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 | |||||||||
| AutG81551 | STMN4 | rs4733039 | 8 | 27101046 | C | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG81551 | STMN4 | rs4733041 | 8 | 27113678 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG81551 | STMN4 | rs4733043 | 8 | 27113883 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs4739071 | 8 | 64171122 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG | None | rs4761371 | 1 | 77749549 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG23026 | MYO16 | rs4771632 | 1 | 110048742 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG23026 | MYO16 | rs4771633 | 1 | 110060787 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG140733 | MACROD2 | rs4814324 | 2 | 14742830 | C | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG115677 | NOSTRIN | rs482435 | 2 | 169676045 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |
| AutG1496 | CTNNA2 | rs4852531 | 2 | 80049718 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs4861106 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | rs492780 | 2 | 45143894 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG116135 | LRRC3B | rs4973800 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs5008948 | 1 | 80239398 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG | None | rs519700 | 1 | 89164320 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG147495 | APCDD1 | rs547668 | 1 | 10476821 | G | G | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG85358 | SHANK3 | rs5770820 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG1756 | DMD | rs5972577 | X | 32480290 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG284217 | LAMA1 | rs600695 | 1 | 7034946 | G | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs6049129 | 2 | 23775819 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |