Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27348 | chr7 | 98900732 | G | A |
c.897+12G>A
|
-
|
- | 3.0 |
|
B | |
| 11690 | chr7 | 98906181 | C | A |
c.1041C>A
|
p.Phe347Leu
|
- | 3.0 |
|
B | |
| 30360 | chr7 | 98908721 | C | T |
c.1116-7C>T
|
-
|
- | 3.0 |
|
B | |
| 10847 | chr7 | 98910109 | TAAG | T |
c.1408_1410del
|
p.Lys470del
|
- | 3.0 |
|
B | |
| 13882 | chr7 | 98910215 | C | T |
c.1510C>T
|
p.Pro504Ser
|
- | 3.0 |
|
B | |
| 9666 | chr7 | 98910359 | A | C |
c.1654A>C
|
p.Thr552Pro
|
- | 3.0 |
|
B | |
| 18895 | chr7 | 98910493 | T | C |
c.1715-17T>C
|
-
|
- | 3.0 |
|
B | |
| 9452 | chr7 | 98910548 | G | A |
c.1753G>A
|
p.Glu585Lys
|
- | 3.0 |
|
B | |
| 17577 | chr7 | 98911065 | C | T |
c.1813-12C>T
|
-
|
- | 3.0 |
|
B | |
| 22743 | chr7 | 98911148 | G | C |
c.1884G>C
|
p.Glu628Asp
|
- | 3.0 |
|
B | |
| 8089 | chr7 | 98911186 | T | A |
c.1922T>A
|
p.Met641Lys
|
- | 3.0 |
|
B | |
| 33442 | chr7 | 98915804 | C | T |
c.2281C>T
|
p.Arg761Trp
|
- | 3.0 |
|
B | |
| 17044 | chr7 | 98915846 | T | G |
c.2323T>G
|
p.Leu775Val
|
- | 3.0 |
|
B | |
| 31842 | chr7 | 98917653 | C | T |
c.2596C>T
|
p.Gln866Ter
|
- | 3.0 |
|
B | |
| 1044 | chr7 | 98917684 | G | C |
c.2622+5G>C
|
-
|
- | 3.0 |
|
B | |
| 32717 | chr7 | 98921762 | C | T |
c.2632C>T
|
p.Arg878Cys
|
3.0 |
|
B | ||
| 12529 | chr7 | 98925251 | T | G |
c.2963T>G
|
p.Leu988Arg
|
- | 3.0 |
|
B | |
| 10184 | chr7 | 98930625 | C | T |
c.3394-8C>T
|
-
|
- | 3.0 |
|
B | |
| 21389 | chr7 | 98930627 | C | T |
c.3394-6C>T
|
-
|
- | 3.0 |
|
B | |
| 19196 | chr7 | 98930738 | C | G |
c.3499C>G
|
p.Leu1167Val
|
- | 3.0 |
|
B |