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.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.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.64804484del | CA2695214493 | MEN1 | c.1698del (p.Met566IlefsTer27) c.*991del (n.*991del) c.1674del (p.Met558IlefsTer27) c.1683del (p.Met561IlefsTer27) c.*779del (n.*779del) c.1025del n.2176del n.1645del n.2184del n.1960del c.1809del (p.Met603IlefsTer27) c.1518del (p.Met506IlefsTer27) c.1578del (p.Met526IlefsTer27) n.1232del c.1824del (p.Met608IlefsTer27) | |
| 11 | g.64804484C>A | CA381177706 | MEN1 | c.1698G>T (p.Met566Ile) c.*991G>T (n.*991G>T) c.1674G>T (p.Met558Ile) c.1683G>T (p.Met561Ile) c.*779G>T (n.*779G>T) c.1025G>T n.2176G>T n.1645G>T n.2184G>T n.1960G>T c.1809G>T (p.Met603Ile) c.1518G>T (p.Met506Ile) c.1578G>T (p.Met526Ile) n.1232G>T c.1824G>T (p.Met608Ile) | |
| 11 | g.64804484C>G | CA381177708 | MEN1 | c.1698G>C (p.Met566Ile) c.*991G>C (n.*991G>C) c.1674G>C (p.Met558Ile) c.1683G>C (p.Met561Ile) c.*779G>C (n.*779G>C) c.1025G>C n.2176G>C n.1645G>C n.2184G>C n.1960G>C c.1809G>C (p.Met603Ile) c.1518G>C (p.Met506Ile) c.1578G>C (p.Met526Ile) n.1232G>C c.1824G>C (p.Met608Ile) | |
| 11 | g.64804484C>T | CA381177709 | MEN1 | c.1698G>A (p.Met566Ile) c.*991G>A (n.*991G>A) c.1674G>A (p.Met558Ile) c.1683G>A (p.Met561Ile) c.*779G>A (n.*779G>A) c.1025G>A n.2176G>A n.1645G>A n.2184G>A n.1960G>A c.1809G>A (p.Met603Ile) c.1518G>A (p.Met506Ile) c.1578G>A (p.Met526Ile) n.1232G>A c.1824G>A (p.Met608Ile) | |
| 11 | g.64804485A= | CA1978917176 | MEN1 | c.1697T= (p.Met566=) c.*990T= (n.*990T=) c.1673T= (p.Met558=) c.1682T= (p.Met561=) c.*778T= (n.*778T=) c.1024T= n.2175T= n.1644T= n.2183T= n.1959T= c.1808T= (p.Met603=) c.1517T= (p.Met506=) c.1577T= (p.Met526=) n.1231T= c.1823T= (p.Met608=) | |
| 11 | g.64804485A>C | CA381177713 | MEN1 | c.1697T>G (p.Met566Arg) c.*990T>G (n.*990T>G) c.1673T>G (p.Met558Arg) c.1682T>G (p.Met561Arg) c.*778T>G (n.*778T>G) c.1024T>G n.2175T>G n.1644T>G n.2183T>G n.1959T>G c.1808T>G (p.Met603Arg) c.1517T>G (p.Met506Arg) c.1577T>G (p.Met526Arg) n.1231T>G c.1823T>G (p.Met608Arg) | ClinVar |
