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 | |||||||||
| AutG5788 | PTPRC | - | 1 | 198668761 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG255104 | TMCO4 | - | 1 | 20072082 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG779 | CACNA1S | - | 1 | 20102016 | T | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG91156 | IGFN1 | - | 1 | 201190758 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG29089 | UBE2T | - | 1 | 202301027 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG26254 | OPTC | - | 1 | 203466190 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG947 | CD34 | - | 1 | 208073205 | C | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG51514 | DTL | - | 1 | 212253424 | T | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG149647 | FAM71A | - | 1 | 212799139 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG26750 | RPS6KC1 | - | 1 | 213415526 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG7399 | USH2A | - | 1 | 216062273 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG2104 | ESRRG | - | 1 | 217228064 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG55105 | GPATCH2 | - | 1 | 217633817 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG128153 | SPATA17 | - | 1 | 217944351 | G | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG51018 | RRP15 | - | 1 | 218428586 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG25782 | RAB3GAP2 | - | 1 | 220379266 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG3339 | HSPG2 | - | 1 | 22200454 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG3339 | HSPG2 | - | 1 | 22205601 | T | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG79802 | HHIPL2 | - | 1 | 222712108 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG339501 | PRSS38 | - | 1 | 228004966 | C | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |