Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20546 | chrX | 48266392 | G | A |
c.*4+1G>A
|
p.?
|
2.5 |
|
B | ||
| 33736 | chrX | 48384542 | CT | C |
c.70-5del
|
-
|
- | 3.0 |
|
B | |
| 20190 | chrX | 48384542 | CTTT | C |
c.70-7_70-5del
|
-
|
3.0 |
|
B | ||
| 28328 | chrX | 48384585 | T | G |
c.94T>G
|
p.Phe32Val
|
- | 3.0 |
|
B | |
| 25865 | chrX | 48384675 | G | T |
c.184G>T
|
p.Gly62Cys
|
- | 3.0 |
|
B | |
| 33224 | chrX | 48683954 | G | A |
c.101G>A
|
p.Arg34Gln
|
3.0 |
|
B | ||
| 34395 | chrX | 48684406 | C | T |
c.256C>T
|
p.Arg86Cys
|
3.0 |
|
B | ||
| 25652 | chrX | 48685570 | G | A |
c.297G>A
|
p.Gln99=
|
- | 3.0 |
|
B | |
| 3938 | chrX | 48685581 | C | A |
c.308C>A
|
p.Ser103Ter
|
- | 3.0 |
|
B | |
| 14167 | chrX | 48685598 | AC | A |
c.330del
|
p.Thr111ProfsTer16
|
- | 3.5 |
|
B | |
| 21250 | chrX | 48685723 | G | A |
c.361-11G>A
|
-
|
- | 3.0 |
|
B | |
| 11062 | chrX | 48685763 | C | A |
c.390C>A
|
p.Asp130Glu
|
- | 3.0 |
|
B | |
| 11063 | chrX | 48685764 | G | T |
c.391G>T
|
p.Glu131Ter
|
- | 3.0 |
|
B | |
| 15731 | chrX | 48685786 | G | A |
c.413G>A
|
p.Arg138Gln
|
2.0 |
|
B | ||
| 7894 | chrX | 48685951 | C | T |
c.469C>T
|
p.Arg157Cys
|
3.0 |
|
B | ||
| 5846 | chrX | 48686139 | G | A |
c.559+5G>A
|
-
|
3.0 |
|
B | ||
| 32872 | chrX | 48686764 | C | T |
c.560-17C>T
|
-
|
- | 3.0 |
|
B | |
| 17726 | chrX | 48686814 | C | T |
c.593C>T
|
p.Ala198Val
|
2.0 |
|
B | ||
| 1015 | chrX | 48686907 | GGAA | G |
c.695_697del
|
p.Lys232del
|
2.0 |
|
B | ||
| 6458 | chrX | 48688096 | C | T |
c.777C>T
|
p.Asp259=
|
- | 3.0 |
|
B |