1 - 91
||Click here to save this list in a tab-delimited text file.|
Legend: [ BEST1 full legend ]
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.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Variant
description: Original report Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA.