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 | |||||||||
| AutG5364 | PLXNB1 | - | 3 | 48459731 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG1294 | COL7A1 | - | 3 | 48606872 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1294 | COL7A1 | - | 3 | 48606873 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1294 | COL7A1 | - | 3 | 48606874 | T | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1294 | COL7A1 | - | 3 | 48611123 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1294 | COL7A1 | - | 3 | 48621941 | - | - | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG3615 | IMPDH2 | - | 3 | 49064457 | - | - | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG3913 | LAMB2 | - | 3 | 49166218 | C | S | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG8927 | BSN | - | 3 | 49694871 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG63891 | RNF123 | - | 3 | 49737159 | TCC | - | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG63891 | RNF123 | - | 3 | 49743440 | A | R | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG63891 | RNF123 | - | 3 | 49753101 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG29925 | GMPPB | - | 3 | 49759429 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG4486 | MST1R | - | 3 | 49933686 | T | Y | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6405 | SEMA3F | - | 3 | 50211299 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG11186 | RASSF1 | - | 3 | 50374742 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG11070 | TMEM115 | - | 3 | 50396002 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG9254 | CACNA2D2 | - | 3 | 50425026 | G | R | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1154 | CISH | - | 3 | 50645313 | T | W | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG9730 | VPRBP | - | 3 | 51452176 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |