Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5668 | chrX | 111163577 | G | C |
c.616G>C
|
p.Val206Leu
|
- | 3.0 |
|
B | |
| 22427 | chrX | 111163581 | T | C |
c.620T>C
|
p.Val207Ala
|
- | 3.0 |
|
B | |
| 5430 | chrX | 111173040 | C | A |
c.789C>A
|
p.Asp263Glu
|
- | 3.0 |
|
B | |
| 5466 | chrX | 111173051 | A | T |
c.800A>T
|
p.Lys267Ile
|
- | 3.0 |
|
B | |
| 9292 | chrX | 111192581 | G | A |
c.955G>A
|
p.Glu319Lys
|
3.0 |
|
B | ||
| 20943 | chrX | 111192599 | A | T |
c.973A>T
|
p.Ile325Phe
|
- | 3.0 |
|
B | |
| 28939 | chrX | 111194418 | G | A |
c.1110G>A
|
p.Glu370=
|
- | 3.0 |
|
B | |
| 26782 | chrX | 111194422 | A | T |
c.1110+4A>T
|
-
|
- | 3.0 |
|
B | |
| 6141 | chrX | 111195917 | G | A |
c.1186G>A
|
p.Gly396Arg
|
- | 3.0 |
|
B | |
| 7494 | chrX | 111196600 | TG | T |
c.1369del
|
p.Glu457LysfsTer17
|
- | 3.0 |
|
B | |
| 4261 | chrX | 111216414 | T | A |
c.1408-7T>A
|
-
|
- | 3.0 |
|
B | |
| 25981 | chrX | 111216423 | A | G |
c.1410A>G
|
p.Ala470=
|
3.0 |
|
B | ||
| 3102 | chrX | 111216491 | G | A |
c.1478G>A
|
p.Arg493His
|
3.0 |
|
B | ||
| 3347 | chrX | 111246732 | G | A |
c.1771C>T
|
p.Gln591Ter
|
- | 3.0 |
|
B | |
| 13598 | chrX | 114906737 | G | A |
c.699G>A
|
p.Thr233=
|
3.0 |
|
B | ||
| 20441 | chrX | 116172674 | AT | A |
c.402del
|
p.Phe134LeufsTer5
|
2.0 |
|
B | ||
| 4564 | chrX | 118593274 | C | T |
c.2200C>T
|
p.His734Tyr
|
- | 3.0 |
|
B | |
| 20085 | chrX | 119616734 | TA | T |
-
|
-
|
- | 3.0 |
|
B | |
| 27917 | chrX | 119625389 | A | T |
c.1281-10T>A
|
-
|
- | 3.0 |
|
B | |
| 16635 | chrX | 119629502 | C | T |
c.1096G>A
|
p.Glu366Lys
|
3.0 |
|
B |