Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28113 | chr2 | 99593777 | C | A |
c.1884G>T
|
p.Arg628Ser
|
- | 3.0 |
|
B | |
| 24346 | chr2 | 99593830 | C | T |
c.1831G>A
|
p.Ala611Thr
|
3.0 |
|
B | ||
| 17092 | chr2 | 99593832 | G | T |
c.1829C>A
|
p.Ala610Asp
|
3.0 |
|
B | ||
| 26325 | chr2 | 99593877 | G | A |
c.1784C>T
|
p.Ser595Leu
|
- | 3.0 |
|
B | |
| 21683 | chr2 | 99593893 | G | A |
c.1768C>T
|
p.Arg590Cys
|
3.0 |
|
B | ||
| 31096 | chr2 | 99593922 | C | T |
c.1739G>A
|
p.Arg580Gln
|
- | 3.0 |
|
B | |
| 15587 | chr2 | 99593931 | G | A |
c.1730C>T
|
p.Ala577Val
|
- | 3.0 |
|
B | |
| 23152 | chr2 | 99593991 | G | A |
c.1670C>T
|
p.Ala557Val
|
3.0 |
|
B | ||
| 29600 | chr2 | 99593992 | C | T |
c.1669G>A
|
p.Ala557Thr
|
- | 3.0 |
|
B | |
| 23571 | chr2 | 99594259 | G | C |
c.1402C>G
|
p.Leu468Val
|
3.0 |
|
B | ||
| 21440 | chr2 | 99601548 | C | T |
c.1258G>A
|
p.Gly420Ser
|
2.5 |
|
B | ||
| 33159 | chr2 | 99601548 | CGCT | C |
c.1255_1257del
|
p.Ser419del
|
3.0 |
|
B | ||
| 12708 | chr2 | 99649645 | G | A |
c.1165C>T
|
p.Leu389Phe
|
- | 3.0 |
|
B | |
| 33483 | chr2 | 99649654 | T | A |
c.1156A>T
|
p.Arg386Ter
|
- | 3.0 |
|
B | |
| 20280 | chr2 | 99837536 | GA | G |
c.874-13del
|
-
|
3.0 |
|
B | ||
| 16143 | chr2 | 100006730 | C | T |
c.775G>A
|
p.Val259Met
|
2.5 |
|
B | ||
| 28987 | chr2 | 100007020 | G | A |
c.488-3C>T
|
-
|
- | 3.0 |
|
B | |
| 13699 | chr2 | 100007445 | C | A |
c.190G>T
|
p.Glu64Ter
|
- | 3.0 |
|
B | |
| 29150 | chr2 | 100011571 | C | A |
c.54-2639G>T
|
-
|
- | 3.0 |
|
B | |
| 2698 | chr2 | 102347972 | T | TGCAATTA |
c.998_999insGCAATTA
|
p.Ile333MetfsTer7
|
- | 3.0 |
|
B |