Variant ID

Nucleotide

change

Exon

Amino acid

change

Clinical

significance

Control screened

Ethnicity

References

rs121918275

c.14T > C

1

L5P

pathogenic

106

Italian

Jen et al., 2004

rs121918276

c.196A > C

2

I66L

pathogenic

175

Greek

Jen et al., 2004

rs121918274

c.955G > A

6

E319K

pathogenic

197

Greek

Jen et al., 2004

rs121918271

c.2108G > C

14

R703P

pathogenic

150

Turkish

Jen et al., 2004

rs121918272

c.2113T > C

14

S705P

pathogenic

116

Saudi

Jen et al., 2004

rs121918270

c.1082G > A

7

G361E

pathogenic

95

Indian

Jen et al., 2004

rs121918273

c.1366G > T

9

G456X

pathogenic

95

Turkish

Jen et al., 2004

CI041652

c.2310 + 1C

15

frameshift

pathogenic

106

Pakistani

Jen et al., 2004

CI041653

c.3325 + 1G

23

frameshift

pathogenic

116

Saudi

Jen et al., 2004

CS041545

c.IVS13 + 1G > A

13

frameshift

pathogenic

93

Saudi

Jen et al., 2004

rs121918277

c.733C > T

4

R245W

pathogenic

87

Irish/English

Chan et al., 2006

rs121918278

c.2317C > T

15

Q773X

pathogenic

87

Irish/English

Chan et al., 2006

CD061464

c.1886_1887delTT

12

frameshift

pathogenic

87

Irish/German

Chan et al., 2006

CD061465

c.1844_1845delCA

12

frameshift

pathogenic

87

Irish/German

Chan et al., 2006