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 |
|---|---|---|---|---|---|
| 11 | g.64803514_64804816del | CA891843125 | MEN1 | c.1351_*820del (n.[c.1351_*820del;Val451=]) c.1366_*820del (n.[c.1366_*820del;Val456=]) c.1186_*820del (n.[c.1186_*820del;Val396Ter]) | ClinVar |
| 11 | g.64804201_64804818delinsCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCT | CA1978916146 | MEN1 | c.1366-2_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.*659-2_*1274delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.1351-11_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.1351-2_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.*447-2_*1062delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.702-11_1308delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG n.1844-2_2459delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG n.1313-2_1928delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG n.1852-2_2467delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG n.1628-2_2243delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.1477-2_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.1186-2_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.1246-2_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG c.1492-2_*133delinsAGGTGCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGAGGAGCCGTGGGGCGAGGAAGCCCGGGAAGGCCGGCGGCGGGGCCCACGGCGGGAGTCCAAGCCAGAGGAGCCCCCGCCGCCCAAGAAGCCAGCACTGGACAAGGGCCTGGGCACCGGCCAGGGTGCAGTGTCAGGACCCCCCCGGAAGCCTCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGCTCAGGTGCCAGCACCCACAGCATCACCACCGCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCCATCAAGCTGCAACTCACGGCACAGTCGCAAGTGCAGATGAAGAAGCAGAAAGTGTCCACCCCTAGTGACTACACTCTGTCTTTCCTCAAGCGGCAGCGCAAAGGCCTCTGAACTACTGGGGACTTCGGACCGCTTGTGGGGACCCAGGCTCCGCCCTTAGTCCCCCAACTCTGAGCCCATGTTCTGCCCCCAGCCCAAAGGGGACAGGCCTCACCTCTACCCAAACCCTAGGTTCCCGGTCCCG | |
| 11 | g.64804205_64804821del | CA891843126 | MEN1 | c.1366-2_*132del c.*659-2_*1273del c.1351-11_*132del c.1351-2_*132del c.*447-2_*1061del c.702-11_1307del n.1844-2_2458del n.1313-2_1927del n.1852-2_2466del n.1628-2_2242del c.1477-2_*132del c.1186-2_*132del c.1246-2_*132del c.1492-2_*132del | ClinVar dbSNP |
