Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5142 | chr2 | 191054550 | C | A |
c.1207-16G>T
|
-
|
- | 3.0 |
|
B | |
| 27094 | chr2 | 191058111 | G | T |
c.1113C>A
|
p.Ser371Arg
|
- | 3.0 |
|
B | |
| 26328 | chr2 | 191058228 | C | T |
c.1095-9G>A
|
-
|
- | 3.0 |
|
B | |
| 27636 | chr2 | 191061772 | G | A |
c.991C>T
|
p.Pro331Ser
|
- | 3.0 |
|
B | |
| 29689 | chr2 | 191062832 | C | G |
c.871G>C
|
p.Asp291His
|
- | 3.0 |
|
B | |
| 11300 | chr2 | 191064807 | C | G |
c.782G>C
|
p.Cys261Ser
|
- | 3.0 |
|
B | |
| 29917 | chr2 | 191064865 | G | T |
c.724C>A
|
p.Gln242Lys
|
- | 3.0 |
|
B | |
| 10807 | chr2 | 191066494 | G | A |
c.566C>T
|
p.Ala189Val
|
- | 3.0 |
|
B | |
| 19547 | chr2 | 191076328 | G | GA |
c.274-4dup
|
-
|
2.0 |
|
B | ||
| 20208 | chr2 | 191076328 | G | GAA |
c.274-5_274-4dup
|
-
|
2.5 |
|
B | ||
| 9855 | chr2 | 191076328 | GA | G |
c.274-4del
|
-
|
2.5 |
|
B | ||
| 486 | chr2 | 191131864 | G | A |
c.273+14749C>T
|
-
|
3.0 |
|
B | ||
| 32139 | chr2 | 191131879 | G | C |
c.273+14734C>G
|
-
|
- | 3.0 |
|
B | |
| 1742 | chr2 | 191131888 | C | T |
c.273+14725G>A
|
-
|
- | 3.0 |
|
B | |
| 16700 | chr2 | 191146632 | C | T |
c.254G>A
|
p.Arg85Lys
|
3.0 |
|
B | ||
| 19399 | chr2 | 191146759 | TA | T |
c.129-3del
|
-
|
2.0 |
|
B | ||
| 19863 | chr2 | 191146759 | TAA | T |
c.129-4_129-3del
|
-
|
3.0 |
|
B | ||
| 25150 | chr2 | 191148113 | G | A |
c.91C>T
|
p.Arg31Trp
|
- | 3.0 |
|
B | |
| 5157 | chr2 | 191387429 | C | T |
c.1760C>T
|
p.Thr587Ile
|
3.0 |
|
B | ||
| 5158 | chr2 | 191387430 | C | T |
c.1761C>T
|
p.Thr587=
|
- | 3.0 |
|
B |