Table 1 Filtering strategy of the patient
From: Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection
Filtering criteria | Number of variants |
|---|---|
Total number of variants | 169,956 |
Missense, nonsense, splice-site or frameshifit variants | 10,363 |
MAF < 1% in the 1000G, ESP, ExAC | 520 |
Absence in our in-house databases | 245 |
Prediction in silico (SIFT, Polyphen2, MutationTaste) | 61 |
CADD score > 15 | 47 |