Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33000 | chr11 | 49206182 | AC | A |
c.119-11del
|
-
|
- | 3.0 |
|
B | |
| 15479 | chr11 | 49208277 | G | A |
c.118+15C>T
|
-
|
- | 3.0 |
|
B | |
| 23508 | chr11 | 49208287 | C | G |
c.118+5G>C
|
-
|
3.0 |
|
B | ||
| 18670 | chr11 | 49208381 | G | A |
c.29C>T
|
p.Ser10Leu
|
3.0 |
|
B | ||
| 4447 | chr11 | 55773943 | C | T |
c.506C>T
|
p.Ser169Leu
|
- | 3.0 |
|
B | |
| 3539 | chr11 | 55796070 | G | A |
c.515G>A
|
p.Gly172Glu
|
- | 3.0 |
|
B | |
| 9911 | chr11 | 55886133 | TA | T |
c.430del
|
p.Met144CysfsTer15
|
3.0 |
|
B | ||
| 3442 | chr11 | 56030807 | T | G |
c.389T>G
|
p.Leu130Arg
|
- | 3.0 |
|
B | |
| 16985 | chr11 | 57326460 | GTTC | G |
-
c.2074_2076del
|
-
p.Glu692del
|
3.0 |
|
B | ||
| 13239 | chr11 | 57330306 | A | G |
c.1420T>C
|
p.Ser474Pro
|
- | 3.0 |
|
B | |
| 9913 | chr11 | 57331678 | T | C |
c.1213A>G
|
p.Ser405Gly
|
- | 3.0 |
|
B | |
| 26574 | chr11 | 57332634 | C | T |
c.759G>A
|
p.Met253Ile
|
- | 3.0 |
|
B | |
| 27766 | chr11 | 57332698 | T | C |
c.695A>G
|
p.Tyr232Cys
|
3.0 |
|
B | ||
| 33921 | chr11 | 57332806 | C | T |
c.587G>A
|
p.Gly196Glu
|
- | 3.0 |
|
B | |
| 33499 | chr11 | 57333005 | C | A |
c.491G>T
|
p.Arg164Leu
|
- | 3.0 |
|
B | |
| 34614 | chr11 | 57333514 | GA | G |
c.266del
-
|
p.Phe89SerfsTer9
-
|
- | 3.0 |
|
B | |
| 32652 | chr11 | 57657093 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 32581 | chr11 | 57659475 | A | T |
c.-2A>T
|
-
|
- | 3.0 |
|
B | |
| 18319 | chr11 | 57659961 | C | T |
c.485C>T
|
p.Thr162Ile
|
3.0 |
|
B | ||
| 25529 | chr11 | 57660053 | C | A |
c.577C>A
|
p.Pro193Thr
|
- | 3.0 |
|
B |