Table 2 of
Rothschild, Mol Vis 2013; 19:2040-2049. Table 2 of
Rothschild, Mol Vis 2013; 19:2040-2049.
Table 2. Summary of nucleotide variations identified
| Gene symbol | cDNA position | Inheritance | Gene region | Exon | Translation impact | Ref dbSNP |
|---|---|---|---|---|---|---|
| FZD4 | c.*4664T>C | Homo | 3′ UTR | 2 | rs713065 | |
| FZD4 | c.*2971T>C | Hetero | 3′ UTR | 2 | rs10898563 | |
| FZD4 | c.*1572G>C | Homo | 3′ UTR | 2 | rs4944641 | |
| FZD4 | c.*1298C>T | Homo | 3′ UTR | 2 | rs3802892 | |
| LRP5 | c.687–48A>T | Homo | intronic | 4 | rs10791978 | |
| LRP5 | c.884–4T>C | Homo | intronic | 5 | rs314776 | |
| LRP5 | c.1412+8G>A | Hetero | intronic | 6 | rs4988319 | |
| LRP5 | c.1647T>C | Homo | exonic | 8 | p.F549F | rs545382 |
| LRP5 | c.2220C>T | Hetero | exonic | 10 | p.N740N | rs2306862 |
| LRP5 | c.2503+78A>G | Hetero | intronic | 11 | rs689179 | |
| LRP5 | c.3237–52T>G | Hetero | intronic | 15 | rs554734 | |
| LRP5 | c.3357G>A | Hetero | exonic | 15 | p.V1119V | rs556442 |
| LRP5 | c.3638–82C>T | Hetero | intronic | 17 | rs607887 | |
| LRP5 | c.3989C>T | Hetero | exonic | 18 | p.A1330V | rs3736228 |
| TSPAN12 | c.*39C>T | Homo | 3′ UTR | 8 | rs41622 | |
| TSPAN12 | c.765G>T | Homo | exonic | 8 | p.P255P | rs41623 |
| VCAN | c.348T>C | Hetero | exonic | 3 | p.T116T | rs12332199 |
| VCAN | c.645A>G | Hetero | exonic | 5 | p.V215V | rs4470745 |
| VCAN | c.4004–6T>A | Hetero | intronic | 8 | - | |
| VCAN | c.4323G>A | Homo | exonic | 8 | p.Q1441Q | rs2548541 |
| VCAN | c.4547A>G | Homo | exonic | 8 | p.K1516R | rs309559 |
| VCAN | c.5477G>A | Homo | exonic | 8 | p.R1826H | rs188703 |
| VCAN | c.5808T>C | Homo | exonic | 8 | p.G1936G | rs309557 |
| VCAN | c.6723A>G | Homo | exonic | 8 | p.R2241R | rs160279 |
| VCAN | c.6902T>A | Homo | exonic | 8 | p.F2301Y | rs160278 |
| VCAN | c.8809G>T | Homo | exonic | 8 | p.D2937Y | rs160277 |
| VCAN | c.9075G>A | Hetero | exonic | 8 | p.T3025T | rs113014073 |
| VCAN | c.9266–97C>A | Hetero | intronic | 9 | rs148382459 | |
| VCAN | c.9494–63T>A | Hetero | intronic | 11 | rs6873404 | |
| VCAN | c.9882C>T | Homo | exonic | 14 | p.V3294V | rs308365 |
| COL2A1 | c.2301+72C>T | Hetero | intronic | 34 | rs12811832 | |
| COL2A1 | c.2050–49G>T | Hetero | intronic | 32 | rs11168338 | |
| COL2A1 | c.1527+88T>C | Hetero | intronic | 23 | rs1635544 | |
| COL2A1 | c.1023+108T>C | Hetero | intronic | 16 | rs1635534 | |
| COL2A1 | c.1023+84C>A | Hetero | intronic | 16 | rs1793915 | |
| COL2A1 | c.654+15T>G | Hetero | intronic | 9 | rs1034762 | |
| COL2A1 | c.85+18C>G | Hetero | intronic | 1 | rs3803184 | |
| COL2A1 | c.25A>T | Hetero | exonic | 1 | p.T9S | rs3803183 |