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 | |||||||||
| AutG320 | APBA1 | - | 9 | 72047457 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG23189 | KANK1 | - | 9 | 742297 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG117531 | TMC1 | - | 9 | 75355093 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG140803 | TRPM6 | - | 9 | 77367203 | T | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG140803 | TRPM6 | - | 9 | 77454973 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG5125 | PCSK5 | - | 9 | 78750867 | C | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG158471 | PRUNE2 | - | 9 | 79324135 | A | ATGACTGTTGCAG | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG158471 | PRUNE2 | - | 9 | 79465455 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG101927477 | LINC01507 | - | 9 | 82691406 | T | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG5789 | PTPRD | - | 9 | 8484233 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG5789 | PTPRD | - | 9 | 8896292 | A | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG5789 | PTPRD | - | 9 | 8896293 | T | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG1612 | DAPK1 | - | 9 | 90301641 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG55035 | NOL8 | - | 9 | 95077470 | T | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG23196 | FAM120A | - | 9 | 96259884 | A | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG84641 | HIATL1 | - | 9 | 97207469 | A | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG8789 | FBP2 | - | 9 | 97321404 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG1301 | COL11A1 | - | 1 | 103453239 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG9132 | KCNQ4 | - | 1 | 41298697 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG | KAT6B | - | 10 | 76754001 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |