Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12910 | chr7 | 74056660 | G | A |
c.1316-12G>A
|
-
|
2.0 |
|
B | ||
| 18987 | chr7 | 74059933 | G | C |
c.1462G>C
|
p.Gly488Arg
|
- | 3.0 |
|
B | |
| 29404 | chr7 | 74059993 | G | C |
c.1522G>C
|
p.Gly508Arg
|
- | 3.0 |
|
B | |
| 17786 | chr7 | 74060002 | C | T |
c.1531C>T
|
p.Pro511Ser
|
3.0 |
|
B | ||
| 30834 | chr7 | 74060018 | C | T |
c.1547C>T
|
p.Ala516Val
|
3.0 |
|
B | ||
| 15135 | chr7 | 74060052 | GT | G |
c.1576+8del
|
-
|
- | 3.0 |
|
B | |
| 13969 | chr7 | 74060568 | A | G |
c.1747+67A>G
|
-
|
- | 3.0 |
|
B | |
| 15973 | chr7 | 74060593 | A | AC |
c.1747+95dup
|
-
|
- | 3.0 |
|
B | |
| 15974 | chr7 | 74060597 | A | G |
c.1747+96A>G
|
-
|
- | 3.0 |
|
B | |
| 33169 | chr7 | 74063198 | G | A |
c.1832G>A
|
p.Gly611Glu
|
- | 3.0 |
|
B | |
| 27116 | chr7 | 74063309 | G | A |
c.1859-1G>A
|
p.?
|
3.0 |
|
B | ||
| 23938 | chr7 | 74063606 | C | T |
c.1919-15C>T
|
-
|
3.0 |
|
B | ||
| 17828 | chr7 | 74063635 | G | C |
c.1933G>C
|
p.Ala645Pro
|
- | 3.0 |
|
B | |
| 26333 | chr7 | 74065926 | C | T |
c.2033-18C>T
|
-
|
3.0 |
|
B | ||
| 17029 | chr7 | 75538210 | G | A |
c.3076C>T
|
p.Pro1026Ser
|
- | 3.0 |
|
B | |
| 25966 | chr7 | 75542841 | G | A |
c.2890+10C>T
|
-
|
- | 3.0 |
|
B | |
| 31830 | chr7 | 75544799 | C | T |
c.2662G>A
|
p.Asp888Asn
|
3.0 |
|
B | ||
| 24997 | chr7 | 75553446 | C | T |
c.2295+7G>A
|
-
|
- | 3.0 |
|
B | |
| 22330 | chr7 | 75553483 | G | C |
c.2265C>G
|
p.Asn755Lys
|
- | 3.0 |
|
B | |
| 12319 | chr7 | 75553583 | G | A |
c.2165C>T
|
p.Thr722Ile
|
3.0 |
|
B |