Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28153 | chrX | 153960135 | G | T |
c.1111C>A
|
p.Gln371Lys
|
- | 3.0 |
|
B | |
| 21682 | chrX | 153960361 | G | A |
c.958C>T
|
p.Arg320Cys
|
3.0 |
|
B | ||
| 11348 | chrX | 153961590 | G | A |
c.856C>T
|
p.His286Tyr
|
- | 3.0 |
|
B | |
| 9515 | chrX | 153961649 | C | T |
c.798-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 13895 | chrX | 153963356 | C | T |
c.581G>A
|
p.Gly194Glu
|
- | 3.0 |
|
B | |
| 17538 | chrX | 153963402 | G | A |
c.535C>T
|
p.Arg179Trp
|
3.0 |
|
B | ||
| 10053 | chrX | 153963436 | G | A |
c.504-3C>T
|
-
|
3.0 |
|
B | ||
| 4424 | chrX | 153964278 | G | A |
c.349C>T
|
p.Arg117Trp
|
- | 3.0 |
|
B | |
| 33076 | chrX | 153964573 | T | A |
c.342+5A>T
|
-
|
- | 3.0 |
|
B | |
| 16460 | chrX | 153970706 | G | A |
c.135C>T
-
|
p.Ile45=
-
|
3.0 |
|
B | ||
| 20871 | chrX | 153970708 | T | G |
c.133A>C
-
|
p.Ile45Leu
-
|
- | 3.0 |
|
B | |
| 35489 | chrX | 154348866 | G | A |
c.7927C>T
|
p.Arg2643Cys
|
2.0 |
|
B | ||
| 19953 | chrX | 154349342 | C | A |
c.7756+20G>T
|
-
|
2.0 |
|
B | ||
| 19285 | chrX | 154349351 | A | G |
c.7756+11T>C
|
-
|
1.0 |
|
B | ||
| 24781 | chrX | 154349567 | T | A |
c.7553-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 30214 | chrX | 154352541 | C | T |
c.6502+12G>A
|
-
|
- | 3.0 |
|
B | |
| 27908 | chrX | 154352789 | G | A |
c.6362C>T
|
p.Ala2121Val
|
3.0 |
|
B | ||
| 17443 | chrX | 154352934 | G | A |
c.6227-10C>T
|
-
|
2.0 |
|
B | ||
| 30891 | chrX | 154353126 | G | A |
c.6101C>T
|
p.Pro2034Leu
|
- | 3.0 |
|
B | |
| 24342 | chrX | 154353341 | G | A |
c.5977C>T
|
p.Arg1993Trp
|
2.0 |
|
B |