Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27853 | chr2 | 178562604 | G | A |
c.83528C>T
|
p.Ser27843Phe
|
- | 3.0 |
|
B | |
| 18018 | chr2 | 178562716 | G | A |
c.83416C>T
|
p.Arg27806Ter
|
3.0 |
|
B | ||
| 25752 | chr2 | 178562722 | C | T |
c.83410G>A
|
p.Glu27804Lys
|
2.0 |
|
B | ||
| 14622 | chr2 | 178562805 | C | T |
c.83327G>A
|
p.Arg27776Lys
|
- | 3.0 |
|
B | |
| 17254 | chr2 | 178563043 | C | A |
c.83089G>T
|
p.Val27697Phe
|
- | 3.0 |
|
B | |
| 31180 | chr2 | 178563108 | A | G |
c.83024T>C
|
p.Ile27675Thr
|
3.0 |
|
B | ||
| 26790 | chr2 | 178563126 | C | T |
c.83006G>A
|
p.Arg27669Lys
|
3.0 |
|
B | ||
| 25610 | chr2 | 178563360 | C | T |
c.82772G>A
|
p.Trp27591Ter
|
- | 3.0 |
|
B | |
| 20890 | chr2 | 178563493 | C | T |
c.82639G>A
|
p.Glu27547Lys
|
3.0 |
|
B | ||
| 32349 | chr2 | 178563516 | G | C |
c.82616C>G
|
p.Ser27539Cys
|
3.0 |
|
B | ||
| 30575 | chr2 | 178563606 | C | T |
c.82526G>A
|
p.Arg27509Gln
|
2.5 |
|
B | ||
| 21595 | chr2 | 178563634 | C | T |
c.82498G>A
|
p.Glu27500Lys
|
3.0 |
|
B | ||
| 18061 | chr2 | 178563646 | C | T |
c.82486G>A
|
p.Asp27496Asn
|
2.0 |
|
B | ||
| 25041 | chr2 | 178563768 | G | A |
c.82364C>T
|
p.Pro27455Leu
|
- | 3.0 |
|
B | |
| 33436 | chr2 | 178563805 | G | A |
c.82327C>T
|
p.Arg27443Cys
|
3.0 |
|
B | ||
| 24862 | chr2 | 178563808 | A | C |
c.82324T>G
|
p.Phe27442Val
|
- | 3.0 |
|
B | |
| 8324 | chr2 | 178563874 | C | T |
c.82258G>A
|
p.Val27420Ile
|
- | 3.0 |
|
B | |
| 25753 | chr2 | 178563910 | C | T |
c.82222G>A
|
p.Glu27408Lys
|
- | 3.0 |
|
B | |
| 16033 | chr2 | 178564111 | G | A |
c.82021C>T
|
p.Arg27341Trp
|
3.0 |
|
B | ||
| 26488 | chr2 | 178564459 | C | T |
c.81673G>A
|
p.Val27225Ile
|
3.0 |
|
B |