Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8352 | chr11 | 119285402 | C | T |
c.1777C>T
|
p.Arg593Trp
|
2.0 |
|
B | ||
| 4574 | chr11 | 119287944 | C | T |
c.2034C>T
|
p.Ala678=
|
3.0 |
|
B | ||
| 21530 | chr11 | 119297437 | A | T |
c.2207A>T
|
p.Asn736Ile
|
- | 3.0 |
|
B | |
| 19087 | chr11 | 119298349 | T | C |
c.2252-9T>C
|
-
|
- | 3.0 |
|
B | |
| 26002 | chr11 | 119298420 | G | T |
c.2314G>T
|
p.Asp772Tyr
|
- | 3.0 |
|
B | |
| 29021 | chr11 | 119298558 | T | G |
c.2434+18T>G
|
-
|
3.0 |
|
B | ||
| 30631 | chr11 | 119299558 | C | T |
c.2498C>T
|
p.Ser833Phe
|
- | 3.0 |
|
B | |
| 30319 | chr11 | 119299637 | T | G |
c.2577T>G
|
p.Ser859Arg
|
- | 3.5 |
|
B | |
| 17331 | chr11 | 119299716 | G | A |
c.2656G>A
|
p.Glu886Lys
|
3.0 |
|
B | ||
| 26888 | chr11 | 119299722 | G | A |
c.2662G>A
|
p.Ala888Thr
|
- | 3.0 |
|
B | |
| 14160 | chr11 | 120337263 | C | A |
c.20C>A
-
|
p.Thr7Asn
-
|
- | 3.0 |
|
B | |
| 20682 | chr11 | 120424377 | C | G |
c.368C>G
|
p.Thr123Ser
|
- | 3.0 |
|
B | |
| 16108 | chr11 | 120431837 | G | T |
c.850G>T
|
p.Asp284Tyr
|
3.0 |
|
B | ||
| 26515 | chr11 | 120437307 | G | A |
c.925-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 30191 | chr11 | 120446441 | C | T |
c.1384C>T
|
p.Arg462Cys
|
3.0 |
|
B | ||
| 14758 | chr11 | 120446955 | C | T |
c.1459C>T
|
p.Arg487Cys
|
3.0 |
|
B | ||
| 19712 | chr11 | 120447918 | GT | G |
c.1622+20del
|
-
|
3.0 |
|
B | ||
| 30366 | chr11 | 120448355 | A | C |
c.1737+7A>C
|
-
|
1.0 |
|
B | ||
| 16640 | chr11 | 120451565 | C | T |
c.1897C>T
|
p.Pro633Ser
|
- | 3.0 |
|
B | |
| 24789 | chr11 | 120451586 | C | G |
c.1918C>G
|
p.Pro640Ala
|
- | 3.0 |
|
B |