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.64804515_64804516delinsAG | CA1978917315 | MEN1 | c.1666_1667delinsCT (p.Leu556=) c.*959_*960delinsCT (n.*959_*960delinsCT) c.1642_1643delinsCT (p.Leu548=) c.1651_1652delinsCT (p.Leu551=) c.*747_*748delinsCT (n.*747_*748delinsCT) c.993_994delinsCT n.2144_2145delinsCT n.1613_1614delinsCT n.2033_2034delinsCT n.2152_2153delinsCT n.1928_1929delinsCT c.1777_1778delinsCT (p.Leu593=) c.1486_1487delinsCT (p.Leu496=) c.1546_1547delinsCT (p.Leu516=) n.1200_1201delinsCT c.1792_1793delinsCT (p.Leu598=) | |
11 | g.64804515_64804544del | CA645574106 | MEN1 | c.1638_1667del (p.Ala547_Leu556del) c.*931_*960del (n.*931_*960del) c.1614_1643del (p.Ala539_Leu548del) c.1623_1652del (p.Ala542_Leu551del) c.*719_*748del (n.*719_*748del) c.965_994del n.2116_2145del n.1585_1614del n.2005_2034del n.2124_2153del n.1900_1929del c.1749_1778del (p.Ala584_Leu593del) c.1458_1487del (p.Ala487_Leu496del) c.1518_1547del (p.Ala507_Leu516del) n.1172_1201del c.1764_1793del (p.Ala589_Leu598del) | COSMIC |
11 | g.64804516del | CA009255 | MEN1 | c.1666del (p.Leu556SerfsTer8) c.*959del (n.*959del) c.1642del (p.Leu548SerfsTer8) c.1651del (p.Leu551SerfsTer8) c.*747del (n.*747del) c.993del n.2144del n.1613del n.2033del n.2152del n.1928del c.1777del (p.Leu593SerfsTer8) c.1486del (p.Leu496SerfsTer8) c.1546del (p.Leu516SerfsTer8) n.1200del c.1792del (p.Leu598SerfsTer8) | ClinVar dbSNP |
11 | g.64804516G>A | CA223911777 | MEN1 | c.1666C>T (p.Leu556Phe) c.*959C>T (n.*959C>T) c.1642C>T (p.Leu548Phe) c.1651C>T (p.Leu551Phe) c.*747C>T (n.*747C>T) c.993C>T n.2144C>T n.1613C>T n.2033C>T n.2152C>T n.1928C>T c.1777C>T (p.Leu593Phe) c.1486C>T (p.Leu496Phe) c.1546C>T (p.Leu516Phe) n.1200C>T c.1792C>T (p.Leu598Phe) | ClinVar dbSNP gnomAD v4 |
11 | g.64804516G>C | CA381177869 | MEN1 | c.1666C>G (p.Leu556Val) c.*959C>G (n.*959C>G) c.1642C>G (p.Leu548Val) c.1651C>G (p.Leu551Val) c.*747C>G (n.*747C>G) c.993C>G n.2144C>G n.1613C>G n.2033C>G n.2152C>G n.1928C>G c.1777C>G (p.Leu593Val) c.1486C>G (p.Leu496Val) c.1546C>G (p.Leu516Val) n.1200C>G c.1792C>G (p.Leu598Val) | |
11 | g.64804516G= | CA1978917329 | MEN1 | c.1666C= (p.Leu556=) c.*959C= (n.*959C=) c.1642C= (p.Leu548=) c.1651C= (p.Leu551=) c.*747C= (n.*747C=) c.993C= n.2144C= n.1613C= n.2033C= n.2152C= n.1928C= c.1777C= (p.Leu593=) c.1486C= (p.Leu496=) c.1546C= (p.Leu516=) n.1200C= c.1792C= (p.Leu598=) | |
