383G>T (p.Gly128Val)
c.683G>T (p.Gly228Val)
c.638G>T (p.Gly213Val)
c.560G>T (p.Gly187Val)
c.424+1082G>T
c.416G>T (p.Gly139Val)
c.*493G>T (n.*493G>T)
Xg.48905310C=CA2428428928SLC35A2c.599G= (p.Gly200=)
c.355-418G= (n.355-418G=)
c.427-418G= (n.427-418G=)
c.212-51G=
c.383G= (p.Gly128=)
c.683G= (p.Gly228=)
c.638G= (p.Gly213=)
c.560G= (p.Gly187=)
c.424+1082G=
c.416G= (p.Gly139=)
c.*493G= (n.*493G=)
Xg.48905310C>GCA412895621SLC35A2c.599G>C (p.Gly200Ala)
c.355-418G>C (n.355-418G>C)
c.427-418G>C (n.427-418G>C)
c.212-51G>C
c.383G>C (p.Gly128Ala)
c.683G>C (p.Gly228Ala)
c.638G>C (p.Gly213Ala)
c.560G>C (p.Gly187Ala)
c.424+1082G>C
c.416G>C (p.Gly139Ala)
c.*493G>C (n.*493G>C)
Xg.48905310C>TCA412895622SLC35A2c.599G>A (p.Gly200Glu)
c.355-418G>A (n.355-418G>A)
c.427-418G>A (n.427-418G>A)
c.212-51G>A
c.383G>A (p.Gly128Glu)
c.683G>A (p.Gly228Glu)
c.638G>A (p.Gly213Glu)
c.560G>A (p.Gly187Glu)
c.424+1082G>A
c.416G>A (p.Gly139Glu)
c.*493G>A (n.*493G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905311C>ACA412895623SLC35A2c.598G>T (p.Gly200Trp)
c.355-419G>T (n.355-419G>T)
c.427-419G>T (n.427-419G>T)
c.212-52G>T
c.382G>T (p.Gly128Trp)
c.682G>T (p.Gly228Trp)
c.637G>T (p.Gly213Trp)
c.559G>T (p.Gly187Trp)
c.424+1081G>T
c.415G>T (p.Gly139Trp)
c.*492G>T (n.*492G>T)
 gnomAD v4
Xg.48905311C>GCA412895624SLC35A2c.598G>C (p.Gly200Arg)
c.355-419G>C (n.355-419G>C)
c.427-419G>C (n.427-419G>C)
c.212-52G>C
c.382G>C (p.Gly128Arg)
c.682G>C (p.Gly228Arg)
c.637G>C (p.Gly213Arg)
c.559G>C (p.Gly187Arg)
c.424+1081G>C
c.415G>C (p.Gly139Arg)
c.*492G>C (n.*492G>C)
Xg.48905311C>TCA412895625SLC35A2c.598G>A (p.Gly200Arg)
c.355-419G>A (n.355-419G>A)
c.427-419G>A (n.427-419G>A)
c.212-52G>A
c.382G>A (p.Gly128Arg)
c.682G>A (p.Gly228Arg)
c.637G>A (p.Gly213Arg)
c.559G>A (p.Gly187Arg)
c.424+1081G>A
c.415G>A (p.Gly139Arg)
c.*492G>A (n.*492G>A)
Xg.48905312A>CCA516360242SLC35A2c.597T>G (p.Pro199=)
c.355-420T>G (n.355-420T>G)
c.427-420T>G (n.427-420T>G)
c.212-53T>G
c.381T>G (p.Pro127=)
c.681T>G (p.Pro227=)
c.636T>G (p.Pro212=)
c.558T>G (p.Pro186=)
c.424+1080T>G
c.414T>G (p.Pro138=)
c.*491T>G (n.*491T>G)
Xg.48905312A>GCA516360243SLC35A2c.597T>C (p.Pro199=)
c.355-420T>C (n.355-420T>C)
c.427-420T>C (n.427-420T>C)
c.212-53T>C
c.381T>C (p.Pro127=)
c.681T>C (p.Pro227=)
c.636T>C (p.Pro212=)
c.558T>C (p.Pro186=)
c.424+1080T>C
c.414T>C (p.Pro138=)
c.*491T>C (n.*491T>C)
Xg.48905312A>TCA516360244SLC35A2c.597T>A (p.Pro199=)
c.355-420T>A (n.355-420T>A)
c.427-420T>A (n.427-420T>A)
c.212-53T>A
c.381T>A (p.Pro127=)
c.681T>A (p.Pro227=)
c.636T>A (p.Pro212=)
c.558T>A (p.Pro186=)
c.424+1080T>A
c.414T>A (p.Pro138=)
c.*491T>A (n.*491T>A)
Xg.48905313G>ACA412895626SLC35A2c.596C>T (p.Pro199Leu)
c.355-421C>T (n.355-421C>T)
c.427-421C>T (n.427-421C>T)
c.212-54C>T
c.380C>T (p.Pro127Leu)
c.680C>T (p.Pro227Leu)
c.635C>T (p.Pro212Leu)
c.557C>T (p.Pro186Leu)
c.424+1079C>T
c.413C>T (p.Pro138Leu)
c.*490C>T (n.*490C>T)
 gnomAD v4
Xg.48905313G>CCA412895627SLC35A2c.596C>G (p.Pro199Arg)
c.355-421C>G (n.355-421C>G)
c.427-421C>G (n.427-421C>G)
c.212-54C>G
c.380C>G (p.Pro127Arg)
c.680C>G (p.Pro227Arg)
c.635C>G (p.Pro212Arg)
c.557C>G (p.Pro186Arg)
c.424+1079C>G
c.413C>G (p.Pro138Arg)
c.*490C>G (n.*490C>G)
Xg.48905313G>TCA412895628SLC35A2c.596C>A (p.Pro199His)
c.355-421C>A (n.355-421C>A)
c.427-421C>A (n.427-421C>A)
c.212-54C>A
c.380C>A (p.Pro127His)
c.680C>A (p.Pro227His)
c.635C>A (p.Pro212His)
c.557C>A (p.Pro186His)
c.424+1079C>A
c.413C>A (p.Pro138His)
c.*490C>A (n.*490C>A)
Xg.48905314G>ACA412895631SLC35A2c.595C>T (p.Pro199Ser)
c.355-422C>T (n.355-422C>T)
c.427-422C>T (n.427-422C>T)
c.212-55C>T
c.379C>T (p.Pro127Ser)
c.679C>T (p.Pro227Ser)
c.634C>T (p.Pro212Ser)
c.556C>T (p.Pro186Ser)
c.424+1078C>T
c.412C>T (p.Pro138Ser)
c.*489C>T (n.*489C>T)
 gnomAD v4
Xg.48905314G>CCA412895629SLC35A2c.595C>G (p.Pro199Ala)
c.355-422C>G (n.355-422C>G)
c.427-422C>G (n.427-422C>G)
c.212-55C>G
c.379C>G (p.Pro127Ala)
c.679C>G (p.Pro227Ala)
c.634C>G (p.Pro212Ala)
c.556C>G (p.Pro186Ala)
c.424+1078C>G
c.412C>G (p.Pro138Ala)
c.*489C>G (n.*489C>G)
 ClinVar
Xg.48905314G=CA2428428929SLC35A2c.595C= (p.Pro199=)
c.355-422C= (n.355-422C=)
c.427-422C= (n.427-422C=)
c.212-55C=
c.379C= (p.Pro127=)
c.679C= (p.Pro227=)
c.634C= (p.Pro212=)
c.556C= (p.Pro186=)
c.424+1078C=
c.412C= (p.Pro138=)
c.*489C= (n.*489C=)
Xg.48905314G>TCA412895630SLC35A2c.595C>A (p.Pro199Thr)
c.355-422C>A (n.355-422C>A)
c.427-422C>A (n.427-422C>A)
c.212-55C>A
c.379C>A (p.Pro127Thr)
c.679C>A (p.Pro227Thr)
c.634C>A (p.Pro212Thr)
c.556C>A (p.Pro186Thr)
c.424+1078C>A
c.412C>A (p.Pro138Thr)
c.*489C>A (n.*489C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905315G>ACA16608488SLC35A2c.594C>T (p.Asn198=)
c.355-423C>T (n.355-423C>T)
c.427-423C>T (n.427-423C>T)
c.212-56C>T
c.378C>T (p.Asn126=)
c.678C>T (p.Asn226=)
c.633C>T (p.Asn211=)
c.555C>T (p.Asn185=)
c.424+1077C>T
c.411C>T (p.Asn137=)
c.*488C>T (n.*488C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905315G>CCA412895632SLC35A2c.594C>G (p.Asn198Lys)
c.355-423C>G (n.355-423C>G)
c.427-423C>G (n.427-423C>G)
c.212-56C>G
c.378C>G (p.Asn126Lys)
c.678C>G (p.Asn226Lys)
c.633C>G (p.Asn211Lys)
c.555C>G (p.Asn185Lys)
c.424+1077C>G
c.411C>G (p.Asn137Lys)
c.*488C>G (n.*488C>G)
Xg.48905315G=CA2428428930SLC35A2c.594C= (p.Asn198=)
c.355-423C= (n.355-423C=)
c.427-423C= (n.427-423C=)
c.212-56C=
c.378C= (p.Asn126=)
c.678C= (p.Asn226=)
c.633C= (p.Asn211=)
c.555C= (p.Asn185=)
c.424+1077C=
c.411C= (p.Asn137=)
c.*488C= (n.*488C=)
Xg.48905315G>TCA412895633SLC35A2c.594C>A (p.Asn198Lys)
c.355-423C>A (n.355-423C>A)
c.427-423C>A (n.427-423C>A)
c.212-56C>A
c.378C>A (p.Asn126Lys)
c.678C>A (p.Asn226Lys)
c.633C>A (p.Asn211Lys)
c.555C>A (p.Asn185Lys)
c.424+1077C>A
c.411C>A (p.Asn137Lys)
c.*488C>A (n.*488C>A)
Xg.48905316T>ACA412895634SLC35A2c.593A>T (p.Asn198Ile)
c.355-424A>T (n.355-424A>T)
c.427-424A>T (n.427-424A>T)
c.212-57A>T
c.377A>T (p.Asn126Ile)
c.677A>T (p.Asn226Ile)
c.632A>T (p.Asn211Ile)
c.554A>T (p.Asn185Ile)
c.424+1076A>T
c.410A>T (p.Asn137Ile)
c.*487A>T (n.*487A>T)
Xg.48905316T>CCA412895635SLC35A2c.593A>G (p.Asn198Ser)
c.355-424A>G (n.355-424A>G)
c.427-424A>G (n.427-424A>G)
c.212-57A>G
c.377A>G (p.Asn126Ser)
c.677A>G (p.Asn226Ser)
c.632A>G (p.Asn211Ser)
c.554A>G (p.Asn185Ser)
c.424+1076A>G
c.410A>G (p.Asn137Ser)
c.*487A>G (n.*487A>G)
Xg.48905316T>GCA412895636SLC35A2c.593A>C (p.Asn198Thr)
c.355-424A>C (n.355-424A>C)
c.427-424A>C (n.427-424A>C)
c.212-57A>C
c.377A>C (p.Asn126Thr)
c.677A>C (p.Asn226Thr)
c.632A>C (p.Asn211Thr)
c.554A>C (p.Asn185Thr)
c.424+1076A>C
c.410A>C (p.Asn137Thr)
c.*487A>C (n.*487A>C)
Xg.48905317T>ACA412895637SLC35A2c.592A>T (p.Asn198Tyr)
c.355-425A>T (n.355-425A>T)
c.427-425A>T (n.427-425A>T)
c.212-58A>T
c.376A>T (p.Asn126Tyr)
c.676A>T (p.Asn226Tyr)
c.631A>T (p.Asn211Tyr)
c.553A>T (p.Asn185Tyr)
c.424+1075A>T
c.409A>T (p.Asn137Tyr)
c.*486A>T (n.*486A>T)
 dbSNP
Xg.48905317T>CCA412895638SLC35A2c.592A>G (p.Asn198Asp)
c.355-425A>G (n.355-425A>G)
c.427-425A>G (n.427-425A>G)
c.212-58A>G
c.376A>G (p.Asn126Asp)
c.676A>G (p.Asn226Asp)
c.631A>G (p.Asn211Asp)
c.553A>G (p.Asn185Asp)
c.424+1075A>G
c.409A>G (p.Asn137Asp)
c.*486A>G (n.*486A>G)
Xg.48905317T>GCA412895639SLC35A2c.592A>C (p.Asn198His)
c.355-425A>C (n.355-425A>C)
c.427-425A>C (n.427-425A>C)
c.212-58A>C
c.376A>C (p.Asn126His)
c.676A>C (p.Asn226His)
c.631A>C (p.Asn211His)
c.553A>C (p.Asn185His)
c.424+1075A>C
c.409A>C (p.Asn137His)
c.*486A>C (n.*486A>C)
Xg.48905317T=CA2428428931SLC35A2c.592A= (p.Asn198=)
c.355-425A= (n.355-425A=)
c.427-425A= (n.427-425A=)
c.212-58A=
c.376A= (p.Asn126=)
c.676A= (p.Asn226=)
c.631A= (p.Asn211=)
c.553A= (p.Asn185=)
c.424+1075A=
c.409A= (p.Asn137=)
c.*486A= (n.*486A=)
Xg.48905318C>ACA412895640SLC35A2c.591G>T (p.Gln197His)
c.355-426G>T (n.355-426G>T)
c.427-426G>T (n.427-426G>T)
c.212-59G>T
c.375G>T (p.Gln125His)
c.675G>T (p.Gln225His)
c.630G>T (p.Gln210His)
c.552G>T (p.Gln184His)
c.424+1074G>T
c.408G>T (p.Gln136His)
c.*485G>T (n.*485G>T)
 gnomAD v4
Xg.48905318C>GCA412895641SLC35A2c.591G>C (p.Gln197His)
c.355-426G>C (n.355-426G>C)
c.427-426G>C (n.427-426G>C)
c.212-59G>C
c.375G>C (p.Gln125His)
c.675G>C (p.Gln225His)
c.630G>C (p.Gln210His)
c.552G>C (p.Gln184His)
c.424+1074G>C
c.408G>C (p.Gln136His)
c.*485G>C (n.*485G>C)
Xg.48905318C>TCA516360247SLC35A2c.591G>A (p.Gln197=)
c.355-426G>A (n.355-426G>A)
c.427-426G>A (n.427-426G>A)
c.212-59G>A
c.375G>A (p.Gln125=)
c.675G>A (p.Gln225=)
c.630G>A (p.Gln210=)
c.552G>A (p.Gln184=)
c.424+1074G>A
c.408G>A (p.Gln136=)
c.*485G>A (n.*485G>A)
Xg.48905319T>ACA412895644SLC35A2c.590A>T (p.Gln197Leu)