| 11 | g.64804346G>A | CA475162865 | MEN1 | c.1836C>T (p.Arg612=) c.*1129C>T (n.*1129C>T) c.1812C>T (p.Arg604=) c.1821C>T (p.Arg607=) c.*917C>T (n.*917C>T) c.1163C>T n.2314C>T n.1783C>T n.2322C>T n.2098C>T c.1947C>T (p.Arg649=) c.1656C>T (p.Arg552=) c.1716C>T (p.Arg572=) c.1962C>T (p.Arg654=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64804346G>C | CA475162866 | MEN1 | c.1836C>G (p.Arg612=) c.*1129C>G (n.*1129C>G) c.1812C>G (p.Arg604=) c.1821C>G (p.Arg607=) c.*917C>G (n.*917C>G) c.1163C>G n.2314C>G n.1783C>G n.2322C>G n.2098C>G c.1947C>G (p.Arg649=) c.1656C>G (p.Arg552=) c.1716C>G (p.Arg572=) c.1962C>G (p.Arg654=) | ClinVar |
| 11 | g.64804346G>T | CA475162867 | MEN1 | c.1836C>A (p.Arg612=) c.*1129C>A (n.*1129C>A) c.1812C>A (p.Arg604=) c.1821C>A (p.Arg607=) c.*917C>A (n.*917C>A) c.1163C>A n.2314C>A n.1783C>A n.2322C>A n.2098C>A c.1947C>A (p.Arg649=) c.1656C>A (p.Arg552=) c.1716C>A (p.Arg572=) c.1962C>A (p.Arg654=) | |
| 11 | g.64804347C>A | CA381177051 | MEN1 | c.1835G>T (p.Arg612Leu) c.*1128G>T (n.*1128G>T) c.1811G>T (p.Arg604Leu) c.1820G>T (p.Arg607Leu) c.*916G>T (n.*916G>T) c.1162G>T n.2313G>T n.1782G>T n.2321G>T n.2097G>T c.1946G>T (p.Arg649Leu) c.1655G>T (p.Arg552Leu) c.1715G>T (p.Arg572Leu) c.1961G>T (p.Arg654Leu) | |
| 11 | g.64804347C>G | CA381177053 | MEN1 | c.1835G>C (p.Arg612Pro) c.*1128G>C (n.*1128G>C) c.1811G>C (p.Arg604Pro) c.1820G>C (p.Arg607Pro) c.*916G>C (n.*916G>C) c.1162G>C n.2313G>C n.1782G>C n.2321G>C n.2097G>C c.1946G>C (p.Arg649Pro) c.1655G>C (p.Arg552Pro) c.1715G>C (p.Arg572Pro) c.1961G>C (p.Arg654Pro) | |
| 11 | g.64804347C>T | CA381177055 | MEN1 | c.1835G>A (p.Arg612His) c.*1128G>A (n.*1128G>A) c.1811G>A (p.Arg604His) c.1820G>A (p.Arg607His) c.*916G>A (n.*916G>A) c.1162G>A n.2313G>A n.1782G>A n.2321G>A n.2097G>A c.1946G>A (p.Arg649His) c.1655G>A (p.Arg552His) c.1715G>A (p.Arg572His) c.1961G>A (p.Arg654His) | dbSNP COSMIC |
| 11 | g.64804348G>A | CA223911679 | MEN1 | c.1834C>T (p.Arg612Cys) c.*1127C>T (n.*1127C>T) c.1810C>T (p.Arg604Cys) c.1819C>T (p.Arg607Cys) c.*915C>T (n.*915C>T) c.1161C>T n.2312C>T n.1781C>T n.2320C>T n.2096C>T c.1945C>T (p.Arg649Cys) c.1654C>T (p.Arg552Cys) c.1714C>T (p.Arg572Cys) c.1960C>T (p.Arg654Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64804348G>C | CA381177062 | MEN1 | c.1834C>G (p.Arg612Gly) c.*1127C>G (n.*1127C>G) c.1810C>G (p.Arg604Gly) c.1819C>G (p.Arg607Gly) c.*915C>G (n.*915C>G) c.1161C>G n.2312C>G n.1781C>G n.2320C>G n.2096C>G c.1945C>G (p.Arg649Gly) c.1654C>G (p.Arg552Gly) c.1714C>G (p.Arg572Gly) c.1960C>G (p.Arg654Gly) | |
| 11 | g.64804348G= | CA1978916501 | MEN1 | c.1834C= (p.Arg612=) c.*1127C= (n.*1127C=) c.1810C= (p.Arg604=) c.1819C= (p.Arg607=) c.*915C= (n.*915C=) c.1161C= n.2312C= n.1781C= n.2320C= n.2096C= c.1945C= (p.Arg649=) c.1654C= (p.Arg552=) c.1714C= (p.Arg572=) c.1960C= (p.Arg654=) | |
| 11 | g.64804348G>T | CA381177058 | MEN1 | c.1834C>A (p.Arg612Ser) c.*1127C>A (n.*1127C>A) c.1810C>A (p.Arg604Ser) c.1819C>A (p.Arg607Ser) c.*915C>A (n.*915C>A) c.1161C>A n.2312C>A n.1781C>A n.2320C>A n.2096C>A c.1945C>A (p.Arg649Ser) c.1654C>A (p.Arg552Ser) c.1714C>A (p.Arg572Ser) c.1960C>A (p.Arg654Ser) | ClinVar |
| 11 | g.64804349C>A | CA381177064 | MEN1 | c.1833G>T (p.Gln611His) c.*1126G>T (n.*1126G>T) c.1809G>T (p.Gln603His) c.1818G>T (p.Gln606His) c.*914G>T (n.*914G>T) c.1160G>T n.2311G>T n.1780G>T n.2319G>T n.2095G>T c.1944G>T (p.Gln648His) c.1653G>T (p.Gln551His) c.1713G>T (p.Gln571His) c.1959G>T (p.Gln653His) | |
| 11 | g.64804349C>G | CA381177065 | MEN1 | c.1833G>C (p.Gln611His) c.*1126G>C (n.*1126G>C) c.1809G>C (p.Gln603His) c.1818G>C (p.Gln606His) c.*914G>C (n.*914G>C) c.1160G>C n.2311G>C n.1780G>C n.2319G>C n.2095G>C c.1944G>C (p.Gln648His) c.1653G>C (p.Gln551His) c.1713G>C (p.Gln571His) c.1959G>C (p.Gln653His) | |
| 11 | g.64804349C>T | CA475162876 | MEN1 | c.1833G>A (p.Gln611=) c.*1126G>A (n.*1126G>A) c.1809G>A (p.Gln603=) c.1818G>A (p.Gln606=) c.*914G>A (n.*914G>A) c.1160G>A n.2311G>A n.1780G>A n.2319G>A n.2095G>A c.1944G>A (p.Gln648=) c.1653G>A (p.Gln551=) c.1713G>A (p.Gln571=) c.1959G>A (p.Gln653=) | ClinVar |
| 11 | g.64804350T>A | CA381177067 | MEN1 | c.1832A>T (p.Gln611Leu) c.*1125A>T (n.*1125A>T) c.1808A>T (p.Gln603Leu) c.1817A>T (p.Gln606Leu) c.*913A>T (n.*913A>T) c.1159A>T n.2310A>T n.1779A>T n.2318A>T n.2094A>T c.1943A>T (p.Gln648Leu) c.1652A>T (p.Gln551Leu) c.1712A>T (p.Gln571Leu) c.1958A>T (p.Gln653Leu) | |
| 11 | g.64804350T>C | CA381177069 | MEN1 | c.1832A>G (p.Gln611Arg) c.*1125A>G (n.*1125A>G) c.1808A>G (p.Gln603Arg) c.1817A>G (p.Gln606Arg) c.*913A>G (n.*913A>G) c.1159A>G n.2310A>G n.1779A>G n.2318A>G n.2094A>G c.1943A>G (p.Gln648Arg) c.1652A>G (p.Gln551Arg) c.1712A>G (p.Gln571Arg) c.1958A>G (p.Gln653Arg) | |
| 11 | g.64804350T>G | CA381177070 | MEN1 | c.1832A>C (p.Gln611Pro) c.*1125A>C (n.*1125A>C) c.1808A>C (p.Gln603Pro) c.1817A>C (p.Gln606Pro) c.*913A>C (n.*913A>C) c.1159A>C n.2310A>C n.1779A>C n.2318A>C n.2094A>C c.1943A>C (p.Gln648Pro) c.1652A>C (p.Gln551Pro) c.1712A>C (p.Gln571Pro) c.1958A>C (p.Gln653Pro) | |
