Variant | rs number | Codon | MAF | HWE | Deleterious mutation? |
---|---|---|---|---|---|
478 C > T | Q84X | 0.003 | 1.000 | Yes | |
1342 A > C | rs6004238 | N372H | 0.318 | 0.000 | No |
3642 A > G | rs1801406 | K1132K | 0.131 | 0.033 | No |
4035 T > C | rs543304 | V1269V | 0.117 | 0.038 | No |
4075 del GT | 0.003 | 1.000 | Yes | ||
4856 del A | 0.003 | 1.000 | Yes | ||
5638 del GT | 0.003 | 1.000 | Yes | ||
5803 del ATTA | 0.003 | 1.000 | Yes | ||
6174 del T | 0.003 | 1.000 | Yes | ||
6503 del TT | 0.006 | 1.000 | Yes | ||
7405 ins A | 0.003 | 1.000 | Yes | ||
7470 A > G | rs1799955 | S2414S | 0.103 | 0.050 | No |
9097 C > T | Q2957X | 0.003 | 1.000 | Yes | |
9132 del C | 0.003 | 1.000 | Yes | ||
9504 T > G | T3092X | 0.003 | 1.000 | Yes |