Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21649 | chr1 | 150714691 | A | G |
c.179-13T>C
|
-
|
- | 3.0 |
|
B | |
| 26441 | chr1 | 150717166 | T | A |
c.150A>T
|
p.Glu50Asp
|
- | 3.0 |
|
B | |
| 17560 | chr1 | 150719498 | G | A |
c.8C>T
|
p.Thr3Ile
|
- | 3.0 |
|
B | |
| 30399 | chr1 | 150807005 | T | TTC |
-
c.-1-201_-1-200dup
|
-
-
|
2.0 |
|
B | ||
| 16678 | chr1 | 150812035 | G | A |
c.2356C>T
-
|
p.Pro786Ser
-
|
- | 3.0 |
|
B | |
| 30063 | chr1 | 150817924 | G | A |
c.1501C>T
|
p.Pro501Ser
|
3.0 |
|
B | ||
| 17561 | chr1 | 150817953 | G | T |
c.1472C>A
|
p.Pro491His
|
- | 3.0 |
|
B | |
| 20506 | chr1 | 150826636 | A | C |
c.1168-19T>G
|
-
|
1.0 |
|
B | ||
| 25910 | chr1 | 150829960 | C | A |
c.976G>T
|
p.Asp326Tyr
|
- | 3.0 |
|
B | |
| 31195 | chr1 | 150832409 | G | A |
c.804-10C>T
|
-
|
3.0 |
|
B | ||
| 21359 | chr1 | 150836304 | A | T |
c.676T>A
|
p.Ser226Thr
|
- | 3.0 |
|
B | |
| 24006 | chr1 | 150836375 | G | A |
c.605C>T
|
p.Ser202Phe
|
- | 3.0 |
|
B | |
| 27782 | chr1 | 150839622 | C | T |
c.305G>A
|
p.Arg102Gln
|
3.0 |
|
B | ||
| 19945 | chr1 | 150842466 | G | A |
c.230C>T
|
p.Ser77Leu
|
3.0 |
|
B | ||
| 9463 | chr1 | 150927818 | T | A |
c.104T>A
|
p.Ile35Asn
|
- | 3.0 |
|
B | |
| 6084 | chr1 | 150927915 | G | A |
c.201G>A
|
p.Trp67Ter
|
- | 3.5 |
|
B | |
| 30728 | chr1 | 150941309 | C | T |
c.448-20C>T
|
-
|
- | 3.0 |
|
B | |
| 24345 | chr1 | 150941333 | G | A |
c.452G>A
|
p.Arg151His
|
3.0 |
|
B | ||
| 9244 | chr1 | 150942623 | G | A |
c.608G>A
|
p.Arg203Gln
|
3.0 |
|
B | ||
| 530 | chr1 | 150942944 | G | C |
c.766G>C
|
p.Asp256His
|
3.0 |
|
B |