| 11 | g.64804351G>A | CA381177073 | MEN1 | c.1831C>T (p.Gln611Ter) c.*1124C>T (n.*1124C>T) c.1807C>T (p.Gln603Ter) c.1816C>T (p.Gln606Ter) c.*912C>T (n.*912C>T) c.1158C>T n.2309C>T n.1778C>T n.2317C>T n.2093C>T c.1942C>T (p.Gln648Ter) c.1651C>T (p.Gln551Ter) c.1711C>T (p.Gln571Ter) c.1957C>T (p.Gln653Ter) | dbSNP |
| 11 | g.64804351G>C | CA381177075 | MEN1 | c.1831C>G (p.Gln611Glu) c.*1124C>G (n.*1124C>G) c.1807C>G (p.Gln603Glu) c.1816C>G (p.Gln606Glu) c.*912C>G (n.*912C>G) c.1158C>G n.2309C>G n.1778C>G n.2317C>G n.2093C>G c.1942C>G (p.Gln648Glu) c.1651C>G (p.Gln551Glu) c.1711C>G (p.Gln571Glu) c.1957C>G (p.Gln653Glu) | dbSNP |
| 11 | g.64804351G>T | CA381177076 | MEN1 | c.1831C>A (p.Gln611Lys) c.*1124C>A (n.*1124C>A) c.1807C>A (p.Gln603Lys) c.1816C>A (p.Gln606Lys) c.*912C>A (n.*912C>A) c.1158C>A n.2309C>A n.1778C>A n.2317C>A n.2093C>A c.1942C>A (p.Gln648Lys) c.1651C>A (p.Gln551Lys) c.1711C>A (p.Gln571Lys) c.1957C>A (p.Gln653Lys) | |
| 11 | g.64804352C>A | CA475162882 | MEN1 | c.1830G>T (p.Arg610=) c.*1123G>T (n.*1123G>T) c.1806G>T (p.Arg602=) c.1815G>T (p.Arg605=) c.*911G>T (n.*911G>T) c.1157G>T n.2308G>T n.1777G>T n.2316G>T n.2092G>T c.1941G>T (p.Arg647=) c.1650G>T (p.Arg550=) c.1710G>T (p.Arg570=) c.1956G>T (p.Arg652=) | |
| 11 | g.64804352C>G | CA475162884 | MEN1 | c.1830G>C (p.Arg610=) c.*1123G>C (n.*1123G>C) c.1806G>C (p.Arg602=) c.1815G>C (p.Arg605=) c.*911G>C (n.*911G>C) c.1157G>C n.2308G>C n.1777G>C n.2316G>C n.2092G>C c.1941G>C (p.Arg647=) c.1650G>C (p.Arg550=) c.1710G>C (p.Arg570=) c.1956G>C (p.Arg652=) | |
| 11 | g.64804352C>T | CA475162880 | MEN1 | c.1830G>A (p.Arg610=) c.*1123G>A (n.*1123G>A) c.1806G>A (p.Arg602=) c.1815G>A (p.Arg605=) c.*911G>A (n.*911G>A) c.1157G>A n.2308G>A n.1777G>A n.2316G>A n.2092G>A c.1941G>A (p.Arg647=) c.1650G>A (p.Arg550=) c.1710G>A (p.Arg570=) c.1956G>A (p.Arg652=) | dbSNP |
| 11 | g.64804353C>A | CA381177083 | MEN1 | c.1829G>T (p.Arg610Leu) c.*1122G>T (n.*1122G>T) c.1805G>T (p.Arg602Leu) c.1814G>T (p.Arg605Leu) c.*910G>T (n.*910G>T) c.1156G>T n.2307G>T n.1776G>T n.2315G>T n.2091G>T c.1940G>T (p.Arg647Leu) c.1649G>T (p.Arg550Leu) c.1709G>T (p.Arg570Leu) c.1955G>T (p.Arg652Leu) | ClinVar dbSNP |
| 11 | g.64804353C= | CA1978916517 | MEN1 | c.1829G= (p.Arg610=) c.*1122G= (n.*1122G=) c.1805G= (p.Arg602=) c.1814G= (p.Arg605=) c.*910G= (n.*910G=) c.1156G= n.2307G= n.1776G= n.2315G= n.2091G= c.1940G= (p.Arg647=) c.1649G= (p.Arg550=) c.1709G= (p.Arg570=) c.1955G= (p.Arg652=) | |
