Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32711 | chr19 | 54783646 | G | A |
c.880G>A
|
p.Glu294Lys
|
- | 3.0 |
|
B | |
| 32055 | chr19 | 54783688 | T | A |
c.922T>A
|
p.Cys308Ser
|
- | 3.0 |
|
B | |
| 13281 | chr19 | 54783743 | C | T |
c.977C>T
|
p.Pro326Leu
|
- | 3.0 |
|
B | |
| 24857 | chr19 | 54783809 | C | T |
c.1043C>T
|
p.Pro348Leu
|
3.0 |
|
B | ||
| 3462 | chr19 | 54806041 | C | T |
c.452C>T
|
p.Ser151Phe
|
3.0 |
|
B | ||
| 3562 | chr19 | 54909249 | G | A |
c.360G>A
|
p.Met120Ile
|
- | 3.0 |
|
B | |
| 4556 | chr19 | 54912704 | G | A |
c.748G>A
|
p.Asp250Asn
|
- | 3.0 |
|
B | |
| 35204 | chr19 | 55154145 | C | T |
-
-
c.434G>A
|
-
-
p.Arg145Gln
|
3.0 |
|
B | ||
| 30327 | chr19 | 55156318 | C | G |
-
c.165G>C
|
-
p.Gln55His
|
- | 3.0 |
|
B | |
| 12508 | chr19 | 55156586 | G | A |
-
c.150+17C>T
|
-
-
|
- | 3.0 |
|
B | |
| 20629 | chr19 | 55156691 | G | C |
-
c.109-47C>G
|
-
-
|
- | 3.0 |
|
B | |
| 5268 | chr19 | 55240013 | C | G |
c.1463G>C
|
p.Arg488Pro
|
- | 3.0 |
|
B | |
| 4557 | chr19 | 55359036 | G | A |
c.1832C>T
-
|
p.Ser611Leu
-
|
2.5 |
|
B | ||
| 11135 | chr19 | 55494665 | G | A |
c.1269G>A
|
p.Thr423=
|
3.0 |
|
B | ||
| 4558 | chr19 | 55614355 | A | G |
c.737A>G
|
p.His246Arg
|
- | 3.0 |
|
B | |
| 4559 | chr19 | 56028310 | G | A |
c.2077G>A
|
p.Glu693Lys
|
3.0 |
|
B | ||
| 3463 | chr19 | 56192953 | C | T |
c.100G>A
|
p.Gly34Arg
|
- | 3.0 |
|
B | |
| 25783 | chr19 | 57231125 | AG | A |
c.-122del
|
-
|
- | 3.0 |
|
B | |
| 25784 | chr19 | 57231128 | ACGAGCAGGATTGG | A |
c.-120_-108del
|
-
|
3.0 |
|
B | ||
| 13863 | chr19 | 57231130 | G | T |
c.-119G>T
|
-
|
3.0 |
|
B |