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Gene Mutations
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| Records Return:
(8)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| TSC2 | 191092 | 613254 | 16p13.3 | 2468insT | | TUBEROUS SCLEROSIS, TYPE 2 | 3 |
| TSC2 | 191092 | 613254 | 16p13.3 | 2743-1G>A | | TUBEROUS SCLEROSIS, TYPE 2 | 2 |
| TSC2 | 191092 | 613254 | 16p13.3 | ARG1743GLN | | TUBEROUS SCLEROSIS, TYPE 2 | 3 |
| TSC2 | 191092 | 613254 | 16p13.3 | ARG611TRP | | TUBEROUS SCLEROSIS, TYPE 2 | 1 |
| TSC2 | 191092 | 613254 | 16p13.3 | c.3693_3696delGTCT | | TUBEROUS SCLEROSIS, TYPE 2 | 6 |
| TSC2 | 191092 | 613254 | 16p13.3 | DEL EX1-14 | | TUBEROUS SCLEROSIS, TYPE 2 | 2 |
| TSC2 | 191092 | 613254 | 16p13.3 | GLN1503PRO | 0011 | TUBEROUS SCLEROSIS, TYPE 2 | 20 |
| TSC2 | 191092 | 613254 | 16p13.3 | HIS522THR | | TUBEROUS SCLEROSIS, TYPE 2 | 3 |
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