| 11 | g.64804485A>G | CA381177710 | MEN1 | c.1697T>C (p.Met566Thr) c.*990T>C (n.*990T>C) c.1673T>C (p.Met558Thr) c.1682T>C (p.Met561Thr) c.*778T>C (n.*778T>C) c.1024T>C n.2175T>C n.1644T>C n.2183T>C n.1959T>C c.1808T>C (p.Met603Thr) c.1517T>C (p.Met506Thr) c.1577T>C (p.Met526Thr) n.1231T>C c.1823T>C (p.Met608Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.64804485A>T | CA381177712 | MEN1 | c.1697T>A (p.Met566Lys) c.*990T>A (n.*990T>A) c.1673T>A (p.Met558Lys) c.1682T>A (p.Met561Lys) c.*778T>A (n.*778T>A) c.1024T>A n.2175T>A n.1644T>A n.2183T>A n.1959T>A c.1808T>A (p.Met603Lys) c.1517T>A (p.Met506Lys) c.1577T>A (p.Met526Lys) n.1231T>A c.1823T>A (p.Met608Lys) | |
| 11 | g.64804486T>A | CA381177716 | MEN1 | c.1696A>T (p.Met566Leu) c.*989A>T (n.*989A>T) c.1672A>T (p.Met558Leu) c.1681A>T (p.Met561Leu) c.*777A>T (n.*777A>T) c.1023A>T n.2174A>T n.1643A>T n.2182A>T n.1958A>T c.1807A>T (p.Met603Leu) c.1516A>T (p.Met506Leu) c.1576A>T (p.Met526Leu) n.1230A>T c.1822A>T (p.Met608Leu) | |
| 11 | g.64804486T>C | CA381177717 | MEN1 | c.1696A>G (p.Met566Val) c.*989A>G (n.*989A>G) c.1672A>G (p.Met558Val) c.1681A>G (p.Met561Val) c.*777A>G (n.*777A>G) c.1023A>G n.2174A>G n.1643A>G n.2182A>G n.1958A>G c.1807A>G (p.Met603Val) c.1516A>G (p.Met506Val) c.1576A>G (p.Met526Val) n.1230A>G c.1822A>G (p.Met608Val) | |
| 11 | g.64804486T>G | CA381177719 | MEN1 | c.1696A>C (p.Met566Leu) c.*989A>C (n.*989A>C) c.1672A>C (p.Met558Leu) c.1681A>C (p.Met561Leu) c.*777A>C (n.*777A>C) c.1023A>C n.2174A>C n.1643A>C n.2182A>C n.1958A>C c.1807A>C (p.Met603Leu) c.1516A>C (p.Met506Leu) c.1576A>C (p.Met526Leu) n.1230A>C c.1822A>C (p.Met608Leu) | |
| 11 | g.64804486_64804487insTAAAAAA | CA2540888900 | MEN1 | c.1695_1696insTTTTTTA (p.Met566PhefsTer?) c.*988_*989insTTTTTTA (n.*988_*989insTTTTTTA) c.1671_1672insTTTTTTA (p.Met558PhefsTer?) c.1680_1681insTTTTTTA (p.Met561PhefsTer?) c.*776_*777insTTTTTTA (n.*776_*777insTTTTTTA) c.1022_1023insTTTTTTA n.2173_2174insTTTTTTA n.1642_1643insTTTTTTA n.2181_2182insTTTTTTA n.1957_1958insTTTTTTA c.1806_1807insTTTTTTA (p.Met603PhefsTer?) c.1515_1516insTTTTTTA (p.Met506PhefsTer?) c.1575_1576insTTTTTTA (p.Met526PhefsTer?) n.1229_1230insTTTTTTA c.1821_1822insTTTTTTA (p.Met608PhefsTer?) | |
| 11 | g.64804487G>A | CA475163381 | MEN1 | c.1695C>T (p.Gly565=) c.*988C>T (n.*988C>T) c.1671C>T (p.Gly557=) c.1680C>T (p.Gly560=) c.*776C>T (n.*776C>T) c.1022C>T n.2173C>T n.1642C>T n.2181C>T n.1957C>T c.1806C>T (p.Gly602=) c.1515C>T (p.Gly505=) c.1575C>T (p.Gly525=) n.1229C>T c.1821C>T (p.Gly607=) | |
