Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21733 | chr19 | 12940666 | G | T |
c.816+12G>T
|
-
|
- | 3.0 |
|
B | |
| 12694 | chr19 | 12943533 | C | G |
c.961-4C>G
-
|
-
-
|
3.0 |
|
B | ||
| 10717 | chr19 | 12943623 | AAC | A |
c.1049_1050del
-
|
p.Thr350LysfsTer18
-
|
- | 3.5 |
|
B | |
| 22788 | chr19 | 12943730 | G | T |
c.1071G>T
-
|
p.Met357Ile
-
|
- | 3.0 |
|
B | |
| 12004 | chr19 | 12943839 | G | T |
c.1180G>T
-
|
p.Asp394Tyr
-
|
- | 3.0 |
|
B | |
| 34400 | chr19 | 12943875 | G | C |
c.1216G>C
-
|
p.Glu406Gln
-
|
- | 3.0 |
|
B | |
| 17966 | chr19 | 12943990 | T | G |
c.*77T>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 24539 | chr19 | 14092648 | C | T |
c.*464G>A
|
-
|
3.0 |
|
B | ||
| 21415 | chr19 | 14093180 | C | A |
c.988G>T
|
p.Asp330Tyr
|
- | 3.0 |
|
B | |
| 29829 | chr19 | 14097582 | G | T |
c.639C>A
|
p.Ser213Arg
|
- | 3.0 |
|
B | |
| 30665 | chr19 | 14097630 | C | G |
c.591G>C
|
p.Trp197Cys
|
- | 3.0 |
|
B | |
| 15401 | chr19 | 14100813 | G | T |
c.419+13C>A
|
-
|
- | 3.0 |
|
B | |
| 15908 | chr19 | 14100823 | T | A |
c.419+3A>T
|
-
|
- | 3.0 |
|
B | |
| 15443 | chr19 | 14100865 | C | T |
c.380G>A
|
p.Gly127Glu
|
- | 3.0 |
|
B | |
| 22056 | chr19 | 14102922 | G | A |
c.238-8C>T
|
-
|
3.0 |
|
B | ||
| 12855 | chr19 | 14114148 | G | A |
c.46+3354C>T
-
|
-
-
|
3.0 |
|
B | ||
| 3290 | chr19 | 14474083 | G | T |
-
c.238C>A
-
|
-
p.Leu80Met
-
|
3.0 |
|
B | ||
| 13292 | chr19 | 14516179 | G | T |
c.793-9C>A
|
-
|
- | 3.0 |
|
B | |
| 13229 | chr19 | 14516456 | G | A |
c.792+10C>T
|
-
|
- | 3.0 |
|
B | |
| 31136 | chr19 | 14516545 | A | T |
c.713T>A
|
p.Val238Asp
|
- | 3.0 |
|
B |