Table 3. Exome sequencing variants in previously implicated BBS genes
Family A |
Chr |
Reads |
Var reads |
% var |
SNP id |
Freq |
Gene |
AA changes |
mRNA changes |
phyloP |
GS |
11 |
2 |
2 |
100 |
- |
- |
BBS1 |
- |
c.47+1G>T |
3.03 |
- |
16 |
109 |
106 |
97 |
rs4784677 |
97.09 |
BBS2 |
p.(Ser70Asn) |
c.209C>T |
2.50 |
46 |
16 |
119 |
46 |
39 |
rs11373 |
28.48 |
BBS2 |
p.(Ile123Val) |
c.367T>C |
0.23 |
29 |
15 |
45 |
44 |
98 |
rs8033604 |
76.70 |
BBS4 |
- |
c.77–6 G>A |
−3.73 |
- |
15 |
103 |
103 |
100 |
rs12914333 |
99.35 |
BBS4 |
p.(Phe302Phe) |
c.906T>C |
−0.58 |
- |
15 |
20 |
20 |
100 |
rs2277598 |
78.64 |
BBS4 |
p.(Ile354Thr) |
c.1061T>C |
−0.39 |
89 |
4 |
68 |
22 |
32 |
rs1507994 |
12.94 |
BBS7 |
- |
c.1890+16G>A |
−0.92 |
- |
7 |
87 |
27 |
31 |
rs11773504 |
35.92 |
BBS9 |
p.(Ala455Thr) |
c.1363G>A |
0.31 |
58 |
4 |
41 |
23 |
56 |
rs309370 |
51.46 |
BBS12 |
p.(Arg386Gln) |
c.1157G>A |
−0.34 |
43 |
4 |
99 |
62 |
63 |
rs13102440 |
36.57 |
BBS12 |
p.(Gln624Gln) |
c.1872A>G |
−0.05 |
- |
Family B |
Chr |
Reads |
Var reads |
% var |
SNP id |
Freq |
Gene |
AA changes |
mRNA changes |
phyloP |
GS |
chr11 |
51 |
51 |
100 |
- |
- |
BBS1 |
p.(Asp148Asn) |
c.442G>A |
3.54 |
23 |
chr16 |
92 |
92 |
100 |
rs4784677 |
97.02 |
BBS2 |
p.(Ser70Asn) |
c.209C>T |
2.50 |
46 |
chr15 |
73 |
72 |
99 |
rs12914333 |
99.19 |
BBS4 |
p.(Phe302Phe) |
c.906T>C |
−0.51 |
- |
chr15 |
31 |
13 |
42 |
rs2277598 |
76.42 |
BBS4 |
p.(Ile354Thr) |
c.1061T>C |
−0.32 |
89 |
chr4 |
49 |
47 |
96 |
rs309370 |
52.85 |
BBS12 |
p.(Arg386Gln) |
c.1157G>A |
−0.32 |
43 |
chr4 |
50 |
15 |
30 |
rs13135766 |
29.27 |
BBS12 |
p.(Val460Val) |
c.1380G>C |
1.66 |
- |
chr4 |
62 |
28 |
45 |
rs13135445 |
34.96 |
BBS12 |
p.(Cys470Cys) |
c.1410C>T |
−0.39 |
- |
chr4 |
84 |
36 |
43 |
rs13102440 |
36.86 |
BBS12 |
p.(Gln624Gln) |
c.1872A>G |
0.01 |
- |