Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13507 | chr5 | 87332487 | A | C |
c.693-20A>C
|
-
|
- | 3.0 |
|
B | |
| 4596 | chr5 | 87333266 | G | T |
c.829-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 591 | chr5 | 87338072 | A | G |
c.998A>G
|
p.Glu333Gly
|
- | 3.0 |
|
B | |
| 11471 | chr5 | 87341283 | C | A |
c.1018-7C>A
|
-
|
- | 3.0 |
|
B | |
| 7458 | chr5 | 87362548 | C | T |
c.1333-3C>T
|
-
|
- | 3.0 |
|
B | |
| 33887 | chr5 | 87362595 | C | G |
c.1377C>G
|
p.Ile459Met
|
- | 3.0 |
|
B | |
| 17687 | chr5 | 87362635 | A | G |
c.1417A>G
|
p.Lys473Glu
|
- | 3.0 |
|
B | |
| 11462 | chr5 | 87363325 | AAAC | A |
c.1454-20_1454-18del
|
-
|
2.0 |
|
B | ||
| 20733 | chr5 | 87363330 | A | AT |
c.1454-7dup
|
-
|
2.0 |
|
B | ||
| 20005 | chr5 | 87363330 | AT | A |
c.1454-7del
|
-
|
1.0 |
|
B | ||
| 20216 | chr5 | 87363330 | ATT | A |
c.1454-8_1454-7del
|
-
|
3.0 |
|
B | ||
| 9856 | chr5 | 87363404 | CTTAT | C |
c.1517_1520del
|
p.Tyr506LeufsTer13
|
- | 4.0 |
|
B | |
| 7176 | chr5 | 87363428 | C | T |
c.1534C>T
|
p.Arg512Ter
|
3.5 |
|
B | ||
| 4191 | chr5 | 87363477 | A | G |
c.1583A>G
|
p.Tyr528Cys
|
2.0 |
|
B | ||
| 6655 | chr5 | 87363505 | G | A |
c.1610+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 455 | chr5 | 87369832 | G | A |
c.1630G>A
|
p.Val544Ile
|
- | 3.0 |
|
S | |
| 34465 | chr5 | 87369903 | A | T |
c.1698+3A>T
|
-
|
- | 3.0 |
|
B | |
| 13116 | chr5 | 87369920 | A | G |
c.1698+20A>G
|
-
|
2.5 |
|
B | ||
| 24010 | chr5 | 87372116 | A | G |
c.1699-2A>G
|
p.?
|
- | 3.5 |
|
B | |
| 31162 | chr5 | 87372184 | C | A |
c.1765C>A
|
p.Arg589Ser
|
- | 3.0 |
|
B |