c.355-427A>T (n.355-427A>T)
c.427-427A>T (n.427-427A>T)
c.212-60A>T
c.374A>T (p.Gln125Leu)
c.674A>T (p.Gln225Leu)
c.629A>T (p.Gln210Leu)
c.551A>T (p.Gln184Leu)
c.424+1073A>T
c.407A>T (p.Gln136Leu)
c.*484A>T (n.*484A>T)
Xg.48905319T>CCA412895643SLC35A2c.590A>G (p.Gln197Arg)
c.355-427A>G (n.355-427A>G)
c.427-427A>G (n.427-427A>G)
c.212-60A>G
c.374A>G (p.Gln125Arg)
c.674A>G (p.Gln225Arg)
c.629A>G (p.Gln210Arg)
c.551A>G (p.Gln184Arg)
c.424+1073A>G
c.407A>G (p.Gln136Arg)
c.*484A>G (n.*484A>G)
Xg.48905319T>GCA412895642SLC35A2c.590A>C (p.Gln197Pro)
c.355-427A>C (n.355-427A>C)
c.427-427A>C (n.427-427A>C)
c.212-60A>C
c.374A>C (p.Gln125Pro)
c.674A>C (p.Gln225Pro)
c.629A>C (p.Gln210Pro)
c.551A>C (p.Gln184Pro)
c.424+1073A>C
c.407A>C (p.Gln136Pro)
c.*484A>C (n.*484A>C)
Xg.48905320G>ACA412895645SLC35A2c.589C>T (p.Gln197Ter)
c.355-428C>T (n.355-428C>T)
c.427-428C>T (n.427-428C>T)
c.212-61C>T
c.373C>T (p.Gln125Ter)
c.673C>T (p.Gln225Ter)
c.628C>T (p.Gln210Ter)
c.550C>T (p.Gln184Ter)
c.424+1072C>T
c.406C>T (p.Gln136Ter)
c.*483C>T (n.*483C>T)
Xg.48905320G>CCA412895646SLC35A2c.589C>G (p.Gln197Glu)
c.355-428C>G (n.355-428C>G)
c.427-428C>G (n.427-428C>G)
c.212-61C>G
c.373C>G (p.Gln125Glu)
c.673C>G (p.Gln225Glu)
c.628C>G (p.Gln210Glu)
c.550C>G (p.Gln184Glu)
c.424+1072C>G
c.406C>G (p.Gln136Glu)
c.*483C>G (n.*483C>G)
 dbSNP gnomAD v4 COSMIC
Xg.48905320G=CA2428428932SLC35A2c.589C= (p.Gln197=)
c.355-428C= (n.355-428C=)
c.427-428C= (n.427-428C=)
c.212-61C=
c.373C= (p.Gln125=)
c.673C= (p.Gln225=)
c.628C= (p.Gln210=)
c.550C= (p.Gln184=)
c.424+1072C=
c.406C= (p.Gln136=)
c.*483C= (n.*483C=)
Xg.48905320G>TCA412895647SLC35A2c.589C>A (p.Gln197Lys)
c.355-428C>A (n.355-428C>A)
c.427-428C>A (n.427-428C>A)
c.212-61C>A
c.373C>A (p.Gln125Lys)
c.673C>A (p.Gln225Lys)
c.628C>A (p.Gln210Lys)
c.550C>A (p.Gln184Lys)
c.424+1072C>A
c.406C>A (p.Gln136Lys)
c.*483C>A (n.*483C>A)
Xg.48905321A>CCA412895648SLC35A2c.588T>G (p.Asp196Glu)
c.355-429T>G (n.355-429T>G)
c.427-429T>G (n.427-429T>G)
c.212-62T>G
c.372T>G (p.Asp124Glu)
c.672T>G (p.Asp224Glu)
c.627T>G (p.Asp209Glu)
c.549T>G (p.Asp183Glu)
c.424+1071T>G
c.405T>G (p.Asp135Glu)
c.*482T>G (n.*482T>G)
Xg.48905321A>GCA516360251SLC35A2c.588T>C (p.Asp196=)
c.355-429T>C (n.355-429T>C)
c.427-429T>C (n.427-429T>C)
c.212-62T>C
c.372T>C (p.Asp124=)
c.672T>C (p.Asp224=)
c.627T>C (p.Asp209=)
c.549T>C (p.Asp183=)
c.424+1071T>C
c.405T>C (p.Asp135=)
c.*482T>C (n.*482T>C)
Xg.48905321A>TCA412895649SLC35A2c.588T>A (p.Asp196Glu)
c.355-429T>A (n.355-429T>A)
c.427-429T>A (n.427-429T>A)
c.212-62T>A
c.372T>A (p.Asp124Glu)
c.672T>A (p.Asp224Glu)
c.627T>A (p.Asp209Glu)
c.549T>A (p.Asp183Glu)
c.424+1071T>A
c.405T>A (p.Asp135Glu)
c.*482T>A (n.*482T>A)
Xg.48905322T>ACA412895650SLC35A2c.587A>T (p.Asp196Val)
c.355-430A>T (n.355-430A>T)
c.427-430A>T (n.427-430A>T)
c.212-63A>T
c.371A>T (p.Asp124Val)
c.671A>T (p.Asp224Val)
c.626A>T (p.Asp209Val)
c.548A>T (p.Asp183Val)
c.424+1070A>T
c.404A>T (p.Asp135Val)
c.*481A>T (n.*481A>T)
Xg.48905322T>CCA412895651SLC35A2c.587A>G (p.Asp196Gly)
c.355-430A>G (n.355-430A>G)
c.427-430A>G (n.427-430A>G)
c.212-63A>G
c.371A>G (p.Asp124Gly)
c.671A>G (p.Asp224Gly)
c.626A>G (p.Asp209Gly)
c.548A>G (p.Asp183Gly)
c.424+1070A>G
c.404A>G (p.Asp135Gly)
c.*481A>G (n.*481A>G)
Xg.48905322T>GCA412895652SLC35A2c.587A>C (p.Asp196Ala)
c.355-430A>C (n.355-430A>C)
c.427-430A>C (n.427-430A>C)
c.212-63A>C
c.371A>C (p.Asp124Ala)
c.671A>C (p.Asp224Ala)
c.626A>C (p.Asp209Ala)
c.548A>C (p.Asp183Ala)
c.424+1070A>C
c.404A>C (p.Asp135Ala)
c.*481A>C (n.*481A>C)
Xg.48905323C>ACA412895653SLC35A2c.586G>T (p.Asp196Tyr)
c.355-431G>T (n.355-431G>T)
c.427-431G>T (n.427-431G>T)
c.212-64G>T
c.370G>T (p.Asp124Tyr)
c.670G>T (p.Asp224Tyr)
c.625G>T (p.Asp209Tyr)
c.547G>T (p.Asp183Tyr)
c.424+1069G>T
c.403G>T (p.Asp135Tyr)
c.*480G>T (n.*480G>T)
 gnomAD v4
Xg.48905323C>GCA412895654SLC35A2c.586G>C (p.Asp196His)
c.355-431G>C (n.355-431G>C)
c.427-431G>C (n.427-431G>C)
c.212-64G>C
c.370G>C (p.Asp124His)
c.670G>C (p.Asp224His)
c.625G>C (p.Asp209His)
c.547G>C (p.Asp183His)
c.424+1069G>C
c.403G>C (p.Asp135His)
c.*480G>C (n.*480G>C)
Xg.48905323C>TCA412895655SLC35A2c.586G>A (p.Asp196Asn)
c.355-431G>A (n.355-431G>A)
c.427-431G>A (n.427-431G>A)
c.212-64G>A
c.370G>A (p.Asp124Asn)
c.670G>A (p.Asp224Asn)
c.625G>A (p.Asp209Asn)
c.547G>A (p.Asp183Asn)
c.424+1069G>A
c.403G>A (p.Asp135Asn)
c.*480G>A (n.*480G>A)
Xg.48905324C>ACA516360252SLC35A2c.585G>T (p.Leu195=)
c.355-432G>T (n.355-432G>T)
c.427-432G>T (n.427-432G>T)
c.212-65G>T
c.369G>T (p.Leu123=)
c.669G>T (p.Leu223=)
c.624G>T (p.Leu208=)
c.546G>T (p.Leu182=)
c.424+1068G>T
c.402G>T (p.Leu134=)
c.*479G>T (n.*479G>T)
Xg.48905324C=CA2428428933SLC35A2c.585G= (p.Leu195=)
c.355-432G= (n.355-432G=)
c.427-432G= (n.427-432G=)
c.212-65G=
c.369G= (p.Leu123=)
c.669G= (p.Leu223=)
c.624G= (p.Leu208=)
c.546G= (p.Leu182=)
c.424+1068G=
c.402G= (p.Leu134=)
c.*479G= (n.*479G=)
Xg.48905324C>GCA516360253SLC35A2c.585G>C (p.Leu195=)
c.355-432G>C (n.355-432G>C)
c.427-432G>C (n.427-432G>C)
c.212-65G>C
c.369G>C (p.Leu123=)
c.669G>C (p.Leu223=)
c.624G>C (p.Leu208=)
c.546G>C (p.Leu182=)
c.424+1068G>C
c.402G>C (p.Leu134=)
c.*479G>C (n.*479G>C)
Xg.48905324C>TCA516360254SLC35A2c.585G>A (p.Leu195=)
c.355-432G>A (n.355-432G>A)
c.427-432G>A (n.427-432G>A)
c.212-65G>A
c.369G>A (p.Leu123=)
c.669G>A (p.Leu223=)
c.624G>A (p.Leu208=)
c.546G>A (p.Leu182=)
c.424+1068G>A
c.402G>A (p.Leu134=)
c.*479G>A (n.*479G>A)
 dbSNP
Xg.48905325A=CA2428428934SLC35A2c.584T= (p.Leu195=)
c.355-433T= (n.355-433T=)
c.427-433T= (n.427-433T=)
c.212-66T=
c.368T= (p.Leu123=)
c.668T= (p.Leu223=)
c.623T= (p.Leu208=)
c.545T= (p.Leu182=)
c.424+1067T=
c.401T= (p.Leu134=)
c.*478T= (n.*478T=)
Xg.48905325A>CCA412895656SLC35A2c.584T>G (p.Leu195Arg)
c.355-433T>G (n.355-433T>G)
c.427-433T>G (n.427-433T>G)
c.212-66T>G
c.368T>G (p.Leu123Arg)
c.668T>G (p.Leu223Arg)
c.623T>G (p.Leu208Arg)
c.545T>G (p.Leu182Arg)
c.424+1067T>G
c.401T>G (p.Leu134Arg)
c.*478T>G (n.*478T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905325A>GCA412895657SLC35A2c.584T>C (p.Leu195Pro)
c.355-433T>C (n.355-433T>C)
c.427-433T>C (n.427-433T>C)
c.212-66T>C
c.368T>C (p.Leu123Pro)
c.668T>C (p.Leu223Pro)
c.623T>C (p.Leu208Pro)
c.545T>C (p.Leu182Pro)
c.424+1067T>C
c.401T>C (p.Leu134Pro)
c.*478T>C (n.*478T>C)
Xg.48905325A>TCA412895658SLC35A2c.584T>A (p.Leu195Gln)
c.355-433T>A (n.355-433T>A)
c.427-433T>A (n.427-433T>A)
c.212-66T>A
c.368T>A (p.Leu123Gln)
c.668T>A (p.Leu223Gln)
c.623T>A (p.Leu208Gln)
c.545T>A (p.Leu182Gln)
c.424+1067T>A
c.401T>A (p.Leu134Gln)
c.*478T>A (n.*478T>A)
Xg.48905326G>ACA516360258SLC35A2c.583C>T (p.Leu195=)
c.355-434C>T (n.355-434C>T)
c.427-434C>T (n.427-434C>T)
c.212-67C>T
c.367C>T (p.Leu123=)
c.667C>T (p.Leu223=)
c.622C>T (p.Leu208=)
c.544C>T (p.Leu182=)
c.424+1066C>T
c.400C>T (p.Leu134=)
c.*477C>T (n.*477C>T)
Xg.48905326G>CCA412895659SLC35A2c.583C>G (p.Leu195Val)
c.355-434C>G (n.355-434C>G)
c.427-434C>G (n.427-434C>G)
c.212-67C>G
c.367C>G (p.Leu123Val)
c.667C>G (p.Leu223Val)
c.622C>G (p.Leu208Val)
c.544C>G (p.Leu182Val)
c.424+1066C>G
c.400C>G (p.Leu134Val)
c.*477C>G (n.*477C>G)
Xg.48905326G>TCA412895660SLC35A2c.583C>A (p.Leu195Met)
c.355-434C>A (n.355-434C>A)
c.427-434C>A (n.427-434C>A)
c.212-67C>A
c.367C>A (p.Leu123Met)
c.667C>A (p.Leu223Met)
c.622C>A (p.Leu208Met)
c.544C>A (p.Leu182Met)
c.424+1066C>A
c.400C>A (p.Leu134Met)
c.*477C>A (n.*477C>A)
 gnomAD v4
Xg.48905327T>ACA516360259SLC35A2c.582A>T (p.Pro194=)
c.355-435A>T (n.355-435A>T)
c.427-435A>T (n.427-435A>T)
c.212-68A>T
c.366A>T (p.Pro122=)
c.666A>T (p.Pro222=)
c.621A>T (p.Pro207=)
c.543A>T (p.Pro181=)
c.424+1065A>T
c.399A>T (p.Pro133=)
c.*476A>T (n.*476A>T)
Xg.48905327T>CCA516360260SLC35A2c.582A>G (p.Pro194=)
c.355-435A>G (n.355-435A>G)
c.427-435A>G (n.427-435A>G)
c.212-68A>G
c.366A>G (p.Pro122=)
c.666A>G (p.Pro222=)
c.621A>G (p.Pro207=)
c.543A>G (p.Pro181=)
c.424+1065A>G
c.399A>G (p.Pro133=)
c.*476A>G (n.*476A>G)
Xg.48905327T>GCA516360261SLC35A2c.582A>C (p.Pro194=)
c.355-435A>C (n.355-435A>C)
c.427-435A>C (n.427-435A>C)
c.212-68A>C
c.366A>C (p.Pro122=)
c.666A>C (p.Pro222=)
c.621A>C (p.Pro207=)
c.543A>C (p.Pro181=)
c.424+1065A>C
c.399A>C (p.Pro133=)
c.*476A>C (n.*476A>C)
Xg.48905328G>ACA412895661SLC35A2c.581C>T (p.Pro194Leu)
c.355-436C>T (n.355-436C>T)
c.427-436C>T (n.427-436C>T)
c.212-69C>T
c.365C>T (p.Pro122Leu)
c.665C>T (p.Pro222Leu)
c.620C>T (p.Pro207Leu)
c.542C>T (p.Pro181Leu)
c.424+1064C>T
c.398C>T (p.Pro133Leu)
c.*475C>T (n.*475C>T)
Xg.48905328G>CCA412895662SLC35A2c.581C>G (p.Pro194Arg)
c.355-436C>G (n.355-436C>G)
c.427-436C>G (n.427-436C>G)
c.212-69C>G
c.365C>G (p.Pro122Arg)
c.665C>G (p.Pro222Arg)
c.620C>G (p.Pro207Arg)
c.542C>G (p.Pro181Arg)
c.424+1064C>G
c.398C>G (p.Pro133Arg)
c.*475C>G (n.*475C>G)
Xg.48905328G>TCA412895663SLC35A2c.581C>A (p.Pro194Gln)
c.355-436C>A (n.355-436C>A)
c.427-436C>A (n.427-436C>A)
c.212-69C>A
c.365C>A (p.Pro122Gln)
c.665C>A (p.Pro222Gln)
c.620C>A (p.Pro207Gln)
c.542C>A (p.Pro181Gln)
c.424+1064C>A
c.398C>A (p.Pro133Gln)
c.*475C>A (n.*475C>A)
Xg.48905329G>ACA412895664SLC35A2c.580C>T (p.Pro194Ser)
c.355-437C>T (n.355-437C>T)
c.427-437C>T (n.427-437C>T)
c.212-70C>T
c.364C>T (p.Pro122Ser)
c.664C>T (p.Pro222Ser)
c.619C>T (p.Pro207Ser)
c.541C>T (p.Pro181Ser)
c.424+1063C>T
c.397C>T (p.Pro133Ser)
c.*474C>T (n.*474C>T)
 dbSNP
Xg.48905329G>CCA412895665SLC35A2c.580C>G (p.Pro194Ala)
c.355-437C>G (n.355-437C>G)
c.427-437C>G (n.427-437C>G)
c.212-70C>G
c.364C>G (p.Pro122Ala)
c.664C>G (p.Pro222Ala)
c.619C>G (p.Pro207Ala)
c.541C>G (p.Pro181Ala)
c.424+1063C>G
c.397C>G (p.Pro133Ala)
c.*474C>G (n.*474C>G)
Xg.48905329G=CA2428428935SLC35A2c.580C= (p.Pro194=)
c.355-437C= (n.355-437C=)
c.427-437C= (n.427-437C=)
c.212-70C=
c.364C= (p.Pro122=)
c.664C= (p.Pro222=)
c.619C= (p.Pro207=)
c.541C= (p.Pro181=)
c.424+1063C=
c.397C= (p.Pro133=)
c.*474C= (n.*474C=)
Xg.48905329G>TCA412895666SLC35A2c.580C>A (p.Pro194Thr)
c.355-437C>A (n.355-437C>A)
c.427-437C>A (n.427-437C>A)
c.212-70C>A
c.364C>A (p.Pro122Thr)
c.664C>A (p.Pro222Thr)
c.619C>A (p.Pro207Thr)
c.541C>A (p.Pro181Thr)
c.424+1063C>A
c.397C>A (p.Pro133Thr)
c.*474C>A (n.*474C>A)
 ClinVar dbSNP
Xg.48905330C>ACA516360264SLC35A2c.579G>T (p.Arg193=)
c.355-438G>T (n.355-438G>T)
c.427-438G>T (n.427-438G>T)
c.212-71G>T
c.363G>T (p.Arg121=)
c.663G>T (p.Arg221=)
c.618G>T (p.Arg206=)
c.540G>T (p.Arg180=)
c.424+1062G>T
c.396G>T (p.Arg132=)
c.*473G>T (n.*473G>T)
 COSMIC
Xg.48905330C=CA2428428936SLC35A2c.579G= (p.Arg193=)
c.355-438G= (n.355-438G=)
c.427-438G= (n.427-438G=)
c.212-71G=
c.363G= (p.Arg121=)
c.663G= (p.Arg221=)
c.618G= (p.Arg206=)
c.540G= (p.Arg180=)
c.424+1062G=
c.396G= (p.Arg132=)
c.*473G= (n.*473G=)
Xg.48905330C>GCA516360266SLC35A2c.579G>C (p.Arg193=)
c.355-438G>C (n.355-438G>C)
c.427-438G>C (n.427-438G>C)
c.212-71G>C
c.363G>C (p.Arg121=)
c.663G>C (p.Arg221=)
c.618G>C (p.Arg206=)
c.540G>C (p.Arg180=)
c.424+1062G>C
c.396G>C (p.Arg132=)
c.*473G>C (n.*473G>C)
Xg.48905330C>TCA516360267SLC35A2c.579G>A (p.Arg193=)
c.355-438G>A (n.355-438G>A)
c.427-438G>A (n.427-438G>A)
c.212-71G>A
c.363G>A (p.Arg121=)
c.663G>A (p.Arg221=)
c.618G>A (p.Arg206=)
c.540G>A (p.Arg180=)
c.424+1062G>A
c.396G>A (p.Arg132=)
c.*473G>A (n.*473G>A)
 ClinVar dbSNP
Xg.48905331C>ACA412895667SLC35A2c.578G>T (p.Arg193Leu)
c.355-439G>T (n.355-439G>T)
c.427-439G>T (n.427-439G>T)
c.212-72G>T
c.362G>T (p.Arg121Leu)
c.662G>T (p.Arg221Leu)
c.617G>T (p.Arg206Leu)
c.539G>T (p.Arg180Leu)
c.424+1061G>T
c.395G>T (p.Arg132Leu)
c.*472G>T (n.*472G>T)
 gnomAD v4
Xg.48905331C=CA2428428937SLC35A2c.578G= (p.Arg193=)
c.355-439G= (n.355-439G=)
c.427-439G= (n.427-439G=)
c.212-72G=
c.362G= (p.Arg121=)
c.662G= (p.Arg221=)
c.617G= (p.Arg206=)
c.539G= (p.Arg180=)
c.424+1061G=
c.395G= (p.Arg132=)
c.*472G= (n.*472G=)
Xg.48905331C>GCA412895668SLC35A2c.578G>C (p.Arg193Pro)
c.355-439G>C (n.355-439G>C)
c.427-439G>C (n.427-439G>C)
c.212-72G>C
c.362G>C (p.Arg121Pro)
c.662G>C (p.Arg221Pro)
c.617G>C (p.Arg206Pro)
c.539G>C (p.Arg180Pro)
c.424+1061G>C
c.395G>C (p.Arg132Pro)
c.*472G>C (n.*472G>C)
 gnomAD v4
Xg.48905331C>TCA412895669SLC35A2c.578G>A (p.Arg193Gln)
c.355-439G>A (n.355-439G>A)
c.427-439G>A (n.427-439G>A)
c.212-72G>A
c.362G>A (p.Arg121Gln)
c.662G>A (p.Arg221Gln)
c.617G>A (p.Arg206Gln)
c.539G>A (p.Arg180Gln)
c.424+1061G>A
c.395G>A (p.Arg132Gln)
c.*472G>A (n.*472G>A)
 ClinVar dbSNP gnomAD v4
Xg.48905332G>ACA412895670SLC35A2c.577C>T (p.Arg193Trp)
c.355-440C>T (n.355-440C>T)
c.427-440C>T (n.427-440C>T)
c.212-73C>T
c.361C>T (p.Arg121Trp)
c.661C>T (p.Arg221Trp)
c.616C>T (p.Arg206Trp)
c.538C>T (p.Arg180Trp)
c.424+1060C>T
c.394C>T (p.Arg132Trp)
c.*471C>T (n.*471C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905332G>CCA412895671SLC35A2c.577C>G (p.Arg193Gly)
c.355-440C>G (n.355-440C>G)
c.427-440C>G (n.427-440C>G)
c.212-73C>G
c.361C>G (p.Arg121Gly)
c.661C>G (p.Arg221Gly)
c.616C>G (p.Arg206Gly)
c.538C>G (p.Arg180Gly)
c.424+1060C>G
c.394C>G (p.Arg132Gly)
c.*471C>G (n.*471C>G)
Xg.48905332G=CA2428428938SLC35A2c.577C= (p.Arg193=)
c.355-440C= (n.355-440C=)
c.427-440C= (n.427-440C=)
c.212-73C=
c.361C= (p.Arg121=)
c.661C= (p.Arg221=)
c.616C= (p.Arg206=)
c.538C= (p.Arg180=)
c.424+1060C=
c.394C= (p.Arg132=)
c.*471C= (n.*471C=)
Xg.48905332G>TCA516360269SLC35A2c.577C>A (p.Arg193=)
c.355-440C>A (n.355-440C>A)
c.427-440C>A (n.427-440C>A)
c.212-73C>A
c.361C>A (p.Arg121=)
c.661C>A (p.Arg221=)
c.616C>A (p.Arg206=)
c.538C>A (p.Arg180=)
c.424+1060C>A
c.394C>A (p.Arg132=)
c.*471C>A (n.*471C>A)
 ClinVar dbSNP gnomAD v4
Xg.48905333T>ACA516360270SLC35A2c.576A>T (p.Pro192=)
c.355-441A>T (n.355-441A>T)
c.427-441A>T (n.427-441A>T)
c.212-74A>T
c.360A>T (p.Pro120=)
c.660A>T (p.Pro220=)
c.615A>T (p.Pro205=)
c.537A>T (p.Pro179=)
c.424+1059A>T
c.393A>T (p.Pro131=)
c.*470A>T (n.*470A>T)
Xg.48905333T>CCA516360271SLC35A2c.576A>G (p.Pro192=)
c.355-441A>G (n.355-441A>G)
c.427-441A>G (n.427-441A>G)
c.212-74A>G
c.360A>G (p.Pro120=)
c.660A>G (p.Pro220=)
c.615A>G (p.Pro205=)
c.537A>G (p.Pro179=)
c.424+1059A>G
c.393A>G (p.Pro131=)
c.*470A>G (n.*470A>G)
Xg.48905333T>GCA10406111SLC35A2c.576A>C (p.Pro192=)
c.355-441A>C (n.355-441A>C)
c.427-441A>C (n.427-441A>C)
c.212-74A>C
c.360A>C (p.Pro120=)
c.660A>C (p.Pro220=)
c.615A>C (p.Pro205=)
c.537A>C (p.Pro179=)
c.424+1059A>C
c.393A>C (p.Pro131=)
c.*470A>C (n.*470A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905333T=CA2428428939SLC35A2c.576A= (p.Pro192=)
c.355-441A= (n.355-441A=)
c.427-441A= (n.427-441A=)
c.212-74A=
c.360A= (p.Pro120=)
c.660A= (p.Pro220=)
c.615A= (p.Pro205=)
c.537A= (p.Pro179=)
c.424+1059A=
c.393A= (p.Pro131=)
c.*470A= (n.*470A=)
Xg.48905334G>ACA412895674SLC35A2c.575C>T (p.Pro192Leu)
c.355-442C>T (n.355-442C>T)
c.427-442C>T (n.427-442C>T)
c.212-75C>T
c.359C>T (p.Pro120Leu)
c.659C>T (p.Pro220Leu)
c.614C>T (p.Pro205Leu)
c.536C>T (p.Pro179Leu)
c.424+1058C>T
c.392C>T (p.Pro131Leu)
c.*469C>T (n.*469C>T)
 gnomAD v4
Xg.48905334G>CCA412895673SLC35A2c.575C>G (p.Pro192Arg)
c.355-442C>G (n.355-442C>G)
c.427-442C>G (n.427-442C>G)
c.212-75C>G
c.359C>G (p.Pro120Arg)
c.659C>G (p.Pro220Arg)
c.614C>G (p.Pro205Arg)
c.536C>G (p.Pro179Arg)
c.424+1058C>G
c.392C>G (p.Pro131Arg)
c.*469C>G (n.*469C>G)
Xg.48905334G>TCA412895672SLC35A2c.575C>A (p.Pro192Gln)
c.355-442C>A (n.355-442C>A)
c.427-442C>A (n.427-442C>A)
c.212-75C>A
c.359C>A (p.Pro120Gln)
c.659C>A (p.Pro220Gln)
c.614C>A (p.Pro205Gln)
c.536C>A (p.Pro179Gln)
c.424+1058C>A
c.392C>A (p.Pro131Gln)
c.*469C>A (n.*469C>A)
 gnomAD v4
Xg.48905335G>ACA412895676SLC35A2c.574C>T (p.Pro192Ser)
c.355-443C>T (n.355-443C>T)
c.427-443C>T (n.427-443C>T)
c.212-76C>T
c.358C>T (p.Pro120Ser)
c.658C>T (p.Pro220Ser)
c.613C>T (p.Pro205Ser)
c.535C>T (p.Pro179Ser)
c.424+1057C>T
c.391C>T (p.Pro131Ser)
c.*468C>T (n.*468C>T)
Xg.48905335G>CCA412895675SLC35A2c.574C>G (p.Pro192Ala)
c.355-443C>G (n.355-443C>G)
c.427-443C>G (n.427-443C>G)
c.212-76C>G
c.358C>G (p.Pro120Ala)
c.658C>G (p.Pro220Ala)
c.613C>G (p.Pro205Ala)
c.535C>G (p.Pro179Ala)
c.424+1057C>G
c.391C>G (p.Pro131Ala)
c.*468C>G (n.*468C>G)
Xg.48905335G>TCA412895677SLC35A2c.574C>A (p.Pro192Thr)
c.355-443C>A (n.355-443C>A)
c.427-443C>A (n.427-443C>A)
c.212-76C>A
c.358C>A (p.Pro120Thr)
c.658C>A (p.Pro220Thr)
c.613C>A (p.Pro205Thr)
c.535C>A (p.Pro179Thr)
c.424+1057C>A
c.391C>A (p.Pro131Thr)
c.*468C>A (n.*468C>A)
 gnomAD v4
Xg.48905336G>ACA516360273SLC35A2c.573C>T (p.Gly191=)
c.355-444C>T (n.355-444C>T)
c.427-444C>T (n.427-444C>T)
c.212-77C>T
c.357C>T (p.Gly119=)
c.657C>T (p.Gly219=)
c.612C>T (p.Gly204=)
c.534C>T (p.Gly178=)
c.424+1056C>T
c.390C>T (p.Gly130=)
c.*467C>T (n.*467C>T)
 gnomAD v4
Xg.48905336G>CCA516360274SLC35A2c.573C>G (p.Gly191=)
c.355-444C>G (n.355-444C>G)
c.427-444C>G (n.427-444C>G)
c.212-77C>G
c.357C>G (p.Gly119=)
c.657C>G (p.Gly219=)
c.612C>G (p.Gly204=)
c.534C>G (p.Gly178=)
c.424+1056C>G
c.390C>G (p.Gly130=)
c.*467C>G (n.*467C>G)
Xg.48905336G>TCA516360275SLC35A2c.573C>A (p.Gly191=)
c.355-444C>A (n.355-444C>A)
c.427-444C>A (n.427-444C>A)
c.212-77C>A
c.357C>A (p.Gly119=)
c.657C>A (p.Gly219=)
c.612C>A (p.Gly204=)
c.534C>A (p.Gly178=)
c.424+1056C>A
c.390C>A (p.Gly130=)
c.*467C>A (n.*467C>A)
Xg.48905340_48905361delCA2695233840SLC35A2c.552_573del (p.Gln185HisfsTer?)
