Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25372 | chr7 | 138894506 | G | A |
c.3868C>T
|
p.Pro1290Ser
|
- | 3.0 |
|
B | |
| 22745 | chr7 | 138903576 | G | A |
c.3669+12C>T
|
-
|
- | 3.0 |
|
B | |
| 33814 | chr7 | 138907002 | G | A |
c.3377C>T
|
p.Ser1126Leu
|
3.0 |
|
B | ||
| 33181 | chr7 | 138911265 | G | A |
c.3026C>T
|
p.Thr1009Met
|
3.0 |
|
B | ||
| 21034 | chr7 | 138911300 | G | T |
c.2991C>A
|
p.Phe997Leu
|
3.0 |
|
B | ||
| 17788 | chr7 | 138911317 | C | T |
c.2974G>A
|
p.Glu992Lys
|
3.0 |
|
B | ||
| 27117 | chr7 | 138916841 | G | A |
c.2785C>T
|
p.Leu929Phe
|
- | 3.0 |
|
B | |
| 22333 | chr7 | 138917134 | G | A |
c.2492C>T
|
p.Ala831Val
|
3.0 |
|
B | ||
| 18583 | chr7 | 138917273 | G | A |
c.2353C>T
|
p.Gln785Ter
|
- | 3.0 |
|
B | |
| 30695 | chr7 | 138917333 | C | T |
c.2293G>A
|
p.Ala765Thr
|
3.0 |
|
B | ||
| 24696 | chr7 | 138917348 | T | G |
c.2278A>C
|
p.Ile760Leu
|
- | 3.0 |
|
B | |
| 21620 | chr7 | 138917378 | C | T |
c.2248G>A
|
p.Glu750Lys
|
- | 3.0 |
|
B | |
| 14601 | chr7 | 138917449 | G | C |
c.2177C>G
|
p.Ser726Cys
|
- | 3.0 |
|
B | |
| 18584 | chr7 | 138917545 | G | C |
c.2081C>G
|
p.Ser694Trp
|
- | 3.0 |
|
B | |
| 22532 | chr7 | 138917597 | C | A |
c.2029G>T
|
p.Asp677Tyr
|
- | 3.0 |
|
B | |
| 14718 | chr7 | 138917701 | G | A |
c.1925C>T
|
p.Ser642Leu
|
2.0 |
|
B | ||
| 33728 | chr7 | 138917803 | C | T |
c.1823G>A
|
p.Arg608His
|
3.0 |
|
B | ||
| 30435 | chr7 | 138917901 | GT | G |
c.1724del
|
p.Asn575ThrfsTer76
|
- | 3.0 |
|
B | |
| 33906 | chr7 | 138918049 | C | A |
c.1577G>T
|
p.Gly526Val
|
- | 3.0 |
|
B | |
| 26873 | chr7 | 138918103 | G | T |
c.1523C>A
|
p.Ser508Tyr
|
- | 3.0 |
|
B |