| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48905133_48906105delinsGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAA | CA2428428880 | SLC35A2 | c.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 | |
| X | g.48905137_48906108del | CA16616606 | SLC35A2 | c.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 |
| X | g.48905474_48905476delinsGTA | CA2428428982 | SLC35A2 | c.433_435delinsTAC (p.Tyr145=) c.355-584_355-582delinsTAC (n.355-584_355-582delinsTAC) c.427-584_427-582delinsTAC (n.427-584_427-582delinsTAC) c.212-217_212-215delinsTAC c.217_219delinsTAC (p.Tyr73=) c.517_519delinsTAC (p.Tyr173=) c.472_474delinsTAC (p.Tyr158=) c.*53_*55delinsTAC (n.*53_*55delinsTAC) c.394_396delinsTAC (p.Tyr132=) c.424+916_424+918delinsTAC c.250_252delinsTAC (p.Tyr84=) c.*327_*329delinsTAC (n.*327_*329delinsTAC) | |
| X | g.48905476_48905477del | CA163125 | SLC35A2 | c.433_434del (p.Tyr145ProfsTer?) c.355-584_355-583del (n.355-584_355-583del) c.427-584_427-583del (n.427-584_427-583del) c.212-217_212-216del c.217_218del (p.Tyr73ProfsTer?) c.517_518del (p.Tyr173ProfsTer?) c.472_473del (p.Tyr158ProfsTer?) c.*53_*54del (n.*53_*54del) c.394_395del (p.Tyr132ProfsTer?) c.424+916_424+917del c.250_251del (p.Tyr84ProfsTer?) c.*327_*328del (n.*327_*328del) | ClinVar dbSNP |
| X | g.48905476A>C | CA412895980 | SLC35A2 | c.433T>G (p.Tyr145Asp) c.355-584T>G (n.355-584T>G) c.427-584T>G (n.427-584T>G) c.212-217T>G c.217T>G (p.Tyr73Asp) c.517T>G (p.Tyr173Asp) c.472T>G (p.Tyr158Asp) c.*53T>G (n.*53T>G) c.394T>G (p.Tyr132Asp) c.424+916T>G c.250T>G (p.Tyr84Asp) c.*327T>G (n.*327T>G) | |
| X | g.48905476A>G | CA412895979 | SLC35A2 | c.433T>C (p.Tyr145His) c.355-584T>C (n.355-584T>C) c.427-584T>C (n.427-584T>C) c.212-217T>C c.217T>C (p.Tyr73His) c.517T>C (p.Tyr173His) c.472T>C (p.Tyr158His) c.*53T>C (n.*53T>C) c.394T>C (p.Tyr132His) c.424+916T>C c.250T>C (p.Tyr84His) c.*327T>C (n.*327T>C) | |
| X | g.48905476A>T | CA412895978 | SLC35A2 | c.433T>A (p.Tyr145Asn) c.355-584T>A (n.355-584T>A) c.427-584T>A (n.427-584T>A) c.212-217T>A c.217T>A (p.Tyr73Asn) c.517T>A (p.Tyr173Asn) c.472T>A (p.Tyr158Asn) c.*53T>A (n.*53T>A) c.394T>A (p.Tyr132Asn) c.424+916T>A c.250T>A (p.Tyr84Asn) c.*327T>A (n.*327T>A) | |
| X | g.48905477T>A | CA516360146 | SLC35A2 | c.432A>T (p.Thr144=) c.355-585A>T (n.355-585A>T) c.427-585A>T (n.427-585A>T) c.212-218A>T c.216A>T (p.Thr72=) c.516A>T (p.Thr172=) c.471A>T (p.Thr157=) c.*52A>T (n.*52A>T) c.393A>T (p.Thr131=) c.424+915A>T c.249A>T (p.Thr83=) c.*326A>T (n.*326A>T) | |
| X | g.48905477T>C | CA516360147 | SLC35A2 | c.432A>G (p.Thr144=) c.355-585A>G (n.355-585A>G) c.427-585A>G (n.427-585A>G) c.212-218A>G c.216A>G (p.Thr72=) c.516A>G (p.Thr172=) c.471A>G (p.Thr157=) c.*52A>G (n.*52A>G) c.393A>G (p.Thr131=) c.424+915A>G c.249A>G (p.Thr83=) c.*326A>G (n.*326A>G) | |
