Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6132 | chr8 | 38281459 | A | T |
c.3618+8T>A
|
-
|
- | 3.0 |
|
B | |
| 10903 | chr8 | 38281499 | C | T |
c.3586G>A
|
p.Val1196Ile
|
3.0 |
|
B | ||
| 23843 | chr8 | 38304748 | A | C |
c.2450T>G
|
p.Met817Arg
|
- | 3.0 |
|
B | |
| 34397 | chr8 | 38314680 | C | G |
c.2209G>C
|
p.Asp737His
|
3.0 |
|
B | ||
| 5824 | chr8 | 38314742 | G | A |
c.2147C>T
|
p.Pro716Leu
|
3.0 |
|
B | ||
| 32303 | chr8 | 38329422 | T | C |
c.1537A>G
|
p.Thr513Ala
|
3.0 |
|
B | ||
| 34286 | chr8 | 38329437 | C | G |
c.1522G>C
|
p.Ala508Pro
|
- | 3.0 |
|
B | |
| 34287 | chr8 | 38329584 | C | T |
c.1375G>A
|
p.Glu459Lys
|
3.0 |
|
B | ||
| 5448 | chr8 | 38329635 | G | A |
c.1324C>T
|
p.Leu442Phe
|
3.0 |
|
B | ||
| 6892 | chr8 | 38329779 | A | T |
c.1180T>A
|
p.Tyr394Asn
|
- | 3.0 |
|
B | |
| 5843 | chr8 | 38337442 | G | A |
c.773C>T
|
p.Pro258Leu
|
3.0 |
|
B | ||
| 12178 | chr8 | 38347652 | C | T |
c.520G>A
|
p.Gly174Arg
|
- | 3.0 |
|
B | |
| 1919 | chr8 | 38347968 | T | G |
c.204A>C
|
p.Pro68=
|
- | 3.0 |
|
B | |
| 30330 | chr8 | 38412508 | C | T |
c.*1120G>A
-
|
-
-
|
3.0 |
|
B | ||
| 18915 | chr8 | 38412600 | G | GAAGAAA |
c.*1027_*1028insTTTCTT
-
|
-
-
|
- | 3.0 |
|
B | |
| 17305 | chr8 | 38412603 | G | A |
c.*1025C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 9425 | chr8 | 38413753 | C | T |
c.2344G>A
-
|
p.Asp782Asn
-
|
3.0 |
|
B | ||
| 11504 | chr8 | 38413992 | C | G |
c.2218G>C
-
|
p.Val740Leu
-
|
- | 3.0 |
|
B | |
| 12179 | chr8 | 38414762 | G | A |
c.1977+17C>T
|
-
|
- | 3.0 |
|
B | |
| 10939 | chr8 | 38414788 | C | G |
c.1968G>C
|
p.Lys656Asn
|
4.0 |
|
B |