Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7921 | chr22 | 28710052 | G | C |
c.800C>G
|
p.Ala267Gly
|
- | 3.0 |
|
B | |
| 6751 | chr22 | 28719429 | T | TTAATGCCTTAGGATAAACTGAC |
c.627_648dup
|
p.Arg217ValfsTer5
|
- | 4.0 |
|
B | |
| 25864 | chr22 | 28719486 | C | T |
c.593-1G>A
|
p.?
|
3.5 |
|
B | ||
| 19852 | chr22 | 28724937 | GA | G |
c.592+39del
|
-
|
3.0 |
|
B | ||
| 28779 | chr22 | 28725034 | T | A |
c.535A>T
|
p.Lys179Ter
|
- | 4.0 |
|
B | |
| 6752 | chr22 | 28725090 | A | G |
c.479T>C
|
p.Ile160Thr
|
3.0 |
|
B | ||
| 457 | chr22 | 28725099 | A | G |
c.470T>C
|
p.Ile157Thr
|
3.43 |
|
S | ||
| 18745 | chr22 | 28725265 | T | G |
c.422A>C
|
p.Lys141Thr
|
3.0 |
|
B | ||
| 10511 | chr22 | 28725269 | T | C |
c.418A>G
|
p.Ser140Gly
|
3.0 |
|
B | ||
| 13532 | chr22 | 28734694 | G | A |
c.28C>T
|
p.Gln10Ter
|
4.5 |
|
B | ||
| 2587 | chr22 | 28734719 | C | G |
c.3G>C
|
p.Met1?
|
4.0 |
|
B | ||
| 25085 | chr22 | 28734725 | G | A |
c.-4C>T
|
-
|
2.5 |
|
B | ||
| 2322 | chr22 | 28734730 | C | T |
c.-6-3G>A
|
-
|
- | 3.5 |
|
B | |
| 13602 | chr22 | 28734736 | G | A |
c.-6-9C>T
|
-
|
- | 3.0 |
|
B | |
| 31531 | chr22 | 28883903 | C | T |
c.137C>T
|
p.Ala46Val
|
- | 3.0 |
|
B | |
| 24321 | chr22 | 28884049 | G | A |
c.283G>A
|
p.Glu95Lys
|
- | 3.0 |
|
B | |
| 9938 | chr22 | 28987109 | G | T |
c.334G>T
|
p.Glu112Ter
|
- | 3.5 |
|
B | |
| 5477 | chr22 | 29042489 | T | A |
c.427-6T>A
|
-
|
- | 3.0 |
|
B | |
| 22586 | chr22 | 29044807 | AT | A |
c.665del
|
p.Phe222SerfsTer21
|
- | 4.0 |
|
B | |
| 1493 | chr22 | 29044825 | G | A |
c.679G>A
|
p.Val227Ile
|
3.0 |
|
B |