Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000492.4:c.[744-33GATT(7);869+11C=;3909C=] | 6 | 0.273 | ||
NM_000492.4:c.[744-33GATT(7);869+11C>T;3909C=] | 4 | 0.182 | ||
NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C>T] | 12 | 0.545 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
219700.G.15.2 | Lebanon | Chronic lung disease; Exocrine pancreatic insufficiency | 50 Egyptian CF patients |