Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15389 | chrX | 119633404 | G | A |
c.1045C>T
|
p.Arg349Ter
|
3.0 |
|
B | ||
| 21434 | chrX | 119637156 | T | C |
c.827A>G
|
p.Glu276Gly
|
- | 3.0 |
|
B | |
| 26409 | chrX | 119640721 | G | A |
c.758C>T
|
p.Ala253Val
|
3.0 |
|
B | ||
| 21091 | chrX | 119640724 | C | CTCATCATCTTGTTGCCTATCTTCAGTTCT |
c.726_754dup
|
p.Arg252LysfsTer3
|
- | 3.0 |
|
B | |
| 27430 | chrX | 119663466 | C | T |
c.341+16G>A
|
-
|
3.0 |
|
B | ||
| 15910 | chrX | 119663531 | T | G |
c.292A>C
|
p.Thr98Pro
|
- | 3.0 |
|
B | |
| 34050 | chrX | 119663662 | C | A |
c.161G>T
|
p.Gly54Val
|
- | 3.0 |
|
B | |
| 17439 | chrX | 119834969 | G | A |
c.1361C>T
|
p.Pro454Leu
|
- | 3.0 |
|
B | |
| 9487 | chrX | 119834979 | G | A |
c.1351C>T
|
p.Arg451Ter
|
- | 3.0 |
|
B | |
| 32160 | chrX | 119834991 | G | A |
c.1339C>T
|
p.Arg447Ter
|
- | 3.0 |
|
B | |
| 11787 | chrX | 119837978 | G | A |
c.1081C>T
|
p.Arg361Ter
|
- | 3.0 |
|
B | |
| 34051 | chrX | 119837998 | C | A |
c.1061G>T
|
p.Arg354Leu
|
- | 3.0 |
|
B | |
| 8487 | chrX | 119838462 | C | A |
c.912G>T
|
p.Leu304Phe
|
- | 3.0 |
|
B | |
| 29579 | chrX | 119841101 | T | C |
c.782A>G
|
p.Lys261Arg
|
- | 3.0 |
|
B | |
| 16660 | chrX | 119845181 | T | A |
c.469+17A>T
|
-
|
- | 3.0 |
|
B | |
| 8765 | chrX | 119845260 | A | C |
c.407T>G
|
p.Phe136Cys
|
- | 3.0 |
|
B | |
| 15065 | chrX | 119851607 | G | A |
c.264-6C>T
|
-
|
2.5 |
|
B | ||
| 26744 | chrX | 119852941 | C | G |
c.-13G>C
|
-
|
2.0 |
|
B | ||
| 27507 | chrX | 120526806 | C | T |
c.2643G>A
|
p.Met881Ile
|
- | 3.0 |
|
B | |
| 30211 | chrX | 120530100 | A | T |
c.2592+2T>A
|
p.?
|
- | 3.0 |
|
B |