Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18635 | chr12 | 114672119 | C | T |
c.1894G>A
|
p.Gly632Ser
|
2.5 |
|
B | ||
| 27040 | chr12 | 114672132 | CA | C |
c.1880del
|
p.Val627GlyfsTer242
|
- | 3.5 |
|
B | |
| 33596 | chr12 | 114672211 | C | G |
c.1802G>C
|
p.Ser601Thr
|
- | 3.0 |
|
B | |
| 15096 | chr12 | 114672259 | TA | T |
c.1753del
|
p.Tyr585ThrfsTer27
|
- | 3.5 |
|
B | |
| 33024 | chr12 | 114672306 | G | C |
c.1711-4C>G
|
-
|
- | 3.0 |
|
B | |
| 14598 | chr12 | 114674257 | C | T |
c.1618G>A
|
p.Ala540Thr
|
3.0 |
|
B | ||
| 18145 | chr12 | 114674312 | G | A |
c.1563C>T
|
p.Pro521=
|
3.0 |
|
B | ||
| 17550 | chr12 | 114674348 | GC | G |
c.1526del
|
p.Gly509AlafsTer103
|
- | 3.5 |
|
B | |
| 12998 | chr12 | 114674393 | G | A |
c.1482C>T
|
p.Asn494=
|
2.5 |
|
B | ||
| 26472 | chr12 | 114674432 | G | C |
c.1443C>G
|
p.Leu481=
|
- | 3.0 |
|
B | |
| 23875 | chr12 | 114674477 | C | A |
c.1398G>T
|
p.Thr466=
|
3.0 |
|
B | ||
| 10242 | chr12 | 114674482 | G | A |
c.1393C>T
|
p.Gln465Ter
|
- | 4.0 |
|
B | |
| 12119 | chr12 | 114674487 | G | A |
c.1388C>T
|
p.Thr463Met
|
3.0 |
|
B | ||
| 27649 | chr12 | 114674511 | C | T |
c.1364G>A
|
p.Gly455Asp
|
3.0 |
|
B | ||
| 19727 | chr12 | 114674526 | G | A |
c.1349C>T
|
p.Ala450Val
|
3.0 |
|
B | ||
| 8117 | chr12 | 114674553 | C | T |
c.1322G>A
|
p.Gly441Asp
|
3.0 |
|
B | ||
| 6305 | chr12 | 114674554 | C | T |
c.1321G>A
|
p.Gly441Ser
|
3.0 |
|
B | ||
| 15204 | chr12 | 114674631 | G | C |
c.1244C>G
|
p.Ser415Ter
|
- | 3.5 |
|
B | |
| 10992 | chr12 | 114674702 | C | G |
c.1173G>C
|
p.Ala391=
|
1.0 |
|
B | ||
| 3213 | chr12 | 114674734 | C | T |
c.1141G>A
|
p.Glu381Lys
|
3.0 |
|
B |