Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32684 | chr4 | 65414290 | G | C |
c.1681C>G
|
p.Pro561Ala
|
- | 3.0 |
|
B | |
| 21374 | chr4 | 65414343 | C | A |
c.1628G>T
|
p.Arg543Leu
|
3.0 |
|
B | ||
| 1994 | chr4 | 65414368 | C | A |
c.1603G>T
|
p.Val535Phe
|
- | 3.0 |
|
B | |
| 5255 | chr4 | 65414424 | G | A |
c.1547C>T
|
p.Thr516Met
|
3.0 |
|
B | ||
| 7057 | chr4 | 65414436 | T | C |
c.1535A>G
|
p.Glu512Gly
|
- | 3.0 |
|
B | |
| 11572 | chr4 | 65414453 | C | T |
c.1528-10G>A
|
-
|
1.0 |
|
B | ||
| 6946 | chr4 | 65420517 | C | T |
c.1451G>A
|
p.Ser484Asn
|
3.0 |
|
B | ||
| 31759 | chr4 | 65420545 | C | T |
c.1423G>A
|
p.Val475Met
|
3.0 |
|
B | ||
| 9773 | chr4 | 65490529 | C | T |
c.1250G>A
|
p.Arg417Gln
|
3.0 |
|
B | ||
| 19575 | chr4 | 65490562 | T | TCA |
c.1215_1216dup
|
p.Glu406ValfsTer17
|
- | 3.0 |
|
B | |
| 8197 | chr4 | 65490585 | G | T |
c.1194C>A
|
p.Cys398Ter
|
- | 3.0 |
|
B | |
| 33791 | chr4 | 65490595 | C | A |
c.1184G>T
|
p.Cys395Phe
|
- | 3.0 |
|
B | |
| 11810 | chr4 | 65490626 | C | T |
c.1153G>A
|
p.Gly385Arg
|
- | 3.0 |
|
B | |
| 3373 | chr4 | 65490635 | C | A |
c.1144G>T
|
p.Asp382Tyr
|
- | 3.0 |
|
B | |
| 16967 | chr4 | 65490727 | A | G |
c.1067-15T>C
|
-
|
3.0 |
|
B | ||
| 16443 | chr4 | 65495388 | T | C |
c.1066A>G
|
p.Arg356Gly
|
3.0 |
|
B | ||
| 10956 | chr4 | 65495411 | T | A |
c.1043A>T
|
p.Asp348Val
|
- | 3.0 |
|
B | |
| 34856 | chr4 | 65495451 | A | T |
c.1003T>A
|
p.Ser335Thr
|
- | 3.0 |
|
B | |
| 6446 | chr4 | 65495466 | C | T |
c.988G>A
|
p.Glu330Lys
|
3.0 |
|
B | ||
| 4245 | chr4 | 65601716 | C | T |
c.835G>A
|
p.Glu279Lys
|
3.0 |
|
B |