Table E1.
Patient no. | Sex | Age (y) | Phenotype | Genotype variation | Protein variation | Autoimmunity | Lymphoid hyperplasia |
---|---|---|---|---|---|---|---|
1 | Male | 65 | CS/BRRS | c.395G>A | p.Gly132Asp | • | |
2 | Male | 49 | CS | c.800delA | p.Lys267ArgfsX9 | • | |
3 | Female | 34 | CS | c.287C>G | p.Pro96Arg | ||
4 | Male | 7 | CS | c.18_19delAG | p.Glu7AspfsX3 | ||
5 | Female | 40 | CS | c.1003C>T | p.Arg335X | • | |
6 | Female | 60 | CS | c.1033C>G | p.Leu345Val | • | |
7 | Female | 49 | CS | c.49C>T | p.Gln17X | • | • |
8 | Female | 60 | CS | c.697C>T | p.Arg233X | ||
9 | Male | 25 | CS | c.1-?_1212+?del | • | ||
10 | Female | 14 | CS | c.1003C>T | p.Arg335X | ||
11 | Male | 48 | CS | c.388C>T | p.Arg130X | • | • |
12 | Female | 68 | CS | c.126_127insTC | p.Glu43SerfsX12 | ||
13 | Female | 59 | CS | c.1-?_1212+?del | • | ||
14 | Female | 50 | CS | c.235G>A | p.Ala79Thr | • | |
15 | Male | 5 | CS | c.737C>T | p.Pro246Leu | ||
16 | Male | 26 | CS | c.382A>G | p.Lys128Glu | • | |
17 | Male | 40 | CS | c.49C>T | p.Gln17X | ||
18 | Male | 17 | CS | c.49C>T | p.Gln17X | ||
19 | Female | 14 | CS | c.511C>T | p.Gln171X | ||
20 | Male | 8 | CS/BRRS | c.420_421insA | p.His141ThrfsX39 | ||
21 | Male | 43 | CS/BRRS | c.441_442delGGinsA | p.Ala148HisfsX5 | ||
22 | Female | 64 | CS | c.386G>A | p.Gly129Glu | ||
23 | Female | 47 | CS | c.401T>C | p.Met134Thr | • | |
24 | Male | 6 | CS | c.388C>T | p.Arg130X | • | |
25 | Male | 14 | CS | c.208C>G | p.Leu70Val | • | |
26 | Male | 13 | ASD | c.3G>T | p.Met1Ile | ||
27 | Male | 12 | ASD | c.3G>T | p.Met1Ile | ||
28 | Female | 4 | ASD | c.3G>T | p.Met1Ile | ||
29 | Female | 37 | ASD | c.3G>T | p.Met1Ile | ||
30 | Male | 8 | CS/BRRS | c.1003C>T | p.Arg335X | ||
31 | Female | 40 | CS | c.751_752delGG | p.Gly251X | • | |
32 | Female | 51 | CS | c.592_601del | p.Met198LysfsX19 | • | |
33 | Male | 39 | CS/LD | c.634+2T>C | • | • | |
34 | Male | 9 | CS | c.491delA | p.Lys164ArgfsX2 | • | |
35 | Male | 15 | CS | c.26delT | p.Ser10AlafsX14 | • | |
36 | Female | 21 | CS | c.512_513insA | p.Arg172GlufsX8 | • | |
37 | Male | 39 | CS/BRRS | c.376G>C | p.Ala126Pro | • | |
38 | Female | 50 | CS | c.389G>A | p.Arg130Gln | • | |
39 | Male | 56 | CS | c.80-?_1212+?del | |||
40 | Female | 53 | CS | c.323T>C | p.Leu108Pro | ||
41 | Female | 62 | CS/LD | c.1027-2A>G | |||
42 | Male | 12 | BRRS | c.389G>A | p.Arg130Gln | ||
43 | Female | 31 | CS | c.445C>T | p.Gln149X | • | • |
44 | Female | 39 | CS | c.388C>T | p.Arg130X | ||
45 | Female | 13 | CS | c.388C>T | p.Arg130X | ||
46 | Male | 41 | CS | c.1027-1G>A | |||
47 | Male | 8 | BRRS | c.388C>T | p.Arg130X | ||
48 | Female | 40 | BRRS | c.388C>T | p.Arg130X | ||
49 | Male | 6 | BRRS | c.388C>T | p.Arg130X | ||
50 | Female | 41 | CS/LD | c.765dupA | p.Glu256ArgfsX42 | ||
51 | Female | 67 | CS | c.106G>T | p.Gly36X | ||
52 | Female | 14 | CS | c.389G>A | p.Arg130Gln | ||
53 | Male | 50 | LD | c.388C>T | p.Arg130X | • | |
54 | Female | 10 | BRRS | c.930_931delTA | p.Asp310GlufsX2 | ||
55 | Male | 48 | BRRS | c.930_931delTA | p.Asp310GlufsX2 | • | • |
56 | Male | 58 | CS/LD | c.534T>G | p.Tyr178X | ||
57 | Female | 49 | CS | c.493-?_1212+?del | • | ||
58 | Male | 48 | CS | c.593T>A | p.Met198Lys | • | |
59 | Female | 31 | CS | c.73_74delTT | p.Leu25AspfsX17 | • | |
60 | Male | 5 | BRRS | c.445C>T | p.Gln149X | • | |
61 | Male | 50 | BRRS | c.1008C>G | p.Tyr337X | ||
62 | Male | 7 | BRRS | c.540C>A | p.Tyr180X | ||
63 | Female | 24 | CS | c.264T>A | p.Tyr88X | • | |
64 | Female | 30 | CS | c.491delA | p.Lys164ArgfsX3 | • | |
65 | Female | 51 | CS | c.802-2A>G | |||
66 | Female | 30 | CS | c.445C>T | p.Gln149X | ||
67 | Female | 16 | CS | c.80-?_164+?del | |||
68 | Female | 16 | CS | c.1008C>G | p.Tyr337X | ||
69 | Male | 19 | BRRS | c.389G>A | p.Arg130Gln | • | |
70 | Male | 5 | unclassified | c.80-?_1212+?del | • | ||
71 | Male | 58 | CS/LD | c.534T>G | p.Tyr178X | • | • |
72 | Female | 68 | CS | c.334C>G | p.Leu112_Lys164del | • | |
73 | Male | 4 | BRRS | c.404T>A | p.Ile135Lys | ||
74 | Female | 37 | CS | c.1-?_164+?del | |||
75 | Female | 39 | CS | c.141delG | p.Asn48ThrfsX6 | ||
76 | Female | 59 | CS | c.1-?_164+?del | |||
77 | Male | 36 | CS | c.654C>A | p.Cys218X | ||
78 | Male | 47 | CS | c.176C>G | p.Ser59X | ||
79 | Male | 65 | CS | c.640C>T | p.Gln214X |
BRRS, Bannayan-Riley-Ruvalcaba syndrome; CS, Cowden syndrome; LD, Lhermitte-Duclos disease.