c.355-465_355-444del (n.355-465_355-444del)
c.427-465_427-444del (n.427-465_427-444del)
c.212-98_212-77del
c.336_357del (p.Gln113HisfsTer?)
c.636_657del (p.Gln213HisfsTer?)
c.591_612del (p.Gln198HisfsTer?)
c.513_534del (p.Gln172HisfsTer?)
c.424+1035_424+1056del
c.369_390del (p.Gln124HisfsTer?)
c.*446_*467del (n.*446_*467del)
Xg.48905337C>ACA412895678SLC35A2c.572G>T (p.Gly191Val)
c.355-445G>T (n.355-445G>T)
c.427-445G>T (n.427-445G>T)
c.212-78G>T
c.356G>T (p.Gly119Val)
c.656G>T (p.Gly219Val)
c.611G>T (p.Gly204Val)
c.533G>T (p.Gly178Val)
c.424+1055G>T
c.389G>T (p.Gly130Val)
c.*466G>T (n.*466G>T)
Xg.48905337C=CA2428428940SLC35A2c.572G= (p.Gly191=)
c.355-445G= (n.355-445G=)
c.427-445G= (n.427-445G=)
c.212-78G=
c.356G= (p.Gly119=)
c.656G= (p.Gly219=)
c.611G= (p.Gly204=)
c.533G= (p.Gly178=)
c.424+1055G=
c.389G= (p.Gly130=)
c.*466G= (n.*466G=)
Xg.48905337C>GCA10406112SLC35A2c.572G>C (p.Gly191Ala)
c.355-445G>C (n.355-445G>C)
c.427-445G>C (n.427-445G>C)
c.212-78G>C
c.356G>C (p.Gly119Ala)
c.656G>C (p.Gly219Ala)
c.611G>C (p.Gly204Ala)
c.533G>C (p.Gly178Ala)
c.424+1055G>C
c.389G>C (p.Gly130Ala)
c.*466G>C (n.*466G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905337C>TCA412895679SLC35A2c.572G>A (p.Gly191Asp)
c.355-445G>A (n.355-445G>A)
c.427-445G>A (n.427-445G>A)
c.212-78G>A
c.356G>A (p.Gly119Asp)
c.656G>A (p.Gly219Asp)
c.611G>A (p.Gly204Asp)
c.533G>A (p.Gly178Asp)
c.424+1055G>A
c.389G>A (p.Gly130Asp)
c.*466G>A (n.*466G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905338C>ACA412895680SLC35A2c.571G>T (p.Gly191Cys)
c.355-446G>T (n.355-446G>T)
c.427-446G>T (n.427-446G>T)
c.212-79G>T
c.355G>T (p.Gly119Cys)
c.655G>T (p.Gly219Cys)
c.610G>T (p.Gly204Cys)
c.532G>T (p.Gly178Cys)
c.424+1054G>T
c.388G>T (p.Gly130Cys)
c.*465G>T (n.*465G>T)
Xg.48905338C=CA2428428941SLC35A2c.571G= (p.Gly191=)
c.355-446G= (n.355-446G=)
c.427-446G= (n.427-446G=)
c.212-79G=
c.355G= (p.Gly119=)
c.655G= (p.Gly219=)
c.610G= (p.Gly204=)
c.532G= (p.Gly178=)
c.424+1054G=
c.388G= (p.Gly130=)
c.*465G= (n.*465G=)
Xg.48905338C>GCA412895681SLC35A2c.571G>C (p.Gly191Arg)
c.355-446G>C (n.355-446G>C)
c.427-446G>C (n.427-446G>C)
c.212-79G>C
c.355G>C (p.Gly119Arg)
c.655G>C (p.Gly219Arg)
c.610G>C (p.Gly204Arg)
c.532G>C (p.Gly178Arg)
c.424+1054G>C
c.388G>C (p.Gly130Arg)
c.*465G>C (n.*465G>C)
Xg.48905338C>TCA10406113SLC35A2c.571G>A (p.Gly191Ser)
c.355-446G>A (n.355-446G>A)
c.427-446G>A (n.427-446G>A)
c.212-79G>A
c.355G>A (p.Gly119Ser)
c.655G>A (p.Gly219Ser)
c.610G>A (p.Gly204Ser)
c.532G>A (p.Gly178Ser)
c.424+1054G>A
c.388G>A (p.Gly130Ser)
c.*465G>A (n.*465G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905339T>ACA516360277SLC35A2c.570A>T (p.Gly190=)
c.355-447A>T (n.355-447A>T)
c.427-447A>T (n.427-447A>T)
c.212-80A>T
c.354A>T (p.Gly118=)
c.654A>T (p.Gly218=)
c.609A>T (p.Gly203=)
c.531A>T (p.Gly177=)
c.424+1053A>T
c.387A>T (p.Gly129=)
c.*464A>T (n.*464A>T)
Xg.48905339T>CCA516360278SLC35A2c.570A>G (p.Gly190=)
c.355-447A>G (n.355-447A>G)
c.427-447A>G (n.427-447A>G)
c.212-80A>G
c.354A>G (p.Gly118=)
c.654A>G (p.Gly218=)
c.609A>G (p.Gly203=)
c.531A>G (p.Gly177=)
c.424+1053A>G
c.387A>G (p.Gly129=)
c.*464A>G (n.*464A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905339T>GCA516360279SLC35A2c.570A>C (p.Gly190=)
c.355-447A>C (n.355-447A>C)
c.427-447A>C (n.427-447A>C)
c.212-80A>C
c.354A>C (p.Gly118=)
c.654A>C (p.Gly218=)
c.609A>C (p.Gly203=)
c.531A>C (p.Gly177=)
c.424+1053A>C
c.387A>C (p.Gly129=)
c.*464A>C (n.*464A>C)
Xg.48905339T=CA2428428942SLC35A2c.570A= (p.Gly190=)
c.355-447A= (n.355-447A=)
c.427-447A= (n.427-447A=)
c.212-80A=
c.354A= (p.Gly118=)
c.654A= (p.Gly218=)
c.609A= (p.Gly203=)
c.531A= (p.Gly177=)
c.424+1053A=
c.387A= (p.Gly129=)
c.*464A= (n.*464A=)
Xg.48905340C>ACA412895682SLC35A2c.569G>T (p.Gly190Val)
c.355-448G>T (n.355-448G>T)
c.427-448G>T (n.427-448G>T)
c.212-81G>T
c.353G>T (p.Gly118Val)
c.653G>T (p.Gly218Val)
c.608G>T (p.Gly203Val)
c.530G>T (p.Gly177Val)
c.424+1052G>T
c.386G>T (p.Gly129Val)
c.*463G>T (n.*463G>T)
Xg.48905340C>GCA412895683SLC35A2c.569G>C (p.Gly190Ala)
c.355-448G>C (n.355-448G>C)
c.427-448G>C (n.427-448G>C)
c.212-81G>C
c.353G>C (p.Gly118Ala)
c.653G>C (p.Gly218Ala)
c.608G>C (p.Gly203Ala)
c.530G>C (p.Gly177Ala)
c.424+1052G>C
c.386G>C (p.Gly129Ala)
c.*463G>C (n.*463G>C)
Xg.48905340C>TCA412895684SLC35A2c.569G>A (p.Gly190Glu)
c.355-448G>A (n.355-448G>A)
c.427-448G>A (n.427-448G>A)
c.212-81G>A
c.353G>A (p.Gly118Glu)
c.653G>A (p.Gly218Glu)
c.608G>A (p.Gly203Glu)
c.530G>A (p.Gly177Glu)
c.424+1052G>A
c.386G>A (p.Gly129Glu)
c.*463G>A (n.*463G>A)
Xg.48905344dupCA2695233841SLC35A2c.569dup (p.Gly191ArgfsTer?)
c.355-448dup (n.355-448dup)
c.427-448dup (n.427-448dup)
c.212-81dup
c.353dup (p.Gly119ArgfsTer?)
c.653dup (p.Gly219ArgfsTer?)
c.608dup (p.Gly204ArgfsTer?)
c.530dup (p.Gly178ArgfsTer?)
c.424+1052dup
c.386dup (p.Gly130ArgfsTer?)
c.*463dup (n.*463dup)
Xg.48905344delCA2820821199SLC35A2c.569del (p.Gly190GlufsTer?)
c.355-448del (n.355-448del)
c.427-448del (n.427-448del)
c.212-81del
c.353del (p.Gly118GlufsTer?)
c.653del (p.Gly218GlufsTer?)
c.608del (p.Gly203GlufsTer?)
c.530del (p.Gly177GlufsTer?)
c.424+1052del
c.386del (p.Gly129GlufsTer?)