| 11 | g.64804487G>C | CA475163385 | MEN1 | c.1695C>G (p.Gly565=) c.*988C>G (n.*988C>G) c.1671C>G (p.Gly557=) c.1680C>G (p.Gly560=) c.*776C>G (n.*776C>G) c.1022C>G n.2173C>G n.1642C>G n.2181C>G n.1957C>G c.1806C>G (p.Gly602=) c.1515C>G (p.Gly505=) c.1575C>G (p.Gly525=) n.1229C>G c.1821C>G (p.Gly607=) | |
| 11 | g.64804487G>T | CA475163387 | MEN1 | c.1695C>A (p.Gly565=) c.*988C>A (n.*988C>A) c.1671C>A (p.Gly557=) c.1680C>A (p.Gly560=) c.*776C>A (n.*776C>A) c.1022C>A n.2173C>A n.1642C>A n.2181C>A n.1957C>A c.1806C>A (p.Gly602=) c.1515C>A (p.Gly505=) c.1575C>A (p.Gly525=) n.1229C>A c.1821C>A (p.Gly607=) | |
| 11 | g.64804487_64804495delinsGCCCTTCAT | CA1978917182 | MEN1 | c.1687_1695delinsATGAAGGGC (p.Met563=) c.*980_*988delinsATGAAGGGC (n.*980_*988delinsATGAAGGGC) c.1663_1671delinsATGAAGGGC (p.Met555=) c.1672_1680delinsATGAAGGGC (p.Met558=) c.*768_*776delinsATGAAGGGC (n.*768_*776delinsATGAAGGGC) c.1014_1022delinsATGAAGGGC n.2165_2173delinsATGAAGGGC n.1634_1642delinsATGAAGGGC n.2173_2181delinsATGAAGGGC n.1949_1957delinsATGAAGGGC c.1798_1806delinsATGAAGGGC (p.Met600=) c.1507_1515delinsATGAAGGGC (p.Met503=) c.1567_1575delinsATGAAGGGC (p.Met523=) n.1221_1229delinsATGAAGGGC c.1813_1821delinsATGAAGGGC (p.Met605=) | |
| 11 | g.64804488C>A | CA381177721 | MEN1 | c.1694G>T (p.Gly565Val) c.*987G>T (n.*987G>T) c.1670G>T (p.Gly557Val) c.1679G>T (p.Gly560Val) c.*775G>T (n.*775G>T) c.1021G>T n.2172G>T n.1641G>T n.2180G>T n.1956G>T c.1805G>T (p.Gly602Val) c.1514G>T (p.Gly505Val) c.1574G>T (p.Gly525Val) n.1228G>T c.1820G>T (p.Gly607Val) | dbSNP |
| 11 | g.64804488C>G | CA381177723 | MEN1 | c.1694G>C (p.Gly565Ala) c.*987G>C (n.*987G>C) c.1670G>C (p.Gly557Ala) c.1679G>C (p.Gly560Ala) c.*775G>C (n.*775G>C) c.1021G>C n.2172G>C n.1641G>C n.2180G>C n.1956G>C c.1805G>C (p.Gly602Ala) c.1514G>C (p.Gly505Ala) c.1574G>C (p.Gly525Ala) n.1228G>C c.1820G>C (p.Gly607Ala) | |
| 11 | g.64804488C>T | CA381177724 | MEN1 | c.1694G>A (p.Gly565Asp) c.*987G>A (n.*987G>A) c.1670G>A (p.Gly557Asp) c.1679G>A (p.Gly560Asp) c.*775G>A (n.*775G>A) c.1021G>A n.2172G>A n.1641G>A n.2180G>A n.1956G>A c.1805G>A (p.Gly602Asp) c.1514G>A (p.Gly505Asp) c.1574G>A (p.Gly525Asp) n.1228G>A c.1820G>A (p.Gly607Asp) | |
| 11 | g.64804490del | CA2695214495 | MEN1 | c.1694del (p.Gly565AlafsTer2) c.*987del (n.*987del) c.1670del (p.Gly557AlafsTer2) c.1679del (p.Gly560AlafsTer2) c.*775del (n.*775del) c.1021del n.2172del n.1641del n.2180del n.1956del c.1805del (p.Gly602AlafsTer2) c.1514del (p.Gly505AlafsTer2) c.1574del (p.Gly525AlafsTer2) n.1228del c.1820del (p.Gly607AlafsTer2) | |
| 11 | g.64804489_64804496del | CA916081642 | MEN1 | c.1687_1694del (p.Met563HisfsTer?) c.*980_*987del (n.*980_*987del) c.1663_1670del (p.Met555HisfsTer?) c.1672_1679del (p.Met558HisfsTer?) c.*768_*775del (n.*768_*775del) c.1014_1021del n.2165_2172del n.1634_1641del n.2173_2180del n.1949_1956del c.1798_1805del (p.Met600HisfsTer?) c.1507_1514del (p.Met503HisfsTer?) c.1567_1574del (p.Met523HisfsTer?) n.1221_1228del c.1813_1820del (p.Met605HisfsTer?) | ClinVar dbSNP |
| 11 | g.64804489C>A | CA381177725 | MEN1 | c.1693G>T (p.Gly565Cys) c.*986G>T (n.*986G>T) c.1669G>T (p.Gly557Cys) c.1678G>T (p.Gly560Cys) c.*774G>T (n.*774G>T) c.1020G>T n.2171G>T n.1640G>T n.2179G>T n.1955G>T c.1804G>T (p.Gly602Cys) c.1513G>T (p.Gly505Cys) c.1573G>T (p.Gly525Cys) n.1227G>T c.1819G>T (p.Gly607Cys) | |
| 11 | g.64804489C>G | CA381177727 | MEN1 | c.1693G>C (p.Gly565Arg) c.*986G>C (n.*986G>C) c.1669G>C (p.Gly557Arg) c.1678G>C (p.Gly560Arg) c.*774G>C (n.*774G>C) c.1020G>C n.2171G>C n.1640G>C n.2179G>C n.1955G>C c.1804G>C (p.Gly602Arg) c.1513G>C (p.Gly505Arg) c.1573G>C (p.Gly525Arg) n.1227G>C c.1819G>C (p.Gly607Arg) | |
| 11 | g.64804489C>T | CA381177728 | MEN1 | c.1693G>A (p.Gly565Ser) c.*986G>A (n.*986G>A) c.1669G>A (p.Gly557Ser) c.1678G>A (p.Gly560Ser) c.*774G>A (n.*774G>A) c.1020G>A n.2171G>A n.1640G>A n.2179G>A n.1955G>A c.1804G>A (p.Gly602Ser) c.1513G>A (p.Gly505Ser) c.1573G>A (p.Gly525Ser) n.1227G>A c.1819G>A (p.Gly607Ser) | ClinVar dbSNP |
| 11 | g.64804490C>A | CA381177730 | MEN1 | c.1692G>T (p.Lys564Asn) c.*985G>T (n.*985G>T) c.1668G>T (p.Lys556Asn) c.1677G>T (p.Lys559Asn) c.*773G>T (n.*773G>T) c.1019G>T n.2170G>T n.1639G>T n.2059G>T n.2178G>T n.1954G>T c.1803G>T (p.Lys601Asn) c.1512G>T (p.Lys504Asn) c.1572G>T (p.Lys524Asn) n.1226G>T c.1818G>T (p.Lys606Asn) | dbSNP |
| 11 | g.64804490C>G | CA381177732 | MEN1 | c.1692G>C (p.Lys564Asn) c.*985G>C (n.*985G>C) c.1668G>C (p.Lys556Asn) c.1677G>C (p.Lys559Asn) c.*773G>C (n.*773G>C) c.1019G>C n.2170G>C n.1639G>C n.2059G>C n.2178G>C n.1954G>C c.1803G>C (p.Lys601Asn) c.1512G>C (p.Lys504Asn) c.1572G>C (p.Lys524Asn) n.1226G>C c.1818G>C (p.Lys606Asn) | |
