Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48905133G>ACA412895244SLC35A2c.776C>T (p.Ala259Val)
c.355-241C>T (n.355-241C>T)
c.427-241C>T (n.427-241C>T)
c.338C>T
c.860C>T (p.Ala287Val)
c.815C>T (p.Ala272Val)
c.424+1259C>T
c.593C>T (p.Ala198Val)
c.*670C>T (n.*670C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905133G>CCA412895243SLC35A2c.776C>G (p.Ala259Gly)
c.355-241C>G (n.355-241C>G)
c.427-241C>G (n.427-241C>G)
c.338C>G
c.860C>G (p.Ala287Gly)
c.815C>G (p.Ala272Gly)
c.424+1259C>G
c.593C>G (p.Ala198Gly)
c.*670C>G (n.*670C>G)
Xg.48905133G=CA2428428879SLC35A2c.776C= (p.Ala259=)
c.355-241C= (n.355-241C=)
c.427-241C= (n.427-241C=)
c.338C=
c.860C= (p.Ala287=)
c.815C= (p.Ala272=)
c.424+1259C=
c.593C= (p.Ala198=)
c.*670C= (n.*670C=)
Xg.48905133G>TCA412895242SLC35A2c.776C>A (p.Ala259Asp)
c.355-241C>A (n.355-241C>A)
c.427-241C>A (n.427-241C>A)
c.338C>A
c.860C>A (p.Ala287Asp)
c.815C>A (p.Ala272Asp)
c.424+1259C>A
c.593C>A (p.Ala198Asp)
c.*670C>A (n.*670C>A)
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.48905134C>ACA412895245SLC35A2c.775G>T (p.Ala259Ser)
c.355-242G>T (n.355-242G>T)
c.427-242G>T (n.427-242G>T)
c.337G>T
c.859G>T (p.Ala287Ser)
c.814G>T (p.Ala272Ser)
c.424+1258G>T
c.592G>T (p.Ala198Ser)
c.*669G>T (n.*669G>T)
Xg.48905134C=CA2428428881SLC35A2c.775G= (p.Ala259=)
c.355-242G= (n.355-242G=)
c.427-242G= (n.427-242G=)
c.337G=
c.859G= (p.Ala287=)
c.814G= (p.Ala272=)
c.424+1258G=
c.592G= (p.Ala198=)
c.*669G= (n.*669G=)
Xg.48905134C>GCA412895246SLC35A2c.775G>C (p.Ala259Pro)
c.355-242G>C (n.355-242G>C)
c.427-242G>C (n.427-242G>C)
c.337G>C
c.859G>C (p.Ala287Pro)
c.814G>C (p.Ala272Pro)
c.424+1258G>C
c.592G>C (p.Ala198Pro)
c.*669G>C (n.*669G>C)
Xg.48905134C>TCA10406097SLC35A2c.775G>A (p.Ala259Thr)
c.355-242G>A (n.355-242G>A)
c.427-242G>A (n.427-242G>A)
c.337G>A
c.859G>A (p.Ala287Thr)
c.814G>A (p.Ala272Thr)
c.424+1258G>A
c.592G>A (p.Ala198Thr)
c.*669G>A (n.*669G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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.48905135C>ACA516360090SLC35A2c.774G>T (p.Val258=)
c.355-243G>T (n.355-243G>T)
c.427-243G>T (n.427-243G>T)
c.336G>T
c.858G>T (p.Val286=)
c.813G>T (p.Val271=)
c.424+1257G>T
c.591G>T (p.Val197=)
c.*668G>T (n.*668G>T)
Xg.48905135C>GCA516360092SLC35A2c.774G>C (p.Val258=)
c.355-243G>C (n.355-243G>C)
c.427-243G>C (n.427-243G>C)
c.336G>C
c.858G>C (p.Val286=)
c.813G>C (p.Val271=)
c.424+1257G>C
c.591G>C (p.Val197=)
c.*668G>C (n.*668G>C)
Xg.48905135C>TCA516360093SLC35A2c.774G>A (p.Val258=)
c.355-243G>A (n.355-243G>A)
c.427-243G>A (n.427-243G>A)
c.336G>A
c.858G>A (p.Val286=)
c.813G>A (p.Val271=)
c.424+1257G>A
c.591G>A (p.Val197=)
c.*668G>A (n.*668G>A)
Xg.48905136A>CCA412895247SLC35A2c.773T>G (p.Val258Gly)
c.355-244T>G (n.355-244T>G)
c.427-244T>G (n.427-244T>G)
c.335T>G
c.857T>G (p.Val286Gly)
c.812T>G (p.Val271Gly)
c.424+1256T>G
c.590T>G (p.Val197Gly)
c.*667T>G (n.*667T>G)
Xg.48905136A>GCA412895249SLC35A2c.773T>C (p.Val258Ala)
c.355-244T>C (n.355-244T>C)
c.427-244T>C (n.427-244T>C)
c.335T>C
c.857T>C (p.Val286Ala)
c.812T>C (p.Val271Ala)
c.424+1256T>C
c.590T>C (p.Val197Ala)
c.*667T>C (n.*667T>C)
Xg.48905136A>TCA412895248SLC35A2c.773T>A (p.Val258Glu)
c.355-244T>A (n.355-244T>A)
c.427-244T>A (n.427-244T>A)
c.335T>A
c.857T>A (p.Val286Glu)
c.812T>A (p.Val271Glu)
c.424+1256T>A
c.590T>A (p.Val197Glu)
c.*667T>A (n.*667T>A)
Xg.48905137C>ACA412895250SLC35A2c.772G>T (p.Val258Leu)
c.355-245G>T (n.355-245G>T)
c.427-245G>T (n.427-245G>T)
c.334G>T
c.856G>T (p.Val286Leu)
c.811G>T (p.Val271Leu)
c.424+1255G>T
c.589G>T (p.Val197Leu)
c.*666G>T (n.*666G>T)
Xg.48905137C=CA2428428882SLC35A2c.772G= (p.Val258=)
c.355-245G= (n.355-245G=)
c.427-245G= (n.427-245G=)
c.334G=
c.856G= (p.Val286=)
c.811G= (p.Val271=)
c.424+1255G=
c.589G= (p.Val197=)
c.*666G= (n.*666G=)
Xg.48905137C>GCA412895251SLC35A2c.772G>C (p.Val258Leu)
c.355-245G>C (n.355-245G>C)
c.427-245G>C (n.427-245G>C)
c.334G>C
c.856G>C (p.Val286Leu)
c.811G>C (p.Val271Leu)
c.424+1255G>C
c.589G>C (p.Val197Leu)
c.*666G>C (n.*666G>C)
Xg.48905137C>TCA412895252SLC35A2c.772G>A (p.Val258Met)
c.355-245G>A (n.355-245G>A)
c.427-245G>A (n.427-245G>A)
c.334G>A
c.856G>A (p.Val286Met)
c.811G>A (p.Val271Met)
c.424+1255G>A
c.589G>A (p.Val197Met)
c.*666G>A (n.*666G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905137_48905143delCA916084082SLC35A2c.766_772del (p.Thr256TrpfsTer?)
c.355-251_355-245del (n.355-251_355-245del)
c.427-251_427-245del (n.427-251_427-245del)
c.328_334del
c.850_856del (p.Thr284TrpfsTer?)
c.805_811del (p.Thr269TrpfsTer?)
c.424+1249_424+1255del
c.583_589del (p.Thr195TrpfsTer?)
c.*660_*666del (n.*660_*666del)
Xg.48905138G>ACA10406098SLC35A2c.771C>T (p.Ala257=)
c.355-246C>T (n.355-246C>T)
c.427-246C>T (n.427-246C>T)
c.333C>T
c.855C>T (p.Ala285=)
c.810C>T (p.Ala270=)
c.424+1254C>T
c.588C>T (p.Ala196=)
c.*665C>T (n.*665C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905138G>CCA516360098SLC35A2c.771C>G (p.Ala257=)
c.355-246C>G (n.355-246C>G)
c.427-246C>G (n.427-246C>G)
c.333C>G
c.855C>G (p.Ala285=)
c.810C>G (p.Ala270=)
c.424+1254C>G
c.588C>G (p.Ala196=)
c.*665C>G (n.*665C>G)
Xg.48905138G=CA2428428883SLC35A2c.771C= (p.Ala257=)
c.355-246C= (n.355-246C=)
c.427-246C= (n.427-246C=)
c.333C=
c.855C= (p.Ala285=)
c.810C= (p.Ala270=)
c.424+1254C=
c.588C= (p.Ala196=)
c.*665C= (n.*665C=)
Xg.48905138G>TCA516360099SLC35A2c.771C>A (p.Ala257=)
c.355-246C>A (n.355-246C>A)
c.427-246C>A (n.427-246C>A)
c.333C>A
c.855C>A (p.Ala285=)
c.810C>A (p.Ala270=)
c.424+1254C>A
c.588C>A (p.Ala196=)
c.*665C>A (n.*665C>A)
Xg.48905139G>ACA412895253SLC35A2c.770C>T (p.Ala257Val)
c.355-247C>T (n.355-247C>T)
c.427-247C>T (n.427-247C>T)
c.332C>T
c.854C>T (p.Ala285Val)
c.809C>T (p.Ala270Val)
c.424+1253C>T
c.587C>T (p.Ala196Val)
c.*664C>T (n.*664C>T)
Xg.48905139G>CCA412895254SLC35A2c.770C>G (p.Ala257Gly)
c.355-247C>G (n.355-247C>G)
c.427-247C>G (n.427-247C>G)
c.332C>G
c.854C>G (p.Ala285Gly)
c.809C>G (p.Ala270Gly)
c.424+1253C>G
c.587C>G (p.Ala196Gly)
c.*664C>G (n.*664C>G)
Xg.48905139G>TCA412895255SLC35A2c.770C>A (p.Ala257Asp)
c.355-247C>A (n.355-247C>A)
c.427-247C>A (n.427-247C>A)
c.332C>A
c.854C>A (p.Ala285Asp)
c.809C>A (p.Ala270Asp)
c.424+1253C>A
c.587C>A (p.Ala196Asp)
c.*664C>A (n.*664C>A)
Xg.48905140C>ACA412895256SLC35A2c.769G>T (p.Ala257Ser)
c.355-248G>T (n.355-248G>T)
c.427-248G>T (n.427-248G>T)
c.331G>T
c.853G>T (p.Ala285Ser)
c.808G>T (p.Ala270Ser)
c.424+1252G>T
c.586G>T (p.Ala196Ser)
c.*663G>T (n.*663G>T)
Xg.48905140C=CA2428428884SLC35A2c.769G= (p.Ala257=)
c.355-248G= (n.355-248G=)
c.427-248G= (n.427-248G=)
c.331G=
c.853G= (p.Ala285=)
c.808G= (p.Ala270=)
c.424+1252G=
c.586G= (p.Ala196=)
c.*663G= (n.*663G=)
Xg.48905140C>GCA412895257SLC35A2c.769G>C (p.Ala257Pro)
c.355-248G>C (n.355-248G>C)
c.427-248G>C (n.427-248G>C)
c.331G>C
c.853G>C (p.Ala285Pro)
c.808G>C (p.Ala270Pro)
c.424+1252G>C
c.586G>C (p.Ala196Pro)
c.*663G>C (n.*663G>C)
Xg.48905140C>TCA412895258SLC35A2c.769G>A (p.Ala257Thr)
c.355-248G>A (n.355-248G>A)
c.427-248G>A (n.427-248G>A)
c.331G>A
c.853G>A (p.Ala285Thr)
c.808G>A (p.Ala270Thr)
c.424+1252G>A
c.586G>A (p.Ala196Thr)
c.*663G>A (n.*663G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.48905141G>ACA10406099SLC35A2c.768C>T (p.Thr256=)
c.355-249C>T (n.355-249C>T)
c.427-249C>T (n.427-249C>T)
c.330C>T
c.852C>T (p.Thr284=)
c.807C>T (p.Thr269=)
c.424+1251C>T
c.585C>T (p.Thr195=)
c.*662C>T (n.*662C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905141G>CCA516360111SLC35A2c.768C>G (p.Thr256=)
c.355-249C>G (n.355-249C>G)
c.427-249C>G (n.427-249C>G)
c.330C>G
c.852C>G (p.Thr284=)
c.807C>G (p.Thr269=)
c.424+1251C>G
c.585C>G (p.Thr195=)
c.*662C>G (n.*662C>G)
Xg.48905141G=CA2428428885SLC35A2c.768C= (p.Thr256=)
c.355-249C= (n.355-249C=)
c.427-249C= (n.427-249C=)
c.330C=
c.852C= (p.Thr284=)
c.807C= (p.Thr269=)
c.424+1251C=
c.585C= (p.Thr195=)
c.*662C= (n.*662C=)
Xg.48905141G>TCA516360113SLC35A2c.768C>A (p.Thr256=)
c.355-249C>A (n.355-249C>A)
c.427-249C>A (n.427-249C>A)
c.330C>A
c.852C>A (p.Thr284=)
c.807C>A (p.Thr269=)
c.424+1251C>A
c.585C>A (p.Thr195=)
c.*662C>A (n.*662C>A)
Xg.48905142G>ACA412895261SLC35A2c.767C>T (p.Thr256Ile)
c.355-250C>T (n.355-250C>T)
c.427-250C>T (n.427-250C>T)
c.329C>T
c.851C>T (p.Thr284Ile)
c.806C>T (p.Thr269Ile)
c.424+1250C>T
c.584C>T (p.Thr195Ile)
c.*661C>T (n.*661C>T)
Xg.48905142G>CCA412895260SLC35A2c.767C>G (p.Thr256Ser)
c.355-250C>G (n.355-250C>G)
c.427-250C>G (n.427-250C>G)
c.329C>G
c.851C>G (p.Thr284Ser)
c.806C>G (p.Thr269Ser)
c.424+1250C>G
c.584C>G (p.Thr195Ser)
c.*661C>G (n.*661C>G)
Xg.48905142G>TCA412895259SLC35A2c.767C>A (p.Thr256Asn)
c.355-250C>A (n.355-250C>A)
c.427-250C>A (n.427-250C>A)
c.329C>A
c.851C>A (p.Thr284Asn)
c.806C>A (p.Thr269Asn)
c.424+1250C>A
c.584C>A (p.Thr195Asn)
c.*661C>A (n.*661C>A)
Xg.48905143T>ACA412895262SLC35A2c.766A>T (p.Thr256Ser)
c.355-251A>T (n.355-251A>T)
c.427-251A>T (n.427-251A>T)
c.328A>T
c.850A>T (p.Thr284Ser)
c.805A>T (p.Thr269Ser)
c.424+1249A>T
c.583A>T (p.Thr195Ser)
c.*660A>T (n.*660A>T)
Xg.48905143T>CCA412895263SLC35A2c.766A>G (p.Thr256Ala)
c.355-251A>G (n.355-251A>G)
c.427-251A>G (n.427-251A>G)
c.328A>G
c.850A>G (p.Thr284Ala)
c.805A>G (p.Thr269Ala)
c.424+1249A>G
c.583A>G (p.Thr195Ala)
c.*660A>G (n.*660A>G)
Xg.48905143T>GCA412895264SLC35A2c.766A>C (p.Thr256Pro)
c.355-251A>C (n.355-251A>C)
c.427-251A>C (n.427-251A>C)
c.328A>C
c.850A>C (p.Thr284Pro)
