WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.48905269_48905272delinsCGGA | CA2428428912 | SLC35A2 | c.637_640delinsTCCG (p.Ser213=) c.355-380_355-377delinsTCCG (n.355-380_355-377delinsTCCG) c.427-380_427-377delinsTCCG (n.427-380_427-377delinsTCCG) c.212-13_212-10delinsTCCG c.421_424delinsTCCG (p.Ser141=) c.721_724delinsTCCG (p.Ser241=) c.676_679delinsTCCG (p.Ser226=) c.424+1120_424+1123delinsTCCG c.454_457delinsTCCG (p.Ser152=) c.*531_*534delinsTCCG (n.*531_*534delinsTCCG) | |
| X | g.48905274_48905276del | CA16043321 | SLC35A2 | c.637_639del (p.Ser213del) c.355-380_355-378del (n.355-380_355-378del) c.427-380_427-378del (n.427-380_427-378del) c.212-13_212-11del c.421_423del (p.Ser141del) c.721_723del (p.Ser241del) c.676_678del (p.Ser226del) c.424+1120_424+1122del c.454_456del (p.Ser152del) c.*531_*533del (n.*531_*533del) | ClinVar dbSNP |
| X | g.48905271G>A | CA163127 | SLC35A2 | c.638C>T (p.Ser213Phe) c.355-379C>T (n.355-379C>T) c.427-379C>T (n.427-379C>T) c.212-12C>T c.422C>T (p.Ser141Phe) c.722C>T (p.Ser241Phe) c.677C>T (p.Ser226Phe) c.424+1121C>T c.455C>T (p.Ser152Phe) c.*532C>T (n.*532C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.48905271G>C | CA412895543 | SLC35A2 | c.638C>G (p.Ser213Cys) c.355-379C>G (n.355-379C>G) c.427-379C>G (n.427-379C>G) c.212-12C>G c.422C>G (p.Ser141Cys) c.722C>G (p.Ser241Cys) c.677C>G (p.Ser226Cys) c.424+1121C>G c.455C>G (p.Ser152Cys) c.*532C>G (n.*532C>G) | |
| X | g.48905271G= | CA2428428914 | SLC35A2 | c.638C= (p.Ser213=) c.355-379C= (n.355-379C=) c.427-379C= (n.427-379C=) c.212-12C= c.422C= (p.Ser141=) c.722C= (p.Ser241=) c.677C= (p.Ser226=) c.424+1121C= c.455C= (p.Ser152=) c.*532C= (n.*532C=) | |
| X | g.48905271G>T | CA412895544 | SLC35A2 | c.638C>A (p.Ser213Tyr) c.355-379C>A (n.355-379C>A) c.427-379C>A (n.427-379C>A) c.212-12C>A c.422C>A (p.Ser141Tyr) c.722C>A (p.Ser241Tyr) c.677C>A (p.Ser226Tyr) c.424+1121C>A c.455C>A (p.Ser152Tyr) c.*532C>A (n.*532C>A) | gnomAD v4 |
| X | g.48905272A>C | CA412895546 | SLC35A2 | c.637T>G (p.Ser213Ala) c.355-380T>G (n.355-380T>G) c.427-380T>G (n.427-380T>G) c.212-13T>G c.421T>G (p.Ser141Ala) c.721T>G (p.Ser241Ala) c.676T>G (p.Ser226Ala) c.424+1120T>G c.454T>G (p.Ser152Ala) c.*531T>G (n.*531T>G) | |
| X | g.48905272A>G | CA412895547 | SLC35A2 | c.637T>C (p.Ser213Pro) c.355-380T>C (n.355-380T>C) c.427-380T>C (n.427-380T>C) c.212-13T>C c.421T>C (p.Ser141Pro) c.721T>C (p.Ser241Pro) c.676T>C (p.Ser226Pro) c.424+1120T>C c.454T>C (p.Ser152Pro) c.*531T>C (n.*531T>C) | |
| X | g.48905272A>T | CA412895545 | SLC35A2 | c.637T>A (p.Ser213Thr) c.355-380T>A (n.355-380T>A) c.427-380T>A (n.427-380T>A) c.212-13T>A c.421T>A (p.Ser141Thr) c.721T>A (p.Ser241Thr) c.676T>A (p.Ser226Thr) c.424+1120T>A c.454T>A (p.Ser152Thr) c.*531T>A (n.*531T>A) | |
