Table 2 Pathogenic FH mutations and variants of uncertain clinical significance (VUCS) found in Generation Scotland subjects

Pathogenic mutations

1

51

F

12.0

High cholesterol

APOB

c.10580G > A

p.Arg3527Gln

Probably damaging

Deleterious

Polymorphism

1

2

44

F

8.9

LDLR

c.693C > G

p.Cys231Trp

Probably damaging

Deleterious

Disease causing

1

3

36

M

7.0

LDLR

c.268G > A

p.Asp90Asn

Probably damaging

Deleterious

Disease causing

1

4

61

F

8.3

LDLR

c.718G > A

p.Glu240Lys

Possibly damaging

Deleterious

Disease causing

1

5

56

M

5.9

Cholesterol-therapy

APOB

c.10580G > A

p.Arg3527Gln

Probably damaging

Deleterious

Polymorphism

1

6

57

M

5.7

LDLR

c.326G > A

p.Cys109Tyr

Probably damaging

Deleterious

Disease causing

1

7

50

M

5.9

LDLR

c.1133A > C

p.Gln378Pro

Probably damaging

Deleterious

Polymorphism

1

8

71

F

5.5

LDLR

c.232C > T

p.Arg78Cys

Probably damaging

Tolerated

Disease causing

1

9

60

F

6.2

LDLR

c.1586-?_1845 + ?dup

Not applicable

Not applicable

Not applicable

1

(Exon 11 and 12 duplication)

10

32

F

7.7

High cholesterol

PCSK9

c.274G > A^a

p.Glu92Lys

Benign

Tolerated

Polymorphism

1

11

31

M

8.7

LDLR

c.-121 T > C

Not applicable

Not applicable

Not applicable

Polymorphism

1

12

54

F

8.2

LDLR

c.1816G > T

p.Ala606Ser

Possibly damaging

Tolerated

Disease causing

1

13

63

M

5.5

Cholesterol-therapy

LDLR

c.2294 T > G^a

p.Val765Gly

Benign

Tolerated

Polymorphism

2^b

14

61

M

7.0

15

36

M

6.0

LDLR

c.2479G > A

p.Val827Ile

Probably damaging

Deleterious

Disease causing

1