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 | |||||||||
| AutG546 | ATRX | - | X | 76938923 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG546 | ATRX | - | X | 76939069 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG3730 | KAL1 | - | X | 8499107 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
| AutG94121 | SYTL4 | - | X | 99941091 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG23077 | MYCBP2 | - | - | - | C | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG23077 | MYCBP2 | - | - | - | T | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG166336 | PRICKLE2 | - | - | - | G | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG7337 | UBE3A | - | - | - | T | C | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Negative |
| AutG23443 | SLC35A3 | - | 1 | 100476969 | C | T | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG23443 | SLC35A3 | - | 1 | 100483370 | A | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG3914 | LAMB3 | - | 1 | 209823359 | C | T | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG5664 | PSEN2 | - | 1 | 227081705 | - | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | |
| AutG2048 | EPHB2 | - | 1 | 23237067 | G | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55600125 | A | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55626564 | T | C | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55663053 | C | T | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55719605 | C | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55721637 | G | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55944928 | A | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
| AutG65217 | PCDH15 | - | 10 | 55944949 | T | C | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |