Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33690 | chr2 | 178741739 | T | A |
c.11494A>T
|
p.Ser3832Cys
|
- | 3.0 |
|
B | |
| 22270 | chr2 | 178741826 | C | T |
c.11407G>A
|
p.Glu3803Lys
|
- | 3.0 |
|
B | |
| 17235 | chr2 | 178745862 | G | A |
c.11312-3941C>T
|
-
|
- | 3.0 |
|
B | |
| 26070 | chr2 | 178746078 | C | T |
c.11312-4157G>A
|
-
|
3.0 |
|
B | ||
| 14877 | chr2 | 178746286 | C | T |
c.11312-4365G>A
|
-
|
- | 3.0 |
|
B | |
| 26313 | chr2 | 178746459 | A | T |
c.11312-4538T>A
|
-
|
- | 3.0 |
|
B | |
| 31455 | chr2 | 178746535 | G | T |
c.11312-4614C>A
|
-
|
- | 3.0 |
|
B | |
| 24900 | chr2 | 178746538 | G | T |
c.11312-4617C>A
|
-
|
3.0 |
|
B | ||
| 17234 | chr2 | 178746706 | C | T |
c.11312-4785G>A
|
-
|
- | 3.0 |
|
B | |
| 24982 | chr2 | 178746742 | T | A |
c.11312-4821A>T
|
-
|
- | 3.0 |
|
B | |
| 22838 | chr2 | 178746748 | G | A |
c.11312-4827C>T
|
-
|
3.0 |
|
B | ||
| 13984 | chr2 | 178746756 | T | C |
c.11312-4835A>G
|
-
|
- | 3.0 |
|
B | |
| 26956 | chr2 | 178746862 | C | T |
c.11312-4941G>A
|
-
|
3.0 |
|
B | ||
| 14546 | chr2 | 178746912 | C | T |
c.11312-4991G>A
|
-
|
3.0 |
|
B | ||
| 14876 | chr2 | 178747057 | C | T |
c.11312-5136G>A
|
-
|
- | 3.0 |
|
B | |
| 31206 | chr2 | 178747101 | C | T |
c.11312-5180G>A
|
-
|
- | 3.0 |
|
B | |
| 30082 | chr2 | 178747107 | G | A |
c.11312-5186C>T
|
-
|
- | 3.0 |
|
B | |
| 30273 | chr2 | 178747236 | G | A |
c.11312-5315C>T
|
-
|
- | 3.0 |
|
B | |
| 23407 | chr2 | 178747453 | C | G |
c.11312-5532G>C
|
-
|
- | 3.0 |
|
B | |
| 14629 | chr2 | 178747738 | G | A |
c.11311+5386C>T
|
-
|
- | 3.0 |
|
B |