TABLE 3.

Type and frequency of CFTR genotypes

CFTR Genotype	Dominican Republic, N (%)	Puerto Rico, N (%)
2 CF-disease causing, trans	6 (10%)	17 (81%)
2 CF-disease causing, cis	1 (2%)	1 (5%)
2 VVCC, 1 VUS, cis	---	1 (5%)
1 VUS, 1 predicted, cis	1 (2%)	---
2 Predicted, cis	3 (5%)	---
1 VVCC, 1 VUS, cis	1 (2%)	---
1 CF-causing	1 (2%)	---
1 VVCC	3 (5%)	---
1 VUS	2 (3%)	---
1 Predicted	1 (2%)	---
No variants	42 (69%)	2 (10%)

Note: CFTR variants were categorized using three functional annotation databases as well as three computational tools for predicting deleteriousness. Cis and trans describe the relationship between two or more variants; cis refers to variants on the same gene copy while trans describes variants on different gene copies.

Abbreviations: CF, cystic fibrosis; VVCC, variant of varying clinical consequence; VUS, variant of uncertain significance.