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.48905288_48905292delinsCACGA | CA2428428921 | SLC35A2 | c.617_621delinsTCGTG (p.Val206=) c.355-400_355-396delinsTCGTG (n.355-400_355-396delinsTCGTG) c.427-400_427-396delinsTCGTG (n.427-400_427-396delinsTCGTG) c.212-33_212-29delinsTCGTG c.401_405delinsTCGTG (p.Val134=) c.701_705delinsTCGTG (p.Val234=) c.656_660delinsTCGTG (p.Val219=) c.424+1100_424+1104delinsTCGTG c.434_438delinsTCGTG (p.Val145=) c.*511_*515delinsTCGTG (n.*511_*515delinsTCGTG) | |
| X | g.48905289A>C | CA412895580 | SLC35A2 | c.620T>G (p.Val207Gly) c.355-397T>G (n.355-397T>G) c.427-397T>G (n.427-397T>G) c.212-30T>G c.404T>G (p.Val135Gly) c.704T>G (p.Val235Gly) c.659T>G (p.Val220Gly) c.424+1103T>G c.437T>G (p.Val146Gly) c.*514T>G (n.*514T>G) | |
| X | g.48905289A>G | CA412895581 | SLC35A2 | c.620T>C (p.Val207Ala) c.355-397T>C (n.355-397T>C) c.427-397T>C (n.427-397T>C) c.212-30T>C c.404T>C (p.Val135Ala) c.704T>C (p.Val235Ala) c.659T>C (p.Val220Ala) c.424+1103T>C c.437T>C (p.Val146Ala) c.*514T>C (n.*514T>C) | |
| X | g.48905289A>T | CA412895582 | SLC35A2 | c.620T>A (p.Val207Glu) c.355-397T>A (n.355-397T>A) c.427-397T>A (n.427-397T>A) c.212-30T>A c.404T>A (p.Val135Glu) c.704T>A (p.Val235Glu) c.659T>A (p.Val220Glu) c.424+1103T>A c.437T>A (p.Val146Glu) c.*514T>A (n.*514T>A) | |
| X | g.48905289_48905292del | CA16043709 | SLC35A2 | c.617_620del (p.Val206GlyfsTer?) c.355-400_355-397del (n.355-400_355-397del) c.427-400_427-397del (n.427-400_427-397del) c.212-33_212-30del c.401_404del (p.Val134GlyfsTer?) c.701_704del (p.Val234GlyfsTer?) c.656_659del (p.Val219GlyfsTer?) c.424+1100_424+1103del c.434_437del (p.Val145GlyfsTer?) c.*511_*514del (n.*511_*514del) | ClinVar dbSNP |
| X | g.48905290C>A | CA412895583 | SLC35A2 | c.619G>T (p.Val207Leu) c.355-398G>T (n.355-398G>T) c.427-398G>T (n.427-398G>T) c.212-31G>T c.403G>T (p.Val135Leu) c.703G>T (p.Val235Leu) c.658G>T (p.Val220Leu) c.424+1102G>T c.436G>T (p.Val146Leu) c.*513G>T (n.*513G>T) | |
| X | g.48905290C= | CA2428428923 | SLC35A2 | c.619G= (p.Val207=) c.355-398G= (n.355-398G=) c.427-398G= (n.427-398G=) c.212-31G= c.403G= (p.Val135=) c.703G= (p.Val235=) c.658G= (p.Val220=) c.424+1102G= c.436G= (p.Val146=) c.*513G= (n.*513G=) | |
| X | g.48905290C>G | CA412895584 | SLC35A2 | c.619G>C (p.Val207Leu) c.355-398G>C (n.355-398G>C) c.427-398G>C (n.427-398G>C) c.212-31G>C c.403G>C (p.Val135Leu) c.703G>C (p.Val235Leu) c.658G>C (p.Val220Leu) c.424+1102G>C c.436G>C (p.Val146Leu) c.*513G>C (n.*513G>C) | |
| X | g.48905290C>T | CA10406108 | SLC35A2 | c.619G>A (p.Val207Met) c.355-398G>A (n.355-398G>A) c.427-398G>A (n.427-398G>A) c.212-31G>A c.403G>A (p.Val135Met) c.703G>A (p.Val235Met) c.658G>A (p.Val220Met) c.424+1102G>A c.436G>A (p.Val146Met) c.*513G>A (n.*513G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905291G>A | CA10406109 | SLC35A2 | c.618C>T (p.Val206=) c.355-399C>T (n.355-399C>T) c.427-399C>T (n.427-399C>T) c.212-32C>T c.402C>T (p.Val134=) c.702C>T (p.Val234=) c.657C>T (p.Val219=) c.424+1101C>T c.435C>T (p.Val145=) c.*512C>T (n.*512C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48905291G>C | CA516360213 | SLC35A2 | c.618C>G (p.Val206=) c.355-399C>G (n.355-399C>G) c.427-399C>G (n.427-399C>G) c.212-32C>G c.402C>G (p.Val134=) c.702C>G (p.Val234=) c.657C>G (p.Val219=) c.424+1101C>G c.435C>G (p.Val145=) c.*512C>G (n.*512C>G) | |
| X | g.48905291G= | CA2428428924 | SLC35A2 | c.618C= (p.Val206=) c.355-399C= (n.355-399C=) c.427-399C= (n.427-399C=) c.212-32C= c.402C= (p.Val134=) c.702C= (p.Val234=) c.657C= (p.Val219=) c.424+1101C= c.435C= (p.Val145=) c.*512C= (n.*512C=) | |
| X | g.48905291G>T | CA516360212 | SLC35A2 | c.618C>A (p.Val206=) c.355-399C>A (n.355-399C>A) c.427-399C>A (n.427-399C>A) c.212-32C>A c.402C>A (p.Val134=) c.702C>A (p.Val234=) c.657C>A (p.Val219=) c.424+1101C>A c.435C>A (p.Val145=) c.*512C>A (n.*512C>A) | COSMIC |
| X | g.48905292del | CA2695233839 | SLC35A2 | c.617del (p.Val206AlafsTer?) c.355-400del (n.355-400del) c.427-400del (n.427-400del) c.212-33del c.401del (p.Val134AlafsTer?) c.701del (p.Val234AlafsTer?) c.656del (p.Val219AlafsTer?) c.424+1100del c.434del (p.Val145AlafsTer?) c.*511del (n.*511del) | |
| X | g.48905292A>C | CA412895585 | SLC35A2 | c.617T>G (p.Val206Gly) c.355-400T>G (n.355-400T>G) c.427-400T>G (n.427-400T>G) c.212-33T>G c.401T>G (p.Val134Gly) c.701T>G (p.Val234Gly) c.656T>G (p.Val219Gly) c.424+1100T>G c.434T>G (p.Val145Gly) c.*511T>G (n.*511T>G) | |
| X | g.48905292A>G | CA412895587 | SLC35A2 | c.617T>C (p.Val206Ala) c.355-400T>C (n.355-400T>C) c.427-400T>C (n.427-400T>C) c.212-33T>C c.401T>C (p.Val134Ala) c.701T>C (p.Val234Ala) c.656T>C (p.Val219Ala) c.424+1100T>C c.434T>C (p.Val145Ala) c.*511T>C (n.*511T>C) | gnomAD v4 |
| X | g.48905292A>T | CA412895586 | SLC35A2 | c.617T>A (p.Val206Asp) c.355-400T>A (n.355-400T>A) c.427-400T>A (n.427-400T>A) c.212-33T>A c.401T>A (p.Val134Asp) c.701T>A (p.Val234Asp) c.656T>A (p.Val219Asp) c.424+1100T>A c.434T>A (p.Val145Asp) c.*511T>A (n.*511T>A) | |
| X | g.48905293C>A | CA412895588 | SLC35A2 | c.616G>T (p.Val206Phe) c.355-401G>T (n.355-401G>T) c.427-401G>T (n.427-401G>T) c.212-34G>T c.400G>T (p.Val134Phe) c.700G>T (p.Val234Phe) c.655G>T (p.Val219Phe) c.424+1099G>T c.433G>T (p.Val145Phe) c.*510G>T (n.*510G>T) | ClinVar |
| X | g.48905293C= | CA2428428925 | SLC35A2 | c.616G= (p.Val206=) c.355-401G= (n.355-401G=) c.427-401G= (n.427-401G=) c.212-34G= c.400G= (p.Val134=) c.700G= (p.Val234=) c.655G= (p.Val219=) c.424+1099G= c.433G= (p.Val145=) c.*510G= (n.*510G=) | |
