Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28812 | chr12 | 18562703 | G | A |
c.3591G>A
|
p.Lys1197=
|
- | 3.0 |
|
B | |
| 17336 | chr12 | 18562713 | G | A |
c.3601G>A
|
p.Glu1201Lys
|
- | 3.0 |
|
B | |
| 10073 | chr12 | 18562863 | A | G |
c.3751A>G
|
p.Ile1251Val
|
3.0 |
|
B | ||
| 26139 | chr12 | 18563467 | C | T |
c.3871C>T
|
p.Gln1291Ter
|
- | 3.0 |
|
B | |
| 23321 | chr12 | 18563473 | C | A |
c.3877C>A
|
p.Gln1293Lys
|
- | 3.0 |
|
B | |
| 34278 | chr12 | 18566987 | A | G |
c.3941A>G
|
p.Asp1314Gly
|
3.0 |
|
B | ||
| 35055 | chr12 | 18567018 | C | A |
c.3972C>A
|
p.Tyr1324Ter
|
- | 3.0 |
|
B | |
| 26814 | chr12 | 18594479 | C | T |
c.4012-15C>T
|
-
|
- | 3.0 |
|
B | |
| 24569 | chr12 | 18594518 | C | T |
c.4036C>T
|
p.Leu1346Phe
|
- | 3.0 |
|
B | |
| 10989 | chr12 | 18609516 | A | C |
c.4088-19A>C
|
-
|
1.0 |
|
B | ||
| 4312 | chr12 | 18609532 | C | T |
c.4088-3C>T
|
-
|
- | 3.0 |
|
B | |
| 7858 | chr12 | 18609584 | C | G |
c.4137C>G
|
p.Tyr1379Ter
|
- | 3.0 |
|
B | |
| 32732 | chr12 | 18647868 | G | A |
c.4309-8G>A
|
-
|
2.0 |
|
B | ||
| 29714 | chr12 | 18647945 | T | A |
c.4378T>A
|
p.Phe1460Ile
|
- | 3.0 |
|
B | |
| 29162 | chr12 | 18648015 | A | G |
c.4448A>G
|
p.Asn1483Ser
|
3.0 |
|
B | ||
| 8721 | chr12 | 21178607 | GATAT | G |
c.516_519del
|
p.Ile172MetfsTer11
|
- | 3.0 |
|
B | |
| 4524 | chr12 | 21200675 | A | G |
c.1135+3A>G
|
-
|
- | 3.0 |
|
B | |
| 31289 | chr12 | 21470302 | C | G |
c.1842G>C
c.*1548C>G
|
p.Lys614Asn
-
|
- | 3.0 |
|
B | |
| 11089 | chr12 | 21471546 | C | T |
c.1549G>A
-
|
p.Asp517Asn
-
|
- | 3.0 |
|
B | |
| 16795 | chr12 | 21471587 | G | A |
c.1508C>T
-
|
p.Ala503Val
-
|
- | 3.0 |
|
B |