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 | - |