Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19436 | chr4 | 65669602 | G | A |
c.141C>T
|
p.Cys47=
|
3.0 |
|
B | ||
| 7557 | chr4 | 65669614 | G | C |
c.129C>G
|
p.Cys43Trp
|
3.0 |
|
B | ||
| 27015 | chr4 | 65669651 | C | T |
c.92G>A
|
p.Cys31Tyr
|
- | 3.0 |
|
B | |
| 28184 | chr4 | 65669687 | C | T |
c.56G>A
|
p.Gly19Asp
|
- | 3.0 |
|
B | |
| 26645 | chr4 | 65669697 | T | C |
c.46A>G
|
p.Ser16Gly
|
- | 3.0 |
|
B | |
| 34253 | chr4 | 65669723 | C | T |
c.20G>A
|
p.Arg7Gln
|
3.0 |
|
B | ||
| 7497 | chr4 | 65669735 | C | T |
c.8G>A
|
p.Gly3Asp
|
- | 3.0 |
|
B | |
| 27719 | chr4 | 65669759 | C | A |
c.-17G>T
|
-
|
- | 3.0 |
|
B | |
| 32215 | chr4 | 67914685 | C | G |
c.998G>C
|
p.Ser333Thr
|
3.0 |
|
B | ||
| 1289 | chr4 | 67914695 | T | C |
c.988A>G
|
p.Lys330Glu
|
- | 3.0 |
|
B | |
| 5163 | chr4 | 69280732 | C | T |
c.232C>T
|
p.Pro78Ser
|
- | 3.0 |
|
B | |
| 4064 | chr4 | 69842008 | G | A |
c.871C>T
|
p.Arg291Ter
|
3.0 |
|
B | ||
| 5165 | chr4 | 70644010 | G | A |
c.2584G>A
|
p.Glu862Lys
|
- | 3.0 |
|
B | |
| 3527 | chr4 | 70644401 | G | A |
c.2975G>A
|
p.Gly992Glu
|
- | 3.0 |
|
B | |
| 5166 | chr4 | 73488667 | G | A |
c.751G>A
|
p.Glu251Lys
|
- | 3.0 |
|
B | |
| 8588 | chr4 | 74365390 | T | C |
c.67+15T>C
|
-
|
- | 3.0 |
|
B | |
| 19189 | chr4 | 74379505 | G | C |
c.125G>C
|
p.Gly42Ala
|
- | 3.0 |
|
B | |
| 30104 | chr4 | 74379545 | G | A |
c.154+11G>A
|
-
|
3.0 |
|
B | ||
| 1021 | chr4 | 74381034 | C | T |
c.175C>T
|
p.Arg59Cys
|
3.0 |
|
B | ||
| 18567 | chr4 | 74382638 | C | T |
c.279-7C>T
|
-
|
- | 3.0 |
|
B |