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.64804384G>A | CA381177309 | MEN1 | c.1798C>T (p.Pro600Ser) c.*1091C>T (n.*1091C>T) c.1774C>T (p.Pro592Ser) c.1783C>T (p.Pro595Ser) c.*879C>T (n.*879C>T) c.1125C>T n.2276C>T n.1745C>T n.2284C>T n.2060C>T c.1909C>T (p.Pro637Ser) c.1618C>T (p.Pro540Ser) c.1678C>T (p.Pro560Ser) n.1332C>T c.1924C>T (p.Pro642Ser) | ClinVar dbSNP |
| 11 | g.64804384G>C | CA381177311 | MEN1 | c.1798C>G (p.Pro600Ala) c.*1091C>G (n.*1091C>G) c.1774C>G (p.Pro592Ala) c.1783C>G (p.Pro595Ala) c.*879C>G (n.*879C>G) c.1125C>G n.2276C>G n.1745C>G n.2284C>G n.2060C>G c.1909C>G (p.Pro637Ala) c.1618C>G (p.Pro540Ala) c.1678C>G (p.Pro560Ala) n.1332C>G c.1924C>G (p.Pro642Ala) | |
| 11 | g.64804384G>T | CA381177314 | MEN1 | c.1798C>A (p.Pro600Thr) c.*1091C>A (n.*1091C>A) c.1774C>A (p.Pro592Thr) c.1783C>A (p.Pro595Thr) c.*879C>A (n.*879C>A) c.1125C>A n.2276C>A n.1745C>A n.2284C>A n.2060C>A c.1909C>A (p.Pro637Thr) c.1618C>A (p.Pro540Thr) c.1678C>A (p.Pro560Thr) n.1332C>A c.1924C>A (p.Pro642Thr) | |
| 11 | g.64804385G>A | CA475162993 | MEN1 | c.1797C>T (p.Thr599=) c.*1090C>T (n.*1090C>T) c.1773C>T (p.Thr591=) c.1782C>T (p.Thr594=) c.*878C>T (n.*878C>T) c.1124C>T n.2275C>T n.1744C>T n.2283C>T n.2059C>T c.1908C>T (p.Thr636=) c.1617C>T (p.Thr539=) c.1677C>T (p.Thr559=) n.1331C>T c.1923C>T (p.Thr641=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64804385G>C | CA475162997 | MEN1 | c.1797C>G (p.Thr599=) c.*1090C>G (n.*1090C>G) c.1773C>G (p.Thr591=) c.1782C>G (p.Thr594=) c.*878C>G (n.*878C>G) c.1124C>G n.2275C>G n.1744C>G n.2283C>G n.2059C>G c.1908C>G (p.Thr636=) c.1617C>G (p.Thr539=) c.1677C>G (p.Thr559=) n.1331C>G c.1923C>G (p.Thr641=) | |
| 11 | g.64804385G>T | CA475162995 | MEN1 | c.1797C>A (p.Thr599=) c.*1090C>A (n.*1090C>A) c.1773C>A (p.Thr591=) c.1782C>A (p.Thr594=) c.*878C>A (n.*878C>A) c.1124C>A n.2275C>A n.1744C>A n.2283C>A n.2059C>A c.1908C>A (p.Thr636=) c.1617C>A (p.Thr539=) c.1677C>A (p.Thr559=) n.1331C>A c.1923C>A (p.Thr641=) | ClinVar |
| 11 | g.64804386G>A | CA381177318 | MEN1 | c.1796C>T (p.Thr599Ile) c.*1089C>T (n.*1089C>T) c.1772C>T (p.Thr591Ile) c.1781C>T (p.Thr594Ile) c.*877C>T (n.*877C>T) c.1123C>T n.2274C>T n.1743C>T n.2282C>T n.2058C>T c.1907C>T (p.Thr636Ile) c.1616C>T (p.Thr539Ile) c.1676C>T (p.Thr559Ile) n.1330C>T c.1922C>T (p.Thr641Ile) | ClinVar dbSNP |
| 11 | g.64804386G>C | CA381177319 | MEN1 | c.1796C>G (p.Thr599Ser) c.*1089C>G (n.*1089C>G) c.1772C>G (p.Thr591Ser) c.1781C>G (p.Thr594Ser) c.*877C>G (n.*877C>G) c.1123C>G n.2274C>G n.1743C>G n.2282C>G n.2058C>G c.1907C>G (p.Thr636Ser) c.1616C>G (p.Thr539Ser) c.1676C>G (p.Thr559Ser) n.1330C>G c.1922C>G (p.Thr641Ser) | |
| 11 | g.64804386G= | CA1978916608 | MEN1 | c.1796C= (p.Thr599=) c.*1089C= (n.*1089C=) c.1772C= (p.Thr591=) c.1781C= (p.Thr594=) c.*877C= (n.*877C=) c.1123C= n.2274C= n.1743C= n.2282C= n.2058C= c.1907C= (p.Thr636=) c.1616C= (p.Thr539=) c.1676C= (p.Thr559=) n.1330C= c.1922C= (p.Thr641=) | |
| 11 | g.64804386G>T | CA381177322 | MEN1 | c.1796C>A (p.Thr599Asn) c.*1089C>A (n.*1089C>A) c.1772C>A (p.Thr591Asn) c.1781C>A (p.Thr594Asn) c.*877C>A (n.*877C>A) c.1123C>A n.2274C>A n.1743C>A n.2282C>A n.2058C>A c.1907C>A (p.Thr636Asn) c.1616C>A (p.Thr539Asn) c.1676C>A (p.Thr559Asn) n.1330C>A c.1922C>A (p.Thr641Asn) | ClinVar |
| 11 | g.64804387T>A | CA381177327 | MEN1 | c.1795A>T (p.Thr599Ser) c.*1088A>T (n.*1088A>T) c.1771A>T (p.Thr591Ser) c.1780A>T (p.Thr594Ser) c.*876A>T (n.*876A>T) c.1122A>T n.2273A>T n.1742A>T n.2281A>T n.2057A>T c.1906A>T (p.Thr636Ser) c.1615A>T (p.Thr539Ser) c.1675A>T (p.Thr559Ser) n.1329A>T c.1921A>T (p.Thr641Ser) | dbSNP |
| 11 | g.64804387T>C | CA381177325 | MEN1 | c.1795A>G (p.Thr599Ala) c.*1088A>G (n.*1088A>G) c.1771A>G (p.Thr591Ala) c.1780A>G (p.Thr594Ala) c.*876A>G (n.*876A>G) c.1122A>G n.2273A>G n.1742A>G n.2281A>G n.2057A>G c.1906A>G (p.Thr636Ala) c.1615A>G (p.Thr539Ala) c.1675A>G (p.Thr559Ala) n.1329A>G c.1921A>G (p.Thr641Ala) | ClinVar dbSNP |
| 11 | g.64804387T>G | CA381177324 | MEN1 | c.1795A>C (p.Thr599Pro) c.*1088A>C (n.*1088A>C) c.1771A>C (p.Thr591Pro) c.1780A>C (p.Thr594Pro) c.*876A>C (n.*876A>C) c.1122A>C n.2273A>C n.1742A>C n.2281A>C n.2057A>C c.1906A>C (p.Thr636Pro) c.1615A>C (p.Thr539Pro) c.1675A>C (p.Thr559Pro) n.1329A>C c.1921A>C (p.Thr641Pro) | ClinVar dbSNP |
| 11 | g.64804387T= | CA1978916618 | MEN1 | c.1795A= (p.Thr599=) c.*1088A= (n.*1088A=) c.1771A= (p.Thr591=) c.1780A= (p.Thr594=) c.*876A= (n.*876A=) c.1122A= n.2273A= n.1742A= n.2281A= n.2057A= c.1906A= (p.Thr636=) c.1615A= (p.Thr539=) c.1675A= (p.Thr559=) n.1329A= c.1921A= (p.Thr641=) | |
| 11 | g.64804388G>A | CA475163001 | MEN1 | c.1794C>T (p.Ser598=) c.*1087C>T (n.*1087C>T) c.1770C>T (p.Ser590=) c.1779C>T (p.Ser593=) c.*875C>T (n.*875C>T) c.1121C>T n.2272C>T n.1741C>T n.2280C>T n.2056C>T c.1905C>T (p.Ser635=) c.1614C>T (p.Ser538=) c.1674C>T (p.Ser558=) n.1328C>T c.1920C>T (p.Ser640=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64804388G>C | CA475163004 | MEN1 | c.1794C>G (p.Ser598=) c.*1087C>G (n.*1087C>G) c.1770C>G (p.Ser590=) c.1779C>G (p.Ser593=) c.*875C>G (n.*875C>G) c.1121C>G n.2272C>G n.1741C>G n.2280C>G n.2056C>G c.1905C>G (p.Ser635=) c.1614C>G (p.Ser538=) c.1674C>G (p.Ser558=) n.1328C>G c.1920C>G (p.Ser640=) | |
