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 |
|---|---|---|---|---|---|
| 18 | g.55254317_55254955delinsTTGCACAACCTTGTAAATACACTAAAACACTTGAATTGTACACCTGAAATGGGCTCATCGTATGTTAAGTGAATTATATCTCAATAAAGCTGATTTTTTAAAAAACAGCAACAATAGTATCTATATCTGAAATTCTAACTCTATATGATAACTATAGAGTCTATAAATTTCATCACTTACCATGAGTGAATGTCTGTTGGCTGAAAGAAGGCCGGTTCCATACCCTGAGCCCAGACCACCCATGGCTCCATTATGAGAAGGTCCAATGATTCCATGCATGTCCCCATGACCACCAGGCATAGCTGTGGATGGGCCCACTGCATGGTTCCGGAGAACATGAATAGCATCATCCAGTCTTTCTAAACGATCTTCAATTCGGCTTTGCTGTTGGTTAACAAATGATGTAAAATTTGATTTAGTTCAAAAGGGGTGCCTAAATTATACAAGTAAAATTTTAGTCGACAAAAAACACACTGTGTTTCTAAATACATGTTTCCAATAAAATGTATTTCCTTAAAACAATAATACAAATAGTGTTGTTTCCAGAAAACTGGTAGAACGTGTTAATGTTAAAATTATAGTGTTATTTTTCATGAACAAACTAAATTCAATAATTATTCCAGGACATTATAACATACA | CA2305016120 | TCF4 | c.1147-255_1350+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.664-255_867+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA n.827-255_1030+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1075-255_1278+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.*855-255_*1058+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.757-255_960+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.*1037-255_*1240+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.499-255_702+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA n.1214-255_1417+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA n.841-255_1044+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.745-255_948+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1174-255_1377+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.*758-255_*961+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1453-255_1656+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.667-255_870+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1021-255_1224+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.934-255_1137+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA n.1238-255_1441+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1165-255_1368+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.895-255_1098+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.967-255_1170+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1138-255_1341+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1072-255_1275+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA n.182-255_385+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1144-255_1347+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.937-255_1140+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1450-255_1653+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1141-255_1344+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1069-255_1272+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1018-255_1221+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.931-255_1134+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.754-255_957+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.910-255_1113+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA c.1078-255_1281+180delinsTGTATGTTATAATGTCCTGGAATAATTATTGAATTTAGTTTGTTCATGAAAAATAACACTATAATTTTAACATTAACACGTTCTACCAGTTTTCTGGAAACAACACTATTTGTATTATTGTTTTAAGGAAATACATTTTATTGGAAACATGTATTTAGAAACACAGTGTGTTTTTTGTCGACTAAAATTTTACTTGTATAATTTAGGCACCCCTTTTGAACTAAATCAAATTTTACATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACTGGATGATGCTATTCATGTTCTCCGGAACCATGCAGTGGGCCCATCCACAGCTATGCCTGGTGGTCATGGGGACATGCATGGAATCATTGGACCTTCTCATAATGGAGCCATGGGTGGTCTGGGCTCAGGGTATGGAACCGGCCTTCTTTCAGCCAACAGACATTCACTCATGGTAAGTGATGAAATTTATAGACTCTATAGTTATCATATAGAGTTAGAATTTCAGATATAGATACTATTGTTGCTGTTTTTTAAAAAATCAGCTTTATTGAGATATAATTCACTTAACATACGATGAGCCCATTTCAGGTGTACAATTCAAGTGTTTTAGTGTATTTACAAGGTTGTGCAA | |
| 18 | g.55254320_55254957del | CA915951556 | TCF4 | c.1147-255_1350+179del c.664-255_867+179del n.827-255_1030+179del c.1075-255_1278+179del c.*855-255_*1058+179del c.757-255_960+179del c.*1037-255_*1240+179del c.499-255_702+179del n.1214-255_1417+179del n.841-255_1044+179del c.745-255_948+179del c.1174-255_1377+179del c.*758-255_*961+179del c.1453-255_1656+179del c.667-255_870+179del c.1021-255_1224+179del c.934-255_1137+179del n.1238-255_1441+179del c.1165-255_1368+179del c.895-255_1098+179del c.967-255_1170+179del c.1138-255_1341+179del c.1072-255_1275+179del n.182-255_385+179del c.1144-255_1347+179del c.937-255_1140+179del c.1450-255_1653+179del c.1141-255_1344+179del c.1069-255_1272+179del c.1018-255_1221+179del c.931-255_1134+179del c.754-255_957+179del c.910-255_1113+179del c.1078-255_1281+179del | ClinVar dbSNP |
| 18 | g.55254601del | CA2573054682 | TCF4 | c.1249del (p.Asp417ThrfsTer?) c.766del (p.Asp256ThrfsTer?) n.929del c.1177del (p.Asp393ThrfsTer?) c.*957del (n.*957del) c.859del (p.Asp287ThrfsTer?) c.*1139del (n.*1139del) c.601del (p.Asp201ThrfsTer?) n.1316del n.943del c.847del c.1276del (p.Asp426ThrfsTer?) c.*860del (n.*860del) c.1555del (p.Asp519ThrfsTer?) c.769del (p.Asp257ThrfsTer?) c.1123del (p.Asp375ThrfsTer?) c.1036del (p.Asp346ThrfsTer?) n.1340del n.762del c.1267del (p.Asp423ThrfsTer?) c.997del (p.Asp333ThrfsTer?) c.1069del (p.Asp357ThrfsTer?) c.1240del (p.Asp414ThrfsTer?) c.1174del (p.Asp392ThrfsTer?) n.284del c.1246del (p.Asp416ThrfsTer?) c.1039del (p.Asp347ThrfsTer?) c.1552del (p.Asp518ThrfsTer?) c.1243del (p.Asp415ThrfsTer?) c.1171del (p.Asp391ThrfsTer?) c.1120del (p.Asp374ThrfsTer?) c.1033del (p.Asp345ThrfsTer?) c.856del (p.Asp286ThrfsTer?) c.1012del (p.Asp338ThrfsTer?) c.1180del (p.Asp394ThrfsTer?) | ClinVar dbSNP |
| 18 | g.55254599C>A | CA504007090 | TCF4 | c.1248G>T (p.Gly416=) c.765G>T (p.Gly255=) n.928G>T c.1176G>T (p.Gly392=) c.*956G>T (n.*956G>T) c.858G>T (p.Gly286=) c.*1138G>T (n.*1138G>T) c.600G>T (p.Gly200=) n.1315G>T n.942G>T c.846G>T c.1275G>T (p.Gly425=) c.*859G>T (n.*859G>T) c.1554G>T (p.Gly518=) c.768G>T (p.Gly256=) c.1122G>T (p.Gly374=) c.1035G>T (p.Gly345=) n.1339G>T n.761G>T c.1266G>T (p.Gly422=) c.996G>T (p.Gly332=) c.1068G>T (p.Gly356=) c.1239G>T (p.Gly413=) c.1173G>T (p.Gly391=) n.283G>T c.1245G>T (p.Gly415=) c.1038G>T (p.Gly346=) c.1551G>T (p.Gly517=) c.1242G>T (p.Gly414=) c.1170G>T (p.Gly390=) c.1119G>T (p.Gly373=) c.1032G>T (p.Gly344=) c.855G>T (p.Gly285=) c.1011G>T (p.Gly337=) c.1179G>T (p.Gly393=) | |
| 18 | g.55254599C= | CA2305016261 | TCF4 | c.1248G= (p.Gly416=) c.765G= (p.Gly255=) n.928G= c.1176G= (p.Gly392=) c.*956G= (n.*956G=) c.858G= (p.Gly286=) c.*1138G= (n.*1138G=) c.600G= (p.Gly200=) n.1315G= n.942G= c.846G= c.1275G= (p.Gly425=) c.*859G= (n.*859G=) c.1554G= (p.Gly518=) c.768G= (p.Gly256=) c.1122G= (p.Gly374=) c.1035G= (p.Gly345=) n.1339G= n.761G= c.1266G= (p.Gly422=) c.996G= (p.Gly332=) c.1068G= (p.Gly356=) c.1239G= (p.Gly413=) c.1173G= (p.Gly391=) n.283G= c.1245G= (p.Gly415=) c.1038G= (p.Gly346=) c.1551G= (p.Gly517=) c.1242G= (p.Gly414=) c.1170G= (p.Gly390=) c.1119G= (p.Gly373=) c.1032G= (p.Gly344=) c.855G= (p.Gly285=) c.1011G= (p.Gly337=) c.1179G= (p.Gly393=) | |
| 18 | g.55254599C>G | CA504007091 | TCF4 | c.1248G>C (p.Gly416=) c.765G>C (p.Gly255=) n.928G>C c.1176G>C (p.Gly392=) c.*956G>C (n.*956G>C) c.858G>C (p.Gly286=) c.*1138G>C (n.*1138G>C) c.600G>C (p.Gly200=) n.1315G>C n.942G>C c.846G>C c.1275G>C (p.Gly425=) c.*859G>C (n.*859G>C) c.1554G>C (p.Gly518=) c.768G>C (p.Gly256=) c.1122G>C (p.Gly374=) c.1035G>C (p.Gly345=) n.1339G>C n.761G>C c.1266G>C (p.Gly422=) c.996G>C (p.Gly332=) c.1068G>C (p.Gly356=) c.1239G>C (p.Gly413=) c.1173G>C (p.Gly391=) n.283G>C c.1245G>C (p.Gly415=) c.1038G>C (p.Gly346=) c.1551G>C (p.Gly517=) c.1242G>C (p.Gly414=) c.1170G>C (p.Gly390=) c.1119G>C (p.Gly373=) c.1032G>C (p.Gly344=) c.855G>C (p.Gly285=) c.1011G>C (p.Gly337=) c.1179G>C (p.Gly393=) | |
| 18 | g.55254599C>T | CA504007092 | TCF4 | c.1248G>A (p.Gly416=) c.765G>A (p.Gly255=) n.928G>A c.1176G>A (p.Gly392=) c.*956G>A (n.*956G>A) c.858G>A (p.Gly286=) c.*1138G>A (n.*1138G>A) c.600G>A (p.Gly200=) n.1315G>A n.942G>A c.846G>A c.1275G>A (p.Gly425=) c.*859G>A (n.*859G>A) c.1554G>A (p.Gly518=) c.768G>A (p.Gly256=) c.1122G>A (p.Gly374=) c.1035G>A (p.Gly345=) n.1339G>A n.761G>A c.1266G>A (p.Gly422=) c.996G>A (p.Gly332=) c.1068G>A (p.Gly356=) c.1239G>A (p.Gly413=) c.1173G>A (p.Gly391=) n.283G>A c.1245G>A (p.Gly415=) c.1038G>A (p.Gly346=) c.1551G>A (p.Gly517=) c.1242G>A (p.Gly414=) c.1170G>A (p.Gly390=) c.1119G>A (p.Gly373=) c.1032G>A (p.Gly344=) c.855G>A (p.Gly285=) c.1011G>A (p.Gly337=) c.1179G>A (p.Gly393=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.55254600C>A | CA402533556 | TCF4 | c.1247G>T (p.Gly416Val) c.764G>T (p.Gly255Val) n.927G>T c.1175G>T (p.Gly392Val) c.*955G>T (n.*955G>T) c.857G>T (p.Gly286Val) c.*1137G>T (n.*1137G>T) c.599G>T (p.Gly200Val) n.1314G>T n.941G>T c.845G>T c.1274G>T (p.Gly425Val) c.*858G>T (n.*858G>T) c.1553G>T (p.Gly518Val) c.767G>T (p.Gly256Val) c.1121G>T (p.Gly374Val) c.1034G>T (p.Gly345Val) n.1338G>T n.760G>T c.1265G>T (p.Gly422Val) c.995G>T (p.Gly332Val) c.1067G>T (p.Gly356Val) c.1238G>T (p.Gly413Val) c.1172G>T (p.Gly391Val) n.282G>T c.1244G>T (p.Gly415Val) c.1037G>T (p.Gly346Val) c.1550G>T (p.Gly517Val) c.1241G>T (p.Gly414Val) c.1169G>T (p.Gly390Val) c.1118G>T (p.Gly373Val) c.1031G>T (p.Gly344Val) c.854G>T (p.Gly285Val) c.1010G>T (p.Gly337Val) c.1178G>T (p.Gly393Val) | |
| 18 | g.55254600C>G | CA402533558 | TCF4 | c.1247G>C (p.Gly416Ala) c.764G>C (p.Gly255Ala) n.927G>C c.1175G>C (p.Gly392Ala) c.*955G>C (n.*955G>C) c.857G>C (p.Gly286Ala) c.*1137G>C (n.*1137G>C) c.599G>C (p.Gly200Ala) n.1314G>C n.941G>C c.845G>C c.1274G>C (p.Gly425Ala) c.*858G>C (n.*858G>C) c.1553G>C (p.Gly518Ala) c.767G>C (p.Gly256Ala) c.1121G>C (p.Gly374Ala) c.1034G>C (p.Gly345Ala) n.1338G>C n.760G>C c.1265G>C (p.Gly422Ala) c.995G>C (p.Gly332Ala) c.1067G>C (p.Gly356Ala) c.1238G>C (p.Gly413Ala) c.1172G>C (p.Gly391Ala) n.282G>C c.1244G>C (p.Gly415Ala) c.1037G>C (p.Gly346Ala) c.1550G>C (p.Gly517Ala) c.1241G>C (p.Gly414Ala) c.1169G>C (p.Gly390Ala) c.1118G>C (p.Gly373Ala) c.1031G>C (p.Gly344Ala) c.854G>C (p.Gly285Ala) c.1010G>C (p.Gly337Ala) c.1178G>C (p.Gly393Ala) | |
| 18 | g.55254600C>T | CA402533560 | TCF4 | c.1247G>A (p.Gly416Glu) c.764G>A (p.Gly255Glu) n.927G>A c.1175G>A (p.Gly392Glu) c.*955G>A (n.*955G>A) c.857G>A (p.Gly286Glu) c.*1137G>A (n.*1137G>A) c.599G>A (p.Gly200Glu) n.1314G>A n.941G>A c.845G>A c.1274G>A (p.Gly425Glu) c.*858G>A (n.*858G>A) c.1553G>A (p.Gly518Glu) c.767G>A (p.Gly256Glu) c.1121G>A (p.Gly374Glu) c.1034G>A (p.Gly345Glu) n.1338G>A n.760G>A c.1265G>A (p.Gly422Glu) c.995G>A (p.Gly332Glu) c.1067G>A (p.Gly356Glu) c.1238G>A (p.Gly413Glu) c.1172G>A (p.Gly391Glu) n.282G>A c.1244G>A (p.Gly415Glu) c.1037G>A (p.Gly346Glu) c.1550G>A (p.Gly517Glu) c.1241G>A (p.Gly414Glu) c.1169G>A (p.Gly390Glu) c.1118G>A (p.Gly373Glu) c.1031G>A (p.Gly344Glu) c.854G>A (p.Gly285Glu) c.1010G>A (p.Gly337Glu) c.1178G>A (p.Gly393Glu) | |
| 18 | g.55254601C>A | CA402533562 | TCF4 | c.1246G>T (p.Gly416Trp) c.763G>T (p.Gly255Trp) n.926G>T c.1174G>T (p.Gly392Trp) c.*954G>T (n.*954G>T) c.856G>T (p.Gly286Trp) c.*1136G>T (n.*1136G>T) c.598G>T (p.Gly200Trp) n.1313G>T n.940G>T c.844G>T c.1273G>T (p.Gly425Trp) c.*857G>T (n.*857G>T) c.1552G>T (p.Gly518Trp) c.766G>T (p.Gly256Trp) c.1120G>T (p.Gly374Trp) c.1033G>T (p.Gly345Trp) n.1337G>T n.759G>T c.1264G>T (p.Gly422Trp) c.994G>T (p.Gly332Trp) c.1066G>T (p.Gly356Trp) c.1237G>T (p.Gly413Trp) c.1171G>T (p.Gly391Trp) n.281G>T c.1243G>T (p.Gly415Trp) c.1036G>T (p.Gly346Trp) c.1549G>T (p.Gly517Trp) c.1240G>T (p.Gly414Trp) c.1168G>T (p.Gly390Trp) c.1117G>T (p.Gly373Trp) c.1030G>T (p.Gly344Trp) c.853G>T (p.Gly285Trp) c.1009G>T (p.Gly337Trp) c.1177G>T (p.Gly393Trp) | |
| 18 | g.55254601C>G | CA402533563 | TCF4 | c.1246G>C (p.Gly416Arg) c.763G>C (p.Gly255Arg) n.926G>C c.1174G>C (p.Gly392Arg) c.*954G>C (n.*954G>C) c.856G>C (p.Gly286Arg) c.*1136G>C (n.*1136G>C) c.598G>C (p.Gly200Arg) n.1313G>C n.940G>C c.844G>C c.1273G>C (p.Gly425Arg) c.*857G>C (n.*857G>C) c.1552G>C (p.Gly518Arg) c.766G>C (p.Gly256Arg) c.1120G>C (p.Gly374Arg) c.1033G>C (p.Gly345Arg) n.1337G>C n.759G>C c.1264G>C (p.Gly422Arg) c.994G>C (p.Gly332Arg) c.1066G>C (p.Gly356Arg) c.1237G>C (p.Gly413Arg) c.1171G>C (p.Gly391Arg) n.281G>C c.1243G>C (p.Gly415Arg) c.1036G>C (p.Gly346Arg) c.1549G>C (p.Gly517Arg) c.1240G>C (p.Gly414Arg) c.1168G>C (p.Gly390Arg) c.1117G>C (p.Gly373Arg) c.1030G>C (p.Gly344Arg) c.853G>C (p.Gly285Arg) c.1009G>C (p.Gly337Arg) c.1177G>C (p.Gly393Arg) | |
| 18 | g.55254601C>T | CA402533565 | TCF4 | c.1246G>A (p.Gly416Arg) c.763G>A (p.Gly255Arg) n.926G>A c.1174G>A (p.Gly392Arg) c.*954G>A (n.*954G>A) c.856G>A (p.Gly286Arg) c.*1136G>A (n.*1136G>A) c.598G>A (p.Gly200Arg) n.1313G>A n.940G>A c.844G>A c.1273G>A (p.Gly425Arg) c.*857G>A (n.*857G>A) c.1552G>A (p.Gly518Arg) c.766G>A (p.Gly256Arg) c.1120G>A (p.Gly374Arg) c.1033G>A (p.Gly345Arg) n.1337G>A n.759G>A c.1264G>A (p.Gly422Arg) c.994G>A (p.Gly332Arg) c.1066G>A (p.Gly356Arg) c.1237G>A (p.Gly413Arg) c.1171G>A (p.Gly391Arg) n.281G>A c.1243G>A (p.Gly415Arg) c.1036G>A (p.Gly346Arg) c.1549G>A (p.Gly517Arg) c.1240G>A (p.Gly414Arg) c.1168G>A (p.Gly390Arg) c.1117G>A (p.Gly373Arg) c.1030G>A (p.Gly344Arg) c.853G>A (p.Gly285Arg) c.1009G>A (p.Gly337Arg) c.1177G>A (p.Gly393Arg) | gnomAD v4 |
| 18 | g.55254602_55254609del | CA2739265772 | TCF4 | c.1239_1246del (p.Gly416AlafsTer9) c.756_763del (p.Gly255AlafsTer9) n.919_926del c.1167_1174del (p.Gly392AlafsTer9) c.*947_*954del (n.*947_*954del) c.849_856del (p.Gly286AlafsTer9) c.*1129_*1136del (n.*1129_*1136del) c.591_598del (p.Gly200AlafsTer9) n.1306_1313del n.933_940del c.837_844del c.1266_1273del (p.Gly425AlafsTer9) c.*850_*857del (n.*850_*857del) c.1545_1552del (p.Gly518AlafsTer9) c.759_766del (p.Gly256AlafsTer9) c.1113_1120del (p.Gly374AlafsTer9) c.1026_1033del (p.Gly345AlafsTer9) n.1330_1337del n.752_759del c.1257_1264del (p.Gly422AlafsTer9) c.987_994del (p.Gly332AlafsTer9) c.1059_1066del (p.Gly356AlafsTer9) c.1230_1237del (p.Gly413AlafsTer9) c.1164_1171del (p.Gly391AlafsTer9) n.274_281del c.1236_1243del (p.Gly415AlafsTer9) c.1029_1036del (p.Gly346AlafsTer9) c.1542_1549del (p.Gly517AlafsTer9) c.1233_1240del (p.Gly414AlafsTer9) c.1161_1168del (p.Gly390AlafsTer9) c.1110_1117del (p.Gly373AlafsTer9) c.1023_1030del (p.Gly344AlafsTer9) c.846_853del (p.Gly285AlafsTer9) c.1002_1009del (p.Gly337AlafsTer9) c.1170_1177del (p.Gly393AlafsTer9) | ClinVar |
| 18 | g.55254602A= | CA2305016263 | TCF4 | c.1245T= (p.His415=) c.762T= (p.His254=) n.925T= c.1173T= (p.His391=) c.*953T= (n.*953T=) c.855T= (p.His285=) c.*1135T= (n.*1135T=) c.597T= (p.His199=) n.1312T= n.939T= c.843T= c.1272T= (p.His424=) c.*856T= (n.*856T=) c.1551T= (p.His517=) c.765T= (p.His255=) c.1119T= (p.His373=) c.1032T= (p.His344=) n.1336T= n.758T= c.1263T= (p.His421=) c.993T= (p.His331=) c.1065T= (p.His355=) c.1236T= (p.His412=) c.1170T= (p.His390=) n.280T= c.1242T= (p.His414=) c.1035T= (p.His345=) c.1548T= (p.His516=) c.1239T= (p.His413=) c.1167T= (p.His389=) c.1116T= (p.His372=) c.1029T= (p.His343=) c.852T= (p.His284=) c.1008T= (p.His336=) c.1176T= (p.His392=) | |
| 18 | g.55254602A>C | CA402533570 | TCF4 | c.1245T>G (p.His415Gln) c.762T>G (p.His254Gln) n.925T>G c.1173T>G (p.His391Gln) c.*953T>G (n.*953T>G) c.855T>G (p.His285Gln) c.*1135T>G (n.*1135T>G) c.597T>G (p.His199Gln) n.1312T>G n.939T>G c.843T>G c.1272T>G (p.His424Gln) c.*856T>G (n.*856T>G) c.1551T>G (p.His517Gln) c.765T>G (p.His255Gln) c.1119T>G (p.His373Gln) c.1032T>G (p.His344Gln) n.1336T>G n.758T>G c.1263T>G (p.His421Gln) c.993T>G (p.His331Gln) c.1065T>G (p.His355Gln) c.1236T>G (p.His412Gln) c.1170T>G (p.His390Gln) n.280T>G c.1242T>G (p.His414Gln) c.1035T>G (p.His345Gln) c.1548T>G (p.His516Gln) c.1239T>G (p.His413Gln) c.1167T>G (p.His389Gln) c.1116T>G (p.His372Gln) c.1029T>G (p.His343Gln) c.852T>G (p.His284Gln) c.1008T>G (p.His336Gln) c.1176T>G (p.His392Gln) | |
| 18 | g.55254602A>G | CA240473 | TCF4 | c.1245T>C (p.His415=) c.762T>C (p.His254=) n.925T>C c.1173T>C (p.His391=) c.*953T>C (n.*953T>C) c.855T>C (p.His285=) c.*1135T>C (n.*1135T>C) c.597T>C (p.His199=) n.1312T>C n.939T>C c.843T>C c.1272T>C (p.His424=) c.*856T>C (n.*856T>C) c.1551T>C (p.His517=) c.765T>C (p.His255=) c.1119T>C (p.His373=) c.1032T>C (p.His344=) n.1336T>C n.758T>C c.1263T>C (p.His421=) c.993T>C (p.His331=) c.1065T>C (p.His355=) c.1236T>C (p.His412=) c.1170T>C (p.His390=) n.280T>C c.1242T>C (p.His414=) c.1035T>C (p.His345=) c.1548T>C (p.His516=) c.1239T>C (p.His413=) c.1167T>C (p.His389=) c.1116T>C (p.His372=) c.1029T>C (p.His343=) c.852T>C (p.His284=) c.1008T>C (p.His336=) c.1176T>C (p.His392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.55254602A>T | CA402533568 | TCF4 | c.1245T>A (p.His415Gln) c.762T>A (p.His254Gln) n.925T>A c.1173T>A (p.His391Gln) c.*953T>A (n.*953T>A) c.855T>A (p.His285Gln) c.*1135T>A (n.*1135T>A) c.597T>A (p.His199Gln) n.1312T>A n.939T>A c.843T>A c.1272T>A (p.His424Gln) c.*856T>A (n.*856T>A) c.1551T>A (p.His517Gln) c.765T>A (p.His255Gln) c.1119T>A (p.His373Gln) c.1032T>A (p.His344Gln) n.1336T>A n.758T>A c.1263T>A (p.His421Gln) c.993T>A (p.His331Gln) c.1065T>A (p.His355Gln) c.1236T>A (p.His412Gln) c.1170T>A (p.His390Gln) n.280T>A c.1242T>A (p.His414Gln) c.1035T>A (p.His345Gln) c.1548T>A (p.His516Gln) c.1239T>A (p.His413Gln) c.1167T>A (p.His389Gln) c.1116T>A (p.His372Gln) c.1029T>A (p.His343Gln) c.852T>A (p.His284Gln) c.1008T>A (p.His336Gln) c.1176T>A (p.His392Gln) | |
| 18 | g.55254602_55254603delinsAT | CA2305016262 | TCF4 | c.1244_1245delinsAT (p.His415=) c.761_762delinsAT (p.His254=) n.924_925delinsAT c.1172_1173delinsAT (p.His391=) c.*952_*953delinsAT (n.*952_*953delinsAT) c.854_855delinsAT (p.His285=) c.*1134_*1135delinsAT (n.*1134_*1135delinsAT) c.596_597delinsAT (p.His199=) n.1311_1312delinsAT n.938_939delinsAT c.842_843delinsAT c.1271_1272delinsAT (p.His424=) c.*855_*856delinsAT (n.*855_*856delinsAT) c.1550_1551delinsAT (p.His517=) c.764_765delinsAT (p.His255=) c.1118_1119delinsAT (p.His373=) c.1031_1032delinsAT (p.His344=) n.1335_1336delinsAT n.757_758delinsAT c.1262_1263delinsAT (p.His421=) c.992_993delinsAT (p.His331=) c.1064_1065delinsAT (p.His355=) c.1235_1236delinsAT (p.His412=) c.1169_1170delinsAT (p.His390=) n.279_280delinsAT c.1241_1242delinsAT (p.His414=) c.1034_1035delinsAT (p.His345=) c.1547_1548delinsAT (p.His516=) c.1238_1239delinsAT (p.His413=) c.1166_1167delinsAT (p.His389=) c.1115_1116delinsAT (p.His372=) c.1028_1029delinsAT (p.His343=) c.851_852delinsAT (p.His284=) c.1007_1008delinsAT (p.His336=) c.1175_1176delinsAT (p.His392=) | |
| 18 | g.55254603del | CA915951557 | TCF4 | c.1244del (p.His415LeufsTer?) c.761del (p.His254LeufsTer?) n.924del c.1172del (p.His391LeufsTer?) c.*952del (n.*952del) c.854del (p.His285LeufsTer?) c.*1134del (n.*1134del) c.596del (p.His199LeufsTer?) n.1311del n.938del c.842del c.1271del (p.His424LeufsTer?) c.*855del (n.*855del) c.1550del (p.His517LeufsTer?) c.764del (p.His255LeufsTer?) c.1118del (p.His373LeufsTer?) c.1031del (p.His344LeufsTer?) n.1335del n.757del c.1262del (p.His421LeufsTer?) c.992del (p.His331LeufsTer?) c.1064del (p.His355LeufsTer?) c.1235del (p.His412LeufsTer?) c.1169del (p.His390LeufsTer?) n.279del c.1241del (p.His414LeufsTer?) c.1034del (p.His345LeufsTer?) c.1547del (p.His516LeufsTer?) c.1238del (p.His413LeufsTer?) c.1166del (p.His389LeufsTer?) c.1115del (p.His372LeufsTer?) c.1028del (p.His343LeufsTer?) c.851del (p.His284LeufsTer?) c.1007del (p.His336LeufsTer?) c.1175del (p.His392LeufsTer?) | ClinVar dbSNP |
| 18 | g.55254603T>A | CA402533572 | TCF4 | c.1244A>T (p.His415Leu) c.761A>T (p.His254Leu) n.924A>T c.1172A>T (p.His391Leu) c.*952A>T (n.*952A>T) c.854A>T (p.His285Leu) c.*1134A>T (n.*1134A>T) c.596A>T (p.His199Leu) n.1311A>T n.938A>T c.842A>T c.1271A>T (p.His424Leu) c.*855A>T (n.*855A>T) c.1550A>T (p.His517Leu) c.764A>T (p.His255Leu) c.1118A>T (p.His373Leu) c.1031A>T (p.His344Leu) n.1335A>T n.757A>T c.1262A>T (p.His421Leu) c.992A>T (p.His331Leu) c.1064A>T (p.His355Leu) c.1235A>T (p.His412Leu) c.1169A>T (p.His390Leu) n.279A>T c.1241A>T (p.His414Leu) c.1034A>T (p.His345Leu) c.1547A>T (p.His516Leu) c.1238A>T (p.His413Leu) c.1166A>T (p.His389Leu) c.1115A>T (p.His372Leu) c.1028A>T (p.His343Leu) c.851A>T (p.His284Leu) c.1007A>T (p.His336Leu) c.1175A>T (p.His392Leu) | gnomAD v4 |
| 18 | g.55254603T>C | CA402533574 | TCF4 | c.1244A>G (p.His415Arg) c.761A>G (p.His254Arg) n.924A>G c.1172A>G (p.His391Arg) c.*952A>G (n.*952A>G) c.854A>G (p.His285Arg) c.*1134A>G (n.*1134A>G) c.596A>G (p.His199Arg) n.1311A>G n.938A>G c.842A>G c.1271A>G (p.His424Arg) c.*855A>G (n.*855A>G) c.1550A>G (p.His517Arg) c.764A>G (p.His255Arg) c.1118A>G (p.His373Arg) c.1031A>G (p.His344Arg) n.1335A>G n.757A>G c.1262A>G (p.His421Arg) c.992A>G (p.His331Arg) c.1064A>G (p.His355Arg) c.1235A>G (p.His412Arg) c.1169A>G (p.His390Arg) n.279A>G c.1241A>G (p.His414Arg) c.1034A>G (p.His345Arg) c.1547A>G (p.His516Arg) c.1238A>G (p.His413Arg) c.1166A>G (p.His389Arg) c.1115A>G (p.His372Arg) c.1028A>G (p.His343Arg) c.851A>G (p.His284Arg) c.1007A>G (p.His336Arg) c.1175A>G (p.His392Arg) | |
| 18 | g.55254603T>G | CA402533575 | TCF4 | c.1244A>C (p.His415Pro) c.761A>C (p.His254Pro) n.924A>C c.1172A>C (p.His391Pro) c.*952A>C (n.*952A>C) c.854A>C (p.His285Pro) c.*1134A>C (n.*1134A>C) c.596A>C (p.His199Pro) n.1311A>C n.938A>C c.842A>C c.1271A>C (p.His424Pro) c.*855A>C (n.*855A>C) c.1550A>C (p.His517Pro) c.764A>C (p.His255Pro) c.1118A>C (p.His373Pro) c.1031A>C (p.His344Pro) n.1335A>C n.757A>C c.1262A>C (p.His421Pro) c.992A>C (p.His331Pro) c.1064A>C (p.His355Pro) c.1235A>C (p.His412Pro) c.1169A>C (p.His390Pro) n.279A>C c.1241A>C (p.His414Pro) c.1034A>C (p.His345Pro) c.1547A>C (p.His516Pro) c.1238A>C (p.His413Pro) c.1166A>C (p.His389Pro) c.1115A>C (p.His372Pro) c.1028A>C (p.His343Pro) c.851A>C (p.His284Pro) c.1007A>C (p.His336Pro) c.1175A>C (p.His392Pro) | |
| 18 | g.55254604G>A | CA402533577 | TCF4 | c.1243C>T (p.His415Tyr) c.760C>T (p.His254Tyr) n.923C>T c.1171C>T (p.His391Tyr) c.*951C>T (n.*951C>T) c.853C>T (p.His285Tyr) c.*1133C>T (n.*1133C>T) c.595C>T (p.His199Tyr) n.1310C>T n.937C>T c.841C>T c.1270C>T (p.His424Tyr) c.*854C>T (n.*854C>T) c.1549C>T (p.His517Tyr) c.763C>T (p.His255Tyr) c.1117C>T (p.His373Tyr) c.1030C>T (p.His344Tyr) n.1334C>T n.756C>T c.1261C>T (p.His421Tyr) c.991C>T (p.His331Tyr) c.1063C>T (p.His355Tyr) c.1234C>T (p.His412Tyr) c.1168C>T (p.His390Tyr) n.278C>T c.1240C>T (p.His414Tyr) c.1033C>T (p.His345Tyr) c.1546C>T (p.His516Tyr) c.1237C>T (p.His413Tyr) c.1165C>T (p.His389Tyr) c.1114C>T (p.His372Tyr) c.1027C>T (p.His343Tyr) c.850C>T (p.His284Tyr) c.1006C>T (p.His336Tyr) c.1174C>T (p.His392Tyr) | |
| 18 | g.55254604G>C | CA402533578 | TCF4 | c.1243C>G (p.His415Asp) c.760C>G (p.His254Asp) n.923C>G c.1171C>G (p.His391Asp) c.*951C>G (n.*951C>G) c.853C>G (p.His285Asp) c.*1133C>G (n.*1133C>G) c.595C>G (p.His199Asp) n.1310C>G n.937C>G c.841C>G c.1270C>G (p.His424Asp) c.*854C>G (n.*854C>G) c.1549C>G (p.His517Asp) c.763C>G (p.His255Asp) c.1117C>G (p.His373Asp) c.1030C>G (p.His344Asp) n.1334C>G n.756C>G c.1261C>G (p.His421Asp) c.991C>G (p.His331Asp) c.1063C>G (p.His355Asp) c.1234C>G (p.His412Asp) c.1168C>G (p.His390Asp) n.278C>G c.1240C>G (p.His414Asp) c.1033C>G (p.His345Asp) c.1546C>G (p.His516Asp) c.1237C>G (p.His413Asp) c.1165C>G (p.His389Asp) c.1114C>G (p.His372Asp) c.1027C>G (p.His343Asp) c.850C>G (p.His284Asp) c.1006C>G (p.His336Asp) c.1174C>G (p.His392Asp) | |
| 18 | g.55254604G>T | CA402533580 | TCF4 | c.1243C>A (p.His415Asn) c.760C>A (p.His254Asn) n.923C>A c.1171C>A (p.His391Asn) c.*951C>A (n.*951C>A) c.853C>A (p.His285Asn) c.*1133C>A (n.*1133C>A) c.595C>A (p.His199Asn) n.1310C>A n.937C>A c.841C>A c.1270C>A (p.His424Asn) c.*854C>A (n.*854C>A) c.1549C>A (p.His517Asn) c.763C>A (p.His255Asn) c.1117C>A (p.His373Asn) c.1030C>A (p.His344Asn) n.1334C>A n.756C>A c.1261C>A (p.His421Asn) c.991C>A (p.His331Asn) c.1063C>A (p.His355Asn) c.1234C>A (p.His412Asn) c.1168C>A (p.His390Asn) n.278C>A c.1240C>A (p.His414Asn) c.1033C>A (p.His345Asn) c.1546C>A (p.His516Asn) c.1237C>A (p.His413Asn) c.1165C>A (p.His389Asn) c.1114C>A (p.His372Asn) c.1027C>A (p.His343Asn) c.850C>A (p.His284Asn) c.1006C>A (p.His336Asn) c.1174C>A (p.His392Asn) | |
| 18 | g.55254605A= | CA2305016264 | TCF4 | c.1242T= (p.Gly414=) c.759T= (p.Gly253=) n.922T= c.1170T= (p.Gly390=) c.*950T= (n.*950T=) c.852T= (p.Gly284=) c.*1132T= (n.*1132T=) c.594T= (p.Gly198=) n.1309T= n.936T= c.840T= c.1269T= (p.Gly423=) c.*853T= (n.*853T=) c.1548T= (p.Gly516=) c.762T= (p.Gly254=) c.1116T= (p.Gly372=) c.1029T= (p.Gly343=) n.1333T= n.755T= c.1260T= (p.Gly420=) c.990T= (p.Gly330=) c.1062T= (p.Gly354=) c.1233T= (p.Gly411=) c.1167T= (p.Gly389=) n.277T= c.1239T= (p.Gly413=) c.1032T= (p.Gly344=) c.1545T= (p.Gly515=) c.1236T= (p.Gly412=) c.1164T= (p.Gly388=) c.1113T= (p.Gly371=) c.1026T= (p.Gly342=) c.849T= (p.Gly283=) c.1005T= (p.Gly335=) c.1173T= (p.Gly391=) | |
| 18 | g.55254605A>C | CA504007094 | TCF4 | c.1242T>G (p.Gly414=) c.759T>G (p.Gly253=) n.922T>G c.1170T>G (p.Gly390=) c.*950T>G (n.*950T>G) c.852T>G (p.Gly284=) c.*1132T>G (n.*1132T>G) c.594T>G (p.Gly198=) n.1309T>G n.936T>G c.840T>G c.1269T>G (p.Gly423=) c.*853T>G (n.*853T>G) c.1548T>G (p.Gly516=) c.762T>G (p.Gly254=) c.1116T>G (p.Gly372=) c.1029T>G (p.Gly343=) n.1333T>G n.755T>G c.1260T>G (p.Gly420=) c.990T>G (p.Gly330=) c.1062T>G (p.Gly354=) c.1233T>G (p.Gly411=) c.1167T>G (p.Gly389=) n.277T>G c.1239T>G (p.Gly413=) c.1032T>G (p.Gly344=) c.1545T>G (p.Gly515=) c.1236T>G (p.Gly412=) c.1164T>G (p.Gly388=) c.1113T>G (p.Gly371=) c.1026T>G (p.Gly342=) c.849T>G (p.Gly283=) c.1005T>G (p.Gly335=) c.1173T>G (p.Gly391=) | gnomAD v4 |
| 18 | g.55254605A>G | CA8970242 | TCF4 | c.1242T>C (p.Gly414=) c.759T>C (p.Gly253=) n.922T>C c.1170T>C (p.Gly390=) c.*950T>C (n.*950T>C) c.852T>C (p.Gly284=) c.*1132T>C (n.*1132T>C) c.594T>C (p.Gly198=) n.1309T>C n.936T>C c.840T>C c.1269T>C (p.Gly423=) c.*853T>C (n.*853T>C) c.1548T>C (p.Gly516=) c.762T>C (p.Gly254=) c.1116T>C (p.Gly372=) c.1029T>C (p.Gly343=) n.1333T>C n.755T>C c.1260T>C (p.Gly420=) c.990T>C (p.Gly330=) c.1062T>C (p.Gly354=) c.1233T>C (p.Gly411=) c.1167T>C (p.Gly389=) n.277T>C c.1239T>C (p.Gly413=) c.1032T>C (p.Gly344=) c.1545T>C (p.Gly515=) c.1236T>C (p.Gly412=) c.1164T>C (p.Gly388=) c.1113T>C (p.Gly371=) c.1026T>C (p.Gly342=) c.849T>C (p.Gly283=) c.1005T>C (p.Gly335=) c.1173T>C (p.Gly391=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.55254605A>T | CA504007093 | TCF4 | c.1242T>A (p.Gly414=) c.759T>A (p.Gly253=) n.922T>A c.1170T>A (p.Gly390=) c.*950T>A (n.*950T>A) c.852T>A (p.Gly284=) c.*1132T>A (n.*1132T>A) c.594T>A (p.Gly198=) n.1309T>A n.936T>A c.840T>A c.1269T>A (p.Gly423=) c.*853T>A (n.*853T>A) c.1548T>A (p.Gly516=) c.762T>A (p.Gly254=) c.1116T>A (p.Gly372=) c.1029T>A (p.Gly343=) n.1333T>A n.755T>A c.1260T>A (p.Gly420=) c.990T>A (p.Gly330=) c.1062T>A (p.Gly354=) c.1233T>A (p.Gly411=) c.1167T>A (p.Gly389=) n.277T>A c.1239T>A (p.Gly413=) c.1032T>A (p.Gly344=) c.1545T>A (p.Gly515=) c.1236T>A (p.Gly412=) c.1164T>A (p.Gly388=) c.1113T>A (p.Gly371=) c.1026T>A (p.Gly342=) c.849T>A (p.Gly283=) c.1005T>A (p.Gly335=) c.1173T>A (p.Gly391=) | |
| 18 | g.55254606C>A | CA402533584 | TCF4 | c.1241G>T (p.Gly414Val) c.758G>T (p.Gly253Val) n.921G>T c.1169G>T (p.Gly390Val) c.*949G>T (n.*949G>T) c.851G>T (p.Gly284Val) c.*1131G>T (n.*1131G>T) c.593G>T (p.Gly198Val) n.1308G>T n.935G>T c.839G>T c.1268G>T (p.Gly423Val) c.*852G>T (n.*852G>T) c.1547G>T (p.Gly516Val) c.761G>T (p.Gly254Val) c.1115G>T (p.Gly372Val) c.1028G>T (p.Gly343Val) n.1332G>T n.754G>T c.1259G>T (p.Gly420Val) c.989G>T (p.Gly330Val) c.1061G>T (p.Gly354Val) c.1232G>T (p.Gly411Val) c.1166G>T (p.Gly389Val) n.276G>T c.1238G>T (p.Gly413Val) c.1031G>T (p.Gly344Val) c.1544G>T (p.Gly515Val) c.1235G>T (p.Gly412Val) c.1163G>T (p.Gly388Val) c.1112G>T (p.Gly371Val) c.1025G>T (p.Gly342Val) c.848G>T (p.Gly283Val) c.1004G>T (p.Gly335Val) c.1172G>T (p.Gly391Val) | |
| 18 | g.55254606C>G | CA402533586 | TCF4 | c.1241G>C (p.Gly414Ala) c.758G>C (p.Gly253Ala) n.921G>C c.1169G>C (p.Gly390Ala) c.*949G>C (n.*949G>C) c.851G>C (p.Gly284Ala) c.*1131G>C (n.*1131G>C) c.593G>C (p.Gly198Ala) n.1308G>C n.935G>C c.839G>C c.1268G>C (p.Gly423Ala) c.*852G>C (n.*852G>C) c.1547G>C (p.Gly516Ala) c.761G>C (p.Gly254Ala) c.1115G>C (p.Gly372Ala) c.1028G>C (p.Gly343Ala) n.1332G>C n.754G>C c.1259G>C (p.Gly420Ala) c.989G>C (p.Gly330Ala) c.1061G>C (p.Gly354Ala) c.1232G>C (p.Gly411Ala) c.1166G>C (p.Gly389Ala) n.276G>C c.1238G>C (p.Gly413Ala) c.1031G>C (p.Gly344Ala) c.1544G>C (p.Gly515Ala) c.1235G>C (p.Gly412Ala) c.1163G>C (p.Gly388Ala) c.1112G>C (p.Gly371Ala) c.1025G>C (p.Gly342Ala) c.848G>C (p.Gly283Ala) c.1004G>C (p.Gly335Ala) c.1172G>C (p.Gly391Ala) | |
| 18 | g.55254606C>T | CA402533588 | TCF4 | c.1241G>A (p.Gly414Asp) c.758G>A (p.Gly253Asp) n.921G>A c.1169G>A (p.Gly390Asp) c.*949G>A (n.*949G>A) c.851G>A (p.Gly284Asp) c.*1131G>A (n.*1131G>A) c.593G>A (p.Gly198Asp) n.1308G>A n.935G>A c.839G>A c.1268G>A (p.Gly423Asp) c.*852G>A (n.*852G>A) c.1547G>A (p.Gly516Asp) c.761G>A (p.Gly254Asp) c.1115G>A (p.Gly372Asp) c.1028G>A (p.Gly343Asp) n.1332G>A n.754G>A c.1259G>A (p.Gly420Asp) c.989G>A (p.Gly330Asp) c.1061G>A (p.Gly354Asp) c.1232G>A (p.Gly411Asp) c.1166G>A (p.Gly389Asp) n.276G>A c.1238G>A (p.Gly413Asp) c.1031G>A (p.Gly344Asp) c.1544G>A (p.Gly515Asp) c.1235G>A (p.Gly412Asp) c.1163G>A (p.Gly388Asp) c.1112G>A (p.Gly371Asp) c.1025G>A (p.Gly342Asp) c.848G>A (p.Gly283Asp) c.1004G>A (p.Gly335Asp) c.1172G>A (p.Gly391Asp) | |
| 18 | g.55254607del | CA2695223150 | TCF4 | c.1241del (p.Gly414ValfsTer?) c.758del (p.Gly253ValfsTer?) n.921del c.1169del (p.Gly390ValfsTer?) c.*949del (n.*949del) c.851del (p.Gly284ValfsTer?) c.*1131del (n.*1131del) c.593del (p.Gly198ValfsTer?) n.1308del n.935del c.839del c.1268del (p.Gly423ValfsTer?) c.*852del (n.*852del) c.1547del (p.Gly516ValfsTer?) c.761del (p.Gly254ValfsTer?) c.1115del (p.Gly372ValfsTer?) c.1028del (p.Gly343ValfsTer?) n.1332del n.754del c.1259del (p.Gly420ValfsTer?) c.989del (p.Gly330ValfsTer?) c.1061del (p.Gly354ValfsTer?) c.1232del (p.Gly411ValfsTer?) c.1166del (p.Gly389ValfsTer?) n.276del c.1238del (p.Gly413ValfsTer?) c.1031del (p.Gly344ValfsTer?) c.1544del (p.Gly515ValfsTer?) c.1235del (p.Gly412ValfsTer?) c.1163del (p.Gly388ValfsTer?) c.1112del (p.Gly371ValfsTer?) c.1025del (p.Gly342ValfsTer?) c.848del (p.Gly283ValfsTer?) c.1004del (p.Gly335ValfsTer?) c.1172del (p.Gly391ValfsTer?) | |
| 18 | g.55254607C>A | CA402533590 | TCF4 | c.1240G>T (p.Gly414Cys) c.757G>T (p.Gly253Cys) n.920G>T c.1168G>T (p.Gly390Cys) c.*948G>T (n.*948G>T) c.850G>T (p.Gly284Cys) c.*1130G>T (n.*1130G>T) c.592G>T (p.Gly198Cys) n.1307G>T n.934G>T c.838G>T c.1267G>T (p.Gly423Cys) c.*851G>T (n.*851G>T) c.1546G>T (p.Gly516Cys) c.760G>T (p.Gly254Cys) c.1114G>T (p.Gly372Cys) c.1027G>T (p.Gly343Cys) n.1331G>T n.753G>T c.1258G>T (p.Gly420Cys) c.988G>T (p.Gly330Cys) c.1060G>T (p.Gly354Cys) c.1231G>T (p.Gly411Cys) c.1165G>T (p.Gly389Cys) n.275G>T c.1237G>T (p.Gly413Cys) c.1030G>T (p.Gly344Cys) c.1543G>T (p.Gly515Cys) c.1234G>T (p.Gly412Cys) c.1162G>T (p.Gly388Cys) c.1111G>T (p.Gly371Cys) c.1024G>T (p.Gly342Cys) c.847G>T (p.Gly283Cys) c.1003G>T (p.Gly335Cys) c.1171G>T (p.Gly391Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.55254607C= | CA2305016265 | TCF4 | c.1240G= (p.Gly414=) c.757G= (p.Gly253=) n.920G= c.1168G= (p.Gly390=) c.*948G= (n.*948G=) c.850G= (p.Gly284=) c.*1130G= (n.*1130G=) c.592G= (p.Gly198=) n.1307G= n.934G= c.838G= c.1267G= (p.Gly423=) c.*851G= (n.*851G=) c.1546G= (p.Gly516=) c.760G= (p.Gly254=) c.1114G= (p.Gly372=) c.1027G= (p.Gly343=) n.1331G= n.753G= c.1258G= (p.Gly420=) c.988G= (p.Gly330=) c.1060G= (p.Gly354=) c.1231G= (p.Gly411=) c.1165G= (p.Gly389=) n.275G= c.1237G= (p.Gly413=) c.1030G= (p.Gly344=) c.1543G= (p.Gly515=) c.1234G= (p.Gly412=) c.1162G= (p.Gly388=) c.1111G= (p.Gly371=) c.1024G= (p.Gly342=) c.847G= (p.Gly283=) c.1003G= (p.Gly335=) c.1171G= (p.Gly391=) | |
| 18 | g.55254607C>G | CA402533592 | TCF4 | c.1240G>C (p.Gly414Arg) c.757G>C (p.Gly253Arg) n.920G>C c.1168G>C (p.Gly390Arg) c.*948G>C (n.*948G>C) c.850G>C (p.Gly284Arg) c.*1130G>C (n.*1130G>C) c.592G>C (p.Gly198Arg) n.1307G>C n.934G>C c.838G>C c.1267G>C (p.Gly423Arg) c.*851G>C (n.*851G>C) c.1546G>C (p.Gly516Arg) c.760G>C (p.Gly254Arg) c.1114G>C (p.Gly372Arg) c.1027G>C (p.Gly343Arg) n.1331G>C n.753G>C c.1258G>C (p.Gly420Arg) c.988G>C (p.Gly330Arg) c.1060G>C (p.Gly354Arg) c.1231G>C (p.Gly411Arg) c.1165G>C (p.Gly389Arg) n.275G>C c.1237G>C (p.Gly413Arg) c.1030G>C (p.Gly344Arg) c.1543G>C (p.Gly515Arg) c.1234G>C (p.Gly412Arg) c.1162G>C (p.Gly388Arg) c.1111G>C (p.Gly371Arg) c.1024G>C (p.Gly342Arg) c.847G>C (p.Gly283Arg) c.1003G>C (p.Gly335Arg) c.1171G>C (p.Gly391Arg) | |
| 18 | g.55254607C>T | CA402533593 | TCF4 | c.1240G>A (p.Gly414Ser) c.757G>A (p.Gly253Ser) n.920G>A c.1168G>A (p.Gly390Ser) c.*948G>A (n.*948G>A) c.850G>A (p.Gly284Ser) c.*1130G>A (n.*1130G>A) c.592G>A (p.Gly198Ser) n.1307G>A n.934G>A c.838G>A c.1267G>A (p.Gly423Ser) c.*851G>A (n.*851G>A) c.1546G>A (p.Gly516Ser) c.760G>A (p.Gly254Ser) c.1114G>A (p.Gly372Ser) c.1027G>A (p.Gly343Ser) n.1331G>A n.753G>A c.1258G>A (p.Gly420Ser) c.988G>A (p.Gly330Ser) c.1060G>A (p.Gly354Ser) c.1231G>A (p.Gly411Ser) c.1165G>A (p.Gly389Ser) n.275G>A c.1237G>A (p.Gly413Ser) c.1030G>A (p.Gly344Ser) c.1543G>A (p.Gly515Ser) c.1234G>A (p.Gly412Ser) c.1162G>A (p.Gly388Ser) c.1111G>A (p.Gly371Ser) c.1024G>A (p.Gly342Ser) c.847G>A (p.Gly283Ser) c.1003G>A (p.Gly335Ser) c.1171G>A (p.Gly391Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.55254608A>C | CA504007097 | TCF4 | c.1239T>G (p.Gly413=) c.756T>G (p.Gly252=) n.919T>G c.1167T>G (p.Gly389=) c.*947T>G (n.*947T>G) c.849T>G (p.Gly283=) c.*1129T>G (n.*1129T>G) c.591T>G (p.Gly197=) n.1306T>G n.933T>G c.837T>G c.1266T>G (p.Gly422=) c.*850T>G (n.*850T>G) c.1545T>G (p.Gly515=) c.759T>G (p.Gly253=) c.1113T>G (p.Gly371=) c.1026T>G (p.Gly342=) n.1330T>G n.752T>G c.1257T>G (p.Gly419=) c.987T>G (p.Gly329=) c.1059T>G (p.Gly353=) c.1230T>G (p.Gly410=) c.1164T>G (p.Gly388=) n.274T>G c.1236T>G (p.Gly412=) c.1029T>G (p.Gly343=) c.1542T>G (p.Gly514=) c.1233T>G (p.Gly411=) c.1161T>G (p.Gly387=) c.1110T>G (p.Gly370=) c.1023T>G (p.Gly341=) c.846T>G (p.Gly282=) c.1002T>G (p.Gly334=) c.1170T>G (p.Gly390=) | |
| 18 | g.55254608A>G | CA504007096 | TCF4 | c.1239T>C (p.Gly413=) c.756T>C (p.Gly252=) n.919T>C c.1167T>C (p.Gly389=) c.*947T>C (n.*947T>C) c.849T>C (p.Gly283=) c.*1129T>C (n.*1129T>C) c.591T>C (p.Gly197=) n.1306T>C n.933T>C c.837T>C c.1266T>C (p.Gly422=) c.*850T>C (n.*850T>C) c.1545T>C (p.Gly515=) c.759T>C (p.Gly253=) c.1113T>C (p.Gly371=) c.1026T>C (p.Gly342=) n.1330T>C n.752T>C c.1257T>C (p.Gly419=) c.987T>C (p.Gly329=) c.1059T>C (p.Gly353=) c.1230T>C (p.Gly410=) c.1164T>C (p.Gly388=) n.274T>C c.1236T>C (p.Gly412=) c.1029T>C (p.Gly343=) c.1542T>C (p.Gly514=) c.1233T>C (p.Gly411=) c.1161T>C (p.Gly387=) c.1110T>C (p.Gly370=) c.1023T>C (p.Gly341=) c.846T>C (p.Gly282=) c.1002T>C (p.Gly334=) c.1170T>C (p.Gly390=) | |
| 18 | g.55254608A>T | CA504007095 | TCF4 | c.1239T>A (p.Gly413=) c.756T>A (p.Gly252=) n.919T>A c.1167T>A (p.Gly389=) c.*947T>A (n.*947T>A) c.849T>A (p.Gly283=) c.*1129T>A (n.*1129T>A) c.591T>A (p.Gly197=) n.1306T>A n.933T>A c.837T>A c.1266T>A (p.Gly422=) c.*850T>A (n.*850T>A) c.1545T>A (p.Gly515=) c.759T>A (p.Gly253=) c.1113T>A (p.Gly371=) c.1026T>A (p.Gly342=) n.1330T>A n.752T>A c.1257T>A (p.Gly419=) c.987T>A (p.Gly329=) c.1059T>A (p.Gly353=) c.1230T>A (p.Gly410=) c.1164T>A (p.Gly388=) n.274T>A c.1236T>A (p.Gly412=) c.1029T>A (p.Gly343=) c.1542T>A (p.Gly514=) c.1233T>A (p.Gly411=) c.1161T>A (p.Gly387=) c.1110T>A (p.Gly370=) c.1023T>A (p.Gly341=) c.846T>A (p.Gly282=) c.1002T>A (p.Gly334=) c.1170T>A (p.Gly390=) | |
| 18 | g.55254608dup | CA658658758 | TCF4 | c.1239dup (p.Gly414TrpfsTer14) c.756dup (p.Gly253TrpfsTer14) n.919dup c.1167dup (p.Gly390TrpfsTer14) c.*947dup (n.*947dup) c.849dup (p.Gly284TrpfsTer14) c.*1129dup (n.*1129dup) c.591dup (p.Gly198TrpfsTer14) n.1306dup n.933dup c.837dup c.1266dup (p.Gly423TrpfsTer14) c.*850dup (n.*850dup) c.1545dup (p.Gly516TrpfsTer14) c.759dup (p.Gly254TrpfsTer14) c.1113dup (p.Gly372TrpfsTer14) c.1026dup (p.Gly343TrpfsTer14) n.1330dup n.752dup c.1257dup (p.Gly420TrpfsTer14) c.987dup (p.Gly330TrpfsTer14) c.1059dup (p.Gly354TrpfsTer14) c.1230dup (p.Gly411TrpfsTer14) c.1164dup (p.Gly389TrpfsTer14) n.274dup c.1236dup (p.Gly413TrpfsTer14) c.1029dup (p.Gly344TrpfsTer14) c.1542dup (p.Gly515TrpfsTer14) c.1233dup (p.Gly412TrpfsTer14) c.1161dup (p.Gly388TrpfsTer14) c.1110dup (p.Gly371TrpfsTer14) c.1023dup (p.Gly342TrpfsTer14) c.846dup (p.Gly283TrpfsTer14) c.1002dup (p.Gly335TrpfsTer14) c.1170dup (p.Gly391TrpfsTer14) | ClinVar dbSNP |
| 18 | g.55254609C>A | CA402533599 | TCF4 | c.1238G>T (p.Gly413Val) c.755G>T (p.Gly252Val) n.918G>T c.1166G>T (p.Gly389Val) c.*946G>T (n.*946G>T) c.848G>T (p.Gly283Val) c.*1128G>T (n.*1128G>T) c.590G>T (p.Gly197Val) n.1305G>T n.932G>T c.836G>T c.1265G>T (p.Gly422Val) c.*849G>T (n.*849G>T) c.1544G>T (p.Gly515Val) c.758G>T (p.Gly253Val) c.1112G>T (p.Gly371Val) c.1025G>T (p.Gly342Val) n.1329G>T n.751G>T c.1256G>T (p.Gly419Val) c.986G>T (p.Gly329Val) c.1058G>T (p.Gly353Val) c.1229G>T (p.Gly410Val) c.1163G>T (p.Gly388Val) n.273G>T c.*381G>T (n.*381G>T) c.1235G>T (p.Gly412Val) c.1028G>T (p.Gly343Val) c.1541G>T (p.Gly514Val) c.1232G>T (p.Gly411Val) c.1160G>T (p.Gly387Val) c.1109G>T (p.Gly370Val) c.1022G>T (p.Gly341Val) c.845G>T (p.Gly282Val) c.1001G>T (p.Gly334Val) c.1169G>T (p.Gly390Val) | |
| 18 | g.55254609C>G | CA402533597 | TCF4 | c.1238G>C (p.Gly413Ala) c.755G>C (p.Gly252Ala) n.918G>C c.1166G>C (p.Gly389Ala) c.*946G>C (n.*946G>C) c.848G>C (p.Gly283Ala) c.*1128G>C (n.*1128G>C) c.590G>C (p.Gly197Ala) n.1305G>C n.932G>C c.836G>C c.1265G>C (p.Gly422Ala) c.*849G>C (n.*849G>C) c.1544G>C (p.Gly515Ala) c.758G>C (p.Gly253Ala) c.1112G>C (p.Gly371Ala) c.1025G>C (p.Gly342Ala) n.1329G>C n.751G>C c.1256G>C (p.Gly419Ala) c.986G>C (p.Gly329Ala) c.1058G>C (p.Gly353Ala) c.1229G>C (p.Gly410Ala) c.1163G>C (p.Gly388Ala) n.273G>C c.*381G>C (n.*381G>C) c.1235G>C (p.Gly412Ala) c.1028G>C (p.Gly343Ala) c.1541G>C (p.Gly514Ala) c.1232G>C (p.Gly411Ala) c.1160G>C (p.Gly387Ala) c.1109G>C (p.Gly370Ala) c.1022G>C (p.Gly341Ala) c.845G>C (p.Gly282Ala) c.1001G>C (p.Gly334Ala) c.1169G>C (p.Gly390Ala) | |
| 18 | g.55254609C>T | CA402533596 | TCF4 | c.1238G>A (p.Gly413Asp) c.755G>A (p.Gly252Asp) n.918G>A c.1166G>A (p.Gly389Asp) c.*946G>A (n.*946G>A) c.848G>A (p.Gly283Asp) c.*1128G>A (n.*1128G>A) c.590G>A (p.Gly197Asp) n.1305G>A n.932G>A c.836G>A c.1265G>A (p.Gly422Asp) c.*849G>A (n.*849G>A) c.1544G>A (p.Gly515Asp) c.758G>A (p.Gly253Asp) c.1112G>A (p.Gly371Asp) c.1025G>A (p.Gly342Asp) n.1329G>A n.751G>A c.1256G>A (p.Gly419Asp) c.986G>A (p.Gly329Asp) c.1058G>A (p.Gly353Asp) c.1229G>A (p.Gly410Asp) c.1163G>A (p.Gly388Asp) n.273G>A c.*381G>A (n.*381G>A) c.1235G>A (p.Gly412Asp) c.1028G>A (p.Gly343Asp) c.1541G>A (p.Gly514Asp) c.1232G>A (p.Gly411Asp) c.1160G>A (p.Gly387Asp) c.1109G>A (p.Gly370Asp) c.1022G>A (p.Gly341Asp) c.845G>A (p.Gly282Asp) c.1001G>A (p.Gly334Asp) c.1169G>A (p.Gly390Asp) | |
| 18 | g.55254610del | CA2504182762 | TCF4 | c.1238del (p.Gly413ValfsTer?) c.755del (p.Gly252ValfsTer?) n.918del c.1166del (p.Gly389ValfsTer?) c.*946del (n.*946del) c.848del (p.Gly283ValfsTer?) c.*1128del (n.*1128del) c.590del (p.Gly197ValfsTer?) n.1305del n.932del c.836del c.1265del (p.Gly422ValfsTer?) c.*849del (n.*849del) c.1544del (p.Gly515ValfsTer?) c.758del (p.Gly253ValfsTer?) c.1112del (p.Gly371ValfsTer?) c.1025del (p.Gly342ValfsTer?) n.1329del n.751del c.1256del (p.Gly419ValfsTer?) c.986del (p.Gly329ValfsTer?) c.1058del (p.Gly353ValfsTer?) c.1229del (p.Gly410ValfsTer?) c.1163del (p.Gly388ValfsTer?) n.273del c.*381del (n.*381del) c.1235del (p.Gly412ValfsTer?) c.1028del (p.Gly343ValfsTer?) c.1541del (p.Gly514ValfsTer?) c.1232del (p.Gly411ValfsTer?) c.1160del (p.Gly387ValfsTer?) c.1109del (p.Gly370ValfsTer?) c.1022del (p.Gly341ValfsTer?) c.845del (p.Gly282ValfsTer?) c.1001del (p.Gly334ValfsTer?) c.1169del (p.Gly390ValfsTer?) | ClinVar |
| 18 | g.55254610C>A | CA402533602 | TCF4 | c.1237G>T (p.Gly413Cys) c.754G>T (p.Gly252Cys) n.917G>T c.1165G>T (p.Gly389Cys) c.*945G>T (n.*945G>T) c.847G>T (p.Gly283Cys) c.*1127G>T (n.*1127G>T) c.589G>T (p.Gly197Cys) n.1304G>T n.931G>T c.835G>T c.1264G>T (p.Gly422Cys) c.*848G>T (n.*848G>T) c.1543G>T (p.Gly515Cys) c.757G>T (p.Gly253Cys) c.1111G>T (p.Gly371Cys) c.1024G>T (p.Gly342Cys) n.1328G>T n.750G>T c.1255G>T (p.Gly419Cys) c.985G>T (p.Gly329Cys) c.1057G>T (p.Gly353Cys) c.1228G>T (p.Gly410Cys) c.1162G>T (p.Gly388Cys) n.272G>T c.*380G>T (n.*380G>T) c.1234G>T (p.Gly412Cys) c.1027G>T (p.Gly343Cys) c.1540G>T (p.Gly514Cys) c.1231G>T (p.Gly411Cys) c.1159G>T (p.Gly387Cys) c.1108G>T (p.Gly370Cys) c.1021G>T (p.Gly341Cys) c.844G>T (p.Gly282Cys) c.1000G>T (p.Gly334Cys) c.1168G>T (p.Gly390Cys) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 18 | g.55254610C= | CA2305016266 | TCF4 | c.1237G= (p.Gly413=) c.754G= (p.Gly252=) n.917G= c.1165G= (p.Gly389=) c.*945G= (n.*945G=) c.847G= (p.Gly283=) c.*1127G= (n.*1127G=) c.589G= (p.Gly197=) n.1304G= n.931G= c.835G= c.1264G= (p.Gly422=) c.*848G= (n.*848G=) c.1543G= (p.Gly515=) c.757G= (p.Gly253=) c.1111G= (p.Gly371=) c.1024G= (p.Gly342=) n.1328G= n.750G= c.1255G= (p.Gly419=) c.985G= (p.Gly329=) c.1057G= (p.Gly353=) c.1228G= (p.Gly410=) c.1162G= (p.Gly388=) n.272G= c.*380G= (n.*380G=) c.1234G= (p.Gly412=) c.1027G= (p.Gly343=) c.1540G= (p.Gly514=) c.1231G= (p.Gly411=) c.1159G= (p.Gly387=) c.1108G= (p.Gly370=) c.1021G= (p.Gly341=) c.844G= (p.Gly282=) c.1000G= (p.Gly334=) c.1168G= (p.Gly390=) | |
| 18 | g.55254610C>G | CA8970243 | TCF4 | c.1237G>C (p.Gly413Arg) c.754G>C (p.Gly252Arg) n.917G>C c.1165G>C (p.Gly389Arg) c.*945G>C (n.*945G>C) c.847G>C (p.Gly283Arg) c.*1127G>C (n.*1127G>C) c.589G>C (p.Gly197Arg) n.1304G>C n.931G>C c.835G>C c.1264G>C (p.Gly422Arg) c.*848G>C (n.*848G>C) c.1543G>C (p.Gly515Arg) c.757G>C (p.Gly253Arg) c.1111G>C (p.Gly371Arg) c.1024G>C (p.Gly342Arg) n.1328G>C n.750G>C c.1255G>C (p.Gly419Arg) c.985G>C (p.Gly329Arg) c.1057G>C (p.Gly353Arg) c.1228G>C (p.Gly410Arg) c.1162G>C (p.Gly388Arg) n.272G>C c.*380G>C (n.*380G>C) c.1234G>C (p.Gly412Arg) c.1027G>C (p.Gly343Arg) c.1540G>C (p.Gly514Arg) c.1231G>C (p.Gly411Arg) c.1159G>C (p.Gly387Arg) c.1108G>C (p.Gly370Arg) c.1021G>C (p.Gly341Arg) c.844G>C (p.Gly282Arg) c.1000G>C (p.Gly334Arg) c.1168G>C (p.Gly390Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.55254610C>T | CA402533604 | TCF4 | c.1237G>A (p.Gly413Ser) c.754G>A (p.Gly252Ser) n.917G>A c.1165G>A (p.Gly389Ser) c.*945G>A (n.*945G>A) c.847G>A (p.Gly283Ser) c.*1127G>A (n.*1127G>A) c.589G>A (p.Gly197Ser) n.1304G>A n.931G>A c.835G>A c.1264G>A (p.Gly422Ser) c.*848G>A (n.*848G>A) c.1543G>A (p.Gly515Ser) c.757G>A (p.Gly253Ser) c.1111G>A (p.Gly371Ser) c.1024G>A (p.Gly342Ser) n.1328G>A n.750G>A c.1255G>A (p.Gly419Ser) c.985G>A (p.Gly329Ser) c.1057G>A (p.Gly353Ser) c.1228G>A (p.Gly410Ser) c.1162G>A (p.Gly388Ser) n.272G>A c.*380G>A (n.*380G>A) c.1234G>A (p.Gly412Ser) c.1027G>A (p.Gly343Ser) c.1540G>A (p.Gly514Ser) c.1231G>A (p.Gly411Ser) c.1159G>A (p.Gly387Ser) c.1108G>A (p.Gly370Ser) c.1021G>A (p.Gly341Ser) c.844G>A (p.Gly282Ser) c.1000G>A (p.Gly334Ser) c.1168G>A (p.Gly390Ser) |