Table 2 The at risk of couples and female

AR

56

5.34^a

DFNB1A

27

GJB2

c.109G > A, c.109G > A

2.55^a

10

c.235delC, c.109G > A

2

c.235delC, c.235delC

1

c.109G > A, c.139G > T

1

c.583A > G, c.109G > A

1

c.508_511dupAACG, c.235delC

α-thalassemia

1

HBA1/2

-alpha 3.7, -alpha 3.7

0.38^a

2

-SEA, -alpha 3.7

1

-alpha 3.7, -SEA

PCD

1

SLC22A5

c.1195C > T, c.760C > T

0.19^a

1

c.1400C > G, c.1195C > T

Phenylketonuria

1

PAH

c.472C > T, c.1174 T > A

0.19^a

1

c.721C > T, c.721C > T

OCA

1

OCA2

c.2359G > A, c.1426A > G

0.09^a

SMA

1

SMN1

EX7 DEL, EX7 DEL

0.09^a

Joubert syndrome

1

CC2D2A

c.2848C > T, c.4583G > A

0.09^a

HLH

1

PRF1

c.65delC, c.1228C > T

0.09^a

LGMD

1

DYSF

c.895G > A, c.2875C > T

0.09^a

BH4D

1

PTS

c.155A > G, c.186 + 1G > A

0.09^a

XL

9

0.37^b

DMD

1

DMD

EX45_51DEL

0.25^b

1

c.8547 + 2 T > G

1

EX45_51DEL

1

EX1_4DUP

1

c.2776C > T

1

c.1615C > T

MPS II

1

IDS

c.200 T > G

0.08^b

1

c.459delG

Haemophilia B

1

F9

c.316G > A

0.04^b