| 11 | g.64804388G= | CA1978916635 | MEN1 | c.1794C= (p.Ser598=) c.*1087C= (n.*1087C=) c.1770C= (p.Ser590=) c.1779C= (p.Ser593=) c.*875C= (n.*875C=) c.1121C= n.2272C= n.1741C= n.2280C= n.2056C= c.1905C= (p.Ser635=) c.1614C= (p.Ser538=) c.1674C= (p.Ser558=) n.1328C= c.1920C= (p.Ser640=) | |
| 11 | g.64804388G>T | CA475163006 | MEN1 | c.1794C>A (p.Ser598=) c.*1087C>A (n.*1087C>A) c.1770C>A (p.Ser590=) c.1779C>A (p.Ser593=) c.*875C>A (n.*875C>A) c.1121C>A n.2272C>A n.1741C>A n.2280C>A n.2056C>A c.1905C>A (p.Ser635=) c.1614C>A (p.Ser538=) c.1674C>A (p.Ser558=) n.1328C>A c.1920C>A (p.Ser640=) | COSMIC |
| 11 | g.64804389G>A | CA381177328 | MEN1 | c.1793C>T (p.Ser598Phe) c.*1086C>T (n.*1086C>T) c.1769C>T (p.Ser590Phe) c.1778C>T (p.Ser593Phe) c.*874C>T (n.*874C>T) c.1120C>T n.2271C>T n.1740C>T n.2279C>T n.2055C>T c.1904C>T (p.Ser635Phe) c.1613C>T (p.Ser538Phe) c.1673C>T (p.Ser558Phe) n.1327C>T c.1919C>T (p.Ser640Phe) | |
| 11 | g.64804389G>C | CA381177332 | MEN1 | c.1793C>G (p.Ser598Cys) c.*1086C>G (n.*1086C>G) c.1769C>G (p.Ser590Cys) c.1778C>G (p.Ser593Cys) c.*874C>G (n.*874C>G) c.1120C>G n.2271C>G n.1740C>G n.2279C>G n.2055C>G c.1904C>G (p.Ser635Cys) c.1613C>G (p.Ser538Cys) c.1673C>G (p.Ser558Cys) n.1327C>G c.1919C>G (p.Ser640Cys) | |
| 11 | g.64804389G>T | CA381177330 | MEN1 | c.1793C>A (p.Ser598Tyr) c.*1086C>A (n.*1086C>A) c.1769C>A (p.Ser590Tyr) c.1778C>A (p.Ser593Tyr) c.*874C>A (n.*874C>A) c.1120C>A n.2271C>A n.1740C>A n.2279C>A n.2055C>A c.1904C>A (p.Ser635Tyr) c.1613C>A (p.Ser538Tyr) c.1673C>A (p.Ser558Tyr) n.1327C>A c.1919C>A (p.Ser640Tyr) | |
| 11 | g.64804390A= | CA1978916642 | MEN1 | c.1792T= (p.Ser598=) c.*1085T= (n.*1085T=) c.1768T= (p.Ser590=) c.1777T= (p.Ser593=) c.*873T= (n.*873T=) c.1119T= n.2270T= n.1739T= n.2278T= n.2054T= c.1903T= (p.Ser635=) c.1612T= (p.Ser538=) c.1672T= (p.Ser558=) n.1326T= c.1918T= (p.Ser640=) | |
| 11 | g.64804390A>C | CA381177334 | MEN1 | c.1792T>G (p.Ser598Ala) c.*1085T>G (n.*1085T>G) c.1768T>G (p.Ser590Ala) c.1777T>G (p.Ser593Ala) c.*873T>G (n.*873T>G) c.1119T>G n.2270T>G n.1739T>G n.2278T>G n.2054T>G c.1903T>G (p.Ser635Ala) c.1612T>G (p.Ser538Ala) c.1672T>G (p.Ser558Ala) n.1326T>G c.1918T>G (p.Ser640Ala) | |
