Table 6.
Gene | Total missense variants | Missense variants predicted deleteriousa | Number of stop gained variants |
---|---|---|---|
FBN1 | 27 | 20 | 2 |
FBN2 | 8 | 6 | 1 |
FBN3 | 84 | 75 | 1 |
Derived from http://www.ensemble.org, accessed August 2023. Full list is available in Supplementary Table 1.
a Predicted by the Sorting Intolerant from Tolerant (SIFT) algorithm (Ng and Henikoff 2003).