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.48905395G>ACA516360348SLC35A2c.514C>T (p.Leu172=)
c.355-503C>T (n.355-503C>T)
c.427-503C>T (n.427-503C>T)
c.212-136C>T
c.298C>T (p.Leu100=)
c.598C>T (p.Leu200=)
c.553C>T (p.Leu185=)
c.475C>T (p.Leu159=)
c.424+997C>T
c.331C>T (p.Leu111=)
c.*408C>T (n.*408C>T)
Xg.48905395G>CCA412895802SLC35A2c.514C>G (p.Leu172Val)
c.355-503C>G (n.355-503C>G)
c.427-503C>G (n.427-503C>G)
c.212-136C>G
c.298C>G (p.Leu100Val)
c.598C>G (p.Leu200Val)
c.553C>G (p.Leu185Val)
c.475C>G (p.Leu159Val)
c.424+997C>G
c.331C>G (p.Leu111Val)
c.*408C>G (n.*408C>G)
Xg.48905395G>TCA412895804SLC35A2c.514C>A (p.Leu172Met)
c.355-503C>A (n.355-503C>A)
c.427-503C>A (n.427-503C>A)
c.212-136C>A
c.298C>A (p.Leu100Met)
c.598C>A (p.Leu200Met)
c.553C>A (p.Leu185Met)
c.475C>A (p.Leu159Met)
c.424+997C>A
c.331C>A (p.Leu111Met)
c.*408C>A (n.*408C>A)
Xg.48905396G>ACA516360352SLC35A2c.513C>T (p.Ser171=)
c.355-504C>T (n.355-504C>T)
c.427-504C>T (n.427-504C>T)
c.212-137C>T
c.297C>T (p.Ser99=)
c.597C>T (p.Ser199=)
c.552C>T (p.Ser184=)
c.474C>T (p.Ser158=)
c.424+996C>T
c.330C>T (p.Ser110=)
c.*407C>T (n.*407C>T)
Xg.48905396G>CCA516360353SLC35A2c.513C>G (p.Ser171=)
c.355-504C>G (n.355-504C>G)
c.427-504C>G (n.427-504C>G)
c.212-137C>G
c.297C>G (p.Ser99=)
c.597C>G (p.Ser199=)
c.552C>G (p.Ser184=)
c.474C>G (p.Ser158=)
c.424+996C>G
c.330C>G (p.Ser110=)
c.*407C>G (n.*407C>G)
Xg.48905396G>TCA516360354SLC35A2c.513C>A (p.Ser171=)
c.355-504C>A (n.355-504C>A)
c.427-504C>A (n.427-504C>A)
c.212-137C>A
c.297C>A (p.Ser99=)
c.597C>A (p.Ser199=)
c.552C>A (p.Ser184=)
c.474C>A (p.Ser158=)
c.424+996C>A
c.330C>A (p.Ser110=)
c.*407C>A (n.*407C>A)
Xg.48905397G>ACA412895805SLC35A2c.512C>T (p.Ser171Phe)
c.355-505C>T (n.355-505C>T)
c.427-505C>T (n.427-505C>T)
c.212-138C>T
c.296C>T (p.Ser99Phe)
c.596C>T (p.Ser199Phe)
c.551C>T (p.Ser184Phe)
c.473C>T (p.Ser158Phe)
c.424+995C>T
c.329C>T (p.Ser110Phe)
c.*406C>T (n.*406C>T)
Xg.48905397G>CCA412895806SLC35A2c.512C>G (p.Ser171Cys)
c.355-505C>G (n.355-505C>G)
c.427-505C>G (n.427-505C>G)
c.212-138C>G
c.296C>G (p.Ser99Cys)
c.596C>G (p.Ser199Cys)
c.551C>G (p.Ser184Cys)
c.473C>G (p.Ser158Cys)
c.424+995C>G
c.329C>G (p.Ser110Cys)
c.*406C>G (n.*406C>G)
Xg.48905397G>TCA412895807SLC35A2c.512C>A (p.Ser171Tyr)
c.355-505C>A (n.355-505C>A)
c.427-505C>A (n.427-505C>A)
c.212-138C>A
c.296C>A (p.Ser99Tyr)
c.596C>A (p.Ser199Tyr)
c.551C>A (p.Ser184Tyr)
c.473C>A (p.Ser158Tyr)
c.424+995C>A
c.329C>A (p.Ser110Tyr)
c.*406C>A (n.*406C>A)
Xg.48905398A>CCA412895808SLC35A2c.511T>G (p.Ser171Ala)
c.355-506T>G (n.355-506T>G)
c.427-506T>G (n.427-506T>G)
c.212-139T>G
c.295T>G (p.Ser99Ala)
c.595T>G (p.Ser199Ala)
c.550T>G (p.Ser184Ala)
c.*131T>G (n.*131T>G)
c.472T>G (p.Ser158Ala)
c.424+994T>G
c.328T>G (p.Ser110Ala)
c.*405T>G (n.*405T>G)
Xg.48905398A>GCA412895809SLC35A2c.511T>C (p.Ser171Pro)
c.355-506T>C (n.355-506T>C)
c.427-506T>C (n.427-506T>C)
c.212-139T>C
c.295T>C (p.Ser99Pro)
c.595T>C (p.Ser199Pro)
c.550T>C (p.Ser184Pro)
c.*131T>C (n.*131T>C)
c.472T>C (p.Ser158Pro)
c.424+994T>C
c.328T>C (p.Ser110Pro)
c.*405T>C (n.*405T>C)
 gnomAD v4
Xg.48905398A>TCA412895810SLC35A2c.511T>A (p.Ser171Thr)
c.355-506T>A (n.355-506T>A)
c.427-506T>A (n.427-506T>A)
c.212-139T>A
c.295T>A (p.Ser99Thr)
c.595T>A (p.Ser199Thr)
c.550T>A (p.Ser184Thr)
c.*131T>A (n.*131T>A)
c.472T>A (p.Ser158Thr)
c.424+994T>A
c.328T>A (p.Ser110Thr)
c.*405T>A (n.*405T>A)
Xg.48905399G>ACA516360358SLC35A2c.510C>T (p.Ala170=)
c.355-507C>T (n.355-507C>T)
c.427-507C>T (n.427-507C>T)
c.212-140C>T
c.294C>T (p.Ala98=)
c.594C>T (p.Ala198=)
c.549C>T (p.Ala183=)
c.*130C>T (n.*130C>T)
c.471C>T (p.Ala157=)
c.424+993C>T
c.327C>T (p.Ala109=)
c.*404C>T (n.*404C>T)
Xg.48905399G>CCA516360359SLC35A2c.510C>G (p.Ala170=)
c.355-507C>G (n.355-507C>G)
c.427-507C>G (n.427-507C>G)
c.212-140C>G
c.294C>G (p.Ala98=)
c.594C>G (p.Ala198=)
c.549C>G (p.Ala183=)
c.*130C>G (n.*130C>G)
c.471C>G (p.Ala157=)
c.424+993C>G
c.327C>G (p.Ala109=)
c.*404C>G (n.*404C>G)
Xg.48905399G>TCA516360360SLC35A2c.510C>A (p.Ala170=)
c.355-507C>A (n.355-507C>A)
c.427-507C>A (n.427-507C>A)
c.212-140C>A
c.294C>A (p.Ala98=)
c.594C>A (p.Ala198=)
c.549C>A (p.Ala183=)
c.*130C>A (n.*130C>A)
c.471C>A (p.Ala157=)
c.424+993C>A
c.327C>A (p.Ala109=)
c.*404C>A (n.*404C>A)
Xg.48905399_48905409delinsGGCCCACTGCACA2428428963SLC35A2c.500_510delinsTGCAGTGGGCC (p.Leu167=)
c.355-517_355-507delinsTGCAGTGGGCC (n.355-517_355-507delinsTGCAGTGGGCC)
c.427-517_427-507delinsTGCAGTGGGCC (n.427-517_427-507delinsTGCAGTGGGCC)
c.212-150_212-140delinsTGCAGTGGGCC
c.284_294delinsTGCAGTGGGCC (p.Leu95=)
c.584_594delinsTGCAGTGGGCC (p.Leu195=)
c.539_549delinsTGCAGTGGGCC (p.Leu180=)
c.*120_*130delinsTGCAGTGGGCC (n.*120_*130delinsTGCAGTGGGCC)
c.461_471delinsTGCAGTGGGCC (p.Leu154=)
c.424+983_424+993delinsTGCAGTGGGCC
c.317_327delinsTGCAGTGGGCC (p.Leu106=)
c.*394_*404delinsTGCAGTGGGCC (n.*394_*404delinsTGCAGTGGGCC)
Xg.48905400G>ACA412895811SLC35A2c.509C>T (p.Ala170Val)
c.355-508C>T (n.355-508C>T)
c.427-508C>T (n.427-508C>T)
c.212-141C>T
c.293C>T (p.Ala98Val)
c.593C>T (p.Ala198Val)
c.548C>T (p.Ala183Val)
c.*129C>T (n.*129C>T)
c.470C>T (p.Ala157Val)
c.424+992C>T
c.326C>T (p.Ala109Val)
c.*403C>T (n.*403C>T)
Xg.48905400G>CCA412895812SLC35A2c.509C>G (p.Ala170Gly)
c.355-508C>G (n.355-508C>G)
c.427-508C>G (n.427-508C>G)
c.212-141C>G
c.293C>G (p.Ala98Gly)
c.593C>G (p.Ala198Gly)
c.548C>G (p.Ala183Gly)
c.*129C>G (n.*129C>G)
c.470C>G (p.Ala157Gly)
c.424+992C>G
c.326C>G (p.Ala109Gly)
c.*403C>G (n.*403C>G)
Xg.48905400G>TCA412895813SLC35A2c.509C>A (p.Ala170Asp)
c.355-508C>A (n.355-508C>A)
c.427-508C>A (n.427-508C>A)
c.212-141C>A
c.293C>A (p.Ala98Asp)
c.593C>A (p.Ala198Asp)
c.548C>A (p.Ala183Asp)
c.*129C>A (n.*129C>A)
c.470C>A (p.Ala157Asp)
c.424+992C>A
c.326C>A (p.Ala109Asp)
c.*403C>A (n.*403C>A)
Xg.48905403_48905412delCA16043639SLC35A2c.500_509del (p.Leu167ProfsTer?)
c.355-517_355-508del (n.355-517_355-508del)
c.427-517_427-508del (n.427-517_427-508del)
c.212-150_212-141del
c.284_293del (p.Leu95ProfsTer?)
c.584_593del (p.Leu195ProfsTer?)
c.539_548del (p.Leu180ProfsTer?)
c.*120_*129del (n.*120_*129del)
c.461_470del (p.Leu154ProfsTer?)
c.424+983_424+992del
c.317_326del (p.Leu106ProfsTer?)
c.*394_*403del (n.*394_*403del)
 ClinVar dbSNP
Xg.48905401C>ACA412895816SLC35A2c.508G>T (p.Ala170Ser)
c.355-509G>T (n.355-509G>T)
c.427-509G>T (n.427-509G>T)
c.212-142G>T
c.292G>T (p.Ala98Ser)
c.592G>T (p.Ala198Ser)
c.547G>T (p.Ala183Ser)
c.*128G>T (n.*128G>T)
c.469G>T (p.Ala157Ser)
c.424+991G>T
c.325G>T (p.Ala109Ser)
c.*402G>T (n.*402G>T)
 gnomAD v4
Xg.48905401C>GCA412895814SLC35A2c.508G>C (p.Ala170Pro)
c.355-509G>C (n.355-509G>C)
c.427-509G>C (n.427-509G>C)
c.212-142G>C
c.292G>C (p.Ala98Pro)
c.592G>C (p.Ala198Pro)
c.547G>C (p.Ala183Pro)
c.*128G>C (n.*128G>C)
c.469G>C (p.Ala157Pro)
c.424+991G>C
c.325G>C (p.Ala109Pro)
c.*402G>C (n.*402G>C)
Xg.48905401C>TCA412895815SLC35A2c.508G>A (p.Ala170Thr)
c.355-509G>A (n.355-509G>A)
c.427-509G>A (n.427-509G>A)
c.212-142G>A
c.292G>A (p.Ala98Thr)
c.592G>A (p.Ala198Thr)
c.547G>A (p.Ala183Thr)
c.*128G>A (n.*128G>A)
c.469G>A (p.Ala157Thr)
c.424+991G>A
c.325G>A (p.Ala109Thr)
c.*402G>A (n.*402G>A)
 gnomAD v4
Xg.48905403delCA2693659612SLC35A2c.508del (p.Ala170ProfsTer?)
c.355-509del (n.355-509del)
c.427-509del (n.427-509del)
c.212-142del
c.292del (p.Ala98ProfsTer?)
c.592del (p.Ala198ProfsTer?)
c.547del (p.Ala183ProfsTer?)
c.*128del (n.*128del)
c.469del (p.Ala157ProfsTer?)
c.424+991del
c.325del (p.Ala109ProfsTer?)
c.*402del (n.*402del)
 gnomAD v4
Xg.48905402C>ACA412895817SLC35A2c.507G>T (p.Trp169Cys)
c.355-510G>T (n.355-510G>T)
c.427-510G>T (n.427-510G>T)
c.212-143G>T
c.291G>T (p.Trp97Cys)
c.591G>T (p.Trp197Cys)
c.546G>T (p.Trp182Cys)
c.*127G>T (n.*127G>T)
c.468G>T (p.Trp156Cys)
c.424+990G>T
c.324G>T (p.Trp108Cys)
c.*401G>T (n.*401G>T)
 gnomAD v4
Xg.48905402C>GCA412895818SLC35A2c.507G>C (p.Trp169Cys)
c.355-510G>C (n.355-510G>C)
c.427-510G>C (n.427-510G>C)
c.212-143G>C
c.291G>C (p.Trp97Cys)
c.591G>C (p.Trp197Cys)
c.546G>C (p.Trp182Cys)
c.*127G>C (n.*127G>C)
c.468G>C (p.Trp156Cys)
c.424+990G>C
c.324G>C (p.Trp108Cys)
c.*401G>C (n.*401G>C)
Xg.48905402C>TCA412895819SLC35A2c.507G>A (p.Trp169Ter)
c.355-510G>A (n.355-510G>A)
c.427-510G>A (n.427-510G>A)
c.212-143G>A
c.291G>A (p.Trp97Ter)
c.591G>A (p.Trp197Ter)
c.546G>A (p.Trp182Ter)
c.*127G>A (n.*127G>A)
c.468G>A (p.Trp156Ter)
c.424+990G>A
c.324G>A (p.Trp108Ter)
c.*401G>A (n.*401G>A)
Xg.48905403C>ACA412895820SLC35A2c.506G>T (p.Trp169Leu)
c.355-511G>T (n.355-511G>T)
c.427-511G>T (n.427-511G>T)
c.212-144G>T
c.290G>T (p.Trp97Leu)
c.590G>T (p.Trp197Leu)
c.545G>T (p.Trp182Leu)
c.*126G>T (n.*126G>T)
c.467G>T (p.Trp156Leu)
c.424+989G>T
c.323G>T (p.Trp108Leu)
c.*400G>T (n.*400G>T)
Xg.48905403C>GCA412895821SLC35A2c.506G>C (p.Trp169Ser)
c.355-511G>C (n.355-511G>C)
c.427-511G>C (n.427-511G>C)
c.212-144G>C
c.290G>C (p.Trp97Ser)
c.590G>C (p.Trp197Ser)
c.545G>C (p.Trp182Ser)
c.*126G>C (n.*126G>C)
c.467G>C (p.Trp156Ser)
c.424+989G>C
c.323G>C (p.Trp108Ser)
c.*400G>C (n.*400G>C)
Xg.48905403C>TCA412895822SLC35A2c.506G>A (p.Trp169Ter)
c.355-511G>A (n.355-511G>A)
c.427-511G>A (n.427-511G>A)
c.212-144G>A
c.290G>A (p.Trp97Ter)
c.590G>A (p.Trp197Ter)
c.545G>A (p.Trp182Ter)
c.*126G>A (n.*126G>A)
c.467G>A (p.Trp156Ter)
c.424+989G>A
c.323G>A (p.Trp108Ter)
c.*400G>A (n.*400G>A)
Xg.48905404A>CCA412895823SLC35A2c.505T>G (p.Trp169Gly)
c.355-512T>G (n.355-512T>G)
c.427-512T>G (n.427-512T>G)
c.212-145T>G
c.289T>G (p.Trp97Gly)
c.589T>G (p.Trp197Gly)
c.544T>G (p.Trp182Gly)
c.*125T>G (n.*125T>G)
c.466T>G (p.Trp156Gly)
c.424+988T>G
c.322T>G (p.Trp108Gly)
c.*399T>G (n.*399T>G)
Xg.48905404A>GCA412895824SLC35A2c.505T>C (p.Trp169Arg)
c.355-512T>C (n.355-512T>C)
c.427-512T>C (n.427-512T>C)
c.212-145T>C
c.289T>C (p.Trp97Arg)
c.589T>C (p.Trp197Arg)
c.544T>C (p.Trp182Arg)
c.*125T>C (n.*125T>C)
c.466T>C (p.Trp156Arg)
c.424+988T>C
c.322T>C (p.Trp108Arg)
c.*399T>C (n.*399T>C)
 COSMIC
Xg.48905404A>TCA412895825SLC35A2c.505T>A (p.Trp169Arg)
c.355-512T>A (n.355-512T>A)
c.427-512T>A (n.427-512T>A)
c.212-145T>A
c.289T>A (p.Trp97Arg)
c.589T>A (p.Trp197Arg)
c.544T>A (p.Trp182Arg)
c.*125T>A (n.*125T>A)
c.466T>A (p.Trp156Arg)
c.424+988T>A
c.322T>A (p.Trp108Arg)
c.*399T>A (n.*399T>A)
Xg.48905405C>ACA412895826SLC35A2c.504G>T (p.Gln168His)
c.355-513G>T (n.355-513G>T)
c.427-513G>T (n.427-513G>T)
c.212-146G>T
c.288G>T (p.Gln96His)
c.588G>T (p.Gln196His)
c.543G>T (p.Gln181His)
c.*124G>T (n.*124G>T)
c.465G>T (p.Gln155His)
c.424+987G>T
c.321G>T (p.Gln107His)
c.*398G>T (n.*398G>T)
 gnomAD v4
Xg.48905405C=CA2428428964SLC35A2c.504G= (p.Gln168=)
c.355-513G= (n.355-513G=)
c.427-513G= (n.427-513G=)
c.212-146G=
c.288G= (p.Gln96=)
c.588G= (p.Gln196=)
c.543G= (p.Gln181=)
c.*124G= (n.*124G=)
c.465G= (p.Gln155=)
c.424+987G=
c.321G= (p.Gln107=)
c.*398G= (n.*398G=)
Xg.48905405C>GCA412895827SLC35A2c.504G>C (p.Gln168His)
c.355-513G>C (n.355-513G>C)
c.427-513G>C (n.427-513G>C)
c.212-146G>C
c.288G>C (p.Gln96His)
c.588G>C (p.Gln196His)
c.543G>C (p.Gln181His)
c.*124G>C (n.*124G>C)
c.465G>C (p.Gln155His)
c.424+987G>C
c.321G>C (p.Gln107His)
c.*398G>C (n.*398G>C)
Xg.48905405C>TCA516360369SLC35A2c.504G>A (p.Gln168=)
c.355-513G>A (n.355-513G>A)
c.427-513G>A (n.427-513G>A)
c.212-146G>A
c.288G>A (p.Gln96=)
c.588G>A (p.Gln196=)
c.543G>A (p.Gln181=)
c.*124G>A (n.*124G>A)
c.465G>A (p.Gln155=)
c.424+987G>A
c.321G>A (p.Gln107=)
c.*398G>A (n.*398G>A)
 dbSNP
Xg.48905406T>ACA412895830SLC35A2c.503A>T (p.Gln168Leu)
c.355-514A>T (n.355-514A>T)
c.427-514A>T (n.427-514A>T)
c.212-147A>T
c.287A>T (p.Gln96Leu)
c.587A>T (p.Gln196Leu)
c.542A>T (p.Gln181Leu)
c.*123A>T (n.*123A>T)
c.464A>T (p.Gln155Leu)
c.424+986A>T
c.320A>T (p.Gln107Leu)
c.*397A>T (n.*397A>T)
Xg.48905406T>CCA412895829SLC35A2c.503A>G (p.Gln168Arg)
c.355-514A>G (n.355-514A>G)
c.427-514A>G (n.427-514A>G)
c.212-147A>G
c.287A>G (p.Gln96Arg)
c.587A>G (p.Gln196Arg)
c.542A>G (p.Gln181Arg)
c.*123A>G (n.*123A>G)
c.464A>G (p.Gln155Arg)
c.424+986A>G
c.320A>G (p.Gln107Arg)
c.*397A>G (n.*397A>G)
 gnomAD v4
Xg.48905406T>GCA412895828SLC35A2c.503A>C (p.Gln168Pro)
c.355-514A>C (n.355-514A>C)
c.427-514A>C (n.427-514A>C)
c.212-147A>C
c.287A>C (p.Gln96Pro)
c.587A>C (p.Gln196Pro)
c.542A>C (p.Gln181Pro)
c.*123A>C (n.*123A>C)
c.464A>C (p.Gln155Pro)
c.424+986A>C
c.320A>C (p.Gln107Pro)
c.*397A>C (n.*397A>C)
Xg.48905407G>ACA412895831SLC35A2c.502C>T (p.Gln168Ter)
c.355-515C>T (n.355-515C>T)
c.427-515C>T (n.427-515C>T)
c.212-148C>T
c.286C>T (p.Gln96Ter)
c.586C>T (p.Gln196Ter)
c.541C>T (p.Gln181Ter)
c.*122C>T (n.*122C>T)
c.463C>T (p.Gln155Ter)
c.424+985C>T
c.319C>T (p.Gln107Ter)
c.*396C>T (n.*396C>T)
Xg.48905407G>CCA412895832SLC35A2c.502C>G (p.Gln168Glu)
c.355-515C>G (n.355-515C>G)
c.427-515C>G (n.427-515C>G)
c.212-148C>G
c.286C>G (p.Gln96Glu)
c.586C>G (p.Gln196Glu)
c.541C>G (p.Gln181Glu)
c.*122C>G (n.*122C>G)
c.463C>G (p.Gln155Glu)
c.424+985C>G
c.319C>G (p.Gln107Glu)
c.*396C>G (n.*396C>G)
Xg.48905407G>TCA412895833SLC35A2c.502C>A (p.Gln168Lys)
c.355-515C>A (n.355-515C>A)
c.427-515C>A (n.427-515C>A)
c.212-148C>A
c.286C>A (p.Gln96Lys)
c.586C>A (p.Gln196Lys)
c.541C>A (p.Gln181Lys)
c.*122C>A (n.*122C>A)
c.463C>A (p.Gln155Lys)
c.424+985C>A
c.319C>A (p.Gln107Lys)
c.*396C>A (n.*396C>A)
Xg.48905408C>ACA516360373SLC35A2c.501G>T (p.Leu167=)
c.355-516G>T (n.355-516G>T)
c.427-516G>T (n.427-516G>T)
c.212-149G>T
c.285G>T (p.Leu95=)
c.585G>T (p.Leu195=)
c.540G>T (p.Leu180=)
c.*121G>T (n.*121G>T)
c.462G>T (p.Leu154=)
c.424+984G>T
c.318G>T (p.Leu106=)
c.*395G>T (n.*395G>T)
 gnomAD v4
Xg.48905408C>GCA516360374SLC35A2c.501G>C (p.Leu167=)
c.355-516G>C (n.355-516G>C)
c.427-516G>C (n.427-516G>C)
c.212-149G>C
c.285G>C (p.Leu95=)
c.585G>C (p.Leu195=)
c.540G>C (p.Leu180=)
c.*121G>C (n.*121G>C)
c.462G>C (p.Leu154=)
c.424+984G>C
c.318G>C (p.Leu106=)
c.*395G>C (n.*395G>C)
Xg.48905408C>TCA516360375SLC35A2c.501G>A (p.Leu167=)
c.355-516G>A (n.355-516G>A)
c.427-516G>A (n.427-516G>A)
c.212-149G>A
c.285G>A (p.Leu95=)
c.585G>A (p.Leu195=)
c.540G>A (p.Leu180=)
c.*121G>A (n.*121G>A)
c.462G>A (p.Leu154=)
c.424+984G>A
c.318G>A (p.Leu106=)
c.*395G>A (n.*395G>A)
Xg.48905408_48905412dupCA2695233842SLC35A2c.497_501dup (p.Gln168GlyfsTer?)
c.355-520_355-516dup (n.355-520_355-516dup)
c.427-520_427-516dup (n.427-520_427-516dup)
c.212-153_212-149dup
c.281_285dup (p.Gln96GlyfsTer?)
c.581_585dup (p.Gln196GlyfsTer?)
c.536_540dup (p.Gln181GlyfsTer?)
c.*117_*121dup (n.*117_*121dup)
c.458_462dup (p.Gln155GlyfsTer?)
c.424+980_424+984dup
c.314_318dup (p.Gln107GlyfsTer?)
c.*391_*395dup (n.*391_*395dup)
Xg.48905409A>CCA412895834SLC35A2c.500T>G (p.Leu167Arg)
c.355-517T>G (n.355-517T>G)
c.427-517T>G (n.427-517T>G)
c.212-150T>G
c.284T>G (p.Leu95Arg)
c.584T>G (p.Leu195Arg)
c.539T>G (p.Leu180Arg)
c.*120T>G (n.*120T>G)
c.461T>G (p.Leu154Arg)
c.424+983T>G
c.317T>G (p.Leu106Arg)
c.*394T>G (n.*394T>G)
Xg.48905409A>GCA412895835SLC35A2c.500T>C (p.Leu167Pro)
c.355-517T>C (n.355-517T>C)
c.427-517T>C (n.427-517T>C)
c.212-150T>C
c.284T>C (p.Leu95Pro)
c.584T>C (p.Leu195Pro)
c.539T>C (p.Leu180Pro)
c.*120T>C (n.*120T>C)
c.461T>C (p.Leu154Pro)
c.424+983T>C
c.317T>C (p.Leu106Pro)
c.*394T>C (n.*394T>C)
 gnomAD v4 COSMIC COSMIC
Xg.48905409A>TCA412895836SLC35A2c.500T>A (p.Leu167Gln)
c.355-517T>A (n.355-517T>A)
c.427-517T>A (n.427-517T>A)
c.212-150T>A
c.284T>A (p.Leu95Gln)
c.584T>A (p.Leu195Gln)
c.539T>A (p.Leu180Gln)
c.*120T>A (n.*120T>A)
c.461T>A (p.Leu154Gln)
c.424+983T>A
c.317T>A (p.Leu106Gln)
c.*394T>A (n.*394T>A)
Xg.48905410G>ACA516360378SLC35A2c.499C>T (p.Leu167=)
c.355-518C>T (n.355-518C>T)
c.427-518C>T (n.427-518C>T)
c.212-151C>T
c.283C>T (p.Leu95=)
c.583C>T (p.Leu195=)
c.538C>T (p.Leu180=)
c.*119C>T (n.*119C>T)
c.460C>T (p.Leu154=)
c.424+982C>T
c.316C>T (p.Leu106=)
c.*393C>T (n.*393C>T)
 gnomAD v4
Xg.48905410G>CCA412895837SLC35A2c.499C>G (p.Leu167Val)
c.355-518C>G (n.355-518C>G)
c.427-518C>G (n.427-518C>G)
c.212-151C>G
c.283C>G (p.Leu95Val)
c.583C>G (p.Leu195Val)
c.538C>G (p.Leu180Val)
c.*119C>G (n.*119C>G)
c.460C>G (p.Leu154Val)
c.424+982C>G
c.316C>G (p.Leu106Val)
c.*393C>G (n.*393C>G)
Xg.48905410G>TCA412895838SLC35A2c.499C>A (p.Leu167Met)
c.355-518C>A (n.355-518C>A)
c.427-518C>A (n.427-518C>A)
c.212-151C>A
c.283C>A (p.Leu95Met)
c.583C>A (p.Leu195Met)
c.538C>A (p.Leu180Met)
c.*119C>A (n.*119C>A)
c.460C>A (p.Leu154Met)
c.424+982C>A
c.316C>A (p.Leu106Met)
c.*393C>A (n.*393C>A)
 gnomAD v4
Xg.48905411C>ACA516360379SLC35A2c.498G>T (p.Arg166=)
c.355-519G>T (n.355-519G>T)
c.427-519G>T (n.427-519G>T)
c.212-152G>T
c.282G>T (p.Arg94=)
c.582G>T (p.Arg194=)
c.537G>T (p.Arg179=)
c.*118G>T (n.*118G>T)
c.459G>T (p.Arg153=)
c.424+981G>T
c.315G>T (p.Arg105=)
c.*392G>T (n.*392G>T)
 gnomAD v4
Xg.48905411C=CA2428428965SLC35A2c.498G= (p.Arg166=)
c.355-519G= (n.355-519G=)
c.427-519G= (n.427-519G=)
c.212-152G=
c.282G= (p.Arg94=)
c.582G= (p.Arg194=)
c.537G= (p.Arg179=)
c.*118G= (n.*118G=)
c.459G= (p.Arg153=)
c.424+981G=
c.315G= (p.Arg105=)
c.*392G= (n.*392G=)
Xg.48905411C>GCA516360380SLC35A2c.498G>C (p.Arg166=)
c.355-519G>C (n.355-519G>C)
c.427-519G>C (n.427-519G>C)
c.212-152G>C
c.282G>C (p.Arg94=)
c.582G>C (p.Arg194=)
c.537G>C (p.Arg179=)
c.*118G>C (n.*118G>C)
c.459G>C (p.Arg153=)
c.424+981G>C
c.315G>C (p.Arg105=)
c.*392G>C (n.*392G>C)
 gnomAD v4
Xg.48905411C>TCA516360381SLC35A2c.498G>A (p.Arg166=)
c.355-519G>A (n.355-519G>A)
c.427-519G>A (n.427-519G>A)
c.212-152G>A
c.282G>A (p.Arg94=)
c.582G>A (p.Arg194=)
c.537G>A (p.Arg179=)
c.*118G>A (n.*118G>A)
c.459G>A (p.Arg153=)
c.424+981G>A
c.315G>A (p.Arg105=)
c.*392G>A (n.*392G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905412C>ACA412895839SLC35A2c.497G>T (p.Arg166Leu)
c.355-520G>T (n.355-520G>T)
c.427-520G>T (n.427-520G>T)
c.212-153G>T
c.281G>T (p.Arg94Leu)
c.581G>T (p.Arg194Leu)
c.536G>T (p.Arg179Leu)
c.*117G>T (n.*117G>T)
c.458G>T (p.Arg153Leu)
c.424+980G>T
c.314G>T (p.Arg105Leu)
c.*391G>T (n.*391G>T)
 gnomAD v4
Xg.48905412C=CA2428428966SLC35A2c.497G= (p.Arg166=)
c.355-520G= (n.355-520G=)
c.427-520G= (n.427-520G=)
c.212-153G=
c.281G= (p.Arg94=)
c.581G= (p.Arg194=)
c.536G= (p.Arg179=)
c.*117G= (n.*117G=)
c.458G= (p.Arg153=)
c.424+980G=
c.314G= (p.Arg105=)
c.*391G= (n.*391G=)
Xg.48905412C>GCA412895840SLC35A2c.497G>C (p.Arg166Pro)
c.355-520G>C (n.355-520G>C)
c.427-520G>C (n.427-520G>C)
c.212-153G>C
c.281G>C (p.Arg94Pro)
c.581G>C (p.Arg194Pro)
c.536G>C (p.Arg179Pro)
c.*117G>C (n.*117G>C)
c.458G>C (p.Arg153Pro)
c.424+980G>C
c.314G>C (p.Arg105Pro)
c.*391G>C (n.*391G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905412C>TCA10406122SLC35A2c.497G>A (p.Arg166Gln)
c.355-520G>A (n.355-520G>A)
c.427-520G>A (n.427-520G>A)
c.212-153G>A
c.281G>A (p.Arg94Gln)
c.581G>A (p.Arg194Gln)
c.536G>A (p.Arg179Gln)
c.*117G>A (n.*117G>A)
c.458G>A (p.Arg153Gln)
c.424+980G>A
c.314G>A (p.Arg105Gln)
c.*391G>A (n.*391G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905412_48905413insTTTCCCGGCTGCAGTCA2511440137SLC35A2c.496_497insACTGCAGCCGGGAAA (p.Ser165_Arg166insHisCysSerArgGlu)
c.355-521_355-520insACTGCAGCCGGGAAA (n.355-521_355-520insACTGCAGCCGGGAAA)
c.427-521_427-520insACTGCAGCCGGGAAA (n.427-521_427-520insACTGCAGCCGGGAAA)
c.212-154_212-153insACTGCAGCCGGGAAA
c.280_281insACTGCAGCCGGGAAA (p.Ser93_Arg94insHisCysSerArgGlu)
c.580_581insACTGCAGCCGGGAAA (p.Ser193_Arg194insHisCysSerArgGlu)
c.535_536insACTGCAGCCGGGAAA (p.Ser178_Arg179insHisCysSerArgGlu)
c.*116_*117insACTGCAGCCGGGAAA (n.*116_*117insACTGCAGCCGGGAAA)
c.457_458insACTGCAGCCGGGAAA (p.Ser152_Arg153insHisCysSerArgGlu)
c.424+979_424+980insACTGCAGCCGGGAAA
c.313_314insACTGCAGCCGGGAAA (p.Ser104_Arg105insHisCysSerArgGlu)
c.*390_*391insACTGCAGCCGGGAAA (n.*390_*391insACTGCAGCCGGGAAA)
Xg.48905413G>ACA10406123SLC35A2c.496C>T (p.Arg166Trp)
c.355-521C>T (n.355-521C>T)
c.427-521C>T (n.427-521C>T)
c.212-154C>T
c.280C>T (p.Arg94Trp)
c.580C>T (p.Arg194Trp)
c.535C>T (p.Arg179Trp)
c.*116C>T (n.*116C>T)
c.457C>T (p.Arg153Trp)
c.424+979C>T
c.313C>T (p.Arg105Trp)
c.*390C>T (n.*390C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905413G>CCA412895841SLC35A2c.496C>G (p.Arg166Gly)
c.355-521C>G (n.355-521C>G)
c.427-521C>G (n.427-521C>G)
c.212-154C>G
c.280C>G (p.Arg94Gly)
c.580C>G (p.Arg194Gly)
c.535C>G (p.Arg179Gly)
c.*116C>G (n.*116C>G)
c.457C>G (p.Arg153Gly)
c.424+979C>G
c.313C>G (p.Arg105Gly)
c.*390C>G (n.*390C>G)
Xg.48905413G=CA2428428967SLC35A2c.496C= (p.Arg166=)
c.355-521C= (n.355-521C=)
c.427-521C= (n.427-521C=)
c.212-154C=
c.280C= (p.Arg94=)
c.580C= (p.Arg194=)
c.535C= (p.Arg179=)
c.*116C= (n.*116C=)
c.457C= (p.Arg153=)
c.424+979C=
c.313C= (p.Arg105=)
c.*390C= (n.*390C=)
Xg.48905413G>TCA516360382SLC35A2c.496C>A (p.Arg166=)
c.355-521C>A (n.355-521C>A)
c.427-521C>A (n.427-521C>A)
c.212-154C>A
c.280C>A (p.Arg94=)
c.580C>A (p.Arg194=)
c.535C>A (p.Arg179=)
c.*116C>A (n.*116C>A)
c.457C>A (p.Arg153=)
c.424+979C>A
c.313C>A (p.Arg105=)
c.*390C>A (n.*390C>A)
Xg.48905414G>ACA516360383SLC35A2c.495C>T (p.Ser165=)
c.355-522C>T (n.355-522C>T)
c.427-522C>T (n.427-522C>T)
c.212-155C>T
c.279C>T (p.Ser93=)
c.579C>T (p.Ser193=)
c.534C>T (p.Ser178=)
c.*115C>T (n.*115C>T)
c.456C>T (p.Ser152=)
c.424+978C>T
c.312C>T (p.Ser104=)
c.*389C>T (n.*389C>T)
 gnomAD v4
Xg.48905414G>CCA516360384SLC35A2c.495C>G (p.Ser165=)
c.355-522C>G (n.355-522C>G)
c.427-522C>G (n.427-522C>G)
c.212-155C>G
c.279C>G (p.Ser93=)
c.579C>G (p.Ser193=)
c.534C>G (p.Ser178=)
c.*115C>G (n.*115C>G)
c.456C>G (p.Ser152=)
c.424+978C>G
c.312C>G (p.Ser104=)
c.*389C>G (n.*389C>G)
Xg.48905414G>TCA516360386SLC35A2c.495C>A (p.Ser165=)
c.355-522C>A (n.355-522C>A)
c.427-522C>A (n.427-522C>A)
c.212-155C>A
c.279C>A (p.Ser93=)
c.579C>A (p.Ser193=)
c.534C>A (p.Ser178=)
c.*115C>A (n.*115C>A)
c.456C>A (p.Ser152=)
c.424+978C>A
c.312C>A (p.Ser104=)
c.*389C>A (n.*389C>A)
 dbSNP
Xg.48905415G>ACA412895844SLC35A2c.494C>T (p.Ser165Phe)
c.355-523C>T (n.355-523C>T)
c.427-523C>T (n.427-523C>T)
c.212-156C>T
c.278C>T (p.Ser93Phe)
c.578C>T (p.Ser193Phe)
c.533C>T (p.Ser178Phe)
c.*114C>T (n.*114C>T)
c.455C>T (p.Ser152Phe)
c.424+977C>T
c.311C>T (p.Ser104Phe)
c.*388C>T (n.*388C>T)
 gnomAD v4
Xg.48905415G>CCA412895842SLC35A2c.494C>G (p.Ser165Cys)
c.355-523C>G (n.355-523C>G)
c.427-523C>G (n.427-523C>G)
c.212-156C>G
c.278C>G (p.Ser93Cys)
c.578C>G (p.Ser193Cys)
c.533C>G (p.Ser178Cys)
c.*114C>G (n.*114C>G)
c.455C>G (p.Ser152Cys)
c.424+977C>G
c.311C>G (p.Ser104Cys)
c.*388C>G (n.*388C>G)
Xg.48905415G>TCA412895843SLC35A2c.494C>A (p.Ser165Tyr)
c.355-523C>A (n.355-523C>A)
c.427-523C>A (n.427-523C>A)
c.212-156C>A
c.278C>A (p.Ser93Tyr)
c.578C>A (p.Ser193Tyr)
c.533C>A (p.Ser178Tyr)
c.*114C>A (n.*114C>A)
c.455C>A (p.Ser152Tyr)
c.424+977C>A
c.311C>A (p.Ser104Tyr)
c.*388C>A (n.*388C>A)
 gnomAD v4
Xg.48905416A>CCA412895845SLC35A2c.493T>G (p.Ser165Ala)
c.355-524T>G (n.355-524T>G)
c.427-524T>G (n.427-524T>G)
c.212-157T>G
c.277T>G (p.Ser93Ala)
c.577T>G (p.Ser193Ala)
c.532T>G (p.Ser178Ala)
c.*113T>G (n.*113T>G)
c.454T>G (p.Ser152Ala)
c.424+976T>G
c.310T>G (p.Ser104Ala)
c.*387T>G (n.*387T>G)
Xg.48905416A>GCA412895846SLC35A2c.493T>C (p.Ser165Pro)
c.355-524T>C (n.355-524T>C)
c.427-524T>C (n.427-524T>C)
c.212-157T>C
c.277T>C (p.Ser93Pro)
c.577T>C (p.Ser193Pro)
c.532T>C (p.Ser178Pro)
c.*113T>C (n.*113T>C)
c.454T>C (p.Ser152Pro)
c.424+976T>C
c.310T>C (p.Ser104Pro)
c.*387T>C (n.*387T>C)
 gnomAD v4
Xg.48905416A>TCA412895847SLC35A2c.493T>A (p.Ser165Thr)
c.355-524T>A (n.355-524T>A)
c.427-524T>A (n.427-524T>A)
c.212-157T>A
c.277T>A (p.Ser93Thr)
c.577T>A (p.Ser193Thr)
c.532T>A (p.Ser178Thr)
c.*113T>A (n.*113T>A)
c.454T>A (p.Ser152Thr)
c.424+976T>A
c.310T>A (p.Ser104Thr)
c.*387T>A (n.*387T>A)
Xg.48905417A>CCA516360387SLC35A2c.492T>G (p.Leu164=)
c.355-525T>G (n.355-525T>G)
c.427-525T>G (n.427-525T>G)
c.212-158T>G
c.276T>G (p.Leu92=)
c.576T>G (p.Leu192=)
c.531T>G (p.Leu177=)
c.*112T>G (n.*112T>G)
c.453T>G (p.Leu151=)
c.424+975T>G
c.309T>G (p.Leu103=)
c.*386T>G (n.*386T>G)
Xg.48905417A>GCA516360388SLC35A2c.492T>C (p.Leu164=)
c.355-525T>C (n.355-525T>C)
c.427-525T>C (n.427-525T>C)
c.212-158T>C
c.276T>C (p.Leu92=)
c.576T>C (p.Leu192=)
c.531T>C (p.Leu177=)
c.*112T>C (n.*112T>C)
c.453T>C (p.Leu151=)
c.424+975T>C
c.309T>C (p.Leu103=)
c.*386T>C (n.*386T>C)
Xg.48905417A>TCA516360389SLC35A2c.492T>A (p.Leu164=)
c.355-525T>A (n.355-525T>A)
c.427-525T>A (n.427-525T>A)
c.212-158T>A
c.276T>A (p.Leu92=)
c.576T>A (p.Leu192=)
c.531T>A (p.Leu177=)
c.*112T>A (n.*112T>A)
c.453T>A (p.Leu151=)
c.424+975T>A
c.309T>A (p.Leu103=)
c.*386T>A (n.*386T>A)
Xg.48905418A>CCA412895848SLC35A2c.491T>G (p.Leu164Arg)
c.355-526T>G (n.355-526T>G)
c.427-526T>G (n.427-526T>G)
c.212-159T>G
c.275T>G (p.Leu92Arg)
c.575T>G (p.Leu192Arg)
c.530T>G (p.Leu177Arg)
c.*111T>G (n.*111T>G)
c.452T>G (p.Leu151Arg)
c.424+974T>G
c.308T>G (p.Leu103Arg)
c.*385T>G (n.*385T>G)
Xg.48905418A>GCA412895849SLC35A2c.491T>C (p.Leu164Pro)
c.355-526T>C (n.355-526T>C)
c.427-526T>C (n.427-526T>C)
c.212-159T>C
c.275T>C (p.Leu92Pro)
c.575T>C (p.Leu192Pro)
c.530T>C (p.Leu177Pro)
c.*111T>C (n.*111T>C)
c.452T>C (p.Leu151Pro)
c.424+974T>C
c.308T>C (p.Leu103Pro)
c.*385T>C (n.*385T>C)
 gnomAD v4
Xg.48905418A>TCA412895850SLC35A2c.491T>A (p.Leu164His)
c.355-526T>A (n.355-526T>A)
c.427-526T>A (n.427-526T>A)
c.212-159T>A
c.275T>A (p.Leu92His)
c.575T>A (p.Leu192His)
c.530T>A (p.Leu177His)
c.*111T>A (n.*111T>A)
c.452T>A (p.Leu151His)
c.424+974T>A
c.308T>A (p.Leu103His)
c.*385T>A (n.*385T>A)
Xg.48905419G>ACA412895851SLC35A2c.490C>T (p.Leu164Phe)
c.355-527C>T (n.355-527C>T)
c.427-527C>T (n.427-527C>T)
c.212-160C>T
c.274C>T (p.Leu92Phe)
c.574C>T (p.Leu192Phe)
c.529C>T (p.Leu177Phe)
c.*110C>T (n.*110C>T)
c.451C>T (p.Leu151Phe)
c.424+973C>T
c.307C>T (p.Leu103Phe)
c.*384C>T (n.*384C>T)
Xg.48905419G>CCA412895852SLC35A2c.490C>G (p.Leu164Val)
c.355-527C>G (n.355-527C>G)
c.427-527C>G (n.427-527C>G)
c.212-160C>G
c.274C>G (p.Leu92Val)
c.574C>G (p.Leu192Val)
c.529C>G (p.Leu177Val)
c.*110C>G (n.*110C>G)
c.451C>G (p.Leu151Val)
c.424+973C>G
c.307C>G (p.Leu103Val)
c.*384C>G (n.*384C>G)
Xg.48905419G>TCA412895853SLC35A2c.490C>A (p.Leu164Ile)
c.355-527C>A (n.355-527C>A)
c.427-527C>A (n.427-527C>A)
c.212-160C>A
c.274C>A (p.Leu92Ile)
c.574C>A (p.Leu192Ile)
c.529C>A (p.Leu177Ile)
c.*110C>A (n.*110C>A)
c.451C>A (p.Leu151Ile)
c.424+973C>A
c.307C>A (p.Leu103Ile)
c.*384C>A (n.*384C>A)
 gnomAD v4
Xg.48905420G>ACA516360392SLC35A2c.489C>T (p.Ser163=)
c.355-528C>T (n.355-528C>T)
c.427-528C>T (n.427-528C>T)
c.212-161C>T
c.273C>T (p.Ser91=)
c.573C>T (p.Ser191=)
c.528C>T (p.Ser176=)
c.*109C>T (n.*109C>T)
c.450C>T (p.Ser150=)
c.424+972C>T
c.306C>T (p.Ser102=)
c.*383C>T (n.*383C>T)
 gnomAD v4
Xg.48905420G>CCA412895854SLC35A2c.489C>G (p.Ser163Arg)
c.355-528C>G (n.355-528C>G)
c.427-528C>G (n.427-528C>G)
c.212-161C>G
c.273C>G (p.Ser91Arg)
c.573C>G (p.Ser191Arg)
c.528C>G (p.Ser176Arg)
c.*109C>G (n.*109C>G)
c.450C>G (p.Ser150Arg)
c.424+972C>G
c.306C>G (p.Ser102Arg)
c.*383C>G (n.*383C>G)
Xg.48905420G>TCA412895855SLC35A2c.489C>A (p.Ser163Arg)
c.355-528C>A (n.355-528C>A)
c.427-528C>A (n.427-528C>A)
c.212-161C>A
c.273C>A (p.Ser91Arg)
c.573C>A (p.Ser191Arg)
c.528C>A (p.Ser176Arg)
c.*109C>A (n.*109C>A)
c.450C>A (p.Ser150Arg)
c.424+972C>A
c.306C>A (p.Ser102Arg)
c.*383C>A (n.*383C>A)
 gnomAD v4
Xg.48905421C>ACA412895856SLC35A2c.488G>T (p.Ser163Ile)
c.355-529G>T (n.355-529G>T)
c.427-529G>T (n.427-529G>T)
c.212-162G>T
c.272G>T (p.Ser91Ile)
c.572G>T (p.Ser191Ile)
c.527G>T (p.Ser176Ile)
c.*108G>T (n.*108G>T)
c.449G>T (p.Ser150Ile)
c.424+971G>T
c.305G>T (p.Ser102Ile)
c.*382G>T (n.*382G>T)
 gnomAD v4
Xg.48905421C>GCA412895858SLC35A2c.488G>C (p.Ser163Thr)
c.355-529G>C (n.355-529G>C)
c.427-529G>C (n.427-529G>C)
c.212-162G>C
c.272G>C (p.Ser91Thr)
c.572G>C (p.Ser191Thr)
c.527G>C (p.Ser176Thr)
c.*108G>C (n.*108G>C)
c.449G>C (p.Ser150Thr)
c.424+971G>C
c.305G>C (p.Ser102Thr)
c.*382G>C (n.*382G>C)
Xg.48905421C>TCA412895857SLC35A2c.488G>A (p.Ser163Asn)
c.355-529G>A (n.355-529G>A)
c.427-529G>A (n.427-529G>A)
c.212-162G>A
c.272G>A (p.Ser91Asn)
c.572G>A (p.Ser191Asn)
c.527G>A (p.Ser176Asn)
c.*108G>A (n.*108G>A)
c.449G>A (p.Ser150Asn)
c.424+971G>A
c.305G>A (p.Ser102Asn)
c.*382G>A (n.*382G>A)
Xg.48905422T>ACA412895859SLC35A2c.487A>T (p.Ser163Cys)
c.355-530A>T (n.355-530A>T)
c.427-530A>T (n.427-530A>T)
c.212-163A>T
c.271A>T (p.Ser91Cys)
c.571A>T (p.Ser191Cys)
c.526A>T (p.Ser176Cys)
c.*107A>T (n.*107A>T)
c.448A>T (p.Ser150Cys)
c.424+970A>T
c.304A>T (p.Ser102Cys)
c.*381A>T (n.*381A>T)
Xg.48905422T>CCA412895861SLC35A2c.487A>G (p.Ser163Gly)
c.355-530A>G (n.355-530A>G)
c.427-530A>G (n.427-530A>G)
c.212-163A>G
c.271A>G (p.Ser91Gly)
c.571A>G (p.Ser191Gly)
c.526A>G (p.Ser176Gly)
c.*107A>G (n.*107A>G)
c.448A>G (p.Ser150Gly)
c.424+970A>G
c.304A>G (p.Ser102Gly)
c.*381A>G (n.*381A>G)
 gnomAD v4
Xg.48905422T>GCA412895860SLC35A2c.487A>C (p.Ser163Arg)
c.355-530A>C (n.355-530A>C)
c.427-530A>C (n.427-530A>C)
c.212-163A>C
c.271A>C (p.Ser91Arg)
c.571A>C (p.Ser191Arg)
c.526A>C (p.Ser176Arg)
c.*107A>C (n.*107A>C)
c.448A>C (p.Ser150Arg)
c.424+970A>C
c.304A>C (p.Ser102Arg)
c.*381A>C (n.*381A>C)
Xg.48905423G>ACA516360021SLC35A2c.486C>T (p.Arg162=)
c.355-531C>T (n.355-531C>T)
c.427-531C>T (n.427-531C>T)
c.212-164C>T
c.270C>T (p.Arg90=)
c.570C>T (p.Arg190=)
c.525C>T (p.Arg175=)
c.*106C>T (n.*106C>T)
c.447C>T (p.Arg149=)
c.424+969C>T
c.303C>T (p.Arg101=)
c.*380C>T (n.*380C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48905423G>CCA516360020SLC35A2c.486C>G (p.Arg162=)
c.355-531C>G (n.355-531C>G)
c.427-531C>G (n.427-531C>G)
c.212-164C>G
c.270C>G (p.Arg90=)
c.570C>G (p.Arg190=)
c.525C>G (p.Arg175=)
c.*106C>G (n.*106C>G)
c.447C>G (p.Arg149=)
c.424+969C>G
c.303C>G (p.Arg101=)
c.*380C>G (n.*380C>G)
Xg.48905423G=CA2428428968SLC35A2c.486C= (p.Arg162=)
c.355-531C= (n.355-531C=)
c.427-531C= (n.427-531C=)
c.212-164C=
c.270C= (p.Arg90=)
c.570C= (p.Arg190=)
c.525C= (p.Arg175=)
c.*106C= (n.*106C=)
c.447C= (p.Arg149=)
c.424+969C=
c.303C= (p.Arg101=)
c.*380C= (n.*380C=)
Xg.48905423G>TCA516360017SLC35A2c.486C>A (p.Arg162=)
c.355-531C>A (n.355-531C>A)
c.427-531C>A (n.427-531C>A)
c.212-164C>A
c.270C>A (p.Arg90=)
c.570C>A (p.Arg190=)
c.525C>A (p.Arg175=)
c.*106C>A (n.*106C>A)
c.447C>A (p.Arg149=)
c.424+969C>A
c.303C>A (p.Arg101=)
c.*380C>A (n.*380C>A)
Xg.48905424C>ACA412895863SLC35A2c.485G>T (p.Arg162Leu)
c.355-532G>T (n.355-532G>T)
c.427-532G>T (n.427-532G>T)
c.212-165G>T
c.269G>T (p.Arg90Leu)
c.569G>T (p.Arg190Leu)
c.524G>T (p.Arg175Leu)
c.*105G>T (n.*105G>T)
c.446G>T (p.Arg149Leu)
c.424+968G>T
c.302G>T (p.Arg101Leu)
c.*379G>T (n.*379G>T)
 gnomAD v4
Xg.48905424C=CA2428428969SLC35A2c.485G= (p.Arg162=)
c.355-532G= (n.355-532G=)
c.427-532G= (n.427-532G=)
c.212-165G=
c.269G= (p.Arg90=)
c.569G= (p.Arg190=)
c.524G= (p.Arg175=)
c.*105G= (n.*105G=)
c.446G= (p.Arg149=)
c.424+968G=
c.302G= (p.Arg101=)
c.*379G= (n.*379G=)
Xg.48905424C>GCA412895864SLC35A2c.485G>C (p.Arg162Pro)
c.355-532G>C (n.355-532G>C)
c.427-532G>C (n.427-532G>C)
c.212-165G>C
c.269G>C (p.Arg90Pro)
c.569G>C (p.Arg190Pro)
c.524G>C (p.Arg175Pro)
c.*105G>C (n.*105G>C)
c.446G>C (p.Arg149Pro)
c.424+968G>C
c.302G>C (p.Arg101Pro)
c.*379G>C (n.*379G>C)
Xg.48905424C>TCA10406124SLC35A2c.485G>A (p.Arg162His)
c.355-532G>A (n.355-532G>A)
c.427-532G>A (n.427-532G>A)
c.212-165G>A
c.269G>A (p.Arg90His)
c.569G>A (p.Arg190His)
c.524G>A (p.Arg175His)
c.*105G>A (n.*105G>A)
c.446G>A (p.Arg149His)
c.424+968G>A
c.302G>A (p.Arg101His)
c.*379G>A (n.*379G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48905425G>ACA412895865SLC35A2c.484C>T (p.Arg162Cys)
c.355-533C>T (n.355-533C>T)
c.427-533C>T (n.427-533C>T)
c.212-166C>T
c.268C>T (p.Arg90Cys)
c.568C>T (p.Arg190Cys)
c.523C>T (p.Arg175Cys)
c.*104C>T (n.*104C>T)
c.445C>T (p.Arg149Cys)
c.424+967C>T
c.301C>T (p.Arg101Cys)
c.*378C>T (n.*378C>T)
 ClinVar gnomAD v4
Xg.48905425G>CCA412895867SLC35A2c.484C>G (p.Arg162Gly)
c.355-533C>G (n.355-533C>G)
c.427-533C>G (n.427-533C>G)
c.212-166C>G
c.268C>G (p.Arg90Gly)
c.568C>G (p.Arg190Gly)
c.523C>G (p.Arg175Gly)
c.*104C>G (n.*104C>G)
c.445C>G (p.Arg149Gly)
c.424+967C>G
c.301C>G (p.Arg101Gly)
c.*378C>G (n.*378C>G)
Xg.48905425G>TCA412895866SLC35A2c.484C>A (p.Arg162Ser)
c.355-533C>A (n.355-533C>A)
c.427-533C>A (n.427-533C>A)
c.212-166C>A
c.268C>A (p.Arg90Ser)
c.568C>A (p.Arg190Ser)
c.523C>A (p.Arg175Ser)
c.*104C>A (n.*104C>A)
c.445C>A (p.Arg149Ser)
c.424+967C>A
c.301C>A (p.Arg101Ser)
c.*378C>A (n.*378C>A)
 ClinVar dbSNP
Xg.48905426A>CCA412895868SLC35A2c.483T>G (p.Asn161Lys)
c.355-534T>G (n.355-534T>G)
c.427-534T>G (n.427-534T>G)
c.212-167T>G
c.267T>G (p.Asn89Lys)
c.567T>G (p.Asn189Lys)
c.522T>G (p.Asn174Lys)
c.*103T>G (n.*103T>G)
c.444T>G (p.Asn148Lys)
c.424+966T>G
c.300T>G (p.Asn100Lys)
c.*377T>G (n.*377T>G)
Xg.48905426A>GCA516360029SLC35A2c.483T>C (p.Asn161=)
c.355-534T>C (n.355-534T>C)
c.427-534T>C (n.427-534T>C)
c.212-167T>C
c.267T>C (p.Asn89=)
c.567T>C (p.Asn189=)
c.522T>C (p.Asn174=)
c.*103T>C (n.*103T>C)
c.444T>C (p.Asn148=)
c.424+966T>C
c.300T>C (p.Asn100=)
c.*377T>C (n.*377T>C)
Xg.48905426A>TCA412895869SLC35A2c.483T>A (p.Asn161Lys)
c.355-534T>A (n.355-534T>A)
c.427-534T>A (n.427-534T>A)
c.212-167T>A
c.267T>A (p.Asn89Lys)
c.567T>A (p.Asn189Lys)
c.522T>A (p.Asn174Lys)
c.*103T>A (n.*103T>A)
c.444T>A (p.Asn148Lys)
c.424+966T>A
c.300T>A (p.Asn100Lys)
c.*377T>A (n.*377T>A)
Xg.48905427T>ACA412895870SLC35A2c.482A>T (p.Asn161Ile)
c.355-535A>T (n.355-535A>T)
c.427-535A>T (n.427-535A>T)
c.212-168A>T
c.266A>T (p.Asn89Ile)
c.566A>T (p.Asn189Ile)
c.521A>T (p.Asn174Ile)
c.*102A>T (n.*102A>T)
c.443A>T (p.Asn148Ile)
c.424+965A>T
c.299A>T (p.Asn100Ile)
c.*376A>T (n.*376A>T)
Xg.48905427T>CCA412895871SLC35A2c.482A>G (p.Asn161Ser)
c.355-535A>G (n.355-535A>G)
c.427-535A>G (n.427-535A>G)
c.212-168A>G
c.266A>G (p.Asn89Ser)
c.566A>G (p.Asn189Ser)
c.521A>G (p.Asn174Ser)
c.*102A>G (n.*102A>G)
c.443A>G (p.Asn148Ser)
c.424+965A>G
c.299A>G (p.Asn100Ser)
c.*376A>G (n.*376A>G)
 gnomAD v4
Xg.48905427T>GCA412895872SLC35A2c.482A>C (p.Asn161Thr)
c.355-535A>C (n.355-535A>C)
c.427-535A>C (n.427-535A>C)
c.212-168A>C
c.266A>C (p.Asn89Thr)
c.566A>C (p.Asn189Thr)
c.521A>C (p.Asn174Thr)
c.*102A>C (n.*102A>C)
c.443A>C (p.Asn148Thr)
c.424+965A>C
c.299A>C (p.Asn100Thr)
c.*376A>C (n.*376A>C)
Xg.48905428T>ACA412895873SLC35A2c.481A>T (p.Asn161Tyr)
c.355-536A>T (n.355-536A>T)
c.427-536A>T (n.427-536A>T)
c.212-169A>T
c.265A>T (p.Asn89Tyr)
c.565A>T (p.Asn189Tyr)
c.520A>T (p.Asn174Tyr)
c.*101A>T (n.*101A>T)
c.442A>T (p.Asn148Tyr)
c.424+964A>T
c.298A>T (p.Asn100Tyr)
c.*375A>T (n.*375A>T)
Xg.48905428T>CCA329099030SLC35A2c.481A>G (p.Asn161Asp)
c.355-536A>G (n.355-536A>G)
c.427-536A>G (n.427-536A>G)
c.212-169A>G
c.265A>G (p.Asn89Asp)
c.565A>G (p.Asn189Asp)
c.520A>G (p.Asn174Asp)
c.*101A>G (n.*101A>G)
c.442A>G (p.Asn148Asp)
c.424+964A>G
c.298A>G (p.Asn100Asp)
c.*375A>G (n.*375A>G)
 dbSNP
Xg.48905428T>GCA412895874SLC35A2c.481A>C (p.Asn161His)
c.355-536A>C (n.355-536A>C)
c.427-536A>C (n.427-536A>C)
c.212-169A>C
c.265A>C (p.Asn89His)
c.565A>C (p.Asn189His)
c.520A>C (p.Asn174His)
c.*101A>C (n.*101A>C)
c.442A>C (p.Asn148His)
c.424+964A>C
c.298A>C (p.Asn100His)
c.*375A>C (n.*375A>C)
Xg.48905428T=CA2428428970SLC35A2c.481A= (p.Asn161=)
c.355-536A= (n.355-536A=)
c.427-536A= (n.427-536A=)
c.212-169A=
c.265A= (p.Asn89=)
c.565A= (p.Asn189=)
c.520A= (p.Asn174=)
c.*101A= (n.*101A=)
c.442A= (p.Asn148=)
c.424+964A=
c.298A= (p.Asn100=)
c.*375A= (n.*375A=)
Xg.48905429C>ACA516360038SLC35A2c.480G>T (p.Leu160=)
c.355-537G>T (n.355-537G>T)
c.427-537G>T (n.427-537G>T)
c.212-170G>T
c.264G>T (p.Leu88=)
c.564G>T (p.Leu188=)
c.519G>T (p.Leu173=)
c.*100G>T (n.*100G>T)
c.441G>T (p.Leu147=)
c.424+963G>T
c.297G>T (p.Leu99=)
c.*374G>T (n.*374G>T)
 gnomAD v4
Xg.48905429C>GCA516360040SLC35A2c.480G>C (p.Leu160=)
c.355-537G>C (n.355-537G>C)
c.427-537G>C (n.427-537G>C)
c.212-170G>C
c.264G>C (p.Leu88=)
c.564G>C (p.Leu188=)
c.519G>C (p.Leu173=)
c.*100G>C (n.*100G>C)
c.441G>C (p.Leu147=)
c.424+963G>C
c.297G>C (p.Leu99=)
c.*374G>C (n.*374G>C)
Xg.48905429C>TCA516360039SLC35A2c.480G>A (p.Leu160=)
c.355-537G>A (n.355-537G>A)
c.427-537G>A (n.427-537G>A)
c.212-170G>A
c.264G>A (p.Leu88=)
c.564G>A (p.Leu188=)
c.519G>A (p.Leu173=)
c.*100G>A (n.*100G>A)
c.441G>A (p.Leu147=)
c.424+963G>A
c.297G>A (p.Leu99=)
c.*374G>A (n.*374G>A)
Xg.48905430A>CCA412895875SLC35A2c.479T>G (p.Leu160Arg)
c.355-538T>G (n.355-538T>G)
c.427-538T>G (n.427-538T>G)
c.212-171T>G
c.263T>G (p.Leu88Arg)
c.563T>G (p.Leu188Arg)
c.518T>G (p.Leu173Arg)
c.*99T>G (n.*99T>G)
c.440T>G (p.Leu147Arg)
c.424+962T>G
c.296T>G (p.Leu99Arg)
c.*373T>G (n.*373T>G)
Xg.48905430A>GCA412895876SLC35A2c.479T>C (p.Leu160Pro)
c.355-538T>C (n.355-538T>C)
c.427-538T>C (n.427-538T>C)
c.212-171T>C
c.263T>C (p.Leu88Pro)
c.563T>C (p.Leu188Pro)
c.518T>C (p.Leu173Pro)
c.*99T>C (n.*99T>C)
c.440T>C (p.Leu147Pro)
c.424+962T>C
c.296T>C (p.Leu99Pro)
c.*373T>C (n.*373T>C)
 gnomAD v4
Xg.48905430A>TCA412895877SLC35A2c.479T>A (p.Leu160Gln)
c.355-538T>A (n.355-538T>A)
c.427-538T>A (n.427-538T>A)
c.212-171T>A
c.263T>A (p.Leu88Gln)
c.563T>A (p.Leu188Gln)
c.518T>A (p.Leu173Gln)
c.*99T>A (n.*99T>A)
c.440T>A (p.Leu147Gln)
c.424+962T>A
c.296T>A (p.Leu99Gln)
c.*373T>A (n.*373T>A)
Xg.48905431G>ACA516360044SLC35A2c.478C>T (p.Leu160=)
c.355-539C>T (n.355-539C>T)
c.427-539C>T (n.427-539C>T)
c.212-172C>T
c.262C>T (p.Leu88=)
c.562C>T (p.Leu188=)
c.517C>T (p.Leu173=)
c.*98C>T (n.*98C>T)
c.439C>T (p.Leu147=)
c.424+961C>T
c.295C>T (p.Leu99=)
c.*372C>T (n.*372C>T)
Xg.48905431G>CCA412895878SLC35A2c.478C>G (p.Leu160Val)
c.355-539C>G (n.355-539C>G)
c.427-539C>G (n.427-539C>G)
c.212-172C>G
c.262C>G (p.Leu88Val)
c.562C>G (p.Leu188Val)
c.517C>G (p.Leu173Val)
c.*98C>G (n.*98C>G)
c.439C>G (p.Leu147Val)
c.424+961C>G
c.295C>G (p.Leu99Val)
c.*372C>G (n.*372C>G)
Xg.48905431G>TCA412895879SLC35A2c.478C>A (p.Leu160Met)
c.355-539C>A (n.355-539C>A)
c.427-539C>A (n.427-539C>A)
c.212-172C>A
c.262C>A (p.Leu88Met)
c.562C>A (p.Leu188Met)
c.517C>A (p.Leu173Met)
c.*98C>A (n.*98C>A)
c.439C>A (p.Leu147Met)
c.424+961C>A
c.295C>A (p.Leu99Met)
c.*372C>A (n.*372C>A)
 gnomAD v4
Xg.48905432C>ACA412895880SLC35A2c.477G>T (p.Met159Ile)
c.355-540G>T (n.355-540G>T)
c.427-540G>T (n.427-540G>T)
c.212-173G>T
c.261G>T (p.Met87Ile)
c.561G>T (p.Met187Ile)
c.516G>T (p.Met172Ile)
c.*97G>T (n.*97G>T)
c.438G>T (p.Met146Ile)
c.424+960G>T
c.294G>T (p.Met98Ile)
c.*371G>T (n.*371G>T)
Xg.48905432C>GCA412895882SLC35A2c.477G>C (p.Met159Ile)
c.355-540G>C (n.355-540G>C)
c.427-540G>C (n.427-540G>C)
c.212-173G>C
c.261G>C (p.Met87Ile)
c.561G>C (p.Met187Ile)
c.516G>C (p.Met172Ile)
c.*97G>C (n.*97G>C)
c.438G>C (p.Met146Ile)
c.424+960G>C
c.294G>C (p.Met98Ile)
c.*371G>C (n.*371G>C)
Xg.48905432C>TCA412895881SLC35A2c.477G>A (p.Met159Ile)
c.355-540G>A (n.355-540G>A)
c.427-540G>A (n.427-540G>A)
c.212-173G>A
c.261G>A (p.Met87Ile)
c.561G>A (p.Met187Ile)
c.516G>A (p.Met172Ile)
c.*97G>A (n.*97G>A)
c.438G>A (p.Met146Ile)
c.424+960G>A
c.294G>A (p.Met98Ile)
c.*371G>A (n.*371G>A)
 gnomAD v4
Xg.48905433A>CCA412895883SLC35A2c.476T>G (p.Met159Arg)
c.355-541T>G (n.355-541T>G)
c.427-541T>G (n.427-541T>G)
c.212-174T>G
c.260T>G (p.Met87Arg)
c.560T>G (p.Met187Arg)
c.515T>G (p.Met172Arg)
c.*96T>G (n.*96T>G)
c.437T>G (p.Met146Arg)
c.424+959T>G
c.293T>G (p.Met98Arg)
c.*370T>G (n.*370T>G)
Xg.48905433A>GCA412895884SLC35A2c.476T>C (p.Met159Thr)
c.355-541T>C (n.355-541T>C)
c.427-541T>C (n.427-541T>C)
c.212-174T>C
c.260T>C (p.Met87Thr)
c.560T>C (p.Met187Thr)
c.515T>C (p.Met172Thr)
c.*96T>C (n.*96T>C)
c.437T>C (p.Met146Thr)
c.424+959T>C
c.293T>C (p.Met98Thr)
c.*370T>C (n.*370T>C)
Xg.48905433A>TCA412895885SLC35A2c.476T>A (p.Met159Lys)
c.355-541T>A (n.355-541T>A)
c.427-541T>A (n.427-541T>A)
c.212-174T>A
c.260T>A (p.Met87Lys)
c.560T>A (p.Met187Lys)
c.515T>A (p.Met172Lys)
c.*96T>A (n.*96T>A)
c.437T>A (p.Met146Lys)
c.424+959T>A
c.293T>A (p.Met98Lys)
c.*370T>A (n.*370T>A)
Xg.48905434T>ACA412895886SLC35A2c.475A>T (p.Met159Leu)
c.355-542A>T (n.355-542A>T)
c.427-542A>T (n.427-542A>T)
c.212-175A>T
c.259A>T (p.Met87Leu)
c.559A>T (p.Met187Leu)
c.514A>T (p.Met172Leu)
c.*95A>T (n.*95A>T)
c.436A>T (p.Met146Leu)
c.424+958A>T
c.292A>T (p.Met98Leu)
c.*369A>T (n.*369A>T)
Xg.48905434T>CCA412895887SLC35A2c.475A>G (p.Met159Val)
c.355-542A>G (n.355-542A>G)
c.427-542A>G (n.427-542A>G)
c.212-175A>G
c.259A>G (p.Met87Val)
c.559A>G (p.Met187Val)
c.514A>G (p.Met172Val)
c.*95A>G (n.*95A>G)
c.436A>G (p.Met146Val)
c.424+958A>G
c.292A>G (p.Met98Val)
c.*369A>G (n.*369A>G)
Xg.48905434T>GCA412895888SLC35A2c.475A>C (p.Met159Leu)
c.355-542A>C (n.355-542A>C)
c.427-542A>C (n.427-542A>C)
c.212-175A>C
c.259A>C (p.Met87Leu)
c.559A>C (p.Met187Leu)
c.514A>C (p.Met172Leu)
c.*95A>C (n.*95A>C)
c.436A>C (p.Met146Leu)
c.424+958A>C
c.292A>C (p.Met98Leu)
c.*369A>C (n.*369A>C)
Xg.48905435G>ACA516360049SLC35A2c.474C>T (p.Leu158=)
c.355-543C>T (n.355-543C>T)
c.427-543C>T (n.427-543C>T)
c.212-176C>T
c.258C>T (p.Leu86=)
c.558C>T (p.Leu186=)
c.513C>T (p.Leu171=)
c.*94C>T (n.*94C>T)
c.435C>T (p.Leu145=)
c.424+957C>T
c.291C>T (p.Leu97=)
c.*368C>T (n.*368C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905435G>CCA516360050SLC35A2c.474C>G (p.Leu158=)
c.355-543C>G (n.355-543C>G)
c.427-543C>G (n.427-543C>G)
c.212-176C>G
c.258C>G (p.Leu86=)
c.558C>G (p.Leu186=)
c.513C>G (p.Leu171=)
c.*94C>G (n.*94C>G)
c.435C>G (p.Leu145=)
c.424+957C>G
c.291C>G (p.Leu97=)
c.*368C>G (n.*368C>G)
Xg.48905435G=CA2428428971SLC35A2c.474C= (p.Leu158=)
c.355-543C= (n.355-543C=)
c.427-543C= (n.427-543C=)
c.212-176C=
c.258C= (p.Leu86=)
c.558C= (p.Leu186=)
c.513C= (p.Leu171=)
c.*94C= (n.*94C=)
c.435C= (p.Leu145=)
c.424+957C=
c.291C= (p.Leu97=)
c.*368C= (n.*368C=)
Xg.48905435G>TCA516360052SLC35A2c.474C>A (p.Leu158=)
c.355-543C>A (n.355-543C>A)
c.427-543C>A (n.427-543C>A)
c.212-176C>A
c.258C>A (p.Leu86=)
c.558C>A (p.Leu186=)
c.513C>A (p.Leu171=)
c.*94C>A (n.*94C>A)
c.435C>A (p.Leu145=)
c.424+957C>A
c.291C>A (p.Leu97=)
c.*368C>A (n.*368C>A)
 gnomAD v4
Xg.48905436A>CCA412895889SLC35A2c.473T>G (p.Leu158Arg)
c.355-544T>G (n.355-544T>G)
c.427-544T>G (n.427-544T>G)
c.212-177T>G
c.257T>G (p.Leu86Arg)
c.557T>G (p.Leu186Arg)
c.512T>G (p.Leu171Arg)
c.*93T>G (n.*93T>G)
c.434T>G (p.Leu145Arg)
c.424+956T>G
c.290T>G (p.Leu97Arg)
c.*367T>G (n.*367T>G)
Xg.48905436A>GCA412895890SLC35A2c.473T>C (p.Leu158Pro)
c.355-544T>C (n.355-544T>C)
c.427-544T>C (n.427-544T>C)
c.212-177T>C
c.257T>C (p.Leu86Pro)
c.557T>C (p.Leu186Pro)
c.512T>C (p.Leu171Pro)
c.*93T>C (n.*93T>C)
c.434T>C (p.Leu145Pro)
c.424+956T>C
c.290T>C (p.Leu97Pro)
c.*367T>C (n.*367T>C)
 gnomAD v4
Xg.48905436A>TCA412895891SLC35A2c.473T>A (p.Leu158His)
c.355-544T>A (n.355-544T>A)
c.427-544T>A (n.427-544T>A)
c.212-177T>A
c.257T>A (p.Leu86His)
c.557T>A (p.Leu186His)
c.512T>A (p.Leu171His)
c.*93T>A (n.*93T>A)
c.434T>A (p.Leu145His)
c.424+956T>A
c.290T>A (p.Leu97His)
c.*367T>A (n.*367T>A)
Xg.48905437G>ACA412895894SLC35A2c.472C>T (p.Leu158Phe)
c.355-545C>T (n.355-545C>T)
c.427-545C>T (n.427-545C>T)
c.212-178C>T
c.256C>T (p.Leu86Phe)
c.556C>T (p.Leu186Phe)
c.511C>T (p.Leu171Phe)
c.*92C>T (n.*92C>T)
c.433C>T (p.Leu145Phe)
c.424+955C>T
c.289C>T (p.Leu97Phe)
c.*366C>T (n.*366C>T)
 gnomAD v4
Xg.48905437G>CCA412895893SLC35A2c.472C>G (p.Leu158Val)
c.355-545C>G (n.355-545C>G)
c.427-545C>G (n.427-545C>G)
c.212-178C>G
c.256C>G (p.Leu86Val)
c.556C>G (p.Leu186Val)
c.511C>G (p.Leu171Val)
c.*92C>G (n.*92C>G)
c.433C>G (p.Leu145Val)
c.424+955C>G
c.289C>G (p.Leu97Val)
c.*366C>G (n.*366C>G)
Xg.48905437G>TCA412895892SLC35A2c.472C>A (p.Leu158Ile)
c.355-545C>A (n.355-545C>A)
c.427-545C>A (n.427-545C>A)
c.212-178C>A
c.256C>A (p.Leu86Ile)
c.556C>A (p.Leu186Ile)
c.511C>A (p.Leu171Ile)
c.*92C>A (n.*92C>A)
c.433C>A (p.Leu145Ile)
c.424+955C>A
c.289C>A (p.Leu97Ile)
c.*366C>A (n.*366C>A)
 gnomAD v4
Xg.48905438C>ACA516360057SLC35A2c.471G>T (p.Val157=)
c.355-546G>T (n.355-546G>T)
c.427-546G>T (n.427-546G>T)
c.212-179G>T
c.255G>T (p.Val85=)
c.555G>T (p.Val185=)
c.510G>T (p.Val170=)
c.*91G>T (n.*91G>T)
c.432G>T (p.Val144=)
c.424+954G>T
c.288G>T (p.Val96=)
c.*365G>T (n.*365G>T)
 gnomAD v4
Xg.48905438C>GCA516360056SLC35A2c.471G>C (p.Val157=)
c.355-546G>C (n.355-546G>C)
c.427-546G>C (n.427-546G>C)
c.212-179G>C
c.255G>C (p.Val85=)
c.555G>C (p.Val185=)
c.510G>C (p.Val170=)
c.*91G>C (n.*91G>C)
c.432G>C (p.Val144=)
c.424+954G>C
c.288G>C (p.Val96=)
c.*365G>C (n.*365G>C)
Xg.48905438C>TCA516360055SLC35A2c.471G>A (p.Val157=)
c.355-546G>A (n.355-546G>A)
c.427-546G>A (n.427-546G>A)
c.212-179G>A
c.255G>A (p.Val85=)
c.555G>A (p.Val185=)
c.510G>A (p.Val170=)
c.*91G>A (n.*91G>A)
c.432G>A (p.Val144=)
c.424+954G>A
c.288G>A (p.Val96=)
c.*365G>A (n.*365G>A)
 gnomAD v4
Xg.48905439A>CCA412895895SLC35A2c.470T>G (p.Val157Gly)
c.355-547T>G (n.355-547T>G)
c.427-547T>G (n.427-547T>G)
c.212-180T>G
c.254T>G (p.Val85Gly)
c.554T>G (p.Val185Gly)
c.509T>G (p.Val170Gly)
c.*90T>G (n.*90T>G)
c.431T>G (p.Val144Gly)
c.424+953T>G
c.287T>G (p.Val96Gly)
c.*364T>G (n.*364T>G)
Xg.48905439A>GCA412895896SLC35A2c.470T>C (p.Val157Ala)
c.355-547T>C (n.355-547T>C)
c.427-547T>C (n.427-547T>C)
c.212-180T>C
c.254T>C (p.Val85Ala)
c.554T>C (p.Val185Ala)
c.509T>C (p.Val170Ala)
c.*90T>C (n.*90T>C)
c.431T>C (p.Val144Ala)
c.424+953T>C
c.287T>C (p.Val96Ala)
c.*364T>C (n.*364T>C)
 gnomAD v4
Xg.48905439A>TCA412895897SLC35A2c.470T>A (p.Val157Glu)
c.355-547T>A (n.355-547T>A)
c.427-547T>A (n.427-547T>A)
c.212-180T>A
c.254T>A (p.Val85Glu)
c.554T>A (p.Val185Glu)
c.509T>A (p.Val170Glu)
c.*90T>A (n.*90T>A)
c.431T>A (p.Val144Glu)
c.424+953T>A
c.287T>A (p.Val96Glu)
c.*364T>A (n.*364T>A)
Xg.48905440C>ACA412895898SLC35A2c.469G>T (p.Val157Leu)
c.355-548G>T (n.355-548G>T)
c.427-548G>T (n.427-548G>T)
c.212-181G>T
c.253G>T (p.Val85Leu)
c.553G>T (p.Val185Leu)
c.508G>T (p.Val170Leu)
c.*89G>T (n.*89G>T)
c.430G>T (p.Val144Leu)
c.424+952G>T
c.286G>T (p.Val96Leu)
c.*363G>T (n.*363G>T)
 gnomAD v4
Xg.48905440C=CA2428428972SLC35A2c.469G= (p.Val157=)
c.355-548G= (n.355-548G=)
c.427-548G= (n.427-548G=)
c.212-181G=
c.253G= (p.Val85=)
c.553G= (p.Val185=)
c.508G= (p.Val170=)
c.*89G= (n.*89G=)
c.430G= (p.Val144=)
c.424+952G=
c.286G= (p.Val96=)
c.*363G= (n.*363G=)
Xg.48905440C>GCA412895899SLC35A2c.469G>C (p.Val157Leu)
c.355-548G>C (n.355-548G>C)
c.427-548G>C (n.427-548G>C)
c.212-181G>C
c.253G>C (p.Val85Leu)
c.553G>C (p.Val185Leu)
c.508G>C (p.Val170Leu)
c.*89G>C (n.*89G>C)
c.430G>C (p.Val144Leu)
c.424+952G>C
c.286G>C (p.Val96Leu)
c.*363G>C (n.*363G>C)
 gnomAD v4
Xg.48905440C>TCA10406125SLC35A2c.469G>A (p.Val157Met)
c.355-548G>A (n.355-548G>A)
c.427-548G>A (n.427-548G>A)
c.212-181G>A
c.253G>A (p.Val85Met)
c.553G>A (p.Val185Met)
c.508G>A (p.Val170Met)
c.*89G>A (n.*89G>A)
c.430G>A (p.Val144Met)
c.424+952G>A
c.286G>A (p.Val96Met)
c.*363G>A (n.*363G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905441G>ACA10406126SLC35A2c.468C>T (p.Ser156=)
c.355-549C>T (n.355-549C>T)
c.427-549C>T (n.427-549C>T)
c.212-182C>T
c.252C>T (p.Ser84=)
c.552C>T (p.Ser184=)
c.507C>T (p.Ser169=)
c.*88C>T (n.*88C>T)
c.429C>T (p.Ser143=)
c.424+951C>T
c.285C>T (p.Ser95=)
c.*362C>T (n.*362C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.48905441G>CCA516360069SLC35A2c.468C>G (p.Ser156=)
c.355-549C>G (n.355-549C>G)
c.427-549C>G (n.427-549C>G)
c.212-182C>G
c.252C>G (p.Ser84=)
c.552C>G (p.Ser184=)
c.507C>G (p.Ser169=)
c.*88C>G (n.*88C>G)
c.429C>G (p.Ser143=)
c.424+951C>G
c.285C>G (p.Ser95=)
c.*362C>G (n.*362C>G)
Xg.48905441G=CA2428428973SLC35A2c.468C= (p.Ser156=)
c.355-549C= (n.355-549C=)
c.427-549C= (n.427-549C=)
c.212-182C=
c.252C= (p.Ser84=)
c.552C= (p.Ser184=)
c.507C= (p.Ser169=)
c.*88C= (n.*88C=)
c.429C= (p.Ser143=)
c.424+951C=
c.285C= (p.Ser95=)
c.*362C= (n.*362C=)
Xg.48905441G>TCA516360070SLC35A2c.468C>A (p.Ser156=)
c.355-549C>A (n.355-549C>A)
c.427-549C>A (n.427-549C>A)
c.212-182C>A
c.252C>A (p.Ser84=)
c.552C>A (p.Ser184=)
c.507C>A (p.Ser169=)
c.*88C>A (n.*88C>A)
c.429C>A (p.Ser143=)
c.424+951C>A
c.285C>A (p.Ser95=)
c.*362C>A (n.*362C>A)
Xg.48905442_48905444delCA2695233843SLC35A2c.466_468del (p.Ser156del)
c.355-551_355-549del (n.355-551_355-549del)
c.427-551_427-549del (n.427-551_427-549del)
c.212-184_212-182del
c.250_252del (p.Ser84del)
c.550_552del (p.Ser184del)
c.505_507del (p.Ser169del)
c.*86_*88del (n.*86_*88del)
c.427_429del (p.Ser143del)
c.424+949_424+951del
c.283_285del (p.Ser95del)
c.*360_*362del (n.*360_*362del)
Xg.48905442G>ACA412895900SLC35A2c.467C>T (p.Ser156Phe)
c.355-550C>T (n.355-550C>T)
c.427-550C>T (n.427-550C>T)
c.212-183C>T
c.251C>T (p.Ser84Phe)
c.551C>T (p.Ser184Phe)
c.506C>T (p.Ser169Phe)
c.*87C>T (n.*87C>T)
c.428C>T (p.Ser143Phe)
c.424+950C>T
c.284C>T (p.Ser95Phe)
c.*361C>T (n.*361C>T)
 gnomAD v4
Xg.48905442G>CCA412895901SLC35A2c.467C>G (p.Ser156Cys)
c.355-550C>G (n.355-550C>G)
c.427-550C>G (n.427-550C>G)
c.212-183C>G
c.251C>G (p.Ser84Cys)
c.551C>G (p.Ser184Cys)
c.506C>G (p.Ser169Cys)
c.*87C>G (n.*87C>G)
c.428C>G (p.Ser143Cys)
c.424+950C>G
c.284C>G (p.Ser95Cys)
c.*361C>G (n.*361C>G)
Xg.48905442G>TCA412895902SLC35A2c.467C>A (p.Ser156Tyr)
c.355-550C>A (n.355-550C>A)
c.427-550C>A (n.427-550C>A)
c.212-183C>A
c.251C>A (p.Ser84Tyr)
c.551C>A (p.Ser184Tyr)
c.506C>A (p.Ser169Tyr)
c.*87C>A (n.*87C>A)
c.428C>A (p.Ser143Tyr)
c.424+950C>A
c.284C>A (p.Ser95Tyr)
c.*361C>A (n.*361C>A)
Xg.48905443A>CCA412895903SLC35A2c.466T>G (p.Ser156Ala)
c.355-551T>G (n.355-551T>G)
c.427-551T>G (n.427-551T>G)
c.212-184T>G
c.250T>G (p.Ser84Ala)
c.550T>G (p.Ser184Ala)
c.505T>G (p.Ser169Ala)
c.*86T>G (n.*86T>G)
c.427T>G (p.Ser143Ala)
c.424+949T>G
c.283T>G (p.Ser95Ala)
c.*360T>G (n.*360T>G)
Xg.48905443A>GCA412895904SLC35A2c.466T>C (p.Ser156Pro)
c.355-551T>C (n.355-551T>C)
c.427-551T>C (n.427-551T>C)
c.212-184T>C
c.250T>C (p.Ser84Pro)
c.550T>C (p.Ser184Pro)
c.505T>C (p.Ser169Pro)
c.*86T>C (n.*86T>C)
c.427T>C (p.Ser143Pro)
c.424+949T>C
c.283T>C (p.Ser95Pro)
c.*360T>C (n.*360T>C)
Xg.48905443A>TCA412895905SLC35A2c.466T>A (p.Ser156Thr)
c.355-551T>A (n.355-551T>A)
c.427-551T>A (n.427-551T>A)
c.212-184T>A
c.250T>A (p.Ser84Thr)
c.550T>A (p.Ser184Thr)
c.505T>A (p.Ser169Thr)
c.*86T>A (n.*86T>A)
c.427T>A (p.Ser143Thr)
c.424+949T>A
c.283T>A (p.Ser95Thr)
c.*360T>A (n.*360T>A)
Xg.48905444G>ACA516360075SLC35A2c.465C>T (p.Phe155=)
c.355-552C>T (n.355-552C>T)
c.427-552C>T (n.427-552C>T)
c.212-185C>T
c.249C>T (p.Phe83=)
c.549C>T (p.Phe183=)
c.504C>T (p.Phe168=)
c.*85C>T (n.*85C>T)
c.426C>T (p.Phe142=)
c.424+948C>T
c.282C>T (p.Phe94=)
c.*359C>T (n.*359C>T)
Xg.48905444G>CCA412895906SLC35A2c.465C>G (p.Phe155Leu)
c.355-552C>G (n.355-552C>G)
c.427-552C>G (n.427-552C>G)
c.212-185C>G
c.249C>G (p.Phe83Leu)
c.549C>G (p.Phe183Leu)
c.504C>G (p.Phe168Leu)
c.*85C>G (n.*85C>G)
c.426C>G (p.Phe142Leu)
c.424+948C>G
c.282C>G (p.Phe94Leu)
c.*359C>G (n.*359C>G)
 ClinVar dbSNP
Xg.48905444G=CA2428428974SLC35A2c.465C= (p.Phe155=)
c.355-552C= (n.355-552C=)
c.427-552C= (n.427-552C=)
c.212-185C=
c.249C= (p.Phe83=)
c.549C= (p.Phe183=)
c.504C= (p.Phe168=)
c.*85C= (n.*85C=)
c.426C= (p.Phe142=)
c.424+948C=
c.282C= (p.Phe94=)
c.*359C= (n.*359C=)
Xg.48905444G>TCA412895907SLC35A2c.465C>A (p.Phe155Leu)
c.355-552C>A (n.355-552C>A)
c.427-552C>A (n.427-552C>A)
c.212-185C>A
c.249C>A (p.Phe83Leu)
c.549C>A (p.Phe183Leu)
c.504C>A (p.Phe168Leu)
c.*85C>A (n.*85C>A)
c.426C>A (p.Phe142Leu)
c.424+948C>A
c.282C>A (p.Phe94Leu)
c.*359C>A (n.*359C>A)
Xg.48905445A>CCA412895908SLC35A2c.464T>G (p.Phe155Cys)
c.355-553T>G (n.355-553T>G)
c.427-553T>G (n.427-553T>G)
c.212-186T>G
c.248T>G (p.Phe83Cys)
c.548T>G (p.Phe183Cys)
c.503T>G (p.Phe168Cys)
c.*84T>G (n.*84T>G)
c.425T>G (p.Phe142Cys)
c.424+947T>G
c.281T>G (p.Phe94Cys)
c.*358T>G (n.*358T>G)
Xg.48905445A>GCA412895909SLC35A2c.464T>C (p.Phe155Ser)
c.355-553T>C (n.355-553T>C)
c.427-553T>C (n.427-553T>C)
c.212-186T>C
c.248T>C (p.Phe83Ser)
c.548T>C (p.Phe183Ser)
c.503T>C (p.Phe168Ser)
c.*84T>C (n.*84T>C)
c.425T>C (p.Phe142Ser)
c.424+947T>C
c.281T>C (p.Phe94Ser)
c.*358T>C (n.*358T>C)
Xg.48905445A>TCA412895910SLC35A2c.464T>A (p.Phe155Tyr)
c.355-553T>A (n.355-553T>A)
c.427-553T>A (n.427-553T>A)
c.212-186T>A
c.248T>A (p.Phe83Tyr)
c.548T>A (p.Phe183Tyr)
c.503T>A (p.Phe168Tyr)
c.*84T>A (n.*84T>A)
c.425T>A (p.Phe142Tyr)
c.424+947T>A
c.281T>A (p.Phe94Tyr)
c.*358T>A (n.*358T>A)
Xg.48905446A>CCA412895911SLC35A2c.463T>G (p.Phe155Val)
c.355-554T>G (n.355-554T>G)
c.427-554T>G (n.427-554T>G)
c.212-187T>G
c.247T>G (p.Phe83Val)
c.547T>G (p.Phe183Val)
c.502T>G (p.Phe168Val)
c.*83T>G (n.*83T>G)
c.424T>G (p.Phe142Val)
c.424+946T>G
c.280T>G (p.Phe94Val)
c.*357T>G (n.*357T>G)
Xg.48905446A>GCA412895912SLC35A2c.463T>C (p.Phe155Leu)
c.355-554T>C (n.355-554T>C)
c.427-554T>C (n.427-554T>C)
c.212-187T>C
c.247T>C (p.Phe83Leu)
c.547T>C (p.Phe183Leu)
c.502T>C (p.Phe168Leu)
c.*83T>C (n.*83T>C)
c.424T>C (p.Phe142Leu)
c.424+946T>C
c.280T>C (p.Phe94Leu)
c.*357T>C (n.*357T>C)
 gnomAD v4
Xg.48905446A>TCA412895913SLC35A2c.463T>A (p.Phe155Ile)
c.355-554T>A (n.355-554T>A)
c.427-554T>A (n.427-554T>A)
c.212-187T>A
c.247T>A (p.Phe83Ile)
c.547T>A (p.Phe183Ile)
c.502T>A (p.Phe168Ile)
c.*83T>A (n.*83T>A)
c.424T>A (p.Phe142Ile)
c.424+946T>A
c.280T>A (p.Phe94Ile)
c.*357T>A (n.*357T>A)
Xg.48905447C>ACA516360079SLC35A2c.462G>T (p.Leu154=)
c.355-555G>T (n.355-555G>T)
c.427-555G>T (n.427-555G>T)
c.212-188G>T
c.246G>T (p.Leu82=)
c.546G>T (p.Leu182=)
c.501G>T (p.Leu167=)
c.*82G>T (n.*82G>T)
c.423G>T (p.Leu141=)
c.424+945G>T
c.279G>T (p.Leu93=)
c.*356G>T (n.*356G>T)
Xg.48905447C>GCA516360081SLC35A2c.462G>C (p.Leu154=)
c.355-555G>C (n.355-555G>C)
c.427-555G>C (n.427-555G>C)
c.212-188G>C
c.246G>C (p.Leu82=)
c.546G>C (p.Leu182=)
c.501G>C (p.Leu167=)
c.*82G>C (n.*82G>C)
c.423G>C (p.Leu141=)
c.424+945G>C
c.279G>C (p.Leu93=)
c.*356G>C (n.*356G>C)
Xg.48905447C>TCA516360082SLC35A2c.462G>A (p.Leu154=)
c.355-555G>A (n.355-555G>A)
c.427-555G>A (n.427-555G>A)
c.212-188G>A
c.246G>A (p.Leu82=)
c.546G>A (p.Leu182=)
c.501G>A (p.Leu167=)
c.*82G>A (n.*82G>A)
c.423G>A (p.Leu141=)
c.424+945G>A
c.279G>A (p.Leu93=)
c.*356G>A (n.*356G>A)
Xg.48905448A>CCA412895914SLC35A2c.461T>G (p.Leu154Arg)
c.355-556T>G (n.355-556T>G)
c.427-556T>G (n.427-556T>G)
c.212-189T>G
c.245T>G (p.Leu82Arg)
c.545T>G (p.Leu182Arg)
c.500T>G (p.Leu167Arg)
c.*81T>G (n.*81T>G)
c.422T>G (p.Leu141Arg)
c.424+944T>G
c.278T>G (p.Leu93Arg)
c.*355T>G (n.*355T>G)
Xg.48905448A>GCA412895915SLC35A2c.461T>C (p.Leu154Pro)
c.355-556T>C (n.355-556T>C)
c.427-556T>C (n.427-556T>C)
c.212-189T>C
c.245T>C (p.Leu82Pro)
c.545T>C (p.Leu182Pro)
c.500T>C (p.Leu167Pro)
c.*81T>C (n.*81T>C)
c.422T>C (p.Leu141Pro)
c.424+944T>C
c.278T>C (p.Leu93Pro)
c.*355T>C (n.*355T>C)
Xg.48905448A>TCA412895916SLC35A2c.461T>A (p.Leu154Gln)
c.355-556T>A (n.355-556T>A)
c.427-556T>A (n.427-556T>A)
c.212-189T>A
c.245T>A (p.Leu82Gln)
c.545T>A (p.Leu182Gln)
c.500T>A (p.Leu167Gln)
c.*81T>A (n.*81T>A)
c.422T>A (p.Leu141Gln)
c.424+944T>A
c.278T>A (p.Leu93Gln)
c.*355T>A (n.*355T>A)
Xg.48905449G>ACA516360085SLC35A2c.460C>T (p.Leu154=)
c.355-557C>T (n.355-557C>T)
c.427-557C>T (n.427-557C>T)
c.212-190C>T
c.244C>T (p.Leu82=)
c.544C>T (p.Leu182=)
c.499C>T (p.Leu167=)
c.*80C>T (n.*80C>T)
c.421C>T (p.Leu141=)
c.424+943C>T
c.277C>T (p.Leu93=)
c.*354C>T (n.*354C>T)
Xg.48905449G>CCA412895917SLC35A2c.460C>G (p.Leu154Val)
c.355-557C>G (n.355-557C>G)
c.427-557C>G (n.427-557C>G)
c.212-190C>G
c.244C>G (p.Leu82Val)
c.544C>G (p.Leu182Val)
c.499C>G (p.Leu167Val)
c.*80C>G (n.*80C>G)
c.421C>G (p.Leu141Val)
c.424+943C>G
c.277C>G (p.Leu93Val)
c.*354C>G (n.*354C>G)
Xg.48905449G>TCA412895918SLC35A2c.460C>A (p.Leu154Met)
c.355-557C>A (n.355-557C>A)
c.427-557C>A (n.427-557C>A)
c.212-190C>A
c.244C>A (p.Leu82Met)
c.544C>A (p.Leu182Met)
c.499C>A (p.Leu167Met)
c.*80C>A (n.*80C>A)
c.421C>A (p.Leu141Met)
c.424+943C>A
c.277C>A (p.Leu93Met)
c.*354C>A (n.*354C>A)
Xg.48905450C>ACA516360086SLC35A2c.459G>T (p.Ala153=)
c.355-558G>T (n.355-558G>T)
c.427-558G>T (n.427-558G>T)
c.212-191G>T
c.243G>T (p.Ala81=)
c.543G>T (p.Ala181=)
c.498G>T (p.Ala166=)
c.*79G>T (n.*79G>T)
c.420G>T (p.Ala140=)
c.424+942G>T
c.276G>T (p.Ala92=)
c.*353G>T (n.*353G>T)
 gnomAD v4
Xg.48905450C=CA2428428975SLC35A2c.459G= (p.Ala153=)
c.355-558G= (n.355-558G=)
c.427-558G= (n.427-558G=)
c.212-191G=
c.243G= (p.Ala81=)
c.543G= (p.Ala181=)
c.498G= (p.Ala166=)
c.*79G= (n.*79G=)
c.420G= (p.Ala140=)
c.424+942G=
c.276G= (p.Ala92=)
c.*353G= (n.*353G=)
Xg.48905450C>GCA516360087SLC35A2c.459G>C (p.Ala153=)
c.355-558G>C (n.355-558G>C)
c.427-558G>C (n.427-558G>C)
c.212-191G>C
c.243G>C (p.Ala81=)
c.543G>C (p.Ala181=)
c.498G>C (p.Ala166=)
c.*79G>C (n.*79G>C)
c.420G>C (p.Ala140=)
c.424+942G>C
c.276G>C (p.Ala92=)
c.*353G>C (n.*353G>C)
Xg.48905450C>TCA516360088SLC35A2c.459G>A (p.Ala153=)
c.355-558G>A (n.355-558G>A)
c.427-558G>A (n.427-558G>A)
c.212-191G>A
c.243G>A (p.Ala81=)
c.543G>A (p.Ala181=)
c.498G>A (p.Ala166=)
c.*79G>A (n.*79G>A)
c.420G>A (p.Ala140=)
c.424+942G>A
c.276G>A (p.Ala92=)
c.*353G>A (n.*353G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905451G>ACA412895921SLC35A2c.458C>T (p.Ala153Val)
c.355-559C>T (n.355-559C>T)
c.427-559C>T (n.427-559C>T)
c.212-192C>T
c.242C>T (p.Ala81Val)
c.542C>T (p.Ala181Val)
c.497C>T (p.Ala166Val)
c.*78C>T (n.*78C>T)
c.419C>T (p.Ala140Val)
c.424+941C>T
c.275C>T (p.Ala92Val)
c.*352C>T (n.*352C>T)
 ClinVar gnomAD v4
Xg.48905451G>CCA412895920SLC35A2c.458C>G (p.Ala153Gly)
c.355-559C>G (n.355-559C>G)
c.427-559C>G (n.427-559C>G)
c.212-192C>G
c.242C>G (p.Ala81Gly)
c.542C>G (p.Ala181Gly)
c.497C>G (p.Ala166Gly)
c.*78C>G (n.*78C>G)
c.419C>G (p.Ala140Gly)
c.424+941C>G
c.275C>G (p.Ala92Gly)
c.*352C>G (n.*352C>G)
Xg.48905451G>TCA412895919SLC35A2c.458C>A (p.Ala153Glu)
c.355-559C>A (n.355-559C>A)
c.427-559C>A (n.427-559C>A)
c.212-192C>A
c.242C>A (p.Ala81Glu)
c.542C>A (p.Ala181Glu)
c.497C>A (p.Ala166Glu)
c.*78C>A (n.*78C>A)
c.419C>A (p.Ala140Glu)
c.424+941C>A
c.275C>A (p.Ala92Glu)
c.*352C>A (n.*352C>A)
 gnomAD v4
Xg.48905452C>ACA412895922SLC35A2c.457G>T (p.Ala153Ser)
c.355-560G>T (n.355-560G>T)
c.427-560G>T (n.427-560G>T)
c.212-193G>T
c.241G>T (p.Ala81Ser)
c.541G>T (p.Ala181Ser)
c.496G>T (p.Ala166Ser)
c.*77G>T (n.*77G>T)
c.418G>T (p.Ala140Ser)
c.424+940G>T
c.274G>T (p.Ala92Ser)
c.*351G>T (n.*351G>T)
Xg.48905452C>GCA412895924SLC35A2c.457G>C (p.Ala153Pro)
c.355-560G>C (n.355-560G>C)
c.427-560G>C (n.427-560G>C)
c.212-193G>C
c.241G>C (p.Ala81Pro)
c.541G>C (p.Ala181Pro)
c.496G>C (p.Ala166Pro)
c.*77G>C (n.*77G>C)
c.418G>C (p.Ala140Pro)
c.424+940G>C
c.274G>C (p.Ala92Pro)
c.*351G>C (n.*351G>C)
Xg.48905452C>TCA412895923SLC35A2c.457G>A (p.Ala153Thr)
c.355-560G>A (n.355-560G>A)
c.427-560G>A (n.427-560G>A)
c.212-193G>A
c.241G>A (p.Ala81Thr)
c.541G>A (p.Ala181Thr)
c.496G>A (p.Ala166Thr)
c.*77G>A (n.*77G>A)
c.418G>A (p.Ala140Thr)
c.424+940G>A
c.274G>A (p.Ala92Thr)
c.*351G>A (n.*351G>A)
Xg.48905453T>ACA516360094SLC35A2c.456A>T (p.Thr152=)
c.355-561A>T (n.355-561A>T)
c.427-561A>T (n.427-561A>T)
c.212-194A>T
c.240A>T (p.Thr80=)
c.540A>T (p.Thr180=)
c.495A>T (p.Thr165=)
c.*76A>T (n.*76A>T)
c.417A>T (p.Thr139=)
c.424+939A>T
c.273A>T (p.Thr91=)
c.*350A>T (n.*350A>T)
Xg.48905453T>CCA516360095SLC35A2c.456A>G (p.Thr152=)
c.355-561A>G (n.355-561A>G)
c.427-561A>G (n.427-561A>G)
c.212-194A>G
c.240A>G (p.Thr80=)
c.540A>G (p.Thr180=)
c.495A>G (p.Thr165=)
c.*76A>G (n.*76A>G)
c.417A>G (p.Thr139=)
c.424+939A>G
c.273A>G (p.Thr91=)
c.*350A>G (n.*350A>G)
