Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32637 | chrX | 49034267 | G | A |
c.886-16C>T
|
-
|
- | 3.0 |
|
B | |
| 27201 | chrX | 49038222 | G | A |
c.755C>T
|
p.Thr252Ile
|
- | 3.0 |
|
B | |
| 25866 | chrX | 49038270 | G | A |
c.707C>T
|
p.Thr236Ile
|
- | 3.0 |
|
B | |
| 30552 | chrX | 49039145 | G | A |
c.496C>T
|
p.Arg166Cys
|
3.0 |
|
B | ||
| 17518 | chrX | 49039229 | C | G |
c.412G>C
|
p.Ala138Pro
|
- | 3.0 |
|
B | |
| 32243 | chrX | 49039430 | G | A |
c.231-20C>T
|
-
|
- | 3.0 |
|
B | |
| 4798 | chrX | 49163921 | G | A |
c.188G>A
|
p.Arg63Gln
|
3.0 |
|
B | ||
| 17124 | chrX | 50294849 | C | CT |
c.205-5dup
|
-
|
3.0 |
|
B | ||
| 5240 | chrX | 50404049 | C | T |
c.1078G>A
|
p.Val360Met
|
- | 3.0 |
|
B | |
| 34527 | chrX | 50422460 | A | G |
c.823T>C
|
p.Cys275Arg
|
- | 3.0 |
|
B | |
| 15690 | chrX | 51407045 | A | T |
c.29A>T
|
p.Glu10Val
|
- | 3.0 |
|
B | |
| 33560 | chrX | 51407089 | G | A |
c.73G>A
|
p.Glu25Lys
|
3.0 |
|
B | ||
| 25298 | chrX | 51407143 | G | A |
c.127G>A
|
p.Ala43Thr
|
3.0 |
|
B | ||
| 18198 | chrX | 51407338 | G | A |
c.322G>A
|
p.Glu108Lys
|
- | 3.0 |
|
B | |
| 17434 | chrX | 51407413 | G | T |
c.397G>T
|
p.Asp133Tyr
|
3.0 |
|
B | ||
| 11246 | chrX | 51407732 | C | A |
c.716C>A
|
p.Thr239Asn
|
- | 3.0 |
|
B | |
| 16169 | chrX | 51407786 | G | A |
c.770G>A
|
p.Arg257His
|
3.0 |
|
B | ||
| 32218 | chrX | 51407828 | G | T |
c.812G>T
|
p.Arg271Leu
|
- | 3.0 |
|
B | |
| 23251 | chrX | 51407950 | C | T |
c.934C>T
|
p.Arg312Cys
|
3.0 |
|
B | ||
| 17435 | chrX | 51408077 | C | T |
c.1061C>T
|
p.Ser354Leu
|
- | 3.0 |
|
B |