Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19132 | chr2 | 140274603 | GA | G |
c.12968-6del
|
-
|
3.0 |
|
B | ||
| 20589 | chr2 | 140297794 | C | A |
c.12967+14G>T
|
-
|
- | 3.0 |
|
B | |
| 7594 | chr2 | 140297804 | T | A |
c.12967+4A>T
|
-
|
- | 3.5 |
|
B | |
| 24600 | chr2 | 140297868 | C | A |
c.12907G>T
|
p.Ala4303Ser
|
3.0 |
|
B | ||
| 23737 | chr2 | 140297904 | C | T |
c.12871G>A
|
p.Asp4291Asn
|
- | 3.0 |
|
B | |
| 5276 | chr2 | 140297931 | G | T |
c.12844C>A
|
p.Pro4282Thr
|
- | 3.0 |
|
B | |
| 14034 | chr2 | 140314931 | T | G |
c.12805+4A>C
|
-
|
3.5 |
|
B | ||
| 30305 | chr2 | 140315031 | A | C |
c.12709T>G
|
p.Cys4237Gly
|
- | 3.0 |
|
B | |
| 7509 | chr2 | 140322008 | C | T |
c.12595G>A
|
p.Gly4199Arg
|
3.0 |
|
B | ||
| 21997 | chr2 | 140322049 | CAAA | C |
c.12551_12553del
|
p.Leu4184_Cys4185delinsArg
|
- | 3.0 |
|
B | |
| 29316 | chr2 | 140323882 | A | G |
c.12514+11T>C
|
-
|
- | 3.0 |
|
B | |
| 33304 | chr2 | 140323916 | G | T |
c.12491C>A
|
p.Ser4164Tyr
|
- | 3.0 |
|
B | |
| 35153 | chr2 | 140323941 | C | A |
c.12466G>T
|
p.Asp4156Tyr
|
- | 3.0 |
|
B | |
| 24601 | chr2 | 140324031 | C | G |
c.12376G>C
|
p.Asp4126His
|
- | 3.0 |
|
B | |
| 10821 | chr2 | 140324069 | G | T |
c.12341-3C>A
|
-
|
- | 3.0 |
|
B | |
| 23792 | chr2 | 140325788 | G | A |
c.12314C>T
|
p.Ser4105Leu
|
- | 3.0 |
|
B | |
| 10926 | chr2 | 140325819 | T | G |
c.12283A>C
|
p.Ile4095Leu
|
- | 3.0 |
|
B | |
| 9294 | chr2 | 140334448 | C | T |
c.12223+5G>A
|
-
|
- | 3.0 |
|
B | |
| 14114 | chr2 | 140334454 | T | G |
c.12222A>C
|
p.Thr4074=
|
- | 3.5 |
|
B | |
| 9734 | chr2 | 140334551 | T | C |
c.12125A>G
|
p.Tyr4042Cys
|
- | 3.0 |
|
B |