Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25516 | chrX | 154399899 | T | A |
-
c.287T>A
|
-
p.Val96Asp
|
- | 3.0 |
|
B | |
| 12611 | chrX | 154399904 | C | T |
-
c.292C>T
|
-
p.Arg98Cys
|
- | 3.0 |
|
B | |
| 34189 | chrX | 154400561 | CAGAACAAGG | C |
-
c.430_438del
|
-
p.Asn144_Glu146del
|
- | 3.0 |
|
B | |
| 10876 | chrX | 154400684 | C | A |
-
c.493-18C>A
|
-
-
|
3.0 |
|
B | ||
| 27277 | chrX | 154400688 | C | T |
-
c.493-14C>T
|
-
-
|
3.0 |
|
B | ||
| 17360 | chrX | 154400710 | CT | C |
-
c.502del
|
-
p.Ser168GlnfsTer104
|
- | 4.0 |
|
B | |
| 3003 | chrX | 154400791 | C | T |
-
c.582C>T
|
-
p.Gly194=
|
3.0 |
|
B | ||
| 16875 | chrX | 154400820 | G | A |
-
c.611G>A
|
-
p.Gly204Asp
|
- | 3.0 |
|
B | |
| 5670 | chrX | 154402959 | G | T |
c.757C>A
-
|
p.Gln253Lys
-
|
- | 3.0 |
|
B | |
| 28206 | chrX | 154403334 | C | T |
c.460G>A
-
|
p.Val154Ile
-
|
3.0 |
|
B | ||
| 5754 | chrX | 154478026 | C | T |
-
c.350G>A
|
-
p.Arg117Gln
|
3.0 |
|
B | ||
| 26533 | chrX | 154512886 | C | G |
c.64G>C
|
p.Val22Leu
|
- | 3.0 |
|
B | |
| 22989 | chrX | 154532108 | G | A |
c.1458-18C>T
|
-
|
- | 3.0 |
|
B | |
| 16267 | chrX | 154532293 | G | A |
c.1365-13C>T
|
-
|
1.0 |
|
B | ||
| 30525 | chrX | 154532398 | T | C |
c.1352A>G
|
p.His451Arg
|
- | 3.0 |
|
B | |
| 26026 | chrX | 154532420 | C | T |
c.1330G>A
|
p.Val444Ile
|
3.0 |
|
B | ||
| 26295 | chrX | 154532812 | G | A |
c.1052-10C>T
|
-
|
2.0 |
|
B | ||
| 6244 | chrX | 154533004 | C | T |
c.989G>A
|
p.Arg330His
|
3.0 |
|
B | ||
| 34320 | chrX | 154533586 | C | G |
c.854G>C
|
p.Arg285Pro
|
- | 3.0 |
|
B | |
| 13514 | chrX | 154533665 | C | T |
c.775G>A
|
p.Val259Met
|
3.0 |
|
B |