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.48905189G>ACA516360027SLC35A2c.720C>T (p.Leu240=)
c.355-297C>T (n.355-297C>T)
c.427-297C>T (n.427-297C>T)
c.282C>T
c.504C>T (p.Leu168=)
c.804C>T (p.Leu268=)
c.759C>T (p.Leu253=)
c.424+1203C>T
c.537C>T (p.Leu179=)
c.*614C>T (n.*614C>T)
Xg.48905189G>CCA516360024SLC35A2c.720C>G (p.Leu240=)
c.355-297C>G (n.355-297C>G)
c.427-297C>G (n.427-297C>G)
c.282C>G
c.504C>G (p.Leu168=)
c.804C>G (p.Leu268=)
c.759C>G (p.Leu253=)
c.424+1203C>G
c.537C>G (p.Leu179=)
c.*614C>G (n.*614C>G)
Xg.48905189G>TCA516360026SLC35A2c.720C>A (p.Leu240=)
c.355-297C>A (n.355-297C>A)
c.427-297C>A (n.427-297C>A)
c.282C>A
c.504C>A (p.Leu168=)
c.804C>A (p.Leu268=)
c.759C>A (p.Leu253=)
c.424+1203C>A
c.537C>A (p.Leu179=)
c.*614C>A (n.*614C>A)
Xg.48905190A>CCA412895364SLC35A2c.719T>G (p.Leu240Arg)
c.355-298T>G (n.355-298T>G)
c.427-298T>G (n.427-298T>G)
c.281T>G
c.503T>G (p.Leu168Arg)
c.803T>G (p.Leu268Arg)
c.758T>G (p.Leu253Arg)
c.424+1202T>G
c.536T>G (p.Leu179Arg)
c.*613T>G (n.*613T>G)
Xg.48905190A>GCA412895363SLC35A2c.719T>C (p.Leu240Pro)
c.355-298T>C (n.355-298T>C)
c.427-298T>C (n.427-298T>C)
c.281T>C
c.503T>C (p.Leu168Pro)
c.803T>C (p.Leu268Pro)
c.758T>C (p.Leu253Pro)
c.424+1202T>C
c.536T>C (p.Leu179Pro)
c.*613T>C (n.*613T>C)
Xg.48905190A>TCA412895365SLC35A2c.719T>A (p.Leu240His)
c.355-298T>A (n.355-298T>A)
c.427-298T>A (n.427-298T>A)
c.281T>A
c.503T>A (p.Leu168His)
c.803T>A (p.Leu268His)
c.758T>A (p.Leu253His)
c.424+1202T>A
c.536T>A (p.Leu179His)
c.*613T>A (n.*613T>A)
Xg.48905191G>ACA412895366SLC35A2c.718C>T (p.Leu240Phe)
c.355-299C>T (n.355-299C>T)
c.427-299C>T (n.427-299C>T)
c.280C>T
c.502C>T (p.Leu168Phe)
c.802C>T (p.Leu268Phe)
c.757C>T (p.Leu253Phe)
c.424+1201C>T
c.535C>T (p.Leu179Phe)
c.*612C>T (n.*612C>T)
 ClinVar
Xg.48905191G>CCA412895368SLC35A2c.718C>G (p.Leu240Val)
c.355-299C>G (n.355-299C>G)
c.427-299C>G (n.427-299C>G)
c.280C>G
c.502C>G (p.Leu168Val)
c.802C>G (p.Leu268Val)
c.757C>G (p.Leu253Val)
c.424+1201C>G
c.535C>G (p.Leu179Val)
c.*612C>G (n.*612C>G)
 dbSNP
Xg.48905191G=CA2428428895SLC35A2c.718C= (p.Leu240=)
c.355-299C= (n.355-299C=)
c.427-299C= (n.427-299C=)
c.280C=
c.502C= (p.Leu168=)
c.802C= (p.Leu268=)
c.757C= (p.Leu253=)
c.424+1201C=
c.535C= (p.Leu179=)
c.*612C= (n.*612C=)
Xg.48905191G>TCA412895367SLC35A2c.718C>A (p.Leu240Ile)
c.355-299C>A (n.355-299C>A)
c.427-299C>A (n.427-299C>A)
c.280C>A
c.502C>A (p.Leu168Ile)
c.802C>A (p.Leu268Ile)
c.757C>A (p.Leu253Ile)
c.424+1201C>A
c.535C>A (p.Leu179Ile)
c.*612C>A (n.*612C>A)
Xg.48905192G>ACA516360028SLC35A2c.717C>T (p.Gly239=)
c.355-300C>T (n.355-300C>T)
c.427-300C>T (n.427-300C>T)
c.279C>T
c.501C>T (p.Gly167=)
c.801C>T (p.Gly267=)
c.756C>T (p.Gly252=)
c.424+1200C>T
c.534C>T (p.Gly178=)
c.*611C>T (n.*611C>T)
Xg.48905192G>CCA516360030SLC35A2c.717C>G (p.Gly239=)
c.355-300C>G (n.355-300C>G)
c.427-300C>G (n.427-300C>G)
c.279C>G
c.501C>G (p.Gly167=)
c.801C>G (p.Gly267=)
c.756C>G (p.Gly252=)
c.424+1200C>G
c.534C>G (p.Gly178=)
c.*611C>G (n.*611C>G)
Xg.48905192G>TCA516360031SLC35A2c.717C>A (p.Gly239=)
c.355-300C>A (n.355-300C>A)
c.427-300C>A (n.427-300C>A)
c.279C>A
c.501C>A (p.Gly167=)
c.801C>A (p.Gly267=)
c.756C>A (p.Gly252=)
c.424+1200C>A
c.534C>A (p.Gly178=)
c.*611C>A (n.*611C>A)
Xg.48905193C>ACA412895369SLC35A2c.716G>T (p.Gly239Val)
c.355-301G>T (n.355-301G>T)
c.427-301G>T (n.427-301G>T)
c.278G>T
c.500G>T (p.Gly167Val)
c.800G>T (p.Gly267Val)
c.755G>T (p.Gly252Val)
c.424+1199G>T
c.533G>T (p.Gly178Val)
c.*610G>T (n.*610G>T)
Xg.48905193C>GCA412895370SLC35A2c.716G>C (p.Gly239Ala)
c.355-301G>C (n.355-301G>C)
c.427-301G>C (n.427-301G>C)
c.278G>C
c.500G>C (p.Gly167Ala)
c.800G>C (p.Gly267Ala)
c.755G>C (p.Gly252Ala)
c.424+1199G>C
c.533G>C (p.Gly178Ala)
c.*610G>C (n.*610G>C)
Xg.48905193C>TCA412895371SLC35A2c.716G>A (p.Gly239Asp)
c.355-301G>A (n.355-301G>A)
c.427-301G>A (n.427-301G>A)
c.278G>A
c.500G>A (p.Gly167Asp)
c.800G>A (p.Gly267Asp)
c.755G>A (p.Gly252Asp)
c.424+1199G>A
c.533G>A (p.Gly178Asp)
c.*610G>A (n.*610G>A)
Xg.48905194C>ACA412895372SLC35A2c.715G>T (p.Gly239Cys)
c.355-302G>T (n.355-302G>T)
c.427-302G>T (n.427-302G>T)
c.277G>T
c.499G>T (p.Gly167Cys)
c.799G>T (p.Gly267Cys)
c.754G>T (p.Gly252Cys)
c.424+1198G>T
c.532G>T (p.Gly178Cys)
c.*609G>T (n.*609G>T)
Xg.48905194C>GCA412895373SLC35A2c.715G>C (p.Gly239Arg)
c.355-302G>C (n.355-302G>C)
c.427-302G>C (n.427-302G>C)
c.277G>C
c.499G>C (p.Gly167Arg)
c.799G>C (p.Gly267Arg)
c.754G>C (p.Gly252Arg)
c.424+1198G>C
c.532G>C (p.Gly178Arg)
c.*609G>C (n.*609G>C)
Xg.48905194C>TCA412895374SLC35A2c.715G>A (p.Gly239Ser)
c.355-302G>A (n.355-302G>A)
c.427-302G>A (n.427-302G>A)
c.277G>A
c.499G>A (p.Gly167Ser)
c.799G>A (p.Gly267Ser)
c.754G>A (p.Gly252Ser)
c.424+1198G>A
c.532G>A (p.Gly178Ser)
c.*609G>A (n.*609G>A)
Xg.48905195C>ACA516360035SLC35A2c.714G>T (p.Leu238=)
c.355-303G>T (n.355-303G>T)
c.427-303G>T (n.427-303G>T)
c.276G>T
c.498G>T (p.Leu166=)
c.798G>T (p.Leu266=)
c.753G>T (p.Leu251=)
c.424+1197G>T
c.531G>T (p.Leu177=)
c.*608G>T (n.*608G>T)
 gnomAD v4
Xg.48905195C>GCA516360033SLC35A2c.714G>C (p.Leu238=)
c.355-303G>C (n.355-303G>C)
c.427-303G>C (n.427-303G>C)
c.276G>C
c.498G>C (p.Leu166=)
c.798G>C (p.Leu266=)
c.753G>C (p.Leu251=)
c.424+1197G>C
c.531G>C (p.Leu177=)
c.*608G>C (n.*608G>C)
Xg.48905195C>TCA516360037SLC35A2c.714G>A (p.Leu238=)
c.355-303G>A (n.355-303G>A)
c.427-303G>A (n.427-303G>A)
c.276G>A
c.498G>A (p.Leu166=)
c.798G>A (p.Leu266=)
c.753G>A (p.Leu251=)
c.424+1197G>A
c.531G>A (p.Leu177=)
c.*608G>A (n.*608G>A)
Xg.48905196A>CCA412895375SLC35A2c.713T>G (p.Leu238Arg)
c.355-304T>G (n.355-304T>G)
c.427-304T>G (n.427-304T>G)
c.275T>G
c.497T>G (p.Leu166Arg)
c.797T>G (p.Leu266Arg)
c.752T>G (p.Leu251Arg)
c.424+1196T>G
c.530T>G (p.Leu177Arg)
c.*607T>G (n.*607T>G)
Xg.48905196A>GCA412895376SLC35A2c.713T>C (p.Leu238Pro)
c.355-304T>C (n.355-304T>C)
c.427-304T>C (n.427-304T>C)
c.275T>C
c.497T>C (p.Leu166Pro)
c.797T>C (p.Leu266Pro)
c.752T>C (p.Leu251Pro)
c.424+1196T>C
c.530T>C (p.Leu177Pro)
c.*607T>C (n.*607T>C)
Xg.48905196A>TCA412895377SLC35A2c.713T>A (p.Leu238Gln)
c.355-304T>A (n.355-304T>A)
c.427-304T>A (n.427-304T>A)
c.275T>A
c.497T>A (p.Leu166Gln)
c.797T>A (p.Leu266Gln)
c.752T>A (p.Leu251Gln)
c.424+1196T>A
c.530T>A (p.Leu177Gln)
c.*607T>A (n.*607T>A)
Xg.48905197G>ACA516360041SLC35A2c.712C>T (p.Leu238=)
c.355-305C>T (n.355-305C>T)
c.427-305C>T (n.427-305C>T)
c.274C>T
c.496C>T (p.Leu166=)
c.796C>T (p.Leu266=)
c.751C>T (p.Leu251=)
c.424+1195C>T
c.529C>T (p.Leu177=)
c.*606C>T (n.*606C>T)
Xg.48905197G>CCA412895378SLC35A2c.712C>G (p.Leu238Val)
c.355-305C>G (n.355-305C>G)
c.427-305C>G (n.427-305C>G)
c.274C>G
c.496C>G (p.Leu166Val)
c.796C>G (p.Leu266Val)
c.751C>G (p.Leu251Val)
c.424+1195C>G
c.529C>G (p.Leu177Val)
c.*606C>G (n.*606C>G)
Xg.48905197G>TCA412895379SLC35A2c.712C>A (p.Leu238Met)
c.355-305C>A (n.355-305C>A)
c.427-305C>A (n.427-305C>A)
c.274C>A
c.496C>A (p.Leu166Met)
c.796C>A (p.Leu266Met)
c.751C>A (p.Leu251Met)
c.424+1195C>A
c.529C>A (p.Leu177Met)
c.*606C>A (n.*606C>A)
Xg.48905198T>ACA412895380SLC35A2c.711A>T (p.Gln237His)
c.355-306A>T (n.355-306A>T)
c.427-306A>T (n.427-306A>T)
c.273A>T
c.495A>T (p.Gln165His)
c.795A>T (p.Gln265His)
c.750A>T (p.Gln250His)
c.424+1194A>T
c.528A>T (p.Gln176His)
c.*605A>T (n.*605A>T)
Xg.48905198T>CCA516360043SLC35A2c.711A>G (p.Gln237=)
c.355-306A>G (n.355-306A>G)
c.427-306A>G (n.427-306A>G)
c.273A>G
c.495A>G (p.Gln165=)
c.795A>G (p.Gln265=)
c.750A>G (p.Gln250=)
c.424+1194A>G
c.528A>G (p.Gln176=)
c.*605A>G (n.*605A>G)
Xg.48905198T>GCA412895381SLC35A2c.711A>C (p.Gln237His)
c.355-306A>C (n.355-306A>C)
c.427-306A>C (n.427-306A>C)
c.273A>C
c.495A>C (p.Gln165His)
c.795A>C (p.Gln265His)
c.750A>C (p.Gln250His)
c.424+1194A>C
c.528A>C (p.Gln176His)
c.*605A>C (n.*605A>C)
Xg.48905199T>ACA412895382SLC35A2c.710A>T (p.Gln237Leu)
c.355-307A>T (n.355-307A>T)
c.427-307A>T (n.427-307A>T)
c.272A>T
c.494A>T (p.Gln165Leu)
c.794A>T (p.Gln265Leu)
c.749A>T (p.Gln250Leu)
c.424+1193A>T
c.527A>T (p.Gln176Leu)
c.*604A>T (n.*604A>T)
Xg.48905199T>CCA412895384SLC35A2c.710A>G (p.Gln237Arg)
c.355-307A>G (n.355-307A>G)
c.427-307A>G (n.427-307A>G)
c.272A>G
c.494A>G (p.Gln165Arg)
c.794A>G (p.Gln265Arg)
c.749A>G (p.Gln250Arg)
c.424+1193A>G
c.527A>G (p.Gln176Arg)
c.*604A>G (n.*604A>G)
Xg.48905199T>GCA412895383SLC35A2c.710A>C (p.Gln237Pro)
c.355-307A>C (n.355-307A>C)
c.427-307A>C (n.427-307A>C)
c.272A>C
c.494A>C (p.Gln165Pro)
c.794A>C (p.Gln265Pro)
c.749A>C (p.Gln250Pro)
c.424+1193A>C
c.527A>C (p.Gln176Pro)
c.*604A>C (n.*604A>C)
Xg.48905200G>ACA412895385SLC35A2c.709C>T (p.Gln237Ter)
c.355-308C>T (n.355-308C>T)
c.427-308C>T (n.427-308C>T)
c.271C>T
c.493C>T (p.Gln165Ter)
c.793C>T (p.Gln265Ter)
c.748C>T (p.Gln250Ter)
c.424+1192C>T
c.526C>T (p.Gln176Ter)
c.*603C>T (n.*603C>T)
Xg.48905200G>CCA412895386SLC35A2c.709C>G (p.Gln237Glu)
c.355-308C>G (n.355-308C>G)
c.427-308C>G (n.427-308C>G)
c.271C>G
c.493C>G (p.Gln165Glu)
c.793C>G (p.Gln265Glu)
c.748C>G (p.Gln250Glu)
c.424+1192C>G
c.526C>G (p.Gln176Glu)
c.*603C>G (n.*603C>G)
Xg.48905200G>TCA412895387SLC35A2c.709C>A (p.Gln237Lys)
c.355-308C>A (n.355-308C>A)
c.427-308C>A (n.427-308C>A)
c.271C>A
c.493C>A (p.Gln165Lys)
c.793C>A (p.Gln265Lys)
c.748C>A (p.Gln250Lys)
c.424+1192C>A
c.526C>A (p.Gln176Lys)
c.*603C>A (n.*603C>A)
Xg.48905201C>ACA516360045SLC35A2c.708G>T (p.Leu236=)
c.355-309G>T (n.355-309G>T)
c.427-309G>T (n.427-309G>T)
c.270G>T
c.492G>T (p.Leu164=)
c.792G>T (p.Leu264=)
c.747G>T (p.Leu249=)
c.424+1191G>T
c.525G>T (p.Leu175=)
c.*602G>T (n.*602G>T)
Xg.48905201C=CA2428428896SLC35A2c.708G= (p.Leu236=)
c.355-309G= (n.355-309G=)
c.427-309G= (n.427-309G=)
c.270G=
c.492G= (p.Leu164=)
c.792G= (p.Leu264=)
c.747G= (p.Leu249=)
c.424+1191G=
c.525G= (p.Leu175=)
c.*602G= (n.*602G=)
Xg.48905201C>GCA516360046SLC35A2c.708G>C (p.Leu236=)
c.355-309G>C (n.355-309G>C)
c.427-309G>C (n.427-309G>C)
c.270G>C
c.492G>C (p.Leu164=)
c.792G>C (p.Leu264=)
c.747G>C (p.Leu249=)
c.424+1191G>C
c.525G>C (p.Leu175=)
c.*602G>C (n.*602G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905201C>TCA516360048SLC35A2c.708G>A (p.Leu236=)
c.355-309G>A (n.355-309G>A)
c.427-309G>A (n.427-309G>A)
c.270G>A
c.492G>A (p.Leu164=)
c.792G>A (p.Leu264=)
c.747G>A (p.Leu249=)
c.424+1191G>A
c.525G>A (p.Leu175=)
c.*602G>A (n.*602G>A)
 gnomAD v4
Xg.48905202A>CCA412895388SLC35A2c.707T>G (p.Leu236Arg)
c.355-310T>G (n.355-310T>G)
c.427-310T>G (n.427-310T>G)
c.269T>G
c.491T>G (p.Leu164Arg)
c.791T>G (p.Leu264Arg)
c.746T>G (p.Leu249Arg)
c.424+1190T>G
c.524T>G (p.Leu175Arg)
c.*601T>G (n.*601T>G)
Xg.48905202A>GCA412895389SLC35A2c.707T>C (p.Leu236Pro)
c.355-310T>C (n.355-310T>C)
c.427-310T>C (n.427-310T>C)
c.269T>C
c.491T>C (p.Leu164Pro)
c.791T>C (p.Leu264Pro)
c.746T>C (p.Leu249Pro)
c.424+1190T>C
c.524T>C (p.Leu175Pro)
c.*601T>C (n.*601T>C)
Xg.48905202A>TCA412895390SLC35A2c.707T>A (p.Leu236Gln)
c.355-310T>A (n.355-310T>A)
c.427-310T>A (n.427-310T>A)
c.269T>A
c.491T>A (p.Leu164Gln)
c.791T>A (p.Leu264Gln)
c.746T>A (p.Leu249Gln)
c.424+1190T>A
c.524T>A (p.Leu175Gln)
c.*601T>A (n.*601T>A)
Xg.48905203G>ACA516360051SLC35A2c.706C>T (p.Leu236=)
c.355-311C>T (n.355-311C>T)
c.427-311C>T (n.427-311C>T)
c.268C>T
c.490C>T (p.Leu164=)
c.790C>T (p.Leu264=)
c.745C>T (p.Leu249=)
c.424+1189C>T
c.523C>T (p.Leu175=)
c.*600C>T (n.*600C>T)
Xg.48905203G>CCA412895391SLC35A2c.706C>G (p.Leu236Val)
c.355-311C>G (n.355-311C>G)
c.427-311C>G (n.427-311C>G)
c.268C>G
c.490C>G (p.Leu164Val)
c.790C>G (p.Leu264Val)
c.745C>G (p.Leu249Val)
c.424+1189C>G
c.523C>G (p.Leu175Val)
c.*600C>G (n.*600C>G)
Xg.48905203G>TCA412895392SLC35A2c.706C>A (p.Leu236Met)
c.355-311C>A (n.355-311C>A)
c.427-311C>A (n.427-311C>A)
c.268C>A
c.490C>A (p.Leu164Met)
c.790C>A (p.Leu264Met)
c.745C>A (p.Leu249Met)
c.424+1189C>A
c.523C>A (p.Leu175Met)
c.*600C>A (n.*600C>A)
Xg.48905204G>ACA516360054SLC35A2c.705C>T (p.Asn235=)
c.355-312C>T (n.355-312C>T)
c.427-312C>T (n.427-312C>T)
c.267C>T
c.489C>T (p.Asn163=)
c.789C>T (p.Asn263=)
c.744C>T (p.Asn248=)
c.424+1188C>T
c.522C>T (p.Asn174=)
c.*599C>T (n.*599C>T)

Number of alleles fetched