Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5279 | chr12 | 49051344 | CAT | C |
c.2337_2338del
|
p.Cys780ArgfsTer4
|
- | 4.0 |
|
B | |
| 14032 | chr12 | 49051474 | G | A |
c.2209C>T
|
p.Arg737Trp
|
2.0 |
|
B | ||
| 31219 | chr12 | 49051551 | G | A |
c.2132C>T
|
p.Pro711Leu
|
2.0 |
|
B | ||
| 12488 | chr12 | 49051648 | G | T |
c.2035C>A
|
p.Pro679Thr
|
- | 3.0 |
|
B | |
| 14830 | chr12 | 49051938 | G | T |
c.1745C>A
|
p.Ser582Tyr
|
3.0 |
|
B | ||
| 4055 | chr12 | 49051989 | G | A |
c.1694C>T
|
p.Pro565Leu
|
2.5 |
|
B | ||
| 20099 | chr12 | 49052016 | G | A |
c.1667C>T
|
p.Pro556Leu
|
2.5 |
|
B | ||
| 2956 | chr12 | 49052167 | G | A |
c.1516C>T
|
p.Pro506Ser
|
2.5 |
|
B | ||
| 1729 | chr12 | 49052194 | G | T |
c.1489C>A
|
p.Pro497Thr
|
- | 3.0 |
|
B | |
| 16037 | chr12 | 49052293 | C | G |
c.1390G>C
|
p.Ala464Pro
|
- | 3.0 |
|
B | |
| 5575 | chr12 | 49052359 | G | A |
c.1324C>T
|
p.Pro442Ser
|
- | 3.0 |
|
B | |
| 20380 | chr12 | 49052382 | AG | A |
c.1300del
|
p.Leu434Ter
|
4.0 |
|
B | ||
| 1597 | chr12 | 49052416 | C | A |
c.1267G>T
|
p.Gly423Trp
|
- | 3.0 |
|
B | |
| 27733 | chr12 | 49052907 | C | T |
c.1112+8G>A
|
-
|
3.0 |
|
B | ||
| 23516 | chr12 | 49052952 | G | A |
c.1075C>T
|
p.Arg359Cys
|
2.5 |
|
B | ||
| 34513 | chr12 | 49053010 | C | G |
c.1017G>C
|
p.Trp339Cys
|
- | 3.0 |
|
B | |
| 7119 | chr12 | 49053024 | G | A |
c.1003C>T
|
p.Pro335Ser
|
3.0 |
|
B | ||
| 27983 | chr12 | 49053073 | C | T |
c.955-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 11166 | chr12 | 49053522 | G | A |
c.793C>T
|
p.Arg265Cys
|
2.5 |
|
B | ||
| 9714 | chr12 | 49053528 | G | A |
c.787C>T
|
p.Arg263Cys
|
2.5 |
|
B |