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Gene Mutations
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(18)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ADA | 608958 | 102700 | 20q13.11 | ALA215THR | 0015 | ADA DEFICIENCY, PARTIAL | 2 |
| ADA | 608958 | 102700 | 20q13.11 | ALA329VAL | 0006 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 4 |
| ADA | 608958 | 102700 | 20q13.11 | ARG101GLN | 0003 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 2 |
| ADA | 608958 | 102700 | 20q13.11 | ARG101TRP | 0002 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 2 |
| ADA | 608958 | 102700 | 20q13.11 | ARG149GLN | 0011 | ADA DEFICIENCY, PARTIAL | 1 |
| ADA | 608958 | 102700 | 20q13.11 | ARG156CYS | 0018 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 2 |
| ADA | 608958 | 102700 | 20q13.11 | ARG211CYS | 0014 | ADA DEFICIENCY, PARTIAL | 2 |
| ADA | 608958 | 102700 | 20q13.11 | ARG211HIS | 0004 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 4 |
| ADA | 608958 | 102700 | 20q13.11 | ARG76TRP | 0010 | ADA DEFICIENCY, PARTIAL | 5 |
| ADA | 608958 | 102700 | 20q13.11 | GLY216ARG | 0016 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 6 |
| ADA | 608958 | 102700 | 20q13.11 | IVS1DS, G>C, +1 | 0024 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 2 |
| ADA | 608958 | 102700 | 20q13.11 | IVS3AS, A>G, -2, EX4DEL | 0017 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 2 |
| ADA | 608958 | 102700 | 20q13.11 | LEU107PRO | 0013 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 4 |
| ADA | 608958 | 102700 | 20q13.11 | LEU304ARG | 0005 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 2 |
| ADA | 608958 | 102700 | 20q13.11 | PRO274LEU | 0012 | ADA DEFICIENCY, PARTIAL | 1 |
| ADA | 608958 | 102700 | 20q13.11 | PRO297GLN | 0009 | ADA DEFICIENCY, PARTIAL | 2 |
| ADA | 608958 | 102700 | 20q13.11 | SER291LEU | 0019 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 1 |
| ADA | 608958 | 102700 | 20q13.11 | THR233ILE | 0028 | ADA DEFICIENCY, PARTIAL | 2 |
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