Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25523 | chr3 | 52409548 | A | C |
c.122+6T>G
-
|
-
-
|
- | 3.5 |
|
B | |
| 2264 | chr3 | 52409552 | AC | A |
c.122+1del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 14639 | chr3 | 52409555 | C | T |
c.121G>A
-
|
p.Gly41Ser
-
|
2.0 |
|
B | ||
| 33562 | chr3 | 52409570 | G | A |
c.106C>T
-
|
p.Gln36Ter
-
|
- | 4.5 |
|
B | |
| 31480 | chr3 | 52409585 | C | A |
c.91G>T
-
|
p.Glu31Ter
-
|
- | 4.0 |
|
B | |
| 28670 | chr3 | 52409609 | C | T |
c.68-1G>A
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 10781 | chr3 | 52409698 | G | A |
c.67+16C>T
-
|
-
-
|
2.0 |
|
B | ||
| 31114 | chr3 | 52409713 | C | G |
c.67+1G>C
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 9415 | chr3 | 52409826 | C | T |
c.37+16G>A
-
|
-
-
|
2.0 |
|
B | ||
| 27819 | chr3 | 52409830 | TC | T |
c.37+11del
-
|
-
-
|
- | 3.0 |
|
B | |
| 27818 | chr3 | 52409839 | CACCTGGG | C |
c.33_37+2del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 3192 | chr3 | 52548211 | G | A |
c.4967C>T
|
p.Ser1656Leu
|
3.0 |
|
B | ||
| 30845 | chr3 | 52550498 | G | C |
c.4865C>G
|
p.Ser1622Ter
|
- | 3.5 |
|
B | |
| 15325 | chr3 | 52550640 | G | C |
c.4726-3C>G
|
-
|
- | 3.5 |
|
B | |
| 16935 | chr3 | 52550749 | GTTGTCCA | G |
c.4716_4722del
|
p.Gly1573ArgfsTer36
|
- | 4.0 |
|
B | |
| 9590 | chr3 | 52550818 | C | G |
c.4655-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 20525 | chr3 | 52554835 | G | A |
c.4543C>T
|
p.Pro1515Ser
|
- | 3.0 |
|
B | |
| 18252 | chr3 | 52558255 | C | T |
c.4492G>A
|
p.Val1498Ile
|
- | 3.0 |
|
B | |
| 4923 | chr3 | 52558300 | G | C |
c.4447C>G
|
p.Pro1483Ala
|
- | 3.0 |
|
B | |
| 21850 | chr3 | 52561827 | T | G |
c.4273A>C
|
p.Ser1425Arg
|
- | 3.0 |
|
B |