Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5765 | chrX | 130037418 | G | A |
c.4579G>A
|
p.Asp1527Asn
|
- | 3.0 |
|
B | |
| 34693 | chrX | 130037513 | C | A |
c.4674C>A
|
p.Cys1558Ter
|
- | 4.0 |
|
B | |
| 13958 | chrX | 130039271 | G | A |
c.4829G>A
|
p.Arg1610His
|
3.0 |
|
B | ||
| 25087 | chrX | 130050749 | G | A |
c.4873G>A
|
p.Gly1625Ser
|
- | 3.0 |
|
B | |
| 12512 | chrX | 130050805 | A | T |
c.4918+11A>T
|
-
|
- | 3.0 |
|
B | |
| 20475 | chrX | 130051879 | C | CT |
c.4939dup
|
p.Cys1647LeufsTer2
|
- | 4.0 |
|
B | |
| 11417 | chrX | 130051928 | G | A |
c.4987G>A
|
p.Asp1663Asn
|
3.0 |
|
B | ||
| 24634 | chrX | 130052017 | G | T |
c.5075+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 32755 | chrX | 130055841 | C | T |
c.5076-13C>T
|
-
|
- | 3.0 |
|
B | |
| 24467 | chrX | 130055842 | T | C |
c.5076-12T>C
|
-
|
- | 3.0 |
|
B | |
| 6136 | chrX | 130055984 | TC | T |
c.5208del
|
p.Ser1737ValfsTer4
|
- | 3.5 |
|
B | |
| 24778 | chrX | 130056035 | T | TC |
c.5264dup
|
p.Gly1756ArgfsTer4
|
4.0 |
|
B | ||
| 17555 | chrX | 130056035 | TC | T |
c.5264del
|
p.Pro1755GlnfsTer20
|
3.5 |
|
B | ||
| 30256 | chrX | 130056051 | CTG | C |
c.5274_5275del
|
p.Glu1759AspfsTer59
|
- | 3.5 |
|
B | |
| 22450 | chrX | 130056123 | C | T |
c.5345C>T
|
p.Ser1782Phe
|
- | 3.0 |
|
B | |
| 24081 | chrX | 130067050 | G | A |
c.1663C>T
|
p.Pro555Ser
|
2.5 |
|
B | ||
| 30946 | chrX | 130067350 | C | T |
c.1363G>A
|
p.Asp455Asn
|
3.0 |
|
B | ||
| 28781 | chrX | 130067371 | G | A |
c.1342C>T
|
p.Pro448Ser
|
- | 3.0 |
|
B | |
| 27276 | chrX | 130067478 | C | T |
c.1235G>A
|
p.Gly412Glu
|
- | 3.0 |
|
B | |
| 29357 | chrX | 130069495 | C | G |
c.992G>C
|
p.Ser331Thr
|
- | 3.0 |
|
B |