Table 1.
Gene | Total (P/LP/VUS) | Possibly Unique including Novel for the Russian Population and Described Earlier (P/LP/VUS) | Novel (P/LP/VUS) | Described in Other World Populations |
---|---|---|---|---|
LDLR | 187 (38/53/95) * | 67 (11/19/37) | 34 (3/10/21) | 120 (27/34/58) |
APOB | 14 (0/4/10) | 6 (0/1/5) | 6(0/1/5) | 8 (0/3/5) |
PCSK9 | 23 (0/4/19) | 8(0/1/7) | 6 (0/1/5) | 5 (0/3/12) |
Novel: variants found in this study for the first time. Possibly unique for the Russian population: variants found in this study and previously described only for the Russian population. (*)—for one variant it was impossible to determine the category of pathogenicity. However, it was earlier described in the literature as pathogenic.