Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3468 | chr22 | 50548398 | C | T |
c.2155C>T
-
|
p.Pro719Ser
-
|
- | 3.0 |
|
B | |
| 3343 | chr22 | 50697652 | G | A |
c.1036G>A
|
p.Val346Met
|
3.0 |
|
B | ||
| 3344 | chr22 | 50697676 | G | A |
c.1060G>A
|
p.Glu354Lys
|
- | 3.0 |
|
B | |
| 3762 | chr22 | 50721120 | C | T |
c.2888C>T
|
p.Pro963Leu
|
3.0 |
|
B | ||
| 3763 | chrX | 315236 | G | A |
c.551C>T
|
p.Pro184Leu
|
3.0 |
|
B | ||
| 22062 | chrX | 1191018 | TC | T |
c.994del
|
p.Glu332ArgfsTer31
|
- | 3.0 |
|
B | |
| 23712 | chrX | 1191054 | T | A |
c.959A>T
|
p.Glu320Val
|
- | 3.0 |
|
B | |
| 32592 | chrX | 1193277 | C | G |
c.793G>C
|
p.Val265Leu
|
- | 3.0 |
|
B | |
| 14470 | chrX | 1193294 | T | G |
c.776A>C
|
p.Lys259Thr
|
- | 3.0 |
|
B | |
| 33678 | chrX | 1193300 | A | T |
c.770T>A
|
p.Val257Glu
|
- | 3.0 |
|
B | |
| 18620 | chrX | 1193316 | G | A |
c.768-14C>T
|
-
|
3.0 |
|
B | ||
| 11539 | chrX | 1196761 | C | T |
c.767+19G>A
|
-
|
3.0 |
|
B | ||
| 11854 | chrX | 1196775 | C | T |
c.767+5G>A
|
-
|
- | 3.0 |
|
B | |
| 28129 | chrX | 1202382 | G | A |
c.483+20C>T
|
-
|
- | 3.0 |
|
B | |
| 32775 | chrX | 1202386 | C | T |
c.483+16G>A
|
-
|
3.0 |
|
B | ||
| 10048 | chrX | 1202430 | T | C |
c.455A>G
|
p.Tyr152Cys
|
- | 3.0 |
|
B | |
| 18533 | chrX | 1202481 | G | A |
c.404C>T
|
p.Thr135Met
|
3.0 |
|
B | ||
| 22978 | chrX | 1202511 | A | C |
c.374T>G
|
p.Val125Gly
|
- | 3.0 |
|
B | |
| 21352 | chrX | 1202534 | C | T |
c.351G>A
|
p.Leu117=
|
3.0 |
|
B | ||
| 33163 | chrX | 1202540 | G | A |
c.350-5C>T
|
-
|
- | 3.0 |
|
B |