Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4760 | chr16 | 2431133 | T | A |
c.20T>A
|
p.Val7Asp
|
3.0 |
|
B | ||
| 16614 | chr16 | 2538722 | C | G |
c.24+586C>G
|
-
|
- | 3.0 |
|
B | |
| 10058 | chr16 | 2538773 | TAGGAGGGATTTTAGGG | T |
c.24+638_24+653del
|
-
|
- | 3.0 |
|
B | |
| 8760 | chr16 | 2557914 | CT | C |
c.237del
|
p.Glu80ArgfsTer40
|
- | 3.0 |
|
B | |
| 1084 | chr16 | 2557916 | G | A |
c.238G>A
|
p.Glu80Lys
|
- | 3.0 |
|
B | |
| 31824 | chr16 | 2577419 | C | T |
c.710-6C>T
|
-
|
- | 3.0 |
|
B | |
| 30876 | chr16 | 2577520 | C | T |
c.785+20C>T
|
-
|
- | 3.0 |
|
B | |
| 15128 | chr16 | 2586708 | G | A |
c.1158G>A
|
p.Met386Ile
|
- | 3.0 |
|
B | |
| 1653 | chr16 | 2586770 | GGTCAGGCA | G |
c.1222_1229del
|
p.Ser408GlnfsTer15
|
- | 3.0 |
|
B | |
| 6916 | chr16 | 2597132 | G | A |
c.1411G>A
|
p.Ala471Thr
|
- | 3.0 |
|
B | |
| 31472 | chr16 | 2821416 | G | T |
c.756G>T
|
p.Gln252His
|
3.0 |
|
B | ||
| 3704 | chr16 | 3015477 | C | T |
c.545G>A
-
-
|
p.Cys182Tyr
-
-
|
3.0 |
|
B | ||
| 20104 | chr16 | 3015484 | AC | A |
c.537del
-
-
|
p.Leu180CysfsTer80
-
-
|
- | 3.0 |
|
B | |
| 25269 | chr16 | 3015508 | C | G |
c.514G>C
-
-
|
p.Gly172Arg
-
-
|
- | 3.0 |
|
B | |
| 13886 | chr16 | 3015562 | C | T |
c.460G>A
-
-
|
p.Glu154Lys
-
-
|
3.0 |
|
B | ||
| 20105 | chr16 | 3015570 | AG | A |
c.451del
-
-
|
p.Leu151TrpfsTer109
-
-
|
- | 3.0 |
|
B | |
| 31632 | chr16 | 3015606 | G | A |
c.416C>T
-
-
|
p.Thr139Met
-
-
|
3.0 |
|
B | ||
| 13803 | chr16 | 3015657 | C | G |
c.365G>C
-
-
|
p.Gly122Ala
-
-
|
- | 3.0 |
|
B | |
| 27023 | chr16 | 3016010 | G | A |
c.12C>T
-
-
|
p.Ala4=
-
-
|
3.0 |
|
B | ||
| 4855 | chr16 | 3440878 | G | C |
c.89C>G
-
|
p.Thr30Ser
-
|
- | 3.0 |
|
B |