Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26538 | chrX | 154360077 | C | T |
c.3718G>A
|
p.Val1240Met
|
- | 3.0 |
|
B | |
| 16873 | chrX | 154360121 | C | T |
c.3674G>A
|
p.Cys1225Tyr
|
- | 3.0 |
|
B | |
| 21134 | chrX | 154360207 | C | A |
c.3588G>T
|
p.Glu1196Asp
|
- | 3.0 |
|
B | |
| 26756 | chrX | 154360391 | T | C |
c.3404A>G
|
p.Asn1135Ser
|
- | 3.0 |
|
B | |
| 22431 | chrX | 154360597 | G | A |
c.3208-10C>T
|
-
|
- | 3.0 |
|
B | |
| 24712 | chrX | 154361445 | G | T |
c.3070C>A
|
p.Leu1024Met
|
- | 3.0 |
|
B | |
| 16874 | chrX | 154362166 | A | C |
c.2657-18T>G
|
-
|
- | 3.0 |
|
B | |
| 15955 | chrX | 154362479 | G | A |
c.2504C>T
|
p.Thr835Met
|
2.0 |
|
B | ||
| 26745 | chrX | 154362673 | C | T |
c.2392G>A
|
p.Glu798Lys
|
2.0 |
|
B | ||
| 22988 | chrX | 154364899 | G | A |
c.1750C>T
|
p.Pro584Ser
|
- | 3.0 |
|
B | |
| 21133 | chrX | 154366340 | T | C |
c.1196A>G
|
p.Asn399Ser
|
- | 3.0 |
|
B | |
| 22057 | chrX | 154366621 | T | C |
c.1006A>G
|
p.Asn336Asp
|
- | 3.0 |
|
B | |
| 32472 | chrX | 154366859 | G | A |
c.869-9C>T
|
-
|
2.0 |
|
B | ||
| 15695 | chrX | 154367630 | G | A |
c.720+11C>T
|
-
|
3.0 |
|
B | ||
| 26532 | chrX | 154367664 | C | A |
c.697G>T
|
p.Asp233Tyr
|
- | 3.0 |
|
B | |
| 32530 | chrX | 154367838 | TCACCCGGGGCACAGCTGTC | T |
c.607_622+3del
|
p.?
|
- | 3.0 |
|
B | |
| 19830 | chrX | 154368055 | T | C |
c.409A>G
|
p.Ile137Val
|
- | 3.0 |
|
B | |
| 16892 | chrX | 154371097 | G | T |
c.149C>A
|
p.Thr50Lys
|
- | 3.0 |
|
B | |
| 27843 | chrX | 154371176 | G | A |
c.70C>T
|
p.Arg24Trp
|
3.0 |
|
B | ||
| 23911 | chrX | 154399797 | A | T |
-
c.191-6A>T
|
-
-
|
- | 3.0 |
|
B |