Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8857 | chr12 | 114680932 | C | T |
c.604G>A
|
p.Val202Ile
|
3.0 |
|
B | ||
| 22921 | chr12 | 114680974 | G | A |
c.562C>T
|
p.Pro188Ser
|
3.0 |
|
B | ||
| 6231 | chr12 | 114680989 | T | A |
c.547A>T
|
p.Arg183Trp
|
- | 3.0 |
|
B | |
| 6638 | chr12 | 114681028 | A | C |
c.508T>G
|
p.Trp170Gly
|
- | 3.0 |
|
B | |
| 33282 | chr12 | 114681058 | C | T |
c.478G>A
|
p.Asp160Asn
|
- | 3.0 |
|
B | |
| 3136 | chr12 | 114681123 | A | C |
c.413T>G
|
p.Val138Gly
|
- | 3.0 |
|
B | |
| 1421 | chr12 | 114681136 | G | A |
c.400C>T
|
p.Pro134Ser
|
- | 3.0 |
|
B | |
| 29141 | chr12 | 114681156 | G | T |
c.390-10C>A
|
-
|
- | 3.0 |
|
B | |
| 24482 | chr12 | 114682847 | C | G |
c.354G>C
|
p.Lys118Asn
|
- | 3.0 |
|
B | |
| 7751 | chr12 | 114682860 | T | TC |
c.340dup
|
p.Asp114GlyfsTer24
|
- | 4.0 |
|
B | |
| 12665 | chr12 | 114682863 | CA | C |
c.337del
|
p.Trp113GlyfsTer26
|
- | 3.5 |
|
B | |
| 29751 | chr12 | 114683050 | C | T |
c.151G>A
|
p.Ala51Thr
|
3.0 |
|
B | ||
| 17010 | chr12 | 114683054 | G | T |
c.147C>A
|
p.Asn49Lys
|
- | 3.0 |
|
B | |
| 1204 | chr12 | 114683179 | G | T |
c.22C>A
|
p.Pro8Thr
|
3.0 |
|
B | ||
| 23342 | chr12 | 117469673 | C | T |
c.2835G>A
|
p.Trp945Ter
|
- | 3.0 |
|
B | |
| 28538 | chr12 | 117469791 | A | T |
c.2717T>A
|
p.Ile906Asn
|
- | 3.0 |
|
B | |
| 16490 | chr12 | 117471204 | C | T |
c.2699G>A
|
p.Gly900Glu
|
- | 3.0 |
|
B | |
| 32384 | chr12 | 117471210 | C | T |
c.2693G>A
|
p.Gly898Asp
|
- | 3.0 |
|
B | |
| 17969 | chr12 | 117471332 | C | T |
c.2583-12G>A
|
-
|
3.0 |
|
B | ||
| 18601 | chr12 | 117476598 | G | A |
c.2451-3C>T
|
-
|
1.5 |
|
B |