Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33305 | chr2 | 178649878 | C | A |
c.39834G>T
|
p.Lys13278Asn
|
- | 3.0 |
|
B | |
| 17602 | chr2 | 178650190 | T | A |
c.39791A>T
|
p.Glu13264Val
|
- | 3.0 |
|
B | |
| 19295 | chr2 | 178650194 | C | A |
c.39787G>T
|
p.Glu13263Ter
|
3.0 |
|
B | ||
| 26548 | chr2 | 178650736 | C | A |
c.39709+15G>T
|
-
|
- | 3.0 |
|
B | |
| 14626 | chr2 | 178651282 | C | T |
c.39586G>A
|
p.Val13196Ile
|
- | 3.0 |
|
B | |
| 33845 | chr2 | 178651699 | C | T |
c.39430G>A
|
p.Val13144Ile
|
2.0 |
|
B | ||
| 28428 | chr2 | 178651884 | C | A |
c.39379G>T
|
p.Val13127Leu
|
3.0 |
|
B | ||
| 34457 | chr2 | 178652150 | C | T |
c.39241G>A
|
p.Glu13081Lys
|
- | 3.0 |
|
B | |
| 17469 | chr2 | 178652308 | ACTTT | A |
c.39163_39166del
|
p.Lys13055CysfsTer22
|
3.0 |
|
B | ||
| 27858 | chr2 | 178652336 | G | A |
c.39139C>T
|
p.Pro13047Ser
|
3.0 |
|
B | ||
| 14791 | chr2 | 178652478 | G | C |
c.39107C>G
|
p.Pro13036Arg
|
- | 3.0 |
|
B | |
| 28542 | chr2 | 178652522 | T | G |
c.39063A>C
|
p.Glu13021Asp
|
- | 3.0 |
|
B | |
| 30581 | chr2 | 178652524 | C | T |
c.39061G>A
|
p.Glu13021Lys
|
- | 3.0 |
|
B | |
| 22813 | chr2 | 178652544 | T | G |
c.39044-3A>C
|
-
|
- | 3.0 |
|
B | |
| 26271 | chr2 | 178652550 | A | G |
c.39044-9T>C
|
-
|
3.0 |
|
B | ||
| 26954 | chr2 | 178652671 | C | T |
c.39025G>A
|
p.Glu13009Lys
|
3.0 |
|
B | ||
| 23691 | chr2 | 178652691 | G | A |
c.39005C>T
|
p.Ser13002Leu
|
3.0 |
|
B | ||
| 20572 | chr2 | 178652837 | G | C |
c.38959+11C>G
|
-
|
- | 3.0 |
|
B | |
| 35001 | chr2 | 178652904 | G | T |
c.38903C>A
|
p.Pro12968His
|
- | 3.0 |
|
B | |
| 16575 | chr2 | 178652919 | G | A |
c.38888C>T
|
p.Pro12963Leu
|
- | 3.0 |
|
B |