Table 1.

Summary information for the variants chosen for experimental testing with the minigene splicing assay.

Variant Number	rsSNP ID	cDNA Name	Position on Chromosome 7	CFTR Exon #	Exon Size (bps)	Position within Exon
1	rs35033453	c.738G>A*	116,962,696	6	164	159
2	rs1800083	c.915C>T	116,967,435	8	247	46
3	rs1800084	c.927C>G	116,967,447	8	247	58
4	rs1800105	c.2604A>G	117,022,333	15	129	114
5	rs1800122	c.3594G>T	117,054,937	22	249	126

Notes:

^*This mutation (rs35033453) is not currently included in the CF Mutation Database, but its corresponding cDNA name was determined based on its position. The cDNA names for all mutations include the reference and variant alleles observed at the corresponding locus. Genomic positions and variant information of all mutations are relative to the reference strand of the hg18 UCSC assembly of the human genome.