UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.64804416T>A | CA381177454 | MEN1 | c.1766A>T (p.Gln589Leu) c.*1059A>T (n.*1059A>T) c.1742A>T (p.Gln581Leu) c.1751A>T (p.Gln584Leu) c.*847A>T (n.*847A>T) c.1093A>T n.2244A>T n.1713A>T n.2252A>T n.2028A>T c.1877A>T (p.Gln626Leu) c.1586A>T (p.Gln529Leu) c.1646A>T (p.Gln549Leu) n.1300A>T c.1892A>T (p.Gln631Leu) | |
| 11 | g.64804416T>C | CA381177456 | MEN1 | c.1766A>G (p.Gln589Arg) c.*1059A>G (n.*1059A>G) c.1742A>G (p.Gln581Arg) c.1751A>G (p.Gln584Arg) c.*847A>G (n.*847A>G) c.1093A>G n.2244A>G n.1713A>G n.2252A>G n.2028A>G c.1877A>G (p.Gln626Arg) c.1586A>G (p.Gln529Arg) c.1646A>G (p.Gln549Arg) n.1300A>G c.1892A>G (p.Gln631Arg) | |
| 11 | g.64804416T>G | CA381177457 | MEN1 | c.1766A>C (p.Gln589Pro) c.*1059A>C (n.*1059A>C) c.1742A>C (p.Gln581Pro) c.1751A>C (p.Gln584Pro) c.*847A>C (n.*847A>C) c.1093A>C n.2244A>C n.1713A>C n.2252A>C n.2028A>C c.1877A>C (p.Gln626Pro) c.1586A>C (p.Gln529Pro) c.1646A>C (p.Gln549Pro) n.1300A>C c.1892A>C (p.Gln631Pro) | |
| 11 | g.64804417G>A | CA381177459 | MEN1 | c.1765C>T (p.Gln589Ter) c.*1058C>T (n.*1058C>T) c.1741C>T (p.Gln581Ter) c.1750C>T (p.Gln584Ter) c.*846C>T (n.*846C>T) c.1092C>T n.2243C>T n.1712C>T n.2251C>T n.2027C>T c.1876C>T (p.Gln626Ter) c.1585C>T (p.Gln529Ter) c.1645C>T (p.Gln549Ter) n.1299C>T c.1891C>T (p.Gln631Ter) | dbSNP |
| 11 | g.64804417G>C | CA381177461 | MEN1 | c.1765C>G (p.Gln589Glu) c.*1058C>G (n.*1058C>G) c.1741C>G (p.Gln581Glu) c.1750C>G (p.Gln584Glu) c.*846C>G (n.*846C>G) c.1092C>G n.2243C>G n.1712C>G n.2251C>G n.2027C>G c.1876C>G (p.Gln626Glu) c.1585C>G (p.Gln529Glu) c.1645C>G (p.Gln549Glu) n.1299C>G c.1891C>G (p.Gln631Glu) | |
| 11 | g.64804417G>T | CA381177463 | MEN1 | c.1765C>A (p.Gln589Lys) c.*1058C>A (n.*1058C>A) c.1741C>A (p.Gln581Lys) c.1750C>A (p.Gln584Lys) c.*846C>A (n.*846C>A) c.1092C>A n.2243C>A n.1712C>A n.2251C>A n.2027C>A c.1876C>A (p.Gln626Lys) c.1585C>A (p.Gln529Lys) c.1645C>A (p.Gln549Lys) n.1299C>A c.1891C>A (p.Gln631Lys) | |
| 11 | g.64804418C>A | CA475163108 | MEN1 | c.1764G>T (p.Ser588=) c.*1057G>T (n.*1057G>T) c.1740G>T (p.Ser580=) c.1749G>T (p.Ser583=) c.*845G>T (n.*845G>T) c.1091G>T n.2242G>T n.1711G>T n.2250G>T n.2026G>T c.1875G>T (p.Ser625=) c.1584G>T (p.Ser528=) c.1644G>T (p.Ser548=) n.1298G>T c.1890G>T (p.Ser630=) | ClinVar dbSNP |
| 11 | g.64804418C= | CA1978916716 | MEN1 | c.1764G= (p.Ser588=) c.*1057G= (n.*1057G=) c.1740G= (p.Ser580=) c.1749G= (p.Ser583=) c.*845G= (n.*845G=) c.1091G= n.2242G= n.1711G= n.2250G= n.2026G= c.1875G= (p.Ser625=) c.1584G= (p.Ser528=) c.1644G= (p.Ser548=) n.1298G= c.1890G= (p.Ser630=) | |
