Table 2 FANCM variants identified by Hi-Plex targeted-sequencing, in 427 women affected with breast or ovarian cancer in South-West Poland and West Ukraine

Nonsense mutation

c.1972C > T

p.Arg658*

rs368728266

0.0001

1

.

.

Frameshifting mutation

c.1491dup

p.Gln498Thrfs*7

.

4.594e-05

2

.

.

Missense substitutions

c.229A > G

c.524C > T

c.527C > T

c.624A > G

c.1576C > G

c.1964A > G

c.2632G > T

c.2859A > C

c.3173A > G

c.3296G > A

c.3407 T > C

c.3758A > G

c.3902A > T

c.3935 T > C

c.4184G > T

c.4378A > G

c.4465G > A

c.4627C > T

c.4799C > T

c.4934G > A

c.5003 T > G

c.5224A > G

c.5434C > G

c.5627A > G

p.T77A

p.S175F

p.T176I

p.I208M

p.L526 V

p.N655S

p.V878 L

p.K953 N

p.N1058S

p.R1099H

p.L1136S

p.N1253S

p.D1301V

p.L1312P

p.G1395 V

p.I1460V

p.G1489R

p.L1543F

p.T1600I

p.R1645H

p.I1668S

p.I1742V

p.P1812A

p.N1876S

rs61746895

rs10138997

rs77374493

rs45547534

rs144215747

rs61753893

rs1367580

rs142864437

.

rs139382267

.

rs45604036

.

rs200028975

.

rs78211950

rs183784665

rs139536545

rs61746943

.

.

rs143662421

rs3736772

rs45557033

0.013

0.062

0.0056

0.015

0.0011

0.01

0.12

0.0018

0

0.0003

0

0.03

.

0.0001

.

0.11

.

0.0005

0.027

0

.

0.012

0.11

0.029

6

22

2

6

2

6

47

1

1

1

1

20

1

1

1

7

1

2

19

1

1

8

43

20

B

B

B

D

B

B

B

D

B

B

D

B

B

B

B

B

B

D

P

B

D

B

B

B

2.724

10.68

10.31

18.2

13.05

11.72

0

14.93

0.053

0.003

15.54

0.52

7.048

8.403

1.149

0.01

2.925

11.61

16.1

9.018

20.8

0.102

9.077

8.271

Synonymous substitutions

c.459 T > C

c.3309C > T

c.4161 T > C

c.5598G > A

c.6141 T > C

p.A153A

p.H1103H

p.S1387S

p.R1866R

p.D2047D

.

.

1

.

.

.

.

1

.

.

.

.

2

.

.

.

.

1

.

.

rs8018014

0.013

9

.

.