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 | |||||||||
| AutG29123 | ANKRD11 | - | 16 | 89349242 | CTGTTT | CT | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG29123 | ANKRD11 | - | 16 | 89350771 | CTTTG | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6687 | SPG7 | - | 16 | 89613072 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG27132 | CPNE7 | - | 16 | 89655160 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG5119 | CHMP1A | - | 16 | 89715851 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2175 | FANCA | - | 16 | 89816184 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2175 | FANCA | - | 16 | 89845355 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG10381 | TUBB3 | - | 16 | 90001686 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG750 | C16orf3 | - | 16 | 90095511 | T | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG750 | C16orf3 | - | 16 | 90095511 | TG | AT | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG750 | C16orf3 | - | 16 | 90095512 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG | GAS8-AS1 | - | 16 | 90095617 | G | GCTGCGGGGCAGC | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG9501 | RPH3AL | - | 17 | 69451 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG50628 | GEMIN4 | - | 17 | 650797 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG29 | ABR | - | 17 | 1003915 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG4641 | MYO1C | - | 17 | 1380804 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG51763 | INPP5K | - | 17 | 1411432 | - | - | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG51763 | INPP5K | - | 17 | 1411432 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG5306 | PITPNA | - | 17 | 1437418 | C | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG10594 | PRPF8 | - | 17 | 1561966 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |