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.64804438_64804459delinsGCTTGATGGCGCTCGAGTTGAT | CA1978916862 | MEN1 | c.1723_1744delinsATCAACTCGAGCGCCATCAAGC (p.Ile575=) c.*1016_*1037delinsATCAACTCGAGCGCCATCAAGC (n.*1016_*1037delinsATCAACTCGAGCGCCATCAAGC) c.1699_1720delinsATCAACTCGAGCGCCATCAAGC (p.Ile567=) c.1708_1729delinsATCAACTCGAGCGCCATCAAGC (p.Ile570=) c.*804_*825delinsATCAACTCGAGCGCCATCAAGC (n.*804_*825delinsATCAACTCGAGCGCCATCAAGC) c.1050_1071delinsATCAACTCGAGCGCCATCAAGC n.2201_2222delinsATCAACTCGAGCGCCATCAAGC n.1670_1691delinsATCAACTCGAGCGCCATCAAGC n.2209_2230delinsATCAACTCGAGCGCCATCAAGC n.1985_2006delinsATCAACTCGAGCGCCATCAAGC c.1834_1855delinsATCAACTCGAGCGCCATCAAGC (p.Ile612=) c.1543_1564delinsATCAACTCGAGCGCCATCAAGC (p.Ile515=) c.1603_1624delinsATCAACTCGAGCGCCATCAAGC (p.Ile535=) n.1257_1278delinsATCAACTCGAGCGCCATCAAGC c.1849_1870delinsATCAACTCGAGCGCCATCAAGC (p.Ile617=) | |
| 11 | g.64804443_64804463del | CA645369563 | MEN1 | c.1723_1743del (p.Ile575_Lys581del) c.*1016_*1036del (n.*1016_*1036del) c.1699_1719del (p.Ile567_Lys573del) c.1708_1728del (p.Ile570_Lys576del) c.*804_*824del (n.*804_*824del) c.1050_1070del n.2201_2221del n.1670_1690del n.2209_2229del n.1985_2005del c.1834_1854del (p.Ile612_Lys618del) c.1543_1563del (p.Ile515_Lys521del) c.1603_1623del (p.Ile535_Lys541del) n.1257_1277del c.1849_1869del (p.Ile617_Lys623del) | ClinVar dbSNP |
| 11 | g.64804445_64804450del | CA645574103 | MEN1 | c.1733_1738del (p.Ser578_Ala579del) c.*1026_*1031del (n.*1026_*1031del) c.1709_1714del (p.Ser570_Ala571del) c.1718_1723del (p.Ser573_Ala574del) c.*814_*819del (n.*814_*819del) c.1060_1065del n.2211_2216del n.1680_1685del n.2219_2224del n.1995_2000del c.1844_1849del (p.Ser615_Ala616del) c.1553_1558del (p.Ser518_Ala519del) c.1613_1618del (p.Ser538_Ala539del) n.1267_1272del c.1859_1864del (p.Ser620_Ala621del) | COSMIC |
| 11 | g.64804445_64804524delinsGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGAC | CA1978916904 | MEN1 | c.1658_1737delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly553=) c.*951_*1030delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (n.*951_*1030delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC) c.1634_1713delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly545=) c.1643_1722delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly548=) c.*739_*818delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (n.