Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21663 | chrX | 154533684 | G | C |
c.771-15C>G
|
-
|
- | 3.0 |
|
B | |
| 2169 | chrX | 154533719 | C | G |
c.771-50G>C
|
-
|
- | 3.0 |
|
B | |
| 23006 | chrX | 154534090 | C | G |
c.715G>C
|
p.Glu239Gln
|
- | 3.0 |
|
B | |
| 2851 | chrX | 154534362 | A | G |
c.620T>C
|
p.Met207Thr
|
3.0 |
|
B | ||
| 33360 | chrX | 154534392 | T | A |
c.590A>T
|
p.Tyr197Phe
|
3.0 |
|
B | ||
| 13717 | chrX | 154534407 | C | T |
c.575G>A
|
p.Arg192His
|
3.0 |
|
B | ||
| 19286 | chrX | 154534510 | G | A |
c.486-14C>T
|
-
|
2.0 |
|
B | ||
| 21775 | chrX | 154535197 | C | G |
c.456G>C
|
p.Lys152Asn
|
- | 3.0 |
|
B | |
| 13515 | chrX | 154546086 | C | T |
c.70G>A
-
|
p.Asp24Asn
-
|
- | 3.0 |
|
B | |
| 10736 | chrX | 154546769 | G | A |
c.-9+20C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 35377 | chrX | 154764915 | G | T |
c.33G>T
|
p.Lys11Asn
|
- | 3.0 |
|
B | |
| 19130 | chrX | 154765466 | T | C |
c.107T>C
|
p.Phe36Ser
|
- | 3.0 |
|
B | |
| 10790 | chrX | 154765512 | G | T |
c.153G>T
|
p.Gln51His
|
- | 3.0 |
|
B | |
| 24266 | chrX | 154766194 | AT | A |
c.264-10del
|
-
|
3.0 |
|
B | ||
| 19857 | chrX | 154766194 | ATT | A |
c.264-11_264-10del
|
-
|
3.0 |
|
B | ||
| 24491 | chrX | 154766276 | G | A |
c.324G>A
|
p.Trp108Ter
|
- | 3.0 |
|
B | |
| 24594 | chrX | 154766415 | G | A |
c.448+15G>A
|
-
|
- | 3.0 |
|
B | |
| 18249 | chrX | 154767345 | G | C |
c.603G>C
|
p.Glu201Asp
|
- | 3.0 |
|
B | |
| 29260 | chrX | 154768390 | G | T |
c.729G>T
|
p.Met243Ile
|
- | 3.0 |
|
B | |
| 14255 | chrX | 154769150 | A | G |
c.772-17A>G
|
-
|
- | 3.0 |
|
B |