Table 3 of Ajmal, Mol Vis 2013; 19:644-653.


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 -