*739_*818delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC) c.985_1064delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC n.2136_2215delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC n.1605_1684delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC n.2144_2223delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC n.1920_1999delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC c.1769_1848delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly590=) c.1478_1557delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly493=) c.1538_1617delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly513=) n.1192_1271delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC c.1784_1863delinsGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAAGGAGCTGCTGGTGGCCACCAAGATCAACTCGAGCGCC (p.Gly595=) | |
| 11 | g.64804446G>A | CA381177573 | MEN1 | c.1736C>T (p.Ala579Val) c.*1029C>T (n.*1029C>T) c.1712C>T (p.Ala571Val) c.1721C>T (p.Ala574Val) c.*817C>T (n.*817C>T) c.1063C>T n.2214C>T n.1683C>T n.2222C>T n.1998C>T c.1847C>T (p.Ala616Val) c.1556C>T (p.Ala519Val) c.1616C>T (p.Ala539Val) n.1270C>T c.1862C>T (p.Ala621Val) | |
| 11 | g.64804446G>C | CA381177575 | MEN1 | c.1736C>G (p.Ala579Gly) c.*1029C>G (n.*1029C>G) c.1712C>G (p.Ala571Gly) c.1721C>G (p.Ala574Gly) c.*817C>G (n.*817C>G) c.1063C>G n.2214C>G n.1683C>G n.2222C>G n.1998C>G c.1847C>G (p.Ala616Gly) c.1556C>G (p.Ala519Gly) c.1616C>G (p.Ala539Gly) n.1270C>G c.1862C>G (p.Ala621Gly) | |
| 11 | g.64804446G>T | CA381177578 | MEN1 | c.1736C>A (p.Ala579Asp) c.*1029C>A (n.*1029C>A) c.1712C>A (p.Ala571Asp) c.1721C>A (p.Ala574Asp) c.*817C>A (n.*817C>A) c.1063C>A n.2214C>A n.1683C>A n.2222C>A n.1998C>A c.1847C>A (p.Ala616Asp) c.1556C>A (p.Ala519Asp) c.1616C>A (p.Ala539Asp) n.1270C>A c.1862C>A (p.Ala621Asp) | |
| 11 | g.64804447_64804452del | CA645574104 | MEN1 | c.1731_1736del (p.Ser578_Ala579del) c.*1024_*1029del (n.*1024_*1029del) c.1707_1712del (p.Ser570_Ala571del) c.1716_1721del (p.Ser573_Ala574del) c.*812_*817del (n.*812_*817del) c.1058_1063del n.2209_2214del n.1678_1683del n.2217_2222del n.1993_1998del c.1842_1847del (p.Ser615_Ala616del) c.1551_1556del (p.Ser518_Ala519del) c.1611_1616del (p.Ser538_Ala539del) n.1265_1270del c.1857_1862del (p.Ser620_Ala621del) | COSMIC |
| 11 | g.64804446_64804468del | CA2499221137 | MEN1 | c.1714_1736del (p.Ala572HisfsTer22) c.*1007_*1029del (n.*1007_*1029del) c.1690_1712del (p.Ala564HisfsTer22) c.1699_1721del (p.Ala567HisfsTer22) c.*795_*817del (n.*795_*817del) c.1041_1063del n.2192_2214del n.1661_1683del n.2200_2222del n.1976_1998del c.1825_1847del (p.Ala609HisfsTer22) c.1534_1556del (p.Ala512HisfsTer22) c.1594_1616del (p.Ala532HisfsTer22) n.1248_1270del c.1840_1862del (p.Ala614HisfsTer22) | dbSNP |