| 11 | g.64804390A>G | CA381177338 | MEN1 | c.1792T>C (p.Ser598Pro) c.*1085T>C (n.*1085T>C) c.1768T>C (p.Ser590Pro) c.1777T>C (p.Ser593Pro) c.*873T>C (n.*873T>C) c.1119T>C n.2270T>C n.1739T>C n.2278T>C n.2054T>C c.1903T>C (p.Ser635Pro) c.1612T>C (p.Ser538Pro) c.1672T>C (p.Ser558Pro) n.1326T>C c.1918T>C (p.Ser640Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64804390A>T | CA381177336 | MEN1 | c.1792T>A (p.Ser598Thr) c.*1085T>A (n.*1085T>A) c.1768T>A (p.Ser590Thr) c.1777T>A (p.Ser593Thr) c.*873T>A (n.*873T>A) c.1119T>A n.2270T>A n.1739T>A n.2278T>A n.2054T>A c.1903T>A (p.Ser635Thr) c.1612T>A (p.Ser538Thr) c.1672T>A (p.Ser558Thr) n.1326T>A c.1918T>A (p.Ser640Thr) | |
| 11 | g.64804391C>A | CA475163014 | MEN1 | c.1791G>T (p.Val597=) c.*1084G>T (n.*1084G>T) c.1767G>T (p.Val589=) c.1776G>T (p.Val592=) c.*872G>T (n.*872G>T) c.1118G>T n.2269G>T n.1738G>T n.2277G>T n.2053G>T c.1902G>T (p.Val634=) c.1611G>T (p.Val537=) c.1671G>T (p.Val557=) n.1325G>T c.1917G>T (p.Val639=) | dbSNP |
| 11 | g.64804391C>G | CA475163017 | MEN1 | c.1791G>C (p.Val597=) c.*1084G>C (n.*1084G>C) c.1767G>C (p.Val589=) c.1776G>C (p.Val592=) c.*872G>C (n.*872G>C) c.1118G>C n.2269G>C n.1738G>C n.2277G>C n.2053G>C c.1902G>C (p.Val634=) c.1611G>C (p.Val537=) c.1671G>C (p.Val557=) n.1325G>C c.1917G>C (p.Val639=) | dbSNP |
| 11 | g.64804391C>T | CA475163018 | MEN1 | c.1791G>A (p.Val597=) c.*1084G>A (n.*1084G>A) c.1767G>A (p.Val589=) c.1776G>A (p.Val592=) c.*872G>A (n.*872G>A) c.1118G>A n.2269G>A n.1738G>A n.2277G>A n.2053G>A c.1902G>A (p.Val634=) c.1611G>A (p.Val537=) c.1671G>A (p.Val557=) n.1325G>A c.1917G>A (p.Val639=) | |
| 11 | g.64804392A= | CA1978916651 | MEN1 | c.1790T= (p.Val597=) c.*1083T= (n.*1083T=) c.1766T= (p.Val589=) c.1775T= (p.Val592=) c.*871T= (n.*871T=) c.1117T= n.2268T= n.1737T= n.2276T= n.2052T= c.1901T= (p.Val634=) c.1610T= (p.Val537=) c.1670T= (p.Val557=) n.1324T= c.1916T= (p.Val639=) | |
| 11 | g.64804392A>C | CA381177339 | MEN1 | c.1790T>G (p.Val597Gly) c.*1083T>G (n.*1083T>G) c.1766T>G (p.Val589Gly) c.1775T>G (p.Val592Gly) c.*871T>G (n.*871T>G) c.1117T>G n.2268T>G n.1737T>G n.2276T>G n.2052T>G c.1901T>G (p.Val634Gly) c.1610T>G (p.Val537Gly) c.1670T>G (p.Val557Gly) n.1324T>G c.1916T>G (p.Val639Gly) | |
| 11 | g.64804392A>G | CA381177343 | MEN1 | c.1790T>C (p.Val597Ala) c.*1083T>C (n.*1083T>C) c.1766T>C (p.Val589Ala) c.1775T>C (p.Val592Ala) c.*871T>C (n.*871T>C) c.1117T>C n.2268T>C n.1737T>C n.2276T>C n.2052T>C c.1901T>C (p.Val634Ala) c.1610T>C (p.Val537Ala) c.1670T>C (p.Val557Ala) n.1324T>C c.1916T>C (p.Val639Ala) | ClinVar dbSNP |