| X | g.48905477T>G | CA516360148 | SLC35A2 | c.432A>C (p.Thr144=) c.355-585A>C (n.355-585A>C) c.427-585A>C (n.427-585A>C) c.212-218A>C c.216A>C (p.Thr72=) c.516A>C (p.Thr172=) c.471A>C (p.Thr157=) c.*52A>C (n.*52A>C) c.393A>C (p.Thr131=) c.424+915A>C c.249A>C (p.Thr83=) c.*326A>C (n.*326A>C) | |
| X | g.48905478del | CA2579602661 | SLC35A2 | c.431del (p.Thr144AsnfsTer4) c.355-586del (n.355-586del) c.427-586del (n.427-586del) c.212-219del c.215del (p.Thr72AsnfsTer4) c.515del (p.Thr172AsnfsTer4) c.470del (p.Thr157AsnfsTer4) c.*51del (n.*51del) c.392del (p.Thr131AsnfsTer4) c.424+914del c.248del (p.Thr83AsnfsTer4) c.*325del (n.*325del) | |
| X | g.48905478G>A | CA412895981 | SLC35A2 | c.431C>T (p.Thr144Ile) c.355-586C>T (n.355-586C>T) c.427-586C>T (n.427-586C>T) c.212-219C>T c.215C>T (p.Thr72Ile) c.515C>T (p.Thr172Ile) c.470C>T (p.Thr157Ile) c.*51C>T (n.*51C>T) c.392C>T (p.Thr131Ile) c.424+914C>T c.248C>T (p.Thr83Ile) c.*325C>T (n.*325C>T) | gnomAD v4 |
| X | g.48905478G>C | CA412895983 | SLC35A2 | c.431C>G (p.Thr144Arg) c.355-586C>G (n.355-586C>G) c.427-586C>G (n.427-586C>G) c.212-219C>G c.215C>G (p.Thr72Arg) c.515C>G (p.Thr172Arg) c.470C>G (p.Thr157Arg) c.*51C>G (n.*51C>G) c.392C>G (p.Thr131Arg) c.424+914C>G c.248C>G (p.Thr83Arg) c.*325C>G (n.*325C>G) | |
| X | g.48905478G>T | CA412895982 | SLC35A2 | c.431C>A (p.Thr144Lys) c.355-586C>A (n.355-586C>A) c.427-586C>A (n.427-586C>A) c.212-219C>A c.215C>A (p.Thr72Lys) c.515C>A (p.Thr172Lys) c.470C>A (p.Thr157Lys) c.*51C>A (n.*51C>A) c.392C>A (p.Thr131Lys) c.424+914C>A c.248C>A (p.Thr83Lys) c.*325C>A (n.*325C>A) | |
| X | g.48905479T>A | CA412895984 | SLC35A2 | c.430A>T (p.Thr144Ser) c.355-587A>T (n.355-587A>T) c.427-587A>T (n.427-587A>T) c.212-220A>T c.214A>T (p.Thr72Ser) c.514A>T (p.Thr172Ser) c.469A>T (p.Thr157Ser) c.*50A>T (n.*50A>T) c.391A>T (p.Thr131Ser) c.424+913A>T c.247A>T (p.Thr83Ser) c.*324A>T (n.*324A>T) | |
| X | g.48905479T>C | CA412895986 | SLC35A2 | c.430A>G (p.Thr144Ala) c.355-587A>G (n.355-587A>G) c.427-587A>G (n.427-587A>G) c.212-220A>G c.214A>G (p.Thr72Ala) c.514A>G (p.Thr172Ala) c.469A>G (p.Thr157Ala) c.*50A>G (n.*50A>G) c.391A>G (p.Thr131Ala) c.424+913A>G c.247A>G (p.Thr83Ala) c.*324A>G (n.*324A>G) | |
| X | g.48905479T>G | CA412895985 | SLC35A2 | c.430A>C (p.Thr144Pro) c.355-587A>C (n.355-587A>C) c.427-587A>C (n.427-587A>C) c.212-220A>C c.214A>C (p.Thr72Pro) c.514A>C (p.Thr172Pro) c.469A>C (p.Thr157Pro) c.*50A>C (n.*50A>C) c.391A>C (p.Thr131Pro) c.424+913A>C c.247A>C (p.Thr83Pro) c.*324A>C (n.*324A>C) | |
