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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CYP21A2 | 613815 | 201910 | 6p21.33 | 30-KB DEL | 0011 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE | 3 |
| CYP21A2 | 613815 | 201910 | 6p21.33 | DEL | | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE | 2 |
| CYP21A2 | 613815 | 201910 | 6p21.33 | ILE172ASN | 0001 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE | 1 |
| CYP21A2 | 613815 | 201910 | 6p21.33 | IVS2AS,A/C>G,-13 | 0006 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 3 |
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