Table S6. Mutations of CFTR, SCNN1A, SCNN1B and SCNN1G among bronchiectasis patients and healthy subjects.
| Gene | Exon | Nucleotide mutation | Protein change | Variant classification | Bronchiectasis patients (n=192) | Healthy subjects (n=100) | ExAC_Freq | dbSNP |
|---|---|---|---|---|---|---|---|---|
| CFTR | Exon 12 | c.1666A>G | p.I556V | Missense | 18 | 9 | 0.0029 | rs75789129 |
| CFTR | Exon 20 | c.3205G>A | p.G1069R | Missense | 4 | 1 | 0.0002 | rs200321110 |
| CFTR | Exon 6 | c.650A>G | p.E217G | Missense | 2 | 1 | 0.0039 | rs121909046 |
| CFTR | Exon 25 | c.4056G>C | p.Q1352H | Missense | 5 | 3 | 0.001 | rs113857788 |
| CFTR | Exon 17 | c.2770G>A | p.D924N | Missense | 1 | 0 | 7.42E−05 | rs201759207 |
| CFTR | Exon 17 | c.2684G>A | p.S895N | Missense | 2 | 1 | 0.0003 | rs201864483 |
| CFTR | Exon 11 | c.1558G>A | p.V520I | Missense | 1 | 0 | 0.0002 | rs77646904 |
| CFTR | Exon 18 | c.2936A>C | p.D979A | Missense | 1 | 0 | 2.48E−05 | rs397508462 |
| CFTR | Exon 14 | c.1909C>T | p.Q637X | Stop-gain | 2 | 0 | – | rs397508320 |
| CFTR | Exon 6 | c.601G>A | p.V201M | Missense | 2 | 0 | 0.0002 | rs138338446 |
| CFTR | Exon 4 | c.374T>C | p.I125T | Missense | 1 | 1 | 0.0006 | rs141723617 |
| CFTR | Exon 27 | c.4262T>A | p.V1421E | Missense | 1 | 0 | – | – |
| CFTR | Exon 2 | c.91C>T | p.R31C | Missense | 1 | 3 | 0.0017 | rs1800073 |
| CFTR | Exon 20 | c.3289C>T | p.R1097C | Missense | 1 | 1 | 0.0002 | rs201591901 |
| CFTR | Exon 22 | c.3592G>A | p.V1198M | Missense | 1 | 0 | 1.65E−05 | rs576710089 |
| CFTR | Exon 15 | c.2540A>G | p.N847S | Missense | 0 | 1 | 8.25E−06 | rs562851847 |
| CFTR | Exon 14 | c.1811C>T | p.T604I | Missense | 0 | 1 | – | rs397508308 |
| CFTR | Exon 15 | c.2552G>A | p.R851Q | Missense | 0 | 1 | 0.0001 | rs397508395 |
| CFTR | Exon 14 | c.2042A>T | p.E681V | Missense | 0 | 1 | 0.0001 | rs201295415 |
| CFTR | Exon 19 | c.3004A>T | p.I1002F | Missense | 0 | 1 | 8.28E−06 | – |
| SCNN1A | Exon 5 | c.1252C>A | p.P418T | Missense | 1 | 0 | 8.83E−06 | – |
| SCNN1A | Exon 1 | c.205G>A | p.D69N | Missense | 1 | 0 | 1.65E−05 | – |
| SCNN1A | Exon 3 | c.953T>G | p.I318S | Missense | 1 | 0 | – | – |
| SCNN1A | Exon 1 | c.28C>T | p.R10W | Missense | 1 | 0 | 0.0001 | rs531838244 |
| SCNN1B | Exon 5 | c.863A>G | p.N288S | Missense | 1 | 0 | 8.24E−06 | rs137852712 |
| SCNN1B | Exon 2 | c.268A>G | p.M90V | Missense | 1 | 0 | 0.0001 | rs150466803 |
| SCNN1B | Exon 5 | c.857C>T | p.S286L | Missense | 0 | 1 | 0.0002 | rs142531781 |
CFTR, cystic fibrosis transmembrane conductance regulator; SCNN1A, sodium channel, epithelial, alpha subunit; SCNN1B, sodium channel, non-voltage-gated 1, beta subunit; NA, not applicable.