Mutations identified in the TSC NMI subjects.

Column 1 is subject number. f means that this was a familial case of TSC. All others had no family history of TSC.Column 3, letters next to splice site variantsA variants affecting canonical splice sitesB reported as affecting splicing and / or being pathogenicC aberrant TSC2 transcripts shown in this studyD high molecular weight product by RT-PCR of RNA, or allelic distortion of exonic SNPs by RT-PCR analysisE intronic variants not seen previously, that were de novo (n = 1) or segregated with TSC (n = 2), without other confirmatory evidence of effect on splicing.^In P14 and P43 mutations were detected in skin lesions but not in blood or saliva samples (see S2 Table).# Identified by MLPA.Column 7 gives the age of the subject at the time of collection of clinical data.Columns 9–12 indicate the presence or absence of involvement of Skin (S), Brain (B), Heart (H), Kidneys (K), Lungs (L). A blank entry in these columns means no involvement of the respective organ; a number entry indicates the number of major TSC manifestations present in the subject for that organ.Mutations identified in the TSC NMI subjects.