Table 2 of Kumar, Mol Vis 2013; 19:2436-2450.
S.No. | Nucleotide Change | Locus | Codon Change | Amino acid Change | Type of Mutation | POLYPHEN/SIFT /Mutation Taster |
---|---|---|---|---|---|---|
1. | g.27021536* | CRYBA4 | ACG>GCG | T84A | NS | 0.823/0.02/PM |
2. | g.27021532* | CRYBA4 | GGC>GGA | G82G | SYN | NA |
3. | g.27021497* | CRYBA4 | CGA>AGA | R71R | SYN | NA |
4. | g.27021485* # | CRYBA4 | TAC>AAC | Y67N | NS | 3.084/0.00/DC |
5. | rs5761637T>A^ | CRYBA4 | TTT>TTC | F57F | SYN | NA |
6. | rs4276A>G^ | CRYBA4 | intronic | NA | NA | NA |
7. | rs73880140C>T^ | CRYBA4 | intronic | NA | NA | NA |
8. | rs2071862G>A^ | CRYBA4 | intronic | NA | NA | NA |
9. | g.G27008082A* # | CRYBB1 | GAC>AAC | D85N | NS | 1.689/ 0.02/DC |
10. | g.G27008112A*# | CRYBB1 | GAA>AAA | E75K | NS | 2.002/0.00/DC |
11. | rs57400078C>A^ | CRYBB1 | intronic | NA | NA | NA |
12. | g. A26997943G*# | CRYBB1 | GAA>AAA | E155K | NS | 2.088/0.00/DC |
13. | g. G25617606A* | CRYBB2 | GAT>AAT | D4N | NS | 0.552/0.49/DC |
14. | g.G25617414A* | CRYBB2 | CAG>CAA | Q6Q | SYN | NA |
15. | c. A178G # | GJA3 | ATG>GTG | M1V | NS | 2.864/0.00/TP |
16. | g.G17475531A* | BFSP1 | GAC>AAC | D395N | NS | 1.398/0.01/PM |
17. | g.G17475444A* | BFSP1 | GAA>AAA | E424K | NS | 0.521/0.92/DC |
18. | rs147241220 A>G^ | BFSP1 | CTA>CTG | L44L | SYN | NA |