| X | g.48905293C>G | CA412895589 | SLC35A2 | c.616G>C (p.Val206Leu) c.355-401G>C (n.355-401G>C) c.427-401G>C (n.427-401G>C) c.212-34G>C c.400G>C (p.Val134Leu) c.700G>C (p.Val234Leu) c.655G>C (p.Val219Leu) c.424+1099G>C c.433G>C (p.Val145Leu) c.*510G>C (n.*510G>C) | |
| X | g.48905293C>T | CA412895590 | SLC35A2 | c.616G>A (p.Val206Ile) c.355-401G>A (n.355-401G>A) c.427-401G>A (n.427-401G>A) c.212-34G>A c.400G>A (p.Val134Ile) c.700G>A (p.Val234Ile) c.655G>A (p.Val219Ile) c.424+1099G>A c.433G>A (p.Val145Ile) c.*510G>A (n.*510G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48905294G>A | CA10406110 | SLC35A2 | c.615C>T (p.Ala205=) c.355-402C>T (n.355-402C>T) c.427-402C>T (n.427-402C>T) c.212-35C>T c.399C>T (p.Ala133=) c.699C>T (p.Ala233=) c.654C>T (p.Ala218=) c.424+1098C>T c.432C>T (p.Ala144=) c.*509C>T (n.*509C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48905294G>C | CA516360216 | SLC35A2 | c.615C>G (p.Ala205=) c.355-402C>G (n.355-402C>G) c.427-402C>G (n.427-402C>G) c.212-35C>G c.399C>G (p.Ala133=) c.699C>G (p.Ala233=) c.654C>G (p.Ala218=) c.424+1098C>G c.432C>G (p.Ala144=) c.*509C>G (n.*509C>G) | |
| X | g.48905294G= | CA2428428926 | SLC35A2 | c.615C= (p.Ala205=) c.355-402C= (n.355-402C=) c.427-402C= (n.427-402C=) c.212-35C= c.399C= (p.Ala133=) c.699C= (p.Ala233=) c.654C= (p.Ala218=) c.424+1098C= c.432C= (p.Ala144=) c.*509C= (n.*509C=) | |
| X | g.48905294G>T | CA516360217 | SLC35A2 | c.615C>A (p.Ala205=) c.355-402C>A (n.355-402C>A) c.427-402C>A (n.427-402C>A) c.212-35C>A c.399C>A (p.Ala133=) c.699C>A (p.Ala233=) c.654C>A (p.Ala218=) c.424+1098C>A c.432C>A (p.Ala144=) c.*509C>A (n.*509C>A) | |
| X | g.48905295G>A | CA412895591 | SLC35A2 | c.614C>T (p.Ala205Val) c.355-403C>T (n.355-403C>T) c.427-403C>T (n.427-403C>T) c.212-36C>T c.398C>T (p.Ala133Val) c.698C>T (p.Ala233Val) c.653C>T (p.Ala218Val) c.424+1097C>T c.431C>T (p.Ala144Val) c.*508C>T (n.*508C>T) | gnomAD v4 |
| X | g.48905295G>C | CA412895593 | SLC35A2 | c.614C>G (p.Ala205Gly) c.355-403C>G (n.355-403C>G) c.427-403C>G (n.427-403C>G) c.212-36C>G c.398C>G (p.Ala133Gly) c.698C>G (p.Ala233Gly) c.653C>G (p.Ala218Gly) c.424+1097C>G c.431C>G (p.Ala144Gly) c.*508C>G (n.*508C>G) | |
| X | g.48905295G>T | CA412895592 | SLC35A2 | c.614C>A (p.Ala205Asp) c.355-403C>A (n.355-403C>A) c.427-403C>A (n.427-403C>A) c.212-36C>A c.398C>A (p.Ala133Asp) c.698C>A (p.Ala233Asp) c.653C>A (p.Ala218Asp) c.424+1097C>A c.431C>A (p.Ala144Asp) c.*508C>A (n.*508C>A) | |
| X | g.48905296C>A | CA412895594 | SLC35A2 | c.613G>T (p.Ala205Ser) c.355-404G>T (n.355-404G>T) c.427-404G>T (n.427-404G>T) c.212-37G>T c.397G>T (p.Ala133Ser) c.697G>T (p.Ala233Ser) c.652G>T (p.Ala218Ser) c.574G>T c.424+1096G>T c.430G>T (p.Ala144Ser) c.*507G>T (n.*507G>T) | |
| X | g.48905296C>G | CA412895595 | SLC35A2 | c.613G>C (p.Ala205Pro) c.355-404G>C (n.355-404G>C) c.427-404G>C (n.427-404G>C) c.212-37G>C c.397G>C (p.Ala133Pro) c.697G>C (p.Ala233Pro) c.652G>C (p.Ala218Pro) c.574G>C c.424+1096G>C c.430G>C (p.Ala144Pro) c.*507G>C (n.*507G>C) | |
| X | g.48905296C>T | CA412895596 | SLC35A2 | c.613G>A (p.Ala205Thr) c.355-404G>A (n.355-404G>A) c.427-404G>A (n.427-404G>A) c.212-37G>A c.397G>A (p.Ala133Thr) c.697G>A (p.Ala233Thr) c.652G>A (p.Ala218Thr) c.574G>A c.424+1096G>A c.430G>A (p.Ala144Thr) c.*507G>A (n.*507G>A) | |
| X | g.48905297T>A | CA516360218 | SLC35A2 | c.612A>T (p.Ala204=) c.355-405A>T (n.355-405A>T) c.427-405A>T (n.427-405A>T) c.212-38A>T c.396A>T (p.Ala132=) c.696A>T (p.Ala232=) c.651A>T (p.Ala217=) c.573A>T (p.Ala191=) c.424+1095A>T c.429A>T (p.Ala143=) c.*506A>T (n.*506A>T) | gnomAD v4 |
| X | g.48905297T>C | CA516360219 | SLC35A2 | c.612A>G (p.Ala204=) c.355-405A>G (n.355-405A>G) c.427-405A>G (n.427-405A>G) c.212-38A>G c.396A>G (p.Ala132=) c.696A>G (p.Ala232=) c.651A>G (p.Ala217=) c.573A>G (p.Ala191=) c.424+1095A>G c.429A>G (p.Ala143=) c.*506A>G (n.*506A>G) | |
| X | g.48905297T>G | CA516360220 | SLC35A2 | c.612A>C (p.Ala204=) c.355-405A>C (n.355-405A>C) c.427-405A>C (n.427-405A>C) c.212-38A>C c.396A>C (p.Ala132=) c.696A>C (p.Ala232=) c.651A>C (p.Ala217=) c.573A>C (p.Ala191=) c.424+1095A>C c.429A>C (p.Ala143=) c.*506A>C (n.*506A>C) | |
| X | g.48905298G>A | CA412895597 | SLC35A2 | c.611C>T (p.Ala204Val) c.355-406C>T (n.355-406C>T) c.427-406C>T (n.427-406C>T) c.212-39C>T c.395C>T (p.Ala132Val) c.695C>T (p.Ala232Val) c.650C>T (p.Ala217Val) c.572C>T (p.Ala191Val) c.424+1094C>T c.428C>T (p.Ala143Val) c.*505C>T (n.*505C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.48905298G>C | CA412895598 | SLC35A2 | c.611C>G (p.Ala204Gly) c.355-406C>G (n.355-406C>G) c.427-406C>G (n.427-406C>G) c.212-39C>G c.395C>G (p.Ala132Gly) c.695C>G (p.Ala232Gly) c.650C>G (p.Ala217Gly) c.572C>G (p.Ala191Gly) c.424+1094C>G c.428C>G (p.Ala143Gly) c.*505C>G (n.*505C>G) | |
| X | g.48905298G= | CA2428428927 | SLC35A2 | c.611C= (p.Ala204=) c.355-406C= (n.355-406C=) c.427-406C= (n.427-406C=) c.212-39C= c.395C= (p.Ala132=) c.695C= (p.Ala232=) c.650C= (p.Ala217=) c.572C= (p.Ala191=) c.424+1094C= c.428C= (p.Ala143=) c.*505C= (n.*505C=) | |
| X | g.48905298G>T | CA412895599 | SLC35A2 | c.611C>A (p.Ala204Glu) c.355-406C>A (n.355-406C>A) c.427-406C>A (n.427-406C>A) c.212-39C>A c.395C>A (p.Ala132Glu) c.695C>A (p.Ala232Glu) c.650C>A (p.Ala217Glu) c.572C>A (p.Ala191Glu) c.424+1094C>A c.428C>A (p.Ala143Glu) c.*505C>A (n.*505C>A) | gnomAD v4 |
| X | g.48905299C>A | CA412895600 | SLC35A2 | c.610G>T (p.Ala204Ser) c.355-407G>T (n.355-407G>T) c.427-407G>T (n.427-407G>T) c.212-40G>T c.394G>T (p.Ala132Ser) c.694G>T (p.Ala232Ser) c.649G>T (p.Ala217Ser) c.571G>T (p.Ala191Ser) c.424+1093G>T c.427G>T (p.Ala143Ser) c.*504G>T (n.*504G>T) | gnomAD v4 |
| X | g.48905299C>G | CA412895601 | SLC35A2 | c.610G>C (p.Ala204Pro) c.355-407G>C (n.355-407G>C) c.427-407G>C (n.427-407G>C) c.212-40G>C c.394G>C (p.Ala132Pro) c.694G>C (p.Ala232Pro) c.649G>C (p.Ala217Pro) c.571G>C (p.Ala191Pro) c.424+1093G>C c.427G>C (p.Ala143Pro) c.*504G>C (n.*504G>C) | |
| X | g.48905299C>T | CA412895602 | SLC35A2 | c.610G>A (p.Ala204Thr) c.355-407G>A (n.355-407G>A) c.427-407G>A (n.427-407G>A) c.212-40G>A c.394G>A (p.Ala132Thr) c.694G>A (p.Ala232Thr) c.649G>A (p.Ala217Thr) c.571G>A (p.Ala191Thr) c.424+1093G>A c.427G>A (p.Ala143Thr) c.*504G>A (n.*504G>A) | ClinVar dbSNP |
| X | g.48905300C>A | CA516360224 | SLC35A2 | c.609G>T (p.Leu203=) c.355-408G>T (n.355-408G>T) c.427-408G>T (n.427-408G>T) c.212-41G>T c.393G>T (p.Leu131=) c.693G>T (p.Leu231=) c.648G>T (p.Leu216=) c.570G>T (p.Leu190=) c.424+1092G>T c.426G>T (p.Leu142=) c.*503G>T (n.*503G>T) | gnomAD v4 |
| X | g.48905300C>G | CA516360225 | SLC35A2 | c.609G>C (p.Leu203=) c.355-408G>C (n.355-408G>C) c.427-408G>C (n.427-408G>C) c.212-41G>C c.393G>C (p.Leu131=) c.693G>C (p.Leu231=) c.648G>C (p.Leu216=) c.570G>C (p.Leu190=) c.424+1092G>C c.426G>C (p.Leu142=) c.*503G>C (n.*503G>C) | |
| X | g.48905300C>T | CA516360226 | SLC35A2 | c.609G>A (p.Leu203=) c.355-408G>A (n.355-408G>A) c.427-408G>A (n.427-408G>A) c.212-41G>A c.393G>A (p.Leu131=) c.693G>A (p.Leu231=) c.648G>A (p.Leu216=) c.570G>A (p.Leu190=) c.424+1092G>A c.426G>A (p.Leu142=) c.*503G>A (n.*503G>A) | |
| X | g.48905301A>C | CA412895603 | SLC35A2 | c.608T>G (p.Leu203Arg) c.355-409T>G (n.355-409T>G) c.427-409T>G (n.427-409T>G) c.212-42T>G c.392T>G (p.Leu131Arg) c.692T>G (p.Leu231Arg) c.647T>G (p.Leu216Arg) c.569T>G (p.Leu190Arg) c.424+1091T>G c.425T>G (p.Leu142Arg) c.*502T>G (n.*502T>G) | |
| X | g.48905301A>G | CA412895604 | SLC35A2 | c.608T>C (p.Leu203Pro) c.355-409T>C (n.355-409T>C) c.427-409T>C (n.427-409T>C) c.212-42T>C c.392T>C (p.Leu131Pro) c.692T>C (p.Leu231Pro) c.647T>C (p.Leu216Pro) c.569T>C (p.Leu190Pro) c.424+1091T>C c.425T>C (p.Leu142Pro) c.*502T>C (n.*502T>C) | |
| X | g.48905301A>T | CA412895605 | SLC35A2 | c.608T>A (p.Leu203Gln) c.355-409T>A (n.355-409T>A) c.427-409T>A (n.427-409T>A) c.212-42T>A c.392T>A (p.Leu131Gln) c.692T>A (p.Leu231Gln) c.647T>A (p.Leu216Gln) c.569T>A (p.Leu190Gln) c.424+1091T>A c.425T>A (p.Leu142Gln) c.*502T>A (n.*502T>A) | |
| X | g.48905302G>A | CA516360227 | SLC35A2 | c.607C>T (p.Leu203=) c.355-410C>T (n.355-410C>T) c.427-410C>T (n.427-410C>T) c.212-43C>T c.391C>T (p.Leu131=) c.691C>T (p.Leu231=) c.646C>T (p.Leu216=) c.568C>T (p.Leu190=) c.424+1090C>T c.424C>T (p.Leu142=) c.*501C>T (n.*501C>T) |