Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15224 | chrX | 154353346 | G | A |
c.5972C>T
|
p.Ser1991Leu
|
2.0 |
|
B | ||
| 15786 | chrX | 154353726 | C | T |
c.5688G>A
|
p.Gly1896=
|
- | 2.0 |
|
B | |
| 27299 | chrX | 154353912 | C | T |
c.5686+3G>A
|
-
|
- | 3.0 |
|
B | |
| 21964 | chrX | 154354163 | T | A |
c.5545A>T
|
p.Met1849Leu
|
- | 3.0 |
|
B | |
| 18204 | chrX | 154354612 | G | A |
c.5313+4C>T
|
-
|
2.0 |
|
B | ||
| 15954 | chrX | 154357482 | G | A |
c.4897C>T
|
p.Arg1633Cys
|
2.5 |
|
B | ||
| 23641 | chrX | 154357574 | C | T |
c.4805G>A
|
p.Gly1602Asp
|
- | 3.0 |
|
B | |
| 18623 | chrX | 154358197 | A | G |
c.4755+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 14398 | chrX | 154358565 | AGGCCTGGCC | A |
c.4475-6_4477del
|
p.?
|
- | 3.0 |
|
B | |
| 15969 | chrX | 154359017 | C | A |
c.4441G>T
|
p.Ala1481Ser
|
- | 3.0 |
|
B | |
| 14262 | chrX | 154359240 | C | T |
c.4303+6G>A
|
-
|
- | 3.0 |
|
B | |
| 18430 | chrX | 154359272 | A | G |
c.4277T>C
|
p.Val1426Ala
|
3.0 |
|
B | ||
| 14765 | chrX | 154359312 | C | T |
c.4237G>A
|
p.Glu1413Lys
|
3.0 |
|
B | ||
| 29453 | chrX | 154359360 | C | T |
c.4189G>A
|
p.Glu1397Lys
|
2.5 |
|
B | ||
| 30684 | chrX | 154359391 | G | T |
c.4158C>A
|
p.Gly1386=
|
- | 3.0 |
|
B | |
| 15694 | chrX | 154359477 | C | T |
c.4142+7G>A
|
-
|
3.0 |
|
B | ||
| 22430 | chrX | 154359610 | G | A |
c.4016C>T
|
p.Pro1339Leu
|
3.0 |
|
B | ||
| 21831 | chrX | 154359783 | G | A |
c.3928C>T
|
p.Gln1310Ter
|
- | 3.0 |
|
B | |
| 31796 | chrX | 154359867 | C | T |
c.3844G>A
|
p.Ala1282Thr
|
3.0 |
|
B | ||
| 19828 | chrX | 154359974 | C | T |
c.3805+16G>A
|
-
|
2.0 |
|
B |