Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23285 | chr7 | 75554485 | C | T |
c.2005G>A
|
p.Glu669Lys
|
3.0 |
|
B | ||
| 16748 | chr7 | 75555479 | C | T |
c.1900G>A
|
p.Val634Met
|
- | 3.0 |
|
B | |
| 17610 | chr7 | 75556008 | T | C |
c.1827+18A>G
|
-
|
- | 3.0 |
|
B | |
| 17611 | chr7 | 75556011 | A | C |
c.1827+15T>G
|
-
|
- | 3.0 |
|
B | |
| 24059 | chr7 | 75556753 | C | G |
c.1640G>C
|
p.Arg547Pro
|
- | 3.0 |
|
B | |
| 24932 | chr7 | 75556772 | C | A |
c.1621G>T
|
p.Glu541Ter
|
- | 3.0 |
|
B | |
| 25458 | chr7 | 75557642 | C | T |
c.1581+12G>A
|
-
|
3.0 |
|
B | ||
| 23892 | chr7 | 75559801 | C | A |
c.1306G>T
|
p.Glu436Ter
|
- | 3.0 |
|
B | |
| 17925 | chr7 | 75563024 | C | A |
c.931G>T
|
p.Val311Leu
|
- | 3.0 |
|
B | |
| 12729 | chr7 | 75586852 | G | A |
c.385-19C>T
|
-
|
3.0 |
|
B | ||
| 34901 | chr7 | 76054968 | A | C |
c.205A>C
|
p.Ser69Arg
|
- | 3.0 |
|
B | |
| 9900 | chr7 | 76063514 | G | T |
c.556-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 27319 | chr7 | 76064916 | C | T |
c.848C>T
|
p.Thr283Met
|
3.0 |
|
B | ||
| 15125 | chr7 | 76066393 | G | A |
c.1000G>A
|
p.Val334Met
|
3.0 |
|
B | ||
| 22992 | chr7 | 77537591 | G | T |
c.45G>T
|
p.Gln15His
|
- | 3.0 |
|
B | |
| 15581 | chr7 | 77571088 | G | C |
c.110G>C
|
p.Arg37Thr
|
- | 3.0 |
|
B | |
| 22553 | chr7 | 77581462 | C | T |
c.244C>T
|
p.Pro82Ser
|
- | 3.0 |
|
B | |
| 9555 | chr7 | 77585545 | C | A |
c.384C>A
|
p.Ile128=
|
- | 3.0 |
|
B | |
| 13556 | chr7 | 77592164 | AT | A |
c.421-10del
|
-
|
3.0 |
|
B | ||
| 19484 | chr7 | 77592164 | ATT | A |
c.421-11_421-10del
|
-
|
3.0 |
|
B |