Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2256 | chr9 | 132921376 | GT | G |
c.723del
|
p.Glu241AspfsTer10
|
- | 4.0 |
|
B | |
| 16136 | chr9 | 132921427 | C | A |
c.673G>T
|
p.Glu225Ter
|
- | 4.0 |
|
B | |
| 23696 | chr9 | 132921833 | C | T |
c.649G>A
|
p.Glu217Lys
|
- | 3.0 |
|
B | |
| 19077 | chr9 | 132921856 | A | G |
c.626T>C
|
p.Met209Thr
|
- | 3.0 |
|
B | |
| 24420 | chr9 | 132921916 | TGAAAGAGTGC | T |
c.556_565del
|
p.Ala186IlefsTer21
|
- | 4.0 |
|
B | |
| 25234 | chr9 | 132923347 | C | G |
c.508+1G>C
|
p.?
|
4.0 |
|
B | ||
| 32284 | chr9 | 132925586 | C | A |
c.363+1G>T
|
p.?
|
4.5 |
|
B | ||
| 12516 | chr9 | 132925603 | AAAG | A |
c.344_346del
|
p.Ser115del
|
3.0 |
|
B | ||
| 9204 | chr9 | 132927260 | C | G |
c.151G>C
|
p.Glu51Gln
|
2.5 |
|
B | ||
| 10290 | chr9 | 132927280 | G | A |
c.131C>T
|
p.Thr44Ile
|
- | 3.0 |
|
B | |
| 32974 | chr9 | 133100309 | G | A |
c.2528C>T
|
p.Pro843Leu
|
3.0 |
|
B | ||
| 26015 | chr9 | 133102021 | G | A |
c.2128C>T
|
p.His710Tyr
|
- | 3.0 |
|
B | |
| 15452 | chr9 | 133103757 | T | TC |
c.1747dup
|
p.Asp583GlyfsTer11
|
- | 3.0 |
|
B | |
| 27425 | chr9 | 133103821 | C | T |
c.1684G>A
|
p.Gly562Ser
|
- | 3.0 |
|
B | |
| 30617 | chr9 | 133104246 | G | A |
c.1671+17C>T
|
-
|
- | 3.0 |
|
B | |
| 18399 | chr9 | 133107264 | C | T |
c.1234G>A
|
p.Gly412Ser
|
- | 3.0 |
|
B | |
| 19938 | chr9 | 133107988 | C | T |
c.1197G>A
|
p.Ala399=
|
3.0 |
|
B | ||
| 15355 | chr9 | 133108795 | G | A |
c.656C>T
|
p.Pro219Leu
|
- | 3.0 |
|
B | |
| 27353 | chr9 | 133109657 | C | T |
c.553G>A
|
p.Glu185Lys
|
3.0 |
|
B | ||
| 17842 | chr9 | 133110424 | C | CTGGAGAAGCTGGTGGAGCACCTG |
c.359_360insCAGGTGCTCCACCAGCTTCTCCA
|
p.Leu121ArgfsTer155
|
- | 3.0 |
|
B |