Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1843 | chr2 | 168969471 | T | C |
c.1890A>G
|
p.Glu630=
|
- | 3.0 |
|
B | |
| 7394 | chr2 | 168970104 | T | C |
c.1750A>G
|
p.Met584Val
|
3.0 |
|
B | ||
| 1571 | chr2 | 168970146 | C | T |
c.1708G>A
|
p.Ala570Thr
|
3.5 |
|
B | ||
| 27211 | chr2 | 168971827 | G | A |
c.1638+20C>T
|
-
|
3.0 |
|
B | ||
| 7802 | chr2 | 168971846 | C | T |
c.1638+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 25583 | chr2 | 168971882 | C | A |
c.1603G>T
|
p.Ala535Ser
|
- | 3.0 |
|
B | |
| 10823 | chr2 | 168971935 | C | T |
c.1550G>A
|
p.Arg517His
|
3.0 |
|
B | ||
| 7803 | chr2 | 168972026 | G | A |
c.1459C>T
|
p.Arg487Cys
|
3.0 |
|
B | ||
| 10963 | chr2 | 168973818 | A | G |
c.1331T>C
|
p.Val444Ala
|
1.0 |
|
B | ||
| 15024 | chr2 | 168973821 | A | G |
c.1328T>C
|
p.Met443Thr
|
- | 3.0 |
|
B | |
| 2435 | chr2 | 168976602 | T | C |
c.1283A>G
|
p.His428Arg
|
3.0 |
|
B | ||
| 29488 | chr2 | 168976677 | A | C |
c.1208T>G
|
p.Ile403Ser
|
- | 3.0 |
|
B | |
| 25964 | chr2 | 168979948 | T | C |
c.1115A>G
|
p.Asn372Ser
|
- | 3.0 |
|
B | |
| 25283 | chr2 | 168986199 | G | A |
c.994C>T
|
p.Leu332Phe
|
- | 3.0 |
|
B | |
| 34143 | chr2 | 168986237 | C | G |
c.956G>C
|
p.Gly319Ala
|
- | 3.0 |
|
B | |
| 34096 | chr2 | 168986238 | C | T |
c.955G>A
|
p.Gly319Arg
|
- | 3.0 |
|
B | |
| 11751 | chr2 | 168986242 | TCTAATTCCCCAACGCTGGGCG | T |
c.930_950del
|
p.Phe310_Arg317delinsLeu
|
- | 3.0 |
|
B | |
| 27738 | chr2 | 168990801 | C | A |
c.908G>T
|
p.Arg303Met
|
- | 3.0 |
|
B | |
| 23435 | chr2 | 168993760 | AT | A |
c.733del
|
p.Ile245LeufsTer17
|
- | 3.0 |
|
B | |
| 33386 | chr2 | 168993830 | G | C |
c.664C>G
|
p.Gln222Glu
|
- | 3.0 |
|
B |