ID | Age | MUTATIONS | Phenotype | Age | VUS | Phenotype | |||
---|---|---|---|---|---|---|---|---|---|
Nucleotide change | Protein change | Nucleotide change | Protein change | ||||||
FBN1 | 1 | 27 | c.1879C > T [29] | p.(Arg627Cys) | S H-TAD | 11 | c.860A > G* | p.Glu287Gly | NS H-TAD |
2 | 1 | c.3601 T > C* | p.(Cys1201Arg) | S H-TAD | 16 | c.2819G > T* | p.Gly940Val | S H-TAD | |
3 | 3 | c.4459 + 1G > C* | / | S H-TAD | 56 | c.3748G > T* | p.Asp1250Tyr | NS H-TAD | |
4 | 54 | c.5377 T > A* | p.(Cys1793Ser) | S H-TAD | 32 | c.4347G > T* | p.Glu1449Asp | NS H-TAD | |
5 | 1 | c.5558G > C* | p.(Cys1853Ser) | S H-TAD | 47 | c.7379A > G [30] | p.Lys2460Arg | NS H-TAD | |
6 | 23 | c.6496 + 1 G > A* | / | S H-TAD | 39 | c.7412C > G* | p.Pro2471Arg | NS H-TAD | |
7 | 34 | c.6952 T > C [29] | p.(Cys2318Arg) | NS H-TAD | |||||
8 | 52 | c.7486 T > A* | p.(Cys2496Ser) | NS H-TAD | |||||
9 | 54 | c.7486 T > A* | p.(Cys2496Ser) | NS H-TAD | |||||
10 | 40 | p.(Gly2618Arg) | TAD - SS a/o EL? | ||||||
11 | 16 | c.8536G > T* | p.(Glu2846X) | S H-TAD | |||||
12 | 8 | c.8544dupA* | p.(Tyr2849IlefsX2) | S H-TAD | |||||
TGFBR1 | 13 | 23 | c.683_685delAAG [34] | p.(Glu228del) | S H-TAD | ||||
TGFBR2 | 14 | 39 | c.1084C > A* | p.(His362Asn) | S H-TAD | ||||
15 | 81 | c.1379G > A [35] | p.(Arg460His) | NS DAD | |||||
TGFB2 | 16 | 27 | c.577C > T* | p.(Arg193Trp) | S H-TAD | ||||
17 | 48 | c.980G > A [9] | p.(Arg327Gln) | S H-TAD | |||||
18 | 3 | c.988C > T [10] | p.(Arg330Cys) | S H-TAD | |||||
SMAD3 | 19 | 20 | c.401-6G > A [36] | / | S H-TAD | ||||
20 | 53 | c.546delT* | p.(Gly183AlafsX3) | S H-TAD | |||||
21 | 24 | c.584_585insTC* | p.(Gln195HisfsX3) | S H-TAD | |||||
22 | 24 | c.715G > A [37] | p.(Glu239Lys) | S H-TAD | |||||
23 | 53 | c.715G > A [37] | p.(Glu239Lys) | S H-TAD | |||||
24 | 23 | c.715G > A [37] | p.(Glu239Lys) | S H-TAD | |||||
25 | 14 | c.859C > T [13] | p.(Arg287Trp) | S H-TAD | |||||
26 | 32 | c.887 T > C* | p.(Leu296Pro) | S H-TAD | |||||
27 | 20 | c.1155-2A > G* | / | S H-TAD | |||||
ACTA2 | 28 | 61 | p.(Arg39Cys) | NS H-TAD | |||||
29 | 17 | c.455C > T [18] | p.(Arg149Cys) | NS H-TAD | |||||
30 | 59 | c.772C > T [25] | p.(Arg258Cys) | NS H-TAD | |||||
31 | 32 | c.910G > A [38] | p.(Gly304Ser) | NS H-TAD | |||||
COL3A1 | 32 | 40 | c.3410G > A [39] | p.(Gly1137Asp) | NS DAD | ||||
33 | 43 | c.719G > T* | p.(Gly240Val) | NS H-TAD | |||||
34 | 35 | c.811 C > T* | p.(Arg271X) | S-H-TAD |