Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4749 | chr14 | 52878643 | G | A |
c.902C>T
|
p.Ala301Val
|
3.0 |
|
B | ||
| 5733 | chr14 | 54478163 | T | A |
c.358-4A>T
|
-
|
3.0 |
|
B | ||
| 4528 | chr14 | 55008633 | G | A |
c.428C>T
|
p.Ser143Phe
|
3.0 |
|
B | ||
| 25845 | chr14 | 55612284 | G | T |
c.236G>T
|
p.Ser79Ile
|
- | 3.0 |
|
B | |
| 31220 | chr14 | 55612308 | C | T |
c.260C>T
|
p.Ser87Leu
|
- | 3.0 |
|
B | |
| 16810 | chr14 | 55612343 | C | T |
c.295C>T
|
p.Pro99Ser
|
3.0 |
|
B | ||
| 20126 | chr14 | 55612547 | CAGA | C |
c.505_507del
|
p.Lys169del
|
3.0 |
|
B | ||
| 31788 | chr14 | 55616552 | C | T |
c.559C>T
|
p.Pro187Ser
|
3.0 |
|
B | ||
| 22930 | chr14 | 55619227 | C | T |
c.878C>T
|
p.Thr293Ile
|
3.0 |
|
B | ||
| 21903 | chr14 | 55634638 | C | A |
c.1441C>A
|
p.Gln481Lys
|
- | 3.0 |
|
B | |
| 11376 | chr14 | 55634672 | A | C |
c.1461+14A>C
|
-
|
- | 3.0 |
|
B | |
| 34866 | chr14 | 55636498 | T | C |
c.1511T>C
|
p.Ile504Thr
|
- | 3.0 |
|
B | |
| 25004 | chr14 | 55637778 | G | T |
c.1717-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 34279 | chr14 | 55640358 | T | A |
c.1915-16T>A
|
-
|
- | 3.0 |
|
B | |
| 33427 | chr14 | 55640963 | C | G |
c.2014C>G
|
p.Gln672Glu
|
3.0 |
|
B | ||
| 24579 | chr14 | 55650396 | C | T |
c.2474C>T
|
p.Ala825Val
|
3.0 |
|
B | ||
| 23522 | chr14 | 55650428 | G | T |
c.2496+10G>T
|
-
|
- | 3.0 |
|
B | |
| 24703 | chr14 | 55653093 | A | G |
c.2763+8A>G
|
-
|
- | 3.0 |
|
B | |
| 20635 | chr14 | 55658556 | A | T |
c.2903A>T
|
p.Asp968Val
|
3.0 |
|
B | ||
| 29136 | chr14 | 55661535 | G | C |
c.3013G>C
|
p.Glu1005Gln
|
- | 3.0 |
|
B |