Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12417 | chr22 | 19232457 | C | T |
c.1644+19G>A
|
-
|
2.0 |
|
B | ||
| 28531 | chr22 | 19232502 | C | T |
c.1618G>A
|
p.Glu540Lys
|
3.0 |
|
B | ||
| 25897 | chr22 | 19233407 | C | T |
c.1368+15G>A
|
-
|
- | 3.0 |
|
B | |
| 17991 | chr22 | 19233523 | C | T |
c.1267G>A
|
p.Asp423Asn
|
3.0 |
|
B | ||
| 14394 | chr22 | 19233636 | G | A |
c.1168-14C>T
|
-
|
3.0 |
|
B | ||
| 12574 | chr22 | 19234490 | A | G |
c.1167+19T>C
|
-
|
- | 3.0 |
|
B | |
| 27964 | chr22 | 19234713 | G | C |
c.970-7C>G
|
-
|
3.0 |
|
B | ||
| 29478 | chr22 | 19235676 | G | A |
c.969+20C>T
|
-
|
- | 3.0 |
|
B | |
| 33031 | chr22 | 19239385 | G | A |
c.685C>T
|
p.His229Tyr
|
3.0 |
|
B | ||
| 34526 | chr22 | 19455673 | G | A |
c.767+7C>T
|
-
|
- | 3.0 |
|
B | |
| 25680 | chr22 | 19714593 | GCA | G |
c.8_9del
|
p.Thr3ArgfsTer18
|
- | 3.0 |
|
B | |
| 19180 | chr22 | 19719618 | A | G |
c.71A>G
-
|
p.Tyr24Cys
-
|
- | 3.0 |
|
B | |
| 21774 | chr22 | 19720236 | G | A |
c.360G>A
-
|
p.Glu120=
-
|
3.0 |
|
B | ||
| 27198 | chr22 | 19720309 | C | T |
c.363-11C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 27199 | chr22 | 19720310 | C | T |
c.363-10C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 26556 | chr22 | 19720550 | C | A |
c.499C>A
-
|
p.Leu167Met
-
|
- | 3.0 |
|
B | |
| 23985 | chr22 | 19720677 | C | T |
c.615+11C>T
-
|
-
-
|
3.0 |
|
B | ||
| 20471 | chr22 | 19720749 | G | C |
c.616-19G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 28971 | chr22 | 19721746 | G | C |
c.814+10G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 18908 | chr22 | 19721920 | G | A |
c.913G>A
-
|
p.Glu305Lys
-
|
- | 3.0 |
|
B |