Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24450 | chr7 | 102248570 | G | A |
c.4046G>A
|
p.Ser1349Asn
|
- | 3.0 |
|
B | |
| 33259 | chr7 | 102248642 | C | T |
c.4118C>T
|
p.Thr1373Met
|
3.0 |
|
B | ||
| 22619 | chr7 | 102248695 | C | T |
c.4171C>T
|
p.His1391Tyr
|
- | 3.0 |
|
B | |
| 31865 | chr7 | 102248869 | GC | G |
c.4351del
|
p.Arg1451AlafsTer34
|
- | 4.0 |
|
B | |
| 15582 | chr7 | 102248895 | G | T |
c.4371G>T
|
p.Gln1457His
|
- | 3.0 |
|
B | |
| 17101 | chr7 | 102248968 | G | A |
c.4444G>A
|
p.Ala1482Thr
|
- | 3.0 |
|
B | |
| 6992 | chr7 | 102275348 | G | A |
c.1552G>A
|
p.Glu518Lys
|
3.0 |
|
B | ||
| 2831 | chr7 | 102275359 | C | T |
c.1563C>T
|
p.Ala521=
|
3.5 |
|
B | ||
| 20031 | chr7 | 102277938 | TC | T |
c.1564-3del
|
-
|
3.0 |
|
B | ||
| 11276 | chr7 | 102277959 | T | A |
c.1574T>A
|
p.Leu525Gln
|
- | 3.0 |
|
B | |
| 19169 | chr7 | 102280021 | C | T |
c.1681-16C>T
|
-
|
3.0 |
|
B | ||
| 8877 | chr7 | 102280065 | G | A |
c.1709G>A
|
p.Arg570Gln
|
3.0 |
|
B | ||
| 19489 | chr7 | 102280796 | C | T |
c.1765-8C>T
|
-
|
- | 3.0 |
|
B | |
| 28904 | chr7 | 102280852 | C | T |
c.1813C>T
|
p.Leu605Phe
|
- | 3.0 |
|
B | |
| 15043 | chr7 | 102281924 | A | AATGTGCCTCTGGCCCGCCC |
-
|
-
|
- | 3.0 |
|
B | |
| 34598 | chr7 | 102281925 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 18116 | chr7 | 102282796 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 3660 | chr7 | 105109228 | G | A |
c.3755G>A
|
p.Trp1252Ter
|
- | 3.0 |
|
B | |
| 20342 | chr7 | 105532339 | C | T |
c.24C>T
|
p.Gly8=
|
2.0 |
|
B | ||
| 19002 | chr7 | 105548578 | G | T |
c.864G>T
|
p.Lys288Asn
|
- | 3.0 |
|
B |