Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8036 | chr6 | 36684244 | G | T |
c.143G>T
|
p.Arg48Leu
|
- | 3.0 |
|
B | |
| 29450 | chr6 | 36684248 | G | A |
c.147G>A
|
p.Trp49Ter
|
- | 4.5 |
|
B | |
| 29452 | chr6 | 36684293 | C | CT |
c.193dup
|
p.Trp65LeufsTer24
|
- | 4.0 |
|
B | |
| 10357 | chr6 | 36684360 | G | A |
c.259G>A
|
p.Asp87Asn
|
- | 3.0 |
|
B | |
| 17017 | chr6 | 36684373 | G | A |
c.272G>A
|
p.Gly91Glu
|
- | 3.0 |
|
B | |
| 1938 | chr6 | 36684465 | C | T |
c.364C>T
|
p.Arg122Cys
|
3.0 |
|
B | ||
| 35202 | chr6 | 36684486 | G | A |
c.385G>A
|
p.Gly129Arg
|
- | 3.0 |
|
B | |
| 7025 | chr6 | 37170578 | G | A |
c.3G>A
|
p.Met1?
|
3.0 |
|
B | ||
| 7026 | chr6 | 37170643 | C | T |
c.68C>T
|
p.Thr23Ile
|
3.0 |
|
B | ||
| 7027 | chr6 | 37170648 | C | G |
c.73C>G
|
p.Leu25Val
|
3.0 |
|
B | ||
| 7028 | chr6 | 37170665 | C | T |
c.82+8C>T
|
-
|
3.0 |
|
B | ||
| 7029 | chr6 | 37170778 | G | A |
c.88G>A
|
p.Glu30Lys
|
3.0 |
|
B | ||
| 7030 | chr6 | 37170807 | G | C |
c.117G>C
|
p.Gln39His
|
3.0 |
|
B | ||
| 7031 | chr6 | 37170880 | G | C |
c.189+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 7032 | chr6 | 37170882 | G | A |
c.189+3G>A
|
-
|
- | 3.0 |
|
B | |
| 7033 | chr6 | 37170973 | G | A |
c.190-8G>A
|
-
|
3.0 |
|
B | ||
| 7034 | chr6 | 37171021 | G | A |
c.230G>A
|
p.Trp77Ter
|
- | 3.0 |
|
B | |
| 7035 | chr6 | 37171029 | C | T |
c.238C>T
|
p.Leu80=
|
3.0 |
|
B | ||
| 7036 | chr6 | 37171125 | C | T |
c.241C>T
|
p.Pro81Ser
|
- | 3.0 |
|
B | |
| 7037 | chr6 | 37171195 | T | C |
c.311T>C
|
p.Ile104Thr
|
- | 3.0 |
|
B |