c.*463del (n.*463del)
Xg.48905341C>ACA412895685SLC35A2c.568G>T (p.Gly190Ter)
c.355-449G>T (n.355-449G>T)
c.427-449G>T (n.427-449G>T)
c.212-82G>T
c.352G>T (p.Gly118Ter)
c.652G>T (p.Gly218Ter)
c.607G>T (p.Gly203Ter)
c.529G>T (p.Gly177Ter)
c.424+1051G>T
c.385G>T (p.Gly129Ter)
c.*462G>T (n.*462G>T)
Xg.48905341C=CA2428428943SLC35A2c.568G= (p.Gly190=)
c.355-449G= (n.355-449G=)
c.427-449G= (n.427-449G=)
c.212-82G=
c.352G= (p.Gly118=)
c.652G= (p.Gly218=)
c.607G= (p.Gly203=)
c.529G= (p.Gly177=)
c.424+1051G=
c.385G= (p.Gly129=)
c.*462G= (n.*462G=)
Xg.48905341C>GCA412895686SLC35A2c.568G>C (p.Gly190Arg)
c.355-449G>C (n.355-449G>C)
c.427-449G>C (n.427-449G>C)
c.212-82G>C
c.352G>C (p.Gly118Arg)
c.652G>C (p.Gly218Arg)
c.607G>C (p.Gly203Arg)
c.529G>C (p.Gly177Arg)
c.424+1051G>C
c.385G>C (p.Gly129Arg)
c.*462G>C (n.*462G>C)
Xg.48905341C>TCA412895687SLC35A2c.568G>A (p.Gly190Arg)
c.355-449G>A (n.355-449G>A)
c.427-449G>A (n.427-449G>A)
c.212-82G>A
c.352G>A (p.Gly118Arg)
c.652G>A (p.Gly218Arg)
c.607G>A (p.Gly203Arg)
c.529G>A (p.Gly177Arg)
c.424+1051G>A
c.385G>A (p.Gly129Arg)
c.*462G>A (n.*462G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905342C>ACA516360281SLC35A2c.567G>T (p.Gly189=)
c.355-450G>T (n.355-450G>T)
c.427-450G>T (n.427-450G>T)
c.212-83G>T
c.351G>T (p.Gly117=)
c.651G>T (p.Gly217=)
c.606G>T (p.Gly202=)
c.528G>T (p.Gly176=)
c.424+1050G>T
c.384G>T (p.Gly128=)
c.*461G>T (n.*461G>T)
Xg.48905342C=CA2428428944SLC35A2c.567G= (p.Gly189=)
c.355-450G= (n.355-450G=)
c.427-450G= (n.427-450G=)
c.212-83G=
c.351G= (p.Gly117=)
c.651G= (p.Gly217=)
c.606G= (p.Gly202=)
c.528G= (p.Gly176=)
c.424+1050G=
c.384G= (p.Gly128=)
c.*461G= (n.*461G=)
Xg.48905342C>GCA516360282SLC35A2c.567G>C (p.Gly189=)
c.355-450G>C (n.355-450G>C)
c.427-450G>C (n.427-450G>C)
c.212-83G>C
c.351G>C (p.Gly117=)
c.651G>C (p.Gly217=)
c.606G>C (p.Gly202=)
c.528G>C (p.Gly176=)
c.424+1050G>C
c.384G>C (p.Gly128=)
c.*461G>C (n.*461G>C)
Xg.48905342C>TCA10406114SLC35A2c.567G>A (p.Gly189=)
c.355-450G>A (n.355-450G>A)
c.427-450G>A (n.427-450G>A)
c.212-83G>A
c.351G>A (p.Gly117=)
c.651G>A (p.Gly217=)
c.606G>A (p.Gly202=)
c.528G>A (p.Gly176=)
c.424+1050G>A
c.384G>A (p.Gly128=)
c.*461G>A (n.*461G>A)
 dbSNP ExAC gnomAD v2
Xg.48905343C>ACA412895688SLC35A2c.566G>T (p.Gly189Val)
c.355-451G>T (n.355-451G>T)
c.427-451G>T (n.427-451G>T)
c.212-84G>T
c.350G>T (p.Gly117Val)
c.650G>T (p.Gly217Val)
c.605G>T (p.Gly202Val)
c.527G>T (p.Gly176Val)
c.424+1049G>T
c.383G>T (p.Gly128Val)
c.*460G>T (n.*460G>T)
Xg.48905343C=CA2428428945SLC35A2c.566G= (p.Gly189=)
c.355-451G= (n.355-451G=)
c.427-451G= (n.427-451G=)
c.212-84G=
c.350G= (p.Gly117=)
c.650G= (p.Gly217=)
c.605G= (p.Gly202=)
c.527G= (p.Gly176=)
c.424+1049G=
c.383G= (p.Gly128=)
c.*460G= (n.*460G=)
Xg.48905343C>GCA412895689SLC35A2c.566G>C (p.Gly189Ala)
c.355-451G>C (n.355-451G>C)
c.427-451G>C (n.427-451G>C)
c.212-84G>C
c.350G>C (p.Gly117Ala)
c.650G>C (p.Gly217Ala)
c.605G>C (p.Gly202Ala)
c.527G>C (p.Gly176Ala)
c.424+1049G>C
c.383G>C (p.Gly128Ala)
c.*460G>C (n.*460G>C)
Xg.48905343C>TCA10406115SLC35A2c.566G>A (p.Gly189Glu)
c.355-451G>A (n.355-451G>A)
c.427-451G>A (n.427-451G>A)
c.212-84G>A
c.350G>A (p.Gly117Glu)
c.650G>A (p.Gly217Glu)
c.605G>A (p.Gly202Glu)
c.527G>A (p.Gly176Glu)
c.424+1049G>A
c.383G>A (p.Gly128Glu)
c.*460G>A (n.*460G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905344C>ACA412895690SLC35A2c.565G>T (p.Gly189Trp)
c.355-452G>T (n.355-452G>T)
c.427-452G>T (n.427-452G>T)
c.212-85G>T
c.349G>T (p.Gly117Trp)
c.649G>T (p.Gly217Trp)
c.604G>T (p.Gly202Trp)
c.526G>T (p.Gly176Trp)
c.424+1048G>T
c.382G>T (p.Gly128Trp)
c.*459G>T (n.*459G>T)
 gnomAD v4
Xg.48905344C=CA2428428946SLC35A2c.565G= (p.Gly189=)
c.355-452G= (n.355-452G=)
c.427-452G= (n.427-452G=)
c.212-85G=
c.349G= (p.Gly117=)
c.649G= (p.Gly217=)
c.604G= (p.Gly202=)
c.526G= (p.Gly176=)
c.424+1048G=
c.382G= (p.Gly128=)
c.*459G= (n.*459G=)
Xg.48905344C>GCA10406116SLC35A2c.565G>C (p.Gly189Arg)
c.355-452G>C (n.355-452G>C)
c.427-452G>C (n.427-452G>C)
c.212-85G>C
c.349G>C (p.Gly117Arg)
c.649G>C (p.Gly217Arg)
c.604G>C (p.Gly202Arg)
c.526G>C (p.Gly176Arg)
c.424+1048G>C
c.382G>C (p.Gly128Arg)
c.*459G>C (n.*459G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905344C>TCA412895691SLC35A2c.565G>A (p.Gly189Arg)
c.355-452G>A (n.355-452G>A)
c.427-452G>A (n.427-452G>A)
c.212-85G>A
c.349G>A (p.Gly117Arg)
c.649G>A (p.Gly217Arg)
c.604G>A (p.Gly202Arg)
c.526G>A (p.Gly176Arg)
c.424+1048G>A
c.382G>A (p.Gly128Arg)
c.*459G>A (n.*459G>A)
Xg.48905345A=CA2428428947SLC35A2c.564T= (p.Gly188=)
c.355-453T= (n.355-453T=)
c.427-453T= (n.427-453T=)
c.212-86T=
c.348T= (p.Gly116=)
c.648T= (p.Gly216=)
c.603T= (p.Gly201=)
c.525T= (p.Gly175=)
c.424+1047T=
c.381T= (p.Gly127=)
c.*458T= (n.*458T=)
Xg.48905345A>CCA516360286SLC35A2c.564T>G (p.Gly188=)
c.355-453T>G (n.355-453T>G)
c.427-453T>G (n.427-453T>G)
c.212-86T>G
c.348T>G (p.Gly116=)
c.648T>G (p.Gly216=)
c.603T>G (p.Gly201=)
c.525T>G (p.Gly175=)
c.424+1047T>G
c.381T>G (p.Gly127=)
c.*458T>G (n.*458T>G)
 dbSNP gnomAD v2
Xg.48905345A>GCA516360287SLC35A2c.564T>C (p.Gly188=)
c.355-453T>C (n.355-453T>C)
c.427-453T>C (n.427-453T>C)
c.212-86T>C
c.348T>C (p.Gly116=)
c.648T>C (p.Gly216=)
c.603T>C (p.Gly201=)
c.525T>C (p.Gly175=)
c.424+1047T>C
c.381T>C (p.Gly127=)
c.*458T>C (n.*458T>C)
Xg.48905345A>TCA516360288SLC35A2c.564T>A (p.Gly188=)
c.355-453T>A (n.355-453T>A)
c.427-453T>A (n.427-453T>A)
c.212-86T>A
c.348T>A (p.Gly116=)
c.648T>A (p.Gly216=)
c.603T>A (p.Gly201=)
c.525T>A (p.Gly175=)
c.424+1047T>A
c.381T>A (p.Gly127=)
c.*458T>A (n.*458T>A)
Xg.48905346C>ACA412895692SLC35A2c.563G>T (p.Gly188Val)
c.355-454G>T (n.355-454G>T)
c.427-454G>T (n.427-454G>T)
c.212-87G>T
c.347G>T (p.Gly116Val)
c.647G>T (p.Gly216Val)
c.602G>T (p.Gly201Val)
c.524G>T (p.Gly175Val)
c.424+1046G>T
c.380G>T (p.Gly127Val)
c.*457G>T (n.*457G>T)
Xg.48905346C=CA2428428948SLC35A2c.563G= (p.Gly188=)
c.355-454G= (n.355-454G=)
c.427-454G= (n.427-454G=)
c.212-87G=
c.347G= (p.Gly116=)
c.647G= (p.Gly216=)
c.602G= (p.Gly201=)
c.524G= (p.Gly175=)
c.424+1046G=
c.380G= (p.Gly127=)
c.*457G= (n.*457G=)
Xg.48905346C>GCA412895693SLC35A2c.563G>C (p.Gly188Ala)
c.355-454G>C (n.355-454G>C)
c.427-454G>C (n.427-454G>C)
c.212-87G>C
c.347G>C (p.Gly116Ala)
c.647G>C (p.Gly216Ala)
c.602G>C (p.Gly201Ala)
c.524G>C (p.Gly175Ala)
c.424+1046G>C
c.380G>C (p.Gly127Ala)
c.*457G>C (n.*457G>C)
Xg.48905346C>TCA10406117SLC35A2c.563G>A (p.Gly188Asp)
c.355-454G>A (n.355-454G>A)
c.427-454G>A (n.427-454G>A)
c.212-87G>A
c.347G>A (p.Gly116Asp)
c.647G>A (p.Gly216Asp)
c.602G>A (p.Gly201Asp)
c.524G>A (p.Gly175Asp)
c.424+1046G>A
c.380G>A (p.Gly127Asp)
c.*457G>A (n.*457G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905347C>ACA412895696SLC35A2c.562G>T (p.Gly188Cys)
c.355-455G>T (n.355-455G>T)
c.427-455G>T (n.427-455G>T)
c.212-88G>T
c.346G>T (p.Gly116Cys)
c.646G>T (p.Gly216Cys)
c.601G>T (p.Gly201Cys)
c.523G>T (p.Gly175Cys)
c.424+1045G>T
c.379G>T (p.Gly127Cys)
c.*456G>T (n.*456G>T)
Xg.48905347C=CA2428428949SLC35A2c.562G= (p.Gly188=)
c.355-455G= (n.355-455G=)
c.427-455G= (n.427-455G=)
c.212-88G=
c.346G= (p.Gly116=)
c.646G= (p.Gly216=)
c.601G= (p.Gly201=)
c.523G= (p.Gly175=)
c.424+1045G=
c.379G= (p.Gly127=)
c.*456G= (n.*456G=)
Xg.48905347C>GCA329098965SLC35A2c.562G>C (p.Gly188Arg)
c.355-455G>C (n.355-455G>C)
c.427-455G>C (n.427-455G>C)
c.212-88G>C
c.346G>C (p.Gly116Arg)
c.646G>C (p.Gly216Arg)
c.601G>C (p.Gly201Arg)
c.523G>C (p.Gly175Arg)
c.424+1045G>C
c.379G>C (p.Gly127Arg)
c.*456G>C (n.*456G>C)
 dbSNP
Xg.48905347C>TCA412895697SLC35A2c.562G>A (p.Gly188Ser)
c.355-455G>A (n.355-455G>A)
c.427-455G>A (n.427-455G>A)
c.212-88G>A
c.346G>A (p.Gly116Ser)
c.646G>A (p.Gly216Ser)
c.601G>A (p.Gly201Ser)
c.523G>A (p.Gly175Ser)
c.424+1045G>A
c.379G>A (p.Gly127Ser)
c.*456G>A (n.*456G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905348G>ACA10406118SLC35A2c.561C>T (p.Ala187=)
c.355-456C>T (n.355-456C>T)
c.427-456C>T (n.427-456C>T)
c.212-89C>T
c.345C>T (p.Ala115=)
c.645C>T (p.Ala215=)
c.600C>T (p.Ala200=)
c.522C>T (p.Ala174=)
c.424+1044C>T
c.378C>T (p.Ala126=)
c.*455C>T (n.*455C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905348G>CCA516360292SLC35A2c.561C>G (p.Ala187=)
c.355-456C>G (n.355-456C>G)
c.427-456C>G (n.427-456C>G)
c.212-89C>G
c.345C>G (p.Ala115=)
c.645C>G (p.Ala215=)
c.600C>G (p.Ala200=)
c.522C>G (p.Ala174=)
c.424+1044C>G
c.378C>G (p.Ala126=)
c.*455C>G (n.*455C>G)
Xg.48905348G=CA2428428950SLC35A2c.561C= (p.Ala187=)
c.355-456C= (n.355-456C=)
c.427-456C= (n.427-456C=)
c.212-89C=
c.345C= (p.Ala115=)
c.645C= (p.Ala215=)
c.600C= (p.Ala200=)
c.522C= (p.Ala174=)
c.424+1044C=
c.378C= (p.Ala126=)
c.*455C= (n.*455C=)
Xg.48905348G>TCA516360293SLC35A2c.561C>A (p.Ala187=)
c.355-456C>A (n.355-456C>A)
c.427-456C>A (n.427-456C>A)
c.212-89C>A
c.345C>A (p.Ala115=)
c.645C>A (p.Ala215=)
c.600C>A (p.Ala200=)
