Table 1. Genotypes tested in validation phase (phase 1).
| Patient | Genotype (cDNAposition) | Genotype (Legacy names) | Phenotype |
|---|---|---|---|
| T-01 | c.1040G>A | R347H | Carrier |
| T-04 | c.4426C>T | Q1476X | Carrier |
| T-07 | c.1210-34TG[12]T[5] | (TG)12T5 | Carrier |
| T-13 | c.1210-34TG[12]T[5] | (TG)12T5 | Other |
| T-15 | c.1519_1521del | I507del | CBAVD2 |
| T-19 | c.1521_1523del | F508del | Carrier |
| T-20 | c.1521_1523del | F508del | Carrier |
| T-25 | c.[1521_1523del];[2052del] | F508del/2184delA1 | CF |
| T-26 | c.[1652G>A];[2538G>A] | G551D/W648X | CF |
| T-27 | c.[1521_1523del];[2583del] | F508del/2711delT1 | CF |
| T-28 | c.[1521_1523del];[254G>A] | F508del/G85E | CF |
| T-29 | c.[1521_1523del];[25dup] | F508del/155insG | CF |
| T-30 | c.3376_3381dup | 3513insGAAGGA | Carrier |
| T-31 | c.[1521_1523del];[946del] | F508del/1078delT | CF |
| T-32 | c.[2657+5G>A];[1523T>G;3752G>A] | 2789+5G>A/S1251N;F508C | CF |
| T-33 | c.[1585-1G>A];[1624G>T] | 1717-1G>A/G542X | CF |
| T-34 | c.[1519_1521del];[1210-34TG[13]T[5];3705T>G] | I507del/S1235R;(TG)13T5 | Other3 |
| T-35 | c.[325_327delinsG];[1040G>C] | 457TAT>G/R347P | CF |
| T-36 | c.[366T>A];[4374dup] | Y122X/4506insC | CF |
| T-37 | c.2589_2599del | 2721del11 | Carrier |
| T-38 | c.[2051_2052delinsG];[2657+5G>A] | 2183AA>G1/2789+5G>A | CF |
| T-39 | c.[870–1113_870-1110del];[3909C>G] | 1002-1113delGAAT/N1303K | CF |
| T-40 | c.174_177del | 306delTAGA | Carrier |
| T-41 | c.[350G>A];[1000C>T] | R117H/R334W | Newborn Screening4 |
| T-42 | c.[579+1G>T];[579+1G>T] | 711+1G>T/711+1G>T | CF |
| T-43 | c.[1521_1523del];[2052dup] | F508del/2184insA1 | CF |
| T-44 | c.489+1G>T | 621+1G>T | Carrier |
| T-45 | c.[1652G>A];[1210-34TG[11]T[5];3532_3535dup] | G551D/3667ins4;(TG)11T5 | CF |
| T-46 | c.[3458T>A];[3889dup] | V1153E/4016insT1 | CBAVD |
| T-47 | c.[2002C>T;3718-2477C>T] | 3849+10kbC>T;R668C | CP |
| T-48 | c.[1521_1523del];[3846G>A] | F508del/W1282X | CF |
| T-51 | c.1210-34TG[12]T[5] | (TG)12T5 | CP |
| T-52 | c.[1235del];[1521_1523del] | 1367delC/F508del | CF |
| T-53 | c.1364C>A | A455E | Carrier |
| T-54 | c.[2708A>T] | Y903F | Carrier |
| T-56 | c.[617T>G];[868C>T] | L206W/Q290X | CP + CBAVD5 |
| T-57 | c.1521_1523del | F508del | CP |
| T-58 | c.[164+1G>T];[3140-26A>G] | 296+1G>T/3272-26A>G | Bronchiectasis |
| T-59 | c.[1521_1523del];[1657C>T] | F508del/R553X | CF |
| T-60 | c.960A>T | L320F1 | Carrier |
| T-61 | c.[1521_1523del];[3484C>T] | F508del/R1162X | CF |
| T-62 | c.[262_263del];[1210-34TG[12]T[5]] | 394delTT1/(TG)12T5 | CBAVD |
| T-63 | c.[1585-1G>A];[1210-34TG[13]T[5];3705T>G] | 1717-1G>A/S1235R;(TG)13T5 | CBAVD |
| T-64 | c.[1521_1523del];[3528del] | F508del/3659delC | CF |
| T-65 | c.-1270-?_11553_?del | CFTRdele1-24 | Carrier |
Samples without pathogenic variants are not represented in this table.
1 Mutation located in a HP stretch (≥ 5 repeats)
2Sample from EQA Scheme CF Network 2013
3Healthy mother of a CF child with I507del/F508del genotype
4Newborn detected in the context of the French newborn screening program with negative sweat test and no symptoms evocative of CF after a 5 years follow-up.
5Patient is also heterozygous for the p.Asn34Ser variant of SPINK1 that predispose to CP.