Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33768 | chr7 | 98931412 | A | T |
c.3599A>T
|
p.Asn1200Ile
|
- | 3.0 |
|
B | |
| 15398 | chr7 | 98935560 | A | T |
c.4015-19A>T
|
-
|
- | 3.0 |
|
B | |
| 29976 | chr7 | 98935651 | G | C |
c.4087G>C
|
p.Val1363Leu
|
3.0 |
|
B | ||
| 11954 | chr7 | 98935661 | GAATTGCGGCATTA | G |
c.4099_4111del
|
p.Ile1367MetfsTer24
|
- | 3.0 |
|
B | |
| 8026 | chr7 | 98937155 | G | A |
c.4112-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 12522 | chr7 | 98937249 | A | C |
c.4205A>C
|
p.Gln1402Pro
|
- | 3.0 |
|
B | |
| 11882 | chr7 | 98937281 | AGTGT | A |
c.4233+10_4233+13del
|
-
|
- | 3.0 |
|
B | |
| 6467 | chr7 | 98937656 | G | A |
c.4240G>A
|
p.Glu1414Lys
|
3.0 |
|
B | ||
| 6417 | chr7 | 98943012 | G | A |
c.4468G>A
|
p.Gly1490Arg
|
3.0 |
|
B | ||
| 28090 | chr7 | 98945801 | G | A |
c.4527+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 21077 | chr7 | 98945965 | G | A |
c.4548+15G>A
|
-
|
3.0 |
|
B | ||
| 33962 | chr7 | 98948230 | A | T |
c.4558A>T
|
p.Ile1520Phe
|
- | 3.0 |
|
B | |
| 7112 | chr7 | 98948287 | G | T |
c.4615G>T
|
p.Val1539Leu
|
- | 3.0 |
|
B | |
| 733 | chr7 | 98948324 | G | A |
c.4652G>A
|
p.Arg1551Gln
|
3.0 |
|
B | ||
| 4322 | chr7 | 98948346 | G | A |
c.4668+6G>A
|
-
|
- | 3.0 |
|
B | |
| 22884 | chr7 | 98948587 | C | T |
c.4690C>T
|
p.Pro1564Ser
|
- | 3.0 |
|
B | |
| 5700 | chr7 | 98949498 | C | A |
c.4870C>A
|
p.Pro1624Thr
|
- | 3.0 |
|
B | |
| 33890 | chr7 | 98949517 | C | A |
c.4889C>A
|
p.Ala1630Asp
|
- | 3.0 |
|
B | |
| 28271 | chr7 | 98949535 | C | T |
c.4907C>T
|
p.Pro1636Leu
|
- | 3.0 |
|
B | |
| 7372 | chr7 | 98949589 | C | T |
c.4953+8C>T
|
-
|
2.5 |
|
B |