Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32884 | chr4 | 152324259 | G | A |
c.1780C>T
|
p.Leu594Phe
|
- | 3.0 |
|
B | |
| 206 | chr4 | 152324294 | G | A |
c.1745C>T
|
p.Ser582Leu
|
- | 3.67 |
|
A | |
| 2929 | chr4 | 152324341 | C | G |
c.1698G>C
|
p.Trp566Cys
|
- | 3.0 |
|
B | |
| 21887 | chr4 | 152324361 | C | T |
c.1678G>A
|
p.Asp560Asn
|
- | 3.5 |
|
B | |
| 18444 | chr4 | 152324364 | GA | G |
c.1674del
|
p.Asp560IlefsTer18
|
- | 4.0 |
|
B | |
| 4197 | chr4 | 152324387 | CCA | C |
c.1650_1651del
|
p.Asp550GlufsTer10
|
- | 4.0 |
|
B | |
| 17750 | chr4 | 152326016 | T | C |
c.1634A>G
|
p.Tyr545Cys
|
3.0 |
|
B | ||
| 27641 | chr4 | 152326094 | TA | T |
c.1555del
|
p.Tyr519MetfsTer5
|
- | 4.0 |
|
B | |
| 7625 | chr4 | 152326122 | C | G |
c.1528G>C
|
p.Asp510His
|
- | 3.0 |
|
B | |
| 207 | chr4 | 152326137 | G | A |
c.1513C>T
|
p.Arg505Cys
|
4.33 |
|
A | ||
| 1631 | chr4 | 152326137 | G | C |
c.1513C>G
|
p.Arg505Gly
|
3.5 |
|
B | ||
| 689 | chr4 | 152326137 | G | T |
c.1513C>A
|
p.Arg505Ser
|
3.5 |
|
B | ||
| 34060 | chr4 | 152326150 | A | C |
c.1500T>G
|
p.His500Gln
|
- | 3.0 |
|
B | |
| 7626 | chr4 | 152326214 | C | G |
c.1436G>C
|
p.Arg479Pro
|
3.5 |
|
B | ||
| 208 | chr4 | 152326214 | C | T |
c.1436G>A
|
p.Arg479Gln
|
4.33 |
|
A | ||
| 24026 | chr4 | 152326215 | G | A |
c.1435C>T
|
p.Arg479Ter
|
- | 4.0 |
|
B | |
| 33902 | chr4 | 152326221 | C | G |
c.1429G>C
|
p.Gly477Arg
|
- | 3.0 |
|
B | |
| 9467 | chr4 | 152326221 | C | T |
c.1429G>A
|
p.Gly477Ser
|
- | 3.0 |
|
B | |
| 26851 | chr4 | 152328229 | C | A |
c.1397G>T
|
p.Cys466Phe
|
- | 3.0 |
|
B | |
| 209 | chr4 | 152328232 | C | T |
c.1394G>A
|
p.Arg465His
|
4.33 |
|
A |