Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10099 | chr12 | 57466309 | G | A |
c.832G>A
|
p.Glu278Lys
|
3.0 |
|
B | ||
| 11048 | chr12 | 57467325 | T | C |
c.913-8T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 11049 | chr12 | 57467326 | C | A |
c.913-7C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 8958 | chr12 | 57467360 | C | T |
c.940C>T
-
|
p.Arg314Cys
-
|
3.0 |
|
B | ||
| 6559 | chr12 | 57467366 | G | A |
c.946G>A
-
|
p.Glu316Lys
-
|
3.0 |
|
B | ||
| 3186 | chr12 | 57468136 | C | T |
c.1220C>T
-
|
p.Pro407Leu
-
|
- | 3.0 |
|
B | |
| 2475 | chr12 | 57469418 | A | T |
c.1309-13A>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 1803 | chr12 | 57469425 | C | A |
c.1309-6C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 10935 | chr12 | 57469452 | G | T |
c.1330G>T
-
|
p.Ala444Ser
-
|
- | 3.0 |
|
B | |
| 15591 | chr12 | 57469608 | C | T |
c.1486C>T
-
|
p.Arg496Cys
-
|
3.0 |
|
B | ||
| 18360 | chr12 | 57469713 | T | G |
c.1576+15T>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 7813 | chr12 | 57469716 | G | A |
c.1576+18G>A
-
|
-
-
|
3.0 |
|
B | ||
| 34720 | chr12 | 57470337 | G | A |
c.1597G>A
-
|
p.Val533Met
-
|
3.0 |
|
B | ||
| 1788 | chr12 | 57470395 | C | T |
c.1655C>T
-
|
p.Ala552Val
-
|
- | 3.0 |
|
B | |
| 1789 | chr12 | 57470398 | A | C |
c.1658A>C
-
|
p.Tyr553Ser
-
|
- | 3.0 |
|
B | |
| 11968 | chr12 | 57470653 | G | A |
c.1913G>A
-
|
p.Arg638Lys
-
|
- | 3.0 |
|
B | |
| 15281 | chr12 | 57470711 | C | G |
c.1971C>G
-
|
p.Phe657Leu
-
|
- | 3.0 |
|
B | |
| 15282 | chr12 | 57470772 | C | G |
c.2032C>G
-
|
p.Pro678Ala
-
|
- | 3.0 |
|
B | |
| 25555 | chr12 | 57470834 | G | GGCAGCATTCTCAGT |
c.2095_2096insCAGCATTCTCAGTG
-
|
p.Asp699AlafsTer25
-
|
- | 3.0 |
|
B | |
| 10872 | chr12 | 57471076 | C | T |
c.2336C>T
-
|
p.Thr779Ile
-
|
3.0 |
|
B |