| 11 | g.64804392A>T | CA381177341 | MEN1 | c.1790T>A (p.Val597Glu) c.*1083T>A (n.*1083T>A) c.1766T>A (p.Val589Glu) c.1775T>A (p.Val592Glu) c.*871T>A (n.*871T>A) c.1117T>A n.2268T>A n.1737T>A n.2276T>A n.2052T>A c.1901T>A (p.Val634Glu) c.1610T>A (p.Val537Glu) c.1670T>A (p.Val557Glu) n.1324T>A c.1916T>A (p.Val639Glu) | dbSNP |
| 11 | g.64804393C>A | CA381177345 | MEN1 | c.1789G>T (p.Val597Leu) c.*1082G>T (n.*1082G>T) c.1765G>T (p.Val589Leu) c.1774G>T (p.Val592Leu) c.*870G>T (n.*870G>T) c.1116G>T n.2267G>T n.1736G>T n.2275G>T n.2051G>T c.1900G>T (p.Val634Leu) c.1609G>T (p.Val537Leu) c.1669G>T (p.Val557Leu) n.1323G>T c.1915G>T (p.Val639Leu) | |
| 11 | g.64804393C>G | CA381177346 | MEN1 | c.1789G>C (p.Val597Leu) c.*1082G>C (n.*1082G>C) c.1765G>C (p.Val589Leu) c.1774G>C (p.Val592Leu) c.*870G>C (n.*870G>C) c.1116G>C n.2267G>C n.1736G>C n.2275G>C n.2051G>C c.1900G>C (p.Val634Leu) c.1609G>C (p.Val537Leu) c.1669G>C (p.Val557Leu) n.1323G>C c.1915G>C (p.Val639Leu) | |
| 11 | g.64804393C>T | CA381177348 | MEN1 | c.1789G>A (p.Val597Met) c.*1082G>A (n.*1082G>A) c.1765G>A (p.Val589Met) c.1774G>A (p.Val592Met) c.*870G>A (n.*870G>A) c.1116G>A n.2267G>A n.1736G>A n.2275G>A n.2051G>A c.1900G>A (p.Val634Met) c.1609G>A (p.Val537Met) c.1669G>A (p.Val557Met) n.1323G>A c.1915G>A (p.Val639Met) | |
| 11 | g.64804394T>A | CA381177350 | MEN1 | c.1788A>T (p.Lys596Asn) c.*1081A>T (n.*1081A>T) c.1764A>T (p.Lys588Asn) c.1773A>T (p.Lys591Asn) c.*869A>T (n.*869A>T) c.1115A>T n.2266A>T n.1735A>T n.2274A>T n.2050A>T c.1899A>T (p.Lys633Asn) c.1608A>T (p.Lys536Asn) c.1668A>T (p.Lys556Asn) n.1322A>T c.1914A>T (p.Lys638Asn) | |
| 11 | g.64804394T>C | CA475163026 | MEN1 | c.1788A>G (p.Lys596=) c.*1081A>G (n.*1081A>G) c.1764A>G (p.Lys588=) c.1773A>G (p.Lys591=) c.*869A>G (n.*869A>G) c.1115A>G n.2266A>G n.1735A>G n.2274A>G n.2050A>G c.1899A>G (p.Lys633=) c.1608A>G (p.Lys536=) c.1668A>G (p.Lys556=) n.1322A>G c.1914A>G (p.Lys638=) | dbSNP |
| 11 | g.64804394T>G | CA381177351 | MEN1 | c.1788A>C (p.Lys596Asn) c.*1081A>C (n.*1081A>C) c.1764A>C (p.Lys588Asn) c.1773A>C (p.Lys591Asn) c.*869A>C (n.*869A>C) c.1115A>C n.2266A>C n.1735A>C n.2274A>C n.2050A>C c.1899A>C (p.Lys633Asn) c.1608A>C (p.Lys536Asn) c.1668A>C (p.Lys556Asn) n.1322A>C c.1914A>C (p.Lys638Asn) | gnomAD v4 |
| 11 | g.64804394T= | CA1978916659 | MEN1 | c.1788A= (p.Lys596=) c.*1081A= (n.*1081A=) c.1764A= (p.Lys588=) c.1773A= (p.Lys591=) c.*869A= (n.*869A=) c.1115A= n.2266A= n.1735A= n.2274A= n.2050A= c.1899A= (p.Lys633=) c.1608A= (p.Lys536=) c.1668A= (p.Lys556=) n.1322A= c.1914A= (p.Lys638=) | |
| 11 | g.64804395T>A | CA381177353 | MEN1 | c.1787A>T (p.Lys596Ile) c.*1080A>T (n.*1080A>T) c.1763A>T (p.Lys588Ile) c.1772A>T (p.Lys591Ile) c.*868A>T (n.*868A>T) c.1114A>T n.2265A>T n.1734A>T n.2273A>T n.2049A>T c.1898A>T (p.Lys633Ile) c.1607A>T (p.Lys536Ile) c.1667A>T (p.Lys556Ile) n.1321A>T c.1913A>T (p.Lys638Ile) | |
| 11 | g.64804395T>C | CA381177354 | MEN1 | c.1787A>G (p.Lys596Arg) c.*1080A>G (n.*1080A>G) c.1763A>G (p.Lys588Arg) c.1772A>G (p.Lys591Arg) c.*868A>G (n.*868A>G) c.1114A>G n.2265A>G n.1734A>G n.2273A>G n.2049A>G c.1898A>G (p.Lys633Arg) c.1607A>G (p.Lys536Arg) c.1667A>G (p.Lys556Arg) n.1321A>G c.1913A>G (p.Lys638Arg) | |
| 11 | g.64804395T>G | CA381177356 | MEN1 | c.1787A>C (p.Lys596Thr) c.*1080A>C (n.*1080A>C) c.1763A>C (p.Lys588Thr) c.1772A>C (p.Lys591Thr) c.*868A>C (n.*868A>C) c.1114A>C n.2265A>C n.1734A>C n.2273A>C n.2049A>C c.1898A>C (p.Lys633Thr) c.1607A>C (p.Lys536Thr) c.1667A>C (p.Lys556Thr) n.1321A>C c.1913A>C (p.Lys638Thr) | |
| 11 | g.64804396T>A | CA381177358 | MEN1 | c.1786A>T (p.Lys596Ter) c.*1079A>T (n.*1079A>T) c.1762A>T (p.Lys588Ter) c.1771A>T (p.Lys591Ter) c.*867A>T (n.*867A>T) c.1113A>T n.2264A>T n.1733A>T n.2272A>T n.2048A>T c.1897A>T (p.Lys633Ter) c.1606A>T (p.Lys536Ter) c.1666A>T (p.Lys556Ter) n.1320A>T c.1912A>T (p.Lys638Ter) | |
| 11 | g.64804396T>C | CA381177359 | MEN1 | c.1786A>G (p.Lys596Glu) c.*1079A>G (n.*1079A>G) c.1762A>G (p.Lys588Glu) c.1771A>G (p.Lys591Glu) c.*867A>G (n.*867A>G) c.1113A>G n.2264A>G n.1733A>G n.2272A>G n.2048A>G c.1897A>G (p.Lys633Glu) c.1606A>G (p.Lys536Glu) c.1666A>G (p.Lys556Glu) n.1320A>G c.1912A>G (p.Lys638Glu) | |
| 11 | g.64804396T>G | CA381177361 | MEN1 | c.1786A>C (p.Lys596Gln) c.*1079A>C (n.*1079A>C) c.1762A>C (p.Lys588Gln) c.1771A>C (p.Lys591Gln) c.*867A>C (n.*867A>C) c.1113A>C n.2264A>C n.1733A>C n.2272A>C n.2048A>C c.1897A>C (p.Lys633Gln) c.1606A>C (p.Lys536Gln) c.1666A>C (p.Lys556Gln) n.1320A>C c.1912A>C (p.Lys638Gln) | |
| 11 | g.64804397C>A | CA381177365 | MEN1 | c.1785G>T (p.Gln595His) c.*1078G>T (n.*1078G>T) c.1761G>T (p.Gln587His) c.1770G>T (p.Gln590His) c.*866G>T (n.*866G>T) c.1112G>T n.2263G>T n.1732G>T n.2271G>T n.2047G>T c.1896G>T (p.Gln632His) c.1605G>T (p.Gln535His) c.1665G>T (p.Gln555His) n.1319G>T c.1911G>T (p.Gln637His) | gnomAD v4 |
| 11 | g.64804397C= | CA1978916665 | MEN1 | c.1785G= (p.Gln595=) c.*1078G= (n.*1078G=) c.1761G= (p.Gln587=) c.1770G= (p.Gln590=) c.*866G= (n.*866G=) c.1112G= n.2263G= n.1732G= n.2271G= n.2047G= c.1896G= (p.Gln632=) c.1605G= (p.Gln535=) c.1665G= (p.Gln555=) n.1319G= c.1911G= (p.Gln637=) |