Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30055 | chr1 | 22775262 | G | A |
c.62-6159G>A
|
-
|
- | 3.0 |
|
B | |
| 15787 | chr1 | 22781404 | CTT | C |
c.62-15_62-14del
|
-
|
3.0 |
|
B | ||
| 6076 | chr1 | 22781484 | G | A |
c.125G>A
|
p.Gly42Glu
|
- | 3.0 |
|
B | |
| 19182 | chr1 | 22784386 | C | T |
c.127-6C>T
|
-
|
- | 3.0 |
|
B | |
| 18268 | chr1 | 22784387 | C | T |
c.127-5C>T
|
-
|
3.0 |
|
B | ||
| 23678 | chr1 | 22784485 | C | T |
c.220C>T
|
p.Arg74Trp
|
3.0 |
|
B | ||
| 3198 | chr1 | 22784765 | G | A |
c.500G>A
|
p.Gly167Glu
|
- | 3.0 |
|
B | |
| 33366 | chr1 | 22784848 | C | T |
c.583C>T
|
p.Arg195Cys
|
3.0 |
|
B | ||
| 2974 | chr1 | 22784983 | T | C |
c.718T>C
|
p.Tyr240His
|
- | 3.0 |
|
B | |
| 32449 | chr1 | 22863046 | C | T |
c.821C>T
|
p.Ser274Phe
|
3.0 |
|
B | ||
| 12898 | chr1 | 22863049 | G | C |
c.824G>C
|
p.Gly275Ala
|
- | 3.0 |
|
B | |
| 35105 | chr1 | 22863120 | G | T |
c.895G>T
|
p.Gly299Trp
|
- | 3.0 |
|
B | |
| 5057 | chr1 | 22863142 | G | A |
c.917G>A
|
p.Arg306His
|
3.0 |
|
B | ||
| 4577 | chr1 | 22864898 | C | T |
c.989C>T
|
p.Ala330Val
|
- | 3.0 |
|
B | |
| 11284 | chr1 | 22865018 | G | T |
c.1109G>T
|
p.Gly370Val
|
3.0 |
|
B | ||
| 9011 | chr1 | 22865084 | G | A |
c.1175G>A
|
p.Arg392His
|
3.0 |
|
B | ||
| 32713 | chr1 | 22882433 | G | C |
c.1378G>C
|
p.Asp460His
|
- | 3.0 |
|
B | |
| 21063 | chr1 | 22882452 | T | A |
c.1397T>A
|
p.Ile466Asn
|
- | 3.0 |
|
B | |
| 30431 | chr1 | 22892918 | G | A |
c.1463G>A
|
p.Ser488Asn
|
- | 3.0 |
|
B | |
| 7368 | chr1 | 22896407 | C | T |
c.1701-7C>T
|
-
|
- | 3.0 |
|
B |