Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11958 | chr19 | 10503463 | G | C |
-
|
-
|
- | 3.0 |
|
B | |
| 24627 | chr19 | 10567108 | C | T |
-
c.451G>A
|
-
p.Ala151Thr
|
3.0 |
|
B | ||
| 15306 | chr19 | 10567269 | C | T |
-
c.290G>A
|
-
p.Gly97Glu
|
3.0 |
|
B | ||
| 28775 | chr19 | 10567387 | GGGCGAT | G |
-
c.166_171del
|
-
p.Ile56_Ala57del
|
- | 3.0 |
|
B | |
| 26454 | chr19 | 10718311 | C | G |
c.69C>G
-
|
p.Ile23Met
-
|
- | 3.0 |
|
B | |
| 29517 | chr19 | 10772466 | C | G |
c.236-13C>G
|
-
|
- | 3.0 |
|
B | |
| 16845 | chr19 | 10772470 | C | T |
c.236-9C>T
|
-
|
- | 3.0 |
|
B | |
| 774 | chr19 | 10772622 | C | T |
c.379C>T
|
p.Pro127Ser
|
- | 3.0 |
|
B | |
| 5376 | chr19 | 10772629 | G | A |
c.385+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 12846 | chr19 | 10775694 | C | T |
c.386-9C>T
|
-
|
- | 3.0 |
|
B | |
| 8802 | chr19 | 10775814 | G | A |
c.497G>A
|
p.Arg166Gln
|
2.0 |
|
B | ||
| 8593 | chr19 | 10775876 | CT | C |
c.560del
|
p.Leu187ProfsTer23
|
- | 4.0 |
|
B | |
| 32509 | chr19 | 10782944 | C | A |
c.689-16C>A
|
-
|
- | 3.0 |
|
B | |
| 22014 | chr19 | 10783043 | T | A |
c.772T>A
|
p.Phe258Ile
|
- | 3.0 |
|
B | |
| 13662 | chr19 | 10786709 | A | G |
c.992+3A>G
|
-
|
3.0 |
|
B | ||
| 26733 | chr19 | 10793723 | G | A |
c.996G>A
|
p.Met332Ile
|
- | 3.0 |
|
B | |
| 29477 | chr19 | 10805960 | C | A |
c.1538C>A
|
p.Pro513His
|
- | 3.0 |
|
B | |
| 29574 | chr19 | 10805975 | A | T |
c.1545+8A>T
|
-
|
- | 3.0 |
|
B | |
| 25647 | chr19 | 10820102 | G | A |
c.1781+13G>A
|
-
|
2.0 |
|
B | ||
| 33553 | chr19 | 10823776 | A | AC |
c.1782-5dup
|
-
|
2.0 |
|
B |