Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29661 | chr16 | 81912592 | C | T |
c.1935-5C>T
|
-
|
2.0 |
|
B | ||
| 34639 | chr16 | 81919639 | C | A |
c.2210C>A
|
p.Pro737His
|
- | 3.0 |
|
B | |
| 11200 | chr16 | 81921183 | T | TG |
c.2236-15_2236-14insG
|
-
|
2.0 |
|
B | ||
| 11001 | chr16 | 81921184 | C | G |
c.2236-14C>G
|
-
|
1.0 |
|
B | ||
| 20408 | chr16 | 81921184 | CT | C |
c.2236-5del
|
-
|
3.0 |
|
B | ||
| 11607 | chr16 | 81921286 | C | A |
c.2307+17C>A
|
-
|
- | 3.0 |
|
B | |
| 15986 | chr16 | 81923489 | A | C |
c.2312A>C
|
p.Gln771Pro
|
- | 3.0 |
|
B | |
| 11478 | chr16 | 81927161 | G | A |
c.2497G>A
|
p.Glu833Lys
|
3.0 |
|
B | ||
| 6115 | chr16 | 81928579 | G | C |
c.2536G>C
|
p.Gly846Arg
|
- | 3.0 |
|
B | |
| 11165 | chr16 | 81928621 | G | A |
c.2578G>A
|
p.Val860Ile
|
3.0 |
|
B | ||
| 28923 | chr16 | 81928623 | C | T |
c.2580C>T
|
p.Val860=
|
2.0 |
|
B | ||
| 1531 | chr16 | 81928628 | C | T |
c.2581+4C>T
|
-
|
3.0 |
|
B | ||
| 20715 | chr16 | 81934474 | G | A |
c.2785G>A
|
p.Glu929Lys
|
- | 3.0 |
|
B | |
| 32876 | chr16 | 81934535 | A | G |
c.2842+4A>G
|
-
|
3.0 |
|
B | ||
| 6368 | chr16 | 81936184 | G | A |
c.2858G>A
|
p.Arg953Gln
|
3.0 |
|
B | ||
| 13129 | chr16 | 81936240 | G | A |
c.2914G>A
|
p.Val972Ile
|
3.0 |
|
B | ||
| 31002 | chr16 | 81936279 | G | T |
c.2953G>T
|
p.Val985Phe
|
- | 3.0 |
|
B | |
| 17933 | chr16 | 81936373 | C | T |
c.3047C>T
|
p.Thr1016Met
|
3.0 |
|
B | ||
| 21660 | chr16 | 81937740 | G | C |
c.3053-18G>C
|
-
|
3.0 |
|
B | ||
| 30198 | chr16 | 81937749 | C | T |
c.3053-9C>T
|
-
|
3.0 |
|
B |