Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2159 | chr2 | 15940642 | A | G |
c.-219A>G
|
-
|
- | 3.0 |
|
B | |
| 5695 | chr2 | 15940681 | C | A |
c.-180C>A
|
-
|
- | 3.0 |
|
B | |
| 34501 | chr2 | 15940717 | C | T |
c.-144C>T
|
-
|
- | 3.0 |
|
B | |
| 30969 | chr2 | 15941939 | C | T |
c.-117-9C>T
|
-
|
2.0 |
|
B | ||
| 1759 | chr2 | 15942080 | A | C |
c.16A>C
|
p.Thr6Pro
|
- | 3.0 |
|
B | |
| 29262 | chr2 | 15942135 | T | C |
c.71T>C
|
p.Leu24Pro
|
- | 3.0 |
|
B | |
| 15077 | chr2 | 15942158 | G | A |
c.94G>A
|
p.Glu32Lys
|
3.0 |
|
B | ||
| 2016 | chr2 | 15942195 | C | T |
c.131C>T
|
p.Pro44Leu
|
3.5 |
|
B | ||
| 5870 | chr2 | 15942269 | G | A |
c.205G>A
|
p.Glu69Lys
|
3.0 |
|
B | ||
| 9110 | chr2 | 15942392 | G | A |
c.328G>A
|
p.Val110Ile
|
- | 3.0 |
|
B | |
| 31521 | chr2 | 15942612 | C | T |
c.548C>T
|
p.Ala183Val
|
- | 3.0 |
|
B | |
| 29544 | chr2 | 15942639 | T | A |
c.575T>A
|
p.Val192Asp
|
- | 3.0 |
|
B | |
| 32794 | chr2 | 15942797 | A | T |
c.733A>T
|
p.Ser245Cys
|
- | 3.0 |
|
B | |
| 7671 | chr2 | 15945631 | C | T |
c.929C>T
|
p.Pro310Leu
|
- | 3.0 |
|
B | |
| 19950 | chr2 | 15945633 | G | A |
c.931G>A
|
p.Gly311Arg
|
- | 3.0 |
|
B | |
| 35378 | chr2 | 15945817 | C | T |
c.1115C>T
|
p.Pro372Leu
|
- | 3.0 |
|
B | |
| 10806 | chr2 | 15945820 | G | A |
c.1118G>A
|
p.Arg373Gln
|
- | 3.0 |
|
B | |
| 20274 | chr2 | 15945836 | G | T |
c.1134G>T
|
p.Glu378Asp
|
- | 3.0 |
|
B | |
| 32682 | chr2 | 15945846 | C | T |
c.1144C>T
|
p.Arg382Cys
|
3.0 |
|
B | ||
| 903 | chr2 | 15945882 | C | G |
c.1180C>G
|
p.Arg394Gly
|
- | 3.0 |
|
B |