Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2374 | chr22 | 29044891 | G | A |
c.744+1G>A
|
p.?
|
4.0 |
|
B | ||
| 17428 | chr22 | 29048379 | C | T |
c.913-10C>T
|
-
|
- | 3.0 |
|
B | |
| 24825 | chr22 | 29049430 | C | T |
c.1249C>T
|
p.Arg417Cys
|
3.0 |
|
B | ||
| 8704 | chr22 | 29049496 | GC | G |
c.1317del
|
p.Tyr440ThrfsTer12
|
- | 4.0 |
|
B | |
| 5858 | chr22 | 29049526 | C | T |
c.1345C>T
|
p.Pro449Ser
|
3.0 |
|
B | ||
| 6099 | chr22 | 29049667 | G | T |
c.1486G>T
|
p.Ala496Ser
|
- | 3.0 |
|
B | |
| 32471 | chr22 | 29049679 | C | T |
c.1498C>T
|
p.Pro500Ser
|
- | 3.0 |
|
B | |
| 5543 | chr22 | 29049757 | A | C |
c.1576A>C
|
p.Thr526Pro
|
- | 3.0 |
|
B | |
| 5315 | chr22 | 29050270 | C | T |
c.2089C>T
|
p.Leu697Phe
|
3.0 |
|
B | ||
| 7576 | chr22 | 29050411 | G | T |
c.2230G>T
|
p.Gly744Cys
|
3.0 |
|
B | ||
| 3837 | chr22 | 29050546 | C | T |
c.2365C>T
|
p.Arg789Cys
|
- | 3.0 |
|
B | |
| 8744 | chr22 | 29050681 | G | C |
c.2500G>C
|
p.Glu834Gln
|
- | 3.0 |
|
B | |
| 16993 | chr22 | 29050756 | C | T |
c.2575C>T
|
p.Arg859Ter
|
4.0 |
|
B | ||
| 5316 | chr22 | 29053575 | C | T |
c.2768-4C>T
|
-
|
- | 3.0 |
|
B | |
| 19853 | chr22 | 29273724 | GT | G |
c.103-8del
|
-
|
3.0 |
|
B | ||
| 30888 | chr22 | 29282418 | A | T |
c.442A>T
|
p.Thr148Ser
|
- | 3.0 |
|
B | |
| 28596 | chr22 | 29282550 | C | T |
c.574C>T
|
p.Pro192Ser
|
- | 3.0 |
|
B | |
| 22213 | chr22 | 29286903 | T | C |
c.582-20T>C
|
-
|
3.0 |
|
B | ||
| 8620 | chr22 | 29286943 | C | CT |
c.603dup
|
p.Ser202Ter
|
- | 3.0 |
|
B | |
| 10716 | chr22 | 29287070 | A | T |
c.729A>T
|
p.Gln243His
|
- | 3.0 |
|
B |