Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2817 | chr17 | 31358515 | T | TA |
c.8007dup
|
p.Ser2670IlefsTer23
|
- | 4.0 |
|
B | |
| 25080 | chr17 | 31358562 | G | A |
c.8053G>A
|
p.Val2685Met
|
- | 3.0 |
|
B | |
| 1111 | chr17 | 31358566 | A | T |
c.8057A>T
|
p.Gln2686Leu
|
- | 3.5 |
|
B | |
| 29231 | chr17 | 31358579 | C | G |
c.8070C>G
|
p.Tyr2690Ter
|
- | 4.0 |
|
B | |
| 9499 | chr17 | 31358989 | TG | T |
c.8136del
|
p.Trp2712CysfsTer27
|
- | 4.0 |
|
B | |
| 2299 | chr17 | 31360486 | G | A |
c.8161-1G>A
|
p.?
|
4.0 |
|
B | ||
| 2371 | chr17 | 31360530 | T | A |
c.8204T>A
|
p.Leu2735His
|
- | 3.0 |
|
B | |
| 27528 | chr17 | 31360589 | C | T |
c.8263C>T
|
p.Leu2755Phe
|
- | 3.0 |
|
B | |
| 29662 | chr17 | 31360598 | C | T |
c.8272C>T
|
p.Pro2758Ser
|
- | 3.0 |
|
B | |
| 35361 | chr17 | 31360719 | C | A |
c.8377+16C>A
|
-
|
- | 3.0 |
|
B | |
| 22386 | chr17 | 31360719 | C | T |
c.8377+16C>T
|
-
|
- | 3.0 |
|
B | |
| 21550 | chr17 | 31374076 | G | A |
c.8441G>A
|
p.Arg2814His
|
- | 3.0 |
|
B | |
| 19767 | chr17 | 31937451 | T | A |
c.205T>A
|
p.Leu69Ile
|
- | 3.0 |
|
B | |
| 10387 | chr17 | 31940458 | C | T |
c.358C>T
|
p.His120Tyr
|
- | 3.0 |
|
B | |
| 7748 | chr17 | 31966146 | G | A |
c.456-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 28852 | chr17 | 31966206 | T | C |
c.505+10T>C
|
-
|
- | 3.0 |
|
B | |
| 12030 | chr17 | 31975481 | G | A |
c.592-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 19898 | chr17 | 31975717 | AT | A |
c.823+15del
|
-
|
3.0 |
|
B | ||
| 19899 | chr17 | 31975717 | ATT | A |
c.823+14_823+15del
|
-
|
- | 3.0 |
|
B | |
| 25545 | chr17 | 31976553 | C | T |
c.856C>T
|
p.Arg286Ter
|
4.0 |
|
B |