Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12198 | chr12 | 124356761 | T | A |
c.3122A>T
|
p.Lys1041Met
|
- | 3.0 |
|
B | |
| 25101 | chr12 | 124362134 | T | C |
c.3092A>G
|
p.Asp1031Gly
|
3.0 |
|
B | ||
| 19675 | chr12 | 124363681 | TG | T |
c.2925del
|
p.Ile976SerfsTer87
|
4.0 |
|
B | ||
| 32274 | chr12 | 124372011 | C | A |
c.2807+11G>T
|
-
|
3.0 |
|
B | ||
| 9834 | chr12 | 124372097 | G | T |
c.2732C>A
|
p.Ala911Asp
|
- | 3.0 |
|
B | |
| 9016 | chr12 | 124372172 | G | A |
c.2657C>T
|
p.Thr886Met
|
3.0 |
|
B | ||
| 12290 | chr12 | 124372247 | G | A |
c.2582C>T
|
p.Pro861Leu
|
- | 3.0 |
|
B | |
| 4706 | chr12 | 124372446 | C | A |
c.2383G>T
|
p.Glu795Ter
|
- | 4.0 |
|
B | |
| 6055 | chr12 | 124372476 | G | A |
c.2353C>T
|
p.Pro785Ser
|
- | 3.0 |
|
B | |
| 1286 | chr12 | 124374427 | TC | T |
c.2203del
|
p.Glu735AsnfsTer229
|
- | 4.0 |
|
B | |
| 8130 | chr12 | 124378258 | C | T |
c.2146G>A
|
p.Glu716Lys
|
- | 3.0 |
|
B | |
| 623 | chr12 | 124378338 | G | A |
c.2066C>T
|
p.Ala689Val
|
3.0 |
|
B | ||
| 30941 | chr12 | 124378371 | T | G |
c.2033A>C
|
p.Asn678Thr
|
3.0 |
|
B | ||
| 21879 | chr12 | 124388709 | C | G |
c.1877-2822G>C
|
-
|
- | 3.0 |
|
B | |
| 14533 | chr12 | 124388739 | G | A |
c.1877-2852C>T
|
-
|
3.0 |
|
B | ||
| 24088 | chr12 | 124400507 | C | T |
c.1807G>A
|
p.Glu603Lys
|
- | 3.0 |
|
B | |
| 21280 | chr12 | 124402406 | G | C |
c.1638C>G
|
p.Leu546=
|
- | 3.0 |
|
B | |
| 14135 | chr12 | 124402414 | C | T |
c.1630G>A
|
p.Asp544Asn
|
- | 3.0 |
|
B | |
| 9875 | chr12 | 124402447 | C | A |
c.1597G>T
|
p.Glu533Ter
|
- | 4.0 |
|
B | |
| 16378 | chr12 | 124419950 | C | T |
c.1482+7G>A
|
-
|
3.0 |
|
B |