Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29911 | chr19 | 41879145 | G | C |
-
c.235G>C
|
-
p.Glu79Gln
|
3.0 |
|
B | ||
| 12890 | chr19 | 41879175 | G | T |
-
c.265G>T
|
-
p.Gly89Cys
|
- | 3.0 |
|
B | |
| 17175 | chr19 | 41879230 | G | A |
-
c.320G>A
|
-
p.Arg107Gln
|
3.0 |
|
B | ||
| 12507 | chr19 | 41879389 | C | G |
-
c.379+100C>G
|
-
-
|
- | 3.0 |
|
B | |
| 17416 | chr19 | 41879524 | C | T |
-
c.380-11C>T
|
-
-
|
3.0 |
|
B | ||
| 13686 | chr19 | 41879666 | G | A |
-
c.498+13G>A
|
-
-
|
2.0 |
|
B | ||
| 13663 | chr19 | 41880694 | G | A |
-
c.523G>A
|
-
p.Gly175Arg
|
- | 3.0 |
|
B | |
| 13080 | chr19 | 41880724 | G | T |
-
c.553G>T
|
-
p.Glu185Ter
|
- | 3.0 |
|
B | |
| 34520 | chr19 | 41904946 | C | A |
c.2162-3C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 5230 | chr19 | 41908407 | C | T |
-
c.886G>A
|
-
p.Ala296Thr
|
- | 3.0 |
|
B | |
| 8081 | chr19 | 42271863 | A | C |
c.80A>C
|
p.Lys27Thr
|
- | 3.0 |
|
B | |
| 15136 | chr19 | 42271877 | C | T |
c.94C>T
|
p.Arg32Ter
|
- | 4.0 |
|
B | |
| 33412 | chr19 | 42272211 | C | T |
c.428C>T
|
p.Thr143Ile
|
3.0 |
|
B | ||
| 8803 | chr19 | 42272291 | G | A |
c.508G>A
|
p.Glu170Lys
|
- | 3.0 |
|
B | |
| 29783 | chr19 | 42272352 | C | T |
c.569C>T
|
p.Pro190Leu
|
3.0 |
|
B | ||
| 5639 | chr19 | 42272624 | T | C |
c.841T>C
|
p.Tyr281His
|
- | 3.0 |
|
B | |
| 30276 | chr19 | 42272802 | G | GC |
c.1026dup
|
p.Trp343LeufsTer4
|
- | 4.0 |
|
B | |
| 15849 | chr19 | 42272802 | GC | G |
c.1026del
|
p.Trp343GlyfsTer7
|
- | 4.0 |
|
B | |
| 30927 | chr19 | 42272969 | C | T |
c.1186C>T
|
p.His396Tyr
|
- | 3.0 |
|
B | |
| 13726 | chr19 | 42273041 | C | A |
c.1258C>A
|
p.Gln420Lys
|
- | 3.0 |
|
B |