Table 1 Pathogenic DYNC2LI1 mutations in SRPS cohort.
From: Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
Sample ID | Genotype | Mutation | Location | Cons* | Sift | Polyphen | CADD†| rsID | AF‡ |
|---|---|---|---|---|---|---|---|---|---|
R01-013A | 0/1 | c.993+1G>A | Intron 12 | 4.37 | Â | Â | 16.1 | Â | 0.00008 |
| Â | 0/1 | c.349C>G p.Leu117Val | Exon 6 | 3.63 | Deleterious | Probably damaging | 18.6 | rs201948500 | 0.00023 |
R07-628A | 0/1 | c.349C>G p.Leu117Val | Exon 6 | 3.63 | Deleterious | Probably damaging | 18.6 | rs201948500 | 0.00023 |
| Â | 0/1 | c.372G>A p.Trp124Ter | Exon 6 | 4.46 | Â | Â | 26.5 | Â | Â |
R03-303A | 0/1 | c.1000G>T p.Glu334Ter | Exon 13 | 4.55 | Â | Â | 38.0 | Â | Â |
| Â | 0/1 | c.993+3A>G | Intron 12 | 4.37 | Â | Â | 10.8 | Â | Â |
