Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8945 | chr19 | 7267802 | C | A |
c.195G>T
|
p.Met65Ile
|
- | 3.0 |
|
B | |
| 10162 | chr19 | 7293793 | C | A |
c.99G>T
|
p.Glu33Asp
|
- | 3.0 |
|
B | |
| 14359 | chr19 | 7619771 | C | T |
-
c.2482G>A
|
-
p.Asp828Asn
|
- | 3.0 |
|
B | |
| 16651 | chr19 | 7620343 | G | A |
-
c.2198C>T
|
-
p.Thr733Met
|
3.0 |
|
B | ||
| 29303 | chr19 | 7620580 | G | C |
-
c.2061C>G
|
-
p.Ile687Met
|
- | 3.0 |
|
B | |
| 26406 | chr19 | 7620660 | C | T |
-
c.1981G>A
|
-
p.Asp661Asn
|
- | 3.0 |
|
B | |
| 34700 | chr19 | 7620901 | G | A |
-
c.1916C>T
|
-
p.Ala639Val
|
3.0 |
|
B | ||
| 19834 | chr19 | 7621296 | G | A |
-
c.1619C>T
|
-
p.Ala540Val
|
3.0 |
|
B | ||
| 17903 | chr19 | 7623730 | C | G |
c.1119+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 18930 | chr19 | 7626064 | G | A |
c.658-20C>T
-
|
-
-
|
3.0 |
|
B | ||
| 16911 | chr19 | 7627377 | G | A |
c.388C>T
-
-
|
p.Arg130Cys
-
-
|
3.0 |
|
B | ||
| 12491 | chr19 | 7627391 | C | T |
c.374G>A
-
-
|
p.Arg125His
-
-
|
3.0 |
|
B | ||
| 17405 | chr19 | 7627717 | G | A |
c.324+11C>T
-
-
|
-
-
-
|
2.5 |
|
B | ||
| 23885 | chr19 | 7627845 | T | A |
c.207A>T
-
-
|
p.Lys69Asn
-
-
|
- | 3.0 |
|
B | |
| 15216 | chr19 | 7628232 | G | A |
c.118C>T
-
-
|
p.Arg40Cys
-
-
|
3.0 |
|
B | ||
| 28931 | chr19 | 7743073 | G | A |
c.1181C>T
|
p.Pro394Leu
|
3.0 |
|
B | ||
| 20913 | chr19 | 7743095 | C | T |
c.1159G>A
|
p.Asp387Asn
|
- | 3.0 |
|
B | |
| 21638 | chr19 | 7743158 | C | T |
c.1096G>A
|
p.Asp366Asn
|
3.0 |
|
B | ||
| 16844 | chr19 | 7744143 | G | A |
c.977C>T
|
p.Thr326Met
|
3.0 |
|
B | ||
| 31635 | chr19 | 7744225 | G | T |
c.901-6C>A
|
-
|
3.0 |
|
B |