Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30986 | chr7 | 20159381 | T | C |
c.980A>G
|
p.Tyr327Cys
|
3.0 |
|
B | ||
| 20336 | chr7 | 20159400 | TA | T |
c.960del
|
p.Phe320LeufsTer4
|
- | 3.0 |
|
B | |
| 17517 | chr7 | 20159805 | G | A |
c.556C>T
|
p.Arg186Cys
|
3.0 |
|
B | ||
| 31008 | chr7 | 20159810 | C | T |
c.551G>A
|
p.Ser184Asn
|
3.0 |
|
B | ||
| 23050 | chr7 | 20159898 | G | A |
c.463C>T
|
p.Gln155Ter
|
3.0 |
|
B | ||
| 32899 | chr7 | 20160002 | A | C |
c.359T>G
|
p.Leu120Arg
|
- | 3.0 |
|
B | |
| 25095 | chr7 | 20160063 | G | T |
c.298C>A
|
p.Pro100Thr
|
3.0 |
|
B | ||
| 20744 | chr7 | 20160114 | G | A |
c.247C>T
|
p.Gln83Ter
|
- | 3.0 |
|
B | |
| 16363 | chr7 | 20161781 | C | T |
c.82G>A
|
p.Ala28Thr
|
- | 3.0 |
|
B | |
| 20959 | chr7 | 20623289 | G | A |
c.4G>A
|
p.Glu2Lys
|
- | 3.0 |
|
B | |
| 31801 | chr7 | 20623347 | T | C |
c.53+9T>C
|
-
|
- | 3.0 |
|
B | |
| 31768 | chr7 | 20628683 | C | G |
c.109-5C>G
|
-
|
- | 3.0 |
|
B | |
| 25997 | chr7 | 20632048 | C | A |
c.260-11C>A
|
-
|
3.0 |
|
B | ||
| 34717 | chr7 | 20632083 | C | A |
c.284C>A
|
p.Ser95Tyr
|
- | 3.0 |
|
B | |
| 27824 | chr7 | 20632130 | C | T |
c.314+17C>T
|
-
|
3.0 |
|
B | ||
| 23862 | chr7 | 20643221 | T | A |
c.352T>A
|
p.Leu118Met
|
- | 3.0 |
|
B | |
| 22326 | chr7 | 20643253 | G | A |
c.384G>A
|
p.Trp128Ter
|
- | 3.0 |
|
B | |
| 15142 | chr7 | 20643366 | G | A |
c.497G>A
|
p.Arg166His
|
2.5 |
|
B | ||
| 27811 | chr7 | 20643443 | T | C |
c.507-18T>C
|
-
|
- | 3.0 |
|
B | |
| 17299 | chr7 | 20643532 | C | T |
c.578C>T
|
p.Ser193Leu
|
3.0 |
|
B |