Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21301 | chr4 | 20488992 | A | G |
c.775+10A>G
|
-
|
- | 3.0 |
|
B | |
| 20806 | chr4 | 20490787 | C | T |
c.776-974C>T
|
-
|
3.0 |
|
B | ||
| 3011 | chr4 | 20490811 | G | A |
c.776-950G>A
|
-
|
3.0 |
|
B | ||
| 28898 | chr4 | 20491844 | C | T |
c.859C>T
|
p.Arg287Cys
|
3.0 |
|
B | ||
| 15343 | chr4 | 20491874 | A | G |
c.889A>G
|
p.Asn297Asp
|
- | 3.0 |
|
B | |
| 13077 | chr4 | 20491875 | A | C |
c.890A>C
|
p.Asn297Thr
|
- | 3.0 |
|
B | |
| 22550 | chr4 | 20491890 | TCAC | T |
c.906_908del
|
p.Thr303del
|
- | 3.0 |
|
B | |
| 1186 | chr4 | 20510544 | C | A |
c.964C>A
|
p.Pro322Thr
|
- | 3.0 |
|
B | |
| 35268 | chr4 | 20510562 | C | T |
c.982C>T
|
p.Arg328Ter
|
3.0 |
|
B | ||
| 18675 | chr4 | 20510578 | A | G |
c.986+12A>G
|
-
|
3.0 |
|
B | ||
| 25367 | chr4 | 20511115 | G | A |
c.1036G>A
|
p.Gly346Arg
|
- | 3.0 |
|
B | |
| 25368 | chr4 | 20511116 | G | A |
c.1037G>A
|
p.Gly346Glu
|
- | 3.0 |
|
B | |
| 21184 | chr4 | 20511153 | G | A |
c.1058+16G>A
|
-
|
- | 3.0 |
|
B | |
| 14747 | chr4 | 20519454 | G | A |
c.1130+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 5697 | chr4 | 20523809 | G | C |
c.1180G>C
|
p.Asp394His
|
- | 3.0 |
|
B | |
| 18880 | chr4 | 20523888 | G | A |
c.1259G>A
|
p.Arg420Gln
|
3.0 |
|
B | ||
| 5631 | chr4 | 20524120 | C | T |
c.1381C>T
|
p.Arg461Cys
|
- | 3.0 |
|
B | |
| 27222 | chr4 | 20524145 | G | A |
c.1406G>A
|
p.Gly469Glu
|
- | 3.0 |
|
B | |
| 31892 | chr4 | 20524177 | G | A |
c.1438G>A
|
p.Ala480Thr
|
- | 3.0 |
|
B | |
| 27315 | chr4 | 20525150 | T | C |
c.1440T>C
|
p.Ala480=
|
- | 3.0 |
|
B |