Table 2 Summary of the variants harboured by TAAD patients

Negative for missense variants

22

21.8%

Positive for missense variants

79

78.2%

Number of variants identified in total:

Variant related to genetic code

Missense SNV (no. of variants)

71

Frameshift (no. of variants)

2

Nonsense (no. of variants)

2

Variant related to polymorphism type

SNP (no. of variants)

71

Insertion (no. of variants)

1

Deletion (no. of variants)

5