Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5076 | chr11 | 22625165 | G | A |
c.646C>T
|
p.Arg216Cys
|
- | 3.0 |
|
B | |
| 25378 | chr11 | 22625221 | G | A |
c.590C>T
|
p.Pro197Leu
|
3.0 |
|
B | ||
| 33498 | chr11 | 22625251 | C | A |
c.560G>T
|
p.Arg187Met
|
- | 3.0 |
|
B | |
| 29039 | chr11 | 22625498 | C | G |
c.313G>C
|
p.Asp105His
|
- | 3.0 |
|
B | |
| 21193 | chr11 | 22625671 | C | A |
c.140G>T
|
p.Arg47Leu
|
3.0 |
|
B | ||
| 11316 | chr11 | 22625819 | C | A |
c.-9G>T
|
-
|
- | 3.0 |
|
B | |
| 19700 | chr11 | 27890198 | G | GTCT |
n.833_835dup
|
-
|
3.0 |
|
B | ||
| 19648 | chr11 | 27890301 | T | C |
n.733A>G
|
-
|
- | 3.0 |
|
B | |
| 26100 | chr11 | 27890320 | C | T |
n.714G>A
|
-
|
- | 3.0 |
|
B | |
| 18136 | chr11 | 27890425 | T | C |
n.609A>G
|
-
|
3.0 |
|
B | ||
| 22353 | chr11 | 27890630 | C | T |
n.404G>A
|
-
|
3.0 |
|
B | ||
| 14211 | chr11 | 27890632 | G | A |
n.402C>T
|
-
|
3.0 |
|
B | ||
| 21040 | chr11 | 27890703 | C | T |
n.331G>A
|
-
|
3.0 |
|
B | ||
| 6357 | chr11 | 32389065 | G | A |
c.1562C>T
|
p.Ala521Val
|
2.5 |
|
B | ||
| 35334 | chr11 | 32389089 | C | A |
c.1538G>T
|
p.Arg513Ile
|
- | 3.0 |
|
B | |
| 1706 | chr11 | 32389111 | G | A |
c.1516C>T
|
p.Arg506Cys
|
3.0 |
|
B | ||
| 29527 | chr11 | 32389177 | C | T |
c.1450G>A
|
p.Glu484Lys
|
- | 3.0 |
|
B | |
| 419 | chr11 | 32392014 | C | T |
c.1405G>A
|
p.Asp469Asn
|
4.0 |
|
A | ||
| 22441 | chr11 | 32392056 | G | T |
c.1363C>A
|
p.Pro455Thr
|
- | 3.0 |
|
B | |
| 26573 | chr11 | 32392704 | C | T |
c.1316G>A
|
p.Arg439His
|
4.0 |
|
B |