| 11 | g.64804446_64804524delinsCA | CA645369564 | MEN1 | c.1658_1736delinsTG (p.Gly553ValfsTer23) c.*951_*1029delinsTG (n.*951_*1029delinsTG) c.1634_1712delinsTG (p.Gly545ValfsTer23) c.1643_1721delinsTG (p.Gly548ValfsTer23) c.*739_*817delinsTG (n.*739_*817delinsTG) c.985_1063delinsTG n.2136_2214delinsTG n.1605_1683delinsTG n.2144_2222delinsTG n.1920_1998delinsTG c.1769_1847delinsTG (p.Gly590ValfsTer23) c.1478_1556delinsTG (p.Gly493ValfsTer23) c.1538_1616delinsTG (p.Gly513ValfsTer23) n.1192_1270delinsTG c.1784_1862delinsTG (p.Gly595ValfsTer23) | ClinVar dbSNP |
| 11 | g.64804447C>A | CA381177579 | MEN1 | c.1735G>T (p.Ala579Ser) c.*1028G>T (n.*1028G>T) c.1711G>T (p.Ala571Ser) c.1720G>T (p.Ala574Ser) c.*816G>T (n.*816G>T) c.1062G>T n.2213G>T n.1682G>T n.2221G>T n.1997G>T c.1846G>T (p.Ala616Ser) c.1555G>T (p.Ala519Ser) c.1615G>T (p.Ala539Ser) n.1269G>T c.1861G>T (p.Ala621Ser) | COSMIC |
| 11 | g.64804447C>G | CA381177581 | MEN1 | c.1735G>C (p.Ala579Pro) c.*1028G>C (n.*1028G>C) c.1711G>C (p.Ala571Pro) c.1720G>C (p.Ala574Pro) c.*816G>C (n.*816G>C) c.1062G>C n.2213G>C n.1682G>C n.2221G>C n.1997G>C c.1846G>C (p.Ala616Pro) c.1555G>C (p.Ala519Pro) c.1615G>C (p.Ala539Pro) n.1269G>C c.1861G>C (p.Ala621Pro) | dbSNP |
| 11 | g.64804447C>T | CA381177582 | MEN1 | c.1735G>A (p.Ala579Thr) c.*1028G>A (n.*1028G>A) c.1711G>A (p.Ala571Thr) c.1720G>A (p.Ala574Thr) c.*816G>A (n.*816G>A) c.1062G>A n.2213G>A n.1682G>A n.2221G>A n.1997G>A c.1846G>A (p.Ala616Thr) c.1555G>A (p.Ala519Thr) c.1615G>A (p.Ala539Thr) n.1269G>A c.1861G>A (p.Ala621Thr) | ClinVar dbSNP |
| 11 | g.64804448G>A | CA475163225 | MEN1 | c.1734C>T (p.Ser578=) c.*1027C>T (n.*1027C>T) c.1710C>T (p.Ser570=) c.1719C>T (p.Ser573=) c.*815C>T (n.*815C>T) c.1061C>T n.2212C>T n.1681C>T n.2220C>T n.1996C>T c.1845C>T (p.Ser615=) c.1554C>T (p.Ser518=) c.1614C>T (p.Ser538=) n.1268C>T c.1860C>T (p.Ser620=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64804448G>C | CA381177584 | MEN1 | c.1734C>G (p.Ser578Arg) c.*1027C>G (n.*1027C>G) c.1710C>G (p.Ser570Arg) c.1719C>G (p.Ser573Arg) c.*815C>G (n.*815C>G) c.1061C>G n.2212C>G n.1681C>G n.2220C>G n.1996C>G c.1845C>G (p.Ser615Arg) c.1554C>G (p.Ser518Arg) c.1614C>G (p.Ser538Arg) n.1268C>G c.1860C>G (p.Ser620Arg) | |
| 11 | g.64804448G= | CA1978916912 | MEN1 | c.1734C= (p.Ser578=) c.*1027C= (n.*1027C=) c.1710C= (p.Ser570=) c.1719C= (p.Ser573=) c.*815C= (n.*815C=) c.1061C= n.2212C= n.1681C= n.2220C= n.1996C= c.1845C= (p.Ser615=) c.1554C= (p.Ser518=) c.1614C= (p.Ser538=) n.1268C= c.1860C= (p.Ser620=) | |
| 11 | g.64804448G>T | CA381177585 | MEN1 | c.1734C>A (p.Ser578Arg) c.*1027C>A (n.*1027C>A) c.1710C>A (p.Ser570Arg) c.1719C>A (p.Ser573Arg) c.*815C>A (n.*815C>A) c.1061C>A n.2212C>A n.1681C>A n.2220C>A n.1996C>A c.1845C>A (p.Ser615Arg) c.1554C>A (p.Ser518Arg) c.1614C>A (p.Ser538Arg) n.1268C>A c.1860C>A (p.Ser620Arg) | |
| 11 | g.64804449C>A | CA381177587 | MEN1 | c.1733G>T (p.Ser578Ile) c.*1026G>T (n.*1026G>T) c.1709G>T (p.Ser570Ile) c.1718G>T (p.Ser573Ile) c.*814G>T (n.*814G>T) c.1060G>T n.2211G>T n.1680G>T n.2219G>T n.1995G>T c.1844G>T (p.Ser615Ile) c.1553G>T (p.Ser518Ile) c.1613G>T (p.Ser538Ile) n.1267G>T c.1859G>T (p.Ser620Ile) | |
| 11 | g.64804449C= | CA1978916915 | MEN1 | c.1733G= (p.Ser578=) c.*1026G= (n.*1026G=) c.1709G= (p.Ser570=) c.1718G= (p.Ser573=) c.*814G= (n.*814G=) c.1060G= n.2211G= n.1680G= n.2219G= n.1995G= c.1844G= (p.Ser615=) c.1553G= (p.Ser518=) c.1613G= (p.Ser538=) n.1267G= c.1859G= (p.Ser620=) | |
| 11 | g.64804449C>G | CA381177589 | MEN1 | c.1733G>C (p.Ser578Thr) c.*1026G>C (n.*1026G>C) c.1709G>C (p.Ser570Thr) c.1718G>C (p.Ser573Thr) c.*814G>C (n.*814G>C) c.1060G>C n.2211G>C n.1680G>C n.2219G>C n.1995G>C c.1844G>C (p.Ser615Thr) c.1553G>C (p.Ser518Thr) c.1613G>C (p.Ser538Thr) n.1267G>C c.1859G>C (p.Ser620Thr) | |
| 11 | g.64804449C>T | CA381177591 | MEN1 | c.1733G>A (p.Ser578Asn) c.*1026G>A (n.*1026G>A) c.1709G>A (p.Ser570Asn) c.1718G>A (p.Ser573Asn) c.*814G>A (n.*814G>A) c.1060G>A n.2211G>A n.1680G>A n.2219G>A n.1995G>A c.1844G>A (p.Ser615Asn) c.1553G>A (p.Ser518Asn) c.1613G>A (p.Ser538Asn) n.1267G>A c.1859G>A (p.Ser620Asn) | ClinVar dbSNP gnomAD v2 |
| 11 | g.64804450T>A | CA381177594 | MEN1 | c.1732A>T (p.Ser578Cys) c.*1025A>T (n.*1025A>T) c.1708A>T (p.Ser570Cys) c.1717A>T (p.Ser573Cys) c.*813A>T (n.*813A>T) c.1059A>T n.2210A>T n.1679A>T n.2218A>T n.1994A>T c.1843A>T (p.Ser615Cys) c.1552A>T (p.Ser518Cys) c.1612A>T (p.Ser538Cys) n.1266A>T c.1858A>T (p.Ser620Cys) | dbSNP |
| 11 | g.64804450T>C | CA381177595 | MEN1 | c.1732A>G (p.Ser578Gly) c.*1025A>G (n.*1025A>G) c.1708A>G (p.Ser570Gly) c.1717A>G (p.Ser573Gly) c.*813A>G (n.*813A>G) c.1059A>G n.2210A>G n.1679A>G n.2218A>G n.1994A>G c.1843A>G (p.Ser615Gly) c.1552A>G (p.Ser518Gly) c.1612A>G (p.Ser538Gly) n.1266A>G c.1858A>G (p.Ser620Gly) | gnomAD v4 |
| 11 | g.64804450T>G | CA381177597 | MEN1 | c.1732A>C (p.Ser578Arg) c.*1025A>C (n.*1025A>C) c.1708A>C (p.Ser570Arg) c.1717A>C (p.Ser573Arg) c.*813A>C (n.*813A>C) c.1059A>C n.2210A>C n.1679A>C n.2218A>C n.1994A>C c.1843A>C (p.Ser615Arg) c.1552A>C (p.Ser518Arg) c.1612A>C (p.Ser538Arg) n.1266A>C c.1858A>C (p.Ser620Arg) | |
| 11 | g.64804451C>A | CA475163231 | MEN1 | c.1731G>T (p.Ser577=) c.*1024G>T (n.*1024G>T) c.1707G>T (p.Ser569=) c.1716G>T (p.Ser572=) c.*812G>T (n.*812G>T) c.1058G>T n.2209G>T n.1678G>T n.2217G>T n.1993G>T c.1842G>T (p.Ser614=) c.1551G>T (p.Ser517=) c.1611G>T (p.Ser537=) n.1265G>T c.1857G>T (p.Ser619=) | dbSNP |
| 11 | g.64804451C= | CA1978917042 | MEN1 | c.1731G= (p.Ser577=) c.*1024G= (n.*1024G=) c.1707G= (p.Ser569=) c.1716G= (p.Ser572=) c.*812G= (n.*812G=) c.1058G= n.2209G= n.1678G= n.2217G= n.1993G= c.1842G= (p.Ser614=) c.1551G= (p.Ser517=) c.1611G= (p.Ser537=) n.1265G= c.1857G= (p.Ser619=) | |
| 11 | g.64804451C>G | CA475163233 | MEN1 | c.1731G>C (p.Ser577=) c.*1024G>C (n.*1024G>C) c.1707G>C (p.Ser569=) c.1716G>C (p.Ser572=) c.*812G>C (n.*812G>C) c.1058G>C n.2209G>C n.1678G>C n.2217G>C n.1993G>C c.1842G>C (p.Ser614=) c.1551G>C (p.Ser517=) c.1611G>C (p.Ser537=) n.1265G>C c.1857G>C (p.Ser619=) | |
| 11 | g.64804451C>T | CA475163234 | MEN1 | c.1731G>A (p.Ser577=) c.*1024G>A (n.*1024G>A) c.1707G>A (p.Ser569=) c.1716G>A (p.Ser572=) c.*812G>A (n.*812G>A) c.1058G>A n.2209G>A n.1678G>A n.2217G>A n.1993G>A c.1842G>A (p.Ser614=) c.1551G>A (p.Ser517=) c.1611G>A (p.Ser537=) n.1265G>A c.1857G>A (p.Ser619=) | ClinVar dbSNP gnomAD v2 COSMIC |
| 11 | g.64804451_64804457delinsCGAGTTG | CA1978916929 | MEN1 | c.1725_1731delinsCAACTCG (p.Ile575=) c.*1018_*1024delinsCAACTCG (n.*1018_*1024delinsCAACTCG) c.1701_1707delinsCAACTCG (p.Ile567=) c.1710_1716delinsCAACTCG (p.Ile570=) c.*806_*812delinsCAACTCG (n.*806_*812delinsCAACTCG) c.1052_1058delinsCAACTCG n.2203_2209delinsCAACTCG n.1672_1678delinsCAACTCG n.2211_2217delinsCAACTCG n.1987_1993delinsCAACTCG c.1836_1842delinsCAACTCG (p.Ile612=) c.1545_1551delinsCAACTCG (p.Ile515=) c.1605_1611delinsCAACTCG (p.Ile535=) n.1259_1265delinsCAACTCG c.1851_1857delinsCAACTCG (p.Ile617=) | |
| 11 | g.64804452G>A | CA381177600 | MEN1 | c.1730C>T (p.Ser577Leu) c.*1023C>T (n.*1023C>T) c.1706C>T (p.Ser569Leu) c.1715C>T (p.Ser572Leu) c.*811C>T (n.*811C>T) c.1057C>T n.2208C>T n.1677C>T n.2216C>T n.1992C>T c.1841C>T (p.Ser614Leu) c.1550C>T (p.Ser517Leu) c.1610C>T (p.Ser537Leu) n.1264C>T c.1856C>T (p.Ser619Leu) | dbSNP COSMIC |
| 11 | g.64804452G>C | CA381177601 | MEN1 | c.1730C>G (p.Ser577Trp) c.*1023C>G (n.*1023C>G) c.1706C>G (p.Ser569Trp) c.1715C>G (p.Ser572Trp) c.*811C>G (n.*811C>G) c.1057C>G n.2208C>G n.1677C>G n.2216C>G n.1992C>G c.1841C>G (p.Ser614Trp) c.1550C>G (p.Ser517Trp) c.1610C>G (p.Ser537Trp) n.1264C>G c.1856C>G (p.Ser619Trp) | |
| 11 | g.64804452G>T | CA381177603 | MEN1 | c.1730C>A (p.Ser577Ter) c.*1023C>A (n.*1023C>A) c.1706C>A (p.Ser569Ter) c.1715C>A (p.Ser572Ter) c.*811C>A (n.*811C>A) c.1057C>A n.2208C>A n.1677C>A n.2216C>A n.1992C>A c.1841C>A (p.Ser614Ter) c.1550C>A (p.Ser517Ter) c.1610C>A (p.Ser537Ter) n.1264C>A c.1856C>A (p.Ser619Ter) | |
| 11 | g.64804453_64804454del | CA2695214486 | MEN1 | c.1729_1730del (p.Ser577GlufsTer24) c.*1022_*1023del (n.*1022_*1023del) c.1705_1706del (p.Ser569GlufsTer24) c.1714_1715del (p.Ser572GlufsTer24) c.*810_*811del (n.*810_*811del) c.1056_1057del n.2207_2208del n.1676_1677del n.2215_2216del n.1991_1992del c.1840_1841del (p.Ser614GlufsTer24) c.1549_1550del (p.Ser517GlufsTer24) c.1609_1610del (p.Ser537GlufsTer24) n.1263_1264del c.1855_1856del (p.Ser619GlufsTer24) | |
| 11 | g.64804452_64804457del | CA009289 | MEN1 | c.1725_1730del (p.Ile575_Ser577delinsMet) c.*1018_*1023del (n.*1018_*1023del) c.1701_1706del (p.Ile567_Ser569delinsMet) c.1710_1715del (p.Ile570_Ser572delinsMet) c.*806_*811del (n.*806_*811del) c.1052_1057del n.2203_2208del n.1672_1677del n.2211_2216del n.1987_1992del c.1836_1841del (p.Ile612_Ser614delinsMet) c.1545_1550del (p.Ile515_Ser517delinsMet) c.1605_1610del (p.Ile535_Ser537delinsMet) n.1259_1264del c.1851_1856del (p.Ile617_Ser619delinsMet) | ClinVar dbSNP |
| 11 | g.64804453A>C | CA381177606 | MEN1 | c.1729T>G (p.Ser577Ala) c.*1022T>G (n.*1022T>G) c.1705T>G (p.Ser569Ala) c.1714T>G (p.Ser572Ala) c.*810T>G (n.*810T>G) c.1056T>G n.2207T>G n.1676T>G n.2215T>G n.1991T>G c.1840T>G (p.Ser614Ala) c.1549T>G (p.Ser517Ala) c.1609T>G (p.Ser537Ala) n.1263T>G c.1855T>G (p.Ser619Ala) | |
| 11 | g.64804453A>G | CA381177605 | MEN1 | c.1729T>C (p.Ser577Pro) c.*1022T>C (n.*1022T>C) c.1705T>C (p.Ser569Pro) c.1714T>C (p.Ser572Pro) c.*810T>C (n.*810T>C) c.1056T>C n.2207T>C n.1676T>C n.2215T>C n.1991T>C c.1840T>C (p.Ser614Pro) c.1549T>C (p.Ser517Pro) c.1609T>C (p.Ser537Pro) n.1263T>C c.1855T>C (p.Ser619Pro) | |
| 11 | g.64804453A>T | CA381177604 | MEN1 | c.1729T>A (p.Ser577Thr) c.*1022T>A (n.*1022T>A) c.1705T>A (p.Ser569Thr) c.1714T>A (p.Ser572Thr) c.*810T>A (n.*810T>A) c.1056T>A n.2207T>A n.1676T>A n.2215T>A n.1991T>A c.1840T>A (p.Ser614Thr) c.1549T>A (p.Ser517Thr) c.1609T>A (p.Ser537Thr) n.1263T>A c.1855T>A (p.Ser619Thr) | |
| 11 | g.64804454G>A | CA475163249 | MEN1 | c.1728C>T (p.Asn576=) c.*1021C>T (n.*1021C>T) c.1704C>T (p.Asn568=) c.1713C>T (p.Asn571=) c.*809C>T (n.*809C>T) c.1055C>T n.2206C>T n.1675C>T n.2214C>T n.1990C>T c.1839C>T (p.Asn613=) c.1548C>T (p.Asn516=) c.1608C>T (p.Asn536=) n.1262C>T c.1854C>T (p.Asn618=) | ClinVar dbSNP |
| 11 | g.64804454G>C | CA381177607 | MEN1 | c.1728C>G (p.Asn576Lys) c.*1021C>G (n.*1021C>G) c.1704C>G (p.Asn568Lys) c.1713C>G (p.Asn571Lys) c.*809C>G (n.*809C>G) c.1055C>G n.2206C>G n.1675C>G n.2214C>G n.1990C>G c.1839C>G (p.Asn613Lys) c.1548C>G (p.Asn516Lys) c.1608C>G (p.Asn536Lys) n.1262C>G c.1854C>G (p.Asn618Lys) | |
| 11 | g.64804454G= | CA1978917055 | MEN1 | c.1728C= (p.Asn576=) c.*1021C= (n.*1021C=) c.1704C= (p.Asn568=) c.1713C= (p.Asn571=) c.*809C= (n.*809C=) c.1055C= n.2206C= n.1675C= n.2214C= n.1990C= c.1839C= (p.Asn613=) c.1548C= (p.Asn516=) c.1608C= (p.Asn536=) n.1262C= c.1854C= (p.Asn618=) | |
| 11 | g.64804454G>T | CA381177608 | MEN1 | c.1728C>A (p.Asn576Lys) c.*1021C>A (n.*1021C>A) c.1704C>A (p.Asn568Lys) c.1713C>A (p.Asn571Lys) c.*809C>A (n.*809C>A) c.1055C>A n.2206C>A n.1675C>A n.2214C>A n.1990C>A c.1839C>A (p.Asn613Lys) c.1548C>A (p.Asn516Lys) c.1608C>A (p.Asn536Lys) n.1262C>A c.1854C>A (p.Asn618Lys) | |
| 11 | g.64804455T>A | CA381177609 | MEN1 | c.1727A>T (p.Asn576Ile) c.*1020A>T (n.*1020A>T) c.1703A>T (p.Asn568Ile) c.1712A>T (p.Asn571Ile) c.*808A>T (n.*808A>T) c.1054A>T n.2205A>T n.1674A>T n.2213A>T n.1989A>T c.1838A>T (p.Asn613Ile) c.1547A>T (p.Asn516Ile) c.1607A>T (p.Asn536Ile) n.1261A>T c.1853A>T (p.Asn618Ile) | dbSNP |
| 11 | g.64804455T>C | CA381177610 | MEN1 | c.1727A>G (p.Asn576Ser) c.*1020A>G (n.*1020A>G) c.1703A>G (p.Asn568Ser) c.1712A>G (p.Asn571Ser) c.*808A>G (n.*808A>G) c.1054A>G n.2205A>G n.1674A>G n.2213A>G n.1989A>G c.1838A>G (p.Asn613Ser) c.1547A>G (p.Asn516Ser) c.1607A>G (p.Asn536Ser) n.1261A>G c.1853A>G (p.Asn618Ser) | |
| 11 | g.64804455T>G | CA381177611 | MEN1 | c.1727A>C (p.Asn576Thr) c.*1020A>C (n.*1020A>C) c.1703A>C (p.Asn568Thr) c.1712A>C (p.Asn571Thr) c.*808A>C (n.*808A>C) c.1054A>C n.2205A>C n.1674A>C n.2213A>C n.1989A>C c.1838A>C (p.Asn613Thr) c.1547A>C (p.Asn516Thr) c.1607A>C (p.Asn536Thr) n.1261A>C c.1853A>C (p.Asn618Thr) | dbSNP |
| 11 | g.64804456T>A | CA381177612 | MEN1 | c.1726A>T (p.Asn576Tyr) c.*1019A>T (n.*1019A>T) c.1702A>T (p.Asn568Tyr) c.1711A>T (p.Asn571Tyr) c.*807A>T (n.*807A>T) c.1053A>T n.2204A>T n.1673A>T n.2212A>T n.1988A>T c.1837A>T (p.Asn613Tyr) c.1546A>T (p.Asn516Tyr) c.1606A>T (p.Asn536Tyr) n.1260A>T c.1852A>T (p.Asn618Tyr) | |
| 11 | g.64804456T>C | CA381177613 | MEN1 | c.1726A>G (p.Asn576Asp) c.*1019A>G (n.*1019A>G) c.1702A>G (p.Asn568Asp) c.1711A>G (p.Asn571Asp) c.*807A>G (n.*807A>G) c.1053A>G n.2204A>G n.1673A>G n.2212A>G n.1988A>G c.1837A>G (p.Asn613Asp) c.1546A>G (p.Asn516Asp) c.1606A>G (p.Asn536Asp) n.1260A>G c.1852A>G (p.Asn618Asp) | |
| 11 | g.64804456T>G | CA381177614 | MEN1 | c.1726A>C (p.Asn576His) c.*1019A>C (n.*1019A>C) c.1702A>C (p.Asn568His) c.1711A>C (p.Asn571His) c.*807A>C (n.*807A>C) c.1053A>C n.2204A>C n.1673A>C n.2212A>C n.1988A>C c.1837A>C (p.Asn613His) c.1546A>C (p.Asn516His) c.1606A>C (p.Asn536His) n.1260A>C c.1852A>C (p.Asn618His) |