Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14440 | chr2 | 178677721 | T | G |
c.34191A>C
|
p.Glu11397Asp
|
- | 3.0 |
|
B | |
| 34310 | chr2 | 178677772 | TTCAGGTAGAACTTCCTCTTCC | T |
c.34119_34139del
|
p.Val11384_Glu11390del
|
2.5 |
|
B | ||
| 27212 | chr2 | 178677774 | C | T |
c.34138G>A
|
p.Glu11380Lys
|
- | 3.0 |
|
B | |
| 12594 | chr2 | 178677792 | C | T |
c.34120G>A
|
p.Glu11374Lys
|
3.0 |
|
B | ||
| 25078 | chr2 | 178677810 | C | T |
c.34102G>A
|
p.Glu11368Lys
|
- | 3.0 |
|
B | |
| 28230 | chr2 | 178678459 | CCTT | C |
c.33862_33864del
|
p.Lys11288del
|
3.0 |
|
B | ||
| 28474 | chr2 | 178678505 | G | A |
c.33827-8C>T
|
-
|
2.0 |
|
B | ||
| 26063 | chr2 | 178679322 | G | A |
c.33742+17C>T
|
-
|
- | 3.0 |
|
B | |
| 23442 | chr2 | 178679372 | T | C |
c.33709A>G
|
p.Ile11237Val
|
- | 3.0 |
|
B | |
| 28412 | chr2 | 178679958 | C | CTCTTCT |
c.33510_33515dup
|
p.Glu11171_Glu11172dup
|
- | 3.0 |
|
B | |
| 12875 | chr2 | 178680011 | C | T |
c.33463G>A
|
p.Glu11155Lys
|
- | 3.0 |
|
B | |
| 30270 | chr2 | 178681071 | C | T |
c.33340+8G>A
|
-
|
- | 3.0 |
|
B | |
| 12668 | chr2 | 178681142 | C | T |
c.33277G>A
|
p.Glu11093Lys
|
3.0 |
|
B | ||
| 28658 | chr2 | 178681150 | A | T |
c.33269T>A
|
p.Val11090Asp
|
- | 3.0 |
|
B | |
| 8308 | chr2 | 178681176 | A | G |
c.33248-5T>C
|
-
|
- | 3.0 |
|
B | |
| 13373 | chr2 | 178681428 | T | A |
c.33195A>T
|
p.Glu11065Asp
|
- | 3.0 |
|
B | |
| 22263 | chr2 | 178681653 | C | T |
c.33172+8G>A
|
-
|
- | 3.0 |
|
B | |
| 26848 | chr2 | 178682709 | C | G |
c.33082G>C
|
p.Glu11028Gln
|
- | 3.0 |
|
B | |
| 18283 | chr2 | 178682754 | C | T |
c.33037G>A
|
p.Glu11013Lys
|
- | 3.0 |
|
B | |
| 17230 | chr2 | 178683244 | C | T |
c.32854G>A
|
p.Glu10952Lys
|
3.0 |
|
B |