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 | |||||||||
AutG4204 | MECP2 | - | X | 153296153 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
AutG4204 | MECP2 | - | X | 153296153 | G | A/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG4204 | MECP2 | - | X | 153296671 | G | A/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG4204 | MECP2 | - | X | 153296696 | C | C/T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG4204 | MECP2 | - | X | 153296711 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG2316 | FLNA | - | X | 153593613 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG2316 | FLNA | - | X | 153594754 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG55558 | PLXNA3 | - | X | 153694155 | A | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive | - | X | 153698849 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG55558 | PLXNA3 | - | X | 153701511 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
AutG60343 | FAM3A | - | X | 153734897 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
AutG65991 | FUNDC2 | - | X | 154284285 | C | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
AutG116442 | RAB39B | - | X | 154493543 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG8544 | PIR | - | X | 15474053 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG55217 | TMLHE | - | X | 154754246 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG55787 | TXLNG | - | X | 16860727 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Negative |
AutG4810 | NHS | - | X | 17744090 | - | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG4810 | NHS | - | X | 17750042 | G | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
AutG139105 | BEND2 | - | X | 18192321 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
AutG6792 | CDKL5 | - | X | 18445494 | - | AGCTGTAG | 0 | 0 | 0 | 0 | 1 | 0 | 1 |