Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10246 | chrX | 71401598 | C | A |
c.3857C>A
|
p.Thr1286Lys
|
- | 3.0 |
|
B | |
| 10592 | chrX | 71401696 | G | T |
c.3955G>T
|
p.Val1319Phe
|
- | 3.0 |
|
B | |
| 17437 | chrX | 71407595 | C | T |
c.4129C>T
|
p.Arg1377Trp
|
- | 3.0 |
|
B | |
| 11434 | chrX | 71407598 | C | T |
c.4132C>T
|
p.Arg1378Cys
|
- | 3.0 |
|
B | |
| 18201 | chrX | 71407637 | G | A |
c.4171G>A
|
p.Glu1391Lys
|
- | 3.0 |
|
B | |
| 1196 | chrX | 71408062 | G | A |
c.4295G>A
|
p.Arg1432His
|
- | 3.5 |
|
B | |
| 5442 | chrX | 71408064 | G | A |
c.4297G>A
|
p.Glu1433Lys
|
3.0 |
|
B | ||
| 14237 | chrX | 71408089 | C | T |
c.4322C>T
|
p.Pro1441Leu
|
- | 3.0 |
|
B | |
| 12310 | chrX | 71424008 | T | A |
c.4610T>A
|
p.Phe1537Tyr
|
- | 3.0 |
|
B | |
| 909 | chrX | 71454201 | G | T |
c.4785G>T
|
p.Gln1595His
|
- | 3.0 |
|
B | |
| 1950 | chrX | 71454235 | G | A |
c.4819G>A
|
p.Glu1607Lys
|
- | 3.0 |
|
B | |
| 24658 | chrX | 71458307 | G | A |
c.5005G>A
|
p.Glu1669Lys
|
- | 3.0 |
|
B | |
| 22640 | chrX | 71459267 | G | A |
c.5065-285G>A
|
-
|
- | 3.0 |
|
B | |
| 25201 | chrX | 71459648 | G | A |
c.5161G>A
|
p.Glu1721Lys
|
- | 3.0 |
|
B | |
| 15693 | chrX | 71459652 | G | A |
c.5165G>A
|
p.Gly1722Glu
|
- | 3.0 |
|
B | |
| 13555 | chrX | 71463819 | C | T |
c.5400-5C>T
|
-
|
- | 3.0 |
|
B | |
| 17949 | chrX | 71463850 | C | T |
c.5426C>T
|
p.Pro1809Leu
|
- | 3.0 |
|
B | |
| 2733 | chrX | 71463949 | C | T |
c.5525C>T
|
p.Pro1842Leu
|
3.0 |
|
B | ||
| 12311 | chrX | 71528660 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 12610 | chrX | 77508467 | C | T |
c.7363G>A
|
p.Asp2455Asn
|
- | 3.0 |
|
B |