Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24348 | chr4 | 40120055 | GA | G |
c.1946del
|
p.Asn649MetfsTer10
|
4.0 |
|
B | ||
| 28519 | chr4 | 40120267 | C | G |
c.2156C>G
|
p.Ser719Cys
|
3.0 |
|
B | ||
| 32320 | chr4 | 40120537 | A | T |
c.2426A>T
|
p.Lys809Ile
|
- | 3.0 |
|
B | |
| 28520 | chr4 | 40120578 | C | A |
c.2467C>A
|
p.Gln823Lys
|
- | 3.5 |
|
B | |
| 20935 | chr4 | 40120723 | A | G |
c.2612A>G
|
p.Tyr871Cys
|
- | 3.0 |
|
B | |
| 29552 | chr4 | 40121915 | C | A |
c.3804C>A
|
p.Asn1268Lys
|
- | 3.0 |
|
B | |
| 20664 | chr4 | 40122255 | C | T |
c.4144C>T
|
p.Pro1382Ser
|
- | 3.0 |
|
B | |
| 33721 | chr4 | 40122273 | C | G |
c.4162C>G
|
p.Leu1388Val
|
- | 3.0 |
|
B | |
| 23608 | chr4 | 40124142 | C | A |
c.4285-18C>A
|
-
|
3.0 |
|
B | ||
| 17862 | chr4 | 40142828 | GA | G |
c.4949del
|
p.Asn1650MetfsTer17
|
4.0 |
|
B | ||
| 17700 | chr4 | 41745842 | C | T |
c.910G>A
|
p.Ala304Thr
|
3.0 |
|
B | ||
| 1210 | chr4 | 41745845 | C | A |
c.907G>T
|
p.Gly303Cys
|
- | 3.0 |
|
B | |
| 8345 | chr4 | 41746010 | C | T |
c.742G>A
|
p.Ala248Thr
|
- | 3.0 |
|
B | |
| 8346 | chr4 | 41746018 | G | A |
c.734C>T
|
p.Ala245Val
|
3.0 |
|
B | ||
| 23557 | chr4 | 41746078 | CCCGGAGCTCCAGCCGGGCTGGGCCCGCCGCCGCCGCCT | C |
c.636_673del
|
p.Gly216AlafsTer131
|
- | 4.0 |
|
B | |
| 10147 | chr4 | 41746127 | C | A |
c.625G>T
|
p.Gly209Trp
|
- | 3.0 |
|
B | |
| 1963 | chr4 | 41746142 | G | C |
c.610C>G
|
p.Pro204Ala
|
3.0 |
|
B | ||
| 2561 | chr4 | 41746216 | G | A |
c.536C>T
|
p.Ser179Phe
|
- | 3.0 |
|
B | |
| 5329 | chr4 | 41746304 | G | T |
c.448C>A
|
p.Arg150Ser
|
- | 3.0 |
|
B | |
| 22224 | chr4 | 41746334 | C | T |
c.430-12G>A
|
-
|
2.0 |
|
B |