Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34707 | chr2 | 178593573 | C | T |
c.58727G>A
|
p.Arg19576His
|
3.0 |
|
B | ||
| 25754 | chr2 | 178593942 | T | A |
c.58432+19A>T
|
-
|
- | 3.0 |
|
B | |
| 35000 | chr2 | 178595536 | G | C |
c.57818C>G
|
p.Ser19273Ter
|
- | 3.0 |
|
B | |
| 33900 | chr2 | 178595584 | C | T |
c.57770G>A
|
p.Arg19257Gln
|
2.0 |
|
B | ||
| 15539 | chr2 | 178595795 | C | T |
c.57559G>A
|
p.Val19187Ile
|
3.0 |
|
B | ||
| 9888 | chr2 | 178597690 | C | A |
c.57392G>T
|
p.Arg19131Ile
|
- | 3.0 |
|
B | |
| 17363 | chr2 | 178597765 | G | A |
c.57317C>T
|
p.Ala19106Val
|
- | 3.0 |
|
B | |
| 30686 | chr2 | 178597921 | C | T |
c.57249G>A
|
p.Met19083Ile
|
- | 3.0 |
|
B | |
| 16520 | chr2 | 178597935 | C | T |
c.57235G>A
|
p.Asp19079Asn
|
3.0 |
|
B | ||
| 8325 | chr2 | 178598813 | A | T |
c.56897T>A
|
p.Ile18966Asn
|
- | 3.0 |
|
B | |
| 30578 | chr2 | 178599018 | G | A |
c.56692C>T
|
p.Arg18898Cys
|
3.0 |
|
B | ||
| 18382 | chr2 | 178599076 | C | T |
c.56648-14G>A
|
-
|
- | 3.0 |
|
B | |
| 18065 | chr2 | 178599167 | C | T |
c.56626G>A
|
p.Glu18876Lys
|
3.0 |
|
B | ||
| 20800 | chr2 | 178599188 | C | T |
c.56605G>A
|
p.Glu18869Lys
|
- | 3.0 |
|
B | |
| 15860 | chr2 | 178599759 | C | T |
c.56142G>A
|
p.Pro18714=
|
2.0 |
|
B | ||
| 12260 | chr2 | 178599809 | C | T |
c.56092G>A
|
p.Glu18698Lys
|
- | 3.0 |
|
B | |
| 32432 | chr2 | 178599862 | A | T |
c.56051-12T>A
|
-
|
2.0 |
|
B | ||
| 13502 | chr2 | 178601093 | T | C |
c.55811A>G
|
p.Lys18604Arg
|
- | 3.0 |
|
B | |
| 14001 | chr2 | 178601112 | G | T |
c.55792C>A
|
p.Leu18598Met
|
- | 3.0 |
|
B | |
| 30579 | chr2 | 178601175 | T | C |
c.55733-4A>G
|
-
|
- | 3.0 |
|
B |