Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22038 | chr2 | 178702176 | G | A |
c.30503C>T
|
p.Thr10168Met
|
3.0 |
|
B | ||
| 23444 | chr2 | 178702203 | G | T |
c.30476C>A
|
p.Ala10159Glu
|
- | 3.0 |
|
B | |
| 21603 | chr2 | 178702207 | C | T |
c.30472G>A
|
p.Glu10158Lys
|
- | 3.0 |
|
B | |
| 21650 | chr2 | 178702487 | T | C |
c.30400A>G
|
p.Met10134Val
|
- | 3.0 |
|
B | |
| 13746 | chr2 | 178704150 | C | T |
c.30220G>A
|
p.Glu10074Lys
|
3.0 |
|
B | ||
| 33846 | chr2 | 178704162 | C | T |
c.30208G>A
|
p.Glu10070Lys
|
- | 3.0 |
|
B | |
| 27246 | chr2 | 178704183 | C | T |
c.30187G>A
|
p.Glu10063Lys
|
- | 3.0 |
|
B | |
| 17851 | chr2 | 178704413 | C | T |
c.29963-6G>A
|
-
|
- | 3.0 |
|
B | |
| 23267 | chr2 | 178704534 | C | T |
c.29938G>A
|
p.Ala9980Thr
|
2.0 |
|
B | ||
| 24981 | chr2 | 178704690 | G | T |
c.29782C>A
|
p.Pro9928Thr
|
- | 3.0 |
|
B | |
| 17232 | chr2 | 178704908 | G | A |
c.29663C>T
|
p.Ser9888Leu
|
- | 3.0 |
|
B | |
| 32852 | chr2 | 178704918 | C | T |
c.29653G>A
|
p.Glu9885Lys
|
- | 3.0 |
|
B | |
| 31253 | chr2 | 178704934 | G | T |
c.29637C>A
|
p.Asp9879Glu
|
- | 3.0 |
|
B | |
| 30217 | chr2 | 178704957 | C | T |
c.29614G>A
|
p.Glu9872Lys
|
3.0 |
|
B | ||
| 22264 | chr2 | 178704965 | T | A |
c.29606A>T
|
p.Glu9869Val
|
- | 3.0 |
|
B | |
| 23847 | chr2 | 178705194 | C | G |
c.29584G>C
|
p.Glu9862Gln
|
- | 3.0 |
|
B | |
| 32739 | chr2 | 178705320 | C | T |
c.29458G>A
|
p.Glu9820Lys
|
- | 3.0 |
|
B | |
| 24002 | chr2 | 178705358 | C | T |
c.29421-1G>A
|
p.?
|
3.0 |
|
B | ||
| 19395 | chr2 | 178706453 | CT | C |
c.29420del
|
p.Lys9807ArgfsTer5
|
- | 3.0 |
|
B | |
| 12640 | chr2 | 178706723 | G | T |
c.29151C>A
|
p.Phe9717Leu
|
- | 3.0 |
|
B |