Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20901 | chr7 | 151568822 | G | A |
c.1127C>T
|
p.Ser376Phe
|
- | 3.0 |
|
B | |
| 22563 | chr7 | 151570151 | G | GA |
c.1106+19dup
|
-
|
2.0 |
|
B | ||
| 12861 | chr7 | 151570151 | GA | G |
c.1106+19del
|
-
|
2.0 |
|
B | ||
| 23057 | chr7 | 151572665 | C | T |
c.1050G>A
|
p.Arg350=
|
- | 3.0 |
|
B | |
| 32462 | chr7 | 151595332 | G | A |
c.864+13C>T
|
-
|
2.0 |
|
B | ||
| 23058 | chr7 | 151595422 | G | A |
c.787C>T
|
p.Arg263Ter
|
3.0 |
|
B | ||
| 28386 | chr7 | 151675419 | C | A |
c.684+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 26334 | chr7 | 151675469 | G | A |
c.635C>T
|
p.Pro212Leu
|
2.5 |
|
B | ||
| 19497 | chr7 | 151675510 | C | CG |
c.593dup
|
p.Asp199GlyfsTer74
|
3.0 |
|
B | ||
| 18868 | chr7 | 151675511 | G | A |
c.593C>T
|
p.Pro198Leu
|
3.0 |
|
B | ||
| 15669 | chr7 | 151675577 | G | A |
c.527C>T
|
p.Pro176Leu
|
- | 3.0 |
|
B | |
| 24393 | chr7 | 151735927 | G | A |
c.466+45225C>T
|
-
|
3.0 |
|
B | ||
| 35049 | chr7 | 151735928 | C | A |
c.466+45224G>T
|
-
|
- | 3.0 |
|
B | |
| 18307 | chr7 | 151781278 | G | A |
c.340C>T
|
p.Pro114Ser
|
3.0 |
|
B | ||
| 17136 | chr7 | 151781364 | G | A |
c.254C>T
|
p.Pro85Leu
|
- | 3.0 |
|
B | |
| 21621 | chr7 | 151781410 | C | T |
c.208G>A
|
p.Gly70Ser
|
- | 3.0 |
|
B | |
| 32624 | chr7 | 151781448 | G | A |
c.187-17C>T
|
-
|
3.0 |
|
B | ||
| 18003 | chr7 | 152100863 | A | G |
c.361A>G
|
p.Met121Val
|
3.0 |
|
B | ||
| 25223 | chr7 | 152138800 | TCTC | T |
c.14636_14638del
|
p.Gly4879del
|
- | 3.0 |
|
B | |
| 24845 | chr7 | 152138819 | G | A |
c.14620C>T
|
p.Arg4874Trp
|
3.0 |
|
B |