Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 872 | chr12 | 120993540 | G | A |
c.547G>A
|
p.Gly183Arg
|
- | 3.0 |
|
B | |
| 24254 | chr12 | 120993721 | G | A |
c.713+15G>A
|
-
|
2.5 |
|
B | ||
| 13601 | chr12 | 120994238 | G | A |
c.788G>A
|
p.Arg263His
|
3.5 |
|
B | ||
| 20247 | chr12 | 120994311 | CG | C |
c.864del
|
p.Pro291GlnfsTer51
|
4.0 |
|
B | ||
| 19729 | chr12 | 120994313 | G | GC |
c.863_864insC
|
p.Pro289AlafsTer28
|
4.5 |
|
B | ||
| 33832 | chr12 | 120994314 | G | GC |
c.872dup
|
p.Gly292ArgfsTer25
|
5.0 |
|
B | ||
| 8353 | chr12 | 120994314 | GC | G |
c.872del
|
p.Pro291GlnfsTer51
|
5.0 |
|
B | ||
| 12676 | chr12 | 120994339 | C | A |
c.889C>A
|
p.Pro297Thr
|
3.0 |
|
B | ||
| 31374 | chr12 | 120994373 | C | A |
c.923C>A
|
p.Pro308His
|
- | 3.0 |
|
B | |
| 28466 | chr12 | 120994404 | C | T |
c.954C>T
|
p.His318=
|
2.0 |
|
B | ||
| 18146 | chr12 | 120994406 | G | A |
c.955+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 20459 | chr12 | 120996286 | C | T |
c.980C>T
-
|
p.Thr327Ile
-
|
- | 3.0 |
|
B | |
| 35338 | chr12 | 120996538 | T | C |
c.1108-3T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 4418 | chr12 | 120996548 | C | T |
c.1115C>T
-
|
p.Ala372Val
-
|
- | 3.0 |
|
B | |
| 11356 | chr12 | 120996563 | TC | T |
c.1136del
-
|
p.Pro379LeufsTer5
-
|
4.0 |
|
B | ||
| 28646 | chr12 | 120996571 | G | A |
c.1138G>A
-
|
p.Val380Ile
-
|
3.0 |
|
B | ||
| 24576 | chr12 | 120996659 | C | T |
c.1226C>T
-
|
p.Pro409Leu
-
|
- | 3.0 |
|
B | |
| 17676 | chr12 | 120996667 | A | T |
c.1234A>T
-
|
p.Met412Leu
-
|
- | 3.0 |
|
B | |
| 35392 | chr12 | 120997460 | C | A |
c.1310-14C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 16377 | chr12 | 120997520 | G | C |
c.1356G>C
-
|
p.Met452Ile
-
|
- | 3.0 |
|
B |