Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5072 | chr7 | 142958327 | G | T |
c.502C>A
|
p.Pro168Thr
|
- | 3.0 |
|
B | |
| 22746 | chr7 | 142958360 | C | G |
c.469G>C
|
p.Asp157His
|
- | 3.0 |
|
B | |
| 9519 | chr7 | 142958416 | G | A |
c.413C>T
|
p.Ser138Phe
|
- | 3.0 |
|
B | |
| 2600 | chr7 | 142958428 | T | C |
c.401A>G
|
p.Glu134Gly
|
- | 3.0 |
|
B | |
| 27874 | chr7 | 142958429 | C | T |
c.401-1G>A
|
p.?
|
3.0 |
|
B | ||
| 34336 | chr7 | 142958432 | G | A |
c.401-4C>T
|
-
|
- | 3.0 |
|
B | |
| 8018 | chr7 | 142960931 | G | T |
c.397C>A
|
p.Leu133Met
|
3.0 |
|
B | ||
| 18790 | chr7 | 142960963 | GCAAGCTCCTGAAAAGAATTATTGGTCT | G |
c.338_364del
|
p.Glu113_Leu121del
|
- | 3.0 |
|
B | |
| 18791 | chr7 | 142961075 | G | A |
c.253C>T
|
p.Leu85Phe
|
- | 3.0 |
|
B | |
| 22334 | chr7 | 142961117 | G | A |
c.224-13C>T
|
-
|
- | 3.0 |
|
B | |
| 27148 | chr7 | 142961360 | G | A |
c.223C>T
|
p.Arg75Cys
|
3.0 |
|
B | ||
| 25630 | chr7 | 142961363 | G | A |
c.220C>T
|
p.Pro74Ser
|
- | 3.0 |
|
B | |
| 29749 | chr7 | 142961444 | G | A |
c.139C>T
|
p.Arg47Trp
|
3.0 |
|
B | ||
| 28672 | chr7 | 142961520 | G | T |
c.82-19C>A
|
-
|
- | 3.0 |
|
B | |
| 2520 | chr7 | 142961814 | C | A |
c.62G>T
|
p.Gly21Val
|
- | 3.0 |
|
B | |
| 13147 | chr7 | 142961861 | G | T |
c.15C>A
|
p.Asp5Glu
|
- | 3.0 |
|
B | |
| 4174 | chr7 | 142962219 | T | C |
c.-13A>G
|
-
|
- | 3.0 |
|
B | |
| 17134 | chr7 | 143356570 | C | T |
-
c.1063G>A
|
-
p.Glu355Lys
|
- | 3.0 |
|
B | |
| 25671 | chr7 | 143356584 | G | C |
-
c.1049C>G
|
-
p.Ser350Cys
|
- | 3.0 |
|
B | |
| 18306 | chr7 | 143356621 | G | C |
-
c.1012C>G
|
-
p.Arg338Gly
|
- | 3.0 |
|
B |