Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23330 | chr4 | 109945270 | A | T |
c.935A>T
|
p.Glu312Val
|
- | 3.0 |
|
B | |
| 12127 | chr4 | 109961984 | C | T |
c.1311C>T
|
p.Ser437=
|
3.0 |
|
B | ||
| 11162 | chr4 | 109963316 | C | G |
c.1438+18C>G
|
-
|
- | 3.0 |
|
B | |
| 27249 | chr4 | 109964436 | G | A |
c.1474G>A
|
p.Asp492Asn
|
- | 3.0 |
|
B | |
| 31894 | chr4 | 109964502 | GT | G |
c.1543del
|
p.Tyr515MetfsTer3
|
- | 3.0 |
|
B | |
| 26521 | chr4 | 109969086 | G | T |
c.1691G>T
|
p.Trp564Leu
|
- | 3.0 |
|
B | |
| 25942 | chr4 | 109969135 | C | T |
c.1724+16C>T
|
-
|
- | 3.0 |
|
B | |
| 13624 | chr4 | 109976064 | C | T |
c.1882C>T
|
p.Leu628Phe
|
- | 3.0 |
|
B | |
| 25991 | chr4 | 109979971 | G | T |
c.2054-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 24902 | chr4 | 109987785 | C | T |
c.2533C>T
|
p.Arg845Trp
|
3.0 |
|
B | ||
| 14319 | chr4 | 109988688 | G | A |
c.2713G>A
|
p.Gly905Arg
|
- | 3.0 |
|
B | |
| 14793 | chr4 | 109988713 | A | G |
c.2734+4A>G
|
-
|
- | 3.0 |
|
B | |
| 33138 | chr4 | 109993228 | ACT | A |
c.2735-16_2735-15del
|
-
|
3.0 |
|
B | ||
| 25943 | chr4 | 109999717 | G | A |
c.3044G>A
|
p.Arg1015Gln
|
3.0 |
|
B | ||
| 16511 | chr4 | 110011195 | C | T |
c.3371-7C>T
|
-
|
- | 3.0 |
|
B | |
| 18294 | chr4 | 110011334 | C | T |
c.3503C>T
|
p.Pro1168Leu
|
- | 3.0 |
|
B | |
| 3365 | chr4 | 110553334 | G | A |
c.2521G>A
|
p.Asp841Asn
|
3.0 |
|
B | ||
| 7524 | chr4 | 113293439 | G | T |
c.2377-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 14743 | chr4 | 122451791 | C | T |
c.423G>A
|
p.Trp141Ter
|
- | 3.0 |
|
B | |
| 14451 | chr4 | 122456163 | T | C |
c.188A>G
|
p.Lys63Arg
|
- | 3.0 |
|
B |