Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32447 | chrX | 47171154 | G | A |
c.328G>A
|
p.Glu110Lys
|
3.0 |
|
B | ||
| 23403 | chrX | 47171161 | GGGA | G |
c.357_359del
|
p.Glu119del
|
3.0 |
|
B | ||
| 4431 | chrX | 47171209 | G | A |
c.383G>A
|
p.Ser128Asn
|
- | 3.0 |
|
B | |
| 33451 | chrX | 47173173 | C | CG |
c.480dup
|
p.Leu161AlafsTer19
|
- | 4.0 |
|
B | |
| 34790 | chrX | 47173174 | G | A |
c.479G>A
|
p.Arg160Gln
|
- | 3.0 |
|
B | |
| 30683 | chrX | 47173195 | C | A |
c.500C>A
|
p.Ser167Ter
|
- | 4.0 |
|
B | |
| 8763 | chrX | 47175015 | C | A |
c.503-4C>A
|
-
|
- | 3.0 |
|
B | |
| 18982 | chrX | 47175072 | C | T |
c.556C>T
|
p.Arg186Ter
|
- | 4.0 |
|
B | |
| 7160 | chrX | 47175077 | G | A |
c.561G>A
|
p.Trp187Ter
|
- | 4.0 |
|
B | |
| 6040 | chrX | 47175092 | G | A |
c.576G>A
|
p.Gln192=
|
- | 3.0 |
|
B | |
| 26025 | chrX | 47175103 | C | T |
c.576+11C>T
|
-
|
2.5 |
|
B | ||
| 6578 | chrX | 47176495 | C | T |
c.577-5C>T
|
-
|
3.0 |
|
B | ||
| 31118 | chrX | 47179109 | G | A |
c.670G>A
|
p.Val224Ile
|
3.0 |
|
B | ||
| 31335 | chrX | 47179119 | TC | T |
c.681del
|
p.Phe227LeufsTer39
|
- | 4.0 |
|
B | |
| 10426 | chrX | 47179127 | C | T |
c.688C>T
|
p.Arg230Ter
|
4.0 |
|
B | ||
| 31230 | chrX | 47179433 | G | C |
c.839G>C
|
p.Gly280Ala
|
- | 3.0 |
|
B | |
| 17626 | chrX | 47179457 | C | G |
c.863C>G
|
p.Ser288Ter
|
- | 4.0 |
|
B | |
| 7972 | chrX | 47179465 | T | TC |
c.872dup
|
p.Glu292GlyfsTer9
|
- | 4.0 |
|
B | |
| 35127 | chrX | 47179466 | C | A |
c.872C>A
|
p.Ser291Ter
|
- | 4.0 |
|
B | |
| 5317 | chrX | 47179466 | C | T |
c.872C>T
|
p.Ser291Leu
|
3.0 |
|
B |