Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16174 | chr4 | 41747343 | G | A |
c.429+6C>T
|
-
|
- | 3.0 |
|
B | |
| 31814 | chr4 | 41747479 | C | T |
c.299G>A
|
p.Arg100His
|
3.0 |
|
B | ||
| 2305 | chr4 | 41747542 | G | T |
c.242-6C>A
|
-
|
- | 3.0 |
|
B | |
| 33150 | chr4 | 41748433 | G | T |
c.178C>A
|
p.Leu60Ile
|
- | 3.0 |
|
B | |
| 3905 | chr4 | 41748467 | C | A |
c.144G>T
|
p.Arg48Ser
|
- | 3.0 |
|
B | |
| 18566 | chr4 | 41748568 | C | T |
c.43G>A
|
p.Glu15Lys
|
- | 3.0 |
|
B | |
| 35306 | chr4 | 41748603 | T | G |
c.8A>C
|
p.Lys3Thr
|
- | 3.0 |
|
B | |
| 11125 | chr4 | 46974262 | C | T |
c.691G>A
|
p.Val231Ile
|
3.0 |
|
B | ||
| 3302 | chr4 | 47936826 | TTTGCTCCC | T |
c.1648_1655del
|
p.Gly550SerfsTer10
|
- | 3.0 |
|
B | |
| 24122 | chr4 | 54229515 | GA | G |
c.-13+111del
|
-
|
3.0 |
|
B | ||
| 24123 | chr4 | 54229560 | AT | A |
c.-13+156del
|
-
|
3.0 |
|
B | ||
| 5818 | chr4 | 54230499 | C | T |
c.-13+1084C>T
|
-
|
3.0 |
|
B | ||
| 10685 | chr4 | 54230952 | G | A |
c.-13+1537G>A
|
-
|
- | 3.0 |
|
B | |
| 21745 | chr4 | 54231434 | C | G |
c.-13+2019C>G
|
-
|
- | 3.0 |
|
B | |
| 14752 | chr4 | 54232528 | A | G |
c.-13+3113A>G
|
-
|
- | 3.0 |
|
B | |
| 26667 | chr4 | 54232670 | T | C |
c.-13+3255T>C
|
-
|
3.0 |
|
B | ||
| 10951 | chr4 | 54232678 | A | G |
c.-13+3263A>G
|
-
|
- | 3.0 |
|
B | |
| 13001 | chr4 | 54232795 | T | G |
c.-13+3380T>G
|
-
|
- | 3.0 |
|
B | |
| 23177 | chr4 | 54232868 | A | G |
c.-13+3453A>G
|
-
|
3.0 |
|
B | ||
| 24245 | chr4 | 54233415 | G | T |
c.-13+4000G>T
|
-
|
- | 3.0 |
|
B |