Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10458 | chrX | 77697585 | CTT | C |
c.238_239del
|
p.Lys80GlufsTer14
|
- | 4.0 |
|
B | |
| 35555 | chrX | 77698596 | A | G |
c.167T>C
|
p.Met56Thr
|
2.5 |
|
B | ||
| 30138 | chrX | 77785970 | G | A |
c.20+12C>T
|
-
|
2.0 |
|
B | ||
| 4799 | chrX | 78131613 | C | T |
-
c.753G>A
|
-
p.Met251Ile
|
- | 3.0 |
|
B | |
| 3475 | chrX | 78657738 | G | A |
c.683C>T
|
p.Pro228Leu
|
3.0 |
|
B | ||
| 5242 | chrX | 78755107 | A | C |
c.238A>C
|
p.Asn80His
|
- | 3.0 |
|
B | |
| 4454 | chrX | 85107375 | T | C |
c.1594A>G
|
p.Arg532Gly
|
- | 3.0 |
|
B | |
| 3502 | chrX | 85282312 | C | T |
c.1655G>A
|
p.Arg552Lys
|
3.0 |
|
B | ||
| 5243 | chrX | 96884755 | G | T |
c.587+3037G>T
c.445G>T
|
-
p.Glu149Ter
|
- | 3.0 |
|
B | |
| 3476 | chrX | 100862688 | G | A |
c.470C>T
|
p.Pro157Leu
|
- | 3.0 |
|
B | |
| 30032 | chrX | 101353305 | C | G |
c.1797G>C
-
|
p.Glu599Asp
-
|
- | 3.0 |
|
B | |
| 12927 | chrX | 101354688 | G | A |
-
|
-
|
-
|
3.0 |
|
B | |
| 12928 | chrX | 101354696 | T | A |
-
|
-
|
-
|
3.0 |
|
B | |
| 18523 | chrX | 101354713 | C | T |
c.1567-19G>A
|
-
|
- | 3.0 |
|
B | |
| 22217 | chrX | 101356067 | G | T |
c.1551C>A
|
p.Phe517Leu
|
- | 3.0 |
|
B | |
| 24080 | chrX | 101356159 | T | A |
c.1459A>T
|
p.Arg487Trp
|
- | 3.0 |
|
B | |
| 2329 | chrX | 101356805 | A | T |
c.1328T>A
|
p.Ile443Asn
|
- | 3.0 |
|
B | |
| 13957 | chrX | 101356838 | A | G |
c.1295T>C
|
p.Ile432Thr
|
3.0 |
|
B | ||
| 10593 | chrX | 101357505 | T | C |
c.1177+4A>G
|
-
|
- | 3.0 |
|
B | |
| 27785 | chrX | 101358325 | G | A |
c.1087C>T
|
p.Gln363Ter
|
- | 3.0 |
|
B |