Family Identifier
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Your identification code that uniquely represents the family that has the variant.
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ADPKD Gene
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Designate gene where variant is located (PKD1 or PKD2)
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Exon/Intron Location
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Location of the variant (e.g. Ex2 or IVS4)
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Codon
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Amino acid location
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cDNA Change
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Please provide description in accordance with HGVS nomenclature guidelines.
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Amino Acid Change
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Please provide description in accordance with HGVS nomenclature guidelines. Please use amino acid one letter abbreviations
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Variant Interpretation
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Do you consider this variant as PATHOGENIC, NEUTRAL, or INDETERMINATE.
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Variant Segregation
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Does this variant segregate in affected family members? Please indicate yes or no.
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No. Segregating
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What is the total number of segregating individuals in this family? (if applicable)
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Sibship
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Were they in the same sibship? Please indicate yes or no. (if applicable)
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Other Pathogenic Variants
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List any other possibly pathogenic variants found in this family.
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Publication Details
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Please
provide publication citation if data has been published. If this
is an unpublished submission, please use UNPUBLISHED and list individuals that you wish credited.
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Additional Comments
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Any comments that you wish to provide that might aid the curation of the variant
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