Table 1 CYP27A1 gnomAD variants
From: Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
Variant type | All N (%) | ClinV-P N (%) | SeqCon-P N (%) | Revel-P N (%) | Model N (%) |
|---|---|---|---|---|---|
Missense | 344 (39.8) | 13 (3.8) | – | 28 (8.1) | 41 (11.9) |
Intron | 232 (26.9) | – | – | – | – |
Synonymous | 139 (16.1) | – | – | – | – |
Splice_region | 35 (4.1) | – | – | – | – |
Frameshift | 31 (3.6) | 12 (38.7) | 17 (54.8) | – | 29 (93.5) |
Stop_gained | 23 (2.7) | 11 (47.8) | 10 (43.5) | – | 21 (91.3) |
5_prime_UTR | 20 (2.3) | – | – | – | – |
3_prime_UTR | 18 (2.1) | – | – | – | – |
Splice_donor | 8 (0.9) | 5 (62.5) | 3 (37.5) | – | 8 (100) |
Inframe_deletion | 4 (0.5) | – | – | – | 0 (0. 0) |
Splice_acceptor | 4 (0.5) | 3 (75.0) | 1 (25.0) | – | 4 (100) |
Start_lost | 3 (0.3) | – | 3 (100) | – | 3 (100) |
Inframe_insertion | 2 (0.2) | – | – | – | – |
Stop_retained | 1 (0.1) | – | – | – | – |
Total | 864 (100) | 44 (5.1) | 34 (3.9) | 28 (3.2) | 106 (12.3) |