Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31321 | chr11 | 49174876 | C | T |
c.1105+16G>A
|
-
|
3.0 |
|
B | ||
| 31322 | chr11 | 49174901 | C | A |
c.1096G>T
|
p.Val366Leu
|
3.0 |
|
B | ||
| 33287 | chr11 | 49174939 | G | C |
c.1058C>G
|
p.Thr353Arg
|
- | 3.0 |
|
B | |
| 16400 | chr11 | 49183156 | G | A |
c.913C>T
|
p.Leu305Phe
|
- | 3.0 |
|
B | |
| 15442 | chr11 | 49183179 | A | G |
c.890T>C
|
p.Ile297Thr
|
- | 3.0 |
|
B | |
| 33874 | chr11 | 49183227 | C | T |
c.842G>A
|
p.Arg281His
|
3.0 |
|
B | ||
| 22556 | chr11 | 49183245 | G | GA |
c.827-4dup
|
-
|
3.0 |
|
B | ||
| 18899 | chr11 | 49183245 | GA | G |
c.827-4del
|
-
|
3.0 |
|
B | ||
| 30991 | chr11 | 49185686 | G | T |
c.809C>A
|
p.Pro270Gln
|
- | 3.0 |
|
B | |
| 32038 | chr11 | 49185701 | C | A |
c.794G>T
|
p.Gly265Val
|
- | 3.0 |
|
B | |
| 15746 | chr11 | 49185741 | C | G |
c.754G>C
|
p.Gly252Arg
|
- | 3.0 |
|
B | |
| 35114 | chr11 | 49185768 | G | C |
c.727C>G
|
p.Pro243Ala
|
- | 3.0 |
|
B | |
| 19703 | chr11 | 49186631 | A | AT |
c.639+12dup
|
-
|
- | 3.0 |
|
B | |
| 32443 | chr11 | 49186646 | T | C |
c.637A>G
|
p.Lys213Glu
|
- | 3.0 |
|
B | |
| 33951 | chr11 | 49186688 | T | G |
c.595A>C
|
p.Lys199Gln
|
- | 3.0 |
|
B | |
| 18457 | chr11 | 49192783 | G | A |
c.513+10C>T
|
-
|
- | 3.0 |
|
B | |
| 30457 | chr11 | 49200293 | G | T |
c.373C>A
|
p.Pro125Thr
|
- | 3.0 |
|
B | |
| 17341 | chr11 | 49200398 | A | C |
c.268T>G
|
p.Phe90Val
|
- | 3.0 |
|
B | |
| 30679 | chr11 | 49200422 | G | A |
c.244C>T
|
p.His82Tyr
|
3.0 |
|
B | ||
| 12285 | chr11 | 49206104 | C | T |
c.187G>A
|
p.Asp63Asn
|
- | 3.0 |
|
B |