Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10966 | chr3 | 48590581 | G | A |
c.1784C>T
|
p.Pro595Leu
|
1.0 |
|
B | ||
| 30144 | chr3 | 48590778 | C | T |
c.1675G>A
|
p.Ala559Thr
|
- | 3.0 |
|
B | |
| 13985 | chr3 | 48591909 | C | T |
c.1346G>A
|
p.Arg449Gln
|
3.0 |
|
B | ||
| 10720 | chr3 | 48591916 | C | T |
c.1339G>A
|
p.Glu447Lys
|
- | 3.0 |
|
B | |
| 24191 | chr3 | 48592878 | A | C |
c.743T>G
|
p.Leu248Trp
|
- | 3.0 |
|
B | |
| 10808 | chr3 | 48593102 | G | A |
c.682C>T
|
p.Pro228Ser
|
3.0 |
|
B | ||
| 8007 | chr3 | 48593192 | CGAA | C |
c.589_591del
|
p.Phe197del
|
3.0 |
|
B | ||
| 24877 | chr3 | 48593403 | G | C |
c.473C>G
|
p.Thr158Arg
|
- | 3.0 |
|
B | |
| 19264 | chr3 | 48593608 | T | G |
c.355A>C
|
p.Thr119Pro
|
- | 3.0 |
|
B | |
| 28630 | chr3 | 48593610 | C | T |
c.353G>A
|
p.Arg118His
|
3.0 |
|
B | ||
| 27928 | chr3 | 48595066 | G | T |
c.85+9C>A
-
|
-
-
|
2.0 |
|
B | ||
| 15172 | chr3 | 48595121 | C | T |
c.39G>A
-
|
p.Gly13=
-
|
- | 3.0 |
|
B | |
| 3386 | chr3 | 48644777 | C | T |
c.8024G>A
|
p.Trp2675Ter
|
- | 3.0 |
|
B | |
| 3567 | chr3 | 48661187 | G | C |
c.1448C>G
|
p.Ala483Gly
|
- | 3.0 |
|
B | |
| 3568 | chr3 | 48661194 | CA | C |
c.1440del
|
p.Ala481GlnfsTer53
|
- | 3.0 |
|
B | |
| 3569 | chr3 | 48661201 | C | CT |
c.1433_1434insA
|
p.Arg479AlafsTer11
|
- | 3.0 |
|
B | |
| 25712 | chr3 | 48674752 | G | T |
c.1966-5C>A
|
-
|
- | 3.0 |
|
B | |
| 34097 | chr3 | 48678909 | GAGA | G |
c.1757_1759del
|
p.Phe586del
|
3.0 |
|
B | ||
| 23041 | chr3 | 48679601 | G | A |
c.1463C>T
|
p.Ala488Val
|
3.0 |
|
B | ||
| 35198 | chr3 | 48680140 | G | A |
c.1182C>T
|
p.Asp394=
|
3.0 |
|
B |