Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29549 | chr2 | 178706724 | A | G |
c.29150T>C
|
p.Phe9717Ser
|
- | 3.0 |
|
B | |
| 13419 | chr2 | 178706752 | G | A |
c.29135-13C>T
|
-
|
3.0 |
|
B | ||
| 24681 | chr2 | 178706933 | G | T |
c.29063C>A
|
p.Ala9688Glu
|
- | 3.0 |
|
B | |
| 12471 | chr2 | 178706954 | T | C |
c.29042A>G
|
p.Asp9681Gly
|
- | 3.0 |
|
B | |
| 12711 | chr2 | 178707597 | G | A |
c.28970C>T
|
p.Ser9657Leu
|
2.0 |
|
B | ||
| 24202 | chr2 | 178707618 | C | G |
c.28949G>C
|
p.Arg9650Thr
|
- | 3.0 |
|
B | |
| 31886 | chr2 | 178707724 | C | A |
c.28843G>T
|
p.Gly9615Ter
|
- | 3.0 |
|
B | |
| 18284 | chr2 | 178707724 | C | T |
c.28843G>A
|
p.Gly9615Arg
|
3.0 |
|
B | ||
| 22265 | chr2 | 178707757 | C | T |
c.28810G>A
|
p.Gly9604Arg
|
- | 3.0 |
|
B | |
| 28182 | chr2 | 178709575 | C | T |
c.28744G>A
|
p.Val9582Ile
|
3.0 |
|
B | ||
| 12669 | chr2 | 178709698 | C | T |
c.28621G>A
|
p.Glu9541Lys
|
3.0 |
|
B | ||
| 24442 | chr2 | 178710710 | C | A |
c.28387G>T
|
p.Asp9463Tyr
|
3.0 |
|
B | ||
| 17364 | chr2 | 178710835 | G | A |
c.28262C>T
|
p.Thr9421Met
|
2.5 |
|
B | ||
| 15861 | chr2 | 178710935 | C | A |
c.28175-13G>T
|
-
|
3.0 |
|
B | ||
| 31810 | chr2 | 178710939 | A | G |
c.28175-17T>C
|
-
|
- | 3.0 |
|
B | |
| 21180 | chr2 | 178711334 | G | T |
c.27902C>A
|
p.Pro9301Gln
|
- | 3.0 |
|
B | |
| 24684 | chr2 | 178712084 | G | A |
c.27746C>T
|
p.Thr9249Met
|
3.0 |
|
B | ||
| 8298 | chr2 | 178712183 | AC | A |
c.27646del
|
p.Val9216CysfsTer30
|
- | 3.0 |
|
B | |
| 21096 | chr2 | 178712321 | T | G |
c.27601A>C
|
p.Ile9201Leu
|
- | 3.0 |
|
B | |
| 17762 | chr2 | 178712414 | C | A |
c.27508G>T
|
p.Glu9170Ter
|
- | 3.0 |
|
B |