Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2760 | chr5 | 64575778 | G | A |
c.337G>A
|
p.Glu113Lys
|
- | 3.0 |
|
B | |
| 14115 | chr5 | 68226898 | G | A |
c.223G>A
|
p.Glu75Lys
|
- | 3.0 |
|
B | |
| 218 | chr5 | 68226907 | G | T |
c.232G>T
|
p.Gly78Ter
|
- | 4.33 |
|
A | |
| 15487 | chr5 | 68226912 | G | GA |
c.244dup
|
p.Ile82AsnfsTer24
|
- | 4.0 |
|
B | |
| 18095 | chr5 | 68226952 | C | T |
c.277C>T
|
p.Arg93Trp
|
3.0 |
|
B | ||
| 1977 | chr5 | 68226980 | C | A |
c.305C>A
|
p.Ser102Ter
|
- | 4.0 |
|
B | |
| 15179 | chr5 | 68226988 | G | A |
c.313G>A
|
p.Glu105Lys
|
- | 3.0 |
|
B | |
| 23959 | chr5 | 68227001 | A | T |
c.326A>T
|
p.Glu109Val
|
- | 3.0 |
|
B | |
| 10547 | chr5 | 68273451 | T | TA |
c.397dup
|
p.Ile133AsnfsTer8
|
- | 4.0 |
|
B | |
| 33616 | chr5 | 68273492 | C | T |
c.427+10C>T
|
-
|
- | 3.0 |
|
B | |
| 30111 | chr5 | 68273921 | G | A |
c.428-18G>A
|
-
|
3.0 |
|
B | ||
| 10958 | chr5 | 68273995 | C | T |
c.484C>T
|
p.Arg162Ter
|
4.5 |
|
B | ||
| 19133 | chr5 | 68280518 | A | T |
c.635-10A>T
|
-
|
2.5 |
|
B | ||
| 32430 | chr5 | 68280521 | C | A |
c.635-7C>A
|
-
|
- | 3.0 |
|
B | |
| 219 | chr5 | 68280920 | C | T |
c.837-7C>T
|
-
|
2.5 |
|
A | ||
| 2477 | chr5 | 68280991 | C | T |
c.901C>T
|
p.Arg301Ter
|
4.0 |
|
B | ||
| 28024 | chr5 | 68288697 | C | A |
c.917-3562C>A
|
-
|
- | 3.0 |
|
B | |
| 28025 | chr5 | 68290873 | C | T |
c.917-1386C>T
|
-
|
3.0 |
|
B | ||
| 10548 | chr5 | 68292237 | ACTTTTT | A |
c.917-14_917-9del
|
-
|
- | 3.0 |
|
B | |
| 220 | chr5 | 68292336 | G | T |
c.994G>T
|
p.Glu332Ter
|
- | 4.33 |
|
A |