| X | g.48905480C>A | CA516360151 | SLC35A2 | c.429G>T (p.Val143=) c.355-588G>T (n.355-588G>T) c.427-588G>T (n.427-588G>T) c.212-221G>T c.213G>T (p.Val71=) c.513G>T (p.Val171=) c.468G>T (p.Val156=) c.*49G>T (n.*49G>T) c.390G>T (p.Val130=) c.424+912G>T c.246G>T (p.Val82=) c.*323G>T (n.*323G>T) | gnomAD v4 |
| X | g.48905480C= | CA2428428983 | SLC35A2 | c.429G= (p.Val143=) c.355-588G= (n.355-588G=) c.427-588G= (n.427-588G=) c.212-221G= c.213G= (p.Val71=) c.513G= (p.Val171=) c.468G= (p.Val156=) c.*49G= (n.*49G=) c.390G= (p.Val130=) c.424+912G= c.246G= (p.Val82=) c.*323G= (n.*323G=) | |
| X | g.48905480C>G | CA516360152 | SLC35A2 | c.429G>C (p.Val143=) c.355-588G>C (n.355-588G>C) c.427-588G>C (n.427-588G>C) c.212-221G>C c.213G>C (p.Val71=) c.513G>C (p.Val171=) c.468G>C (p.Val156=) c.*49G>C (n.*49G>C) c.390G>C (p.Val130=) c.424+912G>C c.246G>C (p.Val82=) c.*323G>C (n.*323G>C) | |
| X | g.48905480C>T | CA10406131 | SLC35A2 | c.429G>A (p.Val143=) c.355-588G>A (n.355-588G>A) c.427-588G>A (n.427-588G>A) c.212-221G>A c.213G>A (p.Val71=) c.513G>A (p.Val171=) c.468G>A (p.Val156=) c.*49G>A (n.*49G>A) c.390G>A (p.Val130=) c.424+912G>A c.246G>A (p.Val82=) c.*323G>A (n.*323G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905481A>C | CA412895987 | SLC35A2 | c.428T>G (p.Val143Gly) c.355-589T>G (n.355-589T>G) c.427-589T>G (n.427-589T>G) c.212-222T>G c.212T>G (p.Val71Gly) c.512T>G (p.Val171Gly) c.467T>G (p.Val156Gly) c.*48T>G (n.*48T>G) c.389T>G (p.Val130Gly) c.424+911T>G c.245T>G (p.Val82Gly) c.*322T>G (n.*322T>G) | |
| X | g.48905481A>G | CA412895988 | SLC35A2 | c.428T>C (p.Val143Ala) c.355-589T>C (n.355-589T>C) c.427-589T>C (n.427-589T>C) c.212-222T>C c.212T>C (p.Val71Ala) c.512T>C (p.Val171Ala) c.467T>C (p.Val156Ala) c.*48T>C (n.*48T>C) c.389T>C (p.Val130Ala) c.424+911T>C c.245T>C (p.Val82Ala) c.*322T>C (n.*322T>C) | gnomAD v4 |
| X | g.48905481A>T | CA412895989 | SLC35A2 | c.428T>A (p.Val143Glu) c.355-589T>A (n.355-589T>A) c.427-589T>A (n.427-589T>A) c.212-222T>A c.212T>A (p.Val71Glu) c.512T>A (p.Val171Glu) c.467T>A (p.Val156Glu) c.*48T>A (n.*48T>A) c.389T>A (p.Val130Glu) c.424+911T>A c.245T>A (p.Val82Glu) c.*322T>A (n.*322T>A) | |
| X | g.48905482C>A | CA412895990 | SLC35A2 | c.427G>T (p.Val143Leu) c.355-590G>T (n.355-590G>T) c.427-590G>T (n.427-590G>T) c.212-223G>T c.211G>T (p.Val71Leu) c.511G>T (p.Val171Leu) c.466G>T (p.Val156Leu) c.*47G>T (n.*47G>T) c.388G>T (p.Val130Leu) c.424+910G>T c.244G>T (p.Val82Leu) c.*321G>T (n.*321G>T) | |
| X | g.48905482C>G | CA412895991 | SLC35A2 | c.427G>C (p.Val143Leu) c.355-590G>C (n.355-590G>C) c.427-590G>C (n.427-590G>C) c.212-223G>C c.211G>C (p.Val71Leu) c.511G>C (p.Val171Leu) c.466G>C (p.Val156Leu) c.*47G>C (n.*47G>C) c.388G>C (p.Val130Leu) c.424+910G>C c.244G>C (p.Val82Leu) c.*321G>C (n.*321G>C) | |