c.522C>A (p.Ala174=)
c.424+1044C>A
c.378C>A (p.Ala126=)
c.*455C>A (n.*455C>A)
 gnomAD v4
Xg.48905349G>ACA412895699SLC35A2c.560C>T (p.Ala187Val)
c.355-457C>T (n.355-457C>T)
c.427-457C>T (n.427-457C>T)
c.212-90C>T
c.344C>T (p.Ala115Val)
c.644C>T (p.Ala215Val)
c.599C>T (p.Ala200Val)
c.521C>T (p.Ala174Val)
c.424+1043C>T
c.377C>T (p.Ala126Val)
c.*454C>T (n.*454C>T)
 gnomAD v4
Xg.48905349G>CCA412895700SLC35A2c.560C>G (p.Ala187Gly)
c.355-457C>G (n.355-457C>G)
c.427-457C>G (n.427-457C>G)
c.212-90C>G
c.344C>G (p.Ala115Gly)
c.644C>G (p.Ala215Gly)
c.599C>G (p.Ala200Gly)
c.521C>G (p.Ala174Gly)
c.424+1043C>G
c.377C>G (p.Ala126Gly)
c.*454C>G (n.*454C>G)
Xg.48905349G>TCA412895698SLC35A2c.560C>A (p.Ala187Asp)
c.355-457C>A (n.355-457C>A)
c.427-457C>A (n.427-457C>A)
c.212-90C>A
c.344C>A (p.Ala115Asp)
c.644C>A (p.Ala215Asp)
c.599C>A (p.Ala200Asp)
c.521C>A (p.Ala174Asp)
c.424+1043C>A
c.377C>A (p.Ala126Asp)
c.*454C>A (n.*454C>A)
Xg.48905350C>ACA412895701SLC35A2c.559G>T (p.Ala187Ser)
c.355-458G>T (n.355-458G>T)
c.427-458G>T (n.427-458G>T)
c.212-91G>T
c.343G>T (p.Ala115Ser)
c.643G>T (p.Ala215Ser)
c.598G>T (p.Ala200Ser)
c.520G>T (p.Ala174Ser)
c.424+1042G>T
c.376G>T (p.Ala126Ser)
c.*453G>T (n.*453G>T)
Xg.48905350C>GCA412895702SLC35A2c.559G>C (p.Ala187Pro)
c.355-458G>C (n.355-458G>C)
c.427-458G>C (n.427-458G>C)
c.212-91G>C
c.343G>C (p.Ala115Pro)
c.643G>C (p.Ala215Pro)
c.598G>C (p.Ala200Pro)
c.520G>C (p.Ala174Pro)
c.424+1042G>C
c.376G>C (p.Ala126Pro)
c.*453G>C (n.*453G>C)
Xg.48905350C>TCA412895703SLC35A2c.559G>A (p.Ala187Thr)
c.355-458G>A (n.355-458G>A)
c.427-458G>A (n.427-458G>A)
c.212-91G>A
c.343G>A (p.Ala115Thr)
c.643G>A (p.Ala215Thr)
c.598G>A (p.Ala200Thr)
c.520G>A (p.Ala174Thr)
c.424+1042G>A
c.376G>A (p.Ala126Thr)
c.*453G>A (n.*453G>A)
Xg.48905351T>ACA412895704SLC35A2c.558A>T (p.Gln186His)
c.355-459A>T (n.355-459A>T)
c.427-459A>T (n.427-459A>T)
c.212-92A>T
c.342A>T (p.Gln114His)
c.642A>T (p.Gln214His)
c.597A>T (p.Gln199His)
c.519A>T (p.Gln173His)
c.424+1041A>T
c.375A>T (p.Gln125His)
c.*452A>T (n.*452A>T)
Xg.48905351T>CCA516360294SLC35A2c.558A>G (p.Gln186=)
c.355-459A>G (n.355-459A>G)
c.427-459A>G (n.427-459A>G)
c.212-92A>G
c.342A>G (p.Gln114=)
c.642A>G (p.Gln214=)
c.597A>G (p.Gln199=)
c.519A>G (p.Gln173=)
c.424+1041A>G
c.375A>G (p.Gln125=)
c.*452A>G (n.*452A>G)
Xg.48905351T>GCA412895705SLC35A2c.558A>C (p.Gln186His)
c.355-459A>C (n.355-459A>C)
c.427-459A>C (n.427-459A>C)
c.212-92A>C
c.342A>C (p.Gln114His)
c.642A>C (p.Gln214His)
c.597A>C (p.Gln199His)
c.519A>C (p.Gln173His)
c.424+1041A>C
c.375A>C (p.Gln125His)
c.*452A>C (n.*452A>C)
Xg.48905352T>ACA412895706SLC35A2c.557A>T (p.Gln186Leu)
c.355-460A>T (n.355-460A>T)
c.427-460A>T (n.427-460A>T)
c.212-93A>T
c.341A>T (p.Gln114Leu)
c.641A>T (p.Gln214Leu)
c.596A>T (p.Gln199Leu)
c.518A>T (p.Gln173Leu)
c.424+1040A>T
c.374A>T (p.Gln125Leu)
c.*451A>T (n.*451A>T)
Xg.48905352T>CCA412895707SLC35A2c.557A>G (p.Gln186Arg)
c.355-460A>G (n.355-460A>G)
c.427-460A>G (n.427-460A>G)
c.212-93A>G
c.341A>G (p.Gln114Arg)
c.641A>G (p.Gln214Arg)
c.596A>G (p.Gln199Arg)
c.518A>G (p.Gln173Arg)
c.424+1040A>G
c.374A>G (p.Gln125Arg)
c.*451A>G (n.*451A>G)
Xg.48905352T>GCA412895708SLC35A2c.557A>C (p.Gln186Pro)
c.355-460A>C (n.355-460A>C)
c.427-460A>C (n.427-460A>C)
c.212-93A>C
c.341A>C (p.Gln114Pro)
c.641A>C (p.Gln214Pro)
c.596A>C (p.Gln199Pro)
c.518A>C (p.Gln173Pro)
c.424+1040A>C
c.374A>C (p.Gln125Pro)
c.*451A>C (n.*451A>C)
Xg.48905353G>ACA412895709SLC35A2c.556C>T (p.Gln186Ter)
c.355-461C>T (n.355-461C>T)
c.427-461C>T (n.427-461C>T)
c.212-94C>T
c.340C>T (p.Gln114Ter)
c.640C>T (p.Gln214Ter)
c.595C>T (p.Gln199Ter)
c.517C>T (p.Gln173Ter)
c.424+1039C>T
c.373C>T (p.Gln125Ter)
c.*450C>T (n.*450C>T)
 gnomAD v4
Xg.48905353G>CCA412895710SLC35A2c.556C>G (p.Gln186Glu)
c.355-461C>G (n.355-461C>G)
c.427-461C>G (n.427-461C>G)
c.212-94C>G
c.340C>G (p.Gln114Glu)
c.640C>G (p.Gln214Glu)
c.595C>G (p.Gln199Glu)
c.517C>G (p.Gln173Glu)
c.424+1039C>G
c.373C>G (p.Gln125Glu)
c.*450C>G (n.*450C>G)
 gnomAD v4 COSMIC
Xg.48905353G>TCA412895711SLC35A2c.556C>A (p.Gln186Lys)
c.355-461C>A (n.355-461C>A)
c.427-461C>A (n.427-461C>A)
c.212-94C>A
c.340C>A (p.Gln114Lys)
c.640C>A (p.Gln214Lys)
c.595C>A (p.Gln199Lys)
c.517C>A (p.Gln173Lys)
c.424+1039C>A
c.373C>A (p.Gln125Lys)
c.*450C>A (n.*450C>A)
Xg.48905354C>ACA412895712SLC35A2c.555G>T (p.Gln185His)
c.355-462G>T (n.355-462G>T)
c.427-462G>T (n.427-462G>T)
c.212-95G>T
c.339G>T (p.Gln113His)
c.639G>T (p.Gln213His)
c.594G>T (p.Gln198His)
c.516G>T (p.Gln172His)
c.424+1038G>T
c.372G>T (p.Gln124His)
c.*449G>T (n.*449G>T)
 gnomAD v4
Xg.48905354C>GCA412895713SLC35A2c.555G>C (p.Gln185His)
c.355-462G>C (n.355-462G>C)
c.427-462G>C (n.427-462G>C)
c.212-95G>C
c.339G>C (p.Gln113His)
c.639G>C (p.Gln213His)
c.594G>C (p.Gln198His)
c.516G>C (p.Gln172His)
c.424+1038G>C
c.372G>C (p.Gln124His)
c.*449G>C (n.*449G>C)
Xg.48905354C>TCA516360296SLC35A2c.555G>A (p.Gln185=)
c.355-462G>A (n.355-462G>A)
c.427-462G>A (n.427-462G>A)
c.212-95G>A
c.339G>A (p.Gln113=)
c.639G>A (p.Gln213=)
c.594G>A (p.Gln198=)
c.516G>A (p.Gln172=)
c.424+1038G>A
c.372G>A (p.Gln124=)
c.*449G>A (n.*449G>A)
Xg.48905355delCA2555358581SLC35A2c.554del (p.Gln185ArgfsTer?)
c.355-463del (n.355-463del)
c.427-463del (n.427-463del)
c.212-96del
c.338del (p.Gln113ArgfsTer?)
c.638del (p.Gln213ArgfsTer?)
c.593del (p.Gln198ArgfsTer?)
c.515del (p.Gln172ArgfsTer?)
c.424+1037del
c.371del (p.Gln124ArgfsTer?)
c.*448del (n.*448del)
Xg.48905355T>ACA412895716SLC35A2c.554A>T (p.Gln185Leu)
c.355-463A>T (n.355-463A>T)
c.427-463A>T (n.427-463A>T)
c.212-96A>T
c.338A>T (p.Gln113Leu)
c.638A>T (p.Gln213Leu)
c.593A>T (p.Gln198Leu)
c.515A>T (p.Gln172Leu)
c.424+1037A>T
c.371A>T (p.Gln124Leu)
c.*448A>T (n.*448A>T)
Xg.48905355T>CCA412895715SLC35A2c.554A>G (p.Gln185Arg)
c.355-463A>G (n.355-463A>G)
c.427-463A>G (n.427-463A>G)
c.212-96A>G
c.338A>G (p.Gln113Arg)
c.638A>G (p.Gln213Arg)
c.593A>G (p.Gln198Arg)
c.515A>G (p.Gln172Arg)
c.424+1037A>G
c.371A>G (p.Gln124Arg)
c.*448A>G (n.*448A>G)
 dbSNP
Xg.48905355T>GCA412895714SLC35A2c.554A>C (p.Gln185Pro)
c.355-463A>C (n.355-463A>C)
c.427-463A>C (n.427-463A>C)
c.212-96A>C
c.338A>C (p.Gln113Pro)
c.638A>C (p.Gln213Pro)
c.593A>C (p.Gln198Pro)
c.515A>C (p.Gln172Pro)
c.424+1037A>C
c.371A>C (p.Gln124Pro)
c.*448A>C (n.*448A>C)
Xg.48905355T=CA2428428951SLC35A2c.554A= (p.Gln185=)
c.355-463A= (n.355-463A=)
c.427-463A= (n.427-463A=)
c.212-96A=
c.338A= (p.Gln113=)
c.638A= (p.Gln213=)
c.593A= (p.Gln198=)
c.515A= (p.Gln172=)
c.424+1037A=
c.371A= (p.Gln124=)
c.*448A= (n.*448A=)
Xg.48905356G>ACA412895717SLC35A2c.553C>T (p.Gln185Ter)
c.355-464C>T (n.355-464C>T)
c.427-464C>T (n.427-464C>T)
c.212-97C>T
c.337C>T (p.Gln113Ter)
c.637C>T (p.Gln213Ter)
c.592C>T (p.Gln198Ter)
c.514C>T (p.Gln172Ter)
c.424+1036C>T
c.370C>T (p.Gln124Ter)
c.*447C>T (n.*447C>T)
Xg.48905356G>CCA412895718SLC35A2c.553C>G (p.Gln185Glu)
c.355-464C>G (n.355-464C>G)
c.427-464C>G (n.427-464C>G)
c.212-97C>G
c.337C>G (p.Gln113Glu)
c.637C>G (p.Gln213Glu)
c.592C>G (p.Gln198Glu)
c.514C>G (p.Gln172Glu)
c.424+1036C>G
c.370C>G (p.Gln124Glu)
c.*447C>G (n.*447C>G)
Xg.48905356G>TCA412895719SLC35A2c.553C>A (p.Gln185Lys)
c.355-464C>A (n.355-464C>A)
c.427-464C>A (n.427-464C>A)
c.212-97C>A
c.337C>A (p.Gln113Lys)
c.637C>A (p.Gln213Lys)
c.592C>A (p.Gln198Lys)
c.514C>A (p.Gln172Lys)
c.424+1036C>A
c.370C>A (p.Gln124Lys)
c.*447C>A (n.*447C>A)
Xg.48905357T>ACA516360297SLC35A2c.552A>T (p.Ala184=)
c.355-465A>T (n.355-465A>T)
c.427-465A>T (n.427-465A>T)
c.212-98A>T
c.336A>T (p.Ala112=)
c.636A>T (p.Ala212=)
c.591A>T (p.Ala197=)
c.513A>T (p.Ala171=)
c.424+1035A>T
c.369A>T (p.Ala123=)
c.*446A>T (n.*446A>T)
Xg.48905357T>CCA516360298SLC35A2c.552A>G (p.Ala184=)
c.355-465A>G (n.355-465A>G)
c.427-465A>G (n.427-465A>G)
c.212-98A>G
c.336A>G (p.Ala112=)
c.636A>G (p.Ala212=)
c.591A>G (p.Ala197=)
c.513A>G (p.Ala171=)
c.424+1035A>G
c.369A>G (p.Ala123=)
c.*446A>G (n.*446A>G)
Xg.48905357T>GCA516360300SLC35A2c.552A>C (p.Ala184=)
c.355-465A>C (n.355-465A>C)
c.427-465A>C (n.427-465A>C)
c.212-98A>C
c.336A>C (p.Ala112=)
c.636A>C (p.Ala212=)
c.591A>C (p.Ala197=)
c.513A>C (p.Ala171=)
c.424+1035A>C
c.369A>C (p.Ala123=)
c.*446A>C (n.*446A>C)
Xg.48905358G>ACA412895720SLC35A2c.551C>T (p.Ala184Val)
c.355-466C>T (n.355-466C>T)
c.427-466C>T (n.427-466C>T)
c.212-99C>T
c.335C>T (p.Ala112Val)
c.635C>T (p.Ala212Val)
c.590C>T (p.Ala197Val)
c.512C>T (p.Ala171Val)
c.424+1034C>T
c.368C>T (p.Ala123Val)
c.*445C>T (n.*445C>T)
Xg.48905358G>CCA412895721SLC35A2c.551C>G (p.Ala184Gly)
c.355-466C>G (n.355-466C>G)
c.427-466C>G (n.427-466C>G)
c.212-99C>G
c.335C>G (p.Ala112Gly)
c.635C>G (p.Ala212Gly)
c.590C>G (p.Ala197Gly)
c.512C>G (p.Ala171Gly)
c.424+1034C>G
c.368C>G (p.Ala123Gly)
c.*445C>G (n.*445C>G)
Xg.48905358G>TCA412895722SLC35A2c.551C>A (p.Ala184Glu)
c.355-466C>A (n.355-466C>A)
c.427-466C>A (n.427-466C>A)
c.212-99C>A
c.335C>A (p.Ala112Glu)