c.805A>C (p.Thr269Pro)
c.424+1249A>C
c.583A>C (p.Thr195Pro)
c.*660A>C (n.*660A>C)
Xg.48905144A>CCA516360117SLC35A2c.765T>G (p.Gly255=)
c.355-252T>G (n.355-252T>G)
c.427-252T>G (n.427-252T>G)
c.327T>G
c.849T>G (p.Gly283=)
c.804T>G (p.Gly268=)
c.424+1248T>G
c.582T>G (p.Gly194=)
c.*659T>G (n.*659T>G)
Xg.48905144A>GCA516360119SLC35A2c.765T>C (p.Gly255=)
c.355-252T>C (n.355-252T>C)
c.427-252T>C (n.427-252T>C)
c.327T>C
c.849T>C (p.Gly283=)
c.804T>C (p.Gly268=)
c.424+1248T>C
c.582T>C (p.Gly194=)
c.*659T>C (n.*659T>C)
Xg.48905144A>TCA516360122SLC35A2c.765T>A (p.Gly255=)
c.355-252T>A (n.355-252T>A)
c.427-252T>A (n.427-252T>A)
c.327T>A
c.849T>A (p.Gly283=)
c.804T>A (p.Gly268=)
c.424+1248T>A
c.582T>A (p.Gly194=)
c.*659T>A (n.*659T>A)
Xg.48905145C>ACA412895265SLC35A2c.764G>T (p.Gly255Val)
c.355-253G>T (n.355-253G>T)
c.427-253G>T (n.427-253G>T)
c.326G>T
c.848G>T (p.Gly283Val)
c.803G>T (p.Gly268Val)
c.424+1247G>T
c.581G>T (p.Gly194Val)
c.*658G>T (n.*658G>T)
Xg.48905145C>GCA412895266SLC35A2c.764G>C (p.Gly255Ala)
c.355-253G>C (n.355-253G>C)
c.427-253G>C (n.427-253G>C)
c.326G>C
c.848G>C (p.Gly283Ala)
c.803G>C (p.Gly268Ala)
c.424+1247G>C
c.581G>C (p.Gly194Ala)
c.*658G>C (n.*658G>C)
Xg.48905145C>TCA412895267SLC35A2c.764G>A (p.Gly255Asp)
c.355-253G>A (n.355-253G>A)
c.427-253G>A (n.427-253G>A)
c.326G>A
c.848G>A (p.Gly283Asp)
c.803G>A (p.Gly268Asp)
c.424+1247G>A
c.581G>A (p.Gly194Asp)
c.*658G>A (n.*658G>A)
Xg.48905146C>ACA412895268SLC35A2c.763G>T (p.Gly255Cys)
c.355-254G>T (n.355-254G>T)
c.427-254G>T (n.427-254G>T)
c.325G>T
c.847G>T (p.Gly283Cys)
c.802G>T (p.Gly268Cys)
c.424+1246G>T
c.580G>T (p.Gly194Cys)
c.*657G>T (n.*657G>T)
Xg.48905146C>GCA412895269SLC35A2c.763G>C (p.Gly255Arg)
c.355-254G>C (n.355-254G>C)
c.427-254G>C (n.427-254G>C)
c.325G>C
c.847G>C (p.Gly283Arg)
c.802G>C (p.Gly268Arg)
c.424+1246G>C
c.580G>C (p.Gly194Arg)
c.*657G>C (n.*657G>C)
Xg.48905146C>TCA412895270SLC35A2c.763G>A (p.Gly255Ser)
c.355-254G>A (n.355-254G>A)
c.427-254G>A (n.427-254G>A)
c.325G>A
c.847G>A (p.Gly283Ser)
c.802G>A (p.Gly268Ser)
c.424+1246G>A
c.580G>A (p.Gly194Ser)
c.*657G>A (n.*657G>A)
Xg.48905147C>ACA412895271SLC35A2c.762G>T (p.Glu254Asp)
c.355-255G>T (n.355-255G>T)
c.427-255G>T (n.427-255G>T)
c.324G>T
c.846G>T (p.Glu282Asp)
c.801G>T (p.Glu267Asp)
c.424+1245G>T
c.579G>T (p.Glu193Asp)
c.*656G>T (n.*656G>T)
Xg.48905147C>GCA412895272SLC35A2c.762G>C (p.Glu254Asp)
c.355-255G>C (n.355-255G>C)
c.427-255G>C (n.427-255G>C)
c.324G>C
c.846G>C (p.Glu282Asp)
c.801G>C (p.Glu267Asp)
c.424+1245G>C
c.579G>C (p.Glu193Asp)
c.*656G>C (n.*656G>C)
Xg.48905147C>TCA516360130SLC35A2c.762G>A (p.Glu254=)
c.355-255G>A (n.355-255G>A)
c.427-255G>A (n.427-255G>A)
c.324G>A
c.846G>A (p.Glu282=)
c.801G>A (p.Glu267=)
c.424+1245G>A
c.579G>A (p.Glu193=)
c.*656G>A (n.*656G>A)
Xg.48905148T>ACA412895275SLC35A2c.761A>T (p.Glu254Val)
c.355-256A>T (n.355-256A>T)
c.427-256A>T (n.427-256A>T)
c.323A>T
c.845A>T (p.Glu282Val)
c.800A>T (p.Glu267Val)
c.424+1244A>T
c.578A>T (p.Glu193Val)
c.*655A>T (n.*655A>T)
Xg.48905148T>CCA412895274SLC35A2c.761A>G (p.Glu254Gly)
c.355-256A>G (n.355-256A>G)
c.427-256A>G (n.427-256A>G)
c.323A>G
c.845A>G (p.Glu282Gly)
c.800A>G (p.Glu267Gly)
c.424+1244A>G
c.578A>G (p.Glu193Gly)
c.*655A>G (n.*655A>G)
Xg.48905148T>GCA412895273SLC35A2c.761A>C (p.Glu254Ala)
c.355-256A>C (n.355-256A>C)
c.427-256A>C (n.427-256A>C)
c.323A>C
c.845A>C (p.Glu282Ala)
c.800A>C (p.Glu267Ala)
c.424+1244A>C
c.578A>C (p.Glu193Ala)
c.*655A>C (n.*655A>C)
Xg.48905149C>ACA412895276SLC35A2c.760G>T (p.Glu254Ter)
c.355-257G>T (n.355-257G>T)
c.427-257G>T (n.427-257G>T)
c.322G>T
c.844G>T (p.Glu282Ter)
c.799G>T (p.Glu267Ter)
c.424+1243G>T
c.577G>T (p.Glu193Ter)
c.*654G>T (n.*654G>T)
Xg.48905149C>GCA412895277SLC35A2c.760G>C (p.Glu254Gln)
c.355-257G>C (n.355-257G>C)
c.427-257G>C (n.427-257G>C)
c.322G>C
c.844G>C (p.Glu282Gln)
c.799G>C (p.Glu267Gln)
c.424+1243G>C
c.577G>C (p.Glu193Gln)
c.*654G>C (n.*654G>C)
Xg.48905149C>TCA412895278SLC35A2c.760G>A (p.Glu254Lys)
c.355-257G>A (n.355-257G>A)
c.427-257G>A (n.427-257G>A)
c.322G>A
c.844G>A (p.Glu282Lys)
c.799G>A (p.Glu267Lys)
c.424+1243G>A
c.577G>A (p.Glu193Lys)
c.*654G>A (n.*654G>A)
Xg.48905150A>CCA516360139SLC35A2c.759T>G (p.Ala253=)
c.355-258T>G (n.355-258T>G)
c.427-258T>G (n.427-258T>G)
c.321T>G
c.843T>G (p.Ala281=)
c.798T>G (p.Ala266=)
c.424+1242T>G
c.576T>G (p.Ala192=)
c.*653T>G (n.*653T>G)
Xg.48905150A>GCA516360140SLC35A2c.759T>C (p.Ala253=)
c.355-258T>C (n.355-258T>C)
c.427-258T>C (n.427-258T>C)
c.321T>C
c.843T>C (p.Ala281=)
c.798T>C (p.Ala266=)
c.424+1242T>C
c.576T>C (p.Ala192=)
c.*653T>C (n.*653T>C)
Xg.48905150A>TCA516360141SLC35A2c.759T>A (p.Ala253=)
c.355-258T>A (n.355-258T>A)
c.427-258T>A (n.427-258T>A)
c.321T>A
c.843T>A (p.Ala281=)
c.798T>A (p.Ala266=)
c.424+1242T>A
c.576T>A (p.Ala192=)
c.*653T>A (n.*653T>A)
 ClinVar
Xg.48905151G>ACA412895279SLC35A2c.758C>T (p.Ala253Val)
c.355-259C>T (n.355-259C>T)
c.427-259C>T (n.427-259C>T)
c.320C>T
c.842C>T (p.Ala281Val)
c.797C>T (p.Ala266Val)
c.424+1241C>T
c.575C>T (p.Ala192Val)
c.*652C>T (n.*652C>T)
Xg.48905151G>CCA412895280SLC35A2c.758C>G (p.Ala253Gly)
c.355-259C>G (n.355-259C>G)
c.427-259C>G (n.427-259C>G)
c.320C>G
c.842C>G (p.Ala281Gly)
c.797C>G (p.Ala266Gly)
c.424+1241C>G
c.575C>G (p.Ala192Gly)
c.*652C>G (n.*652C>G)
Xg.48905151G>TCA412895281SLC35A2c.758C>A (p.Ala253Asp)
c.355-259C>A (n.355-259C>A)
c.427-259C>A (n.427-259C>A)
c.320C>A
c.842C>A (p.Ala281Asp)
c.797C>A (p.Ala266Asp)
c.424+1241C>A
c.575C>A (p.Ala192Asp)
c.*652C>A (n.*652C>A)
Xg.48905152C>ACA412895282SLC35A2c.757G>T (p.Ala253Ser)
c.355-260G>T (n.355-260G>T)
c.427-260G>T (n.427-260G>T)
c.319G>T
c.841G>T (p.Ala281Ser)
c.796G>T (p.Ala266Ser)
c.424+1240G>T
c.574G>T (p.Ala192Ser)
c.*651G>T (n.*651G>T)
Xg.48905152C>GCA412895283SLC35A2c.757G>C (p.Ala253Pro)
c.355-260G>C (n.355-260G>C)
c.427-260G>C (n.427-260G>C)
c.319G>C
c.841G>C (p.Ala281Pro)
c.796G>C (p.Ala266Pro)
c.424+1240G>C
c.574G>C (p.Ala192Pro)
c.*651G>C (n.*651G>C)
Xg.48905152C>TCA412895284SLC35A2c.757G>A (p.Ala253Thr)
c.355-260G>A (n.355-260G>A)
c.427-260G>A (n.427-260G>A)
c.319G>A
c.841G>A (p.Ala281Thr)
c.796G>A (p.Ala266Thr)
c.424+1240G>A
c.574G>A (p.Ala192Thr)
c.*651G>A (n.*651G>A)
 ClinVar gnomAD v4
Xg.48905160_48905170dupCA2573158995SLC35A2c.747_757dup (p.Ala253GlyfsTer?)
c.355-270_355-260dup (n.355-270_355-260dup)
c.427-270_427-260dup (n.427-270_427-260dup)
c.309_319dup
c.831_841dup (p.Ala281GlyfsTer?)
c.786_796dup (p.Ala266GlyfsTer?)
c.424+1230_424+1240dup
c.564_574dup (p.Ala192GlyfsTer?)
c.*641_*651dup (n.*641_*651dup)
 ClinVar dbSNP
Xg.48905153C>ACA412895285SLC35A2c.756G>T (p.Trp252Cys)
c.355-261G>T (n.355-261G>T)
c.427-261G>T (n.427-261G>T)
c.318G>T
c.840G>T (p.Trp280Cys)
c.795G>T (p.Trp265Cys)
c.424+1239G>T
c.573G>T (p.Trp191Cys)
c.*650G>T (n.*650G>T)
 COSMIC
Xg.48905153C>GCA412895286SLC35A2c.756G>C (p.Trp252Cys)
c.355-261G>C (n.355-261G>C)
c.427-261G>C (n.427-261G>C)
c.318G>C
c.840G>C (p.Trp280Cys)
c.795G>C (p.Trp265Cys)
c.424+1239G>C
c.573G>C (p.Trp191Cys)
c.*650G>C (n.*650G>C)
Xg.48905153C>TCA412895287SLC35A2c.756G>A (p.Trp252Ter)
c.355-261G>A (n.355-261G>A)
c.427-261G>A (n.427-261G>A)
c.318G>A
c.840G>A (p.Trp280Ter)
c.795G>A (p.Trp265Ter)
c.424+1239G>A
c.573G>A (p.Trp191Ter)
c.*650G>A (n.*650G>A)
Xg.48905154C>ACA412895290SLC35A2c.755G>T (p.Trp252Leu)
c.355-262G>T (n.355-262G>T)
c.427-262G>T (n.427-262G>T)
c.317G>T
c.839G>T (p.Trp280Leu)
c.794G>T (p.Trp265Leu)
c.424+1238G>T
c.572G>T (p.Trp191Leu)
c.*649G>T (n.*649G>T)
Xg.48905154C>GCA412895288SLC35A2c.755G>C (p.Trp252Ser)
c.355-262G>C (n.355-262G>C)
c.427-262G>C (n.427-262G>C)
c.317G>C
c.839G>C (p.Trp280Ser)
c.794G>C (p.Trp265Ser)
c.424+1238G>C
c.572G>C (p.Trp191Ser)
c.*649G>C (n.*649G>C)
Xg.48905154C>TCA412895289SLC35A2c.755G>A (p.Trp252Ter)
c.355-262G>A (n.355-262G>A)
c.427-262G>A (n.427-262G>A)
c.317G>A
c.839G>A (p.Trp280Ter)
c.794G>A (p.Trp265Ter)
c.424+1238G>A
c.572G>A (p.Trp191Ter)
c.*649G>A (n.*649G>A)
 ClinVar
Xg.48905155A>CCA412895291SLC35A2c.754T>G (p.Trp252Gly)
c.355-263T>G (n.355-263T>G)
c.427-263T>G (n.427-263T>G)
c.316T>G
c.838T>G (p.Trp280Gly)
c.793T>G (p.Trp265Gly)
c.424+1237T>G
c.571T>G (p.Trp191Gly)
c.*648T>G (n.*648T>G)
Xg.48905155A>GCA412895292SLC35A2c.754T>C (p.Trp252Arg)
c.355-263T>C (n.355-263T>C)
c.427-263T>C (n.427-263T>C)
c.316T>C
c.838T>C (p.Trp280Arg)
c.793T>C (p.Trp265Arg)
c.424+1237T>C
c.571T>C (p.Trp191Arg)
c.*648T>C (n.*648T>C)
Xg.48905155A>TCA412895293SLC35A2c.754T>A (p.Trp252Arg)
c.355-263T>A (n.355-263T>A)
c.427-263T>A (n.427-263T>A)
c.316T>A
c.838T>A (p.Trp280Arg)
c.793T>A (p.Trp265Arg)
c.424+1237T>A
c.571T>A (p.Trp191Arg)
c.*648T>A (n.*648T>A)
Xg.48905156C>ACA412895294SLC35A2c.753G>T (p.Trp251Cys)
c.355-264G>T (n.355-264G>T)
c.427-264G>T (n.427-264G>T)
c.315G>T
c.837G>T (p.Trp279Cys)
c.792G>T (p.Trp264Cys)
c.424+1236G>T
c.570G>T (p.Trp190Cys)
c.*647G>T (n.*647G>T)
Xg.48905156C>GCA412895295SLC35A2c.753G>C (p.Trp251Cys)
c.355-264G>C (n.355-264G>C)
c.427-264G>C (n.427-264G>C)
c.315G>C
c.837G>C (p.Trp279Cys)
c.792G>C (p.Trp264Cys)
c.424+1236G>C
c.570G>C (p.Trp190Cys)
c.*647G>C (n.*647G>C)
Xg.48905156C>TCA412895296SLC35A2c.753G>A (p.Trp251Ter)
c.355-264G>A (n.355-264G>A)
c.427-264G>A (n.427-264G>A)
c.315G>A
c.837G>A (p.Trp279Ter)
c.792G>A (p.Trp264Ter)
c.424+1236G>A
c.570G>A (p.Trp190Ter)
c.*647G>A (n.*647G>A)
Xg.48905157delCA2695233838SLC35A2c.753del (p.Trp251CysfsTer?)
