Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28398 | chrX | 47179468 | G | T |
c.874G>T
|
p.Glu292Ter
|
- | 4.0 |
|
B | |
| 8699 | chrX | 47179901 | ACCC | A |
c.924_926del
|
p.Asn308_Pro309delinsLys
|
- | 3.0 |
|
B | |
| 10013 | chrX | 47179915 | AT | A |
c.938del
|
p.Met313ArgfsTer22
|
- | 4.0 |
|
B | |
| 1173 | chrX | 47180252 | C | A |
c.1103C>A
|
p.Pro368Gln
|
- | 3.0 |
|
B | |
| 11681 | chrX | 47180406 | A | G |
c.1161-13A>G
|
-
|
- | 3.0 |
|
B | |
| 28532 | chrX | 47180417 | AG | A |
c.1162del
|
p.Asp388ThrfsTer97
|
- | 4.0 |
|
B | |
| 5348 | chrX | 47180486 | G | T |
c.1228G>T
|
p.Ala410Ser
|
- | 3.0 |
|
B | |
| 23218 | chrX | 47181223 | A | C |
c.1257A>C
|
p.Gln419His
|
- | 3.0 |
|
B | |
| 6862 | chrX | 47181251 | G | T |
c.1285G>T
|
p.Glu429Ter
|
- | 4.0 |
|
B | |
| 11346 | chrX | 47181341 | T | A |
c.1375T>A
|
p.Tyr459Asn
|
- | 3.0 |
|
B | |
| 4195 | chrX | 47181645 | A | AG |
c.1575+1dup
|
p.?
|
- | 4.0 |
|
B | |
| 15585 | chrX | 47181740 | CATGACCAGTCGT | C |
c.1576-6_1581del
|
p.?
|
- | 4.0 |
|
B | |
| 26029 | chrX | 47181845 | C | T |
c.1672C>T
|
p.Gln558Ter
|
- | 4.0 |
|
B | |
| 27044 | chrX | 47181867 | G | A |
c.1693+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 8511 | chrX | 47181950 | G | A |
c.1694-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 1391 | chrX | 47182005 | AC | A |
c.1753del
|
p.Gln585ArgfsTer119
|
- | 4.0 |
|
B | |
| 21906 | chrX | 47182029 | AC | A |
c.1776del
|
p.Asn593ThrfsTer111
|
- | 4.0 |
|
B | |
| 31985 | chrX | 47182237 | C | T |
c.1861C>T
|
p.Gln621Ter
|
- | 4.0 |
|
B | |
| 22474 | chrX | 47182291 | A | G |
c.1915A>G
|
p.Lys639Glu
|
- | 3.0 |
|
B | |
| 7799 | chrX | 47185102 | A | T |
c.1998A>T
|
p.Lys666Asn
|
- | 3.0 |
|
B |