Table 2 -. Comparison between the prevalence of alleles for the most frequent causing variants in the CF Reference Center at São Lucas Hospital - PUCRS and Brazilian Registry of CF.
| Causing variant (HGVS nomenclature) | Reference Center | GBEFC | P Value |
|---|---|---|---|
| N (%) | N (%) | ||
| F508del (NP_000483.3:p.Phe508del) | 97 (52.7) | 3578 (43.9) | <0.05 |
| R1162X (NP_000483.3:p.Arg1162Ter) | 14 (7.6) | 163 (2.0) | <0.01 |
| G542X (NP_000483.3:p.Gly542Ter) | 9 (4.9) | 541 (6.6) | NS |
| N1303K (NP_003117.2:p.Asn1303Lys) | 7 (3.8) | 101 (1.2) | <0.01 |
| 2184delA (NP_000483.3:p.Lys684fs) | 3 (1.6) | 58 (0.7) | NS |
| 2184insA (NP_000483.3:p.Gln685fs) | 2 (1.1) | 19 (0.2) | NS |
| 2789+5G>A (NM_000492.4:c.2657+5G>A) | 2 (1.1) | 28 (0.3) | NS |
| 3120+1G>A (NM_000492.3:c.2988+1G>A) | 2 (1.1) | 224 (2.8) | NS |
| 3132delTG (NP_000483.3:p.Val1001fs) | 2 (1.1) | 8 (0.1) | <0.01 |
| 3171delC (NP_000483.3:p.Tyr1014fs) | 2 (1.1) | 2 (0.0) | <0.01 |
| 3272-26A>G (NM_000492.4:c.3140-26A>G) | 2 (1.1) | 71 (0.9) | NS |
| 711+5G>A (NM_000492.4:c.579+5G>A) | 2 (1.1) | 22 (0.3) | NS |
| Del Exons 19 - 21 | 2 (1.1) | 12 (0.1) | <0.05 |
| R347H (NP_004422.2:p.Arg347His) | 2 (1.1) | 11 (0.1) | <0.05 |
CF = cystic fibrosis; GBEFC = Brazilian study group of cystic fibrosis; N = number of alleles; % = percentage of alleles; P value calculated by the chi-square test with Yates correction; NS = not significant.