Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18907 | chr19 | 48122939 | G | A |
c.2227C>T
|
p.Leu743Phe
|
- | 3.0 |
|
B | |
| 24589 | chr19 | 48131179 | G | A |
c.1726-8C>T
|
-
|
1.5 |
|
B | ||
| 23984 | chr19 | 48133013 | C | T |
c.1694G>A
|
p.Cys565Tyr
|
3.0 |
|
B | ||
| 26622 | chr19 | 48134038 | G | T |
c.1552C>A
|
p.Pro518Thr
|
- | 3.0 |
|
B | |
| 22965 | chr19 | 48135789 | G | A |
c.1424-10C>T
|
-
|
- | 3.0 |
|
B | |
| 13783 | chr19 | 48143619 | G | A |
c.858-20C>T
|
-
|
3.0 |
|
B | ||
| 34699 | chr19 | 48143914 | C | T |
c.826G>A
|
p.Val276Met
|
3.0 |
|
B | ||
| 25207 | chr19 | 48149793 | C | T |
c.746G>A
|
p.Gly249Glu
|
1.5 |
|
B | ||
| 28442 | chr19 | 48150094 | A | T |
c.691T>A
|
p.Phe231Ile
|
3.0 |
|
B | ||
| 27655 | chr19 | 48150198 | G | A |
c.587C>T
|
p.Pro196Leu
|
3.0 |
|
B | ||
| 14166 | chr19 | 48150206 | T | C |
c.579A>G
|
p.Ala193=
|
- | 3.0 |
|
B | |
| 25860 | chr19 | 48151283 | C | A |
c.523G>T
|
p.Gly175Ter
|
- | 3.0 |
|
B | |
| 3742 | chr19 | 48194832 | C | CCACGCAG |
c.770_771insCGCAGCA
|
p.Gln257HisfsTer203
|
- | 3.0 |
|
B | |
| 3291 | chr19 | 48194841 | CTGCTGCG | C |
c.780_786del
|
p.Cys260TrpfsTer208
|
- | 3.0 |
|
B | |
| 3743 | chr19 | 48195002 | GCGT | G |
c.939_941del
|
p.Val314del
|
- | 3.0 |
|
B | |
| 3744 | chr19 | 48195015 | C | CACG |
c.951_952insACG
|
p.Cys317_Arg318insThr
|
- | 3.0 |
|
B | |
| 19798 | chr19 | 48491500 | C | CG |
c.4131dup
|
p.Glu1378ArgfsTer162
|
3.0 |
|
B | ||
| 31993 | chr19 | 48493693 | C | A |
c.4092+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 31530 | chr19 | 48494100 | G | A |
c.3686C>T
|
p.Ser1229Phe
|
- | 3.0 |
|
B | |
| 35256 | chr19 | 48497536 | G | A |
c.3533C>T
|
p.Pro1178Leu
|
- | 3.0 |
|
B |