| X | g.48905273G>A | CA516360188 | SLC35A2 | c.636C>T (p.Ser212=) c.355-381C>T (n.355-381C>T) c.427-381C>T (n.427-381C>T) c.212-14C>T c.420C>T (p.Ser140=) c.720C>T (p.Ser240=) c.675C>T (p.Ser225=) c.424+1119C>T c.453C>T (p.Ser151=) c.*530C>T (n.*530C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48905273G>C | CA516360189 | SLC35A2 | c.636C>G (p.Ser212=) c.355-381C>G (n.355-381C>G) c.427-381C>G (n.427-381C>G) c.212-14C>G c.420C>G (p.Ser140=) c.720C>G (p.Ser240=) c.675C>G (p.Ser225=) c.424+1119C>G c.453C>G (p.Ser151=) c.*530C>G (n.*530C>G) | |
| X | g.48905273G= | CA2428428915 | SLC35A2 | c.636C= (p.Ser212=) c.355-381C= (n.355-381C=) c.427-381C= (n.427-381C=) c.212-14C= c.420C= (p.Ser140=) c.720C= (p.Ser240=) c.675C= (p.Ser225=) c.424+1119C= c.453C= (p.Ser151=) c.*530C= (n.*530C=) | |
| X | g.48905273G>T | CA516360190 | SLC35A2 | c.636C>A (p.Ser212=) c.355-381C>A (n.355-381C>A) c.427-381C>A (n.427-381C>A) c.212-14C>A c.420C>A (p.Ser140=) c.720C>A (p.Ser240=) c.675C>A (p.Ser225=) c.424+1119C>A c.453C>A (p.Ser151=) c.*530C>A (n.*530C>A) | |
| X | g.48905274del | CA2579602645 | SLC35A2 | c.636del (p.Ser213ProfsTer?) c.355-381del (n.355-381del) c.427-381del (n.427-381del) c.212-14del c.420del (p.Ser141ProfsTer?) c.720del (p.Ser241ProfsTer?) c.675del (p.Ser226ProfsTer?) c.424+1119del c.453del (p.Ser152ProfsTer?) c.*530del (n.*530del) | |
| X | g.48905273_48905275delinsGGA | CA2428428916 | SLC35A2 | c.634_636delinsTCC (p.Ser212=) c.355-383_355-381delinsTCC (n.355-383_355-381delinsTCC) c.427-383_427-381delinsTCC (n.427-383_427-381delinsTCC) c.212-16_212-14delinsTCC c.418_420delinsTCC (p.Ser140=) c.718_720delinsTCC (p.Ser240=) c.673_675delinsTCC (p.Ser225=) c.424+1117_424+1119delinsTCC c.451_453delinsTCC (p.Ser151=) c.*528_*530delinsTCC (n.*528_*530delinsTCC) | |
| X | g.48905274G>A | CA412895550 | SLC35A2 | c.635C>T (p.Ser212Phe) c.355-382C>T (n.355-382C>T) c.427-382C>T (n.427-382C>T) c.212-15C>T c.419C>T (p.Ser140Phe) c.719C>T (p.Ser240Phe) c.674C>T (p.Ser225Phe) c.424+1118C>T c.452C>T (p.Ser151Phe) c.*529C>T (n.*529C>T) | |
| X | g.48905274G>C | CA412895548 | SLC35A2 | c.635C>G (p.Ser212Cys) c.355-382C>G (n.355-382C>G) c.427-382C>G (n.427-382C>G) c.212-15C>G c.419C>G (p.Ser140Cys) c.719C>G (p.Ser240Cys) c.674C>G (p.Ser225Cys) c.424+1118C>G c.452C>G (p.Ser151Cys) c.*529C>G (n.*529C>G) | |
| X | g.48905274G>T | CA412895549 | SLC35A2 | c.635C>A (p.Ser212Tyr) c.355-382C>A (n.355-382C>A) c.427-382C>A (n.427-382C>A) c.212-15C>A c.419C>A (p.Ser140Tyr) c.719C>A (p.Ser240Tyr) c.674C>A (p.Ser225Tyr) c.424+1118C>A c.452C>A (p.Ser151Tyr) c.*529C>A (n.*529C>A) | |
| X | g.48905278_48905279del | CA913190356 | SLC35A2 | c.634_635del (p.Ser212LeufsTer9) c.355-383_355-382del (n.355-383_355-382del) c.427-383_427-382del (n.427-383_427-382del) c.212-16_212-15del c.418_419del (p.Ser140LeufsTer9) c.718_719del (p.Ser240LeufsTer9) c.673_674del (p.Ser225LeufsTer9) c.424+1117_424+1118del c.451_452del (p.Ser151LeufsTer9) c.*528_*529del (n.*528_*529del) | ClinVar dbSNP |
| X | g.48905275A>C | CA412895551 | SLC35A2 | c.634T>G (p.Ser212Ala) c.355-383T>G (n.355-383T>G) c.427-383T>G (n.427-383T>G) c.212-16T>G c.418T>G (p.Ser140Ala) c.718T>G (p.Ser240Ala) c.673T>G (p.Ser225Ala) c.424+1117T>G c.451T>G (p.Ser151Ala) c.*528T>G (n.*528T>G) | |
| X | g.48905275A>G | CA412895552 | SLC35A2 | c.634T>C (p.Ser212Pro) c.355-383T>C (n.355-383T>C) c.427-383T>C (n.427-383T>C) c.212-16T>C c.418T>C (p.Ser140Pro) c.718T>C (p.Ser240Pro) c.673T>C (p.Ser225Pro) c.424+1117T>C c.451T>C (p.Ser151Pro) c.*528T>C (n.*528T>C) | |
| X | g.48905275A>T | CA412895553 | SLC35A2 | c.634T>A (p.Ser212Thr) c.355-383T>A (n.355-383T>A) c.427-383T>A (n.427-383T>A) c.212-16T>A c.418T>A (p.Ser140Thr) c.718T>A (p.Ser240Thr) c.673T>A (p.Ser225Thr) c.424+1117T>A c.451T>A (p.Ser151Thr) c.*528T>A (n.*528T>A) | |
| X | g.48905276G>A | CA516360194 | SLC35A2 | c.633C>T (p.Leu211=) c.355-384C>T (n.355-384C>T) c.427-384C>T (n.427-384C>T) c.212-17C>T c.417C>T (p.Leu139=) c.717C>T (p.Leu239=) c.672C>T (p.Leu224=) c.424+1116C>T c.450C>T (p.Leu150=) c.*527C>T (n.*527C>T) | |
| X | g.48905276G>C | CA516360195 | SLC35A2 | c.633C>G (p.Leu211=) c.355-384C>G (n.355-384C>G) c.427-384C>G (n.427-384C>G) c.212-17C>G c.417C>G (p.Leu139=) c.717C>G (p.Leu239=) c.672C>G (p.Leu224=) c.424+1116C>G c.450C>G (p.Leu150=) c.*527C>G (n.*527C>G) | dbSNP gnomAD v4 |
| X | g.48905276G= | CA2428428917 | SLC35A2 | c.633C= (p.Leu211=) c.355-384C= (n.355-384C=) c.427-384C= (n.427-384C=) c.212-17C= c.417C= (p.Leu139=) c.717C= (p.Leu239=) c.672C= (p.Leu224=) c.424+1116C= c.450C= (p.Leu150=) c.*527C= (n.*527C=) | |
| X | g.48905276G>T | CA516360196 | SLC35A2 | c.633C>A (p.Leu211=) c.355-384C>A (n.355-384C>A) c.427-384C>A (n.427-384C>A) c.212-17C>A c.417C>A (p.Leu139=) c.717C>A (p.Leu239=) c.672C>A (p.Leu224=) c.424+1116C>A c.450C>A (p.Leu150=) c.*527C>A (n.*527C>A) | |
| X | g.48905277A>C | CA412895554 | SLC35A2 | c.632T>G (p.Leu211Arg) c.355-385T>G (n.355-385T>G) c.427-385T>G (n.427-385T>G) c.212-18T>G c.416T>G (p.Leu139Arg) c.716T>G (p.Leu239Arg) c.671T>G (p.Leu224Arg) c.424+1115T>G c.449T>G (p.Leu150Arg) c.*526T>G (n.*526T>G) | |
| X | g.48905277A>G | CA412895555 | SLC35A2 | c.632T>C (p.Leu211Pro) c.355-385T>C (n.355-385T>C) c.427-385T>C (n.427-385T>C) c.212-18T>C c.416T>C (p.Leu139Pro) c.716T>C (p.Leu239Pro) c.671T>C (p.Leu224Pro) c.424+1115T>C c.449T>C (p.Leu150Pro) c.*526T>C (n.*526T>C) | |
| X | g.48905277A>T | CA412895556 | SLC35A2 | c.632T>A (p.Leu211His) c.355-385T>A (n.355-385T>A) c.427-385T>A (n.427-385T>A) c.212-18T>A c.416T>A (p.Leu139His) c.716T>A (p.Leu239His) c.671T>A (p.Leu224His) c.424+1115T>A c.449T>A (p.Leu150His) c.*526T>A (n.*526T>A) | gnomAD v4 |
| X | g.48905278G>A | CA412895557 | SLC35A2 | c.631C>T (p.Leu211Phe) c.355-386C>T (n.355-386C>T) c.427-386C>T (n.427-386C>T) c.212-19C>T c.415C>T (p.Leu139Phe) c.715C>T (p.Leu239Phe) c.670C>T (p.Leu224Phe) c.424+1114C>T c.448C>T (p.Leu150Phe) c.*525C>T (n.*525C>T) | dbSNP gnomAD v2 |
| X | g.48905278G>C | CA412895558 | SLC35A2 | c.631C>G (p.Leu211Val) c.355-386C>G (n.355-386C>G) c.427-386C>G (n.427-386C>G) c.212-19C>G c.415C>G (p.Leu139Val) c.715C>G (p.Leu239Val) c.670C>G (p.Leu224Val) c.424+1114C>G c.448C>G (p.Leu150Val) c.*525C>G (n.*525C>G) | |
| X | g.48905278G= | CA2428428918 | SLC35A2 | c.631C= (p.Leu211=) c.355-386C= (n.355-386C=) c.427-386C= (n.427-386C=) c.212-19C= c.415C= (p.Leu139=) c.715C= (p.Leu239=) c.670C= (p.Leu224=) c.424+1114C= c.448C= (p.Leu150=) c.*525C= (n.*525C=) | |
| X | g.48905278G>T | CA412895559 | SLC35A2 | c.631C>A (p.Leu211Ile) c.355-386C>A (n.355-386C>A) c.427-386C>A (n.427-386C>A) c.212-19C>A c.415C>A (p.Leu139Ile) c.715C>A (p.Leu239Ile) c.670C>A (p.Leu224Ile) c.424+1114C>A c.448C>A (p.Leu150Ile) c.*525C>A (n.*525C>A) | |
| X | g.48905279A>C | CA412895560 | SLC35A2 | c.630T>G (p.Cys210Trp) c.355-387T>G (n.355-387T>G) c.427-387T>G (n.427-387T>G) c.212-20T>G c.414T>G (p.Cys138Trp) c.714T>G (p.Cys238Trp) c.669T>G (p.Cys223Trp) c.424+1113T>G c.447T>G (p.Cys149Trp) c.*524T>G (n.*524T>G) | |
| X | g.48905279A>G | CA516360197 | SLC35A2 | c.630T>C (p.Cys210=) c.355-387T>C (n.355-387T>C) c.427-387T>C (n.427-387T>C) c.212-20T>C c.414T>C (p.Cys138=) c.714T>C (p.Cys238=) c.669T>C (p.Cys223=) c.424+1113T>C c.447T>C (p.Cys149=) c.*524T>C (n.*524T>C) | |
| X | g.48905279A>T | CA412895561 | SLC35A2 | c.630T>A (p.Cys210Ter) c.355-387T>A (n.355-387T>A) c.427-387T>A (n.427-387T>A) c.212-20T>A c.414T>A (p.Cys138Ter) c.714T>A (p.Cys238Ter) c.669T>A (p.Cys223Ter) c.424+1113T>A c.447T>A (p.Cys149Ter) c.*524T>A (n.*524T>A) | |
| X | g.48905280C>A | CA412895564 | SLC35A2 | c.629G>T (p.Cys210Phe) c.355-388G>T (n.355-388G>T) c.427-388G>T (n.427-388G>T) c.212-21G>T c.413G>T (p.Cys138Phe) c.713G>T (p.Cys238Phe) c.668G>T (p.Cys223Phe) c.424+1112G>T c.446G>T (p.Cys149Phe) c.*523G>T (n.*523G>T) | gnomAD v4 COSMIC COSMIC |
| X | g.48905280C>G | CA412895562 | SLC35A2 | c.629G>C (p.Cys210Ser) c.355-388G>C (n.355-388G>C) c.427-388G>C (n.427-388G>C) c.212-21G>C c.413G>C (p.Cys138Ser) c.713G>C (p.Cys238Ser) c.668G>C (p.Cys223Ser) c.424+1112G>C c.446G>C (p.Cys149Ser) c.*523G>C (n.*523G>C) | |
| X | g.48905280C>T | CA412895563 | SLC35A2 | c.629G>A (p.Cys210Tyr) c.355-388G>A (n.355-388G>A) c.427-388G>A (n.427-388G>A) c.212-21G>A c.413G>A (p.Cys138Tyr) c.713G>A (p.Cys238Tyr) c.668G>A (p.Cys223Tyr) c.424+1112G>A c.446G>A (p.Cys149Tyr) c.*523G>A (n.*523G>A) | |
| X | g.48905281A>C | CA412895565 | SLC35A2 | c.628T>G (p.Cys210Gly) c.355-389T>G (n.355-389T>G) c.427-389T>G (n.427-389T>G) c.212-22T>G c.412T>G (p.Cys138Gly) c.712T>G (p.Cys238Gly) c.667T>G (p.Cys223Gly) c.424+1111T>G c.445T>G (p.Cys149Gly) c.*522T>G (n.*522T>G) | |
| X | g.48905281A>G | CA412895566 | SLC35A2 | c.628T>C (p.Cys210Arg) c.355-389T>C (n.355-389T>C) c.427-389T>C (n.427-389T>C) c.212-22T>C c.412T>C (p.Cys138Arg) c.712T>C (p.Cys238Arg) c.667T>C (p.Cys223Arg) c.424+1111T>C c.445T>C (p.Cys149Arg) c.*522T>C (n.*522T>C) | |
| X | g.48905281A>T | CA412895567 | SLC35A2 | c.628T>A (p.Cys210Ser) c.355-389T>A (n.355-389T>A) c.427-389T>A (n.427-389T>A) c.212-22T>A c.412T>A (p.Cys138Ser) c.712T>A (p.Cys238Ser) c.667T>A (p.Cys223Ser) c.424+1111T>A c.445T>A (p.Cys149Ser) c.*522T>A (n.*522T>A) | |
| X | g.48905282G>A | CA516360201 | SLC35A2 | c.627C>T (p.Ser209=) c.355-390C>T (n.355-390C>T) c.427-390C>T (n.427-390C>T) c.212-23C>T c.411C>T (p.Ser137=) c.711C>T (p.Ser237=) c.666C>T (p.Ser222=) c.424+1110C>T c.444C>T (p.Ser148=) c.*521C>T (n.*521C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48905282G>C | CA516360202 | SLC35A2 | c.627C>G (p.Ser209=) c.355-390C>G (n.355-390C>G) c.427-390C>G (n.427-390C>G) c.212-23C>G c.411C>G (p.Ser137=) c.711C>G (p.Ser237=) c.666C>G (p.Ser222=) c.424+1110C>G c.444C>G (p.Ser148=) c.*521C>G (n.*521C>G) | |
| X | g.48905282G= | CA2428428919 | SLC35A2 | c.627C= (p.Ser209=) c.355-390C= (n.355-390C=) c.427-390C= (n.427-390C=) c.212-23C= c.411C= (p.Ser137=) c.711C= (p.Ser237=) c.666C= (p.Ser222=) c.424+1110C= c.444C= (p.Ser148=) c.*521C= (n.*521C=) | |
| X | g.48905282G>T | CA516360203 | SLC35A2 | c.627C>A (p.Ser209=) c.355-390C>A (n.355-390C>A) c.427-390C>A (n.427-390C>A) c.212-23C>A c.411C>A (p.Ser137=) c.711C>A (p.Ser237=) c.666C>A (p.Ser222=) c.424+1110C>A c.444C>A (p.Ser148=) c.*521C>A (n.*521C>A) | gnomAD v4 |
| X | g.48905283G>A | CA412895568 | SLC35A2 | c.626C>T (p.Ser209Phe) c.355-391C>T (n.355-391C>T) c.427-391C>T (n.427-391C>T) c.212-24C>T c.410C>T (p.Ser137Phe) c.710C>T (p.Ser237Phe) c.665C>T (p.Ser222Phe) c.424+1109C>T c.443C>T (p.Ser148Phe) c.*520C>T (n.*520C>T) | |
| X | g.48905283G>C | CA412895569 | SLC35A2 | c.626C>G (p.Ser209Cys) c.355-391C>G (n.355-391C>G) c.427-391C>G (n.427-391C>G) c.212-24C>G c.410C>G (p.Ser137Cys) c.710C>G (p.Ser237Cys) c.665C>G (p.Ser222Cys) c.424+1109C>G c.443C>G (p.Ser148Cys) c.*520C>G (n.*520C>G) |