Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22419 | chrX | 1295445 | G | A |
c.799G>A
|
p.Glu267Lys
|
- | 3.0 |
|
B | |
| 19252 | chrX | 1300506 | G | T |
c.826G>T
|
p.Asp276Tyr
|
- | 3.0 |
|
B | |
| 27043 | chrX | 1300552 | AAC | A |
c.876_877del
|
p.His292GlnfsTer19
|
- | 3.0 |
|
B | |
| 30713 | chrX | 1300641 | G | A |
c.946+15G>A
|
-
|
- | 3.0 |
|
B | |
| 33324 | chrX | 1303299 | A | G |
c.947-624A>G
|
-
|
2.0 |
|
B | ||
| 31422 | chrX | 1303323 | T | C |
c.947-600T>C
|
-
|
2.5 |
|
B | ||
| 31423 | chrX | 1303332 | C | T |
c.947-591C>T
|
-
|
2.5 |
|
B | ||
| 17844 | chrX | 1303355 | A | C |
c.947-568A>C
|
-
|
3.0 |
|
B | ||
| 20473 | chrX | 1305618 | T | A |
c.1125+91T>A
|
-
|
- | 3.0 |
|
B | |
| 29533 | chrX | 1305706 | C | T |
c.1125+179C>T
|
-
|
- | 3.0 |
|
B | |
| 31229 | chrX | 1309410 | G | A |
c.1134G>A
|
p.Trp378Ter
|
- | 3.0 |
|
B | |
| 18621 | chrX | 1309447 | G | A |
c.1171G>A
|
p.Glu391Lys
|
3.0 |
|
B | ||
| 20976 | chrX | 1309468 | G | A |
c.1192G>A
|
p.Glu398Lys
|
- | 3.0 |
|
B | |
| 13131 | chrX | 2691417 | C | T |
c.57C>T
|
p.Val19=
|
- | 3.0 |
|
B | |
| 21680 | chrX | 2691789 | G | A |
c.67+362G>A
|
-
|
3.0 |
|
B | ||
| 33965 | chrX | 2719674 | C | G |
c.162C>G
|
p.Asp54Glu
|
- | 3.0 |
|
B | |
| 32994 | chrX | 2719708 | G | A |
c.193+3G>A
|
-
|
- | 3.0 |
|
B | |
| 17429 | chrX | 2722651 | C | A |
c.287C>A
|
p.Ala96Glu
|
- | 3.0 |
|
B | |
| 12419 | chrX | 2726261 | C | T |
c.363C>T
|
p.Ala121=
|
1.0 |
|
B | ||
| 30670 | chrX | 2726265 | G | A |
c.367G>A
|
p.Ala123Thr
|
3.0 |
|
B |