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 | |||||||||
| AutG3887 | KRT81 | - | 12 | 52681414 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG3855 | KRT7 | - | 12 | 52635307 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG144501 | KRT80 | - | 12 | 52566841 | A | W | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG160622 | GRASP | - | 12 | 52413974 | A | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG1990 | CELA1 | - | 12 | 51723570 | A | R | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG81566 | CSRNP2 | - | 12 | 51470315 | CTT | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG57609 | DIP2B | - | 12 | 51069223 | T | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG51474 | LIMA1 | - | 12 | 50570945 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG2819 | GPD1 | - | 12 | 50501397 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG6602 | SMARCD1 | - | 12 | 50480605 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG57701 | NCKAP5L | - | 12 | 50188994 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG7009 | TMBIM6 | - | 12 | 50153110 | T | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG25766 | PRPF40B | - | 12 | 50030515 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG10024 | TROAP | - | 12 | 49725038 | C | Y | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG7846 | TUBA1A | - | 12 | 49579631 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG7846 | TUBA1A | - | 12 | 49579227 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
| AutG | KMT2D | - | 12 | 49422858 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG9416 | DDX23 | - | 12 | 49225047 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG112 | ADCY6 | - | 12 | 49173602 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| AutG112 | ADCY6 | - | 12 | 49168253 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |