Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33571 | chr2 | 47475180 | C | T |
c.1915C>T
|
p.His639Tyr
|
4.0 |
|
B | ||
| 21471 | chr2 | 47475220 | C | A |
c.1955C>A
|
p.Pro652His
|
3.5 |
|
B | ||
| 13621 | chr2 | 47476358 | G | A |
c.2006-9G>A
|
-
|
2.0 |
|
B | ||
| 118 | chr2 | 47476399 | C | T |
c.2038C>T
|
p.Arg680Ter
|
5.0 |
|
B | ||
| 10339 | chr2 | 47476429 | C | T |
c.2068C>T
|
p.Gln690Ter
|
- | 4.5 |
|
B | |
| 31350 | chr2 | 47478520 | G | T |
c.2458+1G>T
|
p.?
|
4.5 |
|
B | ||
| 3986 | chr2 | 47480873 | T | A |
c.2634+2T>A
|
p.?
|
- | 4.5 |
|
B | |
| 33473 | chr2 | 47482815 | G | T |
c.2671G>T
|
p.Val891Leu
|
- | 3.0 |
|
B | |
| 15537 | chr2 | 47482892 | A | G |
c.2748A>G
|
p.Ile916Met
|
- | 3.0 |
|
B | |
| 8104 | chr2 | 47482948 | G | T |
c.2804G>T
|
p.Ter935LeuextTer7
|
3.0 |
|
B | ||
| 35302 | chr2 | 47562082 | A | G |
c.391+7859T>C
|
-
|
- | 3.0 |
|
B | |
| 10962 | chr2 | 47782677 | T | G |
-
|
-
|
1.0 |
|
B | ||
| 1549 | chr2 | 47783292 | CCA | C |
c.60_61del
|
p.Asn21GlnfsTer68
|
- | 4.0 |
|
B | |
| 12425 | chr2 | 47783349 | G | A |
c.116G>A
|
p.Gly39Glu
|
1.0 |
|
B | ||
| 9790 | chr2 | 47783487 | C | T |
c.254C>T
|
p.Pro85Leu
|
3.0 |
|
B | ||
| 2993 | chr2 | 47783491 | C | A |
c.258C>A
|
p.Thr86=
|
2.0 |
|
B | ||
| 23031 | chr2 | 47783501 | G | A |
c.260+8G>A
|
-
|
- | 2.5 |
|
B | |
| 21503 | chr2 | 47791062 | G | T |
c.396G>T
|
p.Gln132His
|
- | 3.0 |
|
B | |
| 35303 | chr2 | 47795977 | G | A |
c.541G>A
|
p.Glu181Lys
|
3.0 |
|
B | ||
| 3534 | chr2 | 47796055 | G | A |
c.619G>A
|
p.Glu207Lys
|
2.5 |
|
B |