Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8218 | chr4 | 20553804 | G | A |
c.2562-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 18086 | chr4 | 20553881 | G | A |
c.2638G>A
|
p.Glu880Lys
|
3.0 |
|
B | ||
| 29461 | chr4 | 20553948 | C | T |
c.2705C>T
|
p.Ser902Phe
|
- | 3.0 |
|
B | |
| 26494 | chr4 | 20553974 | G | A |
c.2725+6G>A
|
-
|
- | 3.0 |
|
B | |
| 32696 | chr4 | 20567313 | C | T |
c.2777C>T
|
p.Pro926Leu
|
3.0 |
|
B | ||
| 12600 | chr4 | 20567373 | C | T |
c.2837C>T
|
p.Pro946Leu
|
- | 3.0 |
|
B | |
| 28862 | chr4 | 20568882 | G | A |
c.2966G>A
|
p.Gly989Glu
|
- | 3.0 |
|
B | |
| 31398 | chr4 | 20589649 | T | G |
c.3094T>G
|
p.Leu1032Val
|
- | 3.0 |
|
B | |
| 13142 | chr4 | 20595744 | T | G |
c.3230T>G
|
p.Phe1077Cys
|
- | 3.0 |
|
B | |
| 7351 | chr4 | 20595777 | G | T |
c.3263G>T
|
p.Gly1088Val
|
- | 3.0 |
|
B | |
| 7959 | chr4 | 20595804 | G | T |
c.3290G>T
|
p.Gly1097Val
|
- | 3.0 |
|
B | |
| 31728 | chr4 | 20595810 | C | T |
c.3296C>T
|
p.Thr1099Met
|
3.0 |
|
B | ||
| 29462 | chr4 | 20596456 | G | A |
c.3362G>A
|
p.Arg1121His
|
3.0 |
|
B | ||
| 21302 | chr4 | 20596559 | G | C |
c.3465G>C
|
p.Lys1155Asn
|
- | 3.0 |
|
B | |
| 17263 | chr4 | 20596629 | C | T |
c.3535C>T
|
p.Arg1179Trp
|
3.0 |
|
B | ||
| 7420 | chr4 | 20596639 | C | T |
c.3545C>T
|
p.Thr1182Met
|
3.0 |
|
B | ||
| 4279 | chr4 | 20596641 | A | T |
c.3547A>T
|
p.Asn1183Tyr
|
- | 3.0 |
|
B | |
| 25551 | chr4 | 20598253 | A | G |
c.3562-12A>G
|
-
|
- | 3.0 |
|
B | |
| 17264 | chr4 | 20598305 | G | A |
c.3602G>A
|
p.Gly1201Asp
|
- | 3.0 |
|
B | |
| 30595 | chr4 | 20598337 | C | T |
c.3634C>T
|
p.Arg1212Trp
|
3.0 |
|
B |