Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6366 | chr14 | 64282746 | C | A |
c.240G>T
|
p.Trp80Cys
|
- | 3.0 |
|
B | |
| 34515 | chr14 | 64542572 | G | A |
c.1723G>A
|
p.Asp575Asn
|
- | 3.0 |
|
B | |
| 18409 | chr14 | 65006227 | G | A |
c.209+1914G>A
|
-
|
- | 3.0 |
|
B | |
| 30015 | chr14 | 65061162 | C | T |
c.1183-19C>T
|
-
|
3.0 |
|
B | ||
| 29220 | chr14 | 65076492 | C | T |
c.467G>A
|
p.Arg156Gln
|
3.0 |
|
B | ||
| 33133 | chr14 | 65076527 | A | G |
c.432T>C
|
p.Ser144=
|
2.0 |
|
B | ||
| 6548 | chr14 | 65076538 | T | TC |
c.420_421insG
|
p.Ser141GlufsTer5
|
- | 4.0 |
|
B | |
| 17528 | chr14 | 65076545 | C | T |
c.414G>A
|
p.Ser138=
|
2.0 |
|
B | ||
| 29221 | chr14 | 65076644 | C | T |
c.315G>A
|
p.Ala105=
|
2.0 |
|
B | ||
| 22145 | chr14 | 65077579 | C | G |
c.295+334G>C
|
-
|
- | 3.0 |
|
B | |
| 12438 | chr14 | 65077649 | C | A |
c.295+264G>T
|
-
|
1.0 |
|
B | ||
| 30873 | chr14 | 65077984 | C | T |
c.224G>A
|
p.Arg75Gln
|
- | 3.0 |
|
B | |
| 20497 | chr14 | 65078029 | C | T |
c.179G>A
|
p.Arg60Gln
|
3.0 |
|
B | ||
| 21937 | chr14 | 65093716 | C | A |
c.163G>T
|
p.Gly55Ter
|
- | 4.0 |
|
B | |
| 32748 | chr14 | 65093728 | G | A |
c.151C>T
|
p.Pro51Ser
|
- | 3.0 |
|
B | |
| 29076 | chr14 | 65101562 | G | A |
c.47C>T
|
p.Pro16Leu
|
3.0 |
|
B | ||
| 11756 | chr14 | 65101586 | G | GA |
c.37-15dup
|
-
|
2.5 |
|
B | ||
| 19890 | chr14 | 65101586 | GA | G |
c.37-15del
|
-
|
2.0 |
|
B | ||
| 19891 | chr14 | 65101586 | GAA | G |
c.37-16_37-15del
|
-
|
3.0 |
|
B | ||
| 1795 | chr14 | 65102301 | C | G |
c.36+3G>C
|
-
|
- | 3.5 |
|
B |