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.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 |
11 | g.64804498_64804500del | CA009279 | MEN1 | c.1685_1687del (p.Lys562del) c.*978_*980del (n.*978_*980del) c.1661_1663del (p.Lys554del) c.1670_1672del (p.Lys557del) c.*766_*768del (n.*766_*768del) c.1012_1014del n.2163_2165del n.1632_1634del n.2052_2054del n.2171_2173del n.1947_1949del c.1796_1798del (p.Lys599del) c.1505_1507del (p.Lys502del) c.1565_1567del (p.Lys522del) n.1219_1221del c.1811_1813del (p.Lys604del) | ClinVar dbSNP |
11 | g.64804498_64804502delinsTCTCA | CA1978917222 | MEN1 | c.1680_1684delinsTGAGA (p.Ser560=) c.*973_*977delinsTGAGA (n.*973_*977delinsTGAGA) c.1656_1660delinsTGAGA (p.Ser552=) c.1665_1669delinsTGAGA (p.Ser555=) c.*761_*765delinsTGAGA (n.*761_*765delinsTGAGA) c.1007_1011delinsTGAGA n.2158_2162delinsTGAGA n.1627_1631delinsTGAGA n.2047_2051delinsTGAGA n.2166_2170delinsTGAGA n.1942_1946delinsTGAGA c.1791_1795delinsTGAGA (p.Ser597=) c.1500_1504delinsTGAGA (p.Ser500=) c.1560_1564delinsTGAGA (p.Ser520=) n.1214_1218delinsTGAGA c.1806_1810delinsTGAGA (p.Ser602=) | |
11 | g.64804499_64804506dup | CA2695214501 | MEN1 | c.1677_1684dup (p.Lys562ArgfsTer5) c.*970_*977dup (n.*970_*977dup) c.1653_1660dup (p.Lys554ArgfsTer5) c.1662_1669dup (p.Lys557ArgfsTer5) c.*758_*765dup (n.*758_*765dup) c.1004_1011dup n.2155_2162dup n.1624_1631dup n.2044_2051dup n.2163_2170dup n.1939_1946dup c.1788_1795dup (p.Lys599ArgfsTer5) c.1497_1504dup (p.Lys502ArgfsTer5) c.1557_1564dup (p.Lys522ArgfsTer5) n.1211_1218dup c.1803_1810dup (p.Lys604ArgfsTer5) | |
11 | g.64804499C>A | CA381177781 | MEN1 | c.1683G>T (p.Glu561Asp) c.*976G>T (n.*976G>T) c.1659G>T (p.Glu553Asp) c.1668G>T (p.Glu556Asp) c.*764G>T (n.*764G>T) c.1010G>T n.2161G>T n.1630G>T n.2050G>T n.2169G>T n.1945G>T c.1794G>T (p.Glu598Asp) c.1503G>T (p.Glu501Asp) c.1563G>T (p.Glu521Asp) n.1217G>T c.1809G>T (p.Glu603Asp) | |
11 | g.64804499C>G | CA381177783 | MEN1 | c.1683G>C (p.Glu561Asp) c.*976G>C (n.*976G>C) c.1659G>C (p.Glu553Asp) c.1668G>C (p.Glu556Asp) c.*764G>C (n.*764G>C) c.1010G>C n.2161G>C n.1630G>C n.2050G>C n.2169G>C n.1945G>C c.1794G>C (p.Glu598Asp) c.1503G>C (p.Glu501Asp) c.1563G>C (p.Glu521Asp) n.1217G>C c.1809G>C (p.Glu603Asp) | |
11 | g.64804499C>T | CA475163451 | MEN1 | c.1683G>A (p.Glu561=) c.*976G>A (n.*976G>A) c.1659G>A (p.Glu553=) c.1668G>A (p.Glu556=) c.*764G>A (n.*764G>A) c.1010G>A n.2161G>A n.1630G>A n.2050G>A n.2169G>A n.1945G>A c.1794G>A (p.Glu598=) c.1503G>A (p.Glu501=) c.1563G>A (p.Glu521=) n.1217G>A c.1809G>A (p.Glu603=) | ClinVar dbSNP |