| X | g.48905482C>T | CA412895992 | SLC35A2 | c.427G>A (p.Val143Met) c.355-590G>A (n.355-590G>A) c.427-590G>A (n.427-590G>A) c.212-223G>A c.211G>A (p.Val71Met) c.511G>A (p.Val171Met) c.466G>A (p.Val156Met) c.*47G>A (n.*47G>A) c.388G>A (p.Val130Met) c.424+910G>A c.244G>A (p.Val82Met) c.*321G>A (n.*321G>A) | |
| X | g.48905483C>A | CA412895993 | SLC35A2 | c.427-1G>T (n.427-1G>T) c.355-591G>T (n.355-591G>T) c.427-591G>T (n.427-591G>T) c.212-224G>T c.211-1G>T (n.211-1G>T) c.511-1G>T (n.511-1G>T) c.466-1G>T (n.466-1G>T) c.*47-1G>T (n.*47-1G>T) c.388-1G>T (n.388-1G>T) c.424+909G>T c.244-1G>T (n.244-1G>T) c.*321-1G>T (n.*321-1G>T) | |
| X | g.48905483C>G | CA412895994 | SLC35A2 | c.427-1G>C (n.427-1G>C) c.355-591G>C (n.355-591G>C) c.427-591G>C (n.427-591G>C) c.212-224G>C c.211-1G>C (n.211-1G>C) c.511-1G>C (n.511-1G>C) c.466-1G>C (n.466-1G>C) c.*47-1G>C (n.*47-1G>C) c.388-1G>C (n.388-1G>C) c.424+909G>C c.244-1G>C (n.244-1G>C) c.*321-1G>C (n.*321-1G>C) | |
| X | g.48905483C>T | CA412895995 | SLC35A2 | c.427-1G>A (n.427-1G>A) c.355-591G>A (n.355-591G>A) c.427-591G>A (n.427-591G>A) c.212-224G>A c.211-1G>A (n.211-1G>A) c.511-1G>A (n.511-1G>A) c.466-1G>A (n.466-1G>A) c.*47-1G>A (n.*47-1G>A) c.388-1G>A (n.388-1G>A) c.424+909G>A c.244-1G>A (n.244-1G>A) c.*321-1G>A (n.*321-1G>A) | |
| X | g.48905484T>A | CA412895996 | SLC35A2 | c.427-2A>T (n.427-2A>T) c.355-592A>T (n.355-592A>T) c.427-592A>T (n.427-592A>T) c.212-225A>T c.211-2A>T (n.211-2A>T) c.511-2A>T (n.511-2A>T) c.466-2A>T (n.466-2A>T) c.*47-2A>T (n.*47-2A>T) c.388-2A>T (n.388-2A>T) c.424+908A>T c.244-2A>T (n.244-2A>T) c.*321-2A>T (n.*321-2A>T) | |
| X | g.48905484T>C | CA412895997 | SLC35A2 | c.427-2A>G (n.427-2A>G) c.355-592A>G (n.355-592A>G) c.427-592A>G (n.427-592A>G) c.212-225A>G c.211-2A>G (n.211-2A>G) c.511-2A>G (n.511-2A>G) c.466-2A>G (n.466-2A>G) c.*47-2A>G (n.*47-2A>G) c.388-2A>G (n.388-2A>G) c.424+908A>G c.244-2A>G (n.244-2A>G) c.*321-2A>G (n.*321-2A>G) | gnomAD v4 |
| X | g.48905484T>G | CA412895998 | SLC35A2 | c.427-2A>C (n.427-2A>C) c.355-592A>C (n.355-592A>C) c.427-592A>C (n.427-592A>C) c.212-225A>C c.211-2A>C (n.211-2A>C) c.511-2A>C (n.511-2A>C) c.466-2A>C (n.466-2A>C) c.*47-2A>C (n.*47-2A>C) c.388-2A>C (n.388-2A>C) c.424+908A>C c.244-2A>C (n.244-2A>C) c.*321-2A>C (n.*321-2A>C) | |
| X | g.48905486C>A | CA2693659768 | SLC35A2 | c.427-4G>T (n.427-4G>T) c.355-594G>T (n.355-594G>T) c.427-594G>T (n.427-594G>T) c.212-227G>T c.211-4G>T (n.211-4G>T) c.511-4G>T (n.511-4G>T) c.466-4G>T (n.466-4G>T) c.*47-4G>T (n.*47-4G>T) c.388-4G>T (n.388-4G>T) c.424+906G>T c.244-4G>T (n.244-4G>T) c.*321-4G>T (n.*321-4G>T) | gnomAD v4 |
| X | g.48905486C= | CA2428428984 | SLC35A2 | c.427-4G= (n.427-4G=) c.355-594G= (n.355-594G=) c.427-594G= (n.427-594G=) c.212-227G= c.211-4G= (n.211-4G=) c.511-4G= (n.511-4G=) c.466-4G= (n.466-4G=) c.*47-4G= (n.*47-4G=) c.388-4G= (n.388-4G=) c.424+906G= c.244-4G= (n.244-4G=) c.*321-4G= (n.*321-4G=) | |
| X | g.48905486C>T | CA10406132 | SLC35A2 | c.427-4G>A (n.427-4G>A) c.355-594G>A (n.355-594G>A) c.427-594G>A (n.427-594G>A) c.212-227G>A c.211-4G>A (n.211-4G>A) c.511-4G>A (n.511-4G>A) c.466-4G>A (n.466-4G>A) c.*47-4G>A (n.*47-4G>A) c.388-4G>A (n.388-4G>A) c.424+906G>A c.244-4G>A (n.244-4G>A) c.*321-4G>A (n.*321-4G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.48905487G>A | CA641902151 | SLC35A2 | c.427-5C>T (n.427-5C>T) c.355-595C>T (n.355-595C>T) c.427-595C>T (n.427-595C>T) c.212-228C>T c.211-5C>T (n.211-5C>T) c.511-5C>T (n.511-5C>T) c.466-5C>T (n.466-5C>T) c.*47-5C>T (n.*47-5C>T) c.388-5C>T (n.388-5C>T) c.424+905C>T c.244-5C>T (n.244-5C>T) c.*321-5C>T (n.*321-5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905487G= | CA2428428985 | SLC35A2 | c.427-5C= (n.427-5C=) c.355-595C= (n.355-595C=) c.427-595C= (n.427-595C=) c.212-228C= c.211-5C= (n.211-5C=) c.511-5C= (n.511-5C=) c.466-5C= (n.466-5C=) c.*47-5C= (n.*47-5C=) c.388-5C= (n.388-5C=) c.424+905C= c.244-5C= (n.244-5C=) c.*321-5C= (n.*321-5C=) | |
| X | g.48905489G>C | CA2557722797 | SLC35A2 | c.427-7C>G (n.427-7C>G) c.355-597C>G (n.355-597C>G) c.427-597C>G (n.427-597C>G) c.212-230C>G c.211-7C>G (n.211-7C>G) c.511-7C>G (n.511-7C>G) c.466-7C>G (n.466-7C>G) c.*47-7C>G (n.*47-7C>G) c.388-7C>G (n.388-7C>G) c.424+903C>G c.244-7C>G (n.244-7C>G) c.*321-7C>G (n.*321-7C>G) | |
| X | g.48905490T>A | CA2559658251 | SLC35A2 | c.427-8A>T (n.427-8A>T) c.355-598A>T (n.355-598A>T) c.427-598A>T (n.427-598A>T) c.212-231A>T c.211-8A>T (n.211-8A>T) c.511-8A>T (n.511-8A>T) c.466-8A>T (n.466-8A>T) c.*47-8A>T (n.*47-8A>T) c.388-8A>T (n.388-8A>T) c.424+902A>T c.244-8A>T (n.244-8A>T) c.*321-8A>T (n.*321-8A>T) | |
| X | g.48905490T>C | CA2548998479 | SLC35A2 | c.427-8A>G (n.427-8A>G) c.355-598A>G (n.355-598A>G) c.427-598A>G (n.427-598A>G) c.212-231A>G c.211-8A>G (n.211-8A>G) c.511-8A>G (n.511-8A>G) c.466-8A>G (n.466-8A>G) c.*47-8A>G (n.*47-8A>G) c.388-8A>G (n.388-8A>G) c.424+902A>G c.244-8A>G (n.244-8A>G) c.*321-8A>G (n.*321-8A>G) | |
| X | g.48905491G>A | CA2693659774 | SLC35A2 | c.427-9C>T (n.427-9C>T) c.355-599C>T (n.355-599C>T) c.427-599C>T (n.427-599C>T) c.212-232C>T c.211-9C>T (n.211-9C>T) c.511-9C>T (n.511-9C>T) c.466-9C>T (n.466-9C>T) c.*47-9C>T (n.*47-9C>T) c.388-9C>T (n.388-9C>T) c.424+901C>T c.244-9C>T (n.244-9C>T) c.*321-9C>T (n.*321-9C>T) | gnomAD v4 |
| X | g.48905491G>T | CA2693659776 | SLC35A2 | c.427-9C>A (n.427-9C>A) c.355-599C>A (n.355-599C>A) c.427-599C>A (n.427-599C>A) c.212-232C>A c.211-9C>A (n.211-9C>A) c.511-9C>A (n.511-9C>A) c.466-9C>A (n.466-9C>A) c.*47-9C>A (n.*47-9C>A) c.388-9C>A (n.388-9C>A) c.424+901C>A c.244-9C>A (n.244-9C>A) c.*321-9C>A (n.*321-9C>A) | gnomAD v4 |