| 11 | g.64804353C>G | CA381177085 | MEN1 | c.1829G>C (p.Arg610Pro) c.*1122G>C (n.*1122G>C) c.1805G>C (p.Arg602Pro) c.1814G>C (p.Arg605Pro) c.*910G>C (n.*910G>C) c.1156G>C n.2307G>C n.1776G>C n.2315G>C n.2091G>C c.1940G>C (p.Arg647Pro) c.1649G>C (p.Arg550Pro) c.1709G>C (p.Arg570Pro) c.1955G>C (p.Arg652Pro) | |
| 11 | g.64804353C>T | CA009311 | MEN1 | c.1829G>A (p.Arg610Gln) c.*1122G>A (n.*1122G>A) c.1805G>A (p.Arg602Gln) c.1814G>A (p.Arg605Gln) c.*910G>A (n.*910G>A) c.1156G>A n.2307G>A n.1776G>A n.2315G>A n.2091G>A c.1940G>A (p.Arg647Gln) c.1649G>A (p.Arg550Gln) c.1709G>A (p.Arg570Gln) c.1955G>A (p.Arg652Gln) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64804354G>A | CA381177089 | MEN1 | c.1828C>T (p.Arg610Trp) c.*1121C>T (n.*1121C>T) c.1804C>T (p.Arg602Trp) c.1813C>T (p.Arg605Trp) c.*909C>T (n.*909C>T) c.1155C>T n.2306C>T n.1775C>T n.2314C>T n.2090C>T c.1939C>T (p.Arg647Trp) c.1648C>T (p.Arg550Trp) c.1708C>T (p.Arg570Trp) c.1954C>T (p.Arg652Trp) | dbSNP |
| 11 | g.64804354G>C | CA381177090 | MEN1 | c.1828C>G (p.Arg610Gly) c.*1121C>G (n.*1121C>G) c.1804C>G (p.Arg602Gly) c.1813C>G (p.Arg605Gly) c.*909C>G (n.*909C>G) c.1155C>G n.2306C>G n.1775C>G n.2314C>G n.2090C>G c.1939C>G (p.Arg647Gly) c.1648C>G (p.Arg550Gly) c.1708C>G (p.Arg570Gly) c.1954C>G (p.Arg652Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64804354G>T | CA475162886 | MEN1 | c.1828C>A (p.Arg610=) c.*1121C>A (n.*1121C>A) c.1804C>A (p.Arg602=) c.1813C>A (p.Arg605=) c.*909C>A (n.*909C>A) c.1155C>A n.2306C>A n.1775C>A n.2314C>A n.2090C>A c.1939C>A (p.Arg647=) c.1648C>A (p.Arg550=) c.1708C>A (p.Arg570=) c.1954C>A (p.Arg652=) | COSMIC |
| 11 | g.64804355C>A | CA381177092 | MEN1 | c.1827G>T (p.Lys609Asn) c.*1120G>T (n.*1120G>T) c.1803G>T (p.Lys601Asn) c.1812G>T (p.Lys604Asn) c.*908G>T (n.*908G>T) c.1154G>T n.2305G>T n.1774G>T n.2313G>T n.2089G>T c.1938G>T (p.Lys646Asn) c.1647G>T (p.Lys549Asn) c.1707G>T (p.Lys569Asn) c.1953G>T (p.Lys651Asn) | ClinVar |
| 11 | g.64804355C= | CA1978916523 | MEN1 | c.1827G= (p.Lys609=) c.*1120G= (n.*1120G=) c.1803G= (p.Lys601=) c.1812G= (p.Lys604=) c.*908G= (n.*908G=) c.1154G= n.2305G= n.1774G= n.2313G= n.2089G= c.1938G= (p.Lys646=) c.1647G= (p.Lys549=) c.1707G= (p.Lys569=) c.1953G= (p.Lys651=) | |
| 11 | g.64804355C>G | CA381177094 | MEN1 | c.1827G>C (p.Lys609Asn) c.*1120G>C (n.*1120G>C) c.1803G>C (p.Lys601Asn) c.1812G>C (p.Lys604Asn) c.*908G>C (n.*908G>C) c.1154G>C n.2305G>C n.1774G>C n.2313G>C n.2089G>C c.1938G>C (p.Lys646Asn) c.1647G>C (p.Lys549Asn) c.1707G>C (p.Lys569Asn) c.1953G>C (p.Lys651Asn) | ClinVar |
| 11 | g.64804355C>T | CA475162889 | MEN1 | c.1827G>A (p.Lys609=) c.*1120G>A (n.*1120G>A) c.1803G>A (p.Lys601=) c.1812G>A (p.Lys604=) c.*908G>A (n.*908G>A) c.1154G>A n.2305G>A n.1774G>A n.2313G>A n.2089G>A c.1938G>A (p.Lys646=) c.1647G>A (p.Lys549=) c.1707G>A (p.Lys569=) c.1953G>A (p.Lys651=) | dbSNP gnomAD v4 |
| 11 | g.64804356T>A | CA381177097 | MEN1 | c.1826A>T (p.Lys609Met) c.*1119A>T (n.*1119A>T) c.1802A>T (p.Lys601Met) c.1811A>T (p.Lys604Met) c.*907A>T (n.*907A>T) c.1153A>T n.2304A>T n.1773A>T n.2312A>T n.2088A>T c.1937A>T (p.Lys646Met) c.1646A>T (p.Lys549Met) c.1706A>T (p.Lys569Met) c.1952A>T (p.Lys651Met) | |
| 11 | g.64804356T>C | CA381177099 | MEN1 | c.1826A>G (p.Lys609Arg) c.*1119A>G (n.*1119A>G) c.1802A>G (p.Lys601Arg) c.1811A>G (p.Lys604Arg) c.*907A>G (n.*907A>G) c.1153A>G n.2304A>G n.1773A>G n.2312A>G n.2088A>G c.1937A>G (p.Lys646Arg) c.1646A>G (p.Lys549Arg) c.1706A>G (p.Lys569Arg) c.1952A>G (p.Lys651Arg) | |
| 11 | g.64804356T>G | CA381177101 | MEN1 | c.1826A>C (p.Lys609Thr) c.*1119A>C (n.*1119A>C) c.1802A>C (p.Lys601Thr) c.1811A>C (p.Lys604Thr) c.*907A>C (n.*907A>C) c.1153A>C n.2304A>C n.1773A>C n.2312A>C n.2088A>C c.1937A>C (p.Lys646Thr) c.1646A>C (p.Lys549Thr) c.1706A>C (p.Lys569Thr) c.1952A>C (p.Lys651Thr) | ClinVar |
| 11 | g.64804357T>A | CA381177104 | MEN1 | c.1825A>T (p.Lys609Ter) c.*1118A>T (n.*1118A>T) c.1801A>T (p.Lys601Ter) c.1810A>T (p.Lys604Ter) c.*906A>T (n.*906A>T) c.1152A>T n.2303A>T n.1772A>T n.2311A>T n.2087A>T c.1936A>T (p.Lys646Ter) c.1645A>T (p.Lys549Ter) c.1705A>T (p.Lys569Ter) c.1951A>T (p.Lys651Ter) | |
| 11 | g.64804357T>C | CA381177106 | MEN1 | c.1825A>G (p.Lys609Glu) c.*1118A>G (n.*1118A>G) c.1801A>G (p.Lys601Glu) c.1810A>G (p.Lys604Glu) c.*906A>G (n.*906A>G) c.1152A>G n.2303A>G n.1772A>G n.2311A>G n.2087A>G c.1936A>G (p.Lys646Glu) c.1645A>G (p.Lys549Glu) c.1705A>G (p.Lys569Glu) c.1951A>G (p.Lys651Glu) | |
| 11 | g.64804357T>G | CA381177108 | MEN1 | c.1825A>C (p.Lys609Gln) c.*1118A>C (n.*1118A>C) c.1801A>C (p.Lys601Gln) c.1810A>C (p.Lys604Gln) c.*906A>C (n.*906A>C) c.1152A>C n.2303A>C n.1772A>C n.2311A>C n.2087A>C c.1936A>C (p.Lys646Gln) c.1645A>C (p.Lys549Gln) c.1705A>C (p.Lys569Gln) c.1951A>C (p.Lys651Gln) | |
| 11 | g.64804358G>A | CA475162893 | MEN1 | c.1824C>T (p.Leu608=) c.*1117C>T (n.*1117C>T) c.1800C>T (p.Leu600=) c.1809C>T (p.Leu603=) c.*905C>T (n.*905C>T) c.1151C>T n.2302C>T n.1771C>T n.2310C>T n.2086C>T c.1935C>T (p.Leu645=) c.1644C>T (p.Leu548=) c.1704C>T (p.Leu568=) c.1950C>T (p.Leu650=) | |
| 11 | g.64804358G>C | CA475162897 | MEN1 | c.1824C>G (p.Leu608=) c.*1117C>G (n.*1117C>G) c.1800C>G (p.Leu600=) c.1809C>G (p.Leu603=) c.*905C>G (n.*905C>G) c.1151C>G n.2302C>G n.1771C>G n.2310C>G n.2086C>G c.1935C>G (p.Leu645=) c.1644C>G (p.Leu548=) c.1704C>G (p.Leu568=) c.1950C>G (p.Leu650=) | COSMIC |
| 11 | g.64804358G>T | CA475162895 | MEN1 | c.1824C>A (p.Leu608=) c.*1117C>A (n.*1117C>A) c.1800C>A (p.Leu600=) c.1809C>A (p.Leu603=) c.*905C>A (n.*905C>A) c.1151C>A n.2302C>A n.1771C>A n.2310C>A n.2086C>A c.1935C>A (p.Leu645=) c.1644C>A (p.Leu548=) c.1704C>A (p.Leu568=) c.1950C>A (p.Leu650=) | |
| 11 | g.64804359A>C | CA381177112 | MEN1 | c.1823T>G (p.Leu608Arg) c.*1116T>G (n.*1116T>G) c.1799T>G (p.Leu600Arg) c.1808T>G (p.Leu603Arg) c.*904T>G (n.*904T>G) c.1150T>G n.2301T>G n.1770T>G n.2309T>G n.2085T>G c.1934T>G (p.Leu645Arg) c.1643T>G (p.Leu548Arg) c.1703T>G (p.Leu568Arg) c.1949T>G (p.Leu650Arg) | |
| 11 | g.64804359A>G | CA381177114 | MEN1 | c.1823T>C (p.Leu608Pro) c.*1116T>C (n.*1116T>C) c.1799T>C (p.Leu600Pro) c.1808T>C (p.Leu603Pro) c.*904T>C (n.*904T>C) c.1150T>C n.2301T>C n.1770T>C n.2309T>C n.2085T>C c.1934T>C (p.Leu645Pro) c.1643T>C (p.Leu548Pro) c.1703T>C (p.Leu568Pro) c.1949T>C (p.Leu650Pro) | |
| 11 | g.64804359A>T | CA381177116 | MEN1 | c.1823T>A (p.Leu608His) c.*1116T>A (n.*1116T>A) c.1799T>A (p.Leu600His) c.1808T>A (p.Leu603His) c.*904T>A (n.*904T>A) c.1150T>A n.2301T>A n.1770T>A n.2309T>A n.2085T>A c.1934T>A (p.Leu645His) c.1643T>A (p.Leu548His) c.1703T>A (p.Leu568His) c.1949T>A (p.Leu650His) | |
| 11 | g.64804360G>A | CA381177120 | MEN1 | c.1822C>T (p.Leu608Phe) c.*1115C>T (n.*1115C>T) c.1798C>T (p.Leu600Phe) c.1807C>T (p.Leu603Phe) c.*903C>T (n.*903C>T) c.1149C>T n.2300C>T n.1769C>T n.2308C>T n.2084C>T c.1933C>T (p.Leu645Phe) c.1642C>T (p.Leu548Phe) c.1702C>T (p.Leu568Phe) c.1948C>T (p.Leu650Phe) | dbSNP gnomAD v4 |
| 11 | g.64804360G>C | CA381177121 | MEN1 | c.1822C>G (p.Leu608Val) c.*1115C>G (n.*1115C>G) c.1798C>G (p.Leu600Val) c.1807C>G (p.Leu603Val) c.*903C>G (n.*903C>G) c.1149C>G n.2300C>G n.1769C>G n.2308C>G n.2084C>G c.1933C>G (p.Leu645Val) c.1642C>G (p.Leu548Val) c.1702C>G (p.Leu568Val) c.1948C>G (p.Leu650Val) |