Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3950 | chr7 | 87545961 | C | T |
c.1789G>A
|
p.Val597Ile
|
3.0 |
|
B | ||
| 21861 | chr7 | 87545962 | G | T |
c.1788C>A
|
p.Asp596Glu
|
- | 3.0 |
|
B | |
| 2905 | chr7 | 87545987 | C | T |
c.1763G>A
|
p.Arg588His
|
3.0 |
|
B | ||
| 21312 | chr7 | 87549429 | G | GT |
c.1643dup
|
p.Asn548LysfsTer9
|
- | 3.0 |
|
B | |
| 9697 | chr7 | 87549460 | C | T |
c.1613G>A
|
p.Arg538Lys
|
- | 3.0 |
|
B | |
| 32109 | chr7 | 87549470 | G | A |
c.1603C>T
|
p.Gln535Ter
|
- | 3.0 |
|
B | |
| 6991 | chr7 | 87549861 | T | A |
c.1544A>T
|
p.Lys515Ile
|
- | 3.0 |
|
B | |
| 24779 | chr7 | 87549916 | T | C |
c.1489A>G
|
p.Met497Val
|
3.0 |
|
B | ||
| 23742 | chr7 | 87549975 | G | A |
c.1430C>T
|
p.Pro477Leu
|
- | 3.0 |
|
B | |
| 9923 | chr7 | 87550006 | G | A |
c.1399C>T
|
p.Arg467Trp
|
3.0 |
|
B | ||
| 20339 | chr7 | 87550313 | GA | G |
c.1225-18del
|
-
|
- | 3.0 |
|
B | |
| 27146 | chr7 | 87550524 | C | T |
c.1168G>A
|
p.Gly390Arg
|
- | 3.0 |
|
B | |
| 10709 | chr7 | 87550525 | C | G |
c.1167G>C
|
p.Lys389Asn
|
- | 3.0 |
|
B | |
| 9945 | chr7 | 87550718 | G | C |
c.1113+7C>G
|
-
|
- | 3.0 |
|
B | |
| 33548 | chr7 | 87553782 | A | T |
c.978T>A
|
p.Tyr326Ter
|
- | 3.0 |
|
B | |
| 7758 | chr7 | 87553874 | T | A |
c.886A>T
|
p.Asn296Tyr
|
- | 3.0 |
|
B | |
| 33812 | chr7 | 87566893 | C | A |
c.422G>T
|
p.Gly141Val
|
3.0 |
|
B | ||
| 29441 | chr7 | 87585504 | A | G |
c.286+8T>C
|
-
|
- | 3.0 |
|
B | |
| 25503 | chr7 | 87585676 | C | T |
c.122G>A
|
p.Arg41His
|
3.0 |
|
B | ||
| 33206 | chr7 | 87628914 | G | C |
c.91G>C
|
p.Val31Leu
|
- | 3.0 |
|
B |