Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25415 | chr3 | 77574625 | G | A |
c.2110G>A
|
p.Val704Ile
|
- | 3.0 |
|
B | |
| 15762 | chr3 | 77574638 | A | G |
c.2123A>G
|
p.Lys708Arg
|
3.0 |
|
B | ||
| 29113 | chr3 | 77574710 | C | T |
c.2195C>T
|
p.Thr732Met
|
3.0 |
|
B | ||
| 33088 | chr3 | 77574729 | A | T |
c.2214A>T
|
p.Glu738Asp
|
- | 3.0 |
|
B | |
| 16286 | chr3 | 77577492 | C | A |
c.2218C>A
|
p.Pro740Thr
|
- | 3.0 |
|
B | |
| 14865 | chr3 | 77577576 | C | T |
c.2302C>T
|
p.Pro768Ser
|
- | 3.0 |
|
B | |
| 16096 | chr3 | 77577624 | G | A |
c.2340+10G>A
|
-
|
3.0 |
|
B | ||
| 26223 | chr3 | 77577628 | G | A |
c.2340+14G>A
|
-
|
- | 3.0 |
|
B | |
| 17952 | chr3 | 77580023 | G | T |
c.2417G>T
|
p.Gly806Val
|
- | 3.0 |
|
B | |
| 24983 | chr3 | 77580026 | G | T |
c.2420G>T
|
p.Gly807Val
|
- | 3.0 |
|
B | |
| 31101 | chr3 | 77580083 | T | C |
c.2477T>C
|
p.Val826Ala
|
3.0 |
|
B | ||
| 33107 | chr3 | 77580118 | G | A |
c.2512G>A
|
p.Gly838Arg
|
3.0 |
|
B | ||
| 30100 | chr3 | 77588733 | C | T |
c.2513-18C>T
|
-
|
- | 3.0 |
|
B | |
| 22284 | chr3 | 77595131 | T | A |
c.2696-11T>A
|
-
|
- | 3.0 |
|
B | |
| 16589 | chr3 | 77595137 | C | T |
c.2696-5C>T
|
-
|
3.5 |
|
B | ||
| 14641 | chr3 | 77596614 | C | T |
c.2739-9C>T
|
-
|
- | 3.0 |
|
B | |
| 21612 | chr3 | 77602193 | C | T |
c.2867-17C>T
|
-
|
3.0 |
|
B | ||
| 26079 | chr3 | 77602407 | C | T |
c.3064C>T
|
p.Pro1022Ser
|
3.0 |
|
B | ||
| 34838 | chr3 | 77602483 | G | A |
c.3140G>A
|
p.Gly1047Asp
|
3.5 |
|
B | ||
| 16936 | chr3 | 77607886 | T | TC |
c.3245dup
|
p.Val1083SerfsTer22
|
3.5 |
|
B |