Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11638 | chr3 | 52406325 | G | GCGGT |
c.707_710dup
-
|
p.Arg238ProfsTer6
-
|
- | 4.0 |
|
B | |
| 27828 | chr3 | 52406343 | C | A |
c.693G>T
-
|
p.Met231Ile
-
|
- | 3.0 |
|
B | |
| 14012 | chr3 | 52406358 | GAT | G |
c.676_677del
-
|
p.Ile226ProfsTer16
-
|
- | 4.0 |
|
B | |
| 2170 | chr3 | 52406369 | AG | A |
c.666del
-
|
p.Tyr223ThrfsTer8
-
|
- | 4.0 |
|
B | |
| 6819 | chr3 | 52406378 | T | C |
c.660-2A>G
-
|
p.?
-
|
4.0 |
|
B | ||
| 28062 | chr3 | 52406378 | T | G |
c.660-2A>C
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 8253 | chr3 | 52406388 | G | A |
c.660-12C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 16358 | chr3 | 52406811 | C | T |
c.659+18G>A
-
|
-
-
|
2.0 |
|
B | ||
| 8238 | chr3 | 52406820 | GGCCCTTA | G |
c.659+2_659+8del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 176 | chr3 | 52406827 | A | C |
c.659+2T>G
-
|
p.?
-
|
4.67 |
|
A | ||
| 33057 | chr3 | 52406827 | A | G |
c.659+2T>C
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 26903 | chr3 | 52406828 | C | T |
c.659+1G>A
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 24360 | chr3 | 52406849 | ACGCTCCATGATGACCCGCCG | A |
c.619_638del
-
|
p.Arg207TyrfsTer29
-
|
- | 4.0 |
|
B | |
| 6485 | chr3 | 52406855 | CAT | C |
c.631_632del
-
|
p.Met211GlyfsTer31
-
|
- | 3.5 |
|
B | |
| 14530 | chr3 | 52406857 | TGATGACCCGCCGGG | T |
c.617_630del
-
|
p.Ala206AspfsTer32
-
|
- | 4.0 |
|
B | |
| 926 | chr3 | 52406862 | ACCCGCCGGGCCTTGT | A |
c.611_625del
-
|
p.Asp204_Arg208del
-
|
- | 3.0 |
|
B | |
| 16359 | chr3 | 52406894 | CT | C |
c.593del
-
|
p.Glu198GlyfsTer33
-
|
- | 4.0 |
|
B | |
| 28161 | chr3 | 52406895 | TC | T |
c.592del
-
|
p.Glu198ArgfsTer33
-
|
4.5 |
|
B | ||
| 18022 | chr3 | 52406900 | C | G |
c.588G>C
-
|
p.Trp196Cys
-
|
2.5 |
|
B | ||
| 31155 | chr3 | 52406900 | C | T |
c.588G>A
-
|
p.Trp196Ter
-
|
- | 4.5 |
|
B |