Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29058 | chr14 | 68790057 | C | T |
c.493G>A
|
p.Gly165Ser
|
- | 3.0 |
|
B | |
| 31822 | chr14 | 68790061 | G | GGT |
c.487_488dup
|
p.Ile164ProfsTer70
|
- | 4.0 |
|
B | |
| 5402 | chr14 | 68790136 | T | TGC |
c.412_413dup
|
p.Gly140ThrfsTer9
|
- | 3.5 |
|
B | |
| 20788 | chr14 | 68790183 | AG | A |
c.366del
|
p.Phe123LeufsTer25
|
- | 3.5 |
|
B | |
| 7679 | chr14 | 68790185 | G | A |
c.365C>T
|
p.Pro122Leu
|
- | 3.0 |
|
B | |
| 7329 | chr14 | 68790312 | T | G |
c.238A>C
|
p.Ser80Arg
|
- | 3.0 |
|
B | |
| 14040 | chr14 | 68790338 | A | AG |
c.211dup
|
p.Leu71ProfsTer4
|
- | 3.5 |
|
B | |
| 32787 | chr14 | 68790343 | G | C |
c.207C>G
|
p.Ser69Arg
|
- | 3.0 |
|
B | |
| 32236 | chr14 | 68790351 | GCTGGTTCTGGTGGAACTTGGAGCTGGGCAGGGTGA | G |
c.164_198del
|
p.Val55AlafsTer8
|
- | 3.5 |
|
B | |
| 17357 | chr14 | 68790362 | TG | T |
c.187del
|
p.His63ThrfsTer17
|
- | 3.5 |
|
B | |
| 2883 | chr14 | 68790387 | C | CT |
c.162dup
|
p.Val55SerfsTer20
|
- | 4.0 |
|
B | |
| 10506 | chr14 | 68790430 | T | TGC |
c.118_119dup
|
p.Val41GlnfsTer40
|
- | 3.5 |
|
B | |
| 30703 | chr14 | 68792870 | G | C |
c.57+12C>G
|
-
|
- | 3.0 |
|
B | |
| 30715 | chr14 | 68792900 | C | A |
c.39G>T
|
p.Leu13Phe
|
- | 3.0 |
|
B | |
| 8895 | chr14 | 68795839 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 24352 | chr14 | 68795960 | C | G |
-
|
-
|
- | 3.0 |
|
B | |
| 10227 | chr14 | 68796029 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 12229 | chr14 | 70458014 | G | C |
c.515G>C
|
p.Arg172Thr
|
- | 3.0 |
|
B | |
| 3488 | chr14 | 71588761 | C | A |
c.889C>A
|
p.Arg297Ser
|
- | 3.0 |
|
B | |
| 33876 | chr14 | 75030725 | T | TA |
c.3828-24dup
|
-
|
1.5 |
|
B |