Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9844 | chr1 | 201066912 | C | T |
c.2632G>A
|
p.Val878Met
|
2.5 |
|
B | ||
| 11182 | chr1 | 201066963 | C | T |
c.2581G>A
|
p.Gly861Ser
|
3.0 |
|
B | ||
| 8321 | chr1 | 201066989 | G | C |
c.2555C>G
|
p.Thr852Arg
|
- | 3.0 |
|
B | |
| 27633 | chr1 | 201066999 | G | A |
c.2551-6C>T
|
-
|
- | 3.0 |
|
B | |
| 12150 | chr1 | 201070262 | G | A |
c.2360+10C>T
|
-
|
- | 2.5 |
|
B | |
| 30568 | chr1 | 201072835 | G | A |
c.2158-11C>T
|
-
|
- | 3.0 |
|
B | |
| 26220 | chr1 | 201073603 | C | T |
c.2103G>A
|
p.Met701Ile
|
3.0 |
|
B | ||
| 28845 | chr1 | 201074626 | C | T |
c.1949-6G>A
|
-
|
2.0 |
|
B | ||
| 11293 | chr1 | 201075507 | C | T |
c.1936G>A
|
p.Val646Ile
|
2.0 |
|
B | ||
| 19131 | chr1 | 201075531 | A | G |
c.1912T>C
|
p.Cys638Arg
|
- | 3.0 |
|
B | |
| 27716 | chr1 | 201075561 | C | T |
c.1882G>A
|
p.Gly628Ser
|
3.0 |
|
B | ||
| 21207 | chr1 | 201077078 | G | A |
c.1669C>T
|
p.Arg557Cys
|
3.0 |
|
B | ||
| 21261 | chr1 | 201077124 | A | T |
c.1623T>A
|
p.Tyr541Ter
|
- | 3.0 |
|
B | |
| 24682 | chr1 | 201078033 | G | A |
c.1465C>T
|
p.Arg489Cys
|
2.5 |
|
B | ||
| 28944 | chr1 | 201078061 | C | A |
c.1437G>T
|
p.Met479Ile
|
3.0 |
|
B | ||
| 18272 | chr1 | 201083149 | C | T |
c.1393+13G>A
|
-
|
2.0 |
|
B | ||
| 25281 | chr1 | 201083248 | C | T |
c.1307G>A
|
p.Trp436Ter
|
- | 3.0 |
|
B | |
| 26590 | chr1 | 201085426 | G | A |
c.1150+10C>T
|
-
|
- | 3.0 |
|
B | |
| 17565 | chr1 | 201085526 | G | A |
c.1060C>T
|
p.Arg354Trp
|
2.0 |
|
B | ||
| 30569 | chr1 | 201085581 | C | T |
c.1005G>A
|
p.Gly335=
|
- | 3.0 |
|
B |