Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18044 | chr1 | 32274901 | C | T |
c.187+83C>T
|
-
|
- | 3.0 |
|
B | |
| 18045 | chr1 | 32274952 | G | A |
c.188-41G>A
|
-
|
3.0 |
|
B | ||
| 17125 | chr1 | 32275364 | G | A |
c.322G>A
|
p.Glu108Lys
|
- | 3.0 |
|
B | |
| 28085 | chr1 | 32275558 | G | A |
c.378-11G>A
|
-
|
- | 3.0 |
|
B | |
| 17168 | chr1 | 32275674 | T | G |
c.481+2T>G
|
p.?
|
3.0 |
|
B | ||
| 12789 | chr1 | 32276322 | C | T |
c.632-15C>T
|
-
|
3.0 |
|
B | ||
| 26269 | chr1 | 32276347 | T | A |
c.642T>A
|
p.Asp214Glu
|
- | 3.0 |
|
B | |
| 33230 | chr1 | 32276447 | G | A |
c.742G>A
|
p.Val248Met
|
- | 3.0 |
|
B | |
| 25410 | chr1 | 32276485 | G | A |
c.780G>A
|
p.Trp260Ter
|
3.0 |
|
B | ||
| 27901 | chr1 | 32276600 | G | A |
c.785-7G>A
|
-
|
2.0 |
|
B | ||
| 29109 | chr1 | 32279708 | C | G |
c.1002C>G
|
p.Ile334Met
|
- | 3.0 |
|
B | |
| 29483 | chr1 | 32279826 | G | T |
c.1042-15G>T
|
-
|
- | 3.0 |
|
B | |
| 25352 | chr1 | 32279855 | G | C |
c.1056G>C
|
p.Met352Ile
|
- | 3.0 |
|
B | |
| 32933 | chr1 | 32279880 | A | T |
c.1081A>T
|
p.Ile361Phe
|
- | 3.0 |
|
B | |
| 32829 | chr1 | 32279932 | G | T |
c.1133G>T
|
p.Cys378Phe
|
- | 3.0 |
|
B | |
| 17507 | chr1 | 32279958 | C | T |
c.1159C>T
|
p.Arg387Cys
|
3.0 |
|
B | ||
| 23352 | chr1 | 32280002 | T | G |
c.1195+8T>G
|
-
|
- | 3.0 |
|
B | |
| 24599 | chr1 | 32285648 | G | T |
c.1462G>T
|
p.Asp488Tyr
|
- | 3.0 |
|
B | |
| 22707 | chr1 | 32285708 | C | G |
c.1522C>G
|
p.Gln508Glu
|
- | 3.0 |
|
B | |
| 24012 | chr1 | 32363671 | T | G |
-
c.222T>G
-
|
-
p.Tyr74Ter
-
|
- | 3.0 |
|
B |