Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20939 | chr3 | 13628920 | C | T |
c.2585C>T
|
p.Thr862Met
|
3.0 |
|
B | ||
| 17158 | chr3 | 13629293 | G | T |
c.2842+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 35526 | chr3 | 13630762 | A | T |
c.3032A>T
|
p.Gln1011Leu
|
- | 3.0 |
|
B | |
| 29366 | chr3 | 13631388 | C | A |
c.3145C>A
|
p.Pro1049Thr
|
- | 3.5 |
|
B | |
| 33251 | chr3 | 13631410 | G | A |
c.3167G>A
|
p.Cys1056Tyr
|
- | 3.0 |
|
B | |
| 30722 | chr3 | 13631415 | G | C |
c.3172G>C
|
p.Glu1058Gln
|
- | 3.0 |
|
B | |
| 17738 | chr3 | 13637666 | C | G |
c.3443C>G
|
p.Ala1148Gly
|
- | 3.0 |
|
B | |
| 27593 | chr3 | 14130865 | C | T |
c.206C>T
|
p.Ser69Leu
|
2.0 |
|
B | ||
| 25414 | chr3 | 14132944 | C | T |
c.512+9C>T
|
-
|
- | 3.0 |
|
B | |
| 28685 | chr3 | 14133828 | C | T |
c.583+19C>T
|
-
|
- | 3.0 |
|
B | |
| 28882 | chr3 | 14134770 | G | T |
c.584G>T
|
p.Gly195Val
|
3.0 |
|
B | ||
| 25796 | chr3 | 14135855 | A | G |
c.829A>G
|
p.Thr277Ala
|
- | 3.0 |
|
B | |
| 27215 | chr3 | 14141674 | T | A |
-
c.1082T>A
|
-
p.Leu361Gln
|
- | 3.0 |
|
B | |
| 10965 | chr3 | 14145949 | G | T |
c.2815C>A
-
|
p.Gln939Lys
-
|
1.0 |
|
B | ||
| 20895 | chr3 | 14147370 | TCTC | T |
c.2521_2523del
-
|
p.Glu841del
-
|
3.0 |
|
B | ||
| 18995 | chr3 | 14148610 | A | G |
c.2372T>C
-
|
p.Val791Ala
-
|
- | 3.0 |
|
B | |
| 21020 | chr3 | 14152327 | C | T |
c.2115+8G>A
|
-
|
- | 3.0 |
|
B | |
| 21021 | chr3 | 14152417 | C | T |
c.2034-1G>A
|
p.?
|
4.0 |
|
B | ||
| 6763 | chr3 | 14156470 | G | A |
c.1898C>T
|
p.Pro633Leu
|
3.0 |
|
B | ||
| 7531 | chr3 | 14158568 | C | A |
c.1315G>T
|
p.Ala439Ser
|
- | 3.0 |
|
B |