Distribution and relative frequency of common mutations (occurring in >2 patients) in 253 UK patients with familial hypercholesterolaemia with detected mutations
| Mutation | Mutation (old name) | n (%)* |
|---|---|---|
| *Percentage of all detected LDLR mutations. | ||
| Mutations were designated according to http://www.hgvs.org/mutnomen/. | ||
| i3 splice donor c.313+1 G→A | 313+1 G→A | 27 (11.4) |
| p.E101K | p.E80K | 21 (8.9) |
| p.P685L | p.P664L | 16 (6.8) |
| p.G218del | p.G197del | 12 (5.1) |
| Del exon 2–6 | 11 (4.7) | |
| APOB–p.R3500Q | APOB–p.R3500Q | 10 |
| p.R350X | p.R329X | 9 (3.8) |
| PCSK9 – p.D374Y | PCSK9–p.D374Y | 7 |
| p.E228X | p.E207X | 7 (3.0) |
| p.Q384X/p.D386E | p.Q363X/p.D365E | 7 (3.0) |
| p.D221G | p.D200G | 5 (2.1) |
| p.D482H | p.D461H | 5 (2.1) |
| p.C89Y | p.C68Y | 4 (1.7) |
| p.D227fs | p.D206fs | 4 (1.7) |
| Del exon 5 | 4 (1.7) | |
| p.D221N | p.D200N | 3 (1.3) |
| p.C313X | p.C292X | 3 (1.3) |
| p.C358Y | p.C337Y | 3 (1.3) |
| p.G374fs | p.G353fs | 3 (1.3) |
| p.L479P | p.L458P | 3 (1.3) |
| p.C677R | p.C656R | 3 (1.3) |
| p.I687fs | p.I666fs | 3 (1.3) |
| Del exon 7 | 3 (1.3) | |
| ⩽2 | 80 | |