Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16195 | chrX | 124346774 | T | A |
c.132T>A
|
p.Cys44Ter
|
- | 3.5 |
|
B | |
| 6897 | chrX | 124346792 | C | T |
c.137+13C>T
|
-
|
3.0 |
|
B | ||
| 18524 | chrX | 124365746 | T | G |
c.138-15T>G
|
-
|
- | 3.0 |
|
B | |
| 15003 | chrX | 124365792 | T | C |
c.169T>C
|
p.Ser57Pro
|
- | 3.0 |
|
B | |
| 35375 | chrX | 124370198 | G | T |
c.224G>T
|
p.Arg75Ile
|
- | 3.0 |
|
B | |
| 29172 | chrX | 124370262 | A | T |
c.288A>T
|
p.Ile96=
|
- | 3.0 |
|
B | |
| 34935 | chrX | 124370311 | G | A |
c.337G>A
|
p.Gly113Ser
|
- | 3.0 |
|
B | |
| 25261 | chrX | 126164603 | A | G |
c.1322T>C
|
p.Met441Thr
|
- | 3.0 |
|
B | |
| 27728 | chrX | 126164654 | A | T |
c.1271T>A
|
p.Met424Lys
|
- | 3.0 |
|
B | |
| 32397 | chrX | 126164741 | G | A |
c.1184C>T
|
p.Pro395Leu
|
- | 3.0 |
|
B | |
| 34359 | chrX | 126164799 | C | T |
c.1126G>A
|
p.Asp376Asn
|
- | 3.0 |
|
B | |
| 16389 | chrX | 126164817 | C | A |
c.1108G>T
|
p.Gly370Cys
|
- | 3.0 |
|
B | |
| 14295 | chrX | 126164886 | G | A |
c.1039C>T
|
p.Arg347Ter
|
- | 3.0 |
|
B | |
| 29595 | chrX | 126164915 | C | T |
c.1010G>A
|
p.Arg337His
|
3.0 |
|
B | ||
| 32572 | chrX | 126164921 | C | T |
c.1004G>A
|
p.Arg335His
|
3.0 |
|
B | ||
| 26205 | chrX | 126164922 | G | A |
c.1003C>T
|
p.Arg335Cys
|
3.0 |
|
B | ||
| 27202 | chrX | 126164925 | G | A |
c.1000C>T
|
p.Pro334Ser
|
3.0 |
|
B | ||
| 34663 | chrX | 126165129 | G | A |
c.796C>T
|
p.Arg266Trp
|
3.0 |
|
B | ||
| 17486 | chrX | 126165225 | G | T |
c.700C>A
|
p.His234Asn
|
- | 3.0 |
|
B | |
| 28940 | chrX | 126165242 | T | A |
c.683A>T
|
p.Asn228Ile
|
- | 3.0 |
|
B |