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Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Variant Original description: Original report Type: Type of variant at DNA level. Variant remarks: Variant remarks PORCN DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin X_inactivation: X skewing Reference: Reference Detection/Template: Detection/Template Detection/Technique: Detection/Technique