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 | |||||||||
| AutG157680 | VPS13B | - | 8 | 100866155 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG23167 | EFR3A | - | 8 | 132998507 | A | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG3786 | KCNQ3 | - | 8 | 133141789 | C | T | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG2055 | CLN8 | - | 8 | 1719291 | G | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Negative |
| AutG7248 | TSC1 | - | 9 | 135782214 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG7248 | TSC1 | - | 9 | 135786451 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG7248 | TSC1 | - | 9 | 135800991 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG301 | ANXA1 | - | 9 | 75788183 | C | T | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176833427 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176833481 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176833571 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176852074 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176863877 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176913063 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG460 | ASTN1 | - | 1 | 176999962 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG31 | ACACA | - | 17 | 35564585 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG79718 | TBL1XR1 | - | 3 | 176750844 | G | C | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG79718 | TBL1XR1 | - | 3 | 176750853 | T | C | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG79718 | TBL1XR1 | - | 3 | 176755900 | C | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG79718 | TBL1XR1 | - | 3 | 176756165 | T | C | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |