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.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.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.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.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

Number of alleles fetched