Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2326 | chrX | 47565018 | G | C |
c.337G>C
|
p.Asp113His
|
- | 3.0 |
|
B | |
| 26030 | chrX | 47565052 | G | T |
c.371G>T
|
p.Arg124Leu
|
- | 3.0 |
|
B | |
| 12222 | chrX | 47565249 | A | G |
c.459-3A>G
|
-
|
2.5 |
|
B | ||
| 10066 | chrX | 47565341 | A | C |
c.548A>C
|
p.Gln183Pro
|
- | 3.0 |
|
B | |
| 35511 | chrX | 47566667 | C | T |
c.586C>T
|
p.His196Tyr
|
- | 3.0 |
|
B | |
| 10850 | chrX | 47566713 | G | A |
c.632G>A
|
p.Arg211His
|
3.0 |
|
B | ||
| 717 | chrX | 47566722 | C | T |
c.641C>T
|
p.Ser214Phe
|
4.0 |
|
B | ||
| 18699 | chrX | 47566727 | C | G |
c.646C>G
|
p.Pro216Ala
|
- | 3.0 |
|
B | |
| 15554 | chrX | 47567246 | G | T |
-
c.890G>T
|
-
p.Arg297Leu
|
- | 3.0 |
|
B | |
| 18939 | chrX | 47567291 | T | C |
-
c.935T>C
|
-
p.Leu312Pro
|
- | 3.0 |
|
B | |
| 9990 | chrX | 47567315 | C | T |
-
c.959C>T
|
-
p.Ser320Leu
|
- | 3.0 |
|
B | |
| 8766 | chrX | 47568761 | A | G |
-
c.1120A>G
|
-
p.Thr374Ala
|
- | 3.0 |
|
B | |
| 720 | chrX | 47570909 | C | T |
-
c.1583C>T
|
-
p.Ser528Phe
|
- | 3.0 |
|
B | |
| 24431 | chrX | 47570917 | C | G |
-
c.1591C>G
|
-
p.Leu531Val
|
- | 3.0 |
|
B | |
| 1174 | chrX | 47571398 | C | A |
-
c.1762C>A
|
-
p.Arg588Ser
|
- | 3.0 |
|
B | |
| 3328 | chrX | 47619414 | GC | G |
c.314del
-
|
p.Gly105AlafsTer39
-
|
3.0 |
|
B | ||
| 31496 | chrX | 48257759 | T | C |
c.83T>C
|
p.Ile28Thr
|
3.0 |
|
B | ||
| 35462 | chrX | 48261747 | C | A |
c.281-19C>A
|
-
|
- | 3.0 |
|
B | |
| 35041 | chrX | 48261782 | G | C |
c.297G>C
|
p.Met99Ile
|
- | 3.0 |
|
B | |
| 31074 | chrX | 48266358 | A | G |
c.538A>G
|
p.Ile180Val
|
- | 3.0 |
|
B |