Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19984 | chr4 | 105236311 | A | G |
c.2369A>G
|
p.Gln790Arg
|
- | 3.0 |
|
B | |
| 10157 | chr4 | 105236329 | A | G |
c.2387A>G
|
p.Glu796Gly
|
- | 3.0 |
|
B | |
| 35512 | chr4 | 105236688 | C | T |
c.2746C>T
|
p.Gln916Ter
|
4.0 |
|
B | ||
| 14401 | chr4 | 105236881 | C | CACCTTTT |
c.2940_2941insCCTTTTA
|
p.Ile981ProfsTer4
|
- | 4.0 |
|
B | |
| 7145 | chr4 | 105236934 | C | G |
c.2992C>G
|
p.Pro998Ala
|
- | 3.0 |
|
B | |
| 19986 | chr4 | 105237029 | G | T |
c.3087G>T
|
p.Glu1029Asp
|
- | 3.0 |
|
B | |
| 9529 | chr4 | 105237256 | TAG | T |
c.3317_3318del
|
p.Glu1106ValfsTer23
|
- | 4.0 |
|
B | |
| 20923 | chr4 | 105240987 | GT | G |
c.3410-342del
|
-
|
3.0 |
|
B | ||
| 19987 | chr4 | 105241448 | CA | C |
c.3500+20del
|
-
|
- | 3.0 |
|
B | |
| 10869 | chr4 | 105242833 | G | A |
c.3501-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 7930 | chr4 | 105242844 | A | T |
c.3511A>T
|
p.Lys1171Ter
|
- | 4.0 |
|
B | |
| 30751 | chr4 | 105242869 | G | C |
c.3536G>C
|
p.Arg1179Thr
|
- | 3.0 |
|
B | |
| 3989 | chr4 | 105242904 | C | T |
c.3571C>T
|
p.Gln1191Ter
|
4.0 |
|
B | ||
| 29094 | chr4 | 105243551 | G | A |
c.3595-19G>A
|
-
|
3.0 |
|
B | ||
| 18293 | chr4 | 105243562 | C | T |
c.3595-8C>T
|
-
|
- | 3.0 |
|
B | |
| 10745 | chr4 | 105243703 | A | G |
c.3728A>G
|
p.Lys1243Arg
|
3.0 |
|
B | ||
| 27223 | chr4 | 105243723 | G | A |
c.3748G>A
|
p.Glu1250Lys
|
3.0 |
|
B | ||
| 33198 | chr4 | 105243756 | C | T |
c.3781C>T
|
p.Arg1261Cys
|
3.0 |
|
B | ||
| 4008 | chr4 | 105243783 | G | A |
c.3803+5G>A
|
-
|
3.5 |
|
B | ||
| 2112 | chr4 | 105259770 | G | A |
c.3954+1G>A
|
p.?
|
4.0 |
|
B |