To access the data, click or select the words “Appendix 1.” Pt = patient; Hom = homozygous; Het = heterozygous; SIFT = sorting Intolerant from Tolerance; HSF = human splicing finder program; CV = consensus values; EVS = exome variant server; POD = possibly damaging; PRD = probably damaging; ND = not detected. SIFT (version 4.0.4) results are reported to be tolerant if tolerance index ≥ 0.05 or intolerant if tolerance index < 0.05. Polyphen-2 (vision 2.1) appraises mutations qualitatively as Benign, Possibly Damaging or Probably Damaging based on the model's false positive rate. The cDNA is numbered according to Ensemble transcript ID ENST00000382082, in which +1 is the A of the translation start codon. Human splicing finder version 2.4.1 was applied to predict the effect of each variant on splicing. The results from HSF matrix indicate the values for the wild type and mutant sequences. The larger difference of values between the wild type and the mutant sequences indicates the greater change that the variant can affect on the splice site. EVS denotes variants in the Exome Variant Server, NHLBI Exome Sequencing Project, Seattle, WA.