| 11 | g.64804418C>G | CA060934 | MEN1 | c.1764G>C (p.Ser588=) c.*1057G>C (n.*1057G>C) c.1740G>C (p.Ser580=) c.1749G>C (p.Ser583=) c.*845G>C (n.*845G>C) c.1091G>C n.2242G>C n.1711G>C n.2250G>C n.2026G>C c.1875G>C (p.Ser625=) c.1584G>C (p.Ser528=) c.1644G>C (p.Ser548=) n.1298G>C c.1890G>C (p.Ser630=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64804418C>T | CA475163110 | MEN1 | c.1764G>A (p.Ser588=) c.*1057G>A (n.*1057G>A) c.1740G>A (p.Ser580=) c.1749G>A (p.Ser583=) c.*845G>A (n.*845G>A) c.1091G>A n.2242G>A n.1711G>A n.2250G>A n.2026G>A c.1875G>A (p.Ser625=) c.1584G>A (p.Ser528=) c.1644G>A (p.Ser548=) n.1298G>A c.1890G>A (p.Ser630=) | dbSNP gnomAD v4 |
| 11 | g.64804419G>A | CA381177466 | MEN1 | c.1763C>T (p.Ser588Leu) c.*1056C>T (n.*1056C>T) c.1739C>T (p.Ser580Leu) c.1748C>T (p.Ser583Leu) c.*844C>T (n.*844C>T) c.1090C>T n.2241C>T n.1710C>T n.2249C>T n.2025C>T c.1874C>T (p.Ser625Leu) c.1583C>T (p.Ser528Leu) c.1643C>T (p.Ser548Leu) n.1297C>T c.1889C>T (p.Ser630Leu) | dbSNP |
| 11 | g.64804419G>C | CA381177467 | MEN1 | c.1763C>G (p.Ser588Trp) c.*1056C>G (n.*1056C>G) c.1739C>G (p.Ser580Trp) c.1748C>G (p.Ser583Trp) c.*844C>G (n.*844C>G) c.1090C>G n.2241C>G n.1710C>G n.2249C>G n.2025C>G c.1874C>G (p.Ser625Trp) c.1583C>G (p.Ser528Trp) c.1643C>G (p.Ser548Trp) n.1297C>G c.1889C>G (p.Ser630Trp) | |
| 11 | g.64804419G>T | CA381177469 | MEN1 | c.1763C>A (p.Ser588Ter) c.*1056C>A (n.*1056C>A) c.1739C>A (p.Ser580Ter) c.1748C>A (p.Ser583Ter) c.*844C>A (n.*844C>A) c.1090C>A n.2241C>A n.1710C>A n.2249C>A n.2025C>A c.1874C>A (p.Ser625Ter) c.1583C>A (p.Ser528Ter) c.1643C>A (p.Ser548Ter) n.1297C>A c.1889C>A (p.Ser630Ter) | |
| 11 | g.64804420A= | CA1978916719 | MEN1 | c.1762T= (p.Ser588=) c.*1055T= (n.*1055T=) c.1738T= (p.Ser580=) c.1747T= (p.Ser583=) c.*843T= (n.*843T=) c.1089T= n.2240T= n.1709T= n.2248T= n.2024T= c.1873T= (p.Ser625=) c.1582T= (p.Ser528=) c.1642T= (p.Ser548=) n.1296T= c.1888T= (p.Ser630=) | |
| 11 | g.64804420A>C | CA009305 | MEN1 | c.1762T>G (p.Ser588Ala) c.*1055T>G (n.*1055T>G) c.1738T>G (p.Ser580Ala) c.1747T>G (p.Ser583Ala) c.*843T>G (n.*843T>G) c.1089T>G n.2240T>G n.1709T>G n.2248T>G n.2024T>G c.1873T>G (p.Ser625Ala) c.1582T>G (p.Ser528Ala) c.1642T>G (p.Ser548Ala) n.1296T>G c.1888T>G (p.Ser630Ala) | ClinVar dbSNP |
| 11 | g.64804420A>G | CA381177472 | MEN1 | c.1762T>C (p.Ser588Pro) c.*1055T>C (n.*1055T>C) c.1738T>C (p.Ser580Pro) c.1747T>C (p.Ser583Pro) c.*843T>C (n.*843T>C) c.1089T>C n.2240T>C n.1709T>C n.2248T>C n.2024T>C c.1873T>C (p.Ser625Pro) c.1582T>C (p.Ser528Pro) c.1642T>C (p.Ser548Pro) n.1296T>C c.1888T>C (p.Ser630Pro) | |
| 11 | g.64804420A>T | CA381177474 | MEN1 | c.1762T>A (p.Ser588Thr) c.*1055T>A (n.*1055T>A) c.1738T>A (p.Ser580Thr) c.1747T>A (p.Ser583Thr) c.*843T>A (n.*843T>A) c.1089T>A n.2240T>A n.1709T>A n.2248T>A n.2024T>A c.1873T>A (p.Ser625Thr) c.1582T>A (p.Ser528Thr) c.1642T>A (p.Ser548Thr) n.1296T>A c.1888T>A (p.Ser630Thr) | dbSNP |
| 11 | g.64804421C>A | CA381177475 | MEN1 | c.1761G>T (p.Gln587His) c.*1054G>T (n.*1054G>T) c.1737G>T (p.Gln579His) c.1746G>T (p.Gln582His) c.*842G>T (n.*842G>T) c.1088G>T n.2239G>T n.1708G>T n.2247G>T n.2023G>T c.1872G>T (p.Gln624His) c.1581G>T (p.Gln527His) c.1641G>T (p.Gln547His) n.1295G>T c.1887G>T (p.Gln629His) | |
| 11 | g.64804421C>G | CA381177476 | MEN1 | c.1761G>C (p.Gln587His) c.*1054G>C (n.*1054G>C) c.1737G>C (p.Gln579His) c.1746G>C (p.Gln582His) c.*842G>C (n.*842G>C) c.1088G>C n.2239G>C n.1708G>C n.2247G>C n.2023G>C c.1872G>C (p.Gln624His) c.1581G>C (p.Gln527His) c.1641G>C (p.Gln547His) n.1295G>C c.1887G>C (p.Gln629His) | |
| 11 | g.64804421C>T | CA475163120 | MEN1 | c.1761G>A (p.Gln587=) c.*1054G>A (n.*1054G>A) c.1737G>A (p.Gln579=) c.1746G>A (p.Gln582=) c.*842G>A (n.*842G>A) c.1088G>A n.2239G>A n.1708G>A n.2247G>A n.2023G>A c.1872G>A (p.Gln624=) c.1581G>A (p.Gln527=) c.1641G>A (p.Gln547=) n.1295G>A c.1887G>A (p.Gln629=) | |
| 11 | g.64804422T>A | CA381177478 | MEN1 | c.1760A>T (p.Gln587Leu) c.*1053A>T (n.*1053A>T) c.1736A>T (p.Gln579Leu) c.1745A>T (p.Gln582Leu) c.*841A>T (n.*841A>T) c.1087A>T n.2238A>T n.1707A>T n.2246A>T n.2022A>T c.1871A>T (p.Gln624Leu) c.1580A>T (p.Gln527Leu) c.1640A>T (p.Gln547Leu) n.1294A>T c.1886A>T (p.Gln629Leu) | |
| 11 | g.64804422T>C | CA381177480 | MEN1 | c.1760A>G (p.Gln587Arg) c.*1053A>G (n.*1053A>G) c.1736A>G (p.Gln579Arg) c.1745A>G (p.Gln582Arg) c.*841A>G (n.*841A>G) c.1087A>G n.2238A>G n.1707A>G n.2246A>G n.2022A>G c.1871A>G (p.Gln624Arg) c.1580A>G (p.Gln527Arg) c.1640A>G (p.Gln547Arg) n.1294A>G c.1886A>G (p.Gln629Arg) | |
| 11 | g.64804422T>G | CA381177481 | MEN1 | c.1760A>C (p.Gln587Pro) c.*1053A>C (n.*1053A>C) c.1736A>C (p.Gln579Pro) c.1745A>C (p.Gln582Pro) c.*841A>C (n.*841A>C) c.1087A>C n.2238A>C n.1707A>C n.2246A>C n.2022A>C c.1871A>C (p.Gln624Pro) c.1580A>C (p.Gln527Pro) c.1640A>C (p.Gln547Pro) n.1294A>C c.1886A>C (p.Gln629Pro) | |
| 11 | g.64804423G>A | CA381177483 | MEN1 | c.1759C>T (p.Gln587Ter) c.*1052C>T (n.*1052C>T) c.1735C>T (p.Gln579Ter) c.1744C>T (p.Gln582Ter) c.*840C>T (n.*840C>T) c.1086C>T n.2237C>T n.1706C>T n.2245C>T n.2021C>T c.1870C>T (p.Gln624Ter) c.1579C>T (p.Gln527Ter) c.1639C>T (p.Gln547Ter) n.1293C>T c.1885C>T (p.Gln629Ter) | dbSNP |
| 11 | g.64804423G>C | CA381177485 | MEN1 | c.1759C>G (p.Gln587Glu) c.*1052C>G (n.*1052C>G) c.1735C>G (p.Gln579Glu) c.1744C>G (p.Gln582Glu) c.*840C>G (n.*840C>G) c.1086C>G n.2237C>G n.1706C>G n.2245C>G n.2021C>G c.1870C>G (p.Gln624Glu) c.1579C>G (p.Gln527Glu) c.1639C>G (p.Gln547Glu) n.1293C>G c.1885C>G (p.Gln629Glu) | |
| 11 | g.64804423G>T | CA381177487 | MEN1 | c.1759C>A (p.Gln587Lys) c.*1052C>A (n.*1052C>A) c.1735C>A (p.Gln579Lys) c.1744C>A (p.Gln582Lys) c.*840C>A (n.*840C>A) c.1086C>A n.2237C>A n.1706C>A n.2245C>A n.2021C>A c.1870C>A (p.Gln624Lys) c.1579C>A (p.Gln527Lys) c.1639C>A (p.Gln547Lys) n.1293C>A c.1885C>A (p.Gln629Lys) | |
| 11 | g.64804424T>A | CA475163125 | MEN1 | c.1758A>T (p.Ala586=) c.*1051A>T (n.*1051A>T) c.1734A>T (p.Ala578=) c.1743A>T (p.Ala581=) c.*839A>T (n.*839A>T) c.1085A>T n.2236A>T n.1705A>T n.2244A>T n.2020A>T c.1869A>T (p.Ala623=) c.1578A>T (p.Ala526=) c.1638A>T (p.Ala546=) n.1292A>T c.1884A>T (p.Ala628=) | |
| 11 | g.64804424T>C | CA475163126 | MEN1 | c.1758A>G (p.Ala586=) c.*1051A>G (n.*1051A>G) c.1734A>G (p.Ala578=) c.1743A>G (p.Ala581=) c.*839A>G (n.*839A>G) c.1085A>G n.2236A>G n.1705A>G n.2244A>G n.2020A>G c.1869A>G (p.Ala623=) c.1578A>G (p.Ala526=) c.1638A>G (p.Ala546=) n.1292A>G c.1884A>G (p.Ala628=) | |
| 11 | g.64804424T>G | CA475163127 | MEN1 | c.1758A>C (p.Ala586=) c.*1051A>C (n.*1051A>C) c.1734A>C (p.Ala578=) c.1743A>C (p.Ala581=) c.*839A>C (n.*839A>C) c.1085A>C n.2236A>C n.1705A>C n.2244A>C n.2020A>C c.1869A>C (p.Ala623=) c.1578A>C (p.Ala526=) c.1638A>C (p.Ala546=) n.1292A>C c.1884A>C (p.Ala628=) | dbSNP |
| 11 | g.64804424T= | CA1978916730 | MEN1 | c.1758A= (p.Ala586=) c.*1051A= (n.*1051A=) c.1734A= (p.Ala578=) c.1743A= (p.Ala581=) c.*839A= (n.*839A=) c.1085A= n.2236A= n.1705A= n.2244A= n.2020A= c.1869A= (p.Ala623=) c.1578A= (p.Ala526=) c.1638A= (p.Ala546=) n.1292A= c.1884A= (p.Ala628=) | |
| 11 | g.64804425G>A | CA381177489 | MEN1 | c.1757C>T (p.Ala586Val) c.*1050C>T (n.*1050C>T) c.1733C>T (p.Ala578Val) c.1742C>T (p.Ala581Val) c.*838C>T (n.*838C>T) c.1084C>T n.2235C>T n.1704C>T n.2243C>T n.2019C>T c.1868C>T (p.Ala623Val) c.1577C>T (p.Ala526Val) c.1637C>T (p.Ala546Val) n.1291C>T c.1883C>T (p.Ala628Val) | |
| 11 | g.64804425G>C | CA381177491 | MEN1 | c.1757C>G (p.Ala586Gly) c.*1050C>G (n.*1050C>G) c.1733C>G (p.Ala578Gly) c.1742C>G (p.Ala581Gly) c.*838C>G (n.*838C>G) c.1084C>G n.2235C>G n.1704C>G n.2243C>G n.2019C>G c.1868C>G (p.Ala623Gly) c.1577C>G (p.Ala526Gly) c.1637C>G (p.Ala546Gly) n.1291C>G c.1883C>G (p.Ala628Gly) | |
| 11 | g.64804425G>T | CA381177493 | MEN1 | c.1757C>A (p.Ala586Glu) c.*1050C>A (n.*1050C>A) c.1733C>A (p.Ala578Glu) c.1742C>A (p.Ala581Glu) c.*838C>A (n.*838C>A) c.1084C>A n.2235C>A n.1704C>A n.2243C>A n.2019C>A c.1868C>A (p.Ala623Glu) c.1577C>A (p.Ala526Glu) c.1637C>A (p.Ala546Glu) n.1291C>A c.1883C>A (p.Ala628Glu) | |
| 11 | g.64804426C>A | CA381177499 | MEN1 | c.1756G>T (p.Ala586Ser) c.*1049G>T (n.*1049G>T) c.1732G>T (p.Ala578Ser) c.1741G>T (p.Ala581Ser) c.*837G>T (n.*837G>T) c.1083G>T n.2234G>T n.1703G>T n.2242G>T n.2018G>T c.1867G>T (p.Ala623Ser) c.1576G>T (p.Ala526Ser) c.1636G>T (p.Ala546Ser) n.1290G>T c.1882G>T (p.Ala628Ser) | |
| 11 | g.64804426C>G | CA381177497 | MEN1 | c.1756G>C (p.Ala586Pro) c.*1049G>C (n.*1049G>C) c.1732G>C (p.Ala578Pro) c.1741G>C (p.Ala581Pro) c.*837G>C (n.*837G>C) c.1083G>C n.2234G>C n.1703G>C n.2242G>C n.2018G>C c.1867G>C (p.Ala623Pro) c.1576G>C (p.Ala526Pro) c.1636G>C (p.Ala546Pro) n.1290G>C c.1882G>C (p.Ala628Pro) | dbSNP |
| 11 | g.64804426C>T | CA381177496 | MEN1 | c.1756G>A (p.Ala586Thr) c.*1049G>A (n.*1049G>A) c.1732G>A (p.Ala578Thr) c.1741G>A (p.Ala581Thr) c.*837G>A (n.*837G>A) c.1083G>A n.2234G>A n.1703G>A n.2242G>A n.2018G>A c.1867G>A (p.Ala623Thr) c.1576G>A (p.Ala526Thr) c.1636G>A (p.Ala546Thr) n.1290G>A c.1882G>A (p.Ala628Thr) | dbSNP |
| 11 | g.64804427C>A | CA475163133 | MEN1 | c.1755G>T (p.Thr585=) c.*1048G>T (n.*1048G>T) c.1731G>T (p.Thr577=) c.1740G>T (p.Thr580=) c.*836G>T (n.*836G>T) c.1082G>T n.2233G>T n.1702G>T n.2241G>T n.2017G>T c.1866G>T (p.Thr622=) c.1575G>T (p.Thr525=) c.1635G>T (p.Thr545=) n.1289G>T c.1881G>T (p.Thr627=) | |
| 11 | g.64804427C= | CA1978916737 | MEN1 | c.1755G= (p.Thr585=) c.*1048G= (n.*1048G=) c.1731G= (p.Thr577=) c.1740G= (p.Thr580=) c.*836G= (n.*836G=) c.1082G= n.2233G= n.1702G= n.2241G= n.2017G= c.1866G= (p.Thr622=) c.1575G= (p.Thr525=) c.1635G= (p.Thr545=) n.1289G= c.1881G= (p.Thr627=) | |
| 11 | g.64804427C>G | CA475163136 | MEN1 | c.1755G>C (p.Thr585=) c.*1048G>C (n.*1048G>C) c.1731G>C (p.Thr577=) c.1740G>C (p.Thr580=) c.*836G>C (n.*836G>C) c.1082G>C n.2233G>C n.1702G>C n.2241G>C n.2017G>C c.1866G>C (p.Thr622=) c.1575G>C (p.Thr525=) c.1635G>C (p.Thr545=) n.1289G>C c.1881G>C (p.Thr627=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64804427C>T | CA475163135 | MEN1 | c.1755G>A (p.Thr585=) c.*1048G>A (n.*1048G>A) c.1731G>A (p.Thr577=) c.1740G>A (p.Thr580=) c.*836G>A (n.*836G>A) c.1082G>A n.2233G>A n.1702G>A n.2241G>A n.2017G>A c.1866G>A (p.Thr622=) c.1575G>A (p.Thr525=) c.1635G>A (p.Thr545=) n.1289G>A c.1881G>A (p.Thr627=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64804427_64804428delinsCG | CA1978916750 | MEN1 | c.1754_1755delinsCG (p.Thr585=) c.*1047_*1048delinsCG (n.*1047_*1048delinsCG) c.1730_1731delinsCG (p.Thr577=) c.1739_1740delinsCG (p.Thr580=) c.*835_*836delinsCG (n.*835_*836delinsCG) c.1081_1082delinsCG n.2232_2233delinsCG n.1701_1702delinsCG n.2240_2241delinsCG n.2016_2017delinsCG c.1865_1866delinsCG (p.Thr622=) c.1574_1575delinsCG (p.Thr525=) c.1634_1635delinsCG (p.Thr545=) n.1288_1289delinsCG c.1880_1881delinsCG (p.Thr627=) | |
| 11 | g.64804428del | CA348208 | MEN1 | c.1754del (p.Thr585ArgfsTer8) c.*1047del (n.*1047del) c.1730del (p.Thr577ArgfsTer8) c.1739del (p.Thr580ArgfsTer8) c.*835del (n.*835del) c.1081del n.2232del n.1701del n.2240del n.2016del c.1865del (p.Thr622ArgfsTer8) c.1574del (p.Thr525ArgfsTer8) c.1634del (p.Thr545ArgfsTer8) n.1288del c.1880del (p.Thr627ArgfsTer8) | ClinVar dbSNP |
| 11 | g.64804428G>A | CA381177502 | MEN1 | c.1754C>T (p.Thr585Met) c.*1047C>T (n.*1047C>T) c.1730C>T (p.Thr577Met) c.1739C>T (p.Thr580Met) c.*835C>T (n.*835C>T) c.1081C>T n.2232C>T n.1701C>T n.2240C>T n.2016C>T c.1865C>T (p.Thr622Met) c.1574C>T (p.Thr525Met) c.1634C>T (p.Thr545Met) n.1288C>T c.1880C>T (p.Thr627Met) | ClinVar dbSNP |
| 11 | g.64804428G>C | CA381177504 | MEN1 | c.1754C>G (p.Thr585Arg) c.*1047C>G (n.*1047C>G) c.1730C>G (p.Thr577Arg) c.1739C>G (p.Thr580Arg) c.*835C>G (n.*835C>G) c.1081C>G n.2232C>G n.1701C>G n.2240C>G n.2016C>G c.1865C>G (p.Thr622Arg) c.1574C>G (p.Thr525Arg) c.1634C>G (p.Thr545Arg) n.1288C>G c.1880C>G (p.Thr627Arg) | COSMIC |
| 11 | g.64804428G= | CA1978916764 | MEN1 | c.1754C= (p.Thr585=) c.*1047C= (n.*1047C=) c.1730C= (p.Thr577=) c.1739C= (p.Thr580=) c.*835C= (n.*835C=) c.1081C= n.2232C= n.1701C= n.2240C= n.2016C= c.1865C= (p.Thr622=) c.1574C= (p.Thr525=) c.1634C= (p.Thr545=) n.1288C= c.1880C= (p.Thr627=) | |
| 11 | g.64804428G>T | CA381177506 | MEN1 | c.1754C>A (p.Thr585Lys) c.*1047C>A (n.*1047C>A) c.1730C>A (p.Thr577Lys) c.1739C>A (p.Thr580Lys) c.*835C>A (n.*835C>A) c.1081C>A n.2232C>A n.1701C>A n.2240C>A n.2016C>A c.1865C>A (p.Thr622Lys) c.1574C>A (p.Thr525Lys) c.1634C>A (p.Thr545Lys) n.1288C>A c.1880C>A (p.Thr627Lys) | |
| 11 | g.64804429T>A | CA381177509 | MEN1 | c.1753A>T (p.Thr585Ser) c.*1046A>T (n.*1046A>T) c.1729A>T (p.Thr577Ser) c.1738A>T (p.Thr580Ser) c.*834A>T (n.*834A>T) c.1080A>T n.2231A>T n.1700A>T n.2239A>T n.2015A>T c.1864A>T (p.Thr622Ser) c.1573A>T (p.Thr525Ser) c.1633A>T (p.Thr545Ser) n.1287A>T c.1879A>T (p.Thr627Ser) |