Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26660 | chr11 | 128772928 | G | C |
c.532G>C
|
p.Ala178Pro
|
- | 3.0 |
|
B | |
| 6256 | chr11 | 128781969 | G | A |
c.601G>A
|
p.Ala201Thr
|
3.0 |
|
B | ||
| 5368 | chr11 | 128805387 | G | T |
c.677G>T
|
p.Arg226Ile
|
- | 3.0 |
|
B | |
| 9381 | chr11 | 128810564 | C | T |
c.935C>T
|
p.Thr312Met
|
3.0 |
|
B | ||
| 23513 | chr11 | 128810642 | C | G |
c.1013C>G
|
p.Ala338Gly
|
- | 3.0 |
|
B | |
| 9525 | chr11 | 128810648 | G | T |
c.1019G>T
|
p.Arg340Leu
|
- | 3.0 |
|
B | |
| 32989 | chr11 | 128810686 | G | A |
c.1057G>A
|
p.Gly353Ser
|
3.0 |
|
B | ||
| 18321 | chr11 | 128911373 | C | T |
c.100C>T
|
p.Pro34Ser
|
- | 3.0 |
|
B | |
| 10060 | chr11 | 128911427 | C | T |
c.154C>T
|
p.Arg52Cys
|
3.0 |
|
B | ||
| 20611 | chr11 | 128911622 | G | A |
c.349G>A
|
p.Asp117Asn
|
3.0 |
|
B | ||
| 31782 | chr11 | 128911655 | C | A |
c.382C>A
|
p.Pro128Thr
|
- | 3.0 |
|
B | |
| 6718 | chr11 | 128911688 | G | A |
c.415G>A
|
p.Ala139Thr
|
2.5 |
|
B | ||
| 31783 | chr11 | 128911855 | G | C |
c.582G>C
|
p.Lys194Asn
|
- | 3.0 |
|
B | |
| 30861 | chr11 | 128911881 | C | T |
c.608C>T
|
p.Ser203Phe
|
- | 3.0 |
|
B | |
| 32502 | chr11 | 128911904 | C | T |
c.631C>T
|
p.Arg211Trp
|
3.0 |
|
B | ||
| 6816 | chr11 | 128911997 | C | T |
c.724C>T
|
p.Arg242Trp
|
2.5 |
|
B | ||
| 8670 | chr11 | 128912039 | G | T |
c.766G>T
|
p.Asp256Tyr
|
- | 3.0 |
|
B | |
| 28172 | chr11 | 128912093 | C | A |
c.820C>A
|
p.Leu274Met
|
- | 3.0 |
|
B | |
| 5705 | chr11 | 128912193 | G | T |
c.920G>T
|
p.Gly307Val
|
- | 3.0 |
|
B | |
| 2747 | chr11 | 128916581 | G | A |
c.1110G>A
|
p.Met370Ile
|
- | 3.0 |
|
B |