Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6526 | chr19 | 45364259 | T | A |
c.791A>T
|
p.Glu264Val
|
- | 3.0 |
|
B | |
| 448 | chr19 | 45364429 | T | C |
c.713A>G
|
p.Asn238Ser
|
- | 4.0 |
|
S | |
| 28258 | chr19 | 45364466 | C | T |
c.676G>A
|
p.Ala226Thr
|
3.0 |
|
B | ||
| 7158 | chr19 | 45364548 | C | G |
c.595-1G>C
|
p.?
|
4.0 |
|
B | ||
| 11498 | chr19 | 45364918 | C | T |
c.514G>A
|
p.Ala172Thr
|
3.0 |
|
B | ||
| 8663 | chr19 | 45364935 | C | A |
c.497G>T
|
p.Arg166Leu
|
3.0 |
|
B | ||
| 6768 | chr19 | 45364958 | G | A |
c.478-4C>T
|
-
|
- | 3.0 |
|
B | |
| 21463 | chr19 | 45368638 | G | A |
c.352C>T
|
p.His118Tyr
|
- | 3.0 |
|
B | |
| 19031 | chr19 | 45368648 | G | GT |
c.341dup
|
p.Asn114LysfsTer7
|
- | 4.0 |
|
B | |
| 6874 | chr19 | 45368701 | G | A |
c.289C>T
|
p.Gln97Ter
|
- | 4.5 |
|
B | |
| 20672 | chr19 | 45368952 | C | T |
c.224G>A
|
p.Arg75Lys
|
- | 3.0 |
|
B | |
| 5890 | chr19 | 45368998 | G | A |
c.184-6C>T
|
-
|
3.0 |
|
B | ||
| 20673 | chr19 | 45369063 | C | T |
c.183+7G>A
|
-
|
- | 3.0 |
|
B | |
| 34930 | chr19 | 45369116 | G | C |
c.137C>G
|
p.Thr46Ser
|
- | 3.5 |
|
B | |
| 3862 | chr19 | 45369122 | G | A |
c.131C>T
|
p.Ser44Leu
|
- | 3.0 |
|
B | |
| 3895 | chr19 | 45369122 | G | C |
c.131C>G
|
p.Ser44Ter
|
- | 4.0 |
|
B | |
| 14800 | chr19 | 45370227 | T | C |
c.11A>G
|
p.Asn4Ser
|
- | 3.0 |
|
B | |
| 9447 | chr19 | 45370245 | G | A |
c.6-13C>T
|
-
|
2.0 |
|
B | ||
| 25726 | chr19 | 45370517 | C | A |
c.5+19G>T
|
-
|
- | 3.0 |
|
B | |
| 6814 | chr19 | 45370538 | C | A |
c.3G>T
|
p.Met1?
|
- | 4.0 |
|
B |