Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9229 | chrX | 77684267 | T | A |
c.989A>T
|
p.Lys330Ile
|
- | 3.0 |
|
B | |
| 827 | chrX | 77684270 | T | C |
c.986A>G
|
p.Lys329Arg
|
- | 3.0 |
|
B | |
| 610 | chrX | 77684285 | CA | C |
c.970del
|
p.Cys324ValfsTer8
|
- | 4.0 |
|
B | |
| 10628 | chrX | 77684311 | A | T |
c.945T>A
|
p.Phe315Leu
|
- | 3.0 |
|
B | |
| 4878 | chrX | 77684363 | ATCT | A |
c.890_892del
|
p.Lys297del
|
3.0 |
|
B | ||
| 14370 | chrX | 77684454 | AAATGTAGCAATACCATTGGTTGTTTT | A |
c.776_801del
|
p.Glu259ValfsTer14
|
- | 4.0 |
|
B | |
| 14371 | chrX | 77684481 | C | T |
c.775G>A
|
p.Glu259Lys
|
- | 3.0 |
|
B | |
| 15011 | chrX | 77684496 | A | G |
c.760T>C
|
p.Ser254Pro
|
- | 3.0 |
|
B | |
| 6149 | chrX | 77684507 | C | T |
c.749G>A
|
p.Arg250Gln
|
- | 3.0 |
|
B | |
| 8428 | chrX | 77684577 | C | A |
c.679G>T
|
p.Gly227Ter
|
- | 4.0 |
|
B | |
| 24466 | chrX | 77684613 | A | T |
c.663-20T>A
|
-
|
- | 3.0 |
|
B | |
| 17660 | chrX | 77685007 | C | G |
c.595-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 24952 | chrX | 77688813 | CAT | C |
c.594+3_594+4del
|
-
|
- | 3.5 |
|
B | |
| 5891 | chrX | 77688817 | C | G |
c.594+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 9802 | chrX | 77688834 | T | C |
c.578A>G
|
p.Gln193Arg
|
3.0 |
|
B | ||
| 26559 | chrX | 77688858 | GA | G |
c.553del
|
p.Ser185ProfsTer21
|
- | 4.0 |
|
B | |
| 6075 | chrX | 77688884 | T | A |
c.528A>T
|
p.Gln176His
|
- | 3.0 |
|
B | |
| 21090 | chrX | 77696612 | G | C |
c.335C>G
|
p.Ser112Ter
|
- | 4.0 |
|
B | |
| 30031 | chrX | 77696664 | C | T |
c.283G>A
|
p.Glu95Lys
|
- | 3.0 |
|
B | |
| 12627 | chrX | 77696710 | A | G |
c.243-6T>C
|
-
|
3.0 |
|
B |