Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22576 | chr9 | 32420997 | G | A |
c.940G>A
|
p.Glu314Lys
|
3.0 |
|
B | ||
| 22622 | chr9 | 32423302 | C | T |
c.971-17C>T
|
-
|
2.5 |
|
B | ||
| 20358 | chr9 | 32423322 | G | A |
c.974G>A
|
p.Arg325His
|
3.0 |
|
B | ||
| 30847 | chr9 | 32424555 | G | A |
c.1078G>A
|
p.Glu360Lys
|
- | 3.0 |
|
B | |
| 28434 | chr9 | 32425995 | C | A |
c.1346C>A
|
p.Ala449Glu
|
- | 3.0 |
|
B | |
| 29502 | chr9 | 32425995 | C | T |
c.1346C>T
|
p.Ala449Val
|
3.0 |
|
B | ||
| 24847 | chr9 | 32427427 | C | G |
c.1475C>G
|
p.Ser492Cys
|
- | 3.0 |
|
B | |
| 4120 | chr9 | 33264649 | C | T |
c.26G>A
-
|
p.Arg9Lys
-
|
- | 3.0 |
|
B | |
| 4701 | chr9 | 34297016 | C | T |
c.911+1G>A
|
p.?
|
3.0 |
|
B | ||
| 19558 | chr9 | 35059649 | AT | A |
c.1847del
|
p.Asn616MetfsTer63
|
3.0 |
|
B | ||
| 34906 | chr9 | 35074362 | G | A |
-
c.1760+9C>T
|
-
-
|
2.0 |
|
B | ||
| 10360 | chr9 | 35074444 | G | A |
-
c.1687C>T
|
-
p.Arg563Trp
|
3.0 |
|
B | ||
| 19015 | chr9 | 35074488 | C | T |
-
c.1643G>A
|
-
p.Arg548Gln
|
3.0 |
|
B | ||
| 9629 | chr9 | 35075305 | C | T |
-
c.1454G>A
|
-
p.Arg485Gln
|
3.0 |
|
B | ||
| 2147 | chr9 | 35075551 | TG | T |
-
c.1346del
|
-
p.Pro449HisfsTer69
|
- | 4.0 |
|
B | |
| 12183 | chr9 | 35076594 | A | T |
-
c.925-11T>A
|
-
-
|
- | 3.0 |
|
B | |
| 32272 | chr9 | 35076713 | C | A |
-
c.924+11G>T
|
-
-
|
- | 3.0 |
|
B | |
| 17877 | chr9 | 35076777 | G | C |
-
c.871C>G
|
-
p.Gln291Glu
|
- | 3.0 |
|
B | |
| 26648 | chr9 | 35077054 | G | A |
-
c.694C>T
|
-
p.Leu232Phe
|
- | 3.0 |
|
B | |
| 14338 | chr9 | 35077066 | C | T |
-
c.682G>A
|
-
p.Ala228Thr
|
3.0 |
|
B |