Xg.48905453T>GCA10406127SLC35A2c.456A>C (p.Thr152=)
c.355-561A>C (n.355-561A>C)
c.427-561A>C (n.427-561A>C)
c.212-194A>C
c.240A>C (p.Thr80=)
c.540A>C (p.Thr180=)
c.495A>C (p.Thr165=)
c.*76A>C (n.*76A>C)
c.417A>C (p.Thr139=)
c.424+939A>C
c.273A>C (p.Thr91=)
c.*350A>C (n.*350A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905453T=CA2428428976SLC35A2c.456A= (p.Thr152=)
c.355-561A= (n.355-561A=)
c.427-561A= (n.427-561A=)
c.212-194A=
c.240A= (p.Thr80=)
c.540A= (p.Thr180=)
c.495A= (p.Thr165=)
c.*76A= (n.*76A=)
c.417A= (p.Thr139=)
c.424+939A=
c.273A= (p.Thr91=)
c.*350A= (n.*350A=)
Xg.48905454G>ACA412895925SLC35A2c.455C>T (p.Thr152Ile)
c.355-562C>T (n.355-562C>T)
c.427-562C>T (n.427-562C>T)
c.212-195C>T
c.239C>T (p.Thr80Ile)
c.539C>T (p.Thr180Ile)
c.494C>T (p.Thr165Ile)
c.*75C>T (n.*75C>T)
c.416C>T (p.Thr139Ile)
c.424+938C>T
c.272C>T (p.Thr91Ile)
c.*349C>T (n.*349C>T)
Xg.48905454G>CCA412895926SLC35A2c.455C>G (p.Thr152Arg)
c.355-562C>G (n.355-562C>G)
c.427-562C>G (n.427-562C>G)
c.212-195C>G
c.239C>G (p.Thr80Arg)
c.539C>G (p.Thr180Arg)
c.494C>G (p.Thr165Arg)
c.*75C>G (n.*75C>G)
c.416C>G (p.Thr139Arg)
c.424+938C>G
c.272C>G (p.Thr91Arg)
c.*349C>G (n.*349C>G)
Xg.48905454G>TCA412895927SLC35A2c.455C>A (p.Thr152Lys)
c.355-562C>A (n.355-562C>A)
c.427-562C>A (n.427-562C>A)
c.212-195C>A
c.239C>A (p.Thr80Lys)
c.539C>A (p.Thr180Lys)
c.494C>A (p.Thr165Lys)
c.*75C>A (n.*75C>A)
c.416C>A (p.Thr139Lys)
c.424+938C>A
c.272C>A (p.Thr91Lys)
c.*349C>A (n.*349C>A)
Xg.48905455T>ACA412895928SLC35A2c.454A>T (p.Thr152Ser)
c.355-563A>T (n.355-563A>T)
c.427-563A>T (n.427-563A>T)
c.212-196A>T
c.238A>T (p.Thr80Ser)
c.538A>T (p.Thr180Ser)
c.493A>T (p.Thr165Ser)
c.*74A>T (n.*74A>T)
c.415A>T (p.Thr139Ser)
c.424+937A>T
c.271A>T (p.Thr91Ser)
c.*348A>T (n.*348A>T)
Xg.48905455T>CCA412895929SLC35A2c.454A>G (p.Thr152Ala)
c.355-563A>G (n.355-563A>G)
c.427-563A>G (n.427-563A>G)
c.212-196A>G
c.238A>G (p.Thr80Ala)
c.538A>G (p.Thr180Ala)
c.493A>G (p.Thr165Ala)
c.*74A>G (n.*74A>G)
c.415A>G (p.Thr139Ala)
c.424+937A>G
c.271A>G (p.Thr91Ala)
c.*348A>G (n.*348A>G)
 gnomAD v4
Xg.48905455T>GCA412895930SLC35A2c.454A>C (p.Thr152Pro)
c.355-563A>C (n.355-563A>C)
c.427-563A>C (n.427-563A>C)
c.212-196A>C
c.238A>C (p.Thr80Pro)
c.538A>C (p.Thr180Pro)
c.493A>C (p.Thr165Pro)
c.*74A>C (n.*74A>C)
c.415A>C (p.Thr139Pro)
c.424+937A>C
c.271A>C (p.Thr91Pro)
c.*348A>C (n.*348A>C)
Xg.48905456G>ACA516360102SLC35A2c.453C>T (p.Thr151=)
c.355-564C>T (n.355-564C>T)
c.427-564C>T (n.427-564C>T)
c.212-197C>T
c.237C>T (p.Thr79=)
c.537C>T (p.Thr179=)
c.492C>T (p.Thr164=)
c.*73C>T (n.*73C>T)
c.414C>T (p.Thr138=)
c.424+936C>T
c.270C>T (p.Thr90=)
c.*347C>T (n.*347C>T)
Xg.48905456G>CCA516360103SLC35A2c.453C>G (p.Thr151=)
c.355-564C>G (n.355-564C>G)
c.427-564C>G (n.427-564C>G)
c.212-197C>G
c.237C>G (p.Thr79=)
c.537C>G (p.Thr179=)
c.492C>G (p.Thr164=)
c.*73C>G (n.*73C>G)
c.414C>G (p.Thr138=)
c.424+936C>G
c.270C>G (p.Thr90=)
c.*347C>G (n.*347C>G)
Xg.48905456G>TCA516360104SLC35A2c.453C>A (p.Thr151=)
c.355-564C>A (n.355-564C>A)
c.427-564C>A (n.427-564C>A)
c.212-197C>A
c.237C>A (p.Thr79=)
c.537C>A (p.Thr179=)
c.492C>A (p.Thr164=)
c.*73C>A (n.*73C>A)
c.414C>A (p.Thr138=)
c.424+936C>A
c.270C>A (p.Thr90=)
c.*347C>A (n.*347C>A)
 gnomAD v4
Xg.48905457G>ACA412895931SLC35A2c.452C>T (p.Thr151Ile)
c.355-565C>T (n.355-565C>T)
c.427-565C>T (n.427-565C>T)
c.212-198C>T
c.236C>T (p.Thr79Ile)
c.536C>T (p.Thr179Ile)
c.491C>T (p.Thr164Ile)
c.*72C>T (n.*72C>T)
c.413C>T (p.Thr138Ile)
c.424+935C>T
c.269C>T (p.Thr90Ile)
c.*346C>T (n.*346C>T)
Xg.48905457G>CCA412895932SLC35A2c.452C>G (p.Thr151Ser)
c.355-565C>G (n.355-565C>G)
c.427-565C>G (n.427-565C>G)
c.212-198C>G
c.236C>G (p.Thr79Ser)
c.536C>G (p.Thr179Ser)
c.491C>G (p.Thr164Ser)
c.*72C>G (n.*72C>G)
c.413C>G (p.Thr138Ser)
c.424+935C>G
c.269C>G (p.Thr90Ser)
c.*346C>G (n.*346C>G)
Xg.48905457G>TCA412895933SLC35A2c.452C>A (p.Thr151Asn)
c.355-565C>A (n.355-565C>A)
c.427-565C>A (n.427-565C>A)
c.212-198C>A
c.236C>A (p.Thr79Asn)
c.536C>A (p.Thr179Asn)
c.491C>A (p.Thr164Asn)
c.*72C>A (n.*72C>A)
c.413C>A (p.Thr138Asn)
c.424+935C>A
c.269C>A (p.Thr90Asn)
c.*346C>A (n.*346C>A)
Xg.48905458T>ACA412895936SLC35A2c.451A>T (p.Thr151Ser)
c.355-566A>T (n.355-566A>T)
c.427-566A>T (n.427-566A>T)
c.212-199A>T
c.235A>T (p.Thr79Ser)
c.535A>T (p.Thr179Ser)
c.490A>T (p.Thr164Ser)
c.*71A>T (n.*71A>T)
c.412A>T (p.Thr138Ser)
c.424+934A>T
c.268A>T (p.Thr90Ser)
c.*345A>T (n.*345A>T)
Xg.48905458T>CCA412895935SLC35A2c.451A>G (p.Thr151Ala)
c.355-566A>G (n.355-566A>G)
c.427-566A>G (n.427-566A>G)
c.212-199A>G
c.235A>G (p.Thr79Ala)
c.535A>G (p.Thr179Ala)
c.490A>G (p.Thr164Ala)
c.*71A>G (n.*71A>G)
c.412A>G (p.Thr138Ala)
c.424+934A>G
c.268A>G (p.Thr90Ala)
c.*345A>G (n.*345A>G)
Xg.48905458T>GCA412895934SLC35A2c.451A>C (p.Thr151Pro)
c.355-566A>C (n.355-566A>C)
c.427-566A>C (n.427-566A>C)
c.212-199A>C
c.235A>C (p.Thr79Pro)
c.535A>C (p.Thr179Pro)
c.490A>C (p.Thr164Pro)
c.*71A>C (n.*71A>C)
c.412A>C (p.Thr138Pro)
c.424+934A>C
c.268A>C (p.Thr90Pro)
c.*345A>C (n.*345A>C)
Xg.48905459C>ACA516360110SLC35A2c.450G>T (p.Leu150=)
c.355-567G>T (n.355-567G>T)
c.427-567G>T (n.427-567G>T)
c.212-200G>T
c.234G>T (p.Leu78=)
c.534G>T (p.Leu178=)
c.489G>T (p.Leu163=)
c.*70G>T (n.*70G>T)
c.411G>T (p.Leu137=)
c.424+933G>T
c.267G>T (p.Leu89=)
c.*344G>T (n.*344G>T)
Xg.48905459C=CA2428428977SLC35A2c.450G= (p.Leu150=)
c.355-567G= (n.355-567G=)
c.427-567G= (n.427-567G=)
c.212-200G=
c.234G= (p.Leu78=)
c.534G= (p.Leu178=)
c.489G= (p.Leu163=)
c.*70G= (n.*70G=)
c.411G= (p.Leu137=)
c.424+933G=
c.267G= (p.Leu89=)
c.*344G= (n.*344G=)
Xg.48905459C>GCA516360109SLC35A2c.450G>C (p.Leu150=)
c.355-567G>C (n.355-567G>C)
c.427-567G>C (n.427-567G>C)
c.212-200G>C
c.234G>C (p.Leu78=)
c.534G>C (p.Leu178=)
c.489G>C (p.Leu163=)
c.*70G>C (n.*70G>C)
c.411G>C (p.Leu137=)
c.424+933G>C
c.267G>C (p.Leu89=)
c.*344G>C (n.*344G>C)
 dbSNP gnomAD v4
Xg.48905459C>TCA516360108SLC35A2c.450G>A (p.Leu150=)
c.355-567G>A (n.355-567G>A)
c.427-567G>A (n.427-567G>A)
c.212-200G>A
c.234G>A (p.Leu78=)
c.534G>A (p.Leu178=)
c.489G>A (p.Leu163=)
c.*70G>A (n.*70G>A)
c.411G>A (p.Leu137=)
c.424+933G>A
c.267G>A (p.Leu89=)
c.*344G>A (n.*344G>A)
 gnomAD v4
Xg.48905460A>CCA412895937SLC35A2c.449T>G (p.Leu150Arg)
c.355-568T>G (n.355-568T>G)
c.427-568T>G (n.427-568T>G)
c.212-201T>G
c.233T>G (p.Leu78Arg)
c.533T>G (p.Leu178Arg)
c.488T>G (p.Leu163Arg)
c.*69T>G (n.*69T>G)
c.410T>G (p.Leu137Arg)
c.424+932T>G
c.266T>G (p.Leu89Arg)
c.*343T>G (n.*343T>G)
Xg.48905460A>GCA412895938SLC35A2c.449T>C (p.Leu150Pro)
c.355-568T>C (n.355-568T>C)
c.427-568T>C (n.427-568T>C)
c.212-201T>C
c.233T>C (p.Leu78Pro)
c.533T>C (p.Leu178Pro)
c.488T>C (p.Leu163Pro)
c.*69T>C (n.*69T>C)
c.410T>C (p.Leu137Pro)
c.424+932T>C
c.266T>C (p.Leu89Pro)
c.*343T>C (n.*343T>C)
 gnomAD v4
Xg.48905460A>TCA412895939SLC35A2c.449T>A (p.Leu150Gln)
c.355-568T>A (n.355-568T>A)
c.427-568T>A (n.427-568T>A)
c.212-201T>A
c.233T>A (p.Leu78Gln)
c.533T>A (p.Leu178Gln)
c.488T>A (p.Leu163Gln)
c.*69T>A (n.*69T>A)
c.410T>A (p.Leu137Gln)
c.424+932T>A
c.266T>A (p.Leu89Gln)
c.*343T>A (n.*343T>A)
Xg.48905461G>ACA10406128SLC35A2c.448C>T (p.Leu150=)
c.355-569C>T (n.355-569C>T)
c.427-569C>T (n.427-569C>T)
c.212-202C>T
c.232C>T (p.Leu78=)
c.532C>T (p.Leu178=)
c.487C>T (p.Leu163=)
c.*68C>T (n.*68C>T)
c.409C>T (p.Leu137=)
c.424+931C>T
c.265C>T (p.Leu89=)
c.*342C>T (n.*342C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905461G>CCA412895940SLC35A2c.448C>G (p.Leu150Val)
c.355-569C>G (n.355-569C>G)
c.427-569C>G (n.427-569C>G)
c.212-202C>G
c.232C>G (p.Leu78Val)
c.532C>G (p.Leu178Val)
c.487C>G (p.Leu163Val)
c.*68C>G (n.*68C>G)
c.409C>G (p.Leu137Val)
c.424+931C>G
c.265C>G (p.Leu89Val)
c.*342C>G (n.*342C>G)
Xg.48905461G=CA2428428978SLC35A2c.448C= (p.Leu150=)
c.355-569C= (n.355-569C=)
c.427-569C= (n.427-569C=)
c.212-202C=
c.232C= (p.Leu78=)
c.532C= (p.Leu178=)
c.487C= (p.Leu163=)
c.*68C= (n.*68C=)
c.409C= (p.Leu137=)
c.424+931C=
c.265C= (p.Leu89=)
c.*342C= (n.*342C=)
Xg.48905461G>TCA412895941SLC35A2c.448C>A (p.Leu150Met)
c.355-569C>A (n.355-569C>A)
c.427-569C>A (n.427-569C>A)
c.212-202C>A
c.232C>A (p.Leu78Met)
c.532C>A (p.Leu178Met)
c.487C>A (p.Leu163Met)
c.*68C>A (n.*68C>A)
c.409C>A (p.Leu137Met)
c.424+931C>A
c.265C>A (p.Leu89Met)
c.*342C>A (n.*342C>A)
Xg.48905462G>ACA516360115SLC35A2c.447C>T (p.Ile149=)
c.355-570C>T (n.355-570C>T)
c.427-570C>T (n.427-570C>T)
c.212-203C>T
c.231C>T (p.Ile77=)
c.531C>T (p.Ile177=)
c.486C>T (p.Ile162=)
c.*67C>T (n.*67C>T)
c.408C>T (p.Ile136=)
c.424+930C>T
c.264C>T (p.Ile88=)
c.*341C>T (n.*341C>T)
Xg.48905462G>CCA412895942SLC35A2c.447C>G (p.Ile149Met)
c.355-570C>G (n.355-570C>G)
c.427-570C>G (n.427-570C>G)
c.212-203C>G
c.231C>G (p.Ile77Met)
c.531C>G (p.Ile177Met)
c.486C>G (p.Ile162Met)
c.*67C>G (n.*67C>G)
c.408C>G (p.Ile136Met)
c.424+930C>G
c.264C>G (p.Ile88Met)
c.*341C>G (n.*341C>G)
 gnomAD v4
Xg.48905462G=CA2428428979SLC35A2c.447C= (p.Ile149=)
c.355-570C= (n.355-570C=)
c.427-570C= (n.427-570C=)
c.212-203C=
c.231C= (p.Ile77=)
c.531C= (p.Ile177=)
c.486C= (p.Ile162=)
c.*67C= (n.*67C=)
c.408C= (p.Ile136=)
c.424+930C=
c.264C= (p.Ile88=)
c.*341C= (n.*341C=)
Xg.48905462G>TCA10406129SLC35A2c.447C>A (p.Ile149=)
c.355-570C>A (n.355-570C>A)
c.427-570C>A (n.427-570C>A)
c.212-203C>A
c.231C>A (p.Ile77=)
c.531C>A (p.Ile177=)
c.486C>A (p.Ile162=)
c.*67C>A (n.*67C>A)
c.408C>A (p.Ile136=)
c.424+930C>A
c.264C>A (p.Ile88=)
c.*341C>A (n.*341C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905463A>CCA412895943SLC35A2c.446T>G (p.Ile149Ser)
c.355-571T>G (n.355-571T>G)
c.427-571T>G (n.427-571T>G)
c.212-204T>G
c.230T>G (p.Ile77Ser)
c.530T>G (p.Ile177Ser)
c.485T>G (p.Ile162Ser)
c.*66T>G (n.*66T>G)
c.407T>G (p.Ile136Ser)
c.424+929T>G
c.263T>G (p.Ile88Ser)
c.*340T>G (n.*340T>G)
Xg.48905463A>GCA412895944SLC35A2c.446T>C (p.Ile149Thr)
c.355-571T>C (n.355-571T>C)
c.427-571T>C (n.427-571T>C)
c.212-204T>C
c.230T>C (p.Ile77Thr)
c.530T>C (p.Ile177Thr)
c.485T>C (p.Ile162Thr)
c.*66T>C (n.*66T>C)
c.407T>C (p.Ile136Thr)
c.424+929T>C
c.263T>C (p.Ile88Thr)
c.*340T>C (n.*340T>C)
Xg.48905463A>TCA412895945SLC35A2c.446T>A (p.Ile149Asn)
c.355-571T>A (n.355-571T>A)
c.427-571T>A (n.427-571T>A)
c.212-204T>A
c.230T>A (p.Ile77Asn)
c.530T>A (p.Ile177Asn)
c.485T>A (p.Ile162Asn)
c.*66T>A (n.*66T>A)
c.407T>A (p.Ile136Asn)
c.424+929T>A
c.263T>A (p.Ile88Asn)
c.*340T>A (n.*340T>A)
Xg.48905464T>ACA412895947SLC35A2c.445A>T (p.Ile149Phe)
c.355-572A>T (n.355-572A>T)
c.427-572A>T (n.427-572A>T)
c.212-205A>T
c.229A>T (p.Ile77Phe)
c.529A>T (p.Ile177Phe)
c.484A>T (p.Ile162Phe)
c.*65A>T (n.*65A>T)
c.406A>T (p.Ile136Phe)
c.424+928A>T
c.262A>T (p.Ile88Phe)
c.*339A>T (n.*339A>T)
Xg.48905464T>CCA412895948SLC35A2c.445A>G (p.Ile149Val)
c.355-572A>G (n.355-572A>G)
c.427-572A>G (n.427-572A>G)
c.212-205A>G
c.229A>G (p.Ile77Val)
c.529A>G (p.Ile177Val)
c.484A>G (p.Ile162Val)
c.*65A>G (n.*65A>G)
c.406A>G (p.Ile136Val)
c.424+928A>G
c.262A>G (p.Ile88Val)
c.*339A>G (n.*339A>G)
Xg.48905464T>GCA412895946SLC35A2c.445A>C (p.Ile149Leu)
c.355-572A>C (n.355-572A>C)
c.427-572A>C (n.427-572A>C)
c.212-205A>C
c.229A>C (p.Ile77Leu)
c.529A>C (p.Ile177Leu)
c.484A>C (p.Ile162Leu)
c.*65A>C (n.*65A>C)
c.406A>C (p.Ile136Leu)
c.424+928A>C
c.262A>C (p.Ile88Leu)
c.*339A>C (n.*339A>C)
