Table 1.
Tested samples.
| Mutation (+)a |
cDNA position | Variant effect | Phenotype | Identified | Variant reads, % |
Source | No. of cases |
|---|---|---|---|---|---|---|---|
| +/+ | c.1521_1523delCTT; c.1521_1523delCTT | ΔF508; ΔF508 | CF | Yes | 97 | Dartmouth | 1 |
| +/+ | c.1521_1523delCTT; c.350G>A | ΔF508; R117H | CF | Yes | 53; 50 | Dartmouth | 1 |
| +/+ | c.350G>A; c.1477C>T | R117H; Q493*b | CF | Yes | 52; 49 | Dartmouth | 1 |
| +/+ | c.1521_1523delCTT; c.1000C>T | ΔF508; R334W | CF | Yes | 49; 54 | Dartmouth | 1 |
| +/+ | c.1521_1523delCTT; c.489+1G>T | ΔF508; 621+1G>T | CF | Yes | 48; 47 | Dartmouth | 1 |
| +/+ | c.1521_1523delCTT; c.1364C>A | ΔF508; A455E | CF | Yes | 51; 46 | Dartmouth | 1 |
| +/+ | c.489+1G>T; c.2988+1G>A | 621+1G>T; 3120+1G>A | CF | Yes | 48; 49 | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.1657C>T | ΔF508; R553* | CF | Yes | 44; 49c | Coriell | 2 |
| +/+ | c.1521_1523delCTT; c.3528delC | ΔF508; 3659delC | CF | Yes | 46; 46 | Coriell | 1 |
| +/+ | c.489+1G>T; c.579+1G>T | 621+1G>T; 711+1G>T | CF | Yes | 50; 51 | Coriell | 1 |
| +/+ | c.489+1G>T; c.254G>A | 621+1G>T; G85E | CF | Yes | 50; 45 | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.1679G>C | ΔF508; R560T | CF | Yes | 44; 52 | Coriell | 1 |
| +/+ | c.489+1G>T; c.1364C>A | 621+1G>T; A455E | CF | Yes | 50; 49 | Coriell | 1 |
| +/+ | c.3909C>G; c.4046G>A | N1303K; G1349D | CF | Yes | 47; 52 | Coriell | 1 |
| +/+ | c.2657+5G>A; c.2657+5G>A | 2789+5G>A; 2789+5G>A | CF | Yes | 100 | Coriell | 1 |
| +/+ | c.1040G>C; c.1652G>A | R347P; G551D | CF | Yes | 51; 49 | Coriell | 1 |
| +/+ | c.1000C>T; c.3368–2A>T | R334W; 3500–2A>G | CF | Yes | 53; 45 | Coriell | 1 |
| +/+ | c.254G>A; c.3454G>C | G85E; D1152H | CF | Yes | 44; 47 | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.350G>A | ΔF508; R117H | CF | Yes | 49; 50 | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.54–5940_273+10250del21kb | ΔF508; CFTRdel2,3 | CF | Yes | 47; N/Ad | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.1766+1G>A | ΔF508; 1898+1G>A | CF | Yes | 47; 50 | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.2051_2052delAAinsG | ΔF508; K684Sfs | CF | Yes | 47; 50 | Coriell | 1 |
| +/+ | c.1521_1523delCTT; c.2052del | ΔF508; K684Nfs*38 | CF | Yes | 51; 55 | Coriell | 1 |
| +/− | c.1521_1523delCTT | ΔF508 | Carrier | Yes | 50c | Dartmouth | 16 |
| +/− | c.1652G>A | G551D | Carrier | Yes | 50c | Dartmouth | 5 |
| +/− | c.1519_1521delATC | ΔI507 | Carrier | Yes | 46 | Dartmouth | 1 |
| +/− | c.3454G>C | D1152H | Carrier | Yes | 50 | Dartmouth | 1 |
| +/− | c.1657C>T | R553* | Carrier | Yes | 51 | Dartmouth | 1 |
| +/− | c.178G>T | E60* | Carrier | Yes | 51 | Dartmouth | 1 |
| +/− | c.3846G>A | W1282* | Carrier | Yes | 45c | Dartmouth | 3 |
| +/− | c.1000C>T | R334W | Carrier | Yes | 51 | Dartmouth | 1 |
| +/− | c.1624G>T | G542* | Carrier | Yes | 47c | Dartmouth | 4 |
| +/− | c.3484C>T | R1162* | Carrier | Yes | 43 | Dartmouth | 1 |
| +/− | c.1766+1G>A | 1898+1G>A | Carrier | Yes | 57 | Dartmouth | 1 |
| +/− | c.3773_3774insT | 3905insT (L1258Ffs*7) | Carrier | Yes | 37 | Dartmouth | 1 |
| +/− | c.350G>A | R117H | Carrier | Yes | 50c | Dartmouth | 3 |
| +/− | c.1645A>C | S549R A>C | Carrier | No | N/A | Dartmouth | 1 |
| +/− | c.1040G>A | R347H | Carrier | Yes | 47 | Dartmouth | 1 |
| +/− | c.3909C>G | N1303K | Carrier | Yes | 46 | Dartmouth | 1 |
| +/− | c.3718–2477C>T | 3849+10kbC>T | Carrier | Yes | 51 | Coriell | 1 |
| +/− | c.2988+1G>A | 3120+1G>A | Carrier | Yes | 49 | Coriell | 1 |
| +/− | c.489+1G>T | 621+1G>T | Carrier | Yes | 50 | Coriell | 1 |
| +/− | c.1585–1G>A | 1717–1G>A | Carrier | Yes | 51 | Coriell | 1 |
| +/−e | N/Af | N/A | Normal | N/A | N/A | Dartmouth | 9 |
a
+/+, 2 pathogenic mutations; +/−, carrier of a single pathogenic mutation; −/−, absence of any pathogenic mutations.
b *
, codon termination.
c
The mean percentage of variant reads was used for multiple samples of same genotype.
d
See text and Figure 1 for detection of large deletions.
e
Based on the 64 mutations covered by the xTAG Cystic Fibrosis Assay.
f
N/A, not applicable.