Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17433 | chrX | 48794105 | C | T |
c.1183C>T
|
p.Pro395Ser
|
- | 3.0 |
|
B | |
| 4313 | chrX | 48794189 | G | A |
c.*25G>A
|
-
|
- | 3.0 |
|
B | |
| 8213 | chrX | 48794258 | C | T |
c.*94C>T
|
-
|
- | 3.0 |
|
B | |
| 3472 | chrX | 48822926 | G | A |
c.2527G>A
-
|
p.Glu843Lys
-
|
- | 3.0 |
|
B | |
| 26530 | chrX | 48911579 | CG | C |
c.57del
-
|
p.Ala20ArgfsTer16
-
|
- | 3.0 |
|
B | |
| 26534 | chrX | 48914387 | G | T |
-
c.772+8C>A
|
-
-
|
- | 3.0 |
|
B | |
| 21960 | chrX | 48915218 | C | T |
-
c.397G>A
|
-
p.Gly133Ser
|
- | 3.0 |
|
B | |
| 32776 | chrX | 48915314 | G | A |
-
c.301C>T
|
-
p.Arg101Cys
|
3.0 |
|
B | ||
| 25086 | chrX | 48917804 | G | A |
-
c.199C>T
|
-
p.Arg67Cys
|
- | 3.0 |
|
B | |
| 21942 | chrX | 48917842 | A | C |
-
c.172-11T>G
|
-
-
|
3.0 |
|
B | ||
| 5752 | chrX | 48918544 | G | A |
-
c.163C>T
|
-
p.Arg55Ter
|
- | 3.0 |
|
B | |
| 3501 | chrX | 49002195 | C | T |
c.35G>A
|
p.Arg12Gln
|
- | 3.0 |
|
B | |
| 17179 | chrX | 49030192 | C | CG |
c.1693dup
|
p.Arg565ProfsTer56
|
- | 3.0 |
|
B | |
| 26280 | chrX | 49030361 | G | A |
c.1525C>T
|
p.His509Tyr
|
- | 3.0 |
|
B | |
| 20102 | chrX | 49030440 | TC | T |
c.1445del
|
p.Gly482AspfsTer44
|
- | 3.0 |
|
B | |
| 31957 | chrX | 49031391 | T | C |
c.1284+6A>G
|
-
|
3.0 |
|
B | ||
| 23666 | chrX | 49031419 | C | A |
c.1262G>T
|
p.Arg421Leu
|
3.0 |
|
B | ||
| 12223 | chrX | 49033493 | C | T |
c.1108G>A
|
p.Gly370Ser
|
3.0 |
|
B | ||
| 33612 | chrX | 49033738 | T | G |
c.1048A>C
|
p.Asn350His
|
- | 3.0 |
|
B | |
| 33613 | chrX | 49034189 | G | C |
c.948C>G
|
p.Ile316Met
|
- | 3.0 |
|
B |