Frameshift mutations
Nonsense mutations
Splice site mutations involving the consensus splice sequence (+1/+2/-1/-2 positions)
Large deletions or duplications (involving whole exons) or other large rearrangements
A limited number of missense mutations (amino-acid substitutions), principally involving cysteines in the ring finger of BRCA1
Polymorphisms include all variants which occur at significant frequency in the population (1% or more).

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