11 | g.64804502_64804505del | CA645369569 | MEN1 | c.1680_1683del (p.Ser560ArgfsTer3) c.*973_*976del (n.*973_*976del) c.1656_1659del (p.Ser552ArgfsTer3) c.1665_1668del (p.Ser555ArgfsTer3) c.*761_*764del (n.*761_*764del) c.1007_1010del n.2158_2161del n.1627_1630del n.2047_2050del n.2166_2169del n.1942_1945del c.1791_1794del (p.Ser597ArgfsTer3) c.1500_1503del (p.Ser500ArgfsTer3) c.1560_1563del (p.Ser520ArgfsTer3) n.1214_1217del c.1806_1809del (p.Ser602ArgfsTer3) | ClinVar dbSNP gnomAD v4 |
11 | g.64804500T>A | CA381177786 | MEN1 | c.1682A>T (p.Glu561Val) c.*975A>T (n.*975A>T) c.1658A>T (p.Glu553Val) c.1667A>T (p.Glu556Val) c.*763A>T (n.*763A>T) c.1009A>T n.2160A>T n.1629A>T n.2049A>T n.2168A>T n.1944A>T c.1793A>T (p.Glu598Val) c.1502A>T (p.Glu501Val) c.1562A>T (p.Glu521Val) n.1216A>T c.1808A>T (p.Glu603Val) | |
11 | g.64804500T>C | CA381177787 | MEN1 | c.1682A>G (p.Glu561Gly) c.*975A>G (n.*975A>G) c.1658A>G (p.Glu553Gly) c.1667A>G (p.Glu556Gly) c.*763A>G (n.*763A>G) c.1009A>G n.2160A>G n.1629A>G n.2049A>G n.2168A>G n.1944A>G c.1793A>G (p.Glu598Gly) c.1502A>G (p.Glu501Gly) c.1562A>G (p.Glu521Gly) n.1216A>G c.1808A>G (p.Glu603Gly) | |
11 | g.64804500T>G | CA381177788 | MEN1 | c.1682A>C (p.Glu561Ala) c.*975A>C (n.*975A>C) c.1658A>C (p.Glu553Ala) c.1667A>C (p.Glu556Ala) c.*763A>C (n.*763A>C) c.1009A>C n.2160A>C n.1629A>C n.2049A>C n.2168A>C n.1944A>C c.1793A>C (p.Glu598Ala) c.1502A>C (p.Glu501Ala) c.1562A>C (p.Glu521Ala) n.1216A>C c.1808A>C (p.Glu603Ala) | |
11 | g.64804501C>A | CA381177791 | MEN1 | c.1681G>T (p.Glu561Ter) c.*974G>T (n.*974G>T) c.1657G>T (p.Glu553Ter) c.1666G>T (p.Glu556Ter) c.*762G>T (n.*762G>T) c.1008G>T n.2159G>T n.1628G>T n.2048G>T n.2167G>T n.1943G>T c.1792G>T (p.Glu598Ter) c.1501G>T (p.Glu501Ter) c.1561G>T (p.Glu521Ter) n.1215G>T c.1807G>T (p.Glu603Ter) | ClinVar dbSNP |
11 | g.64804501C= | CA1978917243 | MEN1 | c.1681G= (p.Glu561=) c.*974G= (n.*974G=) c.1657G= (p.Glu553=) c.1666G= (p.Glu556=) c.*762G= (n.*762G=) c.1008G= n.2159G= n.1628G= n.2048G= n.2167G= n.1943G= c.1792G= (p.Glu598=) c.1501G= (p.Glu501=) c.1561G= (p.Glu521=) n.1215G= c.1807G= (p.Glu603=) | |
11 | g.64804501C>G | CA381177792 | MEN1 | c.1681G>C (p.Glu561Gln) c.*974G>C (n.*974G>C) c.1657G>C (p.Glu553Gln) c.1666G>C (p.Glu556Gln) c.*762G>C (n.*762G>C) c.1008G>C n.2159G>C n.1628G>C n.2048G>C n.2167G>C n.1943G>C c.1792G>C (p.Glu598Gln) c.1501G>C (p.Glu501Gln) c.1561G>C (p.Glu521Gln) n.1215G>C c.1807G>C (p.Glu603Gln) | |
