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Table 3 Rare variants identified in our cohort and associated nomenclature, classification and database frequency

From: Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

No Family Gene Nucleotide Protein Transcript Domain Classification References ExAC ESP
1 TAAD032 FBN1 c.6740-2A>G Splice site NM_000138.4 cbEGF-like Causative This study 0 0
2 TAAD001 FBN1 c.7502_7503insA N2502* NM_000138.4 cbEGF-like Causative This study 0 0
3 TAAD012 FBN1 c.4223G>T C1408F NM_000138.4 cbEGF-like Causative Tiecke et al. [22] 0 0
4 TAAD080 FBN1 c.7754T>C I2585T NM_000138.4 cbEGF-like Causative Liu et al. [48] 0 0
5 TAAD017 FBN1 c.5074_5076delAGA R1692del NM_000138.4 Causative Comeglio et al. [29] 0 0
6 TAAD056 FBN1 c.7916A>G Y2639C NM_000138.4 cbEGF-like Causative Mátyás et al. [34] 0 0
7 TAAD038 FBN1 c.2231G>A G744E NM_000138.4 cbEGF-like Likely causative This study 0 0
8 TAAD153 FBN1 c.2950G>A V984I NM_000138.4 TB5 Causative Grau et al. [38] 0.00005 0
9 TAAD118 TGFBR1 c.605C>T A202 V NM_004612.2 GS Likely causative This study 0 0
10 TAAD026 TGFBR1 c.844T>C Y282H NM_004612.2 Protein kinase Likely causative This study 0.00002 0
11 TAAD048 TGFBR2 c.1579G>A A527T NM_003242.5 Protein kinase Causative Frischmeyer-Guerrerio et al. [40] 0 0
12 TAAD146 SKI c.59C>A T20 K NM_003036.3 R-SMAD binding Causative This study 0 0
13 TAAD045 SMAD3 c.868A>T I290F NM_005902.3 MH2 Likely causative This study 0 0
14 TAAD111 ACTA2 c.80A>G D27G NM_001613.2 Actin family Likely causative This study 0 0
15 TAAD076 ACTA2 c.350A>G N117S NM_001613.2 Actin family Likely causative This study 0 0
16 TAAD024 MYH11 c.5273G>A R1758Q NP_002465.1 Coiled coil Llikely causative Zhu et al. [12] 0.0002 0.00023
17 TAAD103 MYH11 c.5499G>C E1833D NM_002474.2 Coiled coil Likely causative This study 0.0003 0.00054
18 TAAD157 COL3A1 c.2108C>T P703L NM_000090.3 Triple-helical region VUS This study 0 0
19 TAAD097 COL3A1 c.3869T>C I1290T NM_000090.3 NC1 Likely causative This study 0 0
20 TAAD130 MYLK c.608C>T P203L NM_053025.3 Ig-like C2-type 2 VUS This study 0 0
21 TAAD027 MYLK c.1133G>A R378H NM_053025.3 Likely benign This study 0.0001382 0.00008
22 TAAD048 MYLK c.2069C>T T690 M NM_053025.3 Ig-like C2-type 5 Likely benign This study 0.000008 0.00008