Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3873 | chr1 | 150578972 | G | A |
c.559C>T
|
p.Arg187Trp
|
- | 3.0 |
|
B | |
| 3874 | chr1 | 150578983 | G | A |
c.548C>T
|
p.Ser183Phe
|
3.0 |
|
B | ||
| 23559 | chr1 | 150579105 | C | A |
c.426G>T
|
p.Pro142=
|
3.0 |
|
B | ||
| 11016 | chr1 | 150579153 | C | T |
c.378G>A
|
p.Leu126=
|
- | 3.0 |
|
B | |
| 23378 | chr1 | 150579155 | G | C |
c.376C>G
|
p.Leu126Val
|
3.0 |
|
B | ||
| 1677 | chr1 | 150579233 | C | A |
c.298G>T
|
p.Ala100Ser
|
- | 3.0 |
|
B | |
| 14571 | chr1 | 150579234 | G | A |
c.297C>T
|
p.Phe99=
|
3.0 |
|
B | ||
| 3875 | chr1 | 150579234 | G | T |
c.297C>A
|
p.Phe99Leu
|
- | 3.0 |
|
B | |
| 14275 | chr1 | 150579331 | G | A |
c.200C>T
|
p.Ser67Phe
|
3.0 |
|
B | ||
| 3876 | chr1 | 150579403 | G | A |
c.128C>T
|
p.Ser43Leu
|
3.0 |
|
B | ||
| 3170 | chr1 | 150579447 | G | T |
c.84C>A
|
p.Ala28=
|
- | 3.0 |
|
B | |
| 26561 | chr1 | 150698744 | G | A |
c.1105-10C>T
-
|
-
-
|
3.0 |
|
B | ||
| 7298 | chr1 | 150700122 | G | T |
c.1094C>A
-
|
p.Ser365Tyr
-
|
- | 3.0 |
|
B | |
| 32690 | chr1 | 150703371 | G | A |
c.971C>T
|
p.Thr324Ile
|
3.0 |
|
B | ||
| 12794 | chr1 | 150704316 | C | T |
c.832G>A
|
p.Glu278Lys
|
3.0 |
|
B | ||
| 13355 | chr1 | 150706568 | C | A |
c.789G>T
|
p.Gln263His
|
- | 3.0 |
|
B | |
| 26105 | chr1 | 150706585 | C | G |
c.772G>C
|
p.Asp258His
|
3.0 |
|
B | ||
| 17661 | chr1 | 150708979 | G | A |
c.328-18C>T
|
-
|
3.0 |
|
B | ||
| 15788 | chr1 | 150714123 | TA | T |
c.243-3del
|
-
|
2.0 |
|
B | ||
| 25484 | chr1 | 150714134 | T | A |
c.243-13A>T
|
-
|
- | 3.0 |
|
B |