Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32982 | chr1 | 243695734 | G | A |
c.47-18C>T
|
-
|
2.0 |
|
B | ||
| 23711 | chr1 | 243809222 | A | C |
c.46+33903T>G
|
-
|
- | 3.0 |
|
B | |
| 5773 | chr1 | 247424621 | G | A |
c.1172G>A
|
p.Arg391Lys
|
- | 3.0 |
|
B | |
| 4370 | chr1 | 247425022 | G | A |
c.1573G>A
|
p.Glu525Lys
|
3.5 |
|
B | ||
| 12234 | chr1 | 247876317 | GATCTT | G |
c.1292_1296del
|
p.Ser431TyrfsTer20
|
- | 3.0 |
|
B | |
| 3520 | chr1 | 248388444 | C | T |
c.836C>T
|
p.Thr279Ile
|
- | 3.0 |
|
B | |
| 5152 | chr1 | 248916973 | AT | A |
c.390del
|
p.His130GlnfsTer5
|
- | 3.0 |
|
B | |
| 4816 | chr1 | 248916976 | T | TA |
c.392_393insA
|
p.Glu132Ter
|
- | 3.0 |
|
B | |
| 2756 | chr2 | 669833 | T | C |
c.251A>G
|
p.Gln84Arg
|
3.0 |
|
B | ||
| 2757 | chr2 | 669834 | G | A |
c.250C>T
|
p.Gln84Ter
|
3.0 |
|
B | ||
| 13959 | chr2 | 5694786 | CA | C |
c.*750del
|
-
|
3.0 |
|
B | ||
| 15138 | chr2 | 5695203 | TA | T |
c.*1167del
|
-
|
1.0 |
|
B | ||
| 17489 | chr2 | 5695569 | T | A |
c.*1522T>A
|
-
|
- | 3.0 |
|
B | |
| 26466 | chr2 | 8682457 | GCGTCCAGGACGC | G |
c.295_306del
|
p.Ser99_Pro102del
|
- | 3.0 |
|
B | |
| 26467 | chr2 | 8682475 | A | G |
c.310A>G
|
p.Thr104Ala
|
- | 3.0 |
|
B | |
| 4627 | chr2 | 8862589 | C | T |
c.1185+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 5153 | chr2 | 11155664 | C | T |
c.118C>T
-
|
p.Pro40Ser
-
|
- | 3.0 |
|
B | |
| 5154 | chr2 | 11155665 | C | T |
c.119C>T
-
|
p.Pro40Leu
-
|
- | 3.0 |
|
B | |
| 3521 | chr2 | 11669877 | CCAG | C |
c.250_252del
|
p.Leu84del
|
3.0 |
|
B | ||
| 12346 | chr2 | 15539219 | A | C |
c.513+4T>G
|
-
|
- | 3.0 |
|
B |