Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35472 | chr7 | 116699068 | C | T |
c.-14-3C>T
|
-
|
- | 3.0 |
|
B | |
| 7422 | chr7 | 116699121 | G | A |
c.37G>A
|
p.Val13Met
|
2.5 |
|
B | ||
| 5587 | chr7 | 116699275 | T | G |
c.191T>G
|
p.Leu64Arg
|
- | 3.0 |
|
B | |
| 5877 | chr7 | 116699325 | G | T |
c.241G>T
|
p.Val81Phe
|
2.5 |
|
B | ||
| 34903 | chr7 | 116699466 | G | C |
c.382G>C
|
p.Asp128His
|
- | 3.0 |
|
B | |
| 29193 | chr7 | 116699724 | A | C |
c.640A>C
|
p.Ile214Leu
|
- | 3.0 |
|
B | |
| 18983 | chr7 | 116699922 | A | G |
c.838A>G
|
p.Arg280Gly
|
- | 3.0 |
|
B | |
| 25517 | chr7 | 116699988 | G | A |
c.904G>A
|
p.Glu302Lys
|
- | 3.0 |
|
B | |
| 15417 | chr7 | 116700056 | GC | G |
c.974del
|
p.Pro325LeufsTer9
|
- | 3.0 |
|
B | |
| 31080 | chr7 | 116723713 | C | A |
c.1201-7955C>A
|
-
|
- | 3.0 |
|
B | |
| 35320 | chr7 | 116731717 | G | A |
c.1250G>A
|
p.Arg417Gln
|
- | 3.0 |
|
B | |
| 27279 | chr7 | 116739949 | G | A |
c.1393-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 2411 | chr7 | 116740002 | A | G |
c.1445A>G
|
p.Asp482Gly
|
- | 3.0 |
|
B | |
| 29754 | chr7 | 116740049 | C | G |
c.1492C>G
|
p.Gln498Glu
|
- | 3.0 |
|
B | |
| 24302 | chr7 | 116740842 | C | T |
c.1528-10C>T
|
-
|
- | 2.5 |
|
B | |
| 34135 | chr7 | 116740925 | C | A |
c.1601C>A
|
p.Pro534His
|
- | 3.0 |
|
B | |
| 10367 | chr7 | 116755424 | C | T |
c.1771C>T
|
p.Arg591Trp
|
2.5 |
|
B | ||
| 7759 | chr7 | 116755425 | G | C |
c.1772G>C
|
p.Arg591Pro
|
- | 3.0 |
|
B | |
| 29387 | chr7 | 116755524 | C | T |
c.1862+9C>T
|
-
|
- | 3.0 |
|
B | |
| 1875 | chr7 | 116757505 | A | G |
c.1931A>G
|
p.His644Arg
|
- | 3.0 |
|
B |