Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24154 | chr16 | 12048393 | C | T |
c.521C>T
|
p.Ala174Val
|
3.0 |
|
B | ||
| 18833 | chr16 | 12048452 | G | T |
c.580G>T
|
p.Asp194Tyr
|
- | 3.0 |
|
B | |
| 16532 | chr16 | 12051826 | CT | C |
c.749-6del
|
-
|
3.0 |
|
B | ||
| 30879 | chr16 | 12051867 | CG | C |
c.771del
|
p.Lys258ArgfsTer6
|
- | 3.0 |
|
B | |
| 31647 | chr16 | 12051985 | C | T |
c.887C>T
|
p.Ser296Phe
|
3.0 |
|
B | ||
| 14225 | chr16 | 12069116 | C | T |
c.1303C>T
|
p.Pro435Ser
|
- | 3.0 |
|
B | |
| 31083 | chr16 | 12080806 | G | C |
c.1402+1891G>C
|
-
|
3.0 |
|
B | ||
| 15949 | chr16 | 12129652 | G | A |
c.1489G>A
|
p.Gly497Ser
|
3.0 |
|
B | ||
| 18254 | chr16 | 12129755 | C | A |
c.1592C>A
|
p.Ala531Asp
|
3.0 |
|
B | ||
| 34690 | chr16 | 12278007 | G | A |
c.1753G>A
|
p.Ala585Thr
|
3.0 |
|
B | ||
| 19337 | chr16 | 12278031 | A | C |
c.1777A>C
|
p.Ile593Leu
|
- | 3.0 |
|
B | |
| 22179 | chr16 | 12477729 | G | A |
c.2048G>A
|
p.Arg683Gln
|
3.0 |
|
B | ||
| 16007 | chr16 | 12524792 | G | A |
c.2269G>A
|
p.Ala757Thr
|
3.0 |
|
B | ||
| 34300 | chr16 | 12568550 | C | A |
c.2363C>A
|
p.Ala788Glu
|
- | 3.0 |
|
B | |
| 28920 | chr16 | 12568609 | C | T |
c.2422C>T
|
p.Pro808Ser
|
- | 3.0 |
|
B | |
| 26727 | chr16 | 13920198 | C | T |
c.33C>T
|
p.Ala11=
|
1.0 |
|
B | ||
| 35456 | chr16 | 13920208 | C | T |
c.43C>T
|
p.Leu15=
|
2.0 |
|
B | ||
| 19691 | chr16 | 13922133 | G | T |
c.310G>T
|
p.Gly104Cys
|
- | 3.0 |
|
B | |
| 19027 | chr16 | 13935409 | A | G |
c.1477A>G
|
p.Thr493Ala
|
- | 3.0 |
|
B | |
| 12866 | chr16 | 13935424 | G | A |
c.1492G>A
|
p.Val498Ile
|
3.0 |
|
B |