Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27028 | chr20 | 9565928 | G | A |
c.1447C>T
|
p.Arg483Trp
|
3.0 |
|
B | ||
| 16959 | chr20 | 9565967 | G | A |
c.1408C>T
|
p.His470Tyr
|
3.0 |
|
B | ||
| 20846 | chr20 | 9566078 | G | A |
c.1297C>T
|
p.Arg433Trp
|
3.0 |
|
B | ||
| 9289 | chr20 | 9566101 | G | A |
c.1274C>T
|
p.Ser425Phe
|
- | 3.0 |
|
B | |
| 5051 | chr20 | 9566116 | G | A |
c.1259C>T
|
p.Ser420Phe
|
- | 3.0 |
|
B | |
| 20515 | chr20 | 9566140 | G | A |
c.1235C>T
|
p.Pro412Leu
|
- | 3.0 |
|
B | |
| 5841 | chr20 | 9566167 | G | A |
c.1208C>T
|
p.Ser403Phe
|
3.0 |
|
B | ||
| 4095 | chr20 | 9566200 | G | A |
c.1175C>T
|
p.Ser392Leu
|
3.0 |
|
B | ||
| 5640 | chr20 | 9580149 | G | A |
c.986C>T
|
p.Pro329Leu
|
3.0 |
|
B | ||
| 11452 | chr20 | 9580168 | C | T |
c.967G>A
|
p.Glu323Lys
|
3.0 |
|
B | ||
| 22583 | chr20 | 9580177 | G | A |
c.958C>T
|
p.Arg320Cys
|
3.0 |
|
B | ||
| 4213 | chr20 | 9580255 | C | T |
c.880G>A
|
p.Glu294Lys
|
2.0 |
|
B | ||
| 4221 | chr20 | 9580323 | G | A |
c.812C>T
|
p.Ser271Leu
|
3.0 |
|
B | ||
| 917 | chr20 | 9580414 | C | T |
c.721G>A
|
p.Gly241Arg
|
3.0 |
|
B | ||
| 30253 | chr20 | 9580443 | G | A |
c.692C>T
|
p.Ser231Leu
|
- | 3.0 |
|
B | |
| 5038 | chr20 | 9580537 | G | A |
c.598C>T
|
p.His200Tyr
|
- | 3.0 |
|
B | |
| 34494 | chr20 | 9580548 | G | A |
c.587C>T
|
p.Ser196Phe
|
- | 3.0 |
|
B | |
| 23735 | chr20 | 9580564 | C | T |
c.571G>A
|
p.Asp191Asn
|
- | 3.0 |
|
B | |
| 3903 | chr20 | 9580616 | C | T |
c.519G>A
|
p.Met173Ile
|
3.0 |
|
B | ||
| 34656 | chr20 | 9580696 | T | A |
c.439A>T
|
p.Arg147Trp
|
- | 3.0 |
|
B |