Supplemental Table S4. List of 111 unique variants assessed in the CFseq validation.
Number / Variant / Variant cDNA (NM_000492.3) / Variant protein (NP_000483.3) / Legacy name / Expected (n) / Detected (n) / Disease-causing in CFTR2? / On 40-mutation Luminex panel? / On 23-mutation ACMG panel? / Benign(internal database)1 / delF508 / c.1521_1523delCTT / p.Phe508del / delF508 / 95 / 95 / Yes / Yes / Yes
2 / W1282X / c.3846G>A / p.Trp1282X / W1282X / 5 / 5 / Yes / Yes / Yes
3 / 1717-1G>A / c.1585-1G>A / No protein name / 1717-1G>A / 1 / 1 / Yes / Yes / Yes
4 / 3849+10kbC>T / c.3717+12191C>T / NA / 3849+10kbC>T / 4 / 4 / Yes / Yes / Yes
5 / 621+1G>T / c.489+1G>T / No protein name / 621+1G>T / 5 / 5 / Yes / Yes / Yes
6 / delI507 / c.1519_1521delATC / p.Ile507del / delI507 / 2 / 2 / Yes / Yes / Yes
7 / G542X / c.1624G>T / p.Gly542X / G542X / 14 / 14 / Yes / Yes / Yes
8 / G551D / c.1652G>A / p.Gly551Asp / G551D / 5 / 5 / Yes / Yes / Yes
9 / 3791delC / c.3659delC / p.Thr1220LysfsX8 / 3791delC / 1 / 1 / Yes / Yes / Yes
10 / G85E / c.254G>A / p.Gly85Glu / G85E / 1 / 1 / Yes / Yes / Yes
11 / N1303K / c.3909C>G / p.Asn1303Lys / N1303K / 1 / 1 / Yes / Yes / Yes
12 / R1162X / c.3484C>T / p.Arg1162X / R1162X / 2 / 2 / Yes / Yes / Yes
13 / R334W / c.1000C>T / p.Arg334Trp / R334W / 2 / 2 / Yes / Yes / Yes
14 / R553X / c.1657C>T / p.Arg553X / R553X / 5 / 5 / Yes / Yes / Yes
15 / R347P / c.1040G>C / p.Arg347Pro / R347P / 1 / 1 / Yes / Yes
16 / 3120+1G>A / c.2988+1G>A / No protein name / 3120+1G>A / 3 / 3 / Yes / Yes / Yes
17 / A559T / c.1675G>A / p.Ala559Thr / A559T / 2 / 2 / Yes / Yes
18 / R75X / c.223C>T / p.Arg75X / R75X / 2 / 2 / Yes / Yes
19 / R1066C / c.3196C>T / p.Arg1066Cys / R1066C / 1 / 1 / Yes / Yes
20 / W1089X / c.3266G>A / p.Trp1089X / W1089X / 2 / 2 / Yes / Yes
21 / 1812-1G>A / c.1680-1G>A / No protein name / 1812-1G>A / 1 / 1 / Yes / Yes
22 / 2055del9>A / c.1923_1931del9insA / p.Ser641ArgfsX5 / 2055del9>A / 3 / 3 / Yes / Yes
23 / 2307insA / c.2175_2176insA / p.Glu726ArgfsX4 / 2307insA / 1 / 1 / Yes / Yes
24 / 406-1G>A / c.274-1G>A / No protein name / 406-1G>A / 4 / 4 / Yes / Yes
25 / 1288insTA / c.1153_1154insAT / p.Asn386IlefsX3 / 1288insTA / 1 / 1 / Yes / Yes
26 / 2105-2117del13insAGAAA / c.1973_1985del13insAGAAA / p.Arg658LysfsX4 / 2105-2117del13insAGAAA / 2 / 2 / Yes / Yes
27 / 3272-26A>G (outside ROI) / c.3272-26A>G (outside ROI) / NA / 3272-26A>G / 1 / 1 / Yes / Yes
28 / 663delT / c.531delT / p.Ile177MetfsX12 / 663delT / 1 / 1 / Yes / Yes
29 / H199Y / c.595C>T / p.His199Tyr / H199Y / 1 / 1 / Yes / Yes
