Table 4. Variants identified in the performance monitoring phase (Phase 2).
| Patients (n = 257) | |
| SNVs/InDels | c.91C>T (R31C), c.220C>T (R74W), c.350G>A (R117H; n = 4), c.472G>A (S158G), c.508C>T (R170C), c.650G>A (E217G), c.674G>A (C225Y; n = 2), c.721G>T (G241W), c.870-1113_870-1110delGAAT (1002-1113delGAAT; n = 2), c.1117-5A>G (1249-5A>G), c.1130dup (1259insA), c.1327G>T (D443Y), c.1364C>A (A455E; n = 2), c.1393-1G>A (1525-1G>A), c.1521_1523del (F508del; n = 10 with one homozygous patient), c.1624G>T (G542X), c.1696G>A (A566T), c.1727G>C (G576A; n = 4), c.1684G>A (V562I), c.2002C>T (R668C; n = 2), c.2039del (2171delC), c.2210C>T (S737F; n = 2), c.2450G>T (G817V), c.2490+4_2490+7del (2622+4delGGTA), c.2735C>G (S912W), c.2743G>C (V915L), c.2900T>C (L967S), c.2991G>C (L997F), c.3209G>A (R1070Q), c.3208C>T (R1070W), c.3322G>C (V1108L), c.3415A>G (I1139V), c.3485G>T (R1162L; n = 2), c.3705T>G (S1235R; n = 4), c.3808G>A (D1270N), c.3909C>G (N1303K), c.3935A>G (D1312G), c.4243-5C>T (4375-5C>T), c.4433C>G (T1478R) |
| (TG)mTn | c.1210-34TG[11]T[5]1 ((TG)11T5; n = 12), c.1210-34TG[12]T[5]1 ((TG)12T5; n = 10) |
| Positive Controls (n = 21) | |
| SNVs/InDels | c.350G>A (R117H; n = 2), c.1000C>T (R334W), c.1117-5A>G (1249-5A>G), c.1521_1523del (F508del; n = 11 with one homozygous control), c.1585-1G>A (1717-1G>A), c.2039del (2171delC), c.2052dup1 (2184insA), c.2589_2599del (2721del11), c.3468+1G>T (3600+1G>T) |
| CNVs | c.54-5940_273+10250del (CFTRdele2_3; n = 14), c.274-?_1679+?dup (CFTRdup4_10; n = 2), c.-1270-?_11553_?del (CFTRdele1_24) |
| (TG)mTn | c.1210-34TG[11]T[6]1 ((TG)11T6) |
1 Mutation located in a HP stretch (≥ 5 repeats).