Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2455 | chrX | 77508532 | A | G |
c.7298T>C
|
p.Leu2433Pro
|
- | 3.0 |
|
B | |
| 12081 | chrX | 77520768 | T | A |
c.7200+20A>T
|
-
|
- | 3.0 |
|
B | |
| 27124 | chrX | 77520831 | C | T |
c.7157G>A
|
p.Arg2386Gln
|
- | 3.0 |
|
B | |
| 31232 | chrX | 77520923 | G | A |
c.7072-7C>T
|
-
|
- | 3.0 |
|
B | |
| 5962 | chrX | 77522387 | C | G |
c.6851G>C
|
p.Gly2284Ala
|
- | 3.0 |
|
B | |
| 8249 | chrX | 77522388 | C | T |
c.6850G>A
|
p.Gly2284Arg
|
- | 3.0 |
|
B | |
| 28585 | chrX | 77523415 | T | A |
c.6700-14A>T
|
-
|
- | 3.0 |
|
B | |
| 7191 | chrX | 77557443 | A | G |
c.6699+8T>C
|
-
|
- | 2.5 |
|
B | |
| 9099 | chrX | 77557519 | C | T |
c.6631G>A
|
p.Glu2211Lys
|
- | 3.0 |
|
B | |
| 13603 | chrX | 77557582 | C | A |
c.6568G>T
|
p.Val2190Phe
|
- | 3.0 |
|
B | |
| 2175 | chrX | 77557584 | A | G |
c.6566T>C
|
p.Val2189Ala
|
- | 3.0 |
|
B | |
| 27287 | chrX | 77557588 | G | A |
c.6562C>T
|
p.Arg2188Ter
|
- | 4.0 |
|
B | |
| 18920 | chrX | 77557615 | G | A |
c.6535C>T
|
p.Gln2179Ter
|
- | 4.0 |
|
B | |
| 33623 | chrX | 77557630 | TATCTTCC | T |
c.6513_6519del
|
p.Met2171IlefsTer8
|
- | 4.0 |
|
B | |
| 12033 | chrX | 77557642 | T | G |
c.6508A>C
|
p.Thr2170Pro
|
- | 3.0 |
|
B | |
| 163 | chrX | 77557646 | C | T |
c.6505-1G>A
|
p.?
|
- | 4.67 |
|
A | |
| 33359 | chrX | 77558662 | A | T |
c.6504+7T>A
|
-
|
- | 3.0 |
|
B | |
| 23214 | chrX | 77558695 | C | T |
c.6478G>A
|
p.Val2160Ile
|
- | 3.0 |
|
B | |
| 33034 | chrX | 77558800 | T | A |
c.6373A>T
|
p.Asn2125Tyr
|
- | 3.0 |
|
B | |
| 2297 | chrX | 77558830 | TGATA | T |
c.6339_6342del
|
p.Phe2113LeufsTer9
|
- | 4.0 |
|
B |