Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5393 | chrX | 101358341 | CTCAGGGA | C |
c.1064_1070del
|
p.Ile355SerfsTer46
|
- | 3.0 |
|
B | |
| 26289 | chrX | 101358389 | C | G |
c.1023G>C
|
p.Gln341His
|
- | 3.0 |
|
B | |
| 4920 | chrX | 101358621 | T | A |
c.970A>T
|
p.Thr324Ser
|
- | 3.0 |
|
B | |
| 22426 | chrX | 101360611 | C | T |
c.733G>A
|
p.Glu245Lys
|
- | 3.0 |
|
B | |
| 7159 | chrX | 101362189 | G | A |
c.572C>T
|
p.Thr191Met
|
3.0 |
|
B | ||
| 10959 | chrX | 101362567 | T | C |
c.514A>G
|
p.Asn172Asp
|
- | 3.0 |
|
B | |
| 10735 | chrX | 101371680 | C | T |
c.262G>A
|
p.Glu88Lys
|
- | 3.0 |
|
B | |
| 2532 | chrX | 101374531 | C | T |
c.240+5G>A
|
-
|
- | 3.0 |
|
B | |
| 15427 | chrX | 101375185 | C | A |
c.100G>T
|
p.Val34Leu
|
- | 3.0 |
|
B | |
| 3058 | chrX | 101375185 | C | T |
c.100G>A
|
p.Val34Met
|
3.0 |
|
B | ||
| 4398 | chrX | 101375239 | G | T |
c.46C>A
|
p.Gln16Lys
|
- | 3.0 |
|
B | |
| 33065 | chrX | 101375305 | C | T |
c.-21G>A
|
-
|
- | 3.0 |
|
B | |
| 25654 | chrX | 101375333 | C | T |
c.-30-19G>A
|
-
|
- | 3.0 |
|
B | |
| 30524 | chrX | 101390509 | G | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 21433 | chrX | 101398386 | C | A |
c.983G>T
-
|
p.Gly328Val
-
|
- | 3.0 |
|
B | |
| 11403 | chrX | 101398564 | C | T |
c.805G>A
-
|
p.Val269Met
-
|
3.0 |
|
B | ||
| 15223 | chrX | 101400775 | G | A |
c.548-18C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 34164 | chrX | 101401679 | A | G |
c.500T>C
|
p.Leu167Pro
|
3.0 |
|
B | ||
| 3765 | chrX | 103080593 | G | A |
c.910C>T
|
p.Pro304Ser
|
- | 3.0 |
|
B | |
| 4563 | chrX | 105946444 | G | A |
c.4333G>A
|
p.Asp1445Asn
|
- | 3.0 |
|
B |