Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25010 | chrX | 124086644 | G | T |
c.3151G>T
|
p.Gly1051Cys
|
- | 3.0 |
|
B | |
| 28500 | chrX | 124086704 | C | T |
c.3211C>T
|
p.Arg1071Trp
|
3.0 |
|
B | ||
| 17959 | chrX | 124086717 | C | G |
c.3224C>G
|
p.Ser1075Ter
|
- | 4.0 |
|
B | |
| 35228 | chrX | 124086737 | C | T |
c.3244C>T
|
p.Arg1082Trp
|
3.0 |
|
B | ||
| 20474 | chrX | 124090566 | C | A |
c.3278-9C>A
|
-
|
- | 2.5 |
|
B | |
| 2568 | chrX | 124090571 | C | A |
c.3278-4C>A
|
-
|
- | 2.5 |
|
B | |
| 27519 | chrX | 124090572 | C | T |
c.3278-3C>T
|
-
|
- | 3.0 |
|
B | |
| 10247 | chrX | 124090589 | A | C |
c.3292A>C
|
p.Ser1098Arg
|
- | 3.0 |
|
B | |
| 12681 | chrX | 124090623 | C | T |
c.3326C>T
|
p.Thr1109Ile
|
- | 3.0 |
|
B | |
| 18845 | chrX | 124090689 | G | A |
c.3392G>A
|
p.Arg1131Lys
|
- | 3.0 |
|
B | |
| 29069 | chrX | 124090715 | A | G |
c.3418A>G
|
p.Ser1140Gly
|
3.0 |
|
B | ||
| 8569 | chrX | 124090715 | AGT | A |
c.3421_3422del
|
p.Val1141LeufsTer6
|
- | 4.0 |
|
B | |
| 20870 | chrX | 124090886 | A | T |
c.3500A>T
|
p.Gln1167Leu
|
- | 3.0 |
|
B | |
| 34188 | chrX | 124090946 | C | G |
c.3560C>G
|
p.Thr1187Ser
|
- | 3.0 |
|
B | |
| 23322 | chrX | 124095390 | C | T |
c.3724C>T
|
p.Arg1242Ter
|
4.0 |
|
B | ||
| 15323 | chrX | 124100555 | C | CCT |
c.3784-7_3784-6dup
|
-
|
2.0 |
|
B | ||
| 11993 | chrX | 124346629 | G | T |
c.-14G>T
|
-
|
- | 3.0 |
|
B | |
| 9108 | chrX | 124346735 | G | A |
c.93G>A
|
p.Leu31=
|
- | 3.0 |
|
B | |
| 32245 | chrX | 124346754 | C | T |
c.112C>T
|
p.Pro38Ser
|
3.0 |
|
B | ||
| 33737 | chrX | 124346773 | G | A |
c.131G>A
|
p.Cys44Tyr
|
3.0 |
|
B |