Patient/ family No. | Sex | Age | Family history | Spontaneous pneumothorax | Lung cysts | skin lesions | Kidney lesions | Smoking | Mutation (cDNA level) | Mutation (protein level) | Pathogenicity | Evidence |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 51 | Y | Y | Y | Y | N | N | c.1287C > Ta | p.His429= | VUS | PP3 |
2–1 | F | 72 | Y | Y | Y | N | N | N | c.1283insGa | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS3, PM1, PM2, PP3, PS1 |
2–2 | F | 49 | Y | Y | N | N | N | |||||
3 | F | 58 | Y | N | Y | N | N | N | c.469_471delTTC | p.Phe157del | Pathogenic (II) | PS1, PS3, PM4, PP3 |
4 | F | 58 | Y | N | Y | Y | Right renal cysts | N | c.1285dupC | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
5–1 | F | 49 | Y | Y | Y | N | N | N | c.1597C > T | p.Gln533Ter | Pathogenic (Ia) | PVS1, PS1, PS3, PM2, PP3 |
5–2 | F | 39 | N | Y | N | N | N | |||||
6 | F | 56 | Y | Y | Y | Y | NA | N | c.1177-5_1177-3delCTC | – | Pathogenic (II) | PS3, PP3, PS1 |
7 | F | 58 | N | N | Y | Y | N | N | c.780-12_780-3delTGTGTTCTCCa | – | VUS | PM2, PM6, PP3 |
8 | F | 54 | Y | Y | Y | N | N | N | c.1579_1580insA | p.Arg527Glnfs* | Pathogenic (Ia) | PVS1, PS1, PM2, PP3 |
9–1 | F | 34 | Y | Y | Y | N | Bilateral renal cysts | N | c.249 + 1G > Aa | – | Pathogenic (Ia) | PVS1, PS3, PM2, PP3 |
9–2 | F | 57 | N | Y | Y | N | 12 pack-years | |||||
10 | F | 61 | Y | N | Y | Y | Bilateral renal cysts | N | c.1653_1654insTGa | p.Phe552Cysfs*4 | Pathogenic (Ic) | PVS1, PM2, PP3 |
11–1 | F | 31 | Y | Y | Y | N | N | N | c.1285dupC | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
11–2 | F | 57 | N | Y | N | N | N | |||||
12 | F | 45 | Y | Y | Y | N | Left renal cysts | N | c.250delGa | p.Gly84Alafs*46 | Pathogenic (Ic) | PVS1, PM2, PP3 |
13 | F | 39 | NA | NA | NA | NA | NA | NA | c.1285delC | p.His429Thrfs*39 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
14–1 | F | 43 | Y | Y | Y | N | N | N | c.1015C > Ta | p.Gln339Ter | Pathogenic (Ic) | PVS1, PM2, PP3 |
14–2 | M | 22 | N | Y | Y | NA | N | |||||
14–3 | F | 15 | N | Y | N | NA | N | |||||
15 | F | 43 | Y | N | Y | N | N | N | c.1533G > A | p.Trp511Ter | Pathogenic (Ic) | PVS1, PM2, PP3 |
16 | F | 33 | Y | Y | Y | Y | N | N | c.1177-2A > Ca | – | Pathogenic (Ic) | PVS1, PM2, PP3 |
17–1 | F | 48 | Y | Y | Y | N | NA | N | c.1408delC | p.Cys471Alafs*3 | Pathogenic (Ia) | PVS1, PS1, PM2, PP3 |
17–2 | F | 22 | N | Y | N | NA | N | |||||
18–1 | M | 51 | Y | Y | Y | Y | N | N | c.929_930insTTa | p.Pro311Serfs*13 | Pathogenic (Ic) | PVS1, PM2, PP3 |
18–2 | F | 28 | Y | Y | Y | NA | N | |||||
19 | F | 50 | NA | NA | NA | NA | NA | NA | c.658C > T | p.Gln220Ter | Pathogenic (Ia) | PVS1, PS1, PM2, PP3 |
20 | F | NA | NA | NA | NA | NA | NA | NA | c.1433-1G > T | – | Pathogenic (Ic) | PVS1, PM2, PP3 |
21 | F | 48 | Y | N | Y | N | N | N | c.658C > T | p.Gln220Ter | Pathogenic (Ia) | PVS1, PS1, PM2, PP3 |
22 | F | 46 | Y | Y | Y | N | N | N | △Exon1a | – | Pathogenic (Ia) | PVS1, PS3, PM1, PM2 |
23 | F | 45 | Y | N | Y | Y | Left renal hamartoma | N | c.1285dupC | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
24 | F | 35 | N | Y | Y | N | N | N | c.1285dupC | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
25 | F | 33 | Y | Y | Y | Y | N | N | c.1285delC | p.His429Thrfs*39 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
26 | F | 53 | N | N | Y | Y | N | N | c.1301-2A > Ca | – | Pathogenic (Ic) | PVS1, PM2, PP3 |
27 | F | 44 | Y | Y | Y | Y | N | N | c.1285dupC | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
28 | F | 50 | Y | Y | Y | Y | Renal cysts | N | c.980_981insCa | p.Glu328Argfs*62 | Pathogenic (Ic) | PVS1, PM2, PP3 |
29 | F | 44 | Y | Y | Y | N | Bilateral renal cysts | N | c.1285dupC | p.His429Profs*27 | Pathogenic (Ia) | PVS1, PS1, PS3, PM1, PM2 |
30 | F | 54 | Y | Y | Y | Y | Right renal cysts | N | c.1227C > Ga | p.Tyr409Ter | Pathogenic (Ic) | PVS1, PM2, PP3 |
31 | F | 66 | Y | N | Y | Y | Bilateral renal cysts | N | c.282_290delATATATCAGa | p.Tyr95_Ser97del | VUS | PM2, PP1, PP3 |