Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4244 | chr3 | 105720251 | C | A |
c.1204-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 10297 | chr3 | 105737259 | C | T |
c.984-1G>A
|
p.?
|
3.5 |
|
B | ||
| 13622 | chr3 | 105745929 | G | C |
c.833C>G
|
p.Thr278Ser
|
- | 3.0 |
|
B | |
| 14038 | chr3 | 105745972 | G | A |
c.790C>T
|
p.Leu264Phe
|
- | 3.0 |
|
B | |
| 2354 | chr3 | 105853452 | T | G |
c.381A>C
|
p.Glu127Asp
|
- | 3.0 |
|
B | |
| 10114 | chr3 | 105853577 | G | A |
c.256C>T
|
p.Arg86Ter
|
- | 3.5 |
|
B | |
| 12087 | chr3 | 105867429 | C | G |
c.149G>C
|
p.Trp50Ser
|
- | 3.0 |
|
B | |
| 16442 | chr3 | 105867431 | A | G |
c.147T>C
|
p.Thr49=
|
3.0 |
|
B | ||
| 4647 | chr3 | 108460361 | G | A |
c.1871C>T
|
p.Pro624Leu
|
- | 3.0 |
|
B | |
| 5164 | chr3 | 108501728 | C | T |
c.323G>A
|
p.Gly108Asp
|
- | 3.0 |
|
B | |
| 3364 | chr3 | 108505785 | C | T |
c.133G>A
|
p.Glu45Lys
|
3.0 |
|
B | ||
| 4648 | chr3 | 112618988 | C | T |
c.2152G>A
|
p.Asp718Asn
|
- | 3.0 |
|
B | |
| 1006 | chr3 | 113658634 | GT | G |
c.3047del
|
p.Asn1016ThrfsTer23
|
2.5 |
|
B | ||
| 19416 | chr3 | 113658634 | GTT | G |
c.3046_3047del
|
p.Asn1016ProfsTer8
|
3.0 |
|
B | ||
| 2856 | chr3 | 119912727 | G | A |
c.692C>T
|
p.Ala231Val
|
- | 3.0 |
|
B | |
| 20805 | chr3 | 119912817 | G | A |
c.609-7C>T
|
-
|
- | 3.0 |
|
B | |
| 12484 | chr3 | 119916152 | C | T |
c.500G>A
|
p.Arg167Gln
|
3.0 |
|
B | ||
| 8558 | chr3 | 120002171 | C | A |
c.157G>T
|
p.Glu53Ter
|
- | 3.0 |
|
B | |
| 35448 | chr3 | 120002183 | C | A |
c.145G>T
|
p.Asp49Tyr
|
- | 3.0 |
|
B | |
| 24038 | chr3 | 120002241 | TA | T |
c.89-3del
|
-
|
- | 3.0 |
|
B |