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 | |||||||||
| AutG54897 | CASZ1 | - | 1 | 10699874 | GAA | GAAA | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG5226 | PGD | - | 1 | 10473286 | C | Y | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG10277 | UBE4B | - | 1 | 10166514 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG199953 | TMEM201 | - | 1 | 9673136 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG2023 | ENO1 | - | 1 | 8931983 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG473 | RERE | - | 1 | 8421838 | C | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG473 | RERE | - | 1 | 8421289 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG473 | RERE | - | 1 | 8418823 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG3104 | ZBTB48 | - | 1 | 6642301 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG11332 | ACOT7 | - | 1 | 6420658 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG26038 | CHD5 | - | 1 | 6202253 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG26038 | CHD5 | - | 1 | 6191718 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG261734 | NPHP4 | - | 1 | 5935138 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG1953 | MEGF6 | - | 1 | 3519049 | AC | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG9651 | PLCH2 | - | 1 | 2434058 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6497 | SKI | - | 1 | 2234766 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG339456 | TMEM52 | - | 1 | 1849510 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG339456 | TMEM52 | - | 1 | 1849366 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG83858 | ATAD3B | - | 1 | 1425957 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG83858 | ATAD3B | - | 1 | 1423250 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |