Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31281 | chr9 | 132903820 | G | C |
c.2042-3C>G
|
-
|
- | 3.0 |
|
B | |
| 12515 | chr9 | 132905687 | CTTTCT | C |
c.1886_1890del
|
p.Lys629SerfsTer57
|
- | 4.0 |
|
B | |
| 16125 | chr9 | 132905956 | T | A |
c.1622A>T
|
p.Asp541Val
|
- | 3.0 |
|
B | |
| 25419 | chr9 | 132905993 | C | T |
c.1585G>A
|
p.Ala529Thr
|
2.0 |
|
B | ||
| 365 | chr9 | 132906053 | G | A |
c.1525C>T
|
p.Arg509Ter
|
4.67 |
|
A | ||
| 366 | chr9 | 132906080 | G | A |
c.1498C>T
|
p.Arg500Ter
|
5.0 |
|
B | ||
| 16769 | chr9 | 132906778 | C | T |
c.1391G>A
|
p.Gly464Asp
|
3.0 |
|
B | ||
| 17701 | chr9 | 132906779 | C | T |
c.1390G>A
|
p.Gly464Ser
|
- | 3.0 |
|
B | |
| 10005 | chr9 | 132910605 | G | C |
c.1229C>G
|
p.Ser410Ter
|
- | 4.0 |
|
B | |
| 11445 | chr9 | 132910987 | C | A |
c.1141+15G>T
|
-
|
- | 3.0 |
|
B | |
| 24663 | chr9 | 132911102 | C | T |
c.1041G>A
|
p.Trp347Ter
|
4.5 |
|
B | ||
| 8539 | chr9 | 132911494 | G | T |
c.988C>A
|
p.Leu330Met
|
3.0 |
|
B | ||
| 16770 | chr9 | 132911503 | G | A |
c.979C>T
|
p.Pro327Ser
|
- | 3.0 |
|
B | |
| 5100 | chr9 | 132911517 | A | G |
c.965T>C
|
p.Met322Thr
|
1.0 |
|
B | ||
| 15035 | chr9 | 132911554 | T | A |
c.928A>T
|
p.Thr310Ser
|
- | 3.0 |
|
B | |
| 23173 | chr9 | 132911557 | AAG | A |
c.923_924del
|
p.Thr308IlefsTer32
|
- | 4.0 |
|
B | |
| 12896 | chr9 | 132911581 | A | T |
c.914-13T>A
|
-
|
- | 3.0 |
|
B | |
| 1801 | chr9 | 132912357 | G | A |
c.838C>T
|
p.Gln280Ter
|
4.0 |
|
B | ||
| 10630 | chr9 | 132912452 | T | G |
c.743A>C
|
p.Lys248Thr
|
- | 3.0 |
|
B | |
| 28192 | chr9 | 132921362 | C | T |
c.737+1G>A
|
p.?
|
4.5 |
|
B |