Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33308 | chr3 | 38603950 | G | A |
c.1652C>T
|
p.Ala551Val
|
3.0 |
|
B | ||
| 22281 | chr3 | 38604080 | G | A |
c.1522C>T
|
p.His508Tyr
|
3.0 |
|
B | ||
| 20727 | chr3 | 38604088 | G | C |
c.1519-5C>G
|
-
|
- | 3.0 |
|
B | |
| 21804 | chr3 | 38604088 | G | T |
c.1519-5C>A
|
-
|
- | 3.0 |
|
B | |
| 16586 | chr3 | 38604718 | G | A |
c.1518+11C>T
|
-
|
- | 3.0 |
|
B | |
| 17244 | chr3 | 38604743 | C | T |
c.1504G>A
|
p.Gly502Ser
|
- | 3.0 |
|
B | |
| 17246 | chr3 | 38604916 | A | G |
c.1339-8T>C
|
-
|
2.0 |
|
B | ||
| 28262 | chr3 | 38604928 | C | T |
c.1339-20G>A
|
-
|
2.0 |
|
B | ||
| 34746 | chr3 | 38606047 | C | T |
c.1242G>A
|
p.Met414Ile
|
- | 3.0 |
|
B | |
| 31514 | chr3 | 38606052 | C | T |
c.1237G>A
|
p.Ala413Thr
|
3.0 |
|
B | ||
| 27792 | chr3 | 38606058 | C | T |
c.1231G>A
|
p.Val411Met
|
3.0 |
|
B | ||
| 29523 | chr3 | 38606076 | C | T |
c.1213G>A
|
p.Val405Met
|
- | 3.0 |
|
B | |
| 34128 | chr3 | 38606700 | G | A |
c.1109C>T
|
p.Thr370Met
|
3.0 |
|
B | ||
| 13374 | chr3 | 38606773 | C | T |
c.1036G>A
|
p.Glu346Lys
|
3.0 |
|
B | ||
| 26677 | chr3 | 38606790 | C | T |
c.1019G>A
|
p.Arg340Gln
|
2.5 |
|
B | ||
| 24092 | chr3 | 38608158 | C | T |
c.991G>A
|
p.Asp331Asn
|
- | 3.0 |
|
B | |
| 30478 | chr3 | 38609720 | G | A |
c.934+14C>T
|
-
|
- | 3.0 |
|
B | |
| 27045 | chr3 | 38609824 | G | A |
c.844C>T
|
p.Arg282Cys
|
3.5 |
|
B | ||
| 23040 | chr3 | 38609827 | C | T |
c.841G>A
|
p.Val281Met
|
3.0 |
|
B | ||
| 18674 | chr3 | 38609847 | C | T |
c.821G>A
|
p.Gly274Asp
|
- | 3.0 |
|
B |