Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2746 | chr11 | 77379319 | G | T |
c.361C>A
|
p.Pro121Thr
|
- | 3.0 |
|
B | |
| 7914 | chr11 | 77379352 | A | T |
c.328T>A
|
p.Ser110Thr
|
- | 3.5 |
|
B | |
| 29712 | chr11 | 77379362 | C | G |
c.318G>C
|
p.Leu106Phe
|
- | 3.0 |
|
B | |
| 27992 | chr11 | 77379953 | G | T |
c.232C>A
|
p.Pro78Thr
|
- | 3.0 |
|
B | |
| 1367 | chr11 | 77392371 | C | G |
c.150G>C
|
p.Lys50Asn
|
- | 3.0 |
|
B | |
| 10282 | chr11 | 77392377 | C | G |
c.144G>C
|
p.Lys48Asn
|
- | 3.0 |
|
B | |
| 1368 | chr11 | 77392470 | C | T |
c.51G>A
|
p.Met17Ile
|
- | 3.0 |
|
B | |
| 2934 | chr11 | 78073100 | CA | C |
-
c.207del
|
-
p.Phe69LeufsTer7
|
3.0 |
|
B | ||
| 3509 | chr11 | 78196700 | C | T |
c.455C>T
|
p.Pro152Leu
|
- | 3.0 |
|
B | |
| 20071 | chr11 | 78209809 | AC | A |
c.1962del
|
p.Thr655ProfsTer23
|
3.0 |
|
B | ||
| 20376 | chr11 | 85959064 | GA | G |
c.1945-5del
|
-
|
3.0 |
|
B | ||
| 26451 | chr11 | 85974788 | C | A |
c.1864G>T
|
p.Val622Leu
|
- | 3.0 |
|
B | |
| 28108 | chr11 | 85981734 | T | G |
c.1679+11A>C
|
-
|
- | 3.0 |
|
B | |
| 29445 | chr11 | 85981919 | T | A |
c.1601A>T
|
p.Lys534Met
|
- | 3.0 |
|
B | |
| 19706 | chr11 | 85983851 | AT | A |
c.1516+14del
|
-
|
3.0 |
|
B | ||
| 22625 | chr11 | 85990250 | C | T |
c.1408G>A
|
p.Gly470Arg
|
- | 3.0 |
|
B | |
| 34033 | chr11 | 86012345 | C | A |
c.594G>T
|
p.Met198Ile
|
- | 3.0 |
|
B | |
| 15299 | chr11 | 86022389 | C | T |
c.430G>A
|
p.Asp144Asn
|
3.0 |
|
B | ||
| 32286 | chr11 | 86068690 | T | A |
c.91A>T
|
p.Thr31Ser
|
- | 3.0 |
|
B | |
| 16060 | chr11 | 86068741 | G | A |
c.40C>T
|
p.Gln14Ter
|
- | 3.0 |
|
B |