c.355-264del (n.355-264del)
c.427-264del (n.427-264del)
c.315del
c.837del (p.Trp279CysfsTer?)
c.792del (p.Trp264CysfsTer?)
c.424+1236del
c.570del (p.Trp190CysfsTer?)
c.*647del (n.*647del)
Xg.48905157C>ACA412895297SLC35A2c.752G>T (p.Trp251Leu)
c.355-265G>T (n.355-265G>T)
c.427-265G>T (n.427-265G>T)
c.314G>T
c.836G>T (p.Trp279Leu)
c.791G>T (p.Trp264Leu)
c.424+1235G>T
c.569G>T (p.Trp190Leu)
c.*646G>T (n.*646G>T)
Xg.48905157C>GCA412895298SLC35A2c.752G>C (p.Trp251Ser)
c.355-265G>C (n.355-265G>C)
c.427-265G>C (n.427-265G>C)
c.314G>C
c.836G>C (p.Trp279Ser)
c.791G>C (p.Trp264Ser)
c.424+1235G>C
c.569G>C (p.Trp190Ser)
c.*646G>C (n.*646G>C)
Xg.48905157C>TCA412895299SLC35A2c.752G>A (p.Trp251Ter)
c.355-265G>A (n.355-265G>A)
c.427-265G>A (n.427-265G>A)
c.314G>A
c.836G>A (p.Trp279Ter)
c.791G>A (p.Trp264Ter)
c.424+1235G>A
c.569G>A (p.Trp190Ter)
c.*646G>A (n.*646G>A)
Xg.48905158A=CA2428428886SLC35A2c.751T= (p.Trp251=)
c.355-266T= (n.355-266T=)
c.427-266T= (n.427-266T=)
c.313T=
c.835T= (p.Trp279=)
c.790T= (p.Trp264=)
c.424+1234T=
c.568T= (p.Trp190=)
c.*645T= (n.*645T=)
Xg.48905158A>CCA412895300SLC35A2c.751T>G (p.Trp251Gly)
c.355-266T>G (n.355-266T>G)
c.427-266T>G (n.427-266T>G)
c.313T>G
c.835T>G (p.Trp279Gly)
c.790T>G (p.Trp264Gly)
c.424+1234T>G
c.568T>G (p.Trp190Gly)
c.*645T>G (n.*645T>G)
 dbSNP
Xg.48905158A>GCA412895301SLC35A2c.751T>C (p.Trp251Arg)
c.355-266T>C (n.355-266T>C)
c.427-266T>C (n.427-266T>C)
c.313T>C
c.835T>C (p.Trp279Arg)
c.790T>C (p.Trp264Arg)
c.424+1234T>C
c.568T>C (p.Trp190Arg)
c.*645T>C (n.*645T>C)
 gnomAD v4
Xg.48905158A>TCA412895302SLC35A2c.751T>A (p.Trp251Arg)
c.355-266T>A (n.355-266T>A)
c.427-266T>A (n.427-266T>A)
c.313T>A
c.835T>A (p.Trp279Arg)
c.790T>A (p.Trp264Arg)
c.424+1234T>A
c.568T>A (p.Trp190Arg)
c.*645T>A (n.*645T>A)
Xg.48905159G>ACA516360162SLC35A2c.750C>T (p.Leu250=)
c.355-267C>T (n.355-267C>T)
c.427-267C>T (n.427-267C>T)
c.312C>T
c.834C>T (p.Leu278=)
c.789C>T (p.Leu263=)
c.424+1233C>T
c.567C>T (p.Leu189=)
c.*644C>T (n.*644C>T)
Xg.48905159G>CCA10406100SLC35A2c.750C>G (p.Leu250=)
c.355-267C>G (n.355-267C>G)
c.427-267C>G (n.427-267C>G)
c.312C>G
c.834C>G (p.Leu278=)
c.789C>G (p.Leu263=)
c.424+1233C>G
c.567C>G (p.Leu189=)
c.*644C>G (n.*644C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.48905159G=CA2428428887SLC35A2c.750C= (p.Leu250=)
c.355-267C= (n.355-267C=)
c.427-267C= (n.427-267C=)
c.312C=
c.834C= (p.Leu278=)
c.789C= (p.Leu263=)
c.424+1233C=
c.567C= (p.Leu189=)
c.*644C= (n.*644C=)
Xg.48905159G>TCA516360163SLC35A2c.750C>A (p.Leu250=)
c.355-267C>A (n.355-267C>A)
c.427-267C>A (n.427-267C>A)
c.312C>A
c.834C>A (p.Leu278=)
c.789C>A (p.Leu263=)
c.424+1233C>A
c.567C>A (p.Leu189=)
c.*644C>A (n.*644C>A)
Xg.48905160A>CCA412895305SLC35A2c.749T>G (p.Leu250Arg)
c.355-268T>G (n.355-268T>G)
c.427-268T>G (n.427-268T>G)
c.311T>G
c.833T>G (p.Leu278Arg)
c.788T>G (p.Leu263Arg)
c.424+1232T>G
c.566T>G (p.Leu189Arg)
c.*643T>G (n.*643T>G)
Xg.48905160A>GCA412895303SLC35A2c.749T>C (p.Leu250Pro)
c.355-268T>C (n.355-268T>C)
c.427-268T>C (n.427-268T>C)
c.311T>C
c.833T>C (p.Leu278Pro)
c.788T>C (p.Leu263Pro)
c.424+1232T>C
c.566T>C (p.Leu189Pro)
c.*643T>C (n.*643T>C)
Xg.48905160A>TCA412895304SLC35A2c.749T>A (p.Leu250His)
c.355-268T>A (n.355-268T>A)
c.427-268T>A (n.427-268T>A)
c.311T>A
c.833T>A (p.Leu278His)
c.788T>A (p.Leu263His)
c.424+1232T>A
c.566T>A (p.Leu189His)
c.*643T>A (n.*643T>A)
Xg.48905161G>ACA412895306SLC35A2c.748C>T (p.Leu250Phe)
c.355-269C>T (n.355-269C>T)
c.427-269C>T (n.427-269C>T)
c.310C>T
c.832C>T (p.Leu278Phe)
c.787C>T (p.Leu263Phe)
c.424+1231C>T
c.565C>T (p.Leu189Phe)
c.*642C>T (n.*642C>T)
 gnomAD v4
Xg.48905161G>CCA412895307SLC35A2c.748C>G (p.Leu250Val)
c.355-269C>G (n.355-269C>G)
c.427-269C>G (n.427-269C>G)
c.310C>G
c.832C>G (p.Leu278Val)
c.787C>G (p.Leu263Val)
c.424+1231C>G
c.565C>G (p.Leu189Val)
c.*642C>G (n.*642C>G)
Xg.48905161G>TCA412895308SLC35A2c.748C>A (p.Leu250Ile)
c.355-269C>A (n.355-269C>A)
c.427-269C>A (n.427-269C>A)
c.310C>A
c.832C>A (p.Leu278Ile)
c.787C>A (p.Leu263Ile)
c.424+1231C>A
c.565C>A (p.Leu189Ile)
c.*642C>A (n.*642C>A)
Xg.48905162C>ACA10406101SLC35A2c.747G>T (p.Gly249=)
c.355-270G>T (n.355-270G>T)
c.427-270G>T (n.427-270G>T)
c.309G>T
c.831G>T (p.Gly277=)
c.786G>T (p.Gly262=)
c.424+1230G>T
c.564G>T (p.Gly188=)
c.*641G>T (n.*641G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905162C=CA2428428888SLC35A2c.747G= (p.Gly249=)
c.355-270G= (n.355-270G=)
c.427-270G= (n.427-270G=)
c.309G=
c.831G= (p.Gly277=)
c.786G= (p.Gly262=)
c.424+1230G=
c.564G= (p.Gly188=)
c.*641G= (n.*641G=)
Xg.48905162C>GCA516360172SLC35A2c.747G>C (p.Gly249=)
c.355-270G>C (n.355-270G>C)
c.427-270G>C (n.427-270G>C)
c.309G>C
c.831G>C (p.Gly277=)
c.786G>C (p.Gly262=)
c.424+1230G>C
c.564G>C (p.Gly188=)
c.*641G>C (n.*641G>C)
Xg.48905162C>TCA10406102SLC35A2c.747G>A (p.Gly249=)
c.355-270G>A (n.355-270G>A)
c.427-270G>A (n.427-270G>A)
c.309G>A
c.831G>A (p.Gly277=)
c.786G>A (p.Gly262=)
c.424+1230G>A
c.564G>A (p.Gly188=)
c.*641G>A (n.*641G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905163C>ACA412895309SLC35A2c.746G>T (p.Gly249Val)
c.355-271G>T (n.355-271G>T)
c.427-271G>T (n.427-271G>T)
c.308G>T
c.830G>T (p.Gly277Val)
c.785G>T (p.Gly262Val)
c.424+1229G>T
c.563G>T (p.Gly188Val)
c.*640G>T (n.*640G>T)
Xg.48905163C>GCA412895310SLC35A2c.746G>C (p.Gly249Ala)
c.355-271G>C (n.355-271G>C)
c.427-271G>C (n.427-271G>C)
c.308G>C
c.830G>C (p.Gly277Ala)
c.785G>C (p.Gly262Ala)
c.424+1229G>C
c.563G>C (p.Gly188Ala)
c.*640G>C (n.*640G>C)
Xg.48905163C>TCA412895311SLC35A2c.746G>A (p.Gly249Glu)
c.355-271G>A (n.355-271G>A)
c.427-271G>A (n.427-271G>A)
c.308G>A
c.830G>A (p.Gly277Glu)
c.785G>A (p.Gly262Glu)
c.424+1229G>A
c.563G>A (p.Gly188Glu)
c.*640G>A (n.*640G>A)
Xg.48905164C>ACA412895312SLC35A2c.745G>T (p.Gly249Trp)
c.355-272G>T (n.355-272G>T)
c.427-272G>T (n.427-272G>T)
c.307G>T
c.829G>T (p.Gly277Trp)
c.784G>T (p.Gly262Trp)
c.424+1228G>T
c.562G>T (p.Gly188Trp)
c.*639G>T (n.*639G>T)
Xg.48905164C>GCA412895313SLC35A2c.745G>C (p.Gly249Arg)
c.355-272G>C (n.355-272G>C)
c.427-272G>C (n.427-272G>C)
c.307G>C
c.829G>C (p.Gly277Arg)
c.784G>C (p.Gly262Arg)
c.424+1228G>C
c.562G>C (p.Gly188Arg)
c.*639G>C (n.*639G>C)
Xg.48905164C>TCA412895314SLC35A2c.745G>A (p.Gly249Arg)
c.355-272G>A (n.355-272G>A)
c.427-272G>A (n.427-272G>A)
c.307G>A
c.829G>A (p.Gly277Arg)
c.784G>A (p.Gly262Arg)
c.424+1228G>A
c.562G>A (p.Gly188Arg)
c.*639G>A (n.*639G>A)
Xg.48905165C>ACA516360180SLC35A2c.744G>T (p.Val248=)
c.355-273G>T (n.355-273G>T)
c.427-273G>T (n.427-273G>T)
c.306G>T
c.828G>T (p.Val276=)
c.783G>T (p.Val261=)
c.424+1227G>T
c.561G>T (p.Val187=)
c.*638G>T (n.*638G>T)
Xg.48905165C>GCA516360181SLC35A2c.744G>C (p.Val248=)
c.355-273G>C (n.355-273G>C)
c.427-273G>C (n.427-273G>C)
c.306G>C
c.828G>C (p.Val276=)
c.783G>C (p.Val261=)
c.424+1227G>C
c.561G>C (p.Val187=)
c.*638G>C (n.*638G>C)
Xg.48905165C>TCA516360182SLC35A2c.744G>A (p.Val248=)
c.355-273G>A (n.355-273G>A)
c.427-273G>A (n.427-273G>A)
c.306G>A
c.828G>A (p.Val276=)
c.783G>A (p.Val261=)
c.424+1227G>A
c.561G>A (p.Val187=)
c.*638G>A (n.*638G>A)
Xg.48905166A>CCA412895317SLC35A2c.743T>G (p.Val248Gly)
c.355-274T>G (n.355-274T>G)
c.427-274T>G (n.427-274T>G)
c.305T>G
c.527T>G
c.827T>G (p.Val276Gly)
c.782T>G (p.Val261Gly)
c.424+1226T>G
c.560T>G (p.Val187Gly)
c.*637T>G (n.*637T>G)
Xg.48905166A>GCA412895316SLC35A2c.743T>C (p.Val248Ala)
c.355-274T>C (n.355-274T>C)
c.427-274T>C (n.427-274T>C)
c.305T>C
c.527T>C
c.827T>C (p.Val276Ala)
c.782T>C (p.Val261Ala)
c.424+1226T>C
c.560T>C (p.Val187Ala)
c.*637T>C (n.*637T>C)
Xg.48905166A>TCA412895315SLC35A2c.743T>A (p.Val248Glu)
c.355-274T>A (n.355-274T>A)
c.427-274T>A (n.427-274T>A)
c.305T>A
c.527T>A
c.827T>A (p.Val276Glu)
c.782T>A (p.Val261Glu)
c.424+1226T>A
c.560T>A (p.Val187Glu)
c.*637T>A (n.*637T>A)
Xg.48905167C>ACA412895318SLC35A2c.742G>T (p.Val248Leu)
c.355-275G>T (n.355-275G>T)
c.427-275G>T (n.427-275G>T)
c.304G>T
c.526G>T
c.826G>T (p.Val276Leu)
c.781G>T (p.Val261Leu)
c.424+1225G>T
c.559G>T (p.Val187Leu)
c.*636G>T (n.*636G>T)
Xg.48905167C>GCA412895319SLC35A2c.742G>C (p.Val248Leu)
c.355-275G>C (n.355-275G>C)
c.427-275G>C (n.427-275G>C)
c.304G>C
c.526G>C
c.826G>C (p.Val276Leu)
c.781G>C (p.Val261Leu)
c.424+1225G>C
c.559G>C (p.Val187Leu)
c.*636G>C (n.*636G>C)
Xg.48905167C>TCA412895320SLC35A2c.742G>A (p.Val248Met)
c.355-275G>A (n.355-275G>A)
c.427-275G>A (n.427-275G>A)
c.304G>A
c.526G>A
c.826G>A (p.Val276Met)
c.781G>A (p.Val261Met)
c.424+1225G>A
c.559G>A (p.Val187Met)
c.*636G>A (n.*636G>A)
Xg.48905168C>ACA516359987SLC35A2c.741G>T (p.Leu247=)
c.355-276G>T (n.355-276G>T)
c.427-276G>T (n.427-276G>T)
c.303G>T
c.525G>T (p.Leu175=)
c.825G>T (p.Leu275=)
c.780G>T (p.Leu260=)
c.424+1224G>T
c.558G>T (p.Leu186=)
c.*635G>T (n.*635G>T)
Xg.48905168C>GCA516359988SLC35A2c.741G>C (p.Leu247=)
c.355-276G>C (n.355-276G>C)
c.427-276G>C (n.427-276G>C)
c.303G>C
c.525G>C (p.Leu175=)
c.825G>C (p.Leu275=)
c.780G>C (p.Leu260=)
c.424+1224G>C
c.558G>C (p.Leu186=)
c.*635G>C (n.*635G>C)
Xg.48905168C>TCA516359989SLC35A2c.741G>A (p.Leu247=)
c.355-276G>A (n.355-276G>A)
c.427-276G>A (n.427-276G>A)
c.303G>A
c.525G>A (p.Leu175=)
c.825G>A (p.Leu275=)
c.780G>A (p.Leu260=)
c.424+1224G>A
c.558G>A (p.Leu186=)
c.*635G>A (n.*635G>A)
Xg.48905169A>CCA412895321SLC35A2c.740T>G (p.Leu247Arg)
c.355-277T>G (n.355-277T>G)
c.427-277T>G (n.427-277T>G)
c.302T>G
c.524T>G (p.Leu175Arg)
c.824T>G (p.Leu275Arg)
c.779T>G (p.Leu260Arg)
c.424+1223T>G
c.557T>G (p.Leu186Arg)
c.*634T>G (n.*634T>G)
Xg.48905169A>GCA412895322SLC35A2c.740T>C (p.Leu247Pro)
c.355-277T>C (n.355-277T>C)
c.427-277T>C (n.427-277T>C)
c.302T>C
c.524T>C (p.Leu175Pro)
c.824T>C (p.Leu275Pro)
c.779T>C (p.Leu260Pro)
c.424+1223T>C
c.557T>C (p.Leu186Pro)
c.*634T>C (n.*634T>C)
Xg.48905169A>TCA412895323SLC35A2c.740T>A (p.Leu247Gln)
c.355-277T>A (n.355-277T>A)
c.427-277T>A (n.427-277T>A)
c.302T>A
c.524T>A (p.Leu175Gln)
c.824T>A (p.Leu275Gln)
c.779T>A (p.Leu260Gln)
c.424+1223T>A
c.557T>A (p.Leu186Gln)
c.*634T>A (n.*634T>A)
Xg.48905170G>ACA516359992SLC35A2c.739C>T (p.Leu247=)
c.355-278C>T (n.355-278C>T)
c.427-278C>T (n.427-278C>T)
c.301C>T
c.523C>T (p.Leu175=)
c.823C>T (p.Leu275=)
c.778C>T (p.Leu260=)
c.424+1222C>T
c.556C>T (p.Leu186=)
c.*633C>T (n.*633C>T)
Xg.48905170G>CCA412895324SLC35A2c.739C>G (p.Leu247Val)
c.355-278C>G (n.355-278C>G)
c.427-278C>G (n.427-278C>G)
c.301C>G
c.523C>G (p.Leu175Val)
c.823C>G (p.Leu275Val)
c.778C>G (p.Leu260Val)
c.424+1222C>G
c.556C>G (p.Leu186Val)
c.*633C>G (n.*633C>G)
Xg.48905170G>TCA412895325SLC35A2c.739C>A (p.Leu247Met)
c.355-278C>A (n.355-278C>A)
c.427-278C>A (n.427-278C>A)
c.301C>A
c.523C>A (p.Leu175Met)
c.823C>A (p.Leu275Met)
c.778C>A (p.Leu260Met)
c.424+1222C>A
c.556C>A (p.Leu186Met)
c.*633C>A (n.*633C>A)
Xg.48905171G>ACA516359993SLC35A2c.738C>T (p.Gly246=)
c.355-279C>T (n.355-279C>T)
c.427-279C>T (n.427-279C>T)
c.300C>T
c.522C>T (p.Gly174=)
c.822C>T (p.Gly274=)
c.777C>T (p.Gly259=)
c.424+1221C>T
c.555C>T (p.Gly185=)
c.*632C>T (n.*632C>T)
Xg.48905171G>CCA516359994SLC35A2c.738C>G (p.Gly246=)
c.355-279C>G (n.355-279C>G)
c.427-279C>G (n.427-279C>G)
c.300C>G
c.522C>G (p.Gly174=)
c.822C>G (p.Gly274=)
c.777C>G (p.Gly259=)
c.424+1221C>G
c.555C>G (p.Gly185=)
c.*632C>G (n.*632C>G)
Xg.48905171G>TCA516359995SLC35A2c.738C>A (p.Gly246=)
c.355-279C>A (n.355-279C>A)
c.427-279C>A (n.427-279C>A)
c.300C>A
c.522C>A (p.Gly174=)
c.822C>A (p.Gly274=)
c.777C>A (p.Gly259=)
c.424+1221C>A
c.555C>A (p.Gly185=)
c.*632C>A (n.*632C>A)
Xg.48905172C>ACA412895326SLC35A2c.737G>T (p.Gly246Val)
c.355-280G>T (n.355-280G>T)
c.427-280G>T (n.427-280G>T)
c.299G>T
c.521G>T (p.Gly174Val)
c.821G>T (p.Gly274Val)
c.776G>T (p.Gly259Val)
c.424+1220G>T
c.554G>T (p.Gly185Val)
c.*631G>T (n.*631G>T)
Xg.48905172C>GCA412895327SLC35A2c.737G>C (p.Gly246Ala)
c.355-280G>C (n.355-280G>C)
c.427-280G>C (n.427-280G>C)
c.299G>C
c.521G>C (p.Gly174Ala)
c.821G>C (p.Gly274Ala)
c.776G>C (p.Gly259Ala)
c.424+1220G>C
c.554G>C (p.Gly185Ala)
c.*631G>C (n.*631G>C)
Xg.48905172C>TCA412895328SLC35A2c.737G>A (p.Gly246Asp)
c.355-280G>A (n.355-280G>A)
c.427-280G>A (n.427-280G>A)
c.299G>A
c.521G>A (p.Gly174Asp)
c.821G>A (p.Gly274Asp)
c.776G>A (p.Gly259Asp)
c.424+1220G>A
c.554G>A (p.Gly185Asp)
c.*631G>A (n.*631G>A)
 gnomAD v4
Xg.48905173C>ACA412895329SLC35A2c.736G>T (p.Gly246Cys)
c.355-281G>T (n.355-281G>T)
c.427-281G>T (n.427-281G>T)
c.298G>T
c.520G>T (p.Gly174Cys)
c.820G>T (p.Gly274Cys)
c.775G>T (p.Gly259Cys)
c.424+1219G>T
c.553G>T (p.Gly185Cys)
c.*630G>T (n.*630G>T)
Xg.48905173C>GCA412895330SLC35A2c.736G>C (p.Gly246Arg)
c.355-281G>C (n.355-281G>C)
c.427-281G>C (n.427-281G>C)
c.298G>C
c.520G>C (p.Gly174Arg)
c.820G>C (p.Gly274Arg)
c.775G>C (p.Gly259Arg)
c.424+1219G>C
c.553G>C (p.Gly185Arg)
c.*630G>C (n.*630G>C)
Xg.48905173C>TCA412895331SLC35A2c.736G>A (p.Gly246Ser)
c.355-281G>A (n.355-281G>A)
c.427-281G>A (n.427-281G>A)
c.298G>A
c.520G>A (p.Gly174Ser)
c.820G>A (p.Gly274Ser)
c.775G>A (p.Gly259Ser)
c.424+1219G>A
c.553G>A (p.Gly185Ser)
c.*630G>A (n.*630G>A)
Xg.48905174C>ACA516359999SLC35A2c.735G>T (p.Leu245=)
c.355-282G>T (n.355-282G>T)
c.427-282G>T (n.427-282G>T)
c.297G>T
c.519G>T (p.Leu173=)
c.819G>T (p.Leu273=)
c.774G>T (p.Leu258=)
c.424+1218G>T
c.552G>T (p.Leu184=)
c.*629G>T (n.*629G>T)
Xg.48905174C>GCA516360001SLC35A2c.735G>C (p.Leu245=)
c.355-282G>C (n.355-282G>C)
c.427-282G>C (n.427-282G>C)
c.297G>C
c.519G>C (p.Leu173=)
c.819G>C (p.Leu273=)
c.774G>C (p.Leu258=)
c.424+1218G>C
c.552G>C (p.Leu184=)
c.*629G>C (n.*629G>C)
Xg.48905174C>TCA516360000SLC35A2c.735G>A (p.Leu245=)
c.355-282G>A (n.355-282G>A)
c.427-282G>A (n.427-282G>A)
c.297G>A
c.519G>A (p.Leu173=)
c.819G>A (p.Leu273=)
c.774G>A (p.Leu258=)
c.424+1218G>A
c.552G>A (p.Leu184=)
c.*629G>A (n.*629G>A)
 gnomAD v4
Xg.48905175A>CCA412895333SLC35A2c.734T>G (p.Leu245Arg)
c.355-283T>G (n.355-283T>G)
c.427-283T>G (n.427-283T>G)
c.296T>G
c.518T>G (p.Leu173Arg)
c.818T>G (p.Leu273Arg)
c.773T>G (p.Leu258Arg)
c.424+1217T>G
c.551T>G (p.Leu184Arg)
c.*628T>G (n.*628T>G)
Xg.48905175A>GCA412895334SLC35A2c.734T>C (p.Leu245Pro)
c.355-283T>C (n.355-283T>C)
c.427-283T>C (n.427-283T>C)
c.296T>C
c.518T>C (p.Leu173Pro)
c.818T>C (p.Leu273Pro)
c.773T>C (p.Leu258Pro)
c.424+1217T>C
c.551T>C (p.Leu184Pro)
c.*628T>C (n.*628T>C)
Xg.48905175A>TCA412895332SLC35A2c.734T>A (p.Leu245Gln)
c.355-283T>A (n.355-283T>A)
c.427-283T>A (n.427-283T>A)
c.296T>A
c.518T>A (p.Leu173Gln)
c.818T>A (p.Leu273Gln)
c.773T>A (p.Leu258Gln)
c.424+1217T>A
c.551T>A (p.Leu184Gln)
c.*628T>A (n.*628T>A)
Xg.48905176G>ACA516360002SLC35A2c.733C>T (p.Leu245=)
c.355-284C>T (n.355-284C>T)
c.427-284C>T (n.427-284C>T)
c.295C>T
c.517C>T (p.Leu173=)
c.817C>T (p.Leu273=)
c.772C>T (p.Leu258=)
c.424+1216C>T
c.550C>T (p.Leu184=)
c.*627C>T (n.*627C>T)
Xg.48905176G>CCA412895335SLC35A2c.733C>G (p.Leu245Val)
c.355-284C>G (n.355-284C>G)
c.427-284C>G (n.427-284C>G)
c.295C>G
c.517C>G (p.Leu173Val)
c.817C>G (p.Leu273Val)
c.772C>G (p.Leu258Val)
c.424+1216C>G
c.550C>G (p.Leu184Val)
c.*627C>G (n.*627C>G)
Xg.48905176G>TCA412895336SLC35A2c.733C>A (p.Leu245Met)
c.355-284C>A (n.355-284C>A)
c.427-284C>A (n.427-284C>A)
c.295C>A
c.517C>A (p.Leu173Met)
c.817C>A (p.Leu273Met)
c.772C>A (p.Leu258Met)
c.424+1216C>A
c.550C>A (p.Leu184Met)
c.*627C>A (n.*627C>A)
Xg.48905177T>ACA516360003SLC35A2c.732A>T (p.Ala244=)
c.355-285A>T (n.355-285A>T)
c.427-285A>T (n.427-285A>T)
c.294A>T
c.516A>T (p.Ala172=)
c.816A>T (p.Ala272=)
c.771A>T (p.Ala257=)
c.424+1215A>T
c.549A>T (p.Ala183=)
c.*626A>T (n.*626A>T)
Xg.48905177T>CCA516360004SLC35A2c.732A>G (p.Ala244=)
c.355-285A>G (n.355-285A>G)
c.427-285A>G (n.427-285A>G)
c.294A>G
c.516A>G (p.Ala172=)
c.816A>G (p.Ala272=)
c.771A>G (p.Ala257=)
c.424+1215A>G
c.549A>G (p.Ala183=)
c.*626A>G (n.*626A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905177T>GCA516360005SLC35A2c.732A>C (p.Ala244=)
c.355-285A>C (n.355-285A>C)
c.427-285A>C (n.427-285A>C)
c.294A>C
c.516A>C (p.Ala172=)
c.816A>C (p.Ala272=)
c.771A>C (p.Ala257=)
c.424+1215A>C
c.549A>C (p.Ala183=)
c.*626A>C (n.*626A>C)
Xg.48905177T=CA2428428889SLC35A2c.732A= (p.Ala244=)
c.355-285A= (n.355-285A=)
c.427-285A= (n.427-285A=)
c.294A=
c.516A= (p.Ala172=)
c.816A= (p.Ala272=)
c.771A= (p.Ala257=)
c.424+1215A=
c.549A= (p.Ala183=)
c.*626A= (n.*626A=)
Xg.48905178G>ACA412895337SLC35A2c.731C>T (p.Ala244Val)
c.355-286C>T (n.355-286C>T)
c.427-286C>T (n.427-286C>T)
c.293C>T
c.515C>T (p.Ala172Val)
c.815C>T (p.Ala272Val)
c.770C>T (p.Ala257Val)
c.424+1214C>T
c.548C>T (p.Ala183Val)
c.*625C>T (n.*625C>T)
 dbSNP
Xg.48905178G>CCA412895338SLC35A2c.731C>G (p.Ala244Gly)
c.355-286C>G (n.355-286C>G)
c.427-286C>G (n.427-286C>G)
c.293C>G
c.515C>G (p.Ala172Gly)
c.815C>G (p.Ala272Gly)
c.770C>G (p.Ala257Gly)
c.424+1214C>G
c.548C>G (p.Ala183Gly)
c.*625C>G (n.*625C>G)
Xg.48905178G=CA2428428890SLC35A2c.731C= (p.Ala244=)
c.355-286C= (n.355-286C=)
c.427-286C= (n.427-286C=)
c.293C=
c.515C= (p.Ala172=)
c.815C= (p.Ala272=)
c.770C= (p.Ala257=)
