Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34330 | chr2 | 178773364 | T | G |
c.7600A>C
|
p.Lys2534Gln
|
- | 3.0 |
|
B | |
| 33250 | chr2 | 178773454 | A | G |
c.7594+8T>C
|
-
|
- | 3.0 |
|
B | |
| 25755 | chr2 | 178773456 | C | T |
c.7594+6G>A
|
-
|
3.0 |
|
B | ||
| 12262 | chr2 | 178773971 | G | T |
c.7197C>A
|
p.Asp2399Glu
|
- | 3.0 |
|
B | |
| 14317 | chr2 | 178774009 | C | T |
c.7159G>A
|
p.Val2387Ile
|
3.0 |
|
B | ||
| 22841 | chr2 | 178774069 | C | T |
c.7099G>A
|
p.Val2367Ile
|
- | 3.0 |
|
B | |
| 23692 | chr2 | 178774123 | G | A |
c.7058-13C>T
|
-
|
- | 3.0 |
|
B | |
| 30584 | chr2 | 178774195 | G | A |
c.7057+12C>T
|
-
|
- | 3.0 |
|
B | |
| 29239 | chr2 | 178774315 | G | A |
c.6949C>T
|
p.Arg2317Cys
|
3.0 |
|
B | ||
| 25397 | chr2 | 178774998 | G | A |
c.6713C>T
|
p.Thr2238Met
|
2.0 |
|
B | ||
| 24901 | chr2 | 178775023 | A | T |
c.6688T>A
|
p.Phe2230Ile
|
- | 3.0 |
|
B | |
| 25092 | chr2 | 178775065 | C | A |
c.6646G>T
|
p.Glu2216Ter
|
- | 3.0 |
|
B | |
| 20947 | chr2 | 178775338 | G | A |
c.6508+18C>T
|
-
|
- | 3.0 |
|
B | |
| 17238 | chr2 | 178775802 | C | T |
c.6062G>A
|
p.Arg2021Gln
|
3.0 |
|
B | ||
| 14276 | chr2 | 178775950 | C | T |
c.5914G>A
|
p.Glu1972Lys
|
- | 3.0 |
|
B | |
| 27611 | chr2 | 178776026 | C | A |
c.5838G>T
|
p.Arg1946Ser
|
- | 3.0 |
|
B | |
| 25756 | chr2 | 178776262 | G | A |
c.5602C>T
|
p.Pro1868Ser
|
- | 3.0 |
|
B | |
| 32956 | chr2 | 178776409 | A | T |
c.5455T>A
|
p.Leu1819Ile
|
- | 3.0 |
|
B | |
| 18222 | chr2 | 178776436 | T | A |
c.5428A>T
|
p.Arg1810Trp
|
- | 3.0 |
|
B | |
| 25120 | chr2 | 178776605 | C | T |
c.5259G>A
|
p.Met1753Ile
|
- | 3.0 |
|
B |