Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24603 | chr2 | 177264580 | G | T |
c.-4C>A
|
-
|
- | 3.0 |
|
B | |
| 4638 | chr2 | 178447455 | C | T |
-
c.317+50G>A
|
-
-
|
- | 3.0 |
|
B | |
| 27114 | chr2 | 178527304 | A | G |
c.107684T>C
|
p.Ile35895Thr
|
- | 3.0 |
|
B | |
| 27592 | chr2 | 178528305 | C | G |
c.107346G>C
|
p.Gln35782His
|
- | 3.0 |
|
B | |
| 31884 | chr2 | 178528333 | G | T |
c.107318C>A
|
p.Thr35773Lys
|
- | 3.0 |
|
B | |
| 34072 | chr2 | 178528390 | C | T |
c.107261G>A
|
p.Arg35754Lys
|
3.0 |
|
B | ||
| 23995 | chr2 | 178530792 | C | T |
c.105823G>A
|
p.Glu35275Lys
|
3.0 |
|
B | ||
| 26765 | chr2 | 178530932 | A | G |
c.105683T>C
|
p.Val35228Ala
|
- | 3.0 |
|
B | |
| 13211 | chr2 | 178531527 | C | T |
c.105088G>A
|
p.Asp35030Asn
|
3.0 |
|
B | ||
| 26846 | chr2 | 178531706 | G | A |
c.104909C>T
|
p.Thr34970Ile
|
- | 3.0 |
|
B | |
| 29238 | chr2 | 178531962 | G | A |
c.104653C>T
|
p.Arg34885Ter
|
3.0 |
|
B | ||
| 26060 | chr2 | 178532157 | C | T |
c.104458G>A
|
p.Glu34820Lys
|
3.0 |
|
B | ||
| 28283 | chr2 | 178532202 | G | A |
c.104413C>T
|
p.Arg34805Ter
|
3.0 |
|
B | ||
| 18768 | chr2 | 178532583 | C | T |
c.104032G>A
|
p.Glu34678Lys
|
- | 3.0 |
|
B | |
| 17215 | chr2 | 178533387 | C | T |
c.103228G>A
|
p.Glu34410Lys
|
- | 3.0 |
|
B | |
| 26393 | chr2 | 178533437 | G | A |
c.103178C>T
|
p.Thr34393Ile
|
3.0 |
|
B | ||
| 25751 | chr2 | 178533495 | A | C |
c.103120T>G
|
p.Cys34374Gly
|
- | 3.0 |
|
B | |
| 13181 | chr2 | 178533498 | C | T |
c.103117G>A
|
p.Glu34373Lys
|
- | 3.0 |
|
B | |
| 22524 | chr2 | 178533776 | G | A |
c.102839C>T
|
p.Thr34280Ile
|
3.0 |
|
B | ||
| 21592 | chr2 | 178533798 | C | T |
c.102817G>A
|
p.Glu34273Lys
|
- | 3.0 |
|
B |