TABLE 1.
Frequency of AP‐4 subunit human genetic variation from 1,000 Genomes and gnomAD in different genic contexts
| AP4E1 | AP4S1 | AP4B1 | AP4M1 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Type | Allele frequency | Variant count | % within type | Variant count | % within type | Variant count | % within type | Variant count | % within type |
| UTR | Common | 6 | 0.8 | 5 | 2.7 | 3 | 3.5 | 4 | 0.7 |
| Rare | 6 | 0.8 | 12 | 6.4 | 3 | 3.5 | 8 | 1.3 | |
| Very rare | 703 | 98.3 | 170 | 90.9 | 79 | 92.9 | 589 | 98.0 | |
| Coding | Common | 1 | 0.5 | 0 | 0.0 | 3 | 0.5 | 0 | 0.0 |
| Rare | 1 | 0.5 | 0 | 0.0 | 1 | 0.2 | 0 | 0.0 | |
| Very rare | 214 | 99.1 | 127 | 100.0 | 568 | 99.3 | 124 | 100.0 | |
| Intron | Common | 237 | 8.3 | 184 | 9.4 | 7 | 1.8 | 11 | 2.1 |
| Rare | 138 | 4.8 | 131 | 6.7 | 8 | 2.1 | 9 | 1.7 | |
| Very rare | 2,485 | 86.9 | 1,650 | 84.0 | 368 | 96.1 | 509 | 96.2 | |
Note: Common variants have allele frequency (AF) > 5%; rare variants have AF <5% and > 1%; and very rare have AF <1%. Variant consequences are defined with respect to transcript annotations from Ensembl.