Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15237 | chrX | 77599571 | T | TTTC |
c.5793_5795dup
|
p.Lys1933dup
|
- | 3.0 |
|
B | |
| 28205 | chrX | 77599582 | TA | T |
c.5787-3del
|
-
|
- | 3.0 |
|
B | |
| 5025 | chrX | 77599724 | C | T |
c.5786+8G>A
|
-
|
3.0 |
|
B | ||
| 3908 | chrX | 77599725 | G | A |
c.5786+7C>T
|
-
|
2.0 |
|
B | ||
| 4219 | chrX | 77599743 | A | AT |
c.5774dup
|
p.Asp1925GlufsTer2
|
- | 4.0 |
|
B | |
| 17653 | chrX | 77599745 | C | T |
c.5773G>A
|
p.Asp1925Asn
|
3.0 |
|
B | ||
| 20440 | chrX | 77599805 | C | A |
c.5713G>T
|
p.Asp1905Tyr
|
- | 3.0 |
|
B | |
| 3785 | chrX | 77599816 | T | A |
c.5702A>T
|
p.Tyr1901Phe
|
- | 3.0 |
|
B | |
| 3786 | chrX | 77599821 | C | A |
c.5698-1G>T
|
p.?
|
4.0 |
|
B | ||
| 15238 | chrX | 77599826 | GA | G |
c.5698-7del
|
-
|
2.0 |
|
B | ||
| 15239 | chrX | 77600458 | TAGCTGCAAACACCAAGGATG | T |
c.5653_5672del
|
p.His1885ArgfsTer4
|
- | 4.0 |
|
B | |
| 30772 | chrX | 77600463 | G | A |
c.5668C>T
|
p.Gln1890Ter
|
- | 4.0 |
|
B | |
| 6272 | chrX | 77600475 | G | GATGAGTCCATATTCTACTTAACATCTGAAAATCTTGGAAAAGGC |
c.5655_5656insGCCTTTTCCAAGATTTTCAGATGTTAAGTAGAATATGGACTCAT
|
p.Pro1886AlafsTer9
|
- | 4.0 |
|
B | |
| 4075 | chrX | 77600480 | GTCCATA | G |
c.5645_5650del
|
p.Ile1882_Trp1883del
|
- | 3.5 |
|
B | |
| 11600 | chrX | 77600566 | T | C |
c.5567-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 13894 | chrX | 77616629 | G | C |
c.5550C>G
|
p.Tyr1850Ter
|
- | 4.0 |
|
B | |
| 5908 | chrX | 77616732 | T | C |
c.5449-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 24722 | chrX | 77618823 | ACATCT | A |
c.5426_5430del
|
p.Glu1809ValfsTer50
|
- | 4.0 |
|
B | |
| 1324 | chrX | 77618841 | G | C |
c.5413C>G
|
p.His1805Asp
|
- | 3.0 |
|
B | |
| 17112 | chrX | 77618885 | G | T |
c.5369C>A
|
p.Ala1790Glu
|
- | 3.0 |
|
B |