Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24005 | chr1 | 149010606 | G | T |
c.5278+11G>T
|
-
|
- | 3.0 |
|
B | |
| 27607 | chr1 | 149012746 | C | G |
c.5434C>G
|
p.Leu1812Val
|
- | 3.0 |
|
B | |
| 27850 | chr1 | 149016398 | C | T |
c.5564C>T
|
p.Pro1855Leu
|
3.0 |
|
B | ||
| 12146 | chr1 | 149016497 | C | T |
c.5663C>T
|
p.Ser1888Phe
|
- | 3.0 |
|
B | |
| 14502 | chr1 | 149016549 | A | T |
c.5715A>T
|
p.Thr1905=
|
- | 3.0 |
|
B | |
| 26783 | chr1 | 149017882 | A | G |
c.5848+3A>G
|
-
|
- | 3.0 |
|
B | |
| 29681 | chr1 | 149018559 | T | C |
c.5866T>C
|
p.Tyr1956His
|
- | 3.0 |
|
B | |
| 24013 | chr1 | 149028583 | T | G |
c.6891T>G
|
p.His2297Gln
|
- | 3.0 |
|
B | |
| 21723 | chr1 | 149028660 | C | T |
c.6968C>T
|
p.Ala2323Val
|
3.0 |
|
B | ||
| 13286 | chr1 | 149029796 | A | C |
c.7021A>C
|
p.Thr2341Pro
|
- | 3.0 |
|
B | |
| 17558 | chr1 | 149029805 | G | A |
c.7030G>A
|
p.Glu2344Lys
|
3.0 |
|
B | ||
| 13081 | chr1 | 149030229 | C | T |
c.7151-3C>T
|
-
|
3.0 |
|
B | ||
| 12379 | chr1 | 149030296 | C | A |
c.7197+18C>A
|
-
|
- | 3.0 |
|
B | |
| 4474 | chr1 | 149813663 | T | A |
c.19A>T
-
|
p.Thr7Ser
-
|
3.0 |
|
B | ||
| 13577 | chr1 | 149909589 | G | T |
c.1180-18C>A
|
-
|
- | 3.0 |
|
B | |
| 11567 | chr1 | 149929105 | A | AC |
c.*23_*24insG
-
|
-
-
|
- | 3.0 |
|
B | |
| 13578 | chr1 | 150343464 | A | C |
c.1426+12A>C
|
-
|
- | 3.0 |
|
B | |
| 5646 | chr1 | 150577390 | T | G |
c.1038A>C
|
p.Ala346=
|
- | 3.0 |
|
B | |
| 32889 | chr1 | 150577412 | G | GCAACACCTGCAAAAGCCAGCAGCA |
c.992_1015dup
|
p.Val331_Val338dup
|
- | 3.0 |
|
B | |
| 16118 | chr1 | 150578835 | C | A |
c.688+8G>T
|
-
|
- | 3.0 |
|
B |