Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12434 | chr12 | 120997624 | G | A |
c.1460G>A
-
|
p.Ser487Asn
-
|
1.0 |
|
B | ||
| 12435 | chr12 | 120997672 | G | A |
c.1501+7G>A
-
|
-
-
|
1.5 |
|
B | ||
| 18724 | chr12 | 120999369 | A | G |
c.1603A>G
-
|
p.Ser535Gly
-
|
- | 3.0 |
|
B | |
| 25164 | chr12 | 120999387 | C | T |
c.1621C>T
-
|
p.Gln541Ter
-
|
- | 4.0 |
|
B | |
| 21878 | chr12 | 120999566 | C | A |
c.1707C>A
-
|
p.Ser569Arg
-
|
- | 3.0 |
|
B | |
| 33109 | chr12 | 120999598 | C | T |
c.1739C>T
-
|
p.Pro580Leu
-
|
3.0 |
|
B | ||
| 4293 | chr12 | 121532940 | G | A |
c.797C>T
|
p.Pro266Leu
|
- | 3.0 |
|
B | |
| 27731 | chr12 | 121804751 | A | AC |
c.22dup
|
p.His8ProfsTer30
|
4.0 |
|
B | ||
| 27730 | chr12 | 121827588 | C | G |
c.5407C>G
|
p.Arg1803Gly
|
- | 3.0 |
|
B | |
| 16545 | chr12 | 122274172 | T | TA |
c.3967-11dup
|
-
|
2.0 |
|
B | ||
| 12916 | chr12 | 122274172 | TA | T |
c.3967-11del
|
-
|
2.5 |
|
B | ||
| 29218 | chr12 | 122278914 | G | A |
c.3794C>T
|
p.Ser1265Phe
|
- | 3.0 |
|
B | |
| 19214 | chr12 | 122288497 | C | T |
c.3639G>A
|
p.Met1213Ile
|
3.0 |
|
B | ||
| 34104 | chr12 | 122316741 | AAACTT | A |
c.3473+3_3473+7del
|
-
|
- | 3.0 |
|
B | |
| 34623 | chr12 | 122316875 | A | C |
c.3367-20T>G
|
-
|
- | 3.0 |
|
B | |
| 22103 | chr12 | 122328244 | A | T |
c.3033+17T>A
|
-
|
- | 3.0 |
|
B | |
| 20385 | chr12 | 122328306 | CT | C |
c.2987del
|
p.Lys996SerfsTer30
|
- | 3.0 |
|
B | |
| 25382 | chr12 | 122336634 | A | T |
c.2566T>A
|
p.Leu856Met
|
- | 3.0 |
|
B | |
| 31487 | chr12 | 122340856 | C | A |
c.2348G>T
|
p.Ser783Ile
|
3.0 |
|
B | ||
| 22454 | chr12 | 122340919 | A | C |
c.2285T>G
|
p.Phe762Cys
|
- | 3.0 |
|
B |