Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30013 | chr12 | 132681298 | C | T |
c.63-19G>A
|
-
|
- | 3.0 |
|
B | |
| 17886 | chr12 | 132687264 | C | T |
c.52G>A
-
|
p.Glu18Lys
-
|
2.5 |
|
B | ||
| 31588 | chr12 | 132687404 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 11771 | chr12 | 132687696 | G | C |
-
c.26G>C
|
-
p.Arg9Pro
|
- | 3.0 |
|
B | |
| 20883 | chr13 | 19993476 | C | T |
c.404C>T
|
p.Ser135Phe
|
- | 3.0 |
|
B | |
| 29717 | chr13 | 19993893 | G | A |
c.821G>A
|
p.Gly274Glu
|
- | 3.0 |
|
B | |
| 17343 | chr13 | 19993899 | C | T |
c.827C>T
|
p.Ser276Phe
|
- | 3.0 |
|
B | |
| 16005 | chr13 | 20002839 | T | C |
c.848-11T>C
|
-
|
- | 3.0 |
|
B | |
| 6914 | chr13 | 20002883 | G | C |
c.881G>C
|
p.Arg294Pro
|
- | 3.0 |
|
B | |
| 14689 | chr13 | 20002900 | G | A |
c.898G>A
|
p.Gly300Arg
|
- | 3.0 |
|
B | |
| 9429 | chr13 | 20002969 | C | G |
c.967C>G
|
p.Pro323Ala
|
- | 3.0 |
|
B | |
| 29184 | chr13 | 20003041 | C | T |
c.1039C>T
|
p.Arg347Ter
|
- | 3.0 |
|
B | |
| 9418 | chr13 | 20019547 | G | A |
c.1513G>A
|
p.Val505Ile
|
- | 3.0 |
|
B | |
| 660 | chr13 | 20034270 | T | A |
c.1985T>A
|
p.Phe662Tyr
|
- | 3.0 |
|
B | |
| 7609 | chr13 | 20034384 | A | G |
c.2099A>G
|
p.Lys700Arg
|
- | 3.0 |
|
B | |
| 9806 | chr13 | 20036767 | C | A |
c.2150C>A
|
p.Ala717Asp
|
- | 3.0 |
|
B | |
| 6038 | chr13 | 20036889 | T | A |
c.2272T>A
|
p.Phe758Ile
|
3.0 |
|
B | ||
| 26817 | chr13 | 20051496 | G | A |
c.2356G>A
|
p.Glu786Lys
|
3.0 |
|
B | ||
| 20077 | chr13 | 20064536 | TA | T |
c.3131del
|
p.Lys1044ArgfsTer33
|
3.0 |
|
B | ||
| 28492 | chr13 | 20067226 | T | C |
c.3302-13T>C
|
-
|
- | 3.0 |
|
B |