Table 4 The variant frequency of the detected genes in CHD patients with heterotaxy.

DNAH11

Stop-gain

c.G2406A

p.W802X

5031

14/84 (16.7%)

Missense

c.G846C

p.M282I

5031

Missense

c.C10379A

p.T3460K

5045

Missense

c.G13273A

p.G4425S

5045

Missense

c.G1339A

p.G447R

5065

Missense

c.T3470G

p.L1157R

5065

Missense

c.T6785C

p.I2262T

5130

Missense

c.G11398C

p.D3800H

5130

Frameshift

c.5470dupC

p.S1823fs

5707

Missense

c.T8275C

p.F2759L

5707

Stop-gain

C13183T

p.R4395X

5707

Missense

c.A10829T

p.D3610V

5062

Missense

c.A727G

p.I243V

5062

Missense

c.C6983T

p.P2328L

5033

HYDIN

Missense

c.A9022C

p.N3008H

5033

5/84 (6%)

Missense

c.G3252A

p.V1085M

5055

Missense

c.C2503T

p.H835Y

5062

Missense

c.C8905T

p.R2969W

5133

Missense

c.C7492T

p.R2498C

5176

DNAH8

Missense

c.G12721A

p. A4241T

5030

5/84 (6%)

Missense

c.G6730A

p.V2244I

5040

Missense

c.C4690T

p.P1564S

5071, 5145

Missense

c.A12517G

p.M4173V

5176

DNAH5

Missense

c.G13364T

p.G4455V

5032

4/84 (4.8%)

Missense

c.A3086T

p.D1029V

5043

Missense

c.G12212A

p.R4071H

5053

Missense

c.A10169G

p.D3390G

5063

SPAG1

Missense

c.G225T

p.L75F

5030

1/84 (1.2%)

ARMC4

Missense

c.C1679T

p.A560V

5071

1/84 (1.2%)

CCDC40

Missense

c.C1669T

p.R557W

5064

1/84 (1.2%)

CCDC65

Missense

c.A881G

p.K294R

5130

1/84 (1.2%)

DHAH8

Missense

c.C4690T

p.P1564S

5145

1/84 (1.2%)

DNAAF2

Missense

c.C1753T

p.P585S

5130

1/84 (1.2%)

DRC1

Missense

c. G350A

p. R117H

5030

1/84 (1.2%)