Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1327 | chr12 | 56092803 | C | A |
c.1166C>A
|
p.Thr389Lys
|
- | 3.0 |
|
B | |
| 12390 | chr12 | 56092997 | A | G |
c.1195A>G
|
p.Ile399Val
|
- | 3.0 |
|
B | |
| 20534 | chr12 | 56093092 | G | A |
c.1274+16G>A
|
-
|
- | 3.0 |
|
B | |
| 20535 | chr12 | 56093093 | G | A |
c.1274+17G>A
|
-
|
3.0 |
|
B | ||
| 27569 | chr12 | 56093428 | G | A |
c.1358G>A
|
p.Arg453His
|
3.0 |
|
B | ||
| 17176 | chr12 | 56093493 | C | T |
c.1423C>T
|
p.Arg475Trp
|
3.0 |
|
B | ||
| 6094 | chr12 | 56094103 | C | T |
c.1618C>T
|
p.Pro540Ser
|
- | 3.0 |
|
B | |
| 18936 | chr12 | 56094151 | T | A |
c.1666T>A
|
p.Cys556Ser
|
- | 3.0 |
|
B | |
| 11760 | chr12 | 56095709 | T | A |
c.1958T>A
|
p.Val653Glu
|
- | 3.0 |
|
B | |
| 16909 | chr12 | 56097034 | G | A |
c.2275-11G>A
|
-
|
- | 3.0 |
|
B | |
| 11770 | chr12 | 56097037 | T | C |
c.2275-8T>C
|
-
|
- | 3.0 |
|
B | |
| 32290 | chr12 | 56097216 | G | C |
c.2446G>C
|
p.Val816Leu
|
3.0 |
|
B | ||
| 5729 | chr12 | 56097861 | G | T |
c.2537G>T
|
p.Ser846Ile
|
- | 4.0 |
|
B | |
| 13358 | chr12 | 56098483 | C | G |
c.2617-17C>G
|
-
|
- | 3.0 |
|
B | |
| 31373 | chr12 | 56098542 | A | T |
c.2659A>T
|
p.Lys887Ter
|
- | 3.0 |
|
B | |
| 14346 | chr12 | 56098711 | C | T |
c.2693-48C>T
|
-
|
- | 3.0 |
|
B | |
| 914 | chr12 | 56098804 | C | T |
c.2738C>T
|
p.Ala913Val
|
- | 3.0 |
|
B | |
| 2814 | chr12 | 56098852 | G | A |
c.2786G>A
|
p.Arg929Gln
|
3.0 |
|
B | ||
| 33854 | chr12 | 56100209 | G | T |
c.3165G>T
-
|
p.Met1055Ile
-
|
3.0 |
|
B | ||
| 18408 | chr12 | 56101116 | C | T |
c.3257C>T
-
|
p.Pro1086Leu
-
|
3.0 |
|
B |