Table 1.
KIF11 variants associated with FEVR
Variant (cDNA) | Variant (protein) | Reference |
---|---|---|
c.131_132dup | p.(P45Ifs*92) | Hu et al. [5] |
c.139C>T | p.(R47*) | Robitaille et al. [4] |
c.511C>G | p.(L171V) | Li et al. [6] |
c.652dup | p.(A218Gfs*16) | Robitaille et al. [4] |
c.661A>G | p.(R221G) | Robitaille et al. [4] |
c.790-2A>C | n.a. (splicing variant) | Li et al. [6] |
c.790-1G>T | n.a. (splicing variant) | Robitaille et al. [4] |
c.1408G>T | p.(E470*) | Robitaille et al. [4] |
c.1573C>T | p.(Q525*) | Li et al. [6] |
c.1830_1833del | p.(E610Dfs*3) | Rao et al. [9] |
c.2230C>T | p.(Q744*) | Hu et al. [5] |
c.2524C>T | p.(Q842*) | Li et al. [6] |
c.2717del | p.(L906*) | This manuscript |
c.2807C>G | p.(S936*) | Li et al. [6] |
c.2863C>T | p.(Q955*) | Hu et al. [5] |
c.2952_2955del | p.(Q985Ifs*6) | Hu et al. [5] |
c.3073A>G | p.(R1025G) | Li et al. [6] |