30 / P205S / c.613C>T / p.Pro205Ser / P205S / 2 / 2 / Yes / Yes
31 / S492F / c.1475C>T / p.Ser492Phe / S492F / 1 / 1 / Yes / Yes
32 / W1204X(3744G>A) / c.3611G>A or c.3612G>A / p.Trp1204X / W1204X(3744G>A) / 1 / 1 / Yes / Yes
33 / G330X / c.988G>T / p.Gly330X / G330X / 1 / 1 / Yes / Yes
34 / 1154insTC / c.1022_1023insTC / p.Phe342HisfsX28 / 1154insTC / 1 / 1 / Yes
35 / L206W / c.617T>G / p.Leu206Trp / L206W / 1 / 1 / Yes
36 / E60X / c.178G>T / p.Glu60X / E60X / 1 / 1 / Yes
37 / Y1092X / c.3276C>A or c.3276C>G / p.Tyr1092X / Y1092X / 1 / 1 / Yes
38 / Q220X / c.658C>T / p.Gln220X / Q220X / 1 / 1 / Yes
39 / 2622+1G>A / c.2490+1G>A / No protein name / 2622+1G>A / 1 / 1 / Yes
40 / 712-1G>T / c.580-1G>T / No protein name / 712-1G>T / 1 / 1 / Yes
41 / S549N / c.1646G>A / p.Ser549Asn / S549N / 2 / 2 / Yes / Yes
42 / 3876delA / c.3744delA / p.Lys1250ArgfsX9 / 3876delA / 2 / 2 / Yes / Yes
43 / 3120G>A / c.2988G>A / NA / 3120G>A / 1 / 1 / Yes
44 / R117H / c.350G>A / p.Arg117His / R117H / 4 / 4 / Varying clinical consequence / Yes
45 / R74W / c.220C>T / p.Arg74Trp / R74W / 1 / 1 / Varying clinical consequence
46 / D1152H / c.3454G>C / p.Asp1152His / D1152H / 2 / 2 / Varying clinical consequence
47 / R668C / c.2002C>T / p.Arg668Cys / R668C / 4 / 4 / Not CF-causing
48 / L997F / c.2991G>C / p.Leu997Phe / L997F / 7 / 7 / Not CF-causing
49 / I1027T / c.3080T>C / p.Ile1027Thr / I1027T / 1 / 1 / Not CF-causing
50 / R1162L / c.3485G>T / p.Arg1162Leu / R1162L / 2 / 2 / Not CF-causing
51 / R31C / c.91C>T / p.Arg31Cys / R31C / 2 / 2 / Not CF-causing
52 / -861delT / c.-861delT / NA / -790T9/8 / 2 / 2 / Benign
53 / 744-9_744-6delGATT / c.744-9_744-6delGATT / NA / TTGArepeats / 40 / 40 / Benign
54 / -8G>C / c.-8G>C / NA / 125G/C / 1 / 1 / Benign
55 / -966T>G / c.-966T>G / NA / -834T/G / 11 / 11 / Benign
56 / 1408G>A / c.1408G>A / p.Met470Val / M470V / 45 / 45 / Benign
57 / 1523T>G / c.1523T>G / p.Phe508Cys / F508C / 1 / 1 / Benign
58 / 2562T>G / c.2562T>G / p.p.Thr854Thr / 2694T/G / 26 / 26 / Benign
59 / 3870A>G / c.3870A>G / p.Pro1290Pro / P1290P / 1 / 1 / Benign
60 / 4272C>T / c.4272C>T / p.Tyr1424Tyr / 4404C/T / 1 / 1 / Benign
61 / 4389G>A / c.4389G>A / p.Gln1463Gln / 4521G/A / 17 / 17 / Benign
62 / 869+11C>T / c.869+11C>T / NA / 1001+11C/T / 34 / 34 / Benign
63 / 2789+5G>A / c.2657+5G>A / NA / 2789+5G>A / 1 / 1 / Yes
64 / delF311 / c.933_935delCTT / p.Phe311del / delF311 / 8 / 8 / Yes
65 / 935delA / c.803delA / p.Asn268Ilefs / 935delA / 4 / 4 / Yes
66 / Q98R / c.293A>G / p.Gln98Arg / Q98R / 3 / 3 / Yes
67 / -275G>A / c.-275G>A / NA / NA / 1 / 1
68 / -288G>C / c.-288G>C / NA / NA / 1 / 1
69 / -330T>G / c.-330T>G / NA / NA / 1 / 1
70 / -448A>G / c.-448A>G / NA / NA / 2 / 2
71 / -741T>G / c.-812T>G / NA / -741T>G / 1 / 1
72 / 1001+8G>T / c.1001+8G>T / NA / NA / 1 / 1
73 / 1116+15T>A / c.1116+15T>A / NA / NA / 1 / 1
74 / L467F / c.1399C>T / p.Leu467Phe / L467F / 1 / 1
75 / I506T / c.1517T>C / P.Ile506Thr / I506T / 1 / 1
76 / D513G / c.1538A>G / p.Asp513Gly / D513G / 1 / 1
77 / 1680-870T>A / c.1680-870T>A / NA / NA / 45 / 45
78 / 1680-871A>G / c.1680-871A>G / NA / NA / 1 / 1
79 / V562I / c.1684G>A / p.Val562Ile / V562I / 1 / 1
80 / G622D / c.1865G>A / p.Gly622Asp / G622D / 2 / 2
81 / 1899-13T>G / c.1899-13T>G / NA / NA / 1 / 1
82 / R74R / c.222G>A / p.Arg74Arg / R74R / 1 / 1
83 / 2490+19G>T / c.2490+19G>T / NA / NA / 1 / 1
84 / D836Y / c.2506G>T / p.Asp836Tyr / D836Y / 1 / 1
85 / A872E / c.2615C>A / p.Ala872Glu / A872E / 1 / 1
86 / 2620-12G>A / c.2620-12G>A / NA / NA / 1 / 1
87 / 2752-6T>C / c.2620-6T>C / NA / 2752-6T>C / 1 / 1
88 / S877A / c.2629T>G / p.Ser877Ala / S877A / 1 / 1
89 / Y913C / c.2738A>G / p.Tyr913Cys / Y913C / 1 / 1
90 / 2901C>T / c.2769C>T / p.Ala923Ala / 2901C>T / 1 / 1
91 / V938G / c.2813T>G / p.Val938Gly / V938G / 1 / 1
92 / 2856G>A / c.2856G>A / p.Met952Ile / M952I / 2 / 2
93 / L967S / c.2900T>C / p.Leu967Ser / L967S / 2 / 2
94 / D985E / c.2955C>A / p.Asp985Glu / NA / 1 / 1
95 / A1009T / c.3025G>A / p.Ala1009Thr / A1009T / 1 / 1
96 / Y1014C / c.3041A>G / p.Tyr1014Cys / Y1014C / 2 / 2
97 / D110E / c.330C>A / p.Asp110Glu / D110E / 1 / 1
98 / 3601-17T>C / c.3469-17T>C / NA / 3601-17T>C / 1 / 1
99 / 3499+3A>C / c.3499+3A>C / NA / NA / 1 / 1
100 / I125T / c.374T>C / p.Ile125Thr / I125T / 1 / 1
101 / S13C / c.38C>G / p.Ser13Cys / S13C / 1 / 1
102 / Q1352H / c.4056G>C / p.Gln1352His / Q1352H / 2 / 2
103 / 4095+6G>T / c.4095+6G>T / NA / NA / 1 / 1
104 / T1396P / c.4186A>C / p.Thr1396Pro / T1396P / 1 / 1
105 / 4375-20A>G / c.4243-20A>G / NA / 4375-20A>G / 1 / 1
106 / S1426F / c.4277C>T / p.Ser1426Phe / S1426F / 1 / 1
107 / D1445N / c.4333G>A / p.Asp1445Asn / D1445N / 1 / 1
108 / R170H / c.509G>A / p.Arg170His / R170H / 1 / 1
109 / 185+4A>T / c.53+4A>T / NA / 185+4A>T / 1 / 1
110 / 876-15T>C / c.876-15T>C / NA / NA / 1 / 1
111 / L320V / c.958T>G / p.Leu320Val / L320V / 1 / 1
Total / Total / 499 / 499
The variant c.3272-26A>G is located outside the CFTR ROI but is included in the list of 40 variants screened in newborns in the State of California and was therefore included in analysis.
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