Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21762 | chr11 | 47216407 | C | A |
c.199C>A
|
p.Arg67Ser
|
- | 3.0 |
|
B | |
| 7274 | chr11 | 47234649 | C | A |
c.679C>A
-
|
p.Leu227Met
-
|
- | 3.0 |
|
B | |
| 29795 | chr11 | 47234746 | C | G |
c.703-11C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 5534 | chr11 | 47234791 | C | T |
c.737C>T
-
|
p.Thr246Met
-
|
3.0 |
|
B | ||
| 34531 | chr11 | 47235341 | T | A |
c.952T>A
-
|
p.Ser318Thr
-
|
- | 3.0 |
|
B | |
| 29373 | chr11 | 47332086 | C | T |
-
c.3800G>A
|
-
p.Arg1267His
|
3.0 |
|
B | ||
| 26101 | chr11 | 47332209 | C | CG |
-
c.3676dup
|
-
p.Arg1226ProfsTer16
|
- | 3.0 |
|
B | |
| 17328 | chr11 | 47332552 | C | T |
-
c.3627+14G>A
|
-
-
|
2.0 |
|
B | ||
| 13173 | chr11 | 47333189 | C | T |
-
c.3330+5G>A
|
-
-
|
3.0 |
|
B | ||
| 32727 | chr11 | 47333552 | C | T |
-
c.3190+5G>A
|
-
-
|
3.0 |
|
B | ||
| 25349 | chr11 | 47333718 | T | C |
-
c.3029A>G
|
-
p.Glu1010Gly
|
- | 3.0 |
|
B | |
| 22696 | chr11 | 47334028 | G | A |
-
c.2906-18C>T
|
-
-
|
- | 3.0 |
|
B | |
| 18403 | chr11 | 47335069 | C | T |
c.2878G>A
|
p.Glu960Lys
|
- | 3.0 |
|
B | |
| 18709 | chr11 | 47335216 | G | T |
c.2738-7C>A
|
-
|
3.0 |
|
B | ||
| 33472 | chr11 | 47335226 | G | T |
c.2738-17C>A
|
-
|
- | 3.0 |
|
B | |
| 13923 | chr11 | 47337397 | G | A |
c.2596C>T
|
p.Pro866Ser
|
- | 3.0 |
|
B | |
| 34363 | chr11 | 47337435 | C | T |
c.2558G>A
|
p.Gly853Asp
|
- | 3.0 |
|
B | |
| 31159 | chr11 | 47337804 | G | A |
c.2309-10C>T
|
-
|
3.0 |
|
B | ||
| 30698 | chr11 | 47338651 | C | T |
c.2177G>A
|
p.Arg726His
|
2.5 |
|
B | ||
| 23899 | chr11 | 47341135 | C | A |
c.1897+3G>T
|
-
|
3.0 |
|
B |