Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30615 | chr9 | 125189658 | C | T |
c.61G>A
|
p.Glu21Lys
|
3.0 |
|
B | ||
| 22757 | chr9 | 127786752 | G | A |
c.144G>A
|
p.Lys48=
|
- | 3.0 |
|
B | |
| 12331 | chr9 | 127786799 | C | T |
c.174+17C>T
|
-
|
- | 3.0 |
|
B | |
| 22344 | chr9 | 127788311 | C | T |
c.530C>T
|
p.Ala177Val
|
- | 3.0 |
|
B | |
| 15708 | chr9 | 127788696 | C | T |
c.753+4C>T
|
-
|
3.0 |
|
B | ||
| 30616 | chr9 | 127789165 | C | T |
c.754-13C>T
|
-
|
3.0 |
|
B | ||
| 27765 | chr9 | 127789190 | G | A |
c.766G>A
|
p.Val256Met
|
3.0 |
|
B | ||
| 22695 | chr9 | 127818784 | G | T |
c.1360C>A
-
|
p.Leu454Ile
-
|
- | 3.0 |
|
B | |
| 35390 | chr9 | 127819658 | C | T |
c.1275G>A
|
p.Ala425=
|
2.0 |
|
B | ||
| 26966 | chr9 | 127819889 | C | G |
c.1272+11G>C
|
-
|
- | 3.0 |
|
B | |
| 13247 | chr9 | 127824443 | C | T |
c.995G>A
|
p.Gly332Asp
|
- | 3.0 |
|
B | |
| 16337 | chr9 | 127824853 | G | A |
c.938C>T
|
p.Ser313Phe
|
- | 3.0 |
|
B | |
| 25886 | chr9 | 127824887 | C | T |
c.904G>A
|
p.Glu302Lys
|
- | 3.0 |
|
B | |
| 17909 | chr9 | 127824929 | G | A |
c.862C>T
|
p.Arg288Cys
|
2.0 |
|
B | ||
| 13683 | chr9 | 127825212 | G | A |
c.816+19C>T
|
-
|
2.5 |
|
B | ||
| 23654 | chr9 | 127825804 | G | C |
c.580C>G
|
p.Leu194Val
|
- | 3.0 |
|
B | |
| 28809 | chr9 | 127829703 | G | A |
c.344C>T
|
p.Pro115Leu
|
2.0 |
|
B | ||
| 31653 | chr9 | 127829709 | C | T |
c.338G>A
|
p.Gly113Glu
|
3.0 |
|
B | ||
| 24939 | chr9 | 127843098 | G | T |
c.215C>A
|
p.Pro72Gln
|
- | 3.0 |
|
B | |
| 34418 | chr9 | 127843099 | G | T |
c.214C>A
|
p.Pro72Thr
|
- | 3.0 |
|
B |