Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26842 | chr12 | 95786928 | G | A |
c.585+11C>T
|
-
|
- | 3.0 |
|
B | |
| 29651 | chr12 | 95786991 | C | T |
c.533G>A
|
p.Gly178Asp
|
- | 3.0 |
|
B | |
| 4302 | chr12 | 95787100 | T | C |
c.424A>G
|
p.Met142Val
|
3.0 |
|
B | ||
| 12938 | chr12 | 95787244 | T | C |
c.280A>G
|
p.Met94Val
|
- | 3.0 |
|
B | |
| 12747 | chr12 | 95787414 | C | T |
c.110G>A
|
p.Arg37Gln
|
3.0 |
|
B | ||
| 2996 | chr12 | 95790263 | A | C |
c.47T>G
|
p.Val16Gly
|
- | 3.0 |
|
B | |
| 4735 | chr12 | 96300357 | C | T |
c.547G>A
|
p.Glu183Lys
|
- | 3.0 |
|
B | |
| 6785 | chr12 | 98648633 | A | C |
c.146A>C
-
|
p.Gln49Pro
-
|
3.0 |
|
B | ||
| 30871 | chr12 | 98648824 | C | T |
c.328+9C>T
-
|
-
-
|
3.0 |
|
B | ||
| 30289 | chr12 | 98649619 | G | T |
c.461G>T
-
|
p.Gly154Val
-
|
- | 3.0 |
|
B | |
| 29022 | chr12 | 98649621 | A | T |
c.463A>T
-
|
p.Met155Leu
-
|
- | 3.0 |
|
B | |
| 13900 | chr12 | 98659152 | C | T |
c.527-8C>T
|
-
|
3.0 |
|
B | ||
| 19725 | chr12 | 98662438 | A | AT |
c.711-8dup
|
-
|
3.0 |
|
B | ||
| 20112 | chr12 | 98662438 | AT | A |
c.711-8del
|
-
|
3.0 |
|
B | ||
| 11918 | chr12 | 98662464 | T | G |
c.719T>G
|
p.Leu240Trp
|
- | 3.0 |
|
B | |
| 18740 | chr12 | 98662722 | G | A |
c.871G>A
|
p.Gly291Arg
|
- | 3.0 |
|
B | |
| 19671 | chr12 | 98665538 | AT | A |
c.956-5del
|
-
|
3.0 |
|
B | ||
| 21332 | chr12 | 98665561 | C | T |
c.964C>T
|
p.Leu322Phe
|
- | 3.0 |
|
B | |
| 6953 | chr12 | 98665612 | G | T |
c.1015G>T
|
p.Glu339Ter
|
- | 3.5 |
|
B | |
| 29652 | chr12 | 98666185 | C | T |
c.1195-5C>T
|
-
|
3.0 |
|
B |