Table 1 List of the LDL receptor gene mutations found in the current study

C308Y

c.985 G>A

exon 7

FblI

China

2 (2)

L380H (FH Pori)

c.1202 T>A

exon 9

MnlI

Finland

1 (1)

D601N

c.1864 G>A

exon 13

EcoRV

None (New)

1 (2)

C646S

c.1999 T>A

exon 14

SSCP

None (New)

1 (1)

V776M

c.2389 G>A

exon 16

SSCP

China (Hong-Kong), Cuba, South Africa (Afrikaners)

1 (2)

V806I (FH New York-5)

c.2479 G>A

exon 17

The Netherlands, USA

1 (1)

Nonsense-mutations

Q12X (FH Turkey/Milan-4)

c.97 C>T

exon 2

MaeI

Italy, France, Turkey

1 (2)

E207X (FH Morocco)

c.682 G>T

exon 4

MaeI

China, Germany, Korea, Morocco, Norway, Sweden, UK, USA

1 (2)

C249X

c.810 C>A

exon 5

DdeI, Fnu4HI

None (New)

1 (1)

W422X

c.1328 G>A

exon 9

MaeI

None (New)

2 (3)

Splice site mutations

IVS3+1G>A (FH-Elverum/ Olbia)

c.313+1G>A

intron 3

SSCP

Austria, Belgium, Denmark, Germany, Italy, Spain, Korea, Norway, The Netherlands, UK, Sweden, South Africa (black)

2 (3)

IVS9+1G>A

c.1358+1G>A

intron 9

AsuHPI

The Netherlands

1 (1)

Frameshift mutations

FsK202: S205X

c.670-671insG

exon 4

SSCP

None (New)

1 (2)

FsE287: V348X (FH North Karelia)

c.925-931del7

exon 6

SSCP

Finland, Sweden, USA

1 (1)

FsE291: N309X

c.936-940del5

exon 6

SSCP

None (New)

1 (1)

FsV409: S423X

c.1291-1331del41

exon 9

Sizing

None (New)

1 (3)

FsE414: M429X

c.1302delG

exon 9

SSCP

Germany

1 (1)

FsV597: A622X

c.1855-1856insA

exon 13

None (New)

1 (1)

In-frame deletions

G197del

c.651-653del3

exon 4

HA

UK

2 (2)

Neutral mutations

T705I (FH Paris-9)

c.2177 C>T

exon 15

Denmark, France, The Netherlands, UK, USA etc.

1 (1)

Silent mutations

P518P

c.1617 C>T

exon 11

None (New)

1 (1)