c.424+1214C=
c.548C= (p.Ala183=)
c.*625C= (n.*625C=)
Xg.48905178G>TCA412895339SLC35A2c.731C>A (p.Ala244Glu)
c.355-286C>A (n.355-286C>A)
c.427-286C>A (n.427-286C>A)
c.293C>A
c.515C>A (p.Ala172Glu)
c.815C>A (p.Ala272Glu)
c.770C>A (p.Ala257Glu)
c.424+1214C>A
c.548C>A (p.Ala183Glu)
c.*625C>A (n.*625C>A)
Xg.48905179C>ACA412895340SLC35A2c.730G>T (p.Ala244Ser)
c.355-287G>T (n.355-287G>T)
c.427-287G>T (n.427-287G>T)
c.292G>T
c.514G>T (p.Ala172Ser)
c.814G>T (p.Ala272Ser)
c.769G>T (p.Ala257Ser)
c.424+1213G>T
c.547G>T (p.Ala183Ser)
c.*624G>T (n.*624G>T)
Xg.48905179C>GCA412895341SLC35A2c.730G>C (p.Ala244Pro)
c.355-287G>C (n.355-287G>C)
c.427-287G>C (n.427-287G>C)
c.292G>C
c.514G>C (p.Ala172Pro)
c.814G>C (p.Ala272Pro)
c.769G>C (p.Ala257Pro)
c.424+1213G>C
c.547G>C (p.Ala183Pro)
c.*624G>C (n.*624G>C)
Xg.48905179C>TCA412895342SLC35A2c.730G>A (p.Ala244Thr)
c.355-287G>A (n.355-287G>A)
c.427-287G>A (n.427-287G>A)
c.292G>A
c.514G>A (p.Ala172Thr)
c.814G>A (p.Ala272Thr)
c.769G>A (p.Ala257Thr)
c.424+1213G>A
c.547G>A (p.Ala183Thr)
c.*624G>A (n.*624G>A)
Xg.48905180T>ACA516360009SLC35A2c.729A>T (p.Thr243=)
c.355-288A>T (n.355-288A>T)
c.427-288A>T (n.427-288A>T)
c.291A>T
c.513A>T (p.Thr171=)
c.813A>T (p.Thr271=)
c.768A>T (p.Thr256=)
c.424+1212A>T
c.546A>T (p.Thr182=)
c.*623A>T (n.*623A>T)
Xg.48905180T>CCA10406103SLC35A2c.729A>G (p.Thr243=)
c.355-288A>G (n.355-288A>G)
c.427-288A>G (n.427-288A>G)
c.291A>G
c.513A>G (p.Thr171=)
c.813A>G (p.Thr271=)
c.768A>G (p.Thr256=)
c.424+1212A>G
c.546A>G (p.Thr182=)
c.*623A>G (n.*623A>G)
 dbSNP ExAC gnomAD v4
Xg.48905180T>GCA516360010SLC35A2c.729A>C (p.Thr243=)
c.355-288A>C (n.355-288A>C)
c.427-288A>C (n.427-288A>C)
c.291A>C
c.513A>C (p.Thr171=)
c.813A>C (p.Thr271=)
c.768A>C (p.Thr256=)
c.424+1212A>C
c.546A>C (p.Thr182=)
c.*623A>C (n.*623A>C)
Xg.48905180T=CA2428428891SLC35A2c.729A= (p.Thr243=)
c.355-288A= (n.355-288A=)
c.427-288A= (n.427-288A=)
c.291A=
c.513A= (p.Thr171=)
c.813A= (p.Thr271=)
c.768A= (p.Thr256=)
c.424+1212A=
c.546A= (p.Thr182=)
c.*623A= (n.*623A=)
Xg.48905181G>ACA412895343SLC35A2c.728C>T (p.Thr243Ile)
c.355-289C>T (n.355-289C>T)
c.427-289C>T (n.427-289C>T)
c.290C>T
c.512C>T (p.Thr171Ile)
c.812C>T (p.Thr271Ile)
c.767C>T (p.Thr256Ile)
c.424+1211C>T
c.545C>T (p.Thr182Ile)
c.*622C>T (n.*622C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905181G>CCA412895344SLC35A2c.728C>G (p.Thr243Arg)
c.355-289C>G (n.355-289C>G)
c.427-289C>G (n.427-289C>G)
c.290C>G
c.512C>G (p.Thr171Arg)
c.812C>G (p.Thr271Arg)
c.767C>G (p.Thr256Arg)
c.424+1211C>G
c.545C>G (p.Thr182Arg)
c.*622C>G (n.*622C>G)
Xg.48905181G=CA2428428892SLC35A2c.728C= (p.Thr243=)
c.355-289C= (n.355-289C=)
c.427-289C= (n.427-289C=)
c.290C=
c.512C= (p.Thr171=)
c.812C= (p.Thr271=)
c.767C= (p.Thr256=)
c.424+1211C=
c.545C= (p.Thr182=)
c.*622C= (n.*622C=)
Xg.48905181G>TCA412895345SLC35A2c.728C>A (p.Thr243Lys)
c.355-289C>A (n.355-289C>A)
c.427-289C>A (n.427-289C>A)
c.290C>A
c.512C>A (p.Thr171Lys)
c.812C>A (p.Thr271Lys)
c.767C>A (p.Thr256Lys)
c.424+1211C>A
c.545C>A (p.Thr182Lys)
c.*622C>A (n.*622C>A)
Xg.48905182T>ACA412895348SLC35A2c.727A>T (p.Thr243Ser)
c.355-290A>T (n.355-290A>T)
c.427-290A>T (n.427-290A>T)
c.289A>T
c.511A>T (p.Thr171Ser)
c.811A>T (p.Thr271Ser)
c.766A>T (p.Thr256Ser)
c.424+1210A>T
c.544A>T (p.Thr182Ser)
c.*621A>T (n.*621A>T)
Xg.48905182T>CCA412895346SLC35A2c.727A>G (p.Thr243Ala)
c.355-290A>G (n.355-290A>G)
c.427-290A>G (n.427-290A>G)
c.289A>G
c.511A>G (p.Thr171Ala)
c.811A>G (p.Thr271Ala)
c.766A>G (p.Thr256Ala)
c.424+1210A>G
c.544A>G (p.Thr182Ala)
c.*621A>G (n.*621A>G)
Xg.48905182T>GCA412895347SLC35A2c.727A>C (p.Thr243Pro)
c.355-290A>C (n.355-290A>C)
c.427-290A>C (n.427-290A>C)
c.289A>C
c.511A>C (p.Thr171Pro)
c.811A>C (p.Thr271Pro)
c.766A>C (p.Thr256Pro)
c.424+1210A>C
c.544A>C (p.Thr182Pro)
c.*621A>C (n.*621A>C)
Xg.48905183G>ACA516360013SLC35A2c.726C>T (p.Gly242=)
c.355-291C>T (n.355-291C>T)
c.427-291C>T (n.427-291C>T)
c.288C>T
c.510C>T (p.Gly170=)
c.810C>T (p.Gly270=)
c.765C>T (p.Gly255=)
c.424+1209C>T
c.543C>T (p.Gly181=)
c.*620C>T (n.*620C>T)
Xg.48905183G>CCA516360014SLC35A2c.726C>G (p.Gly242=)
c.355-291C>G (n.355-291C>G)
c.427-291C>G (n.427-291C>G)
c.288C>G
c.510C>G (p.Gly170=)
c.810C>G (p.Gly270=)
c.765C>G (p.Gly255=)
c.424+1209C>G
c.543C>G (p.Gly181=)
c.*620C>G (n.*620C>G)
Xg.48905183G>TCA516360015SLC35A2c.726C>A (p.Gly242=)
c.355-291C>A (n.355-291C>A)
c.427-291C>A (n.427-291C>A)
c.288C>A
c.510C>A (p.Gly170=)
c.810C>A (p.Gly270=)
c.765C>A (p.Gly255=)
c.424+1209C>A
c.543C>A (p.Gly181=)
c.*620C>A (n.*620C>A)
Xg.48905184C>ACA412895349SLC35A2c.725G>T (p.Gly242Val)
c.355-292G>T (n.355-292G>T)
c.427-292G>T (n.427-292G>T)
c.287G>T
c.509G>T (p.Gly170Val)
c.809G>T (p.Gly270Val)
c.764G>T (p.Gly255Val)
c.424+1208G>T
c.542G>T (p.Gly181Val)
c.*619G>T (n.*619G>T)
Xg.48905184C>GCA412895350SLC35A2c.725G>C (p.Gly242Ala)
c.355-292G>C (n.355-292G>C)
c.427-292G>C (n.427-292G>C)
c.287G>C
c.509G>C (p.Gly170Ala)
c.809G>C (p.Gly270Ala)
c.764G>C (p.Gly255Ala)
c.424+1208G>C
c.542G>C (p.Gly181Ala)
c.*619G>C (n.*619G>C)
Xg.48905184C>TCA412895351SLC35A2c.725G>A (p.Gly242Asp)
c.355-292G>A (n.355-292G>A)
c.427-292G>A (n.427-292G>A)
c.287G>A
c.509G>A (p.Gly170Asp)
c.809G>A (p.Gly270Asp)
c.764G>A (p.Gly255Asp)
c.424+1208G>A
c.542G>A (p.Gly181Asp)
c.*619G>A (n.*619G>A)
Xg.48905185C>ACA412895352SLC35A2c.724G>T (p.Gly242Cys)
c.355-293G>T (n.355-293G>T)
c.427-293G>T (n.427-293G>T)
c.286G>T
c.508G>T (p.Gly170Cys)
c.808G>T (p.Gly270Cys)
c.763G>T (p.Gly255Cys)
c.424+1207G>T
c.541G>T (p.Gly181Cys)
c.*618G>T (n.*618G>T)
 gnomAD v4
Xg.48905185C=CA2428428893SLC35A2c.724G= (p.Gly242=)
c.355-293G= (n.355-293G=)
c.427-293G= (n.427-293G=)
c.286G=
c.508G= (p.Gly170=)
c.808G= (p.Gly270=)
c.763G= (p.Gly255=)
c.424+1207G=
c.541G= (p.Gly181=)
c.*618G= (n.*618G=)
Xg.48905185C>GCA412895353SLC35A2c.724G>C (p.Gly242Arg)
c.355-293G>C (n.355-293G>C)
c.427-293G>C (n.427-293G>C)
c.286G>C
c.508G>C (p.Gly170Arg)
c.808G>C (p.Gly270Arg)
c.763G>C (p.Gly255Arg)
c.424+1207G>C
c.541G>C (p.Gly181Arg)
c.*618G>C (n.*618G>C)
Xg.48905185C>TCA412895354SLC35A2c.724G>A (p.Gly242Ser)
c.355-293G>A (n.355-293G>A)
c.427-293G>A (n.427-293G>A)
c.286G>A
c.508G>A (p.Gly170Ser)
c.808G>A (p.Gly270Ser)
c.763G>A (p.Gly255Ser)
c.424+1207G>A
c.541G>A (p.Gly181Ser)
c.*618G>A (n.*618G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905186G>ACA329098890SLC35A2c.723C>T (p.Phe241=)
c.355-294C>T (n.355-294C>T)
c.427-294C>T (n.427-294C>T)
c.285C>T
c.507C>T (p.Phe169=)
c.807C>T (p.Phe269=)
c.762C>T (p.Phe254=)
c.424+1206C>T
c.540C>T (p.Phe180=)
c.*617C>T (n.*617C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905186G>CCA412895355SLC35A2c.723C>G (p.Phe241Leu)
c.355-294C>G (n.355-294C>G)
c.427-294C>G (n.427-294C>G)
c.285C>G
c.507C>G (p.Phe169Leu)
c.807C>G (p.Phe269Leu)
c.762C>G (p.Phe254Leu)
c.424+1206C>G
c.540C>G (p.Phe180Leu)
c.*617C>G (n.*617C>G)
Xg.48905186G=CA2428428894SLC35A2c.723C= (p.Phe241=)
c.355-294C= (n.355-294C=)
c.427-294C= (n.427-294C=)
c.285C=
c.507C= (p.Phe169=)
c.807C= (p.Phe269=)
c.762C= (p.Phe254=)
c.424+1206C=
c.540C= (p.Phe180=)
c.*617C= (n.*617C=)
Xg.48905186G>TCA412895356SLC35A2c.723C>A (p.Phe241Leu)
c.355-294C>A (n.355-294C>A)
c.427-294C>A (n.427-294C>A)
c.285C>A
c.507C>A (p.Phe169Leu)
c.807C>A (p.Phe269Leu)
c.762C>A (p.Phe254Leu)
c.424+1206C>A
c.540C>A (p.Phe180Leu)
c.*617C>A (n.*617C>A)
Xg.48905187A>CCA412895357SLC35A2c.722T>G (p.Phe241Cys)
c.355-295T>G (n.355-295T>G)
c.427-295T>G (n.427-295T>G)
c.284T>G
c.506T>G (p.Phe169Cys)
c.806T>G (p.Phe269Cys)
c.761T>G (p.Phe254Cys)
c.424+1205T>G
c.539T>G (p.Phe180Cys)
c.*616T>G (n.*616T>G)
Xg.48905187A>GCA412895358SLC35A2c.722T>C (p.Phe241Ser)
c.355-295T>C (n.355-295T>C)
c.427-295T>C (n.427-295T>C)
c.284T>C
c.506T>C (p.Phe169Ser)
c.806T>C (p.Phe269Ser)
c.761T>C (p.Phe254Ser)
c.424+1205T>C
c.539T>C (p.Phe180Ser)
c.*616T>C (n.*616T>C)
Xg.48905187A>TCA412895359SLC35A2c.722T>A (p.Phe241Tyr)
c.355-295T>A (n.355-295T>A)
c.427-295T>A (n.427-295T>A)
c.284T>A
c.506T>A (p.Phe169Tyr)
c.806T>A (p.Phe269Tyr)
c.761T>A (p.Phe254Tyr)
c.424+1205T>A
c.539T>A (p.Phe180Tyr)
c.*616T>A (n.*616T>A)
Xg.48905188A>CCA412895361SLC35A2c.721T>G (p.Phe241Val)
c.355-296T>G (n.355-296T>G)
c.427-296T>G (n.427-296T>G)
c.283T>G
c.505T>G (p.Phe169Val)
c.805T>G (p.Phe269Val)
c.760T>G (p.Phe254Val)
c.424+1204T>G
c.538T>G (p.Phe180Val)
c.*615T>G (n.*615T>G)
Xg.48905188A>GCA412895362SLC35A2c.721T>C (p.Phe241Leu)
c.355-296T>C (n.355-296T>C)
c.427-296T>C (n.427-296T>C)
c.283T>C
c.505T>C (p.Phe169Leu)
c.805T>C (p.Phe269Leu)
c.760T>C (p.Phe254Leu)
c.424+1204T>C
c.538T>C (p.Phe180Leu)
c.*615T>C (n.*615T>C)
Xg.48905188A>TCA412895360SLC35A2c.721T>A (p.Phe241Ile)
c.355-296T>A (n.355-296T>A)
c.427-296T>A (n.427-296T>A)
c.283T>A
c.505T>A (p.Phe169Ile)
c.805T>A (p.Phe269Ile)
c.760T>A (p.Phe254Ile)
c.424+1204T>A
c.538T>A (p.Phe180Ile)
c.*615T>A (n.*615T>A)
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)
Xg.48905204G>CCA412895393SLC35A2c.705C>G (p.Asn235Lys)
c.355-312C>G (n.355-312C>G)
c.427-312C>G (n.427-312C>G)
c.267C>G
c.489C>G (p.Asn163Lys)
c.789C>G (p.Asn263Lys)
c.744C>G (p.Asn248Lys)
c.424+1188C>G
c.522C>G (p.Asn174Lys)
c.*599C>G (n.*599C>G)
Xg.48905204G>TCA412895394SLC35A2c.705C>A (p.Asn235Lys)
c.355-312C>A (n.355-312C>A)
c.427-312C>A (n.427-312C>A)
c.267C>A
c.489C>A (p.Asn163Lys)
c.789C>A (p.Asn263Lys)
c.744C>A (p.Asn248Lys)
c.424+1188C>A
c.522C>A (p.Asn174Lys)
c.*599C>A (n.*599C>A)
Xg.48905205T>ACA412895397SLC35A2c.704A>T (p.Asn235Ile)
c.355-313A>T (n.355-313A>T)
c.427-313A>T (n.427-313A>T)
c.266A>T
c.488A>T (p.Asn163Ile)
c.788A>T (p.Asn263Ile)
c.743A>T (p.Asn248Ile)
c.424+1187A>T
c.521A>T (p.Asn174Ile)
c.*598A>T (n.*598A>T)
Xg.48905205T>CCA412895396SLC35A2c.704A>G (p.Asn235Ser)
c.355-313A>G (n.355-313A>G)
c.427-313A>G (n.427-313A>G)
c.266A>G
c.488A>G (p.Asn163Ser)
c.788A>G (p.Asn263Ser)
c.743A>G (p.Asn248Ser)
c.424+1187A>G
c.521A>G (p.Asn174Ser)
c.*598A>G (n.*598A>G)
Xg.48905205T>GCA412895395SLC35A2c.704A>C (p.Asn235Thr)
c.355-313A>C (n.355-313A>C)
c.427-313A>C (n.427-313A>C)
c.266A>C
c.488A>C (p.Asn163Thr)
c.788A>C (p.Asn263Thr)
c.743A>C (p.Asn248Thr)
c.424+1187A>C
c.521A>C (p.Asn174Thr)
c.*598A>C (n.*598A>C)
Xg.48905206T>ACA412895398SLC35A2c.703A>T (p.Asn235Tyr)
c.355-314A>T (n.355-314A>T)
c.427-314A>T (n.427-314A>T)
c.265A>T
c.487A>T (p.Asn163Tyr)
c.787A>T (p.Asn263Tyr)
c.742A>T (p.Asn248Tyr)
c.424+1186A>T
c.520A>T (p.Asn174Tyr)
c.*597A>T (n.*597A>T)
Xg.48905206T>CCA412895399SLC35A2c.703A>G (p.Asn235Asp)
c.355-314A>G (n.355-314A>G)
c.427-314A>G (n.427-314A>G)
c.265A>G
c.487A>G (p.Asn163Asp)
c.787A>G (p.Asn263Asp)
c.742A>G (p.Asn248Asp)
c.424+1186A>G
c.520A>G (p.Asn174Asp)
c.*597A>G (n.*597A>G)
Xg.48905206T>GCA412895400SLC35A2c.703A>C (p.Asn235His)
c.355-314A>C (n.355-314A>C)
c.427-314A>C (n.427-314A>C)
c.265A>C
c.487A>C (p.Asn163His)
c.787A>C (p.Asn263His)
c.742A>C (p.Asn248His)
c.424+1186A>C
c.520A>C (p.Asn174His)
c.*597A>C (n.*597A>C)
Xg.48905207G>ACA10406104SLC35A2c.702C>T (p.Arg234=)
c.355-315C>T (n.355-315C>T)
c.427-315C>T (n.427-315C>T)
c.264C>T
c.486C>T (p.Arg162=)
c.786C>T (p.Arg262=)
c.741C>T (p.Arg247=)
c.424+1185C>T
c.519C>T (p.Arg173=)
c.*596C>T (n.*596C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905207G>CCA516360058SLC35A2c.702C>G (p.Arg234=)
c.355-315C>G (n.355-315C>G)
c.427-315C>G (n.427-315C>G)
c.264C>G
c.486C>G (p.Arg162=)
c.786C>G (p.Arg262=)
c.741C>G (p.Arg247=)
c.424+1185C>G
c.519C>G (p.Arg173=)
c.*596C>G (n.*596C>G)
Xg.48905207G=CA2428428897SLC35A2c.702C= (p.Arg234=)
c.355-315C= (n.355-315C=)
c.427-315C= (n.427-315C=)
c.264C=
c.486C= (p.Arg162=)
c.786C= (p.Arg262=)
c.741C= (p.Arg247=)
c.424+1185C=
c.519C= (p.Arg173=)
c.*596C= (n.*596C=)
Xg.48905207G>TCA516360061SLC35A2c.702C>A (p.Arg234=)
c.355-315C>A (n.355-315C>A)
c.427-315C>A (n.427-315C>A)
c.264C>A
c.486C>A (p.Arg162=)
c.786C>A (p.Arg262=)
c.741C>A (p.Arg247=)
c.424+1185C>A
c.519C>A (p.Arg173=)
c.*596C>A (n.*596C>A)
Xg.48905208C>ACA412895401SLC35A2c.701G>T (p.Arg234Leu)
c.355-316G>T (n.355-316G>T)
c.427-316G>T (n.427-316G>T)
c.263G>T
c.485G>T (p.Arg162Leu)
c.785G>T (p.Arg262Leu)
c.740G>T (p.Arg247Leu)
c.424+1184G>T
c.518G>T (p.Arg173Leu)
c.*595G>T (n.*595G>T)
Xg.48905208C=CA2428428898SLC35A2c.701G= (p.Arg234=)
c.355-316G= (n.355-316G=)
c.427-316G= (n.427-316G=)
c.263G=
c.485G= (p.Arg162=)
c.785G= (p.Arg262=)
c.740G= (p.Arg247=)
c.424+1184G=
c.518G= (p.Arg173=)
c.*595G= (n.*595G=)
Xg.48905208C>GCA412895402SLC35A2c.701G>C (p.Arg234Pro)
c.355-316G>C (n.355-316G>C)
c.427-316G>C (n.427-316G>C)
c.263G>C
c.485G>C (p.Arg162Pro)
c.785G>C (p.Arg262Pro)
c.740G>C (p.Arg247Pro)
c.424+1184G>C
c.518G>C (p.Arg173Pro)
c.*595G>C (n.*595G>C)
Xg.48905208C>TCA412895403SLC35A2c.701G>A (p.Arg234His)
c.355-316G>A (n.355-316G>A)
c.427-316G>A (n.427-316G>A)
c.263G>A
c.485G>A (p.Arg162His)
c.785G>A (p.Arg262His)
c.740G>A (p.Arg247His)
c.424+1184G>A
c.518G>A (p.Arg173His)
c.*595G>A (n.*595G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905209G>ACA412895404SLC35A2c.700C>T (p.Arg234Cys)
c.355-317C>T (n.355-317C>T)
c.427-317C>T (n.427-317C>T)
c.262C>T
c.484C>T (p.Arg162Cys)
c.784C>T (p.Arg262Cys)
c.739C>T (p.Arg247Cys)
c.424+1183C>T
c.517C>T (p.Arg173Cys)
c.*594C>T (n.*594C>T)
 ClinVar dbSNP gnomAD v4
Xg.48905209G>CCA412895405SLC35A2c.700C>G (p.Arg234Gly)
c.355-317C>G (n.355-317C>G)
c.427-317C>G (n.427-317C>G)
c.262C>G
c.484C>G (p.Arg162Gly)
c.784C>G (p.Arg262Gly)
c.739C>G (p.Arg247Gly)
c.424+1183C>G
c.517C>G (p.Arg173Gly)
c.*594C>G (n.*594C>G)
Xg.48905209G=CA2428428899SLC35A2c.700C= (p.Arg234=)
c.355-317C= (n.355-317C=)
c.427-317C= (n.427-317C=)
c.262C=
c.484C= (p.Arg162=)
c.784C= (p.Arg262=)
c.739C= (p.Arg247=)
c.424+1183C=
c.517C= (p.Arg173=)
c.*594C= (n.*594C=)
Xg.48905209G>TCA412895406SLC35A2c.700C>A (p.Arg234Ser)
c.355-317C>A (n.355-317C>A)
c.427-317C>A (n.427-317C>A)
c.262C>A
c.484C>A (p.Arg162Ser)
c.784C>A (p.Arg262Ser)
c.739C>A (p.Arg247Ser)
c.424+1183C>A
c.517C>A (p.Arg173Ser)
c.*594C>A (n.*594C>A)
Xg.48905210C>ACA516360068SLC35A2c.699G>T (p.Leu233=)
c.355-318G>T (n.355-318G>T)
c.427-318G>T (n.427-318G>T)
c.261G>T
c.483G>T (p.Leu161=)
c.783G>T (p.Leu261=)
c.738G>T (p.Leu246=)
c.424+1182G>T
c.516G>T (p.Leu172=)
c.*593G>T (n.*593G>T)
Xg.48905210C>GCA516360065SLC35A2c.699G>C (p.Leu233=)
c.355-318G>C (n.355-318G>C)
c.427-318G>C (n.427-318G>C)
c.261G>C
c.483G>C (p.Leu161=)
c.783G>C (p.Leu261=)
c.738G>C (p.Leu246=)
c.424+1182G>C
c.516G>C (p.Leu172=)
c.*593G>C (n.*593G>C)
Xg.48905210C>TCA516360063SLC35A2c.699G>A (p.Leu233=)
c.355-318G>A (n.355-318G>A)
c.427-318G>A (n.427-318G>A)
c.261G>A
c.483G>A (p.Leu161=)
c.783G>A (p.Leu261=)
c.738G>A (p.Leu246=)
c.424+1182G>A
c.516G>A (p.Leu172=)
c.*593G>A (n.*593G>A)
Xg.48905211A>CCA412895407SLC35A2c.698T>G (p.Leu233Arg)
c.355-319T>G (n.355-319T>G)
c.427-319T>G (n.427-319T>G)
c.260T>G
c.482T>G (p.Leu161Arg)
c.782T>G (p.Leu261Arg)
c.737T>G (p.Leu246Arg)
c.424+1181T>G
c.515T>G (p.Leu172Arg)
c.*592T>G (n.*592T>G)
Xg.48905211A>GCA412895408SLC35A2c.698T>C (p.Leu233Pro)
c.355-319T>C (n.355-319T>C)
c.427-319T>C (n.427-319T>C)
c.260T>C
c.482T>C (p.Leu161Pro)
c.782T>C (p.Leu261Pro)
c.737T>C (p.Leu246Pro)
c.424+1181T>C
c.515T>C (p.Leu172Pro)
c.*592T>C (n.*592T>C)
Xg.48905211A>TCA412895409SLC35A2c.698T>A (p.Leu233Gln)
c.355-319T>A (n.355-319T>A)
c.427-319T>A (n.427-319T>A)
c.260T>A
c.482T>A (p.Leu161Gln)
c.782T>A (p.Leu261Gln)
c.737T>A (p.Leu246Gln)
c.424+1181T>A
c.515T>A (p.Leu172Gln)
c.*592T>A (n.*592T>A)
Xg.48905212G>ACA516360071SLC35A2c.697C>T (p.Leu233=)
c.355-320C>T (n.355-320C>T)
c.427-320C>T (n.427-320C>T)
c.259C>T
c.481C>T (p.Leu161=)
c.781C>T (p.Leu261=)
c.736C>T (p.Leu246=)
c.424+1180C>T
c.514C>T (p.Leu172=)
c.*591C>T (n.*591C>T)
Xg.48905212G>CCA412895411SLC35A2c.697C>G (p.Leu233Val)
c.355-320C>G (n.355-320C>G)
c.427-320C>G (n.427-320C>G)
c.259C>G
c.481C>G (p.Leu161Val)
c.781C>G (p.Leu261Val)
c.736C>G (p.Leu246Val)
c.424+1180C>G
c.514C>G (p.Leu172Val)
c.*591C>G (n.*591C>G)
Xg.48905212G>TCA412895410SLC35A2c.697C>A (p.Leu233Met)
c.355-320C>A (n.355-320C>A)
c.427-320C>A (n.427-320C>A)
c.259C>A
c.481C>A (p.Leu161Met)
c.781C>A (p.Leu261Met)
c.736C>A (p.Leu246Met)
c.424+1180C>A
c.514C>A (p.Leu172Met)
c.*591C>A (n.*591C>A)
Xg.48905213C>ACA412895412SLC35A2c.696G>T (p.Trp232Cys)
c.355-321G>T (n.355-321G>T)
c.427-321G>T (n.427-321G>T)
c.258G>T
c.480G>T (p.Trp160Cys)
c.780G>T (p.Trp260Cys)
c.735G>T (p.Trp245Cys)
c.424+1179G>T
c.513G>T (p.Trp171Cys)
c.*590G>T (n.*590G>T)
 dbSNP
Xg.48905213C=CA2428428900SLC35A2c.696G= (p.Trp232=)
c.355-321G= (n.355-321G=)
c.427-321G= (n.427-321G=)
c.258G=
c.480G= (p.Trp160=)
c.780G= (p.Trp260=)
c.735G= (p.Trp245=)
c.424+1179G=
c.513G= (p.Trp171=)
c.*590G= (n.*590G=)
Xg.48905213C>GCA412895413SLC35A2c.696G>C (p.Trp232Cys)
c.355-321G>C (n.355-321G>C)
c.427-321G>C (n.427-321G>C)
c.258G>C
c.480G>C (p.Trp160Cys)
c.780G>C (p.Trp260Cys)
c.735G>C (p.Trp245Cys)
c.424+1179G>C
