Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10279 | chr19 | 10996366 | A | T |
c.1747A>T
|
p.Lys583Ter
|
- | 4.0 |
|
B | |
| 21560 | chr19 | 10996383 | G | A |
c.1761+3G>A
|
-
|
3.0 |
|
B | ||
| 28364 | chr19 | 10996482 | C | T |
c.1762-12C>T
|
-
|
2.0 |
|
B | ||
| 34089 | chr19 | 10996515 | C | G |
c.1783C>G
|
p.Gln595Glu
|
- | 3.0 |
|
B | |
| 21342 | chr19 | 11003027 | A | G |
c.1813-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 13732 | chr19 | 11003042 | C | T |
c.1826C>T
|
p.Thr609Ile
|
- | 3.0 |
|
B | |
| 12445 | chr19 | 11003321 | G | T |
c.1944-19G>T
|
-
|
1.5 |
|
B | ||
| 5712 | chr19 | 11003340 | G | GT |
c.1945dup
|
p.Tyr649LeufsTer2
|
- | 4.0 |
|
B | |
| 12847 | chr19 | 11003347 | G | A |
c.1951G>A
|
p.Val651Ile
|
- | 3.0 |
|
B | |
| 20538 | chr19 | 11003354 | C | T |
c.1958C>T
|
p.Pro653Leu
|
3.5 |
|
B | ||
| 32051 | chr19 | 11007911 | G | T |
c.2011G>T
|
p.Glu671Ter
|
- | 4.0 |
|
B | |
| 8540 | chr19 | 11010386 | C | G |
c.2129C>G
|
p.Ala710Gly
|
- | 3.0 |
|
B | |
| 11984 | chr19 | 11010421 | C | T |
c.2164C>T
|
p.Gln722Ter
|
4.0 |
|
B | ||
| 6542 | chr19 | 11013028 | A | T |
c.2354A>T
|
p.Lys785Met
|
- | 4.0 |
|
B | |
| 32634 | chr19 | 11013037 | A | C |
c.2363A>C
|
p.Gln788Pro
|
- | 3.5 |
|
B | |
| 8438 | chr19 | 11013090 | T | G |
c.2416T>G
|
p.Phe806Val
|
3.0 |
|
B | ||
| 30520 | chr19 | 11013112 | C | CG |
c.2438+1dup
|
p.?
|
- | 4.0 |
|
B | |
| 22111 | chr19 | 11018956 | G | A |
c.2439-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 27232 | chr19 | 11018958 | A | G |
c.2440A>G
|
p.Thr814Ala
|
- | 3.0 |
|
B | |
| 16181 | chr19 | 11018973 | G | A |
c.2455G>A
|
p.Ala819Thr
|
2.5 |
|
B |