Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32213 | chr3 | 185428759 | G | A |
c.178G>A
|
p.Val60Met
|
3.0 |
|
B | ||
| 17666 | chr3 | 185428771 | G | A |
c.190G>A
|
p.Val64Ile
|
3.0 |
|
B | ||
| 28988 | chr3 | 185428852 | G | C |
c.271G>C
|
p.Asp91His
|
- | 3.0 |
|
B | |
| 27406 | chr3 | 185428892 | C | T |
c.311C>T
|
p.Thr104Met
|
3.0 |
|
B | ||
| 22693 | chr3 | 185428900 | G | C |
c.319G>C
|
p.Gly107Arg
|
- | 3.0 |
|
B | |
| 32742 | chr3 | 185437477 | C | T |
c.506C>T
|
p.Ser169Leu
|
- | 3.0 |
|
B | |
| 10603 | chr3 | 185437533 | C | T |
c.562C>T
|
p.Arg188Trp
|
- | 3.0 |
|
B | |
| 26072 | chr3 | 185437631 | G | C |
c.659+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 9490 | chr3 | 185443462 | C | T |
c.677C>T
|
p.Ala226Val
|
- | 3.0 |
|
B | |
| 34170 | chr3 | 185443557 | G | T |
c.772G>T
|
p.Asp258Tyr
|
3.0 |
|
B | ||
| 11095 | chr3 | 185449996 | C | G |
c.1107C>G
|
p.Ser369Arg
|
3.0 |
|
B | ||
| 29884 | chr3 | 185450063 | G | T |
c.1169+5G>T
|
-
|
- | 3.0 |
|
B | |
| 13992 | chr3 | 185451278 | C | T |
c.1170-9C>T
|
-
|
- | 3.0 |
|
B | |
| 19158 | chr3 | 185451307 | G | A |
c.1190G>A
|
p.Arg397Gln
|
3.0 |
|
B | ||
| 29885 | chr3 | 185451403 | G | A |
c.1278+8G>A
|
-
|
3.0 |
|
B | ||
| 4900 | chr3 | 185463545 | C | T |
c.1279-5C>T
|
-
|
- | 3.0 |
|
B | |
| 737 | chr3 | 185463637 | C | T |
c.1366C>T
|
p.Arg456Ter
|
3.0 |
|
B | ||
| 15133 | chr3 | 185465797 | A | G |
c.1439A>G
|
p.Asn480Ser
|
- | 3.0 |
|
B | |
| 15084 | chr3 | 185466968 | G | A |
c.1643+5G>A
|
-
|
- | 3.0 |
|
B | |
| 28744 | chr3 | 185473103 | G | A |
c.1772G>A
|
p.Arg591His
|
3.0 |
|
B |