Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17116 | chr4 | 76003618 | G | A |
c.358C>T
|
p.Arg120Cys
|
3.0 |
|
B | ||
| 3528 | chr4 | 76741757 | G | A |
c.3584G>A
|
p.Gly1195Glu
|
3.0 |
|
B | ||
| 3392 | chr4 | 80054304 | C | T |
c.604G>A
|
p.Gly202Arg
|
- | 3.0 |
|
B | |
| 15872 | chr4 | 80266826 | T | G |
c.2T>G
|
p.Met1?
|
- | 3.0 |
|
B | |
| 25915 | chr4 | 80266980 | C | T |
c.156C>T
|
p.Ser52=
|
- | 3.0 |
|
B | |
| 28979 | chr4 | 80286409 | G | GA |
c.550dup
|
p.Thr184AsnfsTer11
|
3.0 |
|
B | ||
| 16070 | chr4 | 80286452 | G | A |
c.587G>A
|
p.Gly196Glu
|
- | 3.0 |
|
B | |
| 24547 | chr4 | 80286455 | A | T |
c.590A>T
|
p.Lys197Ile
|
- | 3.0 |
|
B | |
| 17514 | chr4 | 82864411 | AT | A |
c.1384del
|
p.Ile462LeufsTer16
|
3.0 |
|
B | ||
| 19437 | chr4 | 82864411 | ATT | A |
c.1383_1384del
|
p.Lys461AsnfsTer2
|
- | 3.0 |
|
B | |
| 35102 | chr4 | 83462558 | T | TTA |
c.1140_1141insTA
-
|
p.Lys381Ter
-
|
- | 3.5 |
|
B | |
| 14744 | chr4 | 83462873 | C | T |
c.826G>A
-
|
p.Glu276Lys
-
|
- | 3.0 |
|
B | |
| 8093 | chr4 | 83463481 | GTTGTTTACTTAC | G |
c.796+1_796+12del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 19438 | chr4 | 83467468 | G | A |
c.667C>T
|
p.Gln223Ter
|
- | 3.5 |
|
B | |
| 16716 | chr4 | 83469114 | C | T |
c.514G>A
|
p.Gly172Ser
|
3.0 |
|
B | ||
| 33349 | chr4 | 83480272 | C | T |
c.178+1882G>A
|
-
|
3.0 |
|
B | ||
| 34580 | chr4 | 83480304 | A | G |
c.178+1850T>C
|
-
|
- | 3.0 |
|
B | |
| 24958 | chr4 | 83485056 | G | T |
c.17C>A
|
p.Thr6Lys
|
- | 3.0 |
|
B | |
| 34059 | chr4 | 83485065 | C | T |
c.8G>A
|
p.Gly3Glu
|
3.0 |
|
B | ||
| 4355 | chr4 | 88462134 | G | A |
c.467-1G>A
|
p.?
|
- | 3.0 |
|
B |