Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7967 | chr14 | 95103971 | G | A |
c.3425C>T
|
p.Ser1142Phe
|
3.0 |
|
B | ||
| 19095 | chr14 | 95104040 | T | C |
c.3356A>G
|
p.Asp1119Gly
|
- | 3.0 |
|
B | |
| 35348 | chr14 | 95104134 | G | T |
c.3270-8C>A
|
-
|
- | 3.0 |
|
B | |
| 33406 | chr14 | 95105052 | G | A |
c.3269+19C>T
|
-
|
- | 2.0 |
|
B | |
| 5788 | chr14 | 95105760 | T | C |
c.3011A>G
|
p.His1004Arg
|
- | 3.0 |
|
B | |
| 25314 | chr14 | 95105787 | T | C |
c.2988-4A>G
|
-
|
2.5 |
|
B | ||
| 7631 | chr14 | 95108057 | C | T |
c.2473G>A
|
p.Val825Ile
|
- | 3.0 |
|
B | |
| 4010 | chr14 | 95108380 | G | A |
c.2380C>T
|
p.Pro794Ser
|
3.0 |
|
B | ||
| 511 | chr14 | 95108500 | G | A |
c.2260C>T
|
p.Pro754Ser
|
- | 3.0 |
|
B | |
| 2106 | chr14 | 95111316 | C | A |
c.2256+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 21010 | chr14 | 95111325 | G | A |
c.2248C>T
|
p.Pro750Ser
|
- | 3.0 |
|
B | |
| 26524 | chr14 | 95113171 | C | A |
c.1961G>T
|
p.Arg654Ile
|
- | 3.0 |
|
B | |
| 28041 | chr14 | 95113238 | G | T |
c.1908-14C>A
|
-
|
2.0 |
|
B | ||
| 35349 | chr14 | 95113242 | T | G |
c.1908-18A>C
|
-
|
- | 3.0 |
|
B | |
| 6865 | chr14 | 95116575 | G | A |
c.1630C>T
|
p.Arg544Ter
|
4.5 |
|
B | ||
| 15833 | chr14 | 95116698 | GA | G |
c.1510-4del
|
-
|
2.0 |
|
B | ||
| 9097 | chr14 | 95124242 | C | T |
c.1330G>A
|
p.Gly444Arg
|
3.0 |
|
B | ||
| 12532 | chr14 | 95126730 | A | C |
c.753T>G
|
p.Cys251Trp
|
- | 3.0 |
|
B | |
| 25443 | chr14 | 95129536 | G | A |
c.670C>T
|
p.Gln224Ter
|
- | 4.0 |
|
B | |
| 24329 | chr14 | 95131497 | T | C |
c.438+12A>G
|
-
|
- | 2.5 |
|
B |