| 11 | g.64804490C>T | CA475163403 | MEN1 | c.1692G>A (p.Lys564=) c.*985G>A (n.*985G>A) c.1668G>A (p.Lys556=) c.1677G>A (p.Lys559=) c.*773G>A (n.*773G>A) c.1019G>A n.2170G>A n.1639G>A n.2059G>A n.2178G>A n.1954G>A c.1803G>A (p.Lys601=) c.1512G>A (p.Lys504=) c.1572G>A (p.Lys524=) n.1226G>A c.1818G>A (p.Lys606=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64804491T>A | CA381177738 | MEN1 | c.1691A>T (p.Lys564Met) c.*984A>T (n.*984A>T) c.1667A>T (p.Lys556Met) c.1676A>T (p.Lys559Met) c.*772A>T (n.*772A>T) c.1018A>T n.2169A>T n.1638A>T n.2058A>T n.2177A>T n.1953A>T c.1802A>T (p.Lys601Met) c.1511A>T (p.Lys504Met) c.1571A>T (p.Lys524Met) n.1225A>T c.1817A>T (p.Lys606Met) | |
| 11 | g.64804491T>C | CA381177736 | MEN1 | c.1691A>G (p.Lys564Arg) c.*984A>G (n.*984A>G) c.1667A>G (p.Lys556Arg) c.1676A>G (p.Lys559Arg) c.*772A>G (n.*772A>G) c.1018A>G n.2169A>G n.1638A>G n.2058A>G n.2177A>G n.1953A>G c.1802A>G (p.Lys601Arg) c.1511A>G (p.Lys504Arg) c.1571A>G (p.Lys524Arg) n.1225A>G c.1817A>G (p.Lys606Arg) | gnomAD v4 |
| 11 | g.64804491T>G | CA381177734 | MEN1 | c.1691A>C (p.Lys564Thr) c.*984A>C (n.*984A>C) c.1667A>C (p.Lys556Thr) c.1676A>C (p.Lys559Thr) c.*772A>C (n.*772A>C) c.1018A>C n.2169A>C n.1638A>C n.2058A>C n.2177A>C n.1953A>C c.1802A>C (p.Lys601Thr) c.1511A>C (p.Lys504Thr) c.1571A>C (p.Lys524Thr) n.1225A>C c.1817A>C (p.Lys606Thr) | |
| 11 | g.64804492del | CA2695214496 | MEN1 | c.1691del (p.Lys564ArgfsTer3) c.*984del (n.*984del) c.1667del (p.Lys556ArgfsTer3) c.1676del (p.Lys559ArgfsTer3) c.*772del (n.*772del) c.1018del n.2169del n.1638del n.2058del n.2177del n.1953del c.1802del (p.Lys601ArgfsTer3) c.1511del (p.Lys504ArgfsTer3) c.1571del (p.Lys524ArgfsTer3) n.1225del c.1817del (p.Lys606ArgfsTer3) | |
| 11 | g.64804492T>A | CA381177740 | MEN1 | c.1690A>T (p.Lys564Ter) c.*983A>T (n.*983A>T) c.1666A>T (p.Lys556Ter) c.1675A>T (p.Lys559Ter) c.*771A>T (n.*771A>T) c.1017A>T n.2168A>T n.1637A>T n.2057A>T n.2176A>T n.1952A>T c.1801A>T (p.Lys601Ter) c.1510A>T (p.Lys504Ter) c.1570A>T (p.Lys524Ter) n.1224A>T c.1816A>T (p.Lys606Ter) | ClinVar |
| 11 | g.64804492T>C | CA381177743 | MEN1 | c.1690A>G (p.Lys564Glu) c.*983A>G (n.*983A>G) c.1666A>G (p.Lys556Glu) c.1675A>G (p.Lys559Glu) c.*771A>G (n.*771A>G) c.1017A>G n.2168A>G n.1637A>G n.2057A>G n.2176A>G n.1952A>G c.1801A>G (p.Lys601Glu) c.1510A>G (p.Lys504Glu) c.1570A>G (p.Lys524Glu) n.1224A>G c.1816A>G (p.Lys606Glu) | |
| 11 | g.64804492T>G | CA381177742 | MEN1 | c.1690A>C (p.Lys564Gln) c.*983A>C (n.*983A>C) c.1666A>C (p.Lys556Gln) c.1675A>C (p.Lys559Gln) c.*771A>C (n.*771A>C) c.1017A>C n.2168A>C n.1637A>C n.2057A>C n.2176A>C n.1952A>C c.1801A>C (p.Lys601Gln) c.1510A>C (p.Lys504Gln) c.1570A>C (p.Lys524Gln) n.1224A>C c.1816A>C (p.Lys606Gln) | |
| 11 | g.64804492T= | CA1978917187 | MEN1 | c.1690A= (p.Lys564=) c.*983A= (n.*983A=) c.1666A= (p.Lys556=) c.1675A= (p.Lys559=) c.*771A= (n.*771A=) c.1017A= n.2168A= n.1637A= n.2057A= n.2176A= n.1952A= c.1801A= (p.Lys601=) c.1510A= (p.Lys504=) c.1570A= (p.Lys524=) n.1224A= c.1816A= (p.Lys606=) | |
| 11 | g.64804494_64804496del | CA2580084411 | MEN1 | c.1688_1690del (p.Met563del) c.*981_*983del (n.*981_*983del) c.1664_1666del (p.Met555del) c.1673_1675del (p.Met558del) c.*769_*771del (n.*769_*771del) c.1015_1017del n.2166_2168del n.1635_1637del n.2055_2057del n.2174_2176del n.1950_1952del c.1799_1801del (p.Met600del) c.1508_1510del (p.Met503del) c.1568_1570del (p.Met523del) n.1222_1224del c.1814_1816del (p.Met605del) | ClinVar |
| 11 | g.64804493C>A | CA381177745 | MEN1 | c.1689G>T (p.Met563Ile) c.*982G>T (n.*982G>T) c.1665G>T (p.Met555Ile) c.1674G>T (p.Met558Ile) c.*770G>T (n.*770G>T) c.1016G>T n.2167G>T n.1636G>T n.2056G>T n.2175G>T n.1951G>T c.1800G>T (p.Met600Ile) c.1509G>T (p.Met503Ile) c.1569G>T (p.Met523Ile) n.1223G>T c.1815G>T (p.Met605Ile) | dbSNP |
| 11 | g.64804493C>G | CA381177750 | MEN1 | c.1689G>C (p.Met563Ile) c.*982G>C (n.*982G>C) c.1665G>C (p.Met555Ile) c.1674G>C (p.Met558Ile) c.*770G>C (n.*770G>C) c.1016G>C n.2167G>C n.1636G>C n.2056G>C n.2175G>C n.1951G>C c.1800G>C (p.Met600Ile) c.1509G>C (p.Met503Ile) c.1569G>C (p.Met523Ile) n.1223G>C c.1815G>C (p.Met605Ile) | |
| 11 | g.64804493C>T | CA381177751 | MEN1 | c.1689G>A (p.Met563Ile) c.*982G>A (n.*982G>A) c.1665G>A (p.Met555Ile) c.1674G>A (p.Met558Ile) c.*770G>A (n.*770G>A) c.1016G>A n.2167G>A n.1636G>A n.2056G>A n.2175G>A n.1951G>A c.1800G>A (p.Met600Ile) c.1509G>A (p.Met503Ile) c.1569G>A (p.Met523Ile) n.1223G>A c.1815G>A (p.Met605Ile) | ClinVar dbSNP |
| 11 | g.64804493dup | CA891843127 | MEN1 | c.1689dup (p.Lys564GlufsTer?) c.*982dup (n.*982dup) c.1665dup (p.Lys556GlufsTer?) c.1674dup (p.Lys559GlufsTer?) c.*770dup (n.*770dup) c.1016dup n.2167dup n.1636dup n.2056dup n.2175dup n.1951dup c.1800dup (p.Lys601GlufsTer?) c.1509dup (p.Lys504GlufsTer?) c.1569dup (p.Lys524GlufsTer?) n.1223dup c.1815dup (p.Lys606GlufsTer?) | ClinVar dbSNP |
