Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17534 | chr19 | 38587835 | A | G |
-
c.2397-18T>C
|
-
-
|
- | 3.0 |
|
B | |
| 8336 | chr19 | 38589216 | T | G |
-
c.2397-1399A>C
|
-
-
|
3.0 |
|
B | ||
| 4940 | chr19 | 38589217 | T | C |
-
c.2397-1400A>G
|
-
-
|
3.0 |
|
B | ||
| 21435 | chr19 | 38589227 | T | C |
-
c.2397-1410A>G
|
-
-
|
3.0 |
|
B | ||
| 4297 | chr19 | 38589234 | A | C |
-
c.2397-1417T>G
|
-
-
|
3.0 |
|
B | ||
| 11461 | chr19 | 38589250 | G | C |
-
c.2397-1433C>G
|
-
-
|
3.0 |
|
B | ||
| 8337 | chr19 | 38589259 | T | C |
-
c.2397-1442A>G
|
-
-
|
3.0 |
|
B | ||
| 11432 | chr19 | 38589264 | C | T |
-
c.2397-1447G>A
|
-
-
|
- | 3.0 |
|
B | |
| 24488 | chr19 | 38589281 | G | A |
-
c.2397-1464C>T
|
-
-
|
3.0 |
|
B | ||
| 34652 | chr19 | 38589281 | G | C |
-
c.2397-1464C>G
|
-
-
|
- | 3.0 |
|
B | |
| 3113 | chr19 | 38593301 | G | A |
c.2377C>T
|
p.Arg793Cys
|
3.0 |
|
B | ||
| 7144 | chr19 | 38593343 | G | GA |
c.2341-7dup
|
-
|
- | 3.0 |
|
B | |
| 17412 | chr19 | 38595471 | A | T |
c.2340+14T>A
|
-
|
- | 3.0 |
|
B | |
| 24404 | chr19 | 38595477 | G | C |
c.2340+8C>G
|
-
|
- | 3.0 |
|
B | |
| 27055 | chr19 | 38595631 | T | G |
c.2269+9A>C
|
-
|
- | 3.0 |
|
B | |
| 11586 | chr19 | 38595691 | G | A |
c.2218C>T
|
p.Arg740Trp
|
3.0 |
|
B | ||
| 17464 | chr19 | 38595697 | G | GTGACCCC |
c.2211_2212insGGGGTCA
|
p.Pro738GlyfsTer11
|
- | 3.0 |
|
B | |
| 3107 | chr19 | 38595714 | A | C |
c.2195T>G
|
p.Val732Gly
|
- | 3.0 |
|
B | |
| 27273 | chr19 | 38595922 | G | A |
c.2179+17C>T
|
-
|
3.0 |
|
B | ||
| 33991 | chr19 | 38596362 | T | G |
c.2066A>C
|
p.His689Pro
|
3.0 |
|
B |