Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29253 | chr9 | 22006256 | G | A |
c.157-9C>T
|
-
|
3.0 |
|
B | ||
| 26713 | chr9 | 22008758 | C | G |
c.156+40G>C
|
-
|
- | 3.0 |
|
B | |
| 572 | chr9 | 22008918 | GC | G |
c.35del
|
p.Gly12AlafsTer15
|
- | 4.0 |
|
B | |
| 13978 | chr9 | 22008955 | C | T |
c.-2G>A
|
-
|
- | 3.5 |
|
B | |
| 4839 | chr9 | 27009018 | AGGAAAGAAAAAC | A |
c.588-1_598del
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 20051 | chr9 | 27158027 | TA | T |
c.255del
|
p.Val86LeufsTer31
|
- | 3.0 |
|
B | |
| 15676 | chr9 | 27158101 | G | A |
c.323G>A
|
p.Gly108Glu
|
- | 3.0 |
|
B | |
| 32072 | chr9 | 27158129 | G | C |
c.351G>C
|
p.Lys117Asn
|
- | 3.0 |
|
B | |
| 28704 | chr9 | 27168555 | C | T |
c.425C>T
|
p.Ser142Phe
|
- | 3.0 |
|
B | |
| 7307 | chr9 | 27169584 | G | A |
c.583G>A
|
p.Gly195Arg
|
- | 3.0 |
|
B | |
| 23947 | chr9 | 27172604 | C | A |
c.629-12C>A
|
-
|
- | 3.0 |
|
B | |
| 13920 | chr9 | 27173278 | G | A |
c.817G>A
|
p.Gly273Arg
|
- | 3.0 |
|
B | |
| 24565 | chr9 | 27183452 | C | T |
c.1031-7C>T
|
-
|
- | 3.0 |
|
B | |
| 28960 | chr9 | 27190634 | C | T |
c.1433C>T
|
p.Ser478Phe
|
- | 3.0 |
|
B | |
| 30240 | chr9 | 27192527 | C | T |
c.1528C>T
|
p.Arg510Trp
|
3.0 |
|
B | ||
| 22894 | chr9 | 27192557 | G | A |
c.1558G>A
|
p.Val520Ile
|
- | 3.0 |
|
B | |
| 12349 | chr9 | 27192561 | G | A |
c.1562G>A
|
p.Arg521His
|
3.0 |
|
B | ||
| 20963 | chr9 | 27192563 | C | T |
c.1564C>T
|
p.Arg522Cys
|
3.0 |
|
B | ||
| 32719 | chr9 | 27192602 | C | T |
c.1603C>T
|
p.Arg535Cys
|
2.0 |
|
B | ||
| 21035 | chr9 | 27197401 | G | A |
c.1711G>A
|
p.Glu571Lys
|
3.0 |
|
B |