Xg.48905465C>ACA412895949SLC35A2c.444G>T (p.Lys148Asn)
c.355-573G>T (n.355-573G>T)
c.427-573G>T (n.427-573G>T)
c.212-206G>T
c.228G>T (p.Lys76Asn)
c.528G>T (p.Lys176Asn)
c.483G>T (p.Lys161Asn)
c.*64G>T (n.*64G>T)
c.405G>T (p.Lys135Asn)
c.424+927G>T
c.261G>T (p.Lys87Asn)
c.*338G>T (n.*338G>T)
 gnomAD v4
Xg.48905465C=CA2428428980SLC35A2c.444G= (p.Lys148=)
c.355-573G= (n.355-573G=)
c.427-573G= (n.427-573G=)
c.212-206G=
c.228G= (p.Lys76=)
c.528G= (p.Lys176=)
c.483G= (p.Lys161=)
c.*64G= (n.*64G=)
c.405G= (p.Lys135=)
c.424+927G=
c.261G= (p.Lys87=)
c.*338G= (n.*338G=)
Xg.48905465C>GCA412895950SLC35A2c.444G>C (p.Lys148Asn)
c.355-573G>C (n.355-573G>C)
c.427-573G>C (n.427-573G>C)
c.212-206G>C
c.228G>C (p.Lys76Asn)
c.528G>C (p.Lys176Asn)
c.483G>C (p.Lys161Asn)
c.*64G>C (n.*64G>C)
c.405G>C (p.Lys135Asn)
c.424+927G>C
c.261G>C (p.Lys87Asn)
c.*338G>C (n.*338G>C)
Xg.48905465C>TCA516360123SLC35A2c.444G>A (p.Lys148=)
c.355-573G>A (n.355-573G>A)
c.427-573G>A (n.427-573G>A)
c.212-206G>A
c.228G>A (p.Lys76=)
c.528G>A (p.Lys176=)
c.483G>A (p.Lys161=)
c.*64G>A (n.*64G>A)
c.405G>A (p.Lys135=)
c.424+927G>A
c.261G>A (p.Lys87=)
c.*338G>A (n.*338G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905466T>ACA412895951SLC35A2c.443A>T (p.Lys148Met)
c.355-574A>T (n.355-574A>T)
c.427-574A>T (n.427-574A>T)
c.212-207A>T
c.227A>T (p.Lys76Met)
c.527A>T (p.Lys176Met)
c.482A>T (p.Lys161Met)
c.*63A>T (n.*63A>T)
c.404A>T (p.Lys135Met)
c.424+926A>T
c.260A>T (p.Lys87Met)
c.*337A>T (n.*337A>T)
Xg.48905466T>CCA412895952SLC35A2c.443A>G (p.Lys148Arg)
c.355-574A>G (n.355-574A>G)
c.427-574A>G (n.427-574A>G)
c.212-207A>G
c.227A>G (p.Lys76Arg)
c.527A>G (p.Lys176Arg)
c.482A>G (p.Lys161Arg)
c.*63A>G (n.*63A>G)
c.404A>G (p.Lys135Arg)
c.424+926A>G
c.260A>G (p.Lys87Arg)
c.*337A>G (n.*337A>G)
Xg.48905466T>GCA412895953SLC35A2c.443A>C (p.Lys148Thr)
c.355-574A>C (n.355-574A>C)
c.427-574A>C (n.427-574A>C)
c.212-207A>C
c.227A>C (p.Lys76Thr)
c.527A>C (p.Lys176Thr)
c.482A>C (p.Lys161Thr)
c.*63A>C (n.*63A>C)
c.404A>C (p.Lys135Thr)
c.424+926A>C
c.260A>C (p.Lys87Thr)
c.*337A>C (n.*337A>C)
Xg.48905467T>ACA412895954SLC35A2c.442A>T (p.Lys148Ter)
c.355-575A>T (n.355-575A>T)
c.427-575A>T (n.427-575A>T)
c.212-208A>T
c.226A>T (p.Lys76Ter)
c.526A>T (p.Lys176Ter)
c.481A>T (p.Lys161Ter)
c.*62A>T (n.*62A>T)
c.403A>T (p.Lys135Ter)
c.424+925A>T
c.259A>T (p.Lys87Ter)
c.*336A>T (n.*336A>T)
Xg.48905467T>CCA412895955SLC35A2c.442A>G (p.Lys148Glu)
c.355-575A>G (n.355-575A>G)
c.427-575A>G (n.427-575A>G)
c.212-208A>G
c.226A>G (p.Lys76Glu)
c.526A>G (p.Lys176Glu)
c.481A>G (p.Lys161Glu)
c.*62A>G (n.*62A>G)
c.403A>G (p.Lys135Glu)
c.424+925A>G
c.259A>G (p.Lys87Glu)
c.*336A>G (n.*336A>G)
Xg.48905467T>GCA412895956SLC35A2c.442A>C (p.Lys148Gln)
c.355-575A>C (n.355-575A>C)
c.427-575A>C (n.427-575A>C)
c.212-208A>C
c.226A>C (p.Lys76Gln)
c.526A>C (p.Lys176Gln)
c.481A>C (p.Lys161Gln)
c.*62A>C (n.*62A>C)
c.403A>C (p.Lys135Gln)
c.424+925A>C
c.259A>C (p.Lys87Gln)
c.*336A>C (n.*336A>C)
Xg.48905468C>ACA516360128SLC35A2c.441G>T (p.Leu147=)
c.355-576G>T (n.355-576G>T)
c.427-576G>T (n.427-576G>T)
c.212-209G>T
c.225G>T (p.Leu75=)
c.525G>T (p.Leu175=)
c.480G>T (p.Leu160=)
c.*61G>T (n.*61G>T)
c.402G>T (p.Leu134=)
c.424+924G>T
c.258G>T (p.Leu86=)
c.*335G>T (n.*335G>T)
Xg.48905468C>GCA516360129SLC35A2c.441G>C (p.Leu147=)
c.355-576G>C (n.355-576G>C)
c.427-576G>C (n.427-576G>C)
c.212-209G>C
c.225G>C (p.Leu75=)
c.525G>C (p.Leu175=)
c.480G>C (p.Leu160=)
c.*61G>C (n.*61G>C)
c.402G>C (p.Leu134=)
c.424+924G>C
c.258G>C (p.Leu86=)
c.*335G>C (n.*335G>C)
Xg.48905468C>TCA516360131SLC35A2c.441G>A (p.Leu147=)
c.355-576G>A (n.355-576G>A)
c.427-576G>A (n.427-576G>A)
c.212-209G>A
c.225G>A (p.Leu75=)
c.525G>A (p.Leu175=)
c.480G>A (p.Leu160=)
c.*61G>A (n.*61G>A)
c.402G>A (p.Leu134=)
c.424+924G>A
c.258G>A (p.Leu86=)
c.*335G>A (n.*335G>A)
 gnomAD v4
Xg.48905469A>CCA412895957SLC35A2c.440T>G (p.Leu147Arg)
c.355-577T>G (n.355-577T>G)
c.427-577T>G (n.427-577T>G)
c.212-210T>G
c.224T>G (p.Leu75Arg)
c.524T>G (p.Leu175Arg)
c.479T>G (p.Leu160Arg)
c.*60T>G (n.*60T>G)
c.401T>G (p.Leu134Arg)
c.424+923T>G
c.257T>G (p.Leu86Arg)
c.*334T>G (n.*334T>G)
Xg.48905469A>GCA412895958SLC35A2c.440T>C (p.Leu147Pro)
c.355-577T>C (n.355-577T>C)
c.427-577T>C (n.427-577T>C)
c.212-210T>C
c.224T>C (p.Leu75Pro)
c.524T>C (p.Leu175Pro)
c.479T>C (p.Leu160Pro)
c.*60T>C (n.*60T>C)
c.401T>C (p.Leu134Pro)
c.424+923T>C
c.257T>C (p.Leu86Pro)
c.*334T>C (n.*334T>C)
Xg.48905469A>TCA412895959SLC35A2c.440T>A (p.Leu147Gln)
c.355-577T>A (n.355-577T>A)
c.427-577T>A (n.427-577T>A)
c.212-210T>A
c.224T>A (p.Leu75Gln)
c.524T>A (p.Leu175Gln)
c.479T>A (p.Leu160Gln)
c.*60T>A (n.*60T>A)
c.401T>A (p.Leu134Gln)
c.424+923T>A
c.257T>A (p.Leu86Gln)
c.*334T>A (n.*334T>A)
Xg.48905470G>ACA10406130SLC35A2c.439C>T (p.Leu147=)
c.355-578C>T (n.355-578C>T)
c.427-578C>T (n.427-578C>T)
c.212-211C>T
c.223C>T (p.Leu75=)
c.523C>T (p.Leu175=)
c.478C>T (p.Leu160=)
c.*59C>T (n.*59C>T)
c.400C>T (p.Leu134=)
c.424+922C>T
c.256C>T (p.Leu86=)
c.*333C>T (n.*333C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905470G>CCA412895960SLC35A2c.439C>G (p.Leu147Val)
c.355-578C>G (n.355-578C>G)
c.427-578C>G (n.427-578C>G)
c.212-211C>G
c.223C>G (p.Leu75Val)
c.523C>G (p.Leu175Val)
c.478C>G (p.Leu160Val)
c.*59C>G (n.*59C>G)
c.400C>G (p.Leu134Val)
c.424+922C>G
c.256C>G (p.Leu86Val)
c.*333C>G (n.*333C>G)
Xg.48905470G=CA2428428981SLC35A2c.439C= (p.Leu147=)
c.355-578C= (n.355-578C=)
c.427-578C= (n.427-578C=)
c.212-211C=
c.223C= (p.Leu75=)
c.523C= (p.Leu175=)
c.478C= (p.Leu160=)
c.*59C= (n.*59C=)
c.400C= (p.Leu134=)
c.424+922C=
c.256C= (p.Leu86=)
c.*333C= (n.*333C=)
Xg.48905470G>TCA412895961SLC35A2c.439C>A (p.Leu147Met)
c.355-578C>A (n.355-578C>A)
c.427-578C>A (n.427-578C>A)
c.212-211C>A
c.223C>A (p.Leu75Met)
c.523C>A (p.Leu175Met)
c.478C>A (p.Leu160Met)
c.*59C>A (n.*59C>A)
c.400C>A (p.Leu134Met)
c.424+922C>A
c.256C>A (p.Leu86Met)
c.*333C>A (n.*333C>A)
Xg.48905471C>ACA412895962SLC35A2c.438G>T (p.Gln146His)
c.355-579G>T (n.355-579G>T)
c.427-579G>T (n.427-579G>T)
c.212-212G>T
c.222G>T (p.Gln74His)
c.522G>T (p.Gln174His)
c.477G>T (p.Gln159His)
c.*58G>T (n.*58G>T)
c.399G>T (p.Gln133His)
c.424+921G>T
c.255G>T (p.Gln85His)
c.*332G>T (n.*332G>T)
Xg.48905471C>GCA412895963SLC35A2c.438G>C (p.Gln146His)
c.355-579G>C (n.355-579G>C)
c.427-579G>C (n.427-579G>C)
c.212-212G>C
c.222G>C (p.Gln74His)
c.522G>C (p.Gln174His)
c.477G>C (p.Gln159His)
c.*58G>C (n.*58G>C)
c.399G>C (p.Gln133His)
c.424+921G>C
c.255G>C (p.Gln85His)
c.*332G>C (n.*332G>C)
Xg.48905471C>TCA516360135SLC35A2c.438G>A (p.Gln146=)
c.355-579G>A (n.355-579G>A)
c.427-579G>A (n.427-579G>A)
c.212-212G>A
c.222G>A (p.Gln74=)
c.522G>A (p.Gln174=)
c.477G>A (p.Gln159=)
c.*58G>A (n.*58G>A)
c.399G>A (p.Gln133=)
c.424+921G>A
c.255G>A (p.Gln85=)
c.*332G>A (n.*332G>A)
Xg.48905472T>ACA412895964SLC35A2c.437A>T (p.Gln146Leu)
c.355-580A>T (n.355-580A>T)
c.427-580A>T (n.427-580A>T)
c.212-213A>T
c.221A>T (p.Gln74Leu)
c.521A>T (p.Gln174Leu)
c.476A>T (p.Gln159Leu)
c.*57A>T (n.*57A>T)
c.398A>T (p.Gln133Leu)
c.424+920A>T
c.254A>T (p.Gln85Leu)
c.*331A>T (n.*331A>T)
Xg.48905472T>CCA412895965SLC35A2c.437A>G (p.Gln146Arg)
c.355-580A>G (n.355-580A>G)
c.427-580A>G (n.427-580A>G)
c.212-213A>G
c.221A>G (p.Gln74Arg)
c.521A>G (p.Gln174Arg)
c.476A>G (p.Gln159Arg)
c.*57A>G (n.*57A>G)
c.398A>G (p.Gln133Arg)
c.424+920A>G
c.254A>G (p.Gln85Arg)
c.*331A>G (n.*331A>G)
Xg.48905472T>GCA412895966SLC35A2c.437A>C (p.Gln146Pro)
c.355-580A>C (n.355-580A>C)
c.427-580A>C (n.427-580A>C)
c.212-213A>C
c.221A>C (p.Gln74Pro)
c.521A>C (p.Gln174Pro)
c.476A>C (p.Gln159Pro)
c.*57A>C (n.*57A>C)
c.398A>C (p.Gln133Pro)
c.424+920A>C
c.254A>C (p.Gln85Pro)
c.*331A>C (n.*331A>C)
Xg.48905473G>ACA412895968SLC35A2c.436C>T (p.Gln146Ter)
c.355-581C>T (n.355-581C>T)
c.427-581C>T (n.427-581C>T)
c.212-214C>T
c.220C>T (p.Gln74Ter)
c.520C>T (p.Gln174Ter)
c.475C>T (p.Gln159Ter)
c.*56C>T (n.*56C>T)
c.397C>T (p.Gln133Ter)
c.424+919C>T
c.253C>T (p.Gln85Ter)
c.*330C>T (n.*330C>T)
Xg.48905473G>CCA412895969SLC35A2c.436C>G (p.Gln146Glu)
c.355-581C>G (n.355-581C>G)
c.427-581C>G (n.427-581C>G)
c.212-214C>G
c.220C>G (p.Gln74Glu)
c.520C>G (p.Gln174Glu)
c.475C>G (p.Gln159Glu)
c.*56C>G (n.*56C>G)
c.397C>G (p.Gln133Glu)
c.424+919C>G
c.253C>G (p.Gln85Glu)
c.*330C>G (n.*330C>G)
Xg.48905473G>TCA412895971SLC35A2c.436C>A (p.Gln146Lys)
c.355-581C>A (n.355-581C>A)
c.427-581C>A (n.427-581C>A)
c.212-214C>A
c.220C>A (p.Gln74Lys)
c.520C>A (p.Gln174Lys)
c.475C>A (p.Gln159Lys)
c.*56C>A (n.*56C>A)
c.397C>A (p.Gln133Lys)
c.424+919C>A
c.253C>A (p.Gln85Lys)
c.*330C>A (n.*330C>A)
 gnomAD v4
Xg.48905474G>ACA516360142SLC35A2c.435C>T (p.Tyr145=)
c.355-582C>T (n.355-582C>T)
c.427-582C>T (n.427-582C>T)
c.212-215C>T
c.219C>T (p.Tyr73=)
c.519C>T (p.Tyr173=)
c.474C>T (p.Tyr158=)
c.*55C>T (n.*55C>T)
c.396C>T (p.Tyr132=)
c.424+918C>T
c.252C>T (p.Tyr84=)
c.*329C>T (n.*329C>T)
 gnomAD v4
Xg.48905474G>CCA412895973SLC35A2c.435C>G (p.Tyr145Ter)
c.355-582C>G (n.355-582C>G)
c.427-582C>G (n.427-582C>G)
c.212-215C>G
c.219C>G (p.Tyr73Ter)
c.519C>G (p.Tyr173Ter)
c.474C>G (p.Tyr158Ter)
c.*55C>G (n.*55C>G)
c.396C>G (p.Tyr132Ter)
c.424+918C>G
c.252C>G (p.Tyr84Ter)
c.*329C>G (n.*329C>G)
Xg.48905474G>TCA412895974SLC35A2c.435C>A (p.Tyr145Ter)
c.355-582C>A (n.355-582C>A)
c.427-582C>A (n.427-582C>A)
c.212-215C>A
c.219C>A (p.Tyr73Ter)
c.519C>A (p.Tyr173Ter)
c.474C>A (p.Tyr158Ter)
c.*55C>A (n.*55C>A)
c.396C>A (p.Tyr132Ter)
c.424+918C>A
c.252C>A (p.Tyr84Ter)
c.*329C>A (n.*329C>A)
Xg.48905474_48905476delinsGTACA2428428982SLC35A2c.433_435delinsTAC (p.Tyr145=)
c.355-584_355-582delinsTAC (n.355-584_355-582delinsTAC)
c.427-584_427-582delinsTAC (n.427-584_427-582delinsTAC)
c.212-217_212-215delinsTAC
c.217_219delinsTAC (p.Tyr73=)
c.517_519delinsTAC (p.Tyr173=)
c.472_474delinsTAC (p.Tyr158=)
c.*53_*55delinsTAC (n.*53_*55delinsTAC)
c.394_396delinsTAC (p.Tyr132=)
c.424+916_424+918delinsTAC
c.250_252delinsTAC (p.Tyr84=)
c.*327_*329delinsTAC (n.*327_*329delinsTAC)
Xg.48905475T>ACA412895975SLC35A2c.434A>T (p.Tyr145Phe)
c.355-583A>T (n.355-583A>T)
c.427-583A>T (n.427-583A>T)
c.212-216A>T
c.218A>T (p.Tyr73Phe)
c.518A>T (p.Tyr173Phe)
c.473A>T (p.Tyr158Phe)
c.*54A>T (n.*54A>T)
c.395A>T (p.Tyr132Phe)
c.424+917A>T
c.251A>T (p.Tyr84Phe)
c.*328A>T (n.*328A>T)
Xg.48905475T>CCA412895976SLC35A2c.434A>G (p.Tyr145Cys)
c.355-583A>G (n.355-583A>G)
c.427-583A>G (n.427-583A>G)
c.212-216A>G
c.218A>G (p.Tyr73Cys)
c.518A>G (p.Tyr173Cys)
c.473A>G (p.Tyr158Cys)
c.*54A>G (n.*54A>G)
c.395A>G (p.Tyr132Cys)
c.424+917A>G
c.251A>G (p.Tyr84Cys)
c.*328A>G (n.*328A>G)
Xg.48905475T>GCA412895977SLC35A2c.434A>C (p.Tyr145Ser)
c.355-583A>C (n.355-583A>C)
c.427-583A>C (n.427-583A>C)
c.212-216A>C
c.218A>C (p.Tyr73Ser)
c.518A>C (p.Tyr173Ser)
c.473A>C (p.Tyr158Ser)
c.*54A>C (n.*54A>C)
c.395A>C (p.Tyr132Ser)
c.424+917A>C
c.251A>C (p.Tyr84Ser)
c.*328A>C (n.*328A>C)
Xg.48905476_48905477delCA163125SLC35A2c.433_434del (p.Tyr145ProfsTer?)
c.355-584_355-583del (n.355-584_355-583del)
c.427-584_427-583del (n.427-584_427-583del)
c.212-217_212-216del
c.217_218del (p.Tyr73ProfsTer?)
c.517_518del (p.Tyr173ProfsTer?)
c.472_473del (p.Tyr158ProfsTer?)
c.*53_*54del (n.*53_*54del)
c.394_395del (p.Tyr132ProfsTer?)
c.424+916_424+917del
c.250_251del (p.Tyr84ProfsTer?)
