Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29811 | chr19 | 35721317 | C | T |
c.1970C>T
-
|
p.Ala657Val
-
|
- | 3.0 |
|
B | |
| 12214 | chr19 | 35721376 | C | T |
c.2029C>T
-
|
p.Pro677Ser
-
|
- | 3.0 |
|
B | |
| 12213 | chr19 | 35721377 | C | T |
c.2030C>T
-
|
p.Pro677Leu
-
|
- | 3.0 |
|
B | |
| 7471 | chr19 | 35721748 | G | A |
c.2401G>A
-
|
p.Val801Met
-
|
- | 3.0 |
|
B | |
| 35292 | chr19 | 35722358 | G | T |
c.2458-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 6601 | chr19 | 35722671 | G | A |
c.2675G>A
|
p.Arg892His
|
3.0 |
|
B | ||
| 23674 | chr19 | 35722725 | G | T |
c.2722+7G>T
|
-
|
- | 3.0 |
|
B | |
| 23675 | chr19 | 35722728 | G | T |
c.2722+10G>T
|
-
|
- | 3.0 |
|
B | |
| 10120 | chr19 | 35723040 | G | A |
c.2768G>A
|
p.Arg923Gln
|
2.5 |
|
B | ||
| 21882 | chr19 | 35723205 | G | T |
c.2933G>T
|
p.Cys978Phe
|
- | 3.0 |
|
B | |
| 31005 | chr19 | 35723247 | G | A |
c.2975G>A
|
p.Gly992Asp
|
- | 3.0 |
|
B | |
| 27589 | chr19 | 35723964 | CG | C |
c.3296del
|
p.Gly1099AlafsTer83
|
3.5 |
|
B | ||
| 816 | chr19 | 35723998 | C | T |
c.3325C>T
|
p.Arg1109Ter
|
- | 3.5 |
|
B | |
| 34352 | chr19 | 35724628 | C | T |
c.3335-9C>T
|
-
|
- | 3.0 |
|
B | |
| 34534 | chr19 | 35724744 | C | T |
c.3429+13C>T
|
-
|
2.5 |
|
B | ||
| 22211 | chr19 | 35725208 | C | G |
c.3529-12C>G
|
-
|
- | 3.0 |
|
B | |
| 5630 | chr19 | 35725245 | G | A |
c.3554G>A
|
p.Trp1185Ter
|
- | 3.5 |
|
B | |
| 9684 | chr19 | 35725493 | A | C |
c.3657A>C
|
p.Gln1219His
|
- | 3.0 |
|
B | |
| 6146 | chr19 | 35725512 | C | T |
c.3676C>T
|
p.His1226Tyr
|
- | 3.0 |
|
B | |
| 33078 | chr19 | 35725575 | C | T |
c.3739C>T
|
p.Arg1247Cys
|
- | 3.0 |
|
B |