Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9243 | chr21 | 38391670 | C | T |
c.860G>A
|
p.Arg287His
|
3.0 |
|
B | ||
| 22415 | chr21 | 38391701 | G | A |
c.829C>T
|
p.Pro277Ser
|
- | 3.0 |
|
B | |
| 30747 | chr21 | 38392464 | G | C |
c.746-20C>G
|
-
|
- | 3.0 |
|
B | |
| 3871 | chr21 | 38402641 | C | A |
c.593-4G>T
|
-
|
3.0 |
|
B | ||
| 2556 | chr21 | 38403635 | C | T |
c.463G>A
|
p.Val155Ile
|
3.0 |
|
B | ||
| 9484 | chr21 | 38403679 | C | T |
c.419G>A
|
p.Arg140Gln
|
3.0 |
|
B | ||
| 23274 | chr21 | 38423431 | G | C |
c.367C>G
|
p.Arg123Gly
|
- | 3.0 |
|
B | |
| 12784 | chr21 | 38423484 | C | T |
c.314G>A
|
p.Gly105Asp
|
3.0 |
|
B | ||
| 31737 | chr21 | 38445390 | G | A |
c.236+14C>T
|
-
|
3.0 |
|
B | ||
| 14528 | chr21 | 38498348 | G | T |
c.18+15C>A
|
-
|
- | 3.0 |
|
B | |
| 31154 | chr21 | 38498362 | C | T |
c.18+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 17424 | chr21 | 38575642 | C | T |
c.39+20G>A
|
-
|
- | 3.0 |
|
B | |
| 27657 | chr21 | 38575647 | C | T |
c.39+15G>A
|
-
|
- | 3.0 |
|
B | |
| 17818 | chr21 | 38575685 | G | A |
c.16C>T
|
p.Pro6Ser
|
- | 3.0 |
|
B | |
| 3563 | chr21 | 39183306 | CCCT | C |
-
c.77_79del
|
-
p.Glu26del
|
3.0 |
|
B | ||
| 3497 | chr21 | 40042602 | C | T |
c.5455G>A
|
p.Glu1819Lys
|
- | 3.0 |
|
B | |
| 19816 | chr21 | 41466166 | GA | G |
c.1468-14del
|
-
|
2.5 |
|
B | ||
| 14507 | chr21 | 41468529 | G | A |
c.1181C>T
|
p.Ser394Leu
|
- | 3.0 |
|
B | |
| 15468 | chr21 | 41470672 | C | A |
c.1147G>T
|
p.Gly383Trp
|
- | 3.0 |
|
B | |
| 35178 | chr21 | 41471845 | T | C |
c.1036A>G
|
p.Ile346Val
|
- | 3.0 |
|
B |