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 | |||||||||
| AutG57519 | STARD9 | - | 15 | 43011023 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2038 | EPB42 | - | 15 | 43507463 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG116179 | TGM7 | - | 15 | 43579545 | C | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG27229 | TUBGCP4 | - | 15 | 43692324 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG7158 | TP53BP1 | - | 15 | 43705517 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG80208 | SPG11 | - | 15 | 44865888 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG6652 | SORD | - | 15 | 45353297 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG50506 | DUOX2 | - | 15 | 45403691 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG53905 | DUOX1 | - | 15 | 45436232 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG53905 | DUOX1 | - | 15 | 45448101 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG53905 | DUOX1 | - | 15 | 45448118 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6557 | SLC12A1 | - | 15 | 48560743 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2200 | FBN1 | - | 15 | 48720623 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG2200 | FBN1 | - | 15 | 48780431 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG22995 | CEP152 | - | 15 | 49048380 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG9318 | COPS2 | - | 15 | 49426143 | - | - | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG9101 | USP8 | - | 15 | 50769642 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG9101 | USP8 | - | 15 | 50786392 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG54822 | TRPM7 | - | 15 | 50923683 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG23431 | AP4E1 | - | 15 | 51291288 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |