Supplemental Data Table 2. Identity of 30 blinded DNA samples1 Additional variants identified Source Code Known CFTR variants Disease-related Benign 1 Coriell NA11283 A455E, F508del 1001+11C>T 2 Coriell NA11859 2789+5G>A 2694T>G, 4521G>A 3 Coriell NA12444 1717-1G>A 1540A>G, 2694T>G, 4521G>A 4 Coriell NA11860 3849+10kbC>T 2694T>G, 4521G>A 5 Coriell NA11472 N1303K, G1349D 1001+11C>T, 1341+18 A>C, 1540A>G 6 Coriell NA18800 1898+1G>A, F508del 1001+11C>T, 1540A>G 7 Coriell NA11723 W1282X 1540A>G, 2694T>G, 4521G>A 8 Coriell NA11280 621+1G>T , 711+1G>T 1001+11C>T, 1540A>G 9 Coriell NA08338 G551D 2694T>G, 4002A>G, 4521G>A 10 Coriell NA12785 R347P, G551D 1540A>G, 2694T>G, 4404C>T, 4521G>A 11 Coriell NA07441 621+1G>T, 3120+1G>A 1001+11C>T, 2694T>G, 4521G>A 12 Coriell NA12960 R334W 3500-2 A>T 1540A>G 13 Coriell NA18799 2184delA, F508del 1001+11C>T, 1540A>G 14 Coriell NA11282 G85E, 621+1G>T 1001+11C>T, 1540A>G 15 Coriell NA12585 R1162X 2694T>G, 4521G>A 16 Coriell NA11284 F508del, R560T 1001+11C>T, 2694T>G, 4521G>A 17 Coriell NA11277 I507del 2694T>G, 4521G>A 18 Coriell NA11761 G551D, R553X 1540A>G, 2694T>G, 4521G>A 19 Coriell NA11255 None R31C 1540A>G, 2694T>G 20 Coriell NA11254 None 1540A>G 21 Coriell CD00003 1078delT 1540A>G 22 Coriell CD00010 I148T 1001+11C>T, 2694T>G, 4521G>A 23 Coriell NA11496 G542X 1001+11C>T 24 Coriell NA11275 3659delC, F508del 1001+11C>T, 1540A>G 25 Coriell NA07469 F508del, R553X 125 G>C, 1001+11C>T, 2694T>G 26 Coriell GM13591 F508del, R117H 125 G>C, 1001+11C>T 27 Utah F508del 1150delA 1001+11C>T, 2694T>G, 4521G>A 28 Utah F508del 1001+11C>T 29 Utah F508del 1001+11C>T, 2694T>G, 4521G>A 30 Utah None R75X 125 G/C, 2694T>G

1Variants in bold type are homozygous