Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5003 | chr4 | 54698386 | C | T |
c.440C>T
|
p.Ser147Phe
|
- | 3.0 |
|
B | |
| 1937 | chr4 | 54698436 | C | T |
c.490C>T
|
p.Pro164Ser
|
- | 3.0 |
|
B | |
| 29386 | chr4 | 54698442 | C | T |
c.496C>T
|
p.Pro166Ser
|
- | 3.0 |
|
B | |
| 28745 | chr4 | 54698475 | C | T |
c.529C>T
|
p.Arg177Cys
|
- | 3.0 |
|
B | |
| 10581 | chr4 | 54698484 | C | A |
c.538C>A
|
p.His180Asn
|
- | 3.0 |
|
B | |
| 7350 | chr4 | 54698509 | T | G |
c.563T>G
|
p.Val188Gly
|
- | 3.0 |
|
B | |
| 2209 | chr4 | 54699726 | C | G |
c.716C>G
|
p.Ser239Cys
|
- | 3.0 |
|
B | |
| 25106 | chr4 | 54699744 | C | G |
c.734C>G
|
p.Thr245Arg
|
3.0 |
|
B | ||
| 32081 | chr4 | 54703719 | A | G |
c.757-5A>G
|
-
|
3.0 |
|
B | ||
| 1983 | chr4 | 54703806 | C | T |
c.839C>T
|
p.Ala280Val
|
2.5 |
|
B | ||
| 35109 | chr4 | 54703867 | T | G |
c.900T>G
|
p.Asn300Lys
|
- | 3.0 |
|
B | |
| 13623 | chr4 | 54703883 | G | C |
c.916G>C
|
p.Glu306Gln
|
- | 3.0 |
|
B | |
| 23575 | chr4 | 54707232 | AC | A |
c.1062del
|
p.Phe355SerfsTer20
|
- | 3.0 |
|
B | |
| 21746 | chr4 | 54707238 | ACTGATAAATGGGAAGATTATCCCAAGT | A |
c.1071_1097del
|
p.Asp357_Ser365del
|
- | 3.0 |
|
B | |
| 24193 | chr4 | 54709423 | G | A |
c.1116-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 14863 | chr4 | 54709468 | G | A |
c.1160G>A
|
p.Gly387Glu
|
- | 3.0 |
|
B | |
| 15763 | chr4 | 54723651 | C | A |
c.1299C>A
|
p.Phe433Leu
|
- | 3.0 |
|
B | |
| 29367 | chr4 | 54725838 | T | A |
c.1347-19T>A
|
-
|
- | 3.0 |
|
B | |
| 466 | chr4 | 54725938 | T | A |
c.1428T>A
|
p.Ser476Arg
|
- | 3.0 |
|
B | |
| 8260 | chr4 | 54726041 | A | G |
c.1531A>G
|
p.Asn511Asp
|
- | 3.0 |
|
B |