Table 3.
Small deletions/insertions/delins identified in the SERPING1 gene.
| Affected exon | cDNA position | Protein position | Number of affected families | Number of affected patients | References |
|---|---|---|---|---|---|
| 3 | c.106_107del | p.Ser36Phefs*21 | 1 | 2 | (28) |
| 3 | c.249del | p.Asp84Metfs*64 | 1 | 1 | (31) |
| 3 | c.392_393del | p.Ser131* | 1 | 1 | (24) |
| 3 | c.435_476del | p.Leu146_Ala159del | 4 | 26 | (24) |
| 5 | c.705del | p.Phe236Leufs*2 | 1 | 4 | (3) |
| 5 | c.797_800delinsCTTGGAGCTCAAGAACTTGGAGCT | p.Val266Alafs*20 | 1 | 1 | - |
| 5 | c.812dup | p.Asn271Lysfs*34 | 1 | 1 | - |
| 6 | c.982del | p.Lys328Argfs*13 | 1 | 1 | (32) |
| 7 | c.1106del | p.Asn369Alafs*28 | 1 | 5 | (24) |
| 7 | c.1127dup | p.Ser377Phefs*48 | 1 | 1 | (33) |
| 7 | c.1147dup | p.Met383Asnfs*42 | 1 | 2 | (3) |
| 8 | c.1356_1357del | p.Val454Glyfs*18 | 1 | 2 | (33) |
| 8 | c.1357_1382dup | p.Ile462Glyfs*123 | 1 | 1 | (24) |
| 8 | c.1391_1392del | p.Val464Glyfs*8 | 1 | 3 | (33) |
| 8 | c.1466del | p.Pro489Leufs*87 | 1 | 2 | (33) |