Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22276 | chr2 | 188994560 | G | A |
c.1313G>A
|
p.Gly438Asp
|
- | 3.0 |
|
B | |
| 32996 | chr2 | 188994577 | G | A |
c.1330G>A
|
p.Gly444Arg
|
3.0 |
|
B | ||
| 2219 | chr2 | 188994592 | C | T |
c.1345C>T
|
p.Arg449Cys
|
3.0 |
|
B | ||
| 34859 | chr2 | 188994708 | C | CT |
c.1348-4dup
|
-
|
1.5 |
|
B | ||
| 19861 | chr2 | 188994708 | CT | C |
c.1348-4del
|
-
|
1.0 |
|
B | ||
| 19862 | chr2 | 188994708 | CTT | C |
c.1348-5_1348-4del
|
-
|
2.0 |
|
B | ||
| 28739 | chr2 | 188994722 | AG | A |
c.1349del
|
p.Gly450ValfsTer86
|
3.0 |
|
B | ||
| 21264 | chr2 | 188994729 | G | C |
c.1353G>C
|
p.Glu451Asp
|
- | 3.0 |
|
B | |
| 7477 | chr2 | 188994743 | G | T |
c.1367G>T
|
p.Gly456Val
|
- | 3.0 |
|
B | |
| 21296 | chr2 | 188994755 | C | T |
c.1379C>T
|
p.Ala460Val
|
3.0 |
|
B | ||
| 31257 | chr2 | 188994844 | TG | T |
c.1455+17del
|
-
|
- | 3.0 |
|
B | |
| 10683 | chr2 | 188995030 | C | T |
c.1456-16C>T
|
-
|
- | 3.0 |
|
B | |
| 20978 | chr2 | 188995707 | C | T |
c.1525C>T
|
p.Arg509Cys
|
3.0 |
|
B | ||
| 33486 | chr2 | 188995728 | G | T |
c.1546G>T
|
p.Gly516Trp
|
3.0 |
|
B | ||
| 15981 | chr2 | 188996108 | T | C |
c.1609-17T>C
|
-
|
- | 3.0 |
|
B | |
| 21152 | chr2 | 188996447 | C | T |
c.1712C>T
|
p.Pro571Leu
|
- | 3.0 |
|
B | |
| 10485 | chr2 | 188996503 | T | C |
c.1761+7T>C
|
-
|
- | 3.0 |
|
B | |
| 23812 | chr2 | 188997172 | C | T |
c.1769C>T
|
p.Pro590Leu
|
- | 3.0 |
|
B | |
| 25344 | chr2 | 188997333 | T | C |
c.1816-3T>C
|
-
|
- | 3.0 |
|
B | |
| 25877 | chr2 | 188997712 | G | T |
c.1882G>T
|
p.Asp628Tyr
|
- | 3.0 |
|
B |