Table 2.
Polymorphisms and Variants Observed in BBS Genes
| Gene andNucleotide Variation | Protein Change |
| BBS1: | |
| G379A | L126L |
| IVS6+55 C→T | |
| C684T | L228L |
| IVS8−8 G→C | |
| C1413T | L471L |
| IVS17+7 G→A | |
| BBS2: | |
| A367G | I123V |
| IVS5−54 G→C | |
| IVS6−34 C→T | |
| A1413C | V471V |
| BBS3: | |
| IVS4−18 T→C | |
| IVS5−49 A→G | |
| IVS8+75 A→G | |
| IVS8+80 A→G | |
| IVS8+82–86 del5 | |
| BBS4: | |
| IVS1−17 C→T | |
| IVS1−38 C→A | |
| IVS2+19 G→T | |
| IVS2−6 A→G | |
| A137G | K46R |
| A180G | Q60Q |
| IVS6+7 C→T | |
| IVS7+23 G→C | |
| IVS10−17 G→C | |
| C1061T | T354I |
| BBS5: | |
| IVS1−40 G→C | |
| BBS6: | |
| C117T | P39P |
| C534T | I178I |
| IVS3+17 A→C | |
| IVS3+34 C→G | |
| G1595T | G532V |
| C1549T | R517C |
| BBS7: | |
| −133 C→G | |
| IVS3−45 C→T | |
| IVS9+32 A→G | |
| IVS9+32–34del4 | |
| IVS14+24 C→A | |
| IVS17+16 G→A | |
| IVS17−12 C→A | |
| BBS8: | |
| IVS3+18 A→G | |
| IVS3+48 T→C | |
| IVS6+67 A→G | |
| IVS14−12 C→G |