Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34425 | chr2 | 178666918 | A | AT |
c.35798-18dup
|
-
|
2.0 |
|
B | ||
| 25362 | chr2 | 178667278 | G | A |
c.35755C>T
|
p.Pro11919Ser
|
- | 3.0 |
|
B | |
| 30784 | chr2 | 178670208 | A | T |
c.35386+10T>A
|
-
|
- | 3.0 |
|
B | |
| 30081 | chr2 | 178670218 | C | T |
c.35386G>A
|
p.Ala11796Thr
|
3.0 |
|
B | ||
| 31203 | chr2 | 178671073 | T | G |
c.35308+17A>C
|
-
|
- | 3.0 |
|
B | |
| 34567 | chr2 | 178671141 | G | A |
c.35257C>T
|
p.Pro11753Ser
|
- | 3.0 |
|
B | |
| 30469 | chr2 | 178672049 | C | T |
c.35149G>A
|
p.Glu11717Lys
|
- | 3.0 |
|
B | |
| 12804 | chr2 | 178672109 | G | A |
c.35089C>T
|
p.His11697Tyr
|
- | 3.0 |
|
B | |
| 25601 | chr2 | 178672228 | C | T |
c.34970G>A
|
p.Arg11657His
|
1.5 |
|
B | ||
| 32621 | chr2 | 178672387 | C | T |
c.34930+20G>A
|
-
|
3.0 |
|
B | ||
| 18069 | chr2 | 178672406 | C | T |
c.34930+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 14880 | chr2 | 178672407 | C | T |
c.34930G>A
|
p.Gly11644Arg
|
- | 3.0 |
|
B | |
| 29607 | chr2 | 178673626 | G | A |
c.34786+7C>T
|
-
|
- | 3.0 |
|
B | |
| 35184 | chr2 | 178674338 | C | A |
c.34684G>T
|
p.Val11562Phe
|
- | 3.0 |
|
B | |
| 24897 | chr2 | 178675024 | T | G |
c.34612+15A>C
|
-
|
- | 3.0 |
|
B | |
| 11470 | chr2 | 178675080 | C | T |
c.34571G>A
|
p.Arg11524Gln
|
2.5 |
|
B | ||
| 31252 | chr2 | 178675108 | C | T |
c.34543G>A
|
p.Glu11515Lys
|
3.0 |
|
B | ||
| 26936 | chr2 | 178675692 | CTTTCT | C |
c.34511_34515del
|
p.Lys11504SerfsTer10
|
- | 3.0 |
|
B | |
| 27376 | chr2 | 178675908 | G | A |
c.34453+13C>T
|
-
|
2.0 |
|
B | ||
| 27859 | chr2 | 178677711 | C | T |
c.34201G>A
|
p.Glu11401Lys
|
2.5 |
|
B |