Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8707 | chrX | 147943290 | AG | A |
c.1440del
|
p.His481ThrfsTer35
|
- | 3.0 |
|
B | |
| 14644 | chrX | 147943311 | C | T |
c.1456C>T
|
p.Pro486Ser
|
3.0 |
|
B | ||
| 34052 | chrX | 147944960 | G | A |
c.1563G>A
|
p.Glu521=
|
- | 3.0 |
|
B | |
| 14616 | chrX | 147944977 | G | A |
c.1580G>A
|
p.Arg527His
|
3.0 |
|
B | ||
| 28098 | chrX | 147944992 | G | T |
c.1595G>T
|
p.Arg532Leu
|
- | 3.0 |
|
B | |
| 15130 | chrX | 147945070 | A | C |
c.1654+19A>C
|
-
|
- | 3.0 |
|
B | |
| 11587 | chrX | 147945518 | G | C |
c.1655-16G>C
|
-
|
- | 3.0 |
|
B | |
| 32247 | chrX | 147945556 | A | T |
c.1677A>T
|
p.Thr559=
|
- | 3.0 |
|
B | |
| 6317 | chrX | 147945564 | G | A |
c.1685G>A
|
p.Arg562His
|
- | 3.0 |
|
B | |
| 33748 | chrX | 147945570 | G | A |
c.1691G>A
|
p.Arg564His
|
3.0 |
|
B | ||
| 8111 | chrX | 147948756 | G | A |
c.1811G>A
|
p.Arg604Gln
|
3.0 |
|
B | ||
| 12410 | chrX | 147948802 | C | T |
c.1857C>T
|
p.Asp619=
|
2.0 |
|
B | ||
| 5761 | chrX | 150693540 | CCGG | C |
c.29_31del
|
p.Ala10del
|
3.0 |
|
B | ||
| 13599 | chrX | 151721501 | G | A |
c.341G>A
|
p.Arg114His
|
3.0 |
|
B | ||
| 20443 | chrX | 152701001 | G | A |
c.169G>A
|
p.Glu57Lys
|
3.0 |
|
B | ||
| 26531 | chrX | 152701238 | C | A |
c.406C>A
|
p.Leu136Met
|
- | 3.0 |
|
B | |
| 25775 | chrX | 152701412 | C | T |
c.580C>T
|
p.Gln194Ter
|
- | 3.0 |
|
B | |
| 28941 | chrX | 152701526 | G | A |
c.694G>A
|
p.Glu232Lys
|
- | 3.0 |
|
B | |
| 30162 | chrX | 152701583 | G | A |
c.751G>A
|
p.Val251Met
|
3.0 |
|
B | ||
| 3478 | chrX | 153073500 | G | C |
c.438G>C
|
p.Trp146Cys
|
- | 3.0 |
|
B |