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 | |||||||||
| AutG6792 | CDKL5 | - | X | 18445678 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG6792 | CDKL5 | - | X | 18606108 | G | C/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG6792 | CDKL5 | - | X | 18622630 | G | C/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG6792 | CDKL5 | - | X | 18622983 | C | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG6792 | CDKL5 | - | X | 18622983 | C | A/C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG6792 | CDKL5 | - | X | 18638000 | A | A/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG6792 | CDKL5 | - | X | 18646629 | CT | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG5256 | PHKA2 | - | X | 18910664 | T | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
| AutG10149 | GPR64 | - | X | 19037757 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG256714 | MAP7D2 | - | X | 20029039 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG6197 | RPS6KA3 | - | X | 20862562 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG100873065 | PTCHD1-AS | - | X | 23318898 | T | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG6303 | SAT1 | - | X | 23801307 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
| AutG5422 | POLA1 | - | X | 24948973 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG11141 | IL1RAPL1 | - | X | 29973282 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG25878 | MXRA5 | - | X | 3227525 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
| AutG25878 | MXRA5 | - | X | 3228257 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG1756 | DMD | - | X | 32364161 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG25878 | MXRA5 | - | X | 3240238 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG1756 | DMD | - | X | 33144848 | - | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |