Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9178 | chrX | 153955119 | C | T |
c.3280G>A
|
p.Ala1094Thr
|
3.0 |
|
B | ||
| 7018 | chrX | 153955254 | C | T |
c.3145G>A
|
p.Val1049Ile
|
3.0 |
|
B | ||
| 8676 | chrX | 153955307 | G | C |
c.3092C>G
|
p.Thr1031Ser
|
- | 3.0 |
|
B | |
| 1842 | chrX | 153955433 | T | A |
c.2966A>T
|
p.Gln989Leu
|
- | 3.0 |
|
B | |
| 24082 | chrX | 153955478 | A | G |
c.2921T>C
|
p.Val974Ala
|
- | 3.0 |
|
B | |
| 11899 | chrX | 153955536 | A | G |
c.2863T>C
|
p.Ser955Pro
|
- | 3.0 |
|
B | |
| 6318 | chrX | 153956697 | G | T |
c.2563C>A
|
p.Arg855Ser
|
- | 3.0 |
|
B | |
| 7252 | chrX | 153956751 | C | A |
c.2509G>T
|
p.Gly837Trp
|
- | 3.0 |
|
B | |
| 25088 | chrX | 153956950 | C | T |
c.2464G>A
|
p.Ala822Thr
|
- | 3.0 |
|
B | |
| 8798 | chrX | 153957033 | G | A |
c.2381C>T
|
p.Ser794Phe
|
- | 3.0 |
|
B | |
| 18622 | chrX | 153957466 | G | A |
c.2201C>T
|
p.Thr734Ile
|
- | 3.0 |
|
B | |
| 5033 | chrX | 153957843 | G | A |
c.2072C>T
|
p.Pro691Leu
|
- | 3.0 |
|
B | |
| 4080 | chrX | 153957861 | G | A |
c.2054C>T
|
p.Ser685Leu
|
- | 3.0 |
|
B | |
| 12926 | chrX | 153958030 | C | T |
c.2023G>A
|
p.Ala675Thr
|
3.0 |
|
B | ||
| 22429 | chrX | 153958047 | G | A |
c.2006C>T
|
p.Ser669Phe
|
- | 3.0 |
|
B | |
| 4017 | chrX | 153958047 | G | C |
c.2006C>G
|
p.Ser669Cys
|
- | 3.0 |
|
B | |
| 10124 | chrX | 153958122 | G | A |
c.1931C>T
|
p.Ala644Val
|
- | 3.0 |
|
B | |
| 15645 | chrX | 153958553 | C | A |
c.1803+16G>T
|
-
|
- | 3.0 |
|
B | |
| 17442 | chrX | 153958684 | G | A |
c.1688C>T
|
p.Ser563Leu
|
3.0 |
|
B | ||
| 2330 | chrX | 153959921 | TG | T |
c.1324del
|
p.Gln442LysfsTer2
|
- | 3.0 |
|
B |