Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23689 | chr2 | 27232701 | G | T |
c.2892+7G>T
|
-
|
- | 3.0 |
|
B | |
| 16247 | chr2 | 27233307 | C | T |
c.2992-5C>T
|
-
|
2.5 |
|
B | ||
| 15896 | chr2 | 27233308 | G | A |
c.2992-4G>A
|
-
|
2.0 |
|
B | ||
| 16688 | chr2 | 27233348 | G | A |
c.3028G>A
|
p.Gly1010Ser
|
- | 3.0 |
|
B | |
| 19167 | chr2 | 27233397 | C | T |
c.3077C>T
|
p.Ala1026Val
|
3.0 |
|
B | ||
| 9086 | chr2 | 27233648 | C | T |
c.3239C>T
|
p.Thr1080Ile
|
3.0 |
|
B | ||
| 31684 | chr2 | 27233705 | A | G |
c.3296A>G
|
p.Asn1099Ser
|
- | 3.0 |
|
B | |
| 33880 | chr2 | 27233822 | G | A |
c.3399+14G>A
|
-
|
- | 3.0 |
|
B | |
| 6815 | chr2 | 27234209 | C | CT |
c.3602dup
|
p.Gln1202AlafsTer7
|
- | 3.0 |
|
B | |
| 13031 | chr2 | 27234686 | G | A |
c.3786+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 11323 | chr2 | 27235228 | C | T |
c.3787-17C>T
|
-
|
- | 2.5 |
|
B | |
| 2643 | chr2 | 27235246 | T | C |
c.3788T>C
|
p.Val1263Ala
|
- | 3.0 |
|
B | |
| 10514 | chr2 | 27236342 | G | A |
c.4133G>A
|
p.Arg1378Gln
|
3.0 |
|
B | ||
| 34997 | chr2 | 27236477 | C | A |
c.4268C>A
|
p.Ser1423Tyr
|
- | 3.0 |
|
B | |
| 17206 | chr2 | 27236529 | T | C |
c.4314+6T>C
|
-
|
- | 3.0 |
|
B | |
| 23605 | chr2 | 27237701 | C | T |
c.4564-17C>T
|
-
|
- | 3.0 |
|
B | |
| 14084 | chr2 | 27237834 | T | G |
c.4680T>G
|
p.Asn1560Lys
|
- | 3.0 |
|
B | |
| 23748 | chr2 | 27238095 | C | T |
c.4768C>T
|
p.His1590Tyr
|
- | 3.0 |
|
B | |
| 34554 | chr2 | 27238177 | G | T |
c.4850G>T
|
p.Arg1617Leu
|
- | 3.0 |
|
B | |
| 34555 | chr2 | 27239207 | CCCCG | C |
c.5230_5233del
|
p.Pro1744ArgfsTer35
|
- | 3.0 |
|
B |