Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3327 | chrX | 24498901 | G | A |
c.320+1G>A
|
p.?
|
3.0 |
|
B | ||
| 4870 | chrX | 24724351 | C | T |
c.1217C>T
|
p.Thr406Met
|
2.5 |
|
B | ||
| 35411 | chrX | 24724359 | G | T |
c.1225G>T
|
p.Glu409Ter
|
- | 3.0 |
|
B | |
| 35412 | chrX | 24888043 | G | A |
c.4085G>A
|
p.Arg1362Gln
|
3.0 |
|
B | ||
| 4110 | chrX | 25004789 | C | T |
c.1570G>A
|
p.Ala524Thr
|
- | 3.0 |
|
B | |
| 4872 | chrX | 30218685 | A | C |
c.105A>C
|
p.Glu35Asp
|
- | 3.0 |
|
B | |
| 3470 | chrX | 30219343 | G | A |
c.763G>A
|
p.Glu255Lys
|
- | 3.0 |
|
B | |
| 3345 | chrX | 30251156 | G | A |
c.663G>A
|
p.Trp221Ter
|
3.0 |
|
B | ||
| 16266 | chrX | 32154467 | A | C |
c.6438+62449T>G
|
-
|
1.0 |
|
B | ||
| 4567 | chrX | 33339259 | C | A |
c.7G>T
|
p.Asp3Tyr
|
3.0 |
|
B | ||
| 4873 | chrX | 36047047 | G | C |
c.4201G>C
|
p.Asp1401His
|
- | 3.0 |
|
B | |
| 4126 | chrX | 36047050 | G | C |
c.4204G>C
|
p.Asp1402His
|
- | 3.0 |
|
B | |
| 3500 | chrX | 36228819 | C | T |
c.7009C>T
|
p.Pro2337Ser
|
- | 3.0 |
|
B | |
| 19277 | chrX | 38273375 | A | G |
c.2856+11T>C
|
-
|
1.0 |
|
B | ||
| 5391 | chrX | 38285754 | C | A |
c.3245G>T
|
p.Gly1082Val
|
- | 3.0 |
|
B | |
| 15660 | chrX | 38286399 | C | T |
c.2600G>A
|
p.Gly867Glu
|
- | 3.0 |
|
B | |
| 759 | chrX | 38286916 | C | G |
c.2083G>C
|
p.Glu695Gln
|
- | 3.0 |
|
B | |
| 2335 | chrX | 38286920 | C | G |
c.2079G>C
|
p.Glu693Asp
|
- | 3.0 |
|
B | |
| 797 | chrX | 38286985 | C | T |
c.2014G>A
|
p.Glu672Lys
|
- | 3.0 |
|
B | |
| 15641 | chrX | 38287240 | G | T |
c.1759C>A
|
p.Pro587Thr
|
- | 3.0 |
|
B |