Table 2 Variants in the gene SERPING1, detected in the HAEKA study participants as per 07.10.2020

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