Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33184 | chr14 | 102086095 | C | A |
c.192G>T
|
p.Leu64Phe
|
- | 3.0 |
|
B | |
| 10063 | chr14 | 102086309 | C | T |
c.70G>A
|
p.Ala24Thr
|
- | 3.0 |
|
B | |
| 27267 | chr14 | 102102089 | G | A |
c.156-4C>T
|
-
|
- | 3.0 |
|
B | |
| 34721 | chr14 | 102102105 | C | T |
c.156-20G>A
|
-
|
3.0 |
|
B | ||
| 30248 | chr14 | 102139296 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 26146 | chr14 | 102139357 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 13593 | chr14 | 102449866 | A | C |
c.3313A>C
|
p.Ile1105Leu
|
3.0 |
|
B | ||
| 19744 | chr14 | 102870251 | C | T |
c.50C>T
|
p.Pro17Leu
|
3.0 |
|
B | ||
| 16889 | chr14 | 102870458 | C | T |
c.245+12C>T
|
-
|
2.0 |
|
B | ||
| 25107 | chr14 | 102871987 | T | A |
c.297+19T>A
|
-
|
1.0 |
|
B | ||
| 14221 | chr14 | 102876475 | G | A |
c.520G>A
|
p.Glu174Lys
|
3.0 |
|
B | ||
| 19353 | chr14 | 102886214 | G | T |
c.596G>T
|
p.Cys199Phe
|
2.5 |
|
B | ||
| 11994 | chr14 | 102886272 | A | C |
c.651+3A>C
|
-
|
- | 3.0 |
|
B | |
| 3140 | chr14 | 102886272 | A | T |
c.651+3A>T
|
-
|
- | 3.0 |
|
B | |
| 7860 | chr14 | 102889611 | A | T |
c.703A>T
|
p.Lys235Ter
|
- | 3.5 |
|
B | |
| 25509 | chr14 | 102891367 | G | A |
c.769G>A
|
p.Val257Met
|
3.0 |
|
B | ||
| 16979 | chr14 | 102897256 | T | G |
c.820-5T>G
|
-
|
- | 3.0 |
|
B | |
| 2200 | chr14 | 102897326 | A | G |
c.885A>G
|
p.Ile295Met
|
- | 3.0 |
|
B | |
| 1273 | chr14 | 102897342 | G | A |
c.901G>A
|
p.Glu301Lys
|
- | 3.0 |
|
B | |
| 5275 | chr14 | 102905227 | C | A |
c.1150C>A
|
p.Gln384Lys
|
- | 3.0 |
|
B |