Table 2 Rare non-synonymous CLU variants identified in Stage I Flanders-Belgium AD cohort.

Exon 5

c.924G > A

p.A309T

3

0.0018 ⁽¹⁾

β-chain

benign (1.07)

tolerated (0.65)

Exon 6

c.1012C > T

p.R338W

2

0.0012 ⁽²⁾

β-chain

probable (2.37)

not tolerated (0.00)

Exon 6

c.1034C > T

p.T345M

1

0.0006 ⁽²⁾

β-chain

possible (1.56)

tolerated (0.09)

Exon 7

c.1105A > C

p.N369H

rs9331936

2

0.0012

β-chain

possible (1.56)

tolerated (0.15)

Exon 7

c.1138G > A

p.D380N

rs9331938

1

0.0006

β-chain

benign (0.32)

tolerated (0.36)

Exon 7

c.1319C > T

p.T440M

1

0.0006

β-chain

possible (1.75)

not tolerated (0.01)

Exon 8

c.1333_1341del

p.T445_D447

del

3

0.0018 ⁽¹⁾

β-chain

Exon 8

c.1343C > T

p.S448L

rs13494

1

0.0006

β-chain

benign (0.73)

tolerated (0.23)

Exon 8

c.1349T > G

p.V450G

1

0.0006

β-chain

benign (1.42)

tolerated (0.15)

Exon 1

c.48C > A

p.S16R

11

0.0029

(5 AD)

0.0046

(6 C) ⁽³⁾

extra AA isoform 2

benign (1.13)

not tolerated (0.00)

Exon 1

c.111C > A

p.H37Q

4

0.0012

(2 AD)

0.0015

(2 C)

extra AA isoform 2

possible (1.80)

not tolerated (0.00)

Exon 5

c.701G > A

p.R234H

3

0.0012

(2 AD)

0.0008

(1 C) ⁽³⁾

α-chain

possible (1.64)

tolerated (0.15)

Exon 5

c.764C > T

p.T255I

rs4127629

11

0.0029

(5 AD)

0.0046

(6 C)

α-chain

benign (0.31)

tolerated (0.29)

Exon 5

c.965T > C

p.P322L

9

0.0029

(5 AD)

0.0030

(4 C)

β-chain

possible (1.96)

tolerated (0.25)

Exon 7

c.1153G > A

p.V385I

3

0.0006

(1 AD)

0.0015

(2 C)

β-chain

benign (0.15)

tolerated (0.40)

Exon 5

c.703G > A

p.A235T

1

0.0008

α-chain

benign (1.18)

tolerated (0.16)

Exon 5

c.797G > A

p.R266Q

1

0.0008

α-chain

benign (0.27)

tolerated (0.67)

Exon 6

c.994G > A

p.D332N

1

0.0008

β-chain

benign (0.04)

tolerated (0.1)

Exon 7

c.1268G > A

p.R423Q

1

0.0008

β-chain

benign (0.33)

tolerated (0.54)

Exon 7

c.1298A > C

p.Q433P

1

0.0008

β-chain

benign (0.41)

tolerated (0.13)