Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12971 | chr16 | 81786116 | G | A |
c.127G>A
|
p.Val43Ile
|
3.0 |
|
B | ||
| 18332 | chr16 | 81859113 | C | T |
c.432-3C>T
|
-
|
2.0 |
|
B | ||
| 27363 | chr16 | 81859168 | G | C |
c.479+5G>C
|
-
|
- | 3.0 |
|
B | |
| 2816 | chr16 | 81869267 | G | T |
c.533G>T
|
p.Ser178Ile
|
- | 3.0 |
|
B | |
| 28618 | chr16 | 81870940 | G | T |
c.648+5G>T
|
-
|
- | 3.0 |
|
B | |
| 7708 | chr16 | 81883261 | G | A |
c.693-8G>A
|
-
|
3.0 |
|
B | ||
| 25772 | chr16 | 81889293 | T | C |
c.867+20T>C
|
-
|
- | 3.0 |
|
B | |
| 18167 | chr16 | 81891592 | T | G |
c.986+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 26516 | chr16 | 81893692 | T | C |
c.987-17T>C
|
-
|
- | 3.0 |
|
B | |
| 15103 | chr16 | 81893795 | G | T |
c.1072+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 2903 | chr16 | 81900760 | C | T |
c.1342C>T
|
p.Arg448Trp
|
2.0 |
|
B | ||
| 10946 | chr16 | 81905520 | C | G |
c.1467+13C>G
|
-
|
- | 3.0 |
|
B | |
| 32835 | chr16 | 81907769 | C | A |
c.1552C>A
|
p.Pro518Thr
|
- | 3.0 |
|
B | |
| 29660 | chr16 | 81908403 | C | T |
c.1558-13C>T
|
-
|
- | 3.0 |
|
B | |
| 5458 | chr16 | 81908548 | C | T |
c.1690C>T
|
p.Arg564Trp
|
- | 3.0 |
|
B | |
| 12608 | chr16 | 81908585 | C | T |
c.1727C>T
|
p.Ser576Phe
|
3.0 |
|
B | ||
| 4056 | chr16 | 81910521 | C | T |
c.1735C>T
|
p.Arg579Trp
|
3.0 |
|
B | ||
| 27779 | chr16 | 81910645 | C | T |
c.1859C>T
|
p.Thr620Met
|
2.0 |
|
B | ||
| 28576 | chr16 | 81910662 | G | A |
c.1876G>A
|
p.Glu626Lys
|
3.0 |
|
B | ||
| 34183 | chr16 | 81910725 | G | A |
c.1934+5G>A
|
-
|
3.0 |
|
B |