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 | |||||||||
| AutG80243 | PREX2 | - | 8 | 69020350 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG54714 | CNGB3 | - | 8 | 87588291 | T | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG389677 | RBM12B | - | 8 | 94747808 | A | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG157680 | VPS13B | - | 8 | 100791009 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG26986 | PABPC1 | - | 8 | 101719145 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG114788 | CSMD3 | - | 8 | 114449093 | G | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG7227 | TRPS1 | - | 8 | 116616940 | C | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG93594 | TBC1D31 | - | 8 | 124140567 | G | C | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG93594 | TBC1D31 | - | 8 | 124142531 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG169044 | COL22A1 | - | 8 | 139833533 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | - | 8 | 142148158 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| AutG23513 | SCRIB | - | 8 | 144895053 | C | G | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG83481 | EPPK1 | - | 8 | 144940414 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG83481 | EPPK1 | - | 8 | 144940432 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG83481 | EPPK1 | - | 8 | 144945296 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG5339 | PLEC | - | 8 | 145008533 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG50626 | CYHR1 | - | 8 | 145677925 | C | T | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |
| AutG6595 | SMARCA2 | - | 9 | 2076312 | T | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG57589 | KIAA1432 | - | 9 | 5769178 | A | G | 0 | 0 | 0 | 1 | 0 | 0 | 1 | |
| AutG5789 | PTPRD | - | 9 | 8507360 | G | A | 0 | 0 | 0 | 1 | 0 | 0 | 1 | Positive |