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Note that a single record in the following table may represent multiple people with that particular variant who are in the same family.
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Information last updated on 2007-06-12 14:12:04
* variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.
| ID | DNA Allelic Variant | DNA Allelic Variant Type | Protein Allelic Variant | Protein Allelic Variant Type | Domain | Population Studied | Allele Frequency | Reference |
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| 11815 | c.481G>A | Substitution | p.Ala161Thr | Substitution | 1A | Caucasian | - | Winter et al, 2004 |
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