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 | |||||||||
| AutG64855 | FAM129B | - | 9 | 130270790 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG6812 | STXBP1 | - | 9 | 130428475 | ATC | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6812 | STXBP1 | - | 9 | 130435529 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6812 | STXBP1 | - | 9 | 130444715 | GC | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG158248 | TTC16 | - | 9 | 130487112 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG10044 | SH2D3C | - | 9 | 130513455 | C | Y | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1025 | CDK9 | - | 9 | 130549061 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2356 | FPGS | - | 9 | 130575637 | A | AC | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2022 | ENG | - | 9 | 130578257 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG1759 | DM1 | - | 9 | 131013111 | T | TG | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2801 | GOLGA2 | - | 9 | 131020733 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG51148 | CERCAM | - | 9 | 131193745 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6418 | SET | - | 9 | 131446286 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6418 | SET | - | 9 | 131454235 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG10444 | ZER1 | - | 9 | 131503896 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2021 | ENDOG | - | 9 | 131584649 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2021 | ENDOG | - | 9 | 131584651 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG23511 | NUP188 | - | 9 | 131721169 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG23511 | NUP188 | - | 9 | 131752513 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1384 | CRAT | - | 9 | 131857751 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |