Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14369 | chr11 | 3018739 | T | C |
c.1406A>G
|
p.Glu469Gly
|
- | 3.0 |
|
B | |
| 18402 | chr11 | 3019209 | G | A |
c.1325C>T
|
p.Ser442Leu
|
3.0 |
|
B | ||
| 27322 | chr11 | 3020342 | C | T |
c.1154-10G>A
|
-
|
2.5 |
|
B | ||
| 16779 | chr11 | 3029314 | C | T |
c.931G>A
|
p.Glu311Lys
|
- | 3.0 |
|
B | |
| 14210 | chr11 | 3038174 | G | A |
c.677C>T
|
p.Thr226Ile
|
- | 3.0 |
|
B | |
| 28997 | chr11 | 3039895 | C | G |
c.492G>C
|
p.Leu164Phe
|
- | 3.0 |
|
B | |
| 15492 | chr11 | 3040890 | A | T |
c.455+6T>A
|
-
|
3.0 |
|
B | ||
| 28371 | chr11 | 3047841 | C | A |
c.186G>T
|
p.Gln62His
|
- | 3.0 |
|
B | |
| 8387 | chr11 | 3676524 | G | A |
c.5170C>T
|
p.Arg1724Cys
|
3.0 |
|
B | ||
| 13790 | chr11 | 3695583 | AAAG | A |
c.4030_4032del
|
p.Leu1345del
|
- | 3.0 |
|
B | |
| 2148 | chr11 | 3699187 | C | A |
c.3904G>T
|
p.Glu1302Ter
|
- | 3.0 |
|
B | |
| 6708 | chr11 | 3699192 | TGA | T |
c.3897_3898del
|
p.Gln1300AspfsTer2
|
- | 3.0 |
|
B | |
| 10712 | chr11 | 3700682 | G | C |
c.3670C>G
|
p.Leu1224Val
|
- | 3.0 |
|
B | |
| 16929 | chr11 | 3702521 | G | A |
c.3454C>T
|
p.His1152Tyr
|
3.0 |
|
B | ||
| 13738 | chr11 | 3702569 | G | C |
c.3406C>G
|
p.Leu1136Val
|
3.0 |
|
B | ||
| 20840 | chr11 | 3702573 | C | G |
c.3402G>C
|
p.Trp1134Cys
|
- | 3.0 |
|
B | |
| 15714 | chr11 | 3702811 | C | A |
c.3164G>T
|
p.Arg1055Ile
|
- | 3.0 |
|
B | |
| 24184 | chr11 | 3705343 | G | C |
c.2939C>G
|
p.Ser980Ter
|
- | 3.0 |
|
B | |
| 18240 | chr11 | 3706615 | C | T |
c.2755G>A
|
p.Glu919Lys
|
3.0 |
|
B | ||
| 27156 | chr11 | 3713831 | G | A |
c.2564C>T
|
p.Ser855Phe
|
- | 3.0 |
|
B |