Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35276 | chr12 | 65914835 | C | T |
c.250-36548C>T
|
-
|
- | 3.0 |
|
B | |
| 33377 | chr12 | 65914894 | C | T |
c.250-36489C>T
|
-
|
2.0 |
|
B | ||
| 27627 | chr12 | 65963233 | T | C |
c.283-12T>C
|
-
|
3.0 |
|
B | ||
| 19668 | chr12 | 66138156 | TA | T |
c.520del
|
p.Tyr174IlefsTer4
|
3.0 |
|
B | ||
| 11130 | chr12 | 68321542 | C | T |
c.888G>A
|
p.Trp296Ter
|
- | 3.0 |
|
B | |
| 13068 | chr12 | 68651982 | A | G |
c.127-13A>G
|
-
|
- | 3.0 |
|
B | |
| 25192 | chr12 | 68652070 | C | T |
c.183+19C>T
|
-
|
- | 3.0 |
|
B | |
| 17344 | chr12 | 68654106 | T | G |
c.184-6T>G
|
-
|
- | 3.0 |
|
B | |
| 23291 | chr12 | 68654202 | G | T |
c.274G>T
|
p.Asp92Tyr
|
- | 3.0 |
|
B | |
| 33702 | chr12 | 68654232 | C | T |
c.304C>T
|
p.Arg102Ter
|
- | 3.0 |
|
B | |
| 32042 | chr12 | 68816945 | GGTAATTCTTCA | G |
c.308+3_308+13del
|
-
|
- | 3.0 |
|
B | |
| 18501 | chr12 | 68820328 | AAT | A |
c.318_319del
|
p.Thr107HisfsTer23
|
- | 3.0 |
|
B | |
| 2235 | chr12 | 68820340 | G | A |
c.324G>A
|
p.Met108Ile
|
- | 3.0 |
|
B | |
| 14604 | chr12 | 68824384 | C | T |
c.380C>T
|
p.Ser127Phe
|
- | 3.0 |
|
B | |
| 11148 | chr12 | 68824589 | C | T |
c.461C>T
|
p.Ser154Leu
|
- | 3.0 |
|
B | |
| 29897 | chr12 | 68828824 | G | C |
c.577G>C
|
p.Asp193His
|
3.0 |
|
B | ||
| 15285 | chr12 | 68835819 | C | G |
c.685-10C>G
|
-
|
- | 3.0 |
|
B | |
| 34383 | chr12 | 68835922 | C | T |
c.778C>T
|
p.Leu260Phe
|
- | 3.0 |
|
B | |
| 35022 | chr12 | 68835973 | G | A |
c.829G>A
|
p.Glu277Lys
|
- | 3.0 |
|
B | |
| 27107 | chr12 | 68835984 | GGTA | G |
c.840+4_840+6del
|
-
|
- | 3.0 |
|
B |