c.513G>C (p.Trp171Cys)
c.*590G>C (n.*590G>C)
Xg.48905213C>TCA412895414SLC35A2c.696G>A (p.Trp232Ter)
c.355-321G>A (n.355-321G>A)
c.427-321G>A (n.427-321G>A)
c.258G>A
c.480G>A (p.Trp160Ter)
c.780G>A (p.Trp260Ter)
c.735G>A (p.Trp245Ter)
c.424+1179G>A
c.513G>A (p.Trp171Ter)
c.*590G>A (n.*590G>A)
 ClinVar dbSNP
Xg.48905214C>ACA412895415SLC35A2c.695G>T (p.Trp232Leu)
c.355-322G>T (n.355-322G>T)
c.427-322G>T (n.427-322G>T)
c.257G>T
c.479G>T (p.Trp160Leu)
c.779G>T (p.Trp260Leu)
c.734G>T (p.Trp245Leu)
c.424+1178G>T
c.512G>T (p.Trp171Leu)
c.*589G>T (n.*589G>T)
Xg.48905214C>GCA412895416SLC35A2c.695G>C (p.Trp232Ser)
c.355-322G>C (n.355-322G>C)
c.427-322G>C (n.427-322G>C)
c.257G>C
c.479G>C (p.Trp160Ser)
c.779G>C (p.Trp260Ser)
c.734G>C (p.Trp245Ser)
c.424+1178G>C
c.512G>C (p.Trp171Ser)
c.*589G>C (n.*589G>C)
Xg.48905214C>TCA412895417SLC35A2c.695G>A (p.Trp232Ter)
c.355-322G>A (n.355-322G>A)
c.427-322G>A (n.427-322G>A)
c.257G>A
c.479G>A (p.Trp160Ter)
c.779G>A (p.Trp260Ter)
c.734G>A (p.Trp245Ter)
c.424+1178G>A
c.512G>A (p.Trp171Ter)
c.*589G>A (n.*589G>A)
Xg.48905215A>CCA412895418SLC35A2c.694T>G (p.Trp232Gly)
c.355-323T>G (n.355-323T>G)
c.427-323T>G (n.427-323T>G)
c.256T>G
c.478T>G (p.Trp160Gly)
c.778T>G (p.Trp260Gly)
c.733T>G (p.Trp245Gly)
c.424+1177T>G
c.511T>G (p.Trp171Gly)
c.*588T>G (n.*588T>G)
Xg.48905215A>GCA412895419SLC35A2c.694T>C (p.Trp232Arg)
c.355-323T>C (n.355-323T>C)
c.427-323T>C (n.427-323T>C)
c.256T>C
c.478T>C (p.Trp160Arg)
c.778T>C (p.Trp260Arg)
c.733T>C (p.Trp245Arg)
c.424+1177T>C
c.511T>C (p.Trp171Arg)
c.*588T>C (n.*588T>C)
Xg.48905215A>TCA412895420SLC35A2c.694T>A (p.Trp232Arg)
c.355-323T>A (n.355-323T>A)
c.427-323T>A (n.427-323T>A)
c.256T>A
c.478T>A (p.Trp160Arg)
c.778T>A (p.Trp260Arg)
c.733T>A (p.Trp245Arg)
c.424+1177T>A
c.511T>A (p.Trp171Arg)
c.*588T>A (n.*588T>A)
Xg.48905216C>ACA516360080SLC35A2c.693G>T (p.Val231=)
c.355-324G>T (n.355-324G>T)
c.427-324G>T (n.427-324G>T)
c.255G>T
c.477G>T (p.Val159=)
c.777G>T (p.Val259=)
c.732G>T (p.Val244=)
c.424+1176G>T
c.510G>T (p.Val170=)
c.*587G>T (n.*587G>T)
Xg.48905216C>GCA516360083SLC35A2c.693G>C (p.Val231=)
c.355-324G>C (n.355-324G>C)
c.427-324G>C (n.427-324G>C)
c.255G>C
c.477G>C (p.Val159=)
c.777G>C (p.Val259=)
c.732G>C (p.Val244=)
c.424+1176G>C
c.510G>C (p.Val170=)
c.*587G>C (n.*587G>C)
Xg.48905216C>TCA516360084SLC35A2c.693G>A (p.Val231=)
c.355-324G>A (n.355-324G>A)
c.427-324G>A (n.427-324G>A)
c.255G>A
c.477G>A (p.Val159=)
c.777G>A (p.Val259=)
c.732G>A (p.Val244=)
c.424+1176G>A
c.510G>A (p.Val170=)
c.*587G>A (n.*587G>A)
Xg.48905217A>CCA412895421SLC35A2c.692T>G (p.Val231Gly)
c.355-325T>G (n.355-325T>G)
c.427-325T>G (n.427-325T>G)
c.254T>G
c.476T>G (p.Val159Gly)
c.776T>G (p.Val259Gly)
c.731T>G (p.Val244Gly)
c.424+1175T>G
c.509T>G (p.Val170Gly)
c.*586T>G (n.*586T>G)
Xg.48905217A>GCA412895422SLC35A2c.692T>C (p.Val231Ala)
c.355-325T>C (n.355-325T>C)
c.427-325T>C (n.427-325T>C)
c.254T>C
c.476T>C (p.Val159Ala)
c.776T>C (p.Val259Ala)
c.731T>C (p.Val244Ala)
c.424+1175T>C
c.509T>C (p.Val170Ala)
c.*586T>C (n.*586T>C)
Xg.48905217A>TCA412895423SLC35A2c.692T>A (p.Val231Glu)
c.355-325T>A (n.355-325T>A)
c.427-325T>A (n.427-325T>A)
c.254T>A
c.476T>A (p.Val159Glu)
c.776T>A (p.Val259Glu)
c.731T>A (p.Val244Glu)
c.424+1175T>A
c.509T>A (p.Val170Glu)
c.*586T>A (n.*586T>A)
Xg.48905218C>ACA412895425SLC35A2c.691G>T (p.Val231Leu)
c.355-326G>T (n.355-326G>T)
c.427-326G>T (n.427-326G>T)
c.253G>T
c.475G>T (p.Val159Leu)
c.775G>T (p.Val259Leu)
c.730G>T (p.Val244Leu)
c.424+1174G>T
c.508G>T (p.Val170Leu)
c.*585G>T (n.*585G>T)
Xg.48905218C=CA2428428901SLC35A2c.691G= (p.Val231=)
c.355-326G= (n.355-326G=)
c.427-326G= (n.427-326G=)
c.253G=
c.475G= (p.Val159=)
c.775G= (p.Val259=)
c.730G= (p.Val244=)
c.424+1174G=
c.508G= (p.Val170=)
c.*585G= (n.*585G=)
Xg.48905218C>GCA412895424SLC35A2c.691G>C (p.Val231Leu)
c.355-326G>C (n.355-326G>C)
c.427-326G>C (n.427-326G>C)
c.253G>C
c.475G>C (p.Val159Leu)
c.775G>C (p.Val259Leu)
c.730G>C (p.Val244Leu)
c.424+1174G>C
c.508G>C (p.Val170Leu)
c.*585G>C (n.*585G>C)
Xg.48905218C>TCA329098894SLC35A2c.691G>A (p.Val231Met)
c.355-326G>A (n.355-326G>A)
c.427-326G>A (n.427-326G>A)
c.253G>A
c.475G>A (p.Val159Met)
c.775G>A (p.Val259Met)
c.730G>A (p.Val244Met)
c.424+1174G>A
c.508G>A (p.Val170Met)
c.*585G>A (n.*585G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905219G>ACA10406105SLC35A2c.690C>T (p.Ser230=)
c.355-327C>T (n.355-327C>T)
c.427-327C>T (n.427-327C>T)
c.252C>T
c.474C>T (p.Ser158=)
c.774C>T (p.Ser258=)
c.729C>T (p.Ser243=)
c.424+1173C>T
c.507C>T (p.Ser169=)
c.*584C>T (n.*584C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48905219G>CCA516360089SLC35A2c.690C>G (p.Ser230=)
c.355-327C>G (n.355-327C>G)
c.427-327C>G (n.427-327C>G)
c.252C>G
c.474C>G (p.Ser158=)
c.774C>G (p.Ser258=)
c.729C>G (p.Ser243=)
c.424+1173C>G
c.507C>G (p.Ser169=)
c.*584C>G (n.*584C>G)
Xg.48905219G=CA2428428902SLC35A2c.690C= (p.Ser230=)
c.355-327C= (n.355-327C=)
c.427-327C= (n.427-327C=)
c.252C=
c.474C= (p.Ser158=)
c.774C= (p.Ser258=)
c.729C= (p.Ser243=)
c.424+1173C=
c.507C= (p.Ser169=)
c.*584C= (n.*584C=)
Xg.48905219G>TCA516360091SLC35A2c.690C>A (p.Ser230=)
c.355-327C>A (n.355-327C>A)
c.427-327C>A (n.427-327C>A)
c.252C>A
c.474C>A (p.Ser158=)
c.774C>A (p.Ser258=)
c.729C>A (p.Ser243=)
c.424+1173C>A
c.507C>A (p.Ser169=)
c.*584C>A (n.*584C>A)
Xg.48905220G>ACA412895426SLC35A2c.689C>T (p.Ser230Phe)
c.355-328C>T (n.355-328C>T)
c.427-328C>T (n.427-328C>T)
c.251C>T
c.473C>T (p.Ser158Phe)
c.773C>T (p.Ser258Phe)
c.728C>T (p.Ser243Phe)
c.424+1172C>T
c.506C>T (p.Ser169Phe)
c.*583C>T (n.*583C>T)
Xg.48905220G>CCA412895427SLC35A2c.689C>G (p.Ser230Cys)
c.355-328C>G (n.355-328C>G)
c.427-328C>G (n.427-328C>G)
c.251C>G
c.473C>G (p.Ser158Cys)
c.773C>G (p.Ser258Cys)
c.728C>G (p.Ser243Cys)
c.424+1172C>G
c.506C>G (p.Ser169Cys)
c.*583C>G (n.*583C>G)
Xg.48905220G>TCA412895428SLC35A2c.689C>A (p.Ser230Tyr)
c.355-328C>A (n.355-328C>A)
c.427-328C>A (n.427-328C>A)
c.251C>A
c.473C>A (p.Ser158Tyr)
c.773C>A (p.Ser258Tyr)
c.728C>A (p.Ser243Tyr)
c.424+1172C>A
c.506C>A (p.Ser169Tyr)
c.*583C>A (n.*583C>A)
Xg.48905221A>CCA412895429SLC35A2c.688T>G (p.Ser230Ala)
c.355-329T>G (n.355-329T>G)
c.427-329T>G (n.427-329T>G)
c.250T>G
c.472T>G (p.Ser158Ala)
c.772T>G (p.Ser258Ala)
c.727T>G (p.Ser243Ala)
c.424+1171T>G
c.505T>G (p.Ser169Ala)
c.*582T>G (n.*582T>G)
Xg.48905221A>GCA412895430SLC35A2c.688T>C (p.Ser230Pro)
c.355-329T>C (n.355-329T>C)
c.427-329T>C (n.427-329T>C)
c.250T>C
c.472T>C (p.Ser158Pro)
c.772T>C (p.Ser258Pro)
c.727T>C (p.Ser243Pro)
c.424+1171T>C
c.505T>C (p.Ser169Pro)
c.*582T>C (n.*582T>C)
Xg.48905221A>TCA412895431SLC35A2c.688T>A (p.Ser230Thr)
c.355-329T>A (n.355-329T>A)
c.427-329T>A (n.427-329T>A)
c.250T>A
c.472T>A (p.Ser158Thr)
c.772T>A (p.Ser258Thr)
c.727T>A (p.Ser243Thr)
c.424+1171T>A
c.505T>A (p.Ser169Thr)
c.*582T>A (n.*582T>A)
Xg.48905222G>ACA516360096SLC35A2c.687C>T (p.Gly229=)
c.355-330C>T (n.355-330C>T)
c.427-330C>T (n.427-330C>T)
c.249C>T
c.471C>T (p.Gly157=)
c.771C>T (p.Gly257=)
c.726C>T (p.Gly242=)
c.424+1170C>T
c.504C>T (p.Gly168=)
c.*581C>T (n.*581C>T)
Xg.48905222G>CCA516360097SLC35A2c.687C>G (p.Gly229=)
c.355-330C>G (n.355-330C>G)
c.427-330C>G (n.427-330C>G)
c.249C>G
c.471C>G (p.Gly157=)
c.771C>G (p.Gly257=)
c.726C>G (p.Gly242=)
c.424+1170C>G
c.504C>G (p.Gly168=)
c.*581C>G (n.*581C>G)
Xg.48905222G=CA2428428903SLC35A2c.687C= (p.Gly229=)
c.355-330C= (n.355-330C=)
c.427-330C= (n.427-330C=)
c.249C=
c.471C= (p.Gly157=)
c.771C= (p.Gly257=)
c.726C= (p.Gly242=)
c.424+1170C=
c.504C= (p.Gly168=)
c.*581C= (n.*581C=)
Xg.48905222G>TCA516360100SLC35A2c.687C>A (p.Gly229=)
c.355-330C>A (n.355-330C>A)
c.427-330C>A (n.427-330C>A)
c.249C>A
c.471C>A (p.Gly157=)
c.771C>A (p.Gly257=)
c.726C>A (p.Gly242=)
c.424+1170C>A
c.504C>A (p.Gly168=)
c.*581C>A (n.*581C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905223C>ACA412895432SLC35A2c.686G>T (p.Gly229Val)
c.355-331G>T (n.355-331G>T)
c.427-331G>T (n.427-331G>T)
c.248G>T
c.470G>T (p.Gly157Val)
c.770G>T (p.Gly257Val)
c.725G>T (p.Gly242Val)
c.424+1169G>T
c.503G>T (p.Gly168Val)
c.*580G>T (n.*580G>T)
Xg.48905223C>GCA412895433SLC35A2c.686G>C (p.Gly229Ala)
c.355-331G>C (n.355-331G>C)
c.427-331G>C (n.427-331G>C)
c.248G>C
c.470G>C (p.Gly157Ala)
c.770G>C (p.Gly257Ala)
c.725G>C (p.Gly242Ala)
c.424+1169G>C
c.503G>C (p.Gly168Ala)
c.*580G>C (n.*580G>C)
Xg.48905223C>TCA412895434SLC35A2c.686G>A (p.Gly229Asp)
c.355-331G>A (n.355-331G>A)
c.427-331G>A (n.427-331G>A)