c.635C>A (p.Ala212Glu)
c.590C>A (p.Ala197Glu)
c.512C>A (p.Ala171Glu)
c.424+1034C>A
c.368C>A (p.Ala123Glu)
c.*445C>A (n.*445C>A)
Xg.48905359C>ACA412895723SLC35A2c.550G>T (p.Ala184Ser)
c.355-467G>T (n.355-467G>T)
c.427-467G>T (n.427-467G>T)
c.212-100G>T
c.334G>T (p.Ala112Ser)
c.634G>T (p.Ala212Ser)
c.589G>T (p.Ala197Ser)
c.511G>T (p.Ala171Ser)
c.424+1033G>T
c.367G>T (p.Ala123Ser)
c.*444G>T (n.*444G>T)
Xg.48905359C>GCA412895724SLC35A2c.550G>C (p.Ala184Pro)
c.355-467G>C (n.355-467G>C)
c.427-467G>C (n.427-467G>C)
c.212-100G>C
c.334G>C (p.Ala112Pro)
c.634G>C (p.Ala212Pro)
c.589G>C (p.Ala197Pro)
c.511G>C (p.Ala171Pro)
c.424+1033G>C
c.367G>C (p.Ala123Pro)
c.*444G>C (n.*444G>C)
Xg.48905359C>TCA412895725SLC35A2c.550G>A (p.Ala184Thr)
c.355-467G>A (n.355-467G>A)
c.427-467G>A (n.427-467G>A)
c.212-100G>A
c.334G>A (p.Ala112Thr)
c.634G>A (p.Ala212Thr)
c.589G>A (p.Ala197Thr)
c.511G>A (p.Ala171Thr)
c.424+1033G>A
c.367G>A (p.Ala123Thr)
c.*444G>A (n.*444G>A)
Xg.48905360C>ACA412895726SLC35A2c.549G>T (p.Gln183His)
c.355-468G>T (n.355-468G>T)
c.427-468G>T (n.427-468G>T)
c.212-101G>T
c.333G>T (p.Gln111His)
c.633G>T (p.Gln211His)
c.588G>T (p.Gln196His)
c.510G>T (p.Gln170His)
c.424+1032G>T
c.366G>T (p.Gln122His)
c.*443G>T (n.*443G>T)
Xg.48905360C>GCA412895727SLC35A2c.549G>C (p.Gln183His)
c.355-468G>C (n.355-468G>C)
c.427-468G>C (n.427-468G>C)
c.212-101G>C
c.333G>C (p.Gln111His)
c.633G>C (p.Gln211His)
c.588G>C (p.Gln196His)
c.510G>C (p.Gln170His)
c.424+1032G>C
c.366G>C (p.Gln122His)
c.*443G>C (n.*443G>C)
Xg.48905360C>TCA516360301SLC35A2c.549G>A (p.Gln183=)
c.355-468G>A (n.355-468G>A)
c.427-468G>A (n.427-468G>A)
c.212-101G>A
c.333G>A (p.Gln111=)
c.633G>A (p.Gln211=)
c.588G>A (p.Gln196=)
c.510G>A (p.Gln170=)
c.424+1032G>A
c.366G>A (p.Gln122=)
c.*443G>A (n.*443G>A)
Xg.48905361T>ACA412895729SLC35A2c.548A>T (p.Gln183Leu)
c.355-469A>T (n.355-469A>T)
c.427-469A>T (n.427-469A>T)
c.212-102A>T
c.332A>T (p.Gln111Leu)
c.632A>T (p.Gln211Leu)
c.587A>T (p.Gln196Leu)
c.509A>T (p.Gln170Leu)
c.424+1031A>T
c.365A>T (p.Gln122Leu)
c.*442A>T (n.*442A>T)
Xg.48905361T>CCA412895731SLC35A2c.548A>G (p.Gln183Arg)
c.355-469A>G (n.355-469A>G)
c.427-469A>G (n.427-469A>G)
c.212-102A>G
c.332A>G (p.Gln111Arg)
c.632A>G (p.Gln211Arg)
c.587A>G (p.Gln196Arg)
c.509A>G (p.Gln170Arg)
c.424+1031A>G
c.365A>G (p.Gln122Arg)
c.*442A>G (n.*442A>G)
 gnomAD v4
Xg.48905361T>GCA412895732SLC35A2c.548A>C (p.Gln183Pro)
c.355-469A>C (n.355-469A>C)
c.427-469A>C (n.427-469A>C)
c.212-102A>C
c.332A>C (p.Gln111Pro)
c.632A>C (p.Gln211Pro)
c.587A>C (p.Gln196Pro)
c.509A>C (p.Gln170Pro)
c.424+1031A>C
c.365A>C (p.Gln122Pro)
c.*442A>C (n.*442A>C)
Xg.48905362G>ACA412895734SLC35A2c.547C>T (p.Gln183Ter)
c.355-470C>T (n.355-470C>T)
c.427-470C>T (n.427-470C>T)
c.212-103C>T
c.331C>T (p.Gln111Ter)
c.631C>T (p.Gln211Ter)
c.586C>T (p.Gln196Ter)
c.508C>T (p.Gln170Ter)
c.424+1030C>T
c.364C>T (p.Gln122Ter)
c.*441C>T (n.*441C>T)
Xg.48905362G>CCA412895735SLC35A2c.547C>G (p.Gln183Glu)
c.355-470C>G (n.355-470C>G)
c.427-470C>G (n.427-470C>G)
c.212-103C>G
c.331C>G (p.Gln111Glu)
c.631C>G (p.Gln211Glu)
c.586C>G (p.Gln196Glu)
c.508C>G (p.Gln170Glu)
c.424+1030C>G
c.364C>G (p.Gln122Glu)
c.*441C>G (n.*441C>G)
Xg.48905362G>TCA412895733SLC35A2c.547C>A (p.Gln183Lys)
c.355-470C>A (n.355-470C>A)
c.427-470C>A (n.427-470C>A)
c.212-103C>A
c.331C>A (p.Gln111Lys)
c.631C>A (p.Gln211Lys)
c.586C>A (p.Gln196Lys)
c.508C>A (p.Gln170Lys)
c.424+1030C>A
c.364C>A (p.Gln122Lys)
c.*441C>A (n.*441C>A)
 gnomAD v4
Xg.48905363G>ACA516360304SLC35A2c.546C>T (p.Val182=)
c.355-471C>T (n.355-471C>T)
c.427-471C>T (n.427-471C>T)
c.212-104C>T
c.330C>T (p.Val110=)
c.630C>T (p.Val210=)
c.585C>T (p.Val195=)
c.507C>T (p.Val169=)
c.424+1029C>T
c.363C>T (p.Val121=)
c.*440C>T (n.*440C>T)
 COSMIC
Xg.48905363G>CCA516360305SLC35A2c.546C>G (p.Val182=)
c.355-471C>G (n.355-471C>G)
c.427-471C>G (n.427-471C>G)
c.212-104C>G
c.330C>G (p.Val110=)
c.630C>G (p.Val210=)
c.585C>G (p.Val195=)
c.507C>G (p.Val169=)
c.424+1029C>G
c.363C>G (p.Val121=)
c.*440C>G (n.*440C>G)
Xg.48905363G>TCA516360303SLC35A2c.546C>A (p.Val182=)
c.355-471C>A (n.355-471C>A)
c.427-471C>A (n.427-471C>A)
c.212-104C>A
c.330C>A (p.Val110=)
c.630C>A (p.Val210=)
c.585C>A (p.Val195=)
c.507C>A (p.Val169=)
c.424+1029C>A
c.363C>A (p.Val121=)
c.*440C>A (n.*440C>A)
Xg.48905364A>CCA412895737SLC35A2c.545T>G (p.Val182Gly)
c.355-472T>G (n.355-472T>G)
c.427-472T>G (n.427-472T>G)
c.212-105T>G
c.329T>G (p.Val110Gly)
c.629T>G (p.Val210Gly)
c.584T>G (p.Val195Gly)
c.506T>G (p.Val169Gly)
c.424+1028T>G
c.362T>G (p.Val121Gly)
c.*439T>G (n.*439T>G)
Xg.48905364A>GCA412895740SLC35A2c.545T>C (p.Val182Ala)
c.355-472T>C (n.355-472T>C)
c.427-472T>C (n.427-472T>C)
c.212-105T>C
c.329T>C (p.Val110Ala)
c.629T>C (p.Val210Ala)
c.584T>C (p.Val195Ala)
c.506T>C (p.Val169Ala)
c.424+1028T>C
c.362T>C (p.Val121Ala)
c.*439T>C (n.*439T>C)
Xg.48905364A>TCA412895739SLC35A2c.545T>A (p.Val182Asp)
c.355-472T>A (n.355-472T>A)
c.427-472T>A (n.427-472T>A)
c.212-105T>A
c.329T>A (p.Val110Asp)
c.629T>A (p.Val210Asp)
c.584T>A (p.Val195Asp)
c.506T>A (p.Val169Asp)
c.424+1028T>A
c.362T>A (p.Val121Asp)
c.*439T>A (n.*439T>A)
Xg.48905365C>ACA412895741SLC35A2c.544G>T (p.Val182Phe)
c.355-473G>T (n.355-473G>T)
c.427-473G>T (n.427-473G>T)
c.212-106G>T
c.328G>T (p.Val110Phe)
c.628G>T (p.Val210Phe)
c.583G>T (p.Val195Phe)
c.505G>T (p.Val169Phe)
c.424+1027G>T
c.361G>T (p.Val121Phe)
c.*438G>T (n.*438G>T)
Xg.48905365C>GCA412895743SLC35A2c.544G>C (p.Val182Leu)
c.355-473G>C (n.355-473G>C)
c.427-473G>C (n.427-473G>C)
c.212-106G>C
c.328G>C (p.Val110Leu)
c.628G>C (p.Val210Leu)
c.583G>C (p.Val195Leu)
c.505G>C (p.Val169Leu)
c.424+1027G>C
c.361G>C (p.Val121Leu)
c.*438G>C (n.*438G>C)
Xg.48905365C>TCA412895742SLC35A2c.544G>A (p.Val182Ile)
c.355-473G>A (n.355-473G>A)
c.427-473G>A (n.427-473G>A)
c.212-106G>A
c.328G>A (p.Val110Ile)
c.628G>A (p.Val210Ile)
c.583G>A (p.Val195Ile)
c.505G>A (p.Val169Ile)
c.424+1027G>A
c.361G>A (p.Val121Ile)
c.*438G>A (n.*438G>A)
Xg.48905366A=CA2428428952SLC35A2c.543T= (p.Ile181=)
c.355-474T= (n.355-474T=)
c.427-474T= (n.427-474T=)
c.212-107T=
c.327T= (p.Ile109=)
c.627T= (p.Ile209=)
c.582T= (p.Ile194=)
c.504T= (p.Ile168=)
c.424+1026T=
c.360T= (p.Ile120=)
c.*437T= (n.*437T=)
Xg.48905366A>CCA412895744SLC35A2c.543T>G (p.Ile181Met)
c.355-474T>G (n.355-474T>G)
c.427-474T>G (n.427-474T>G)
c.212-107T>G
c.327T>G (p.Ile109Met)
c.627T>G (p.Ile209Met)
c.582T>G (p.Ile194Met)
c.504T>G (p.Ile168Met)
c.424+1026T>G
c.360T>G (p.Ile120Met)
c.*437T>G (n.*437T>G)
Xg.48905366A>GCA329098983SLC35A2c.543T>C (p.Ile181=)
c.355-474T>C (n.355-474T>C)
c.427-474T>C (n.427-474T>C)
c.212-107T>C
c.327T>C (p.Ile109=)
c.627T>C (p.Ile209=)
c.582T>C (p.Ile194=)
c.504T>C (p.Ile168=)
c.424+1026T>C
c.360T>C (p.Ile120=)
c.*437T>C (n.*437T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905366A>TCA516360306SLC35A2c.543T>A (p.Ile181=)
c.355-474T>A (n.355-474T>A)
c.427-474T>A (n.427-474T>A)
c.212-107T>A
c.327T>A (p.Ile109=)
c.627T>A (p.Ile209=)
c.582T>A (p.Ile194=)
c.504T>A (p.Ile168=)
c.424+1026T>A
c.360T>A (p.Ile120=)
c.*437T>A (n.*437T>A)
Xg.48905367A>CCA412895745SLC35A2c.542T>G (p.Ile181Ser)
c.355-475T>G (n.355-475T>G)
c.427-475T>G (n.427-475T>G)
c.212-108T>G
c.326T>G (p.Ile109Ser)
c.626T>G (p.Ile209Ser)
c.581T>G (p.Ile194Ser)
c.503T>G (p.Ile168Ser)
c.424+1025T>G
c.359T>G (p.Ile120Ser)
c.*436T>G (n.*436T>G)
Xg.48905367A>GCA412895746SLC35A2c.542T>C (p.Ile181Thr)
c.355-475T>C (n.355-475T>C)
c.427-475T>C (n.427-475T>C)
c.212-108T>C
c.326T>C (p.Ile109Thr)
c.626T>C (p.Ile209Thr)
c.581T>C (p.Ile194Thr)
c.503T>C (p.Ile168Thr)
c.424+1025T>C
c.359T>C (p.Ile120Thr)
c.*436T>C (n.*436T>C)
Xg.48905367A>TCA412895747SLC35A2c.542T>A (p.Ile181Asn)
c.355-475T>A (n.355-475T>A)
c.427-475T>A (n.427-475T>A)
c.212-108T>A
c.326T>A (p.Ile109Asn)
c.626T>A (p.Ile209Asn)
c.581T>A (p.Ile194Asn)
c.503T>A (p.Ile168Asn)
c.424+1025T>A
c.359T>A (p.Ile120Asn)
c.*436T>A (n.*436T>A)
Xg.48905368T>ACA412895748SLC35A2c.541A>T (p.Ile181Phe)
c.355-476A>T (n.355-476A>T)
c.427-476A>T (n.427-476A>T)
c.212-109A>T
c.325A>T (p.Ile109Phe)
c.625A>T (p.Ile209Phe)
c.580A>T (p.Ile194Phe)
c.502A>T (p.Ile168Phe)
c.424+1024A>T
c.358A>T (p.Ile120Phe)
c.*435A>T (n.*435A>T)
Xg.48905368T>CCA412895749SLC35A2c.541A>G (p.Ile181Val)
c.355-476A>G (n.355-476A>G)
c.427-476A>G (n.427-476A>G)
c.212-109A>G
c.325A>G (p.Ile109Val)
c.625A>G (p.Ile209Val)
c.580A>G (p.Ile194Val)
c.502A>G (p.Ile168Val)
c.424+1024A>G
c.358A>G (p.Ile120Val)
c.*435A>G (n.*435A>G)
 ClinVar gnomAD v4
Xg.48905368T>GCA412895750SLC35A2c.541A>C (p.Ile181Leu)
c.355-476A>C (n.355-476A>C)
c.427-476A>C (n.427-476A>C)
c.212-109A>C
c.325A>C (p.Ile109Leu)
c.625A>C (p.Ile209Leu)
c.580A>C (p.Ile194Leu)
c.502A>C (p.Ile168Leu)
c.424+1024A>C
c.358A>C (p.Ile120Leu)
c.*435A>C (n.*435A>C)
Xg.48905369G>ACA516360309SLC35A2c.540C>T (p.Ala180=)
