Experimentally observed effects on mRNA splicing of group A variants and predicted protein change.

aProtein change was predicted using ExPASy Proteomics Server (http://www.expasy.ch/);bThe classification as class 5 (pathogenic) or class 4 (likely pathogenic) was based on mono- or bi-allelic expression of the normal transcript [23]. Previously characterized variants are indicated;c[22];d[43];e[22], [44], [45];f[43];g[18]. An asterisk indicates variants for which the observed transcript pattern differed from that reported by previous studies (see Table S6). Abbreviations: SS, splice Site (D, donor; A, acceptor); BIC, Breast Cancer Information Core (http://research.nhgri.nih.gov/bic/); HGVS, Human Genetic Variation Society (http://www.hgvs.org/mutnomen).