Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14254 | chrX | 40074957 | T | A |
c.389A>T
|
p.Glu130Val
|
- | 3.0 |
|
B | |
| 20778 | chrX | 40074958 | C | T |
c.388G>A
|
p.Glu130Lys
|
3.0 |
|
B | ||
| 30254 | chrX | 40075012 | G | A |
c.334C>T
|
p.Leu112Phe
|
- | 3.0 |
|
B | |
| 15642 | chrX | 40075062 | C | A |
c.284G>T
|
p.Gly95Val
|
- | 3.0 |
|
B | |
| 15426 | chrX | 40075078 | A | C |
c.268T>G
|
p.Tyr90Asp
|
- | 3.0 |
|
B | |
| 12220 | chrX | 40077862 | CA | C |
c.67del
|
p.Cys23ValfsTer11
|
- | 4.0 |
|
B | |
| 4796 | chrX | 40655006 | G | A |
c.4027C>T
|
p.Pro1343Ser
|
- | 3.0 |
|
B | |
| 11329 | chrX | 41131465 | G | A |
c.251G>A
|
p.Trp84Ter
|
- | 3.0 |
|
B | |
| 28819 | chrX | 41136969 | C | T |
c.601C>T
|
p.Gln201Ter
|
- | 3.0 |
|
B | |
| 30051 | chrX | 41140977 | A | G |
c.782A>G
|
p.Gln261Arg
|
- | 3.0 |
|
B | |
| 5851 | chrX | 41141038 | G | A |
c.843G>A
|
p.Met281Ile
|
2.5 |
|
B | ||
| 20987 | chrX | 41141434 | G | A |
c.1161+3G>A
|
-
|
- | 3.0 |
|
B | |
| 16106 | chrX | 41143290 | G | A |
c.1162-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 13611 | chrX | 41143360 | G | C |
c.1231G>C
|
p.Glu411Gln
|
- | 3.0 |
|
B | |
| 12895 | chrX | 41143378 | CT | C |
c.1251del
|
p.Arg418ValfsTer9
|
- | 3.0 |
|
B | |
| 17902 | chrX | 41143392 | C | G |
c.1263C>G
|
p.Ile421Met
|
- | 3.0 |
|
B | |
| 27781 | chrX | 41144519 | T | G |
c.1315-3T>G
|
-
|
- | 3.0 |
|
B | |
| 12584 | chrX | 41148357 | A | T |
c.1420-12A>T
|
-
|
- | 3.0 |
|
B | |
| 22422 | chrX | 41148426 | C | T |
c.1477C>T
|
p.Arg493Cys
|
- | 3.0 |
|
B | |
| 4324 | chrX | 41148565 | G | T |
c.1616G>T
|
p.Ser539Ile
|
- | 3.0 |
|
B |