Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21446 | chr2 | 120968903 | C | T |
c.833C>T
|
p.Ala278Val
|
3.0 |
|
B | ||
| 12152 | chr2 | 120968911 | C | T |
c.841C>T
|
p.Leu281Phe
|
- | 3.0 |
|
B | |
| 12661 | chr2 | 120971965 | G | A |
c.1084G>A
|
p.Val362Ile
|
3.0 |
|
B | ||
| 12799 | chr2 | 120972019 | G | A |
c.1138G>A
|
p.Glu380Lys
|
3.0 |
|
B | ||
| 14609 | chr2 | 120975011 | G | A |
c.1219G>A
|
p.Asp407Asn
|
- | 3.0 |
|
B | |
| 29237 | chr2 | 120978500 | C | T |
c.1384C>T
|
p.Arg462Trp
|
3.0 |
|
B | ||
| 22045 | chr2 | 120978512 | C | A |
c.1396C>A
|
p.Pro466Thr
|
3.0 |
|
B | ||
| 15538 | chr2 | 120982704 | G | A |
c.1468-12G>A
|
-
|
2.0 |
|
B | ||
| 1445 | chr2 | 120982744 | G | A |
c.1496G>A
|
p.Arg499His
|
3.0 |
|
B | ||
| 18055 | chr2 | 120982863 | C | T |
c.1615C>T
|
p.Arg539Cys
|
- | 3.0 |
|
B | |
| 10350 | chr2 | 120982878 | G | A |
c.1630G>A
|
p.Glu544Lys
|
3.0 |
|
B | ||
| 22832 | chr2 | 120984621 | G | A |
c.1783G>A
|
p.Glu595Lys
|
- | 3.0 |
|
B | |
| 6645 | chr2 | 120984672 | G | A |
c.1834G>A
|
p.Glu612Lys
|
3.0 |
|
B | ||
| 3929 | chr2 | 120984750 | G | A |
c.1905+7G>A
|
-
|
3.0 |
|
B | ||
| 24440 | chr2 | 120986267 | G | A |
c.1906-11G>A
|
-
|
2.0 |
|
B | ||
| 21947 | chr2 | 120986322 | G | T |
c.1950G>T
|
p.Glu650Asp
|
- | 3.0 |
|
B | |
| 25609 | chr2 | 120986380 | G | A |
c.2008G>A
|
p.Gly670Arg
|
3.0 |
|
B | ||
| 35672 | chr2 | 120986447 | T | A |
c.2075T>A
|
p.Leu692Gln
|
- | 3.0 |
|
B | |
| 14883 | chr2 | 120988333 | G | A |
c.2368G>A
|
p.Asp790Asn
|
- | 3.0 |
|
B | |
| 32514 | chr2 | 120988349 | C | T |
c.2384C>T
|
p.Thr795Met
|
3.0 |
|
B |