| X | g.48905492G>A | CA2693659777 | SLC35A2 | c.427-10C>T (n.427-10C>T) c.355-600C>T (n.355-600C>T) c.427-600C>T (n.427-600C>T) c.212-233C>T c.211-10C>T (n.211-10C>T) c.511-10C>T (n.511-10C>T) c.466-10C>T (n.466-10C>T) c.*47-10C>T (n.*47-10C>T) c.388-10C>T (n.388-10C>T) c.424+900C>T c.244-10C>T (n.244-10C>T) c.*321-10C>T (n.*321-10C>T) | gnomAD v4 |
| X | g.48905495C>A | CA2693659780 | SLC35A2 | c.427-13G>T (n.427-13G>T) c.355-603G>T (n.355-603G>T) c.427-603G>T (n.427-603G>T) c.212-236G>T c.211-13G>T (n.211-13G>T) c.511-13G>T (n.511-13G>T) c.466-13G>T (n.466-13G>T) c.*47-13G>T (n.*47-13G>T) c.388-13G>T (n.388-13G>T) c.424+897G>T c.244-13G>T (n.244-13G>T) c.*321-13G>T (n.*321-13G>T) | gnomAD v4 |
| X | g.48905495C= | CA2428428986 | SLC35A2 | c.427-13G= (n.427-13G=) c.355-603G= (n.355-603G=) c.427-603G= (n.427-603G=) c.212-236G= c.211-13G= (n.211-13G=) c.511-13G= (n.511-13G=) c.466-13G= (n.466-13G=) c.*47-13G= (n.*47-13G=) c.388-13G= (n.388-13G=) c.424+897G= c.244-13G= (n.244-13G=) c.*321-13G= (n.*321-13G=) | |
| X | g.48905495C>T | CA10406133 | SLC35A2 | c.427-13G>A (n.427-13G>A) c.355-603G>A (n.355-603G>A) c.427-603G>A (n.427-603G>A) c.212-236G>A c.211-13G>A (n.211-13G>A) c.511-13G>A (n.511-13G>A) c.466-13G>A (n.466-13G>A) c.*47-13G>A (n.*47-13G>A) c.388-13G>A (n.388-13G>A) c.424+897G>A c.244-13G>A (n.244-13G>A) c.*321-13G>A (n.*321-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905495_48905496del | CA2521243826 | SLC35A2 | c.427-14_427-13del (n.427-14_427-13del) c.355-604_355-603del (n.355-604_355-603del) c.427-604_427-603del (n.427-604_427-603del) c.212-237_212-236del c.211-14_211-13del (n.211-14_211-13del) c.511-14_511-13del (n.511-14_511-13del) c.466-14_466-13del (n.466-14_466-13del) c.*47-14_*47-13del (n.*47-14_*47-13del) c.388-14_388-13del (n.388-14_388-13del) c.424+896_424+897del c.244-14_244-13del (n.244-14_244-13del) c.*321-14_*321-13del (n.*321-14_*321-13del) | |
| X | g.48905496G>A | CA10406134 | SLC35A2 | c.427-14C>T (n.427-14C>T) c.355-604C>T (n.355-604C>T) c.427-604C>T (n.427-604C>T) c.212-237C>T c.211-14C>T (n.211-14C>T) c.511-14C>T (n.511-14C>T) c.466-14C>T (n.466-14C>T) c.*47-14C>T (n.*47-14C>T) c.388-14C>T (n.388-14C>T) c.424+896C>T c.244-14C>T (n.244-14C>T) c.*321-14C>T (n.*321-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905496G= | CA2428428987 | SLC35A2 | c.427-14C= (n.427-14C=) c.355-604C= (n.355-604C=) c.427-604C= (n.427-604C=) c.212-237C= c.211-14C= (n.211-14C=) c.511-14C= (n.511-14C=) c.466-14C= (n.466-14C=) c.*47-14C= (n.*47-14C=) c.388-14C= (n.388-14C=) c.424+896C= c.244-14C= (n.244-14C=) c.*321-14C= (n.*321-14C=) |