c.248G>A
c.470G>A (p.Gly157Asp)
c.770G>A (p.Gly257Asp)
c.725G>A (p.Gly242Asp)
c.424+1169G>A
c.503G>A (p.Gly168Asp)
c.*580G>A (n.*580G>A)
Xg.48905224C>ACA412895435SLC35A2c.685G>T (p.Gly229Cys)
c.355-332G>T (n.355-332G>T)
c.427-332G>T (n.427-332G>T)
c.247G>T
c.469G>T (p.Gly157Cys)
c.769G>T (p.Gly257Cys)
c.724G>T (p.Gly242Cys)
c.424+1168G>T
c.502G>T (p.Gly168Cys)
c.*579G>T (n.*579G>T)
 gnomAD v4
Xg.48905224C=CA2428428904SLC35A2c.685G= (p.Gly229=)
c.355-332G= (n.355-332G=)
c.427-332G= (n.427-332G=)
c.247G=
c.469G= (p.Gly157=)
c.769G= (p.Gly257=)
c.724G= (p.Gly242=)
c.424+1168G=
c.502G= (p.Gly168=)
c.*579G= (n.*579G=)
Xg.48905224C>GCA412895436SLC35A2c.685G>C (p.Gly229Arg)
c.355-332G>C (n.355-332G>C)
c.427-332G>C (n.427-332G>C)
c.247G>C
c.469G>C (p.Gly157Arg)
c.769G>C (p.Gly257Arg)
c.724G>C (p.Gly242Arg)
c.424+1168G>C
c.502G>C (p.Gly168Arg)
c.*579G>C (n.*579G>C)
Xg.48905224C>TCA412895437SLC35A2c.685G>A (p.Gly229Ser)
c.355-332G>A (n.355-332G>A)
c.427-332G>A (n.427-332G>A)
c.247G>A
c.469G>A (p.Gly157Ser)
c.769G>A (p.Gly257Ser)
c.724G>A (p.Gly242Ser)
c.424+1168G>A
c.502G>A (p.Gly168Ser)
c.*579G>A (n.*579G>A)
 ClinVar dbSNP
Xg.48905225T>ACA516360105SLC35A2c.684A>T (p.Ser228=)
c.355-333A>T (n.355-333A>T)
c.427-333A>T (n.427-333A>T)
c.246A>T
c.468A>T (p.Ser156=)
c.768A>T (p.Ser256=)
c.723A>T (p.Ser241=)
c.424+1167A>T
c.501A>T (p.Ser167=)
c.*578A>T (n.*578A>T)
Xg.48905225T>CCA516360106SLC35A2c.684A>G (p.Ser228=)
c.355-333A>G (n.355-333A>G)
c.427-333A>G (n.427-333A>G)
c.246A>G
c.468A>G (p.Ser156=)
c.768A>G (p.Ser256=)
c.723A>G (p.Ser241=)
c.424+1167A>G
c.501A>G (p.Ser167=)
c.*578A>G (n.*578A>G)
 gnomAD v4
Xg.48905225T>GCA516360107SLC35A2c.684A>C (p.Ser228=)
c.355-333A>C (n.355-333A>C)
c.427-333A>C (n.427-333A>C)
c.246A>C
c.468A>C (p.Ser156=)
c.768A>C (p.Ser256=)
c.723A>C (p.Ser241=)
c.424+1167A>C
c.501A>C (p.Ser167=)
c.*578A>C (n.*578A>C)
Xg.48905226G>ACA412895440SLC35A2c.683C>T (p.Ser228Leu)
c.355-334C>T (n.355-334C>T)
c.427-334C>T (n.427-334C>T)
c.245C>T
c.467C>T (p.Ser156Leu)
c.767C>T (p.Ser256Leu)
c.722C>T (p.Ser241Leu)
c.424+1166C>T
c.500C>T (p.Ser167Leu)
c.*577C>T (n.*577C>T)
Xg.48905226G>CCA412895439SLC35A2c.683C>G (p.Ser228Ter)
c.355-334C>G (n.355-334C>G)
c.427-334C>G (n.427-334C>G)
c.245C>G
c.467C>G (p.Ser156Ter)
c.767C>G (p.Ser256Ter)
c.722C>G (p.Ser241Ter)
c.424+1166C>G
c.500C>G (p.Ser167Ter)
c.*577C>G (n.*577C>G)
Xg.48905226G>TCA412895438SLC35A2c.683C>A (p.Ser228Ter)
c.355-334C>A (n.355-334C>A)
c.427-334C>A (n.427-334C>A)
c.245C>A
c.467C>A (p.Ser156Ter)
c.767C>A (p.Ser256Ter)
c.722C>A (p.Ser241Ter)
c.424+1166C>A
c.500C>A (p.Ser167Ter)
c.*577C>A (n.*577C>A)
Xg.48905227A>CCA412895441SLC35A2c.682T>G (p.Ser228Ala)
c.355-335T>G (n.355-335T>G)
c.427-335T>G (n.427-335T>G)
c.244T>G
c.466T>G (p.Ser156Ala)
c.766T>G (p.Ser256Ala)
c.721T>G (p.Ser241Ala)
c.424+1165T>G
c.499T>G (p.Ser167Ala)
c.*576T>G (n.*576T>G)
Xg.48905227A>GCA412895442SLC35A2c.682T>C (p.Ser228Pro)
c.355-335T>C (n.355-335T>C)
c.427-335T>C (n.427-335T>C)
c.244T>C
c.466T>C (p.Ser156Pro)
c.766T>C (p.Ser256Pro)
c.721T>C (p.Ser241Pro)
c.424+1165T>C
c.499T>C (p.Ser167Pro)
c.*576T>C (n.*576T>C)
Xg.48905227A>TCA412895443SLC35A2c.682T>A (p.Ser228Thr)
c.355-335T>A (n.355-335T>A)
c.427-335T>A (n.427-335T>A)
c.244T>A
c.466T>A (p.Ser156Thr)
c.766T>A (p.Ser256Thr)
c.721T>A (p.Ser241Thr)
c.424+1165T>A
c.499T>A (p.Ser167Thr)
c.*576T>A (n.*576T>A)
Xg.48905228G>ACA516360114SLC35A2c.681C>T (p.Ser227=)
c.355-336C>T (n.355-336C>T)
c.427-336C>T (n.427-336C>T)
c.243C>T
c.465C>T (p.Ser155=)
c.765C>T (p.Ser255=)
c.720C>T (p.Ser240=)
c.424+1164C>T
c.498C>T (p.Ser166=)
c.*575C>T (n.*575C>T)
Xg.48905228G>CCA412895444SLC35A2c.681C>G (p.Ser227Arg)
c.355-336C>G (n.355-336C>G)
c.427-336C>G (n.427-336C>G)
c.243C>G
c.465C>G (p.Ser155Arg)
c.765C>G (p.Ser255Arg)
c.720C>G (p.Ser240Arg)
c.424+1164C>G
c.498C>G (p.Ser166Arg)
c.*575C>G (n.*575C>G)
Xg.48905228G>TCA412895445SLC35A2c.681C>A (p.Ser227Arg)
c.355-336C>A (n.355-336C>A)
c.427-336C>A (n.427-336C>A)
c.243C>A
c.465C>A (p.Ser155Arg)
c.765C>A (p.Ser255Arg)
c.720C>A (p.Ser240Arg)
c.424+1164C>A
c.498C>A (p.Ser166Arg)
c.*575C>A (n.*575C>A)
Xg.48905229C>ACA412895446SLC35A2c.680G>T (p.Ser227Ile)
c.355-337G>T (n.355-337G>T)
c.427-337G>T (n.427-337G>T)
c.242G>T
c.464G>T (p.Ser155Ile)
c.764G>T (p.Ser255Ile)
c.719G>T (p.Ser240Ile)
c.424+1163G>T
c.497G>T (p.Ser166Ile)
c.*574G>T (n.*574G>T)
 gnomAD v4
Xg.48905229C>GCA412895447SLC35A2c.680G>C (p.Ser227Thr)
c.355-337G>C (n.355-337G>C)
c.427-337G>C (n.427-337G>C)
c.242G>C
c.464G>C (p.Ser155Thr)
c.764G>C (p.Ser255Thr)
c.719G>C (p.Ser240Thr)
c.424+1163G>C
c.497G>C (p.Ser166Thr)
c.*574G>C (n.*574G>C)
Xg.48905229C>TCA412895448SLC35A2c.680G>A (p.Ser227Asn)
c.355-337G>A (n.355-337G>A)
c.427-337G>A (n.427-337G>A)
c.242G>A
c.464G>A (p.Ser155Asn)
c.764G>A (p.Ser255Asn)
c.719G>A (p.Ser240Asn)
c.424+1163G>A
c.497G>A (p.Ser166Asn)
c.*574G>A (n.*574G>A)
Xg.48905230T>ACA412895449SLC35A2c.679A>T (p.Ser227Cys)
c.355-338A>T (n.355-338A>T)
c.427-338A>T (n.427-338A>T)
c.241A>T
c.463A>T (p.Ser155Cys)
c.763A>T (p.Ser255Cys)
c.718A>T (p.Ser240Cys)
c.424+1162A>T
c.496A>T (p.Ser166Cys)
c.*573A>T (n.*573A>T)
Xg.48905230T>CCA412895450SLC35A2c.679A>G (p.Ser227Gly)
c.355-338A>G (n.355-338A>G)
c.427-338A>G (n.427-338A>G)
c.241A>G
c.463A>G (p.Ser155Gly)
c.763A>G (p.Ser255Gly)
c.718A>G (p.Ser240Gly)
c.424+1162A>G
c.496A>G (p.Ser166Gly)
c.*573A>G (n.*573A>G)
Xg.48905230T>GCA412895451SLC35A2c.679A>C (p.Ser227Arg)
c.355-338A>C (n.355-338A>C)
c.427-338A>C (n.427-338A>C)
c.241A>C
c.463A>C (p.Ser155Arg)
c.763A>C (p.Ser255Arg)
c.718A>C (p.Ser240Arg)
c.424+1162A>C
c.496A>C (p.Ser166Arg)
c.*573A>C (n.*573A>C)
 dbSNP
Xg.48905230T=CA2428428905SLC35A2c.679A= (p.Ser227=)
c.355-338A= (n.355-338A=)
c.427-338A= (n.427-338A=)
c.241A=
c.463A= (p.Ser155=)
c.763A= (p.Ser255=)
c.718A= (p.Ser240=)
c.424+1162A=
c.496A= (p.Ser166=)
c.*573A= (n.*573A=)
Xg.48905231G>ACA516360120SLC35A2c.678C>T (p.Gly226=)
c.355-339C>T (n.355-339C>T)
c.427-339C>T (n.427-339C>T)
c.240C>T
c.462C>T (p.Gly154=)
c.762C>T (p.Gly254=)
c.717C>T (p.Gly239=)
c.424+1161C>T
c.495C>T (p.Gly165=)
c.*572C>T (n.*572C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905231G>CCA516360118SLC35A2c.678C>G (p.Gly226=)
c.355-339C>G (n.355-339C>G)
c.427-339C>G (n.427-339C>G)
c.240C>G
c.462C>G (p.Gly154=)
c.762C>G (p.Gly254=)
c.717C>G (p.Gly239=)
c.424+1161C>G
c.495C>G (p.Gly165=)
c.*572C>G (n.*572C>G)
Xg.48905231G=CA2428428906SLC35A2c.678C= (p.Gly226=)
c.355-339C= (n.355-339C=)
c.427-339C= (n.427-339C=)
c.240C=
c.462C= (p.Gly154=)
c.762C= (p.Gly254=)
c.717C= (p.Gly239=)
c.424+1161C=
c.495C= (p.Gly165=)
c.*572C= (n.*572C=)
Xg.48905231G>TCA516360116SLC35A2c.678C>A (p.Gly226=)
c.355-339C>A (n.355-339C>A)
c.427-339C>A (n.427-339C>A)
c.240C>A
c.462C>A (p.Gly154=)
c.762C>A (p.Gly254=)
c.717C>A (p.Gly239=)
c.424+1161C>A
c.495C>A (p.Gly165=)
c.*572C>A (n.*572C>A)
Xg.48905232C>ACA412895452SLC35A2c.677G>T (p.Gly226Val)
c.355-340G>T (n.355-340G>T)
c.427-340G>T (n.427-340G>T)
c.239G>T
c.461G>T (p.Gly154Val)
c.761G>T (p.Gly254Val)
c.716G>T (p.Gly239Val)
c.424+1160G>T
c.494G>T (p.Gly165Val)
c.*571G>T (n.*571G>T)
Xg.48905232C>GCA412895453SLC35A2c.677G>C (p.Gly226Ala)
c.355-340G>C (n.355-340G>C)
c.427-340G>C (n.427-340G>C)
c.239G>C
c.461G>C (p.Gly154Ala)
c.761G>C (p.Gly254Ala)
c.716G>C (p.Gly239Ala)
c.424+1160G>C
c.494G>C (p.Gly165Ala)
c.*571G>C (n.*571G>C)
Xg.48905232C>TCA412895454SLC35A2c.677G>A (p.Gly226Asp)
c.355-340G>A (n.355-340G>A)
c.427-340G>A (n.427-340G>A)
c.239G>A
c.461G>A (p.Gly154Asp)
c.761G>A (p.Gly254Asp)
c.716G>A (p.Gly239Asp)
c.424+1160G>A
c.494G>A (p.Gly165Asp)
c.*571G>A (n.*571G>A)
Xg.48905233C>ACA412895456SLC35A2c.676G>T (p.Gly226Cys)
c.355-341G>T (n.355-341G>T)
c.427-341G>T (n.427-341G>T)
c.238G>T
c.460G>T (p.Gly154Cys)
c.760G>T (p.Gly254Cys)
c.715G>T (p.Gly239Cys)
c.424+1159G>T
c.493G>T (p.Gly165Cys)
c.*570G>T (n.*570G>T)
Xg.48905233C>GCA412895457SLC35A2c.676G>C (p.Gly226Arg)
c.355-341G>C (n.355-341G>C)
c.427-341G>C (n.427-341G>C)
c.238G>C
c.460G>C (p.Gly154Arg)
c.760G>C (p.Gly254Arg)
c.715G>C (p.Gly239Arg)
c.424+1159G>C
c.493G>C (p.Gly165Arg)
c.*570G>C (n.*570G>C)
Xg.48905233C>TCA412895455SLC35A2c.676G>A (p.Gly226Ser)
c.355-341G>A (n.355-341G>A)
c.427-341G>A (n.427-341G>A)
c.238G>A
c.460G>A (p.Gly154Ser)
c.760G>A (p.Gly254Ser)
c.715G>A (p.Gly239Ser)
c.424+1159G>A
c.493G>A (p.Gly165Ser)
c.*570G>A (n.*570G>A)

Number of alleles fetched