Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12448 | chr4 | 55101898 | T | A |
c.2265A>T
|
p.Glu755Asp
|
- | 3.0 |
|
B | |
| 26424 | chr4 | 55101936 | G | A |
c.2227C>T
|
p.Leu743Phe
|
- | 3.0 |
|
B | |
| 25258 | chr4 | 55102042 | A | G |
c.2135-14T>C
|
-
|
- | 3.0 |
|
B | |
| 32350 | chr4 | 55102430 | G | A |
c.2066C>T
|
p.Thr689Met
|
2.0 |
|
B | ||
| 16714 | chr4 | 55102448 | C | T |
c.2048G>A
|
p.Ser683Asn
|
- | 3.0 |
|
B | |
| 7352 | chr4 | 55102466 | G | A |
c.2030C>T
|
p.Thr677Met
|
3.0 |
|
B | ||
| 35071 | chr4 | 55102490 | A | G |
c.2006T>C
|
p.Ile669Thr
|
- | 3.0 |
|
B | |
| 24687 | chr4 | 55104638 | C | A |
c.1987+5G>T
|
-
|
- | 3.0 |
|
B | |
| 2355 | chr4 | 55104648 | A | T |
c.1982T>A
|
p.Val661Asp
|
- | 3.0 |
|
B | |
| 20863 | chr4 | 55104694 | C | A |
c.1936G>T
|
p.Asp646Tyr
|
- | 3.0 |
|
B | |
| 10192 | chr4 | 55104694 | C | T |
c.1936G>A
|
p.Asp646Asn
|
- | 3.0 |
|
B | |
| 3918 | chr4 | 55104763 | C | T |
c.1867G>A
|
p.Asp623Asn
|
3.0 |
|
B | ||
| 10391 | chr4 | 55104918 | C | A |
c.1712G>T
|
p.Cys571Phe
|
- | 3.0 |
|
B | |
| 29153 | chr4 | 55105847 | A | T |
c.1630T>A
|
p.Ser544Thr
|
- | 3.0 |
|
B | |
| 2356 | chr4 | 55105872 | T | G |
c.1605A>C
|
p.Lys535Asn
|
- | 3.0 |
|
B | |
| 29275 | chr4 | 55105915 | G | A |
c.1562C>T
|
p.Ala521Val
|
3.0 |
|
B | ||
| 13867 | chr4 | 55105922 | T | G |
c.1555A>C
|
p.Ile519Leu
|
- | 3.0 |
|
B | |
| 7595 | chr4 | 55105947 | G | A |
c.1537-7C>T
|
-
|
3.0 |
|
B | ||
| 30533 | chr4 | 55106716 | G | A |
c.1507C>T
|
p.Gln503Ter
|
- | 3.0 |
|
B | |
| 23745 | chr4 | 55106742 | C | T |
c.1481G>A
|
p.Gly494Glu
|
- | 3.0 |
|
B |