| 11 | g.64804494A>C | CA381177753 | MEN1 | c.1688T>G (p.Met563Arg) c.*981T>G (n.*981T>G) c.1664T>G (p.Met555Arg) c.1673T>G (p.Met558Arg) c.*769T>G (n.*769T>G) c.1015T>G n.2166T>G n.1635T>G n.2055T>G n.2174T>G n.1950T>G c.1799T>G (p.Met600Arg) c.1508T>G (p.Met503Arg) c.1568T>G (p.Met523Arg) n.1222T>G c.1814T>G (p.Met605Arg) | |
| 11 | g.64804494A>G | CA381177754 | MEN1 | c.1688T>C (p.Met563Thr) c.*981T>C (n.*981T>C) c.1664T>C (p.Met555Thr) c.1673T>C (p.Met558Thr) c.*769T>C (n.*769T>C) c.1015T>C n.2166T>C n.1635T>C n.2055T>C n.2174T>C n.1950T>C c.1799T>C (p.Met600Thr) c.1508T>C (p.Met503Thr) c.1568T>C (p.Met523Thr) n.1222T>C c.1814T>C (p.Met605Thr) | ClinVar |
| 11 | g.64804494A>T | CA381177756 | MEN1 | c.1688T>A (p.Met563Lys) c.*981T>A (n.*981T>A) c.1664T>A (p.Met555Lys) c.1673T>A (p.Met558Lys) c.*769T>A (n.*769T>A) c.1015T>A n.2166T>A n.1635T>A n.2055T>A n.2174T>A n.1950T>A c.1799T>A (p.Met600Lys) c.1508T>A (p.Met503Lys) c.1568T>A (p.Met523Lys) n.1222T>A c.1814T>A (p.Met605Lys) | |
| 11 | g.64804494_64804497delinsATCT | CA1978917196 | MEN1 | c.1685_1688delinsAGAT (p.Lys562=) c.*978_*981delinsAGAT (n.*978_*981delinsAGAT) c.1661_1664delinsAGAT (p.Lys554=) c.1670_1673delinsAGAT (p.Lys557=) c.*766_*769delinsAGAT (n.*766_*769delinsAGAT) c.1012_1015delinsAGAT n.2163_2166delinsAGAT n.1632_1635delinsAGAT n.2052_2055delinsAGAT n.2171_2174delinsAGAT n.1947_1950delinsAGAT c.1796_1799delinsAGAT (p.Lys599=) c.1505_1508delinsAGAT (p.Lys502=) c.1565_1568delinsAGAT (p.Lys522=) n.1219_1222delinsAGAT c.1811_1814delinsAGAT (p.Lys604=) | |
| 11 | g.64804494_64804525delinsGG | CA2580084412 | MEN1 | c.1657_1688delinsCC (p.Gly553_Met563delinsPro) c.*950_*981delinsCC (n.*950_*981delinsCC) c.1633_1664delinsCC (p.Gly545_Met555delinsPro) c.1642_1673delinsCC (p.Gly548_Met558delinsPro) c.*738_*769delinsCC (n.*738_*769delinsCC) c.984_1015delinsCC n.2135_2166delinsCC n.1604_1635delinsCC n.2024_2055delinsCC n.2143_2174delinsCC n.1919_1950delinsCC c.1768_1799delinsCC (p.Gly590_Met600delinsPro) c.1477_1508delinsCC (p.Gly493_Met503delinsPro) c.1537_1568delinsCC (p.Gly513_Met523delinsPro) n.1191_1222delinsCC c.1783_1814delinsCC (p.Gly595_Met605delinsPro) | ClinVar |