Table 2 Number of variants considered deleterious per category for each gene
From: Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
Frameshift** | In-frame insertion/deletion | Splice site** | Start loss | Stop gain** | Stop loss** | Missense** | Total** | |
|---|---|---|---|---|---|---|---|---|
IDUA | 17–18 | 12 | 16–37 | 1 | 10–15 | 0–1 | 86–175 | 142–259 |
IDS | 0 | 1 | 1–2 | 0 | 0 | 0 | 4–28 | 6–31 |
SGSH | 8–14 | 7 | 5–7 | 0 | 4–14 | 0 | 73–194 | 97–236 |
NAGLU | 11–20 | 2 | 6–10 | 1 | 8–16 | 0 | 87–176 | 115–225 |
HGSNAT | 11 | 4 | 22–37 | 0 | 8–9 | 0 | 18–98 | 63–159 |
GNS | 5 | 3 | 14–23 | 0 | 4 | 0–1 | 29–91 | 55–127 |
GALNS | 11 | 7 | 14–26 | 1 | 10–11 | 0–1 | 57–187 | 100–244 |
GLB1* | 12–13 | 3 | 18–34 | 1 | 11–13 | 0 | 67–161 | 112–225 |
ARSB | 9–12 | 5 | 10–18 | 0 | 8–12 | 0 | 48–141 | 80–188 |
GUSB | 11–13 | 6 | 17–27 | 2 | 13–14 | 0–2 | 62–160 | 111–224 |
HYAL1 | 12–13 | 8 | 1–3 | 1 | 8–9 | 0 | 57–107 | 87–141 |
All genes | 107–130 | 58 | 124–224 | 7 | 84–117 | 0–5 | 588–1515 | 968—2059 |