a) |
Deletions |
consecutive nucleotide loss |
b) |
Insertions |
consecutive nucleotide insertion and/ or duplication |
c) |
Duplications |
duplications, as is b) |
d) |
Deletional-
insertions |
there are a variety of possible scenarios for this event including 1) co-localization of an insertion and a deletion; 2) two non-adjacent (≥1nt) mutations being either dual insertions or deletions; 3) more complex rearrangements. All of these have been simplified to align directly with the coding region and are reported simply as deletions (across the region) plus the associated amino acid insertion |
e) |
Mutation |
only those that change the reference amino acid sequence (gi: 29725608), i.e. missense and frameshift mutations that alter the amino acid sequence have been included, however silent somatic mutations have not been included in the analysis and are separately reported in the database |