Table 2 The spectrum of SERPING1 variants in Belarus patients

1

c.5C > T

p.Ala2Val

rs185342631

2

Missense

0.987

2

c.51 + 3A > G

CS053487

2

Splicing

3

c.249delT

p.Asp84Metfs*64

3

Frameshift

1

c.289C > T

p.Gln97S*

CM128686

3

Nonsense

1

c.301C > T

p.Gln101*

3

Nonsense

1

c. 387_388delCT

p. Leu129Leufs131*2

3

Frameshift

1

c.520_524del ATCGC

p.Ile174Glnfs254*81

3

Frameshift

7

c.550 + 2 T > C

rs112666115

3

Splicing

2

c.551-2A > C

rs113574262

4

Splicing

2

c.551-1G > A

4

Splicing

6

c.551-1G > C

4

Splicing

3

del exon 4

4

Large del

2

c.744_745delCA

p.Arg249Serfs*7

5

Frameshift

2

c.890-2A > G

D0077: g.9903 A → G

6

Splicing

1

c.1001A > C

p.His334Pro

6

Missense

0.969

1

c.1037A > C

p.Gln346Pro

7

Missense

0.996

4

c.1058 T > C

p.Leu353Pro

7

Missense

1

2

c.1106delA

p.Asp369Alafs*28

CD033556

7

Frameshift

1

c. 1202 T > C

p.Ile401Thr

7

Missense

0.949

5

c.1293delA

p.Glu432Argfs*18

8

Frameshift

7

c.1396C > T^a

p.Arg466Cys

rs28940870

8

Missense

0.921

3

c.1397G > A^a

p.Arg466His

rs121907948

8

Missense

0.66

5

c.1478G > A

p.Gly493Glu

CM022845

8

Missense

1

1

c.1493C > T

p.Pro498Leu

8

Missense

1