Disease-causing variants in the UK Biobank with associated disease types and reported ranges of enzyme activity from clinical populations and in vitro studies
| Variant | Protein change | N in biobank | gnomAD freq (MAF) | Exon | Disease type | Enzyme activity |
| (% WT) | ||||||
| c.644A>G | p.N215S | 18 (1/11 147) | 1/183 422 | 5 | Late onset | 5–39.5 (18–21) |
| c.1087C>T | p.R363C | 6 (1/33 461) | 2/183 376 | 7 | Late onset | 7.5 (21) |
| c.1067G>A | p.R356Q | 4 (1/50 161) | 2/183 292 | 7 | Late onset | 12.9–86.9 (8, 19–22) |
| c.335G>A | p.R112H | 2 (1/100 322) | 3/183 240 | 2 | Late onset | <5 (19) |
| c.902G>A | p.R301Q | 2 (1/100 322) | Not seen | 6 | Both described | 3–5.6 (20–22) |
| c.593T>C | p.I198T | 2 (1/100 322) | 2/18 1907 | 4 | Late onset | 10–64.7 (20, 21, 25) |
| c.718_719del | p.K240fs | 1 (1/200 643) | Not seen | 5 | Classic | 0.5–2.5 (24, 26) |
| c.695T>C | p.I232T | 1 (1/200 643) | Not seen | 5 | Late onset | 7.2–15 (19–22, 27) |
MAF, minor allele frequency; WT, wild type.