Gene Mutations
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Records Return:
(5)
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Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
APC | 611731 | 175100 | 5q21-q22 | 2-BP DEL, CODON 1538 | 0030 | GARDNER SYNDROME | 10 |
APC | 611731 | 175100 | 5q21-q22 | 3149delC | | ADENOMATOUS POLYPOSIS COLI | 2 |
APC | 611731 | 175100 | 5q21-q22 | ARG216TER | | ADENOMATOUS POLYPOSIS COLI | 2 |
APC | 611731 | 276300 | 5q21-q22 | GLN215TER | 0022 | TURCOT SYNDROME WITH MEDULLOBLASTOMA | 2 |
APC | 611731 | 175100 | 5q21-q22 | GLN541TER | 0014 | ADENOMATOUS POLYPOSIS COLI | 16 |
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