Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3653 | chr7 | 20785366 | C | T |
c.451G>A
|
p.Val151Ile
|
3.0 |
|
B | ||
| 3654 | chr7 | 20785424 | TGCG | T |
c.390_392del
|
p.Ala134del
|
2.5 |
|
B | ||
| 18579 | chr7 | 22727257 | C | T |
c.-6C>T
|
-
|
- | 3.0 |
|
B | |
| 27552 | chr7 | 22727498 | C | A |
c.74C>A
|
p.Ala25Asp
|
- | 3.0 |
|
B | |
| 27553 | chr7 | 22727499 | C | A |
c.75C>A
|
p.Ala25=
|
- | 3.0 |
|
B | |
| 23390 | chr7 | 22727619 | A | C |
c.195A>C
|
p.Ser65=
|
2.0 |
|
B | ||
| 27761 | chr7 | 22727649 | C | T |
c.210+15C>T
|
-
|
3.0 |
|
B | ||
| 25945 | chr7 | 22729494 | C | T |
c.325-20C>T
|
-
|
- | 3.0 |
|
B | |
| 14407 | chr7 | 22729686 | T | G |
c.471+26T>G
|
-
|
- | 3.0 |
|
B | |
| 7289 | chr7 | 22731489 | G | T |
c.555G>T
|
p.Trp185Cys
|
3.0 |
|
B | ||
| 35111 | chr7 | 26192556 | C | T |
c.986G>A
|
p.Ser329Asn
|
- | 3.0 |
|
B | |
| 35516 | chr7 | 26192571 | T | C |
c.971A>G
|
p.Tyr324Cys
|
3.0 |
|
B | ||
| 30124 | chr7 | 26193295 | C | T |
c.920G>A
|
p.Gly307Glu
|
- | 3.0 |
|
B | |
| 18236 | chr7 | 26193303 | C | T |
c.912G>A
|
p.Met304Ile
|
3.0 |
|
B | ||
| 34900 | chr7 | 26193367 | T | C |
c.848A>G
|
p.Tyr283Cys
|
3.0 |
|
B | ||
| 30125 | chr7 | 26193652 | C | T |
c.764G>A
|
p.Gly255Glu
|
- | 3.0 |
|
B | |
| 33085 | chr7 | 26195845 | A | C |
c.721+2T>G
|
p.?
|
3.0 |
|
B | ||
| 32128 | chr7 | 26196671 | A | C |
c.476-13T>G
|
-
|
- | 3.0 |
|
B | |
| 13188 | chr7 | 26197635 | A | C |
c.104T>G
-
|
p.Leu35Arg
-
|
- | 3.0 |
|
B | |
| 12785 | chr7 | 26197874 | GA | G |
c.7-143del
-
|
-
-
|
2.0 |
|
B |