Table 2.
Variants in the gene SERPING1, detected in the HAEKA study participants as per 07.10.2020
| Variant | Frequency | Literature |
|---|---|---|
| c.1450C > T | 3 | [20] |
| c.686-3C > G | 1 | [21] |
| c.52-1G > A | 1 | [22] |
| Heterozygous deletion encompassing exons 3–4 | 2 | [23] |
| c.550G > A | 3 | [24] |
| c.1346 T > G | 1 | [25] |
| c.358_377dup | 1 | [22] |
| c.551-2A > G | 1 | [22] |
| c.896G > A | 1 | [25] |
| c.1250-2A > G | 2 | [22] |
| c.329_341del | 2 | [22] |
| c.1480C > T | 3 | [26] |
| Heterozygous deletion encompassing exon 8 | 2 | [22] |
| c.1250-1G > A | 1 | [27] |
| Heterozygous deletion encompassing exons 5–6 | 1 | [28] |
| Heterozygous deletion encompassing exons 1–6 | 1 | [29] |
| c.1396C > G | 1 | [22] |
| c.1372G > A | 1 | [30] |
| c.51 + 3A > G | 2 | [21] |
| c.467C > A | 1 | [22] |
| c.1397G > A | 4 | [31] |
| c.1030-1G > C | 1 | [26] |
| c.1408dup | 1 | [32] |
| c.1333_1336delACAG | 1 | [32] |
| c.1263_1264dup | 1 | [32] |
| c.1478G > T | 2 | [32] |
| Total | 41 |
All variants are classified as Class 1—pathogenic and are heterozygous