Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30913 | chr3 | 48581480 | G | A |
c.4786C>T
|
p.Pro1596Ser
|
- | 3.0 |
|
B | |
| 30914 | chr3 | 48581486 | G | A |
c.4783-3C>T
|
-
|
- | 3.0 |
|
B | |
| 22852 | chr3 | 48581492 | G | A |
c.4783-9C>T
|
-
|
- | 2.0 |
|
B | |
| 30915 | chr3 | 48581496 | G | C |
c.4783-13C>G
|
-
|
- | 3.0 |
|
B | |
| 23260 | chr3 | 48581575 | G | A |
c.4780C>T
|
p.Arg1594Trp
|
3.0 |
|
B | ||
| 2734 | chr3 | 48581910 | C | A |
c.4668+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 18289 | chr3 | 48583594 | G | A |
c.4363C>T
|
p.Pro1455Ser
|
- | 3.0 |
|
B | |
| 30177 | chr3 | 48583713 | C | T |
c.4341+5G>A
|
-
|
3.0 |
|
B | ||
| 17251 | chr3 | 48583738 | G | A |
c.4321C>T
|
p.Pro1441Ser
|
3.0 |
|
B | ||
| 7382 | chr3 | 48583747 | C | T |
c.4312G>A
|
p.Val1438Ile
|
2.0 |
|
B | ||
| 11311 | chr3 | 48584080 | C | T |
c.4198-19G>A
|
-
|
2.0 |
|
B | ||
| 17567 | chr3 | 48584326 | G | A |
c.4169C>T
|
p.Pro1390Leu
|
- | 3.0 |
|
B | |
| 34987 | chr3 | 48584484 | C | A |
c.4119+1G>T
|
p.?
|
3.0 |
|
B | ||
| 8035 | chr3 | 48584507 | C | T |
c.4097G>A
|
p.Arg1366Gln
|
2.5 |
|
B | ||
| 11986 | chr3 | 48584535 | C | T |
c.4069G>A
|
p.Gly1357Arg
|
2.0 |
|
B | ||
| 20524 | chr3 | 48584754 | G | A |
c.4027C>T
|
p.Arg1343Ter
|
3.0 |
|
B | ||
| 27866 | chr3 | 48585738 | G | A |
c.3787-4C>T
|
-
|
- | 3.0 |
|
B | |
| 28105 | chr3 | 48585965 | TCTGGCCGGGG | T |
c.3724_3733del
|
p.Pro1242SerfsTer20
|
- | 3.0 |
|
B | |
| 12632 | chr3 | 48585973 | G | A |
c.3726C>T
|
p.Pro1242=
|
2.5 |
|
B | ||
| 10408 | chr3 | 48586116 | A | T |
c.3681T>A
|
p.Ser1227Arg
|
- | 3.0 |
|
B |