11 | g.64804501C>T | CA381177794 | MEN1 | c.1681G>A (p.Glu561Lys) c.*974G>A (n.*974G>A) c.1657G>A (p.Glu553Lys) c.1666G>A (p.Glu556Lys) c.*762G>A (n.*762G>A) c.1008G>A n.2159G>A n.1628G>A n.2048G>A n.2167G>A n.1943G>A c.1792G>A (p.Glu598Lys) c.1501G>A (p.Glu501Lys) c.1561G>A (p.Glu521Lys) n.1215G>A c.1807G>A (p.Glu603Lys) | |
11 | g.64804502A>C | CA381177796 | MEN1 | c.1680T>G (p.Ser560Arg) c.*973T>G (n.*973T>G) c.1656T>G (p.Ser552Arg) c.1665T>G (p.Ser555Arg) c.*761T>G (n.*761T>G) c.1007T>G n.2158T>G n.1627T>G n.2047T>G n.2166T>G n.1942T>G c.1791T>G (p.Ser597Arg) c.1500T>G (p.Ser500Arg) c.1560T>G (p.Ser520Arg) n.1214T>G c.1806T>G (p.Ser602Arg) | |
11 | g.64804502A>G | CA475163466 | MEN1 | c.1680T>C (p.Ser560=) c.*973T>C (n.*973T>C) c.1656T>C (p.Ser552=) c.1665T>C (p.Ser555=) c.*761T>C (n.*761T>C) c.1007T>C n.2158T>C n.1627T>C n.2047T>C n.2166T>C n.1942T>C c.1791T>C (p.Ser597=) c.1500T>C (p.Ser500=) c.1560T>C (p.Ser520=) n.1214T>C c.1806T>C (p.Ser602=) | |
11 | g.64804502A>T | CA381177798 | MEN1 | c.1680T>A (p.Ser560Arg) c.*973T>A (n.*973T>A) c.1656T>A (p.Ser552Arg) c.1665T>A (p.Ser555Arg) c.*761T>A (n.*761T>A) c.1007T>A n.2158T>A n.1627T>A n.2047T>A n.2166T>A n.1942T>A c.1791T>A (p.Ser597Arg) c.1500T>A (p.Ser500Arg) c.1560T>A (p.Ser520Arg) n.1214T>A c.1806T>A (p.Ser602Arg) | |
11 | g.64804503C>A | CA381177800 | MEN1 | c.1679G>T (p.Ser560Ile) c.*972G>T (n.*972G>T) c.1655G>T (p.Ser552Ile) c.1664G>T (p.Ser555Ile) c.*760G>T (n.*760G>T) c.1006G>T n.2157G>T n.1626G>T n.2046G>T n.2165G>T n.1941G>T c.1790G>T (p.Ser597Ile) c.1499G>T (p.Ser500Ile) c.1559G>T (p.Ser520Ile) n.1213G>T c.1805G>T (p.Ser602Ile) | dbSNP |
11 | g.64804503C= | CA1978917249 | MEN1 | c.1679G= (p.Ser560=) c.*972G= (n.*972G=) c.1655G= (p.Ser552=) c.1664G= (p.Ser555=) c.*760G= (n.*760G=) c.1006G= n.2157G= n.1626G= n.2046G= n.2165G= n.1941G= c.1790G= (p.Ser597=) c.1499G= (p.Ser500=) c.1559G= (p.Ser520=) n.1213G= c.1805G= (p.Ser602=) | |
11 | g.64804503C>G | CA381177801 | MEN1 | c.1679G>C (p.Ser560Thr) c.*972G>C (n.*972G>C) c.1655G>C (p.Ser552Thr) c.1664G>C (p.Ser555Thr) c.*760G>C (n.*760G>C) c.1006G>C n.2157G>C n.1626G>C n.2046G>C n.2165G>C n.1941G>C c.1790G>C (p.Ser597Thr) c.1499G>C (p.Ser500Thr) c.1559G>C (p.Ser520Thr) n.1213G>C c.1805G>C (p.Ser602Thr) | |
11 | g.64804503C>T | CA338972 | MEN1 | c.1679G>A (p.Ser560Asn) c.*972G>A (n.*972G>A) c.1655G>A (p.Ser552Asn) c.1664G>A (p.Ser555Asn) c.*760G>A (n.*760G>A) c.1006G>A n.2157G>A n.1626G>A n.2046G>A n.2165G>A n.1941G>A c.1790G>A (p.Ser597Asn) c.1499G>A (p.Ser500Asn) c.1559G>A (p.Ser520Asn) n.1213G>A c.1805G>A (p.Ser602Asn) | ClinVar dbSNP |
