Table 3 Summary of patients with the variants
101 individuals with | Â |
|---|---|
Variants identified with an MAF > 0.1% | 23 |
Variants identified with an MAF < 0.1% | 56 |
Pathogenic | 5 |
FBN1 | 3 |
MYLK | 1 |
SMAD3 | 1 |
Likely pathogenic | 1 |
MYH11 | 1 |
Uncertain significance | 49 |
ACTA2 | 2 |
COL1A1 | 2 |
COL1A2 | 1 |
COL5A1 | 5 |
COL5A2 | 1 |
ELN | 2 |
FBN1 | 14 |
FBN2 | 3 |
MYH11 | 7 |
MYLK | 8 |
NOTCH1 | 5 |
SKI | 3 |
SLC1A10 | 2 |
SMAD3 | 6 |
TGFBR1 | 3 |