Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3268 | chr11 | 1017417 | G | A |
c.5384C>T
|
p.Thr1795Ile
|
3.0 |
|
B | ||
| 3676 | chr11 | 1018428 | C | A |
c.4373G>T
|
p.Ser1458Ile
|
3.0 |
|
B | ||
| 3677 | chr11 | 1031808 | C | T |
c.356+5G>A
|
-
|
- | 3.0 |
|
B | |
| 15264 | chr11 | 1085241 | G | A |
c.2137G>A
|
p.Val713Ile
|
3.0 |
|
B | ||
| 6114 | chr11 | 2133233 | G | T |
c.307-10C>A
|
-
|
- | 3.0 |
|
B | |
| 4389 | chr11 | 2133525 | C | T |
c.298G>A
|
p.Val100Met
|
- | 3.0 |
|
B | |
| 2389 | chr11 | 2133545 | T | G |
c.278A>C
|
p.Asp93Ala
|
- | 3.0 |
|
B | |
| 23790 | chr11 | 2133651 | G | A |
c.172C>T
|
p.Arg58Cys
|
- | 3.0 |
|
B | |
| 18401 | chr11 | 2133661 | C | A |
c.162G>T
|
p.Arg54Ser
|
- | 3.0 |
|
B | |
| 855 | chr11 | 2135386 | C | T |
c.138G>A
|
p.Gly46=
|
- | 3.0 |
|
B | |
| 5452 | chr11 | 2135484 | T | A |
c.40A>T
|
p.Thr14Ser
|
- | 3.0 |
|
B | |
| 2332 | chr11 | 2135528 | G | A |
c.-5C>T
|
-
|
3.0 |
|
B | ||
| 11494 | chr11 | 2140249 | T | A |
-
|
-
|
- | 3.0 |
|
B | |
| 18831 | chr11 | 2140315 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 11337 | chr11 | 2445198 | T | A |
-
c.100T>A
|
-
p.Cys34Ser
|
- | 3.0 |
|
B | |
| 23787 | chr11 | 2445295 | C | T |
-
c.197C>T
|
-
p.Ser66Phe
|
3.0 |
|
B | ||
| 19697 | chr11 | 2445388 | G | A |
-
c.290G>A
|
-
p.Arg97His
|
3.0 |
|
B | ||
| 28996 | chr11 | 2445415 | T | A |
-
c.317T>A
|
-
p.Val106Asp
|
3.0 |
|
B | ||
| 28250 | chr11 | 2527950 | C | CTCATCT |
c.413_418dup
|
p.Ile138_Phe139dup
|
- | 3.0 |
|
B | |
| 30858 | chr11 | 2572020 | C | T |
c.691C>T
|
p.Arg231Cys
|
3.0 |
|
B |