Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10889 | chr14 | 94379607 | C | T |
c.922G>A
|
p.Ala308Thr
|
2.5 |
|
B | ||
| 30228 | chr14 | 94380881 | C | T |
c.907G>A
|
p.Glu303Lys
|
- | 3.0 |
|
B | |
| 2652 | chr14 | 94380930 | G | T |
c.858C>A
|
p.His286Gln
|
- | 3.0 |
|
B | |
| 9988 | chr14 | 94381038 | C | T |
c.750G>A
|
p.Met250Ile
|
- | 3.0 |
|
B | |
| 17997 | chr14 | 94381049 | G | A |
c.739C>T
|
p.Arg247Cys
|
3.0 |
|
B | ||
| 29656 | chr14 | 94381053 | C | T |
c.735G>A
|
p.Met245Ile
|
2.0 |
|
B | ||
| 6056 | chr14 | 94381114 | T | A |
c.674A>T
|
p.Lys225Met
|
- | 3.0 |
|
B | |
| 14251 | chr14 | 94381131 | C | G |
c.657G>C
|
p.Glu219Asp
|
- | 3.0 |
|
B | |
| 32571 | chr14 | 94382627 | G | A |
c.611C>T
|
p.Thr204Ile
|
- | 3.0 |
|
B | |
| 18875 | chr14 | 94383051 | G | A |
c.187C>T
|
p.Arg63Cys
|
3.0 |
|
B | ||
| 5210 | chr14 | 94467164 | C | T |
c.847G>A
|
p.Glu283Lys
|
- | 3.0 |
|
B | |
| 15267 | chr14 | 94487401 | C | T |
c.1147G>A
|
p.Val383Ile
|
3.0 |
|
B | ||
| 27651 | chr14 | 95090616 | A | T |
c.5651T>A
|
p.Val1884Glu
|
- | 3.0 |
|
B | |
| 35347 | chr14 | 95090645 | G | GT |
c.5621dup
|
p.Tyr1874Ter
|
4.0 |
|
B | ||
| 13043 | chr14 | 95090645 | G | T |
c.5622C>A
|
p.Tyr1874Ter
|
4.0 |
|
B | ||
| 31922 | chr14 | 95091019 | A | G |
c.5603+15T>C
|
-
|
- | 2.0 |
|
B | |
| 28038 | chr14 | 95091110 | C | T |
c.5528-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 21008 | chr14 | 95091283 | G | A |
c.5447C>T
|
p.Ala1816Val
|
3.0 |
|
B | ||
| 1442 | chr14 | 95091289 | G | A |
c.5441C>T
|
p.Ser1814Leu
|
3.5 |
|
B | ||
| 26580 | chr14 | 95091293 | C | T |
c.5437G>A
|
p.Glu1813Lys
|
3.0 |
|
B |