View SNVs/InDels
| Entrez ID | Gene Symbol | SNP name | Chr | Position | ref | alt | Evidence Number | Total Number of Evidence | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GWAS | Low-Scale Genetic Association Studies | NGS de novo Mutation Studies | NGS Mosaic Mutation Studes | NGS Other Studies | Low-Scale Gene Studies | |||||||||
| AutG54461 | FBXW5 | - | 9 | 139835997 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG20 | ABCA2 | - | 9 | 139905870 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG20 | ABCA2 | - | 9 | 139917312 | G | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG56654 | NPDC1 | - | 9 | 139934810 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG774 | CACNA1B | - | 9 | 140777199 | G | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG55930 | MYO5C | - | ?15 | 52571742 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG4281 | MID1 | - | X | 10535273 | G | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG4281 | MID1 | - | X | 10535432 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG1756 | DMD | - | X | 32383221 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG1756 | DMD | - | X | 32509609 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG1184 | CLCN5 | - | X | 49834668 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG5456 | POU3F4 | - | X | 82764282 | T | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG8471 | IRS4 | - | X | 107977583 | C | G | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG154796 | AMOT | - | X | 112021879 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG10735 | STAG2 | - | X | 123156440 | A | G | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG10178 | TENM1 | - | X | 123517756 | T | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG63035 | BCORL1 | - | X | 129149138 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG3547 | IGSF1 | - | X | 130419865 | C | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG4204 | MECP2 | - | X | 153296824 | C | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG288 | ANK3 | - | - | - | A | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |