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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

From: FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

  HGVS_ca HGVS_pa dbSNPb MAF in ExACc # Carriers PolyPhen-2 CADD
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 . .
  1. aVariant nomenclature based on transcript sequence (NM_020937.3), + 1 as A of ATG start codon, according to the Human Genome Variation Society (HGVS), HGVS_c for coding DNA and HGVS_p for protein variants
  2. bdbSNP 138
  3. cMinor Allele Frequency (MAF) in ExAC Non-Finnish European population [17]
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