Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23981 | chr3 | 196067575 | C | G |
c.983G>C
|
p.Gly328Ala
|
- | 3.0 |
|
B | |
| 22288 | chr3 | 196067618 | G | A |
c.940C>T
|
p.Pro314Ser
|
- | 3.0 |
|
B | |
| 29886 | chr3 | 196068137 | G | C |
c.802-7C>G
|
-
|
- | 3.0 |
|
B | |
| 27314 | chr3 | 196069450 | C | G |
c.801+5G>C
|
-
|
- | 3.0 |
|
B | |
| 24984 | chr3 | 196071460 | C | A |
c.623G>T
|
p.Arg208Ile
|
- | 3.0 |
|
B | |
| 34461 | chr3 | 196074067 | C | G |
c.297G>C
|
p.Glu99Asp
|
- | 3.0 |
|
B | |
| 22617 | chr3 | 196075148 | G | A |
c.238+11C>T
|
-
|
- | 3.0 |
|
B | |
| 13326 | chr3 | 196075354 | C | T |
c.43G>A
|
p.Gly15Arg
|
3.0 |
|
B | ||
| 13327 | chr3 | 196075375 | A | T |
c.37-15T>A
|
-
|
- | 3.0 |
|
B | |
| 3572 | chr4 | 634751 | G | A |
c.543G>A
|
p.Met181Ile
|
- | 3.0 |
|
B | |
| 31065 | chr4 | 849873 | G | A |
c.3834+19C>T
|
-
|
3.0 |
|
B | ||
| 15930 | chr4 | 849993 | C | T |
c.3733G>A
|
p.Gly1245Arg
|
3.0 |
|
B | ||
| 28952 | chr4 | 851102 | CT | C |
c.3509-19del
|
-
|
3.0 |
|
B | ||
| 23629 | chr4 | 851991 | C | A |
c.3284-17G>T
|
-
|
3.0 |
|
B | ||
| 23693 | chr4 | 851992 | G | A |
c.3284-18C>T
|
-
|
3.0 |
|
B | ||
| 35483 | chr4 | 866351 | G | A |
c.3043+13C>T
|
-
|
3.0 |
|
B | ||
| 7282 | chr4 | 867135 | G | A |
c.2693C>T
|
p.Pro898Leu
|
3.0 |
|
B | ||
| 32319 | chr4 | 867282 | G | T |
c.2546C>A
|
p.Pro849His
|
- | 3.0 |
|
B | |
| 35211 | chr4 | 867433 | C | T |
c.2396-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 22722 | chr4 | 868677 | C | G |
c.2257G>C
|
p.Glu753Gln
|
3.0 |
|
B |