c.355-477C>T (n.355-477C>T)
c.427-477C>T (n.427-477C>T)
c.212-110C>T
c.324C>T (p.Ala108=)
c.624C>T (p.Ala208=)
c.579C>T (p.Ala193=)
c.501C>T (p.Ala167=)
c.424+1023C>T
c.357C>T (p.Ala119=)
c.*434C>T (n.*434C>T)
 dbSNP gnomAD v2
Xg.48905369G>CCA516360307SLC35A2c.540C>G (p.Ala180=)
c.355-477C>G (n.355-477C>G)
c.427-477C>G (n.427-477C>G)
c.212-110C>G
c.324C>G (p.Ala108=)
c.624C>G (p.Ala208=)
c.579C>G (p.Ala193=)
c.501C>G (p.Ala167=)
c.424+1023C>G
c.357C>G (p.Ala119=)
c.*434C>G (n.*434C>G)
Xg.48905369G=CA2428428953SLC35A2c.540C= (p.Ala180=)
c.355-477C= (n.355-477C=)
c.427-477C= (n.427-477C=)
c.212-110C=
c.324C= (p.Ala108=)
c.624C= (p.Ala208=)
c.579C= (p.Ala193=)
c.501C= (p.Ala167=)
c.424+1023C=
c.357C= (p.Ala119=)
c.*434C= (n.*434C=)
Xg.48905369G>TCA516360308SLC35A2c.540C>A (p.Ala180=)
c.355-477C>A (n.355-477C>A)
c.427-477C>A (n.427-477C>A)
c.212-110C>A
c.324C>A (p.Ala108=)
c.624C>A (p.Ala208=)
c.579C>A (p.Ala193=)
c.501C>A (p.Ala167=)
c.424+1023C>A
c.357C>A (p.Ala119=)
c.*434C>A (n.*434C>A)
Xg.48905370G>ACA412895751SLC35A2c.539C>T (p.Ala180Val)
c.355-478C>T (n.355-478C>T)
c.427-478C>T (n.427-478C>T)
c.212-111C>T
c.323C>T (p.Ala108Val)
c.623C>T (p.Ala208Val)
c.578C>T (p.Ala193Val)
c.500C>T (p.Ala167Val)
c.424+1022C>T
c.356C>T (p.Ala119Val)
c.*433C>T (n.*433C>T)
 gnomAD v4
Xg.48905370G>CCA412895752SLC35A2c.539C>G (p.Ala180Gly)
c.355-478C>G (n.355-478C>G)
c.427-478C>G (n.427-478C>G)
c.212-111C>G
c.323C>G (p.Ala108Gly)
c.623C>G (p.Ala208Gly)
c.578C>G (p.Ala193Gly)
c.500C>G (p.Ala167Gly)
c.424+1022C>G
c.356C>G (p.Ala119Gly)
c.*433C>G (n.*433C>G)
Xg.48905370G>TCA412895754SLC35A2c.539C>A (p.Ala180Asp)
c.355-478C>A (n.355-478C>A)
c.427-478C>A (n.427-478C>A)
c.212-111C>A
c.323C>A (p.Ala108Asp)
c.623C>A (p.Ala208Asp)
c.578C>A (p.Ala193Asp)
c.500C>A (p.Ala167Asp)
c.424+1022C>A
c.356C>A (p.Ala119Asp)
c.*433C>A (n.*433C>A)
Xg.48905371C>ACA412895757SLC35A2c.538G>T (p.Ala180Ser)
c.355-479G>T (n.355-479G>T)
c.427-479G>T (n.427-479G>T)
c.212-112G>T
c.322G>T (p.Ala108Ser)
c.622G>T (p.Ala208Ser)
c.577G>T (p.Ala193Ser)
c.499G>T (p.Ala167Ser)
c.424+1021G>T
c.355G>T (p.Ala119Ser)
c.*432G>T (n.*432G>T)
Xg.48905371C=CA2428428954SLC35A2c.538G= (p.Ala180=)
c.355-479G= (n.355-479G=)
c.427-479G= (n.427-479G=)
c.212-112G=
c.322G= (p.Ala108=)
c.622G= (p.Ala208=)
c.577G= (p.Ala193=)
c.499G= (p.Ala167=)
c.424+1021G=
c.355G= (p.Ala119=)
c.*432G= (n.*432G=)
Xg.48905371C>GCA412895756SLC35A2c.538G>C (p.Ala180Pro)
c.355-479G>C (n.355-479G>C)
c.427-479G>C (n.427-479G>C)
c.212-112G>C
c.322G>C (p.Ala108Pro)
c.622G>C (p.Ala208Pro)
c.577G>C (p.Ala193Pro)
c.499G>C (p.Ala167Pro)
c.424+1021G>C
c.355G>C (p.Ala119Pro)
c.*432G>C (n.*432G>C)
Xg.48905371C>TCA10406119SLC35A2c.538G>A (p.Ala180Thr)
c.355-479G>A (n.355-479G>A)
c.427-479G>A (n.427-479G>A)
c.212-112G>A
c.322G>A (p.Ala108Thr)
c.622G>A (p.Ala208Thr)
c.577G>A (p.Ala193Thr)
c.499G>A (p.Ala167Thr)
c.424+1021G>A
c.355G>A (p.Ala119Thr)
c.*432G>A (n.*432G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905372G>ACA516360311SLC35A2c.537C>T (p.Val179=)
c.355-480C>T (n.355-480C>T)
c.427-480C>T (n.427-480C>T)
c.212-113C>T
c.321C>T (p.Val107=)
c.621C>T (p.Val207=)
c.576C>T (p.Val192=)
c.498C>T (p.Val166=)
c.424+1020C>T
c.354C>T (p.Val118=)
c.*431C>T (n.*431C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905372G>CCA516360313SLC35A2c.537C>G (p.Val179=)
c.355-480C>G (n.355-480C>G)
c.427-480C>G (n.427-480C>G)
c.212-113C>G
c.321C>G (p.Val107=)
c.621C>G (p.Val207=)
c.576C>G (p.Val192=)
c.498C>G (p.Val166=)
c.424+1020C>G
c.354C>G (p.Val118=)
c.*431C>G (n.*431C>G)
Xg.48905372G=CA2428428955SLC35A2c.537C= (p.Val179=)
c.355-480C= (n.355-480C=)
c.427-480C= (n.427-480C=)
c.212-113C=
c.321C= (p.Val107=)
c.621C= (p.Val207=)
c.576C= (p.Val192=)
c.498C= (p.Val166=)
c.424+1020C=
c.354C= (p.Val118=)
c.*431C= (n.*431C=)
Xg.48905372G>TCA516360314SLC35A2c.537C>A (p.Val179=)
c.355-480C>A (n.355-480C>A)
c.427-480C>A (n.427-480C>A)
c.212-113C>A
c.321C>A (p.Val107=)
c.621C>A (p.Val207=)
c.576C>A (p.Val192=)
c.498C>A (p.Val166=)
c.424+1020C>A
c.354C>A (p.Val118=)
c.*431C>A (n.*431C>A)
Xg.48905373A>CCA412895758SLC35A2c.536T>G (p.Val179Gly)
c.355-481T>G (n.355-481T>G)
c.427-481T>G (n.427-481T>G)
c.212-114T>G
c.320T>G (p.Val107Gly)
c.620T>G (p.Val207Gly)
c.575T>G (p.Val192Gly)
c.497T>G (p.Val166Gly)
c.424+1019T>G
c.353T>G (p.Val118Gly)
c.*430T>G (n.*430T>G)
Xg.48905373A>GCA412895759SLC35A2c.536T>C (p.Val179Ala)
c.355-481T>C (n.355-481T>C)
c.427-481T>C (n.427-481T>C)
c.212-114T>C
c.320T>C (p.Val107Ala)
c.620T>C (p.Val207Ala)
c.575T>C (p.Val192Ala)
c.497T>C (p.Val166Ala)
c.424+1019T>C
c.353T>C (p.Val118Ala)
c.*430T>C (n.*430T>C)
Xg.48905373A>TCA412895760SLC35A2c.536T>A (p.Val179Asp)
c.355-481T>A (n.355-481T>A)
c.427-481T>A (n.427-481T>A)
c.212-114T>A
c.320T>A (p.Val107Asp)
c.620T>A (p.Val207Asp)
c.575T>A (p.Val192Asp)
c.497T>A (p.Val166Asp)
c.424+1019T>A
c.353T>A (p.Val118Asp)
c.*430T>A (n.*430T>A)
Xg.48905374C>ACA412895761SLC35A2c.535G>T (p.Val179Phe)
c.355-482G>T (n.355-482G>T)
c.427-482G>T (n.427-482G>T)
c.212-115G>T
c.319G>T (p.Val107Phe)
c.619G>T (p.Val207Phe)
c.574G>T (p.Val192Phe)
c.496G>T (p.Val166Phe)
c.424+1018G>T
c.352G>T (p.Val118Phe)
c.*429G>T (n.*429G>T)
Xg.48905374C=CA2428428956SLC35A2c.535G= (p.Val179=)
c.355-482G= (n.355-482G=)
c.427-482G= (n.427-482G=)
c.212-115G=
c.319G= (p.Val107=)
c.619G= (p.Val207=)
c.574G= (p.Val192=)
c.496G= (p.Val166=)
c.424+1018G=
c.352G= (p.Val118=)
c.*429G= (n.*429G=)
Xg.48905374C>GCA412895762SLC35A2c.535G>C (p.Val179Leu)
c.355-482G>C (n.355-482G>C)
c.427-482G>C (n.427-482G>C)
c.212-115G>C
c.319G>C (p.Val107Leu)
c.619G>C (p.Val207Leu)
c.574G>C (p.Val192Leu)
c.496G>C (p.Val166Leu)
c.424+1018G>C
c.352G>C (p.Val118Leu)
c.*429G>C (n.*429G>C)
Xg.48905374C>TCA16616694SLC35A2c.535G>A (p.Val179Ile)
c.355-482G>A (n.355-482G>A)
c.427-482G>A (n.427-482G>A)
c.212-115G>A
c.319G>A (p.Val107Ile)
c.619G>A (p.Val207Ile)
c.574G>A (p.Val192Ile)
c.496G>A (p.Val166Ile)
c.424+1018G>A
c.352G>A (p.Val118Ile)
c.*429G>A (n.*429G>A)
 ClinVar dbSNP gnomAD v4
Xg.48905375G>ACA10406120SLC35A2c.534C>T (p.Gly178=)
c.355-483C>T (n.355-483C>T)
c.427-483C>T (n.427-483C>T)
c.212-116C>T
c.318C>T (p.Gly106=)
c.618C>T (p.Gly206=)
c.573C>T (p.Gly191=)
c.495C>T (p.Gly165=)
c.424+1017C>T
c.351C>T (p.Gly117=)
c.*428C>T (n.*428C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905375G>CCA516360315SLC35A2c.534C>G (p.Gly178=)
c.355-483C>G (n.355-483C>G)
c.427-483C>G (n.427-483C>G)
c.212-116C>G
c.318C>G (p.Gly106=)
c.618C>G (p.Gly206=)
c.573C>G (p.Gly191=)
c.495C>G (p.Gly165=)
c.424+1017C>G
c.351C>G (p.Gly117=)
c.*428C>G (n.*428C>G)
Xg.48905375G=CA2428428957SLC35A2c.534C= (p.Gly178=)
c.355-483C= (n.355-483C=)
c.427-483C= (n.427-483C=)
c.212-116C=
c.318C= (p.Gly106=)
c.618C= (p.Gly206=)
c.573C= (p.Gly191=)
c.495C= (p.Gly165=)
c.424+1017C=
c.351C= (p.Gly117=)
c.*428C= (n.*428C=)
Xg.48905375G>TCA516360317SLC35A2c.534C>A (p.Gly178=)
c.355-483C>A (n.355-483C>A)
c.427-483C>A (n.427-483C>A)
c.212-116C>A
c.318C>A (p.Gly106=)
c.618C>A (p.Gly206=)
c.573C>A (p.Gly191=)
c.495C>A (p.Gly165=)
c.424+1017C>A
c.351C>A (p.Gly117=)
c.*428C>A (n.*428C>A)
 gnomAD v4
Xg.48905376C>ACA412895763SLC35A2c.533G>T (p.Gly178Val)
c.355-484G>T (n.355-484G>T)
c.427-484G>T (n.427-484G>T)
c.212-117G>T
c.317G>T (p.Gly106Val)
c.617G>T (p.Gly206Val)
c.572G>T (p.Gly191Val)
c.494G>T (p.Gly165Val)
c.424+1016G>T
c.350G>T (p.Gly117Val)
c.*427G>T (n.*427G>T)
Xg.48905376C>GCA412895764SLC35A2c.533G>C (p.Gly178Ala)
c.355-484G>C (n.355-484G>C)
c.427-484G>C (n.427-484G>C)
c.212-117G>C
c.317G>C (p.Gly106Ala)
c.617G>C (p.Gly206Ala)
c.572G>C (p.Gly191Ala)
c.494G>C (p.Gly165Ala)
c.424+1016G>C
c.350G>C (p.Gly117Ala)
c.*427G>C (n.*427G>C)
Xg.48905376C>TCA412895765SLC35A2c.533G>A (p.Gly178Asp)
c.355-484G>A (n.355-484G>A)
c.427-484G>A (n.427-484G>A)
c.212-117G>A
c.317G>A (p.Gly106Asp)
c.617G>A (p.Gly206Asp)
c.572G>A (p.Gly191Asp)
c.494G>A (p.Gly165Asp)
c.424+1016G>A
c.350G>A (p.Gly117Asp)
c.*427G>A (n.*427G>A)
Xg.48905377C>ACA412895767SLC35A2c.532G>T (p.Gly178Cys)
c.355-485G>T (n.355-485G>T)
c.427-485G>T (n.427-485G>T)
c.212-118G>T
c.316G>T (p.Gly106Cys)
c.616G>T (p.Gly206Cys)
c.571G>T (p.Gly191Cys)
c.493G>T (p.Gly165Cys)
c.424+1015G>T
c.349G>T (p.Gly117Cys)
c.*426G>T (n.*426G>T)
Xg.48905377C>GCA412895768SLC35A2c.532G>C (p.Gly178Arg)
c.355-485G>C (n.355-485G>C)
c.427-485G>C (n.427-485G>C)
c.212-118G>C
c.316G>C (p.Gly106Arg)
c.616G>C (p.Gly206Arg)
c.571G>C (p.Gly191Arg)
c.493G>C (p.Gly165Arg)
c.424+1015G>C
c.349G>C (p.Gly117Arg)
c.*426G>C (n.*426G>C)
Xg.48905377C>TCA412895766SLC35A2c.532G>A (p.Gly178Ser)
c.355-485G>A (n.355-485G>A)
c.427-485G>A (n.427-485G>A)
c.212-118G>A
c.316G>A (p.Gly106Ser)
c.616G>A (p.Gly206Ser)
c.571G>A (p.Gly191Ser)
c.493G>A (p.Gly165Ser)
c.424+1015G>A
c.349G>A (p.Gly117Ser)
c.*426G>A (n.*426G>A)

Number of alleles fetched