Table A3.
List of the APOB variants described in Russian patients.
| Number of Index Patients 1 | Exon | DNA Change | Protein Change | dbSNP ID | gnomAD MAF (v. 2.1.1) | ACMG Interpretation | ClinVar Interpretation | Clinvar ID | References |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 26 | c.4298C > T | p.Ser1433Leu | rs200708197 | 7.583 × 105 | VUCS | VUS | 630306 | |
| 1 | 26 | c.4709T > C | p.Leu1570Ser | VUCS | |||||
| 1 | 26 | c.7057C > T | p.Gln2353Ter | LP | |||||
| 1 | 26 | c.10385A > G | p.Tyr3462Cys | VUCS | |||||
| 1 | 26 | c.10579C > T | p.Arg3527Trp | rs144467873 | 0.0001595 | LP | P/LP | 40223 | |
| 23 | 26 | c.10580G > A | p.Arg3527Gln | rs5742904 | 0.0002942 | LP | P/LP | 17890 | [9,35,36] |
| 1 | 26 | c.10672C > T | p.Arg3558Cys | VUCS | |||||
| 3 | 26 | c.10708C > T | p.His3570Tyr | rs201736972 | VUCS | ||||
| 1 | 26 | c.11477C > T | p.Thr3826Met | rs61744153 | 0.001592 | VUCS | LP/VUS/LB/B | 237735 | |
| 1 | 28 | c.11911G > A | p.Glu3971Lys | VUCS | |||||
| 0 | 28 | c.12005C > T | p.Ala4002Val | rs369364335 | 1.195 × 105 | VUCS | VUS | 898076 | [32] |
| 1 | 29 | c.12739C > T | p.Gln4247Ter | rs907126709 | LP | VUS | 544074 | ||
| 1 | 29 | c.13175G > A | p.Ser4392Asn | VUCS | |||||
| 1 | 29 | c.13480_13482del | p.Gln4494del | rs756545438 | VUCS | LP/VUS | 265896 |
1 Only for variants found in this study a number of index patients is given. Variants from systematic review are labelled with “0”.