11 | g.64804516G>T | CA381177875 | MEN1 | c.1666C>A (p.Leu556Ile) c.*959C>A (n.*959C>A) c.1642C>A (p.Leu548Ile) c.1651C>A (p.Leu551Ile) c.*747C>A (n.*747C>A) c.993C>A n.2144C>A n.1613C>A n.2033C>A n.2152C>A n.1928C>A c.1777C>A (p.Leu593Ile) c.1486C>A (p.Leu496Ile) c.1546C>A (p.Leu516Ile) n.1200C>A c.1792C>A (p.Leu598Ile) | |
11 | g.64804517C>A | CA475163547 | MEN1 | c.1665G>T (p.Val555=) c.*958G>T (n.*958G>T) c.1641G>T (p.Val547=) c.1650G>T (p.Val550=) c.*746G>T (n.*746G>T) c.992G>T n.2143G>T n.1612G>T n.2032G>T n.2151G>T n.1927G>T c.1776G>T (p.Val592=) c.1485G>T (p.Val495=) c.1545G>T (p.Val515=) n.1199G>T c.1791G>T (p.Val597=) | |
11 | g.64804517C= | CA1978917340 | MEN1 | c.1665G= (p.Val555=) c.*958G= (n.*958G=) c.1641G= (p.Val547=) c.1650G= (p.Val550=) c.*746G= (n.*746G=) c.992G= n.2143G= n.1612G= n.2032G= n.2151G= n.1927G= c.1776G= (p.Val592=) c.1485G= (p.Val495=) c.1545G= (p.Val515=) n.1199G= c.1791G= (p.Val597=) | |
11 | g.64804517C>G | CA475163549 | MEN1 | c.1665G>C (p.Val555=) c.*958G>C (n.*958G>C) c.1641G>C (p.Val547=) c.1650G>C (p.Val550=) c.*746G>C (n.*746G>C) c.992G>C n.2143G>C n.1612G>C n.2032G>C n.2151G>C n.1927G>C c.1776G>C (p.Val592=) c.1485G>C (p.Val495=) c.1545G>C (p.Val515=) n.1199G>C c.1791G>C (p.Val597=) | |
11 | g.64804517C>T | CA475163551 | MEN1 | c.1665G>A (p.Val555=) c.*958G>A (n.*958G>A) c.1641G>A (p.Val547=) c.1650G>A (p.Val550=) c.*746G>A (n.*746G>A) c.992G>A n.2143G>A n.1612G>A n.2032G>A n.2151G>A n.1927G>A c.1776G>A (p.Val592=) c.1485G>A (p.Val495=) c.1545G>A (p.Val515=) n.1199G>A c.1791G>A (p.Val597=) | ClinVar dbSNP |
11 | g.64804518A= | CA1978917375 | MEN1 | c.1664T= (p.Val555=) c.*957T= (n.*957T=) c.1640T= (p.Val547=) c.1649T= (p.Val550=) c.*745T= (n.*745T=) c.991T= n.2142T= n.1611T= n.2031T= n.2150T= n.1926T= c.1775T= (p.Val592=) c.1484T= (p.Val495=) c.1544T= (p.Val515=) n.1198T= c.1790T= (p.Val597=) | |
11 | g.64804518A>C | CA381177884 | MEN1 | c.1664T>G (p.Val555Gly) c.*957T>G (n.*957T>G) c.1640T>G (p.Val547Gly) c.1649T>G (p.Val550Gly) c.*745T>G (n.*745T>G) c.991T>G n.2142T>G n.1611T>G n.2031T>G n.2150T>G n.1926T>G c.1775T>G (p.Val592Gly) c.1484T>G (p.Val495Gly) c.1544T>G (p.Val515Gly) n.1198T>G c.1790T>G (p.Val597Gly) | ClinVar dbSNP |
11 | g.64804518A>G | CA381177882 | MEN1 | c.1664T>C (p.Val555Ala) c.*957T>C (n.*957T>C) c.1640T>C (p.Val547Ala) c.1649T>C (p.Val550Ala) c.*745T>C (n.*745T>C) c.991T>C n.2142T>C n.1611T>C n.2031T>C n.2150T>C n.1926T>C c.1775T>C (p.Val592Ala) c.1484T>C (p.Val495Ala) c.1544T>C (p.Val515Ala) n.1198T>C c.1790T>C (p.Val597Ala) | ClinVar dbSNP |