11 | g.64804505_64804506del | CA2695214502 | MEN1 | c.1678_1679del (p.Ser560Ter) c.*971_*972del (n.*971_*972del) c.1654_1655del (p.Ser552Ter) c.1663_1664del (p.Ser555Ter) c.*759_*760del (n.*759_*760del) c.1005_1006del n.2156_2157del n.1625_1626del n.2045_2046del n.2164_2165del n.1940_1941del c.1789_1790del (p.Ser597Ter) c.1498_1499del (p.Ser500Ter) c.1558_1559del (p.Ser520Ter) n.1212_1213del c.1804_1805del (p.Ser602Ter) | |
11 | g.64804504T>A | CA381177804 | MEN1 | c.1678A>T (p.Ser560Cys) c.*971A>T (n.*971A>T) c.1654A>T (p.Ser552Cys) c.1663A>T (p.Ser555Cys) c.*759A>T (n.*759A>T) c.1005A>T n.2156A>T n.1625A>T n.2045A>T n.2164A>T n.1940A>T c.1789A>T (p.Ser597Cys) c.1498A>T (p.Ser500Cys) c.1558A>T (p.Ser520Cys) n.1212A>T c.1804A>T (p.Ser602Cys) | |
11 | g.64804504T>C | CA381177806 | MEN1 | c.1678A>G (p.Ser560Gly) c.*971A>G (n.*971A>G) c.1654A>G (p.Ser552Gly) c.1663A>G (p.Ser555Gly) c.*759A>G (n.*759A>G) c.1005A>G n.2156A>G n.1625A>G n.2045A>G n.2164A>G n.1940A>G c.1789A>G (p.Ser597Gly) c.1498A>G (p.Ser500Gly) c.1558A>G (p.Ser520Gly) n.1212A>G c.1804A>G (p.Ser602Gly) | ClinVar |
11 | g.64804504T>G | CA381177805 | MEN1 | c.1678A>C (p.Ser560Arg) c.*971A>C (n.*971A>C) c.1654A>C (p.Ser552Arg) c.1663A>C (p.Ser555Arg) c.*759A>C (n.*759A>C) c.1005A>C n.2156A>C n.1625A>C n.2045A>C n.2164A>C n.1940A>C c.1789A>C (p.Ser597Arg) c.1498A>C (p.Ser500Arg) c.1558A>C (p.Ser520Arg) n.1212A>C c.1804A>C (p.Ser602Arg) | |
11 | g.64804505del | CA2695214503 | MEN1 | c.1677del (p.Ser560ValfsTer4) c.*970del (n.*970del) c.1653del (p.Ser552ValfsTer4) c.1662del (p.Ser555ValfsTer4) c.*758del (n.*758del) c.1004del n.2155del n.1624del n.2044del n.2163del n.1939del c.1788del (p.Ser597ValfsTer4) c.1497del (p.Ser500ValfsTer4) c.1557del (p.Ser520ValfsTer4) n.1211del c.1803del (p.Ser602ValfsTer4) | |
11 | g.64804505C>A | CA381177809 | MEN1 | c.1677G>T (p.Gln559His) c.*970G>T (n.*970G>T) c.1653G>T (p.Gln551His) c.1662G>T (p.Gln554His) c.*758G>T (n.*758G>T) c.1004G>T n.2155G>T n.1624G>T n.2044G>T n.2163G>T n.1939G>T c.1788G>T (p.Gln596His) c.1497G>T (p.Gln499His) c.1557G>T (p.Gln519His) n.1211G>T c.1803G>T (p.Gln601His) | |
11 | g.64804505C= | CA1978917253 | MEN1 | c.1677G= (p.Gln559=) c.*970G= (n.*970G=) c.1653G= (p.Gln551=) c.1662G= (p.Gln554=) c.*758G= (n.*758G=) c.1004G= n.2155G= n.1624G= n.2044G= n.2163G= n.1939G= c.1788G= (p.Gln596=) c.1497G= (p.Gln499=) c.1557G= (p.Gln519=) n.1211G= c.1803G= (p.Gln601=) | |
11 | g.64804505C>G | CA381177811 | MEN1 | c.1677G>C (p.Gln559His) c.*970G>C (n.*970G>C) c.1653G>C (p.Gln551His) c.1662G>C (p.Gln554His) c.*758G>C (n.*758G>C) c.1004G>C n.2155G>C n.1624G>C n.2044G>C n.2163G>C n.1939G>C c.1788G>C (p.Gln596His) c.1497G>C (p.Gln499His) c.1557G>C (p.Gln519His) n.1211G>C c.1803G>C (p.Gln601His) | |
11 | g.64804505C>T | CA223911764 | MEN1 | c.1677G>A (p.Gln559=) c.*970G>A (n.*970G>A) c.1653G>A (p.Gln551=) c.1662G>A (p.Gln554=) c.*758G>A (n.*758G>A) c.1004G>A n.2155G>A n.1624G>A n.2044G>A n.2163G>A n.1939G>A c.1788G>A (p.Gln596=) c.1497G>A (p.Gln499=) c.1557G>A (p.Gln519=) n.1211G>A c.1803G>A (p.Gln601=) | dbSNP |
11 | g.64804506T>A | CA381177814 | MEN1 | c.1676A>T (p.Gln559Leu) c.*969A>T (n.*969A>T) c.1652A>T (p.Gln551Leu) c.1661A>T (p.Gln554Leu) c.*757A>T (n.*757A>T) c.1003A>T n.2154A>T n.1623A>T n.2043A>T n.2162A>T n.1938A>T c.1787A>T (p.Gln596Leu) c.1496A>T (p.Gln499Leu) c.1556A>T (p.Gln519Leu) n.1210A>T c.1802A>T (p.Gln601Leu) | ClinVar |
11 | g.64804506T>C | CA381177816 | MEN1 | c.1676A>G (p.Gln559Arg) c.*969A>G (n.*969A>G) c.1652A>G (p.Gln551Arg) c.1661A>G (p.Gln554Arg) c.*757A>G (n.*757A>G) c.1003A>G n.2154A>G n.1623A>G n.2043A>G n.2162A>G n.1938A>G c.1787A>G (p.Gln596Arg) c.1496A>G (p.Gln499Arg) c.1556A>G (p.Gln519Arg) n.1210A>G c.1802A>G (p.Gln601Arg) | |
11 | g.64804506T>G | CA381177817 | MEN1 | c.1676A>C (p.Gln559Pro) c.*969A>C (n.*969A>C) c.1652A>C (p.Gln551Pro) c.1661A>C (p.Gln554Pro) c.*757A>C (n.*757A>C) c.1003A>C n.2154A>C n.1623A>C n.2043A>C n.2162A>C n.1938A>C c.1787A>C (p.Gln596Pro) c.1496A>C (p.Gln499Pro) c.1556A>C (p.Gln519Pro) n.1210A>C c.1802A>C (p.Gln601Pro) | |
11 | g.64804507G>A | CA009272 | MEN1 | c.1675C>T (p.Gln559Ter) c.*968C>T (n.*968C>T) c.1651C>T (p.Gln551Ter) c.1660C>T (p.Gln554Ter) c.*756C>T (n.*756C>T) c.1002C>T n.2153C>T n.1622C>T n.2042C>T n.2161C>T n.1937C>T c.1786C>T (p.Gln596Ter) c.1495C>T (p.Gln499Ter) c.1555C>T (p.Gln519Ter) n.1209C>T c.1801C>T (p.Gln601Ter) | ClinVar dbSNP |
11 | g.64804507G>C | CA381177820 | MEN1 | c.1675C>G (p.Gln559Glu) c.*968C>G (n.*968C>G) c.1651C>G (p.Gln551Glu) c.1660C>G (p.Gln554Glu) c.*756C>G (n.*756C>G) c.1002C>G n.2153C>G n.1622C>G n.2042C>G n.2161C>G n.1937C>G c.1786C>G (p.Gln596Glu) c.1495C>G (p.Gln499Glu) c.1555C>G (p.Gln519Glu) n.1209C>G c.1801C>G (p.Gln601Glu) | |
11 | g.64804507G= | CA1978917268 | MEN1 | c.1675C= (p.Gln559=) c.*968C= (n.*968C=) c.1651C= (p.Gln551=) c.1660C= (p.Gln554=) c.*756C= (n.*756C=) c.1002C= n.2153C= n.1622C= n.2042C= n.2161C= n.1937C= c.1786C= (p.Gln596=) c.1495C= (p.Gln499=) c.1555C= (p.Gln519=) n.1209C= c.1801C= (p.Gln601=) | |
11 | g.64804507G>T | CA381177821 | MEN1 | c.1675C>A (p.Gln559Lys) c.*968C>A (n.*968C>A) c.1651C>A (p.Gln551Lys) c.1660C>A (p.Gln554Lys) c.*756C>A (n.*756C>A) c.1002C>A n.2153C>A n.1622C>A n.2042C>A n.2161C>A n.1937C>A c.1786C>A (p.Gln596Lys) c.1495C>A (p.Gln499Lys) c.1555C>A (p.Gln519Lys) n.1209C>A c.1801C>A (p.Gln601Lys) | dbSNP |
11 | g.64804508del | CA2573147433 | MEN1 | c.1675del (p.Gln559ArgfsTer5) c.*968del (n.*968del) c.1651del (p.Gln551ArgfsTer5) c.1660del (p.Gln554ArgfsTer5) c.*756del (n.*756del) c.1002del n.2153del n.1622del n.2042del n.2161del n.1937del c.1786del (p.Gln596ArgfsTer5) c.1495del (p.Gln499ArgfsTer5) c.1555del (p.Gln519ArgfsTer5) n.1209del c.1801del (p.Gln601ArgfsTer5) | ClinVar dbSNP |
11 | g.64804508G>A | CA475163495 | MEN1 | c.1674C>T (p.Phe558=) c.*967C>T (n.*967C>T) c.1650C>T (p.Phe550=) c.1659C>T (p.Phe553=) c.*755C>T (n.*755C>T) c.1001C>T n.2152C>T n.1621C>T n.2041C>T n.2160C>T n.1936C>T c.1785C>T (p.Phe595=) c.1494C>T (p.Phe498=) c.1554C>T (p.Phe518=) n.1208C>T c.1800C>T (p.Phe600=) | ClinVar dbSNP gnomAD v4 |
11 | g.64804508G>C | CA381177824 | MEN1 | c.1674C>G (p.Phe558Leu) c.*967C>G (n.*967C>G) c.1650C>G (p.Phe550Leu) c.1659C>G (p.Phe553Leu) c.*755C>G (n.*755C>G) c.1001C>G n.2152C>G n.1621C>G n.2041C>G n.2160C>G n.1936C>G c.1785C>G (p.Phe595Leu) c.1494C>G (p.Phe498Leu) c.1554C>G (p.Phe518Leu) n.1208C>G c.1800C>G (p.Phe600Leu) | COSMIC |
11 | g.64804508G= | CA1978917277 | MEN1 | c.1674C= (p.Phe558=) c.*967C= (n.*967C=) c.1650C= (p.Phe550=) c.1659C= (p.Phe553=) c.*755C= (n.*755C=) c.1001C= n.2152C= n.1621C= n.2041C= n.2160C= n.1936C= c.1785C= (p.Phe595=) c.1494C= (p.Phe498=) c.1554C= (p.Phe518=) n.1208C= c.1800C= (p.Phe600=) | |
11 | g.64804508G>T | CA381177826 | MEN1 | c.1674C>A (p.Phe558Leu) c.*967C>A (n.*967C>A) c.1650C>A (p.Phe550Leu) c.1659C>A (p.Phe553Leu) c.*755C>A (n.*755C>A) c.1001C>A n.2152C>A n.1621C>A n.2041C>A n.2160C>A n.1936C>A c.1785C>A (p.Phe595Leu) c.1494C>A (p.Phe498Leu) c.1554C>A (p.Phe518Leu) n.1208C>A c.1800C>A (p.Phe600Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64804509A>C | CA381177828 | MEN1 | c.1673T>G (p.Phe558Cys) c.*966T>G (n.*966T>G) c.1649T>G (p.Phe550Cys) c.1658T>G (p.Phe553Cys) c.*754T>G (n.*754T>G) c.1000T>G n.2151T>G n.1620T>G n.2040T>G n.2159T>G n.1935T>G c.1784T>G (p.Phe595Cys) c.1493T>G (p.Phe498Cys) c.1553T>G (p.Phe518Cys) n.1207T>G c.1799T>G (p.Phe600Cys) | gnomAD v4 |
11 | g.64804509A>G | CA381177829 | MEN1 | c.1673T>C (p.Phe558Ser) c.*966T>C (n.*966T>C) c.1649T>C (p.Phe550Ser) c.1658T>C (p.Phe553Ser) c.*754T>C (n.*754T>C) c.1000T>C n.2151T>C n.1620T>C n.2040T>C n.2159T>C n.1935T>C c.1784T>C (p.Phe595Ser) c.1493T>C (p.Phe498Ser) c.1553T>C (p.Phe518Ser) n.1207T>C c.1799T>C (p.Phe600Ser) |