c.*327_*328del (n.*327_*328del)
 ClinVar dbSNP
Xg.48905476A>CCA412895980SLC35A2c.433T>G (p.Tyr145Asp)
c.355-584T>G (n.355-584T>G)
c.427-584T>G (n.427-584T>G)
c.212-217T>G
c.217T>G (p.Tyr73Asp)
c.517T>G (p.Tyr173Asp)
c.472T>G (p.Tyr158Asp)
c.*53T>G (n.*53T>G)
c.394T>G (p.Tyr132Asp)
c.424+916T>G
c.250T>G (p.Tyr84Asp)
c.*327T>G (n.*327T>G)
Xg.48905476A>GCA412895979SLC35A2c.433T>C (p.Tyr145His)
c.355-584T>C (n.355-584T>C)
c.427-584T>C (n.427-584T>C)
c.212-217T>C
c.217T>C (p.Tyr73His)
c.517T>C (p.Tyr173His)
c.472T>C (p.Tyr158His)
c.*53T>C (n.*53T>C)
c.394T>C (p.Tyr132His)
c.424+916T>C
c.250T>C (p.Tyr84His)
c.*327T>C (n.*327T>C)
Xg.48905476A>TCA412895978SLC35A2c.433T>A (p.Tyr145Asn)
c.355-584T>A (n.355-584T>A)
c.427-584T>A (n.427-584T>A)
c.212-217T>A
c.217T>A (p.Tyr73Asn)
c.517T>A (p.Tyr173Asn)
c.472T>A (p.Tyr158Asn)
c.*53T>A (n.*53T>A)
c.394T>A (p.Tyr132Asn)
c.424+916T>A
c.250T>A (p.Tyr84Asn)
c.*327T>A (n.*327T>A)
Xg.48905477T>ACA516360146SLC35A2c.432A>T (p.Thr144=)
c.355-585A>T (n.355-585A>T)
c.427-585A>T (n.427-585A>T)
c.212-218A>T
c.216A>T (p.Thr72=)
c.516A>T (p.Thr172=)
c.471A>T (p.Thr157=)
c.*52A>T (n.*52A>T)
c.393A>T (p.Thr131=)
c.424+915A>T
c.249A>T (p.Thr83=)
c.*326A>T (n.*326A>T)
Xg.48905477T>CCA516360147SLC35A2c.432A>G (p.Thr144=)
c.355-585A>G (n.355-585A>G)
c.427-585A>G (n.427-585A>G)
c.212-218A>G
c.216A>G (p.Thr72=)
c.516A>G (p.Thr172=)
c.471A>G (p.Thr157=)
c.*52A>G (n.*52A>G)
c.393A>G (p.Thr131=)
c.424+915A>G
c.249A>G (p.Thr83=)
c.*326A>G (n.*326A>G)
Xg.48905477T>GCA516360148SLC35A2c.432A>C (p.Thr144=)
c.355-585A>C (n.355-585A>C)
c.427-585A>C (n.427-585A>C)
c.212-218A>C
c.216A>C (p.Thr72=)
c.516A>C (p.Thr172=)
c.471A>C (p.Thr157=)
c.*52A>C (n.*52A>C)
c.393A>C (p.Thr131=)
c.424+915A>C
c.249A>C (p.Thr83=)
c.*326A>C (n.*326A>C)
Xg.48905478delCA2579602661SLC35A2c.431del (p.Thr144AsnfsTer4)
c.355-586del (n.355-586del)
c.427-586del (n.427-586del)
c.212-219del
c.215del (p.Thr72AsnfsTer4)
c.515del (p.Thr172AsnfsTer4)
c.470del (p.Thr157AsnfsTer4)
c.*51del (n.*51del)
c.392del (p.Thr131AsnfsTer4)
c.424+914del
c.248del (p.Thr83AsnfsTer4)
c.*325del (n.*325del)
Xg.48905478G>ACA412895981SLC35A2c.431C>T (p.Thr144Ile)
c.355-586C>T (n.355-586C>T)
c.427-586C>T (n.427-586C>T)
c.212-219C>T
c.215C>T (p.Thr72Ile)
c.515C>T (p.Thr172Ile)
c.470C>T (p.Thr157Ile)
c.*51C>T (n.*51C>T)
c.392C>T (p.Thr131Ile)
c.424+914C>T
c.248C>T (p.Thr83Ile)
c.*325C>T (n.*325C>T)
 gnomAD v4
Xg.48905478G>CCA412895983SLC35A2c.431C>G (p.Thr144Arg)
c.355-586C>G (n.355-586C>G)
c.427-586C>G (n.427-586C>G)
c.212-219C>G
c.215C>G (p.Thr72Arg)
c.515C>G (p.Thr172Arg)
c.470C>G (p.Thr157Arg)
c.*51C>G (n.*51C>G)
c.392C>G (p.Thr131Arg)
c.424+914C>G
c.248C>G (p.Thr83Arg)
c.*325C>G (n.*325C>G)
Xg.48905478G>TCA412895982SLC35A2c.431C>A (p.Thr144Lys)
c.355-586C>A (n.355-586C>A)
c.427-586C>A (n.427-586C>A)
c.212-219C>A
c.215C>A (p.Thr72Lys)
c.515C>A (p.Thr172Lys)
c.470C>A (p.Thr157Lys)
c.*51C>A (n.*51C>A)
c.392C>A (p.Thr131Lys)
c.424+914C>A
c.248C>A (p.Thr83Lys)
c.*325C>A (n.*325C>A)
Xg.48905479T>ACA412895984SLC35A2c.430A>T (p.Thr144Ser)
c.355-587A>T (n.355-587A>T)
c.427-587A>T (n.427-587A>T)
c.212-220A>T
c.214A>T (p.Thr72Ser)
c.514A>T (p.Thr172Ser)
c.469A>T (p.Thr157Ser)
c.*50A>T (n.*50A>T)
c.391A>T (p.Thr131Ser)
c.424+913A>T
c.247A>T (p.Thr83Ser)
c.*324A>T (n.*324A>T)
Xg.48905479T>CCA412895986SLC35A2c.430A>G (p.Thr144Ala)
c.355-587A>G (n.355-587A>G)
c.427-587A>G (n.427-587A>G)
c.212-220A>G
c.214A>G (p.Thr72Ala)
c.514A>G (p.Thr172Ala)
c.469A>G (p.Thr157Ala)
c.*50A>G (n.*50A>G)
c.391A>G (p.Thr131Ala)
c.424+913A>G
c.247A>G (p.Thr83Ala)
c.*324A>G (n.*324A>G)
Xg.48905479T>GCA412895985SLC35A2c.430A>C (p.Thr144Pro)
c.355-587A>C (n.355-587A>C)
c.427-587A>C (n.427-587A>C)
c.212-220A>C
c.214A>C (p.Thr72Pro)
c.514A>C (p.Thr172Pro)
c.469A>C (p.Thr157Pro)
c.*50A>C (n.*50A>C)
c.391A>C (p.Thr131Pro)
c.424+913A>C
c.247A>C (p.Thr83Pro)
c.*324A>C (n.*324A>C)
Xg.48905480C>ACA516360151SLC35A2c.429G>T (p.Val143=)
c.355-588G>T (n.355-588G>T)
c.427-588G>T (n.427-588G>T)
c.212-221G>T
c.213G>T (p.Val71=)
c.513G>T (p.Val171=)
c.468G>T (p.Val156=)
c.*49G>T (n.*49G>T)
c.390G>T (p.Val130=)
c.424+912G>T
c.246G>T (p.Val82=)
c.*323G>T (n.*323G>T)
 gnomAD v4
Xg.48905480C=CA2428428983SLC35A2c.429G= (p.Val143=)
c.355-588G= (n.355-588G=)
c.427-588G= (n.427-588G=)
c.212-221G=
c.213G= (p.Val71=)
c.513G= (p.Val171=)
c.468G= (p.Val156=)
c.*49G= (n.*49G=)
c.390G= (p.Val130=)
c.424+912G=
c.246G= (p.Val82=)
c.*323G= (n.*323G=)
Xg.48905480C>GCA516360152SLC35A2c.429G>C (p.Val143=)
c.355-588G>C (n.355-588G>C)
c.427-588G>C (n.427-588G>C)
c.212-221G>C
c.213G>C (p.Val71=)
c.513G>C (p.Val171=)
c.468G>C (p.Val156=)
c.*49G>C (n.*49G>C)
c.390G>C (p.Val130=)
c.424+912G>C
c.246G>C (p.Val82=)
c.*323G>C (n.*323G>C)
Xg.48905480C>TCA10406131SLC35A2c.429G>A (p.Val143=)
c.355-588G>A (n.355-588G>A)
c.427-588G>A (n.427-588G>A)
c.212-221G>A
c.213G>A (p.Val71=)
c.513G>A (p.Val171=)
c.468G>A (p.Val156=)
c.*49G>A (n.*49G>A)
c.390G>A (p.Val130=)
c.424+912G>A
c.246G>A (p.Val82=)
c.*323G>A (n.*323G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905481A>CCA412895987SLC35A2c.428T>G (p.Val143Gly)
c.355-589T>G (n.355-589T>G)
c.427-589T>G (n.427-589T>G)
c.212-222T>G
c.212T>G (p.Val71Gly)
c.512T>G (p.Val171Gly)
c.467T>G (p.Val156Gly)
c.*48T>G (n.*48T>G)
c.389T>G (p.Val130Gly)
c.424+911T>G
c.245T>G (p.Val82Gly)
c.*322T>G (n.*322T>G)
Xg.48905481A>GCA412895988SLC35A2c.428T>C (p.Val143Ala)
c.355-589T>C (n.355-589T>C)
c.427-589T>C (n.427-589T>C)
c.212-222T>C
c.212T>C (p.Val71Ala)
c.512T>C (p.Val171Ala)
c.467T>C (p.Val156Ala)
c.*48T>C (n.*48T>C)
c.389T>C (p.Val130Ala)
c.424+911T>C
c.245T>C (p.Val82Ala)
c.*322T>C (n.*322T>C)
 gnomAD v4
Xg.48905481A>TCA412895989SLC35A2c.428T>A (p.Val143Glu)
c.355-589T>A (n.355-589T>A)
c.427-589T>A (n.427-589T>A)
c.212-222T>A
c.212T>A (p.Val71Glu)
c.512T>A (p.Val171Glu)
c.467T>A (p.Val156Glu)
c.*48T>A (n.*48T>A)
c.389T>A (p.Val130Glu)
c.424+911T>A
c.245T>A (p.Val82Glu)
c.*322T>A (n.*322T>A)
Xg.48905482C>ACA412895990SLC35A2c.427G>T (p.Val143Leu)
c.355-590G>T (n.355-590G>T)
c.427-590G>T (n.427-590G>T)
c.212-223G>T
c.211G>T (p.Val71Leu)
c.511G>T (p.Val171Leu)
c.466G>T (p.Val156Leu)
c.*47G>T (n.*47G>T)
c.388G>T (p.Val130Leu)
c.424+910G>T
c.244G>T (p.Val82Leu)
c.*321G>T (n.*321G>T)
Xg.48905482C>GCA412895991SLC35A2c.427G>C (p.Val143Leu)
c.355-590G>C (n.355-590G>C)
c.427-590G>C (n.427-590G>C)
c.212-223G>C
c.211G>C (p.Val71Leu)
c.511G>C (p.Val171Leu)
c.466G>C (p.Val156Leu)
c.*47G>C (n.*47G>C)
c.388G>C (p.Val130Leu)
c.424+910G>C
c.244G>C (p.Val82Leu)
c.*321G>C (n.*321G>C)
Xg.48905482C>TCA412895992SLC35A2c.427G>A (p.Val143Met)
c.355-590G>A (n.355-590G>A)
c.427-590G>A (n.427-590G>A)
c.212-223G>A
c.211G>A (p.Val71Met)
c.511G>A (p.Val171Met)
c.466G>A (p.Val156Met)
c.*47G>A (n.*47G>A)
c.388G>A (p.Val130Met)
c.424+910G>A
c.244G>A (p.Val82Met)
c.*321G>A (n.*321G>A)
Xg.48905483C>ACA412895993SLC35A2c.427-1G>T (n.427-1G>T)
c.355-591G>T (n.355-591G>T)
c.427-591G>T (n.427-591G>T)
c.212-224G>T
c.211-1G>T (n.211-1G>T)
c.511-1G>T (n.511-1G>T)
c.466-1G>T (n.466-1G>T)
c.*47-1G>T (n.*47-1G>T)
c.388-1G>T (n.388-1G>T)
c.424+909G>T
c.244-1G>T (n.244-1G>T)
c.*321-1G>T (n.*321-1G>T)
Xg.48905483C>GCA412895994SLC35A2c.427-1G>C (n.427-1G>C)
c.355-591G>C (n.355-591G>C)
c.427-591G>C (n.427-591G>C)
c.212-224G>C
c.211-1G>C (n.211-1G>C)
c.511-1G>C (n.511-1G>C)
c.466-1G>C (n.466-1G>C)
c.*47-1G>C (n.*47-1G>C)
c.388-1G>C (n.388-1G>C)
c.424+909G>C
c.244-1G>C (n.244-1G>C)
c.*321-1G>C (n.*321-1G>C)
Xg.48905483C>TCA412895995SLC35A2c.427-1G>A (n.427-1G>A)
c.355-591G>A (n.355-591G>A)
c.427-591G>A (n.427-591G>A)
c.212-224G>A
c.211-1G>A (n.211-1G>A)
c.511-1G>A (n.511-1G>A)
c.466-1G>A (n.466-1G>A)
c.*47-1G>A (n.*47-1G>A)
c.388-1G>A (n.388-1G>A)
c.424+909G>A
c.244-1G>A (n.244-1G>A)
c.*321-1G>A (n.*321-1G>A)
Xg.48905484T>ACA412895996SLC35A2c.427-2A>T (n.427-2A>T)
c.355-592A>T (n.355-592A>T)
c.427-592A>T (n.427-592A>T)
c.212-225A>T
c.211-2A>T (n.211-2A>T)
c.511-2A>T (n.511-2A>T)
c.466-2A>T (n.466-2A>T)
c.*47-2A>T (n.*47-2A>T)
c.388-2A>T (n.388-2A>T)
c.424+908A>T
c.244-2A>T (n.244-2A>T)
c.*321-2A>T (n.*321-2A>T)
Xg.48905484T>CCA412895997SLC35A2c.427-2A>G (n.427-2A>G)
c.355-592A>G (n.355-592A>G)
c.427-592A>G (n.427-592A>G)
c.212-225A>G
c.211-2A>G (n.211-2A>G)
c.511-2A>G (n.511-2A>G)
c.466-2A>G (n.466-2A>G)
c.*47-2A>G (n.*47-2A>G)
c.388-2A>G (n.388-2A>G)
c.424+908A>G
c.244-2A>G (n.244-2A>G)
c.*321-2A>G (n.*321-2A>G)
 gnomAD v4
Xg.48905484T>GCA412895998SLC35A2c.427-2A>C (n.427-2A>C)
c.355-592A>C (n.355-592A>C)
c.427-592A>C (n.427-592A>C)
c.212-225A>C
c.211-2A>C (n.211-2A>C)
c.511-2A>C (n.511-2A>C)
c.466-2A>C (n.466-2A>C)
c.*47-2A>C (n.*47-2A>C)
c.388-2A>C (n.388-2A>C)
c.424+908A>C
c.244-2A>C (n.244-2A>C)
c.*321-2A>C (n.*321-2A>C)
Xg.48905486C>ACA2693659768SLC35A2c.427-4G>T (n.427-4G>T)
c.355-594G>T (n.355-594G>T)
c.427-594G>T (n.427-594G>T)
c.212-227G>T
c.211-4G>T (n.211-4G>T)
c.511-4G>T (n.511-4G>T)
c.466-4G>T (n.466-4G>T)
c.*47-4G>T (n.*47-4G>T)
c.388-4G>T (n.388-4G>T)
c.424+906G>T
c.244-4G>T (n.244-4G>T)
c.*321-4G>T (n.*321-4G>T)
 gnomAD v4
Xg.48905486C=CA2428428984SLC35A2c.427-4G= (n.427-4G=)
c.355-594G= (n.355-594G=)
c.427-594G= (n.427-594G=)
c.212-227G=
c.211-4G= (n.211-4G=)
c.511-4G= (n.511-4G=)
c.466-4G= (n.466-4G=)
c.*47-4G= (n.*47-4G=)
c.388-4G= (n.388-4G=)
c.424+906G=
c.244-4G= (n.244-4G=)
c.*321-4G= (n.*321-4G=)
Xg.48905486C>TCA10406132SLC35A2c.427-4G>A (n.427-4G>A)
c.355-594G>A (n.355-594G>A)
c.427-594G>A (n.427-594G>A)
c.212-227G>A
c.211-4G>A (n.211-4G>A)
c.511-4G>A (n.511-4G>A)
c.466-4G>A (n.466-4G>A)
c.*47-4G>A (n.*47-4G>A)
c.388-4G>A (n.388-4G>A)
c.424+906G>A
c.244-4G>A (n.244-4G>A)
c.*321-4G>A (n.*321-4G>A)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.48905487G>ACA641902151SLC35A2c.427-5C>T (n.427-5C>T)
c.355-595C>T (n.355-595C>T)
c.427-595C>T (n.427-595C>T)
c.212-228C>T
c.211-5C>T (n.211-5C>T)
c.511-5C>T (n.511-5C>T)
c.466-5C>T (n.466-5C>T)
c.*47-5C>T (n.*47-5C>T)
c.388-5C>T (n.388-5C>T)
c.424+905C>T
c.244-5C>T (n.244-5C>T)
c.*321-5C>T (n.*321-5C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905487G=CA2428428985SLC35A2c.427-5C= (n.427-5C=)
c.355-595C= (n.355-595C=)
c.427-595C= (n.427-595C=)
c.212-228C=
c.211-5C= (n.211-5C=)
c.511-5C= (n.511-5C=)
c.466-5C= (n.466-5C=)
c.*47-5C= (n.*47-5C=)
c.388-5C= (n.388-5C=)
c.424+905C=
c.244-5C= (n.244-5C=)
c.*321-5C= (n.*321-5C=)
Xg.48905489G>CCA2557722797SLC35A2c.427-7C>G (n.427-7C>G)
c.355-597C>G (n.355-597C>G)
c.427-597C>G (n.427-597C>G)
c.212-230C>G
c.211-7C>G (n.211-7C>G)
c.511-7C>G (n.511-7C>G)
c.466-7C>G (n.466-7C>G)
c.*47-7C>G (n.*47-7C>G)
c.388-7C>G (n.388-7C>G)
c.424+903C>G
c.244-7C>G (n.244-7C>G)
c.*321-7C>G (n.*321-7C>G)
Xg.48905490T>ACA2559658251SLC35A2c.427-8A>T (n.427-8A>T)
c.355-598A>T (n.355-598A>T)
c.427-598A>T (n.427-598A>T)
c.212-231A>T
c.211-8A>T (n.211-8A>T)
c.511-8A>T (n.511-8A>T)
c.466-8A>T (n.466-8A>T)
c.*47-8A>T (n.*47-8A>T)
c.388-8A>T (n.388-8A>T)
c.424+902A>T
c.244-8A>T (n.244-8A>T)
c.*321-8A>T (n.*321-8A>T)
Xg.48905490T>CCA2548998479SLC35A2c.427-8A>G (n.427-8A>G)
c.355-598A>G (n.355-598A>G)
c.427-598A>G (n.427-598A>G)
c.212-231A>G
c.211-8A>G (n.211-8A>G)
c.511-8A>G (n.511-8A>G)
c.466-8A>G (n.466-8A>G)
c.*47-8A>G (n.*47-8A>G)
c.388-8A>G (n.388-8A>G)
c.424+902A>G
c.244-8A>G (n.244-8A>G)
c.*321-8A>G (n.*321-8A>G)
Xg.48905491G>ACA2693659774SLC35A2c.427-9C>T (n.427-9C>T)
c.355-599C>T (n.355-599C>T)
c.427-599C>T (n.427-599C>T)
c.212-232C>T
c.211-9C>T (n.211-9C>T)
c.511-9C>T (n.511-9C>T)
c.466-9C>T (n.466-9C>T)
c.*47-9C>T (n.*47-9C>T)
c.388-9C>T (n.388-9C>T)
c.424+901C>T
c.244-9C>T (n.244-9C>T)
c.*321-9C>T (n.*321-9C>T)
 gnomAD v4
Xg.48905491G>TCA2693659776SLC35A2c.427-9C>A (n.427-9C>A)
c.355-599C>A (n.355-599C>A)
c.427-599C>A (n.427-599C>A)
c.212-232C>A
c.211-9C>A (n.211-9C>A)
c.511-9C>A (n.511-9C>A)
c.466-9C>A (n.466-9C>A)
c.*47-9C>A (n.*47-9C>A)
c.388-9C>A (n.388-9C>A)
c.424+901C>A
c.244-9C>A (n.244-9C>A)
c.*321-9C>A (n.*321-9C>A)
 gnomAD v4
Xg.48905492G>ACA2693659777SLC35A2c.427-10C>T (n.427-10C>T)
c.355-600C>T (n.355-600C>T)
c.427-600C>T (n.427-600C>T)
c.212-233C>T
c.211-10C>T (n.211-10C>T)
c.511-10C>T (n.511-10C>T)
c.466-10C>T (n.466-10C>T)
c.*47-10C>T (n.*47-10C>T)
c.388-10C>T (n.388-10C>T)
c.424+900C>T
c.244-10C>T (n.244-10C>T)
c.*321-10C>T (n.*321-10C>T)
 gnomAD v4
Xg.48905495C>ACA2693659780SLC35A2c.427-13G>T (n.427-13G>T)
c.355-603G>T (n.355-603G>T)
c.427-603G>T (n.427-603G>T)
c.212-236G>T
c.211-13G>T (n.211-13G>T)
c.511-13G>T (n.511-13G>T)
c.466-13G>T (n.466-13G>T)
c.*47-13G>T (n.*47-13G>T)
c.388-13G>T (n.388-13G>T)
c.424+897G>T
c.244-13G>T (n.244-13G>T)
c.*321-13G>T (n.*321-13G>T)
 gnomAD v4
Xg.48905495C=CA2428428986SLC35A2c.427-13G= (n.427-13G=)
c.355-603G= (n.355-603G=)
c.427-603G= (n.427-603G=)
c.212-236G=
c.211-13G= (n.211-13G=)
c.511-13G= (n.511-13G=)
c.466-13G= (n.466-13G=)
c.*47-13G= (n.*47-13G=)
c.388-13G= (n.388-13G=)
c.424+897G=
c.244-13G= (n.244-13G=)
c.*321-13G= (n.*321-13G=)
Xg.48905495C>TCA10406133SLC35A2c.427-13G>A (n.427-13G>A)
c.355-603G>A (n.355-603G>A)
c.427-603G>A (n.427-603G>A)
c.212-236G>A
c.211-13G>A (n.211-13G>A)
c.511-13G>A (n.511-13G>A)
c.466-13G>A (n.466-13G>A)
c.*47-13G>A (n.*47-13G>A)
c.388-13G>A (n.388-13G>A)
c.424+897G>A
c.244-13G>A (n.244-13G>A)
c.*321-13G>A (n.*321-13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905495_48905496delCA2521243826SLC35A2c.427-14_427-13del (n.427-14_427-13del)
c.355-604_355-603del (n.355-604_355-603del)
c.427-604_427-603del (n.427-604_427-603del)
c.212-237_212-236del
c.211-14_211-13del (n.211-14_211-13del)
c.511-14_511-13del (n.511-14_511-13del)
c.466-14_466-13del (n.466-14_466-13del)
c.*47-14_*47-13del (n.*47-14_*47-13del)
c.388-14_388-13del (n.388-14_388-13del)
c.424+896_424+897del
c.244-14_244-13del (n.244-14_244-13del)
c.*321-14_*321-13del (n.*321-14_*321-13del)

Number of alleles fetched