Table 1.
Chromosome | Position | SNP ID | Reference Allele | Alternate Allele | Frequency | dPSI | SpliceScan Change | Predicted Outcome |
---|---|---|---|---|---|---|---|---|
3 | 123451738 | rs147245669 | C | T | 0.0005 | −58.9 | Donor = 0.01 Exon 11 score = 0 |
Increased MLCK 2; more skipping |
3 | 123451743 | rs77323602 | T | C | 0.01 | 5.44 | Donor = 0.92 Exon 11 score = 0.15 |
Increased MLCK1; more inclusion |
Definition of abbreviations: C, cytosine; dPSI, change in percent of transcripts with the exon spliced in; MLCK, myosin light-chain kinase; SNP, single-nucleotide polymorphism; T, thymine.