11 | g.64804518A>T | CA381177886 | MEN1 | c.1664T>A (p.Val555Glu) c.*957T>A (n.*957T>A) c.1640T>A (p.Val547Glu) c.1649T>A (p.Val550Glu) c.*745T>A (n.*745T>A) c.991T>A n.2142T>A n.1611T>A n.2031T>A n.2150T>A n.1926T>A c.1775T>A (p.Val592Glu) c.1484T>A (p.Val495Glu) c.1544T>A (p.Val515Glu) n.1198T>A c.1790T>A (p.Val597Glu) | |
11 | g.64804519C>A | CA060885 | MEN1 | c.1663G>T (p.Val555Leu) c.*956G>T (n.*956G>T) c.1639G>T (p.Val547Leu) c.1648G>T (p.Val550Leu) c.*744G>T (n.*744G>T) c.990G>T n.2141G>T n.1610G>T n.2030G>T n.2149G>T n.1925G>T c.1774G>T (p.Val592Leu) c.1483G>T (p.Val495Leu) c.1543G>T (p.Val515Leu) n.1197G>T c.1789G>T (p.Val597Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.64804519C= | CA1978917384 | MEN1 | c.1663G= (p.Val555=) c.*956G= (n.*956G=) c.1639G= (p.Val547=) c.1648G= (p.Val550=) c.*744G= (n.*744G=) c.990G= n.2141G= n.1610G= n.2030G= n.2149G= n.1925G= c.1774G= (p.Val592=) c.1483G= (p.Val495=) c.1543G= (p.Val515=) n.1197G= c.1789G= (p.Val597=) | |
11 | g.64804519C>G | CA060878 | MEN1 | c.1663G>C (p.Val555Leu) c.*956G>C (n.*956G>C) c.1639G>C (p.Val547Leu) c.1648G>C (p.Val550Leu) c.*744G>C (n.*744G>C) c.990G>C n.2141G>C n.1610G>C n.2030G>C n.2149G>C n.1925G>C c.1774G>C (p.Val592Leu) c.1483G>C (p.Val495Leu) c.1543G>C (p.Val515Leu) n.1197G>C c.1789G>C (p.Val597Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.64804519C>T | CA381177895 | MEN1 | c.1663G>A (p.Val555Met) c.*956G>A (n.*956G>A) c.1639G>A (p.Val547Met) c.1648G>A (p.Val550Met) c.*744G>A (n.*744G>A) c.990G>A n.2141G>A n.1610G>A n.2030G>A n.2149G>A n.1925G>A c.1774G>A (p.Val592Met) c.1483G>A (p.Val495Met) c.1543G>A (p.Val515Met) n.1197G>A c.1789G>A (p.Val597Met) | ClinVar dbSNP |
11 | g.64804521_64804527dup | CA2695214509 | MEN1 | c.1657_1663dup (p.Val555GlyfsTer9) c.*950_*956dup (n.*950_*956dup) c.1633_1639dup (p.Val547GlyfsTer9) c.1642_1648dup (p.Val550GlyfsTer9) c.*738_*744dup (n.*738_*744dup) c.984_990dup n.2135_2141dup n.1604_1610dup n.2024_2030dup n.2143_2149dup n.1919_1925dup c.1768_1774dup (p.Val592GlyfsTer9) c.1477_1483dup (p.Val495GlyfsTer9) c.1537_1543dup (p.Val515GlyfsTer9) n.1191_1197dup c.1783_1789dup (p.Val597GlyfsTer9) | |
11 | g.64804520T>A | CA475163565 | MEN1 | c.1662A>T (p.Pro554=) c.*955A>T (n.*955A>T) c.1638A>T (p.Pro546=) c.1647A>T (p.Pro549=) c.*743A>T (n.*743A>T) c.989A>T n.2140A>T n.1609A>T n.2029A>T n.2148A>T n.1924A>T c.1773A>T (p.Pro591=) c.1482A>T (p.Pro494=) c.1542A>T (p.Pro514=) n.1196A>T c.1788A>T (p.Pro596=) | |
11 | g.64804520T>C | CA475163566 | MEN1 | c.1662A>G (p.Pro554=) c.*955A>G (n.*955A>G) c.1638A>G (p.Pro546=) c.1647A>G (p.Pro549=) c.*743A>G (n.*743A>G) c.989A>G n.2140A>G n.1609A>G n.2029A>G n.2148A>G n.1924A>G c.1773A>G (p.Pro591=) c.1482A>G (p.Pro494=) c.1542A>G (p.Pro514=) n.1196A>G c.1788A>G (p.Pro596=) | ClinVar dbSNP gnomAD v4 |
11 | g.64804520T>G | CA475163567 | MEN1 | c.1662A>C (p.Pro554=) c.*955A>C (n.*955A>C) c.1638A>C (p.Pro546=) c.1647A>C (p.Pro549=) c.*743A>C (n.*743A>C) c.989A>C n.2140A>C n.1609A>C n.2029A>C n.2148A>C n.1924A>C c.1773A>C (p.Pro591=) c.1482A>C (p.Pro494=) c.1542A>C (p.Pro514=) n.1196A>C c.1788A>C (p.Pro596=) | |
11 | g.64804520dup | CA2695214510 | MEN1 | c.1662dup (p.Val555SerfsTer7) c.*955dup (n.*955dup) c.1638dup (p.Val547SerfsTer7) c.1647dup (p.Val550SerfsTer7) c.*743dup (n.*743dup) c.989dup n.2140dup n.1609dup n.2029dup n.2148dup n.1924dup c.1773dup (p.Val592SerfsTer7) c.1482dup (p.Val495SerfsTer7) c.1542dup (p.Val515SerfsTer7) n.1196dup c.1788dup (p.Val597SerfsTer7) | |
11 | g.64804521G>A | CA381177898 | MEN1 | c.1661C>T (p.Pro554Leu) c.*954C>T (n.*954C>T) c.1637C>T (p.Pro546Leu) c.1646C>T (p.Pro549Leu) c.*742C>T (n.*742C>T) c.988C>T n.2139C>T n.1608C>T n.2028C>T n.2147C>T n.1923C>T c.1772C>T (p.Pro591Leu) c.1481C>T (p.Pro494Leu) c.1541C>T (p.Pro514Leu) n.1195C>T c.1787C>T (p.Pro596Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.64804521G>C | CA381177900 | MEN1 | c.1661C>G (p.Pro554Arg) c.*954C>G (n.*954C>G) c.1637C>G (p.Pro546Arg) c.1646C>G (p.Pro549Arg) c.*742C>G (n.*742C>G) c.988C>G n.2139C>G n.1608C>G n.2028C>G n.2147C>G n.1923C>G c.1772C>G (p.Pro591Arg) c.1481C>G (p.Pro494Arg) c.1541C>G (p.Pro514Arg) n.1195C>G c.1787C>G (p.Pro596Arg) | |
11 | g.64804521G= | CA1978917402 | MEN1 | c.1661C= (p.Pro554=) c.*954C= (n.*954C=) c.1637C= (p.Pro546=) c.1646C= (p.Pro549=) c.*742C= (n.*742C=) c.988C= n.2139C= n.1608C= n.2028C= n.2147C= n.1923C= c.1772C= (p.Pro591=) c.1481C= (p.Pro494=) c.1541C= (p.Pro514=) n.1195C= c.1787C= (p.Pro596=) | |
11 | g.64804521G>T | CA381177903 | MEN1 | c.1661C>A (p.Pro554Gln) c.*954C>A (n.*954C>A) c.1637C>A (p.Pro546Gln) c.1646C>A (p.Pro549Gln) c.*742C>A (n.*742C>A) c.988C>A n.2139C>A n.1608C>A n.2028C>A n.2147C>A n.1923C>A c.1772C>A (p.Pro591Gln) c.1481C>A (p.Pro494Gln) c.1541C>A (p.Pro514Gln) n.1195C>A c.1787C>A (p.Pro596Gln) | |
11 | g.64804522G>A | CA381177906 | MEN1 | c.1660C>T (p.Pro554Ser) c.*953C>T (n.*953C>T) c.1636C>T (p.Pro546Ser) c.1645C>T (p.Pro549Ser) c.*741C>T (n.*741C>T) c.987C>T n.2138C>T n.1607C>T n.2027C>T n.2146C>T n.1922C>T c.1771C>T (p.Pro591Ser) c.1480C>T (p.Pro494Ser) c.1540C>T (p.Pro514Ser) n.1194C>T c.1786C>T (p.Pro596Ser) | |
11 | g.64804522G>C | CA381177909 | MEN1 | c.1660C>G (p.Pro554Ala) c.*953C>G (n.*953C>G) c.1636C>G (p.Pro546Ala) c.1645C>G (p.Pro549Ala) c.*741C>G (n.*741C>G) c.987C>G n.2138C>G n.1607C>G n.2027C>G n.2146C>G n.1922C>G c.1771C>G (p.Pro591Ala) c.1480C>G (p.Pro494Ala) c.1540C>G (p.Pro514Ala) n.1194C>G c.1786C>G (p.Pro596Ala) | |
11 | g.64804522G>T | CA381177912 | MEN1 | c.1660C>A (p.Pro554Thr) c.*953C>A (n.*953C>A) c.1636C>A (p.Pro546Thr) c.1645C>A (p.Pro549Thr) c.*741C>A (n.*741C>A) c.987C>A n.2138C>A n.1607C>A n.2027C>A n.2146C>A n.1922C>A c.1771C>A (p.Pro591Thr) c.1480C>A (p.Pro494Thr) c.1540C>A (p.Pro514Thr) n.1194C>A c.1786C>A (p.Pro596Thr) | |
11 | g.64804524_64804540del | CA2695214512 | MEN1 | c.1644_1660del (p.Pro549SerfsTer7) c.*937_*953del (n.*937_*953del) c.1620_1636del (p.Pro541SerfsTer7) c.1629_1645del (p.Pro544SerfsTer7) c.*725_*741del (n.*725_*741del) c.971_987del n.2122_2138del n.1591_1607del n.2011_2027del n.2130_2146del n.1906_1922del c.1755_1771del (p.Pro586SerfsTer7) c.1464_1480del (p.Pro489SerfsTer7) c.1524_1540del (p.Pro509SerfsTer7) n.1178_1194del c.1770_1786del (p.Pro591SerfsTer7) | |
11 | g.64804523A= | CA1978917406 | MEN1 | c.1659T= (p.Gly553=) c.*952T= (n.*952T=) c.1635T= (p.Gly545=) c.1644T= (p.Gly548=) c.*740T= (n.*740T=) c.986T= n.2137T= n.1606T= n.2026T= n.2145T= n.1921T= c.1770T= (p.Gly590=) c.1479T= (p.Gly493=) c.1539T= (p.Gly513=) n.1193T= c.1785T= (p.Gly595=) | |
11 | g.64804523A>C | CA475163576 | MEN1 | c.1659T>G (p.Gly553=) c.*952T>G (n.*952T>G) c.1635T>G (p.Gly545=) c.1644T>G (p.Gly548=) c.*740T>G (n.*740T>G) c.986T>G n.2137T>G n.1606T>G n.2026T>G n.2145T>G n.1921T>G c.1770T>G (p.Gly590=) c.1479T>G (p.Gly493=) c.1539T>G (p.Gly513=) n.1193T>G c.1785T>G (p.Gly595=) | dbSNP |
11 | g.64804523A>G | CA475163580 | MEN1 | c.1659T>C (p.Gly553=) c.*952T>C (n.*952T>C) c.1635T>C (p.Gly545=) c.1644T>C (p.Gly548=) c.*740T>C (n.*740T>C) c.986T>C n.2137T>C n.1606T>C n.2026T>C n.2145T>C n.1921T>C c.1770T>C (p.Gly590=) c.1479T>C (p.Gly493=) c.1539T>C (p.Gly513=) n.1193T>C c.1785T>C (p.Gly595=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.64804523A>T | CA475163577 | MEN1 | c.1659T>A (p.Gly553=) c.*952T>A (n.*952T>A) c.1635T>A (p.Gly545=) c.1644T>A (p.Gly548=) c.*740T>A (n.*740T>A) c.986T>A n.2137T>A n.1606T>A n.2026T>A n.2145T>A n.1921T>A c.1770T>A (p.Gly590=) c.1479T>A (p.Gly493=) c.1539T>A (p.Gly513=) n.1193T>A c.1785T>A (p.Gly595=) | dbSNP |
11 | g.64804524C>A | CA381177915 | MEN1 | c.1658G>T (p.Gly553Val) c.*951G>T (n.*951G>T) c.1634G>T (p.Gly545Val) c.1643G>T (p.Gly548Val) c.*739G>T (n.*739G>T) c.985G>T n.2136G>T n.1605G>T n.2025G>T n.2144G>T n.1920G>T c.1769G>T (p.Gly590Val) c.1478G>T (p.Gly493Val) c.1538G>T (p.Gly513Val) n.1192G>T c.1784G>T (p.Gly595Val) | ClinVar dbSNP |
11 | g.64804524C>G | CA381177917 | MEN1 | c.1658G>C (p.Gly553Ala) c.*951G>C (n.*951G>C) c.1634G>C (p.Gly545Ala) c.1643G>C (p.Gly548Ala) c.*739G>C (n.*739G>C) c.985G>C n.2136G>C n.1605G>C n.2025G>C n.2144G>C n.1920G>C c.1769G>C (p.Gly590Ala) c.1478G>C (p.Gly493Ala) c.1538G>C (p.Gly513Ala) n.1192G>C c.1784G>C (p.Gly595Ala) | dbSNP |
11 | g.64804524C>T | CA381177918 | MEN1 | c.1658G>A (p.Gly553Asp) c.*951G>A (n.*951G>A) c.1634G>A (p.Gly545Asp) c.1643G>A (p.Gly548Asp) c.*739G>A (n.*739G>A) c.985G>A n.2136G>A n.1605G>A n.2025G>A n.2144G>A n.1920G>A c.1769G>A (p.Gly590Asp) c.1478G>A (p.Gly493Asp) c.1538G>A (p.Gly513Asp) n.1192G>A c.1784G>A (p.Gly595Asp) | |
11 | g.64804525C>A | CA381177924 | MEN1 | c.1657G>T (p.Gly553Cys) c.*950G>T (n.*950G>T) c.1633G>T (p.Gly545Cys) c.1642G>T (p.Gly548Cys) c.*738G>T (n.*738G>T) c.984G>T n.2135G>T n.1604G>T n.2024G>T n.2143G>T n.1919G>T c.1768G>T (p.Gly590Cys) c.1477G>T (p.Gly493Cys) c.1537G>T (p.Gly513Cys) n.1191G>T c.1783G>T (p.Gly595Cys) | ClinVar |
11 | g.64804525C>G | CA381177920 | MEN1 | c.1657G>C (p.Gly553Arg) c.*950G>C (n.*950G>C) c.1633G>C (p.Gly545Arg) c.1642G>C (p.Gly548Arg) c.*738G>C (n.*738G>C) c.984G>C n.2135G>C n.1604G>C n.2024G>C n.2143G>C n.1919G>C c.1768G>C (p.Gly590Arg) c.1477G>C (p.Gly493Arg) c.1537G>C (p.Gly513Arg) n.1191G>C c.1783G>C (p.Gly595Arg) | |
11 | g.64804525C>T | CA381177922 | MEN1 | c.1657G>A (p.Gly553Ser) c.*950G>A (n.*950G>A) c.1633G>A (p.Gly545Ser) c.1642G>A (p.Gly548Ser) c.*738G>A (n.*738G>A) c.984G>A n.2135G>A n.1604G>A n.2024G>A n.2143G>A n.1919G>A c.1768G>A (p.Gly590Ser) c.1477G>A (p.Gly493Ser) c.1537G>A (p.Gly513Ser) n.1191G>A c.1783G>A (p.Gly595Ser) | |
11 | g.64804526C>A | CA381177926 | MEN1 | c.1656G>T (p.Glu552Asp) c.*949G>T (n.*949G>T) c.1632G>T (p.Glu544Asp) c.1641G>T (p.Glu547Asp) c.*737G>T (n.*737G>T) c.983G>T n.2134G>T n.1603G>T n.2023G>T n.2142G>T n.1918G>T c.1767G>T (p.Glu589Asp) c.1476G>T (p.Glu492Asp) c.1536G>T (p.Glu512Asp) n.1190G>T c.1782G>T (p.Glu594Asp) | |
11 | g.64804526C= | CA1978917411 | MEN1 | c.1656G= (p.Glu552=) c.*949G= (n.*949G=) c.1632G= (p.Glu544=) c.1641G= (p.Glu547=) c.*737G= (n.*737G=) c.983G= n.2134G= n.1603G= n.2023G= n.2142G= n.1918G= c.1767G= (p.Glu589=) c.1476G= (p.Glu492=) c.1536G= (p.Glu512=) n.1190G= c.1782G= (p.Glu594=) |