Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20849 | chr2 | 21012330 | C | T |
c.4538G>A
|
p.Arg1513Gln
|
2.0 |
|
B | ||
| 32944 | chr2 | 21012454 | C | T |
c.4414G>A
|
p.Asp1472Asn
|
3.0 |
|
B | ||
| 22253 | chr2 | 21012480 | G | A |
c.4388C>T
|
p.Pro1463Leu
|
3.0 |
|
B | ||
| 12617 | chr2 | 21012517 | C | A |
c.4351G>T
|
p.Gly1451Cys
|
3.0 |
|
B | ||
| 32730 | chr2 | 21012570 | G | A |
c.4298C>T
|
p.Ser1433Leu
|
2.5 |
|
B | ||
| 23428 | chr2 | 21013232 | G | T |
c.4144C>A
|
p.His1382Asn
|
- | 3.0 |
|
B | |
| 17203 | chr2 | 21013267 | G | A |
c.4109C>T
|
p.Ser1370Phe
|
3.0 |
|
B | ||
| 29545 | chr2 | 21013427 | T | C |
c.3949A>G
|
p.Arg1317Gly
|
- | 3.0 |
|
B | |
| 14177 | chr2 | 21014605 | C | A |
c.3697-12G>T
|
-
|
- | 3.0 |
|
B | |
| 34054 | chr2 | 21015168 | G | C |
c.3601C>G
|
p.Pro1201Ala
|
- | 3.0 |
|
B | |
| 16526 | chr2 | 21015236 | C | T |
c.3533G>A
|
p.Trp1178Ter
|
- | 3.0 |
|
B | |
| 12112 | chr2 | 21015393 | G | A |
c.3485C>T
|
p.Ser1162Phe
|
- | 3.0 |
|
B | |
| 34248 | chr2 | 21016427 | G | A |
c.3332+12C>T
|
-
|
2.5 |
|
B | ||
| 13368 | chr2 | 21016458 | C | T |
c.3313G>A
|
p.Ala1105Thr
|
2.0 |
|
B | ||
| 17204 | chr2 | 21016551 | C | T |
c.3220G>A
|
p.Gly1074Arg
|
2.5 |
|
B | ||
| 22826 | chr2 | 21016650 | C | T |
c.3122-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 14375 | chr2 | 21019835 | A | T |
c.2887T>A
|
p.Trp963Arg
|
- | 3.0 |
|
B | |
| 11425 | chr2 | 21023003 | C | T |
c.2644G>A
|
p.Glu882Lys
|
- | 3.0 |
|
B | |
| 23625 | chr2 | 21023560 | C | A |
c.2569G>T
|
p.Gly857Ter
|
- | 3.0 |
|
B | |
| 15407 | chr2 | 21023583 | G | A |
c.2546C>T
|
p.Ser849Phe
|
- | 3.0 |
|
B |