Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10425 | chrX | 45059055 | C | T |
c.925C>T
|
p.Gln309Ter
|
- | 4.0 |
|
B | |
| 8611 | chrX | 45059230 | TTAATTTCTCTTTCCAGTGTGCTA | T |
c.975-14_983del
|
p.?
|
- | 4.0 |
|
B | |
| 27489 | chrX | 45059243 | C | T |
c.975-4C>T
|
-
|
- | 3.0 |
|
B | |
| 8481 | chrX | 45060021 | G | T |
c.1195-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 29036 | chrX | 45060707 | C | G |
c.1428C>G
|
p.Ser476Arg
|
- | 3.0 |
|
B | |
| 8791 | chrX | 45061348 | G | T |
c.1510G>T
|
p.Gly504Ter
|
- | 3.5 |
|
B | |
| 5585 | chrX | 45062665 | G | C |
c.1600G>C
|
p.Ala534Pro
|
- | 3.0 |
|
B | |
| 2422 | chrX | 45062708 | A | G |
c.1643A>G
|
p.Glu548Gly
|
- | 3.0 |
|
B | |
| 30507 | chrX | 45063404 | C | T |
c.1684-18C>T
|
-
|
- | 2.0 |
|
B | |
| 14802 | chrX | 45063420 | A | C |
c.1684-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 29062 | chrX | 45063445 | G | C |
c.1707G>C
|
p.Gln569His
|
- | 3.0 |
|
B | |
| 166 | chrX | 45063449 | C | T |
c.1711C>T
|
p.Arg571Ter
|
4.67 |
|
A | ||
| 6490 | chrX | 45063524 | C | T |
c.1786C>T
|
p.Gln596Ter
|
- | 4.0 |
|
B | |
| 24656 | chrX | 45063532 | T | TC |
c.1795dup
|
p.Leu599ProfsTer6
|
- | 4.0 |
|
B | |
| 27842 | chrX | 45063551 | G | A |
c.1813G>A
|
p.Val605Ile
|
3.0 |
|
B | ||
| 29479 | chrX | 45063551 | G | C |
c.1813G>C
|
p.Val605Leu
|
- | 3.0 |
|
B | |
| 20917 | chrX | 45063626 | C | T |
c.1888C>T
|
p.Pro630Ser
|
- | 3.0 |
|
B | |
| 27029 | chrX | 45069607 | C | T |
c.2108C>T
|
p.Ser703Leu
|
2.5 |
|
B | ||
| 32242 | chrX | 45069691 | A | G |
c.2192A>G
|
p.Gln731Arg
|
- | 3.0 |
|
B | |
| 5020 | chrX | 45069895 | T | G |
c.2396T>G
|
p.Leu799Arg
|
- | 3.0 |
|
B |