Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29814 | chr3 | 48681784 | C | T |
c.599-4G>A
|
-
|
3.0 |
|
B | ||
| 34575 | chr3 | 48682338 | C | G |
c.486+10G>C
|
-
|
- | 3.0 |
|
B | |
| 15878 | chr3 | 48682415 | G | A |
c.419C>T
|
p.Ala140Val
|
- | 3.0 |
|
B | |
| 29459 | chr3 | 48683014 | T | TG |
c.172-3dup
-
|
-
-
|
3.0 |
|
B | ||
| 19409 | chr3 | 48683014 | TG | T |
c.172-3del
-
|
-
-
|
3.0 |
|
B | ||
| 14868 | chr3 | 48683015 | G | A |
c.172-3C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 16317 | chr3 | 48685621 | G | A |
c.171+16C>T
-
|
-
-
|
3.0 |
|
B | ||
| 5159 | chr3 | 49012210 | AC | A |
c.677del
-
|
p.Thr226LysfsTer42
-
|
- | 3.0 |
|
B | |
| 31553 | chr3 | 49358049 | G | C |
c.230C>G
-
|
p.Pro77Arg
-
|
3.0 |
|
B | ||
| 6632 | chr3 | 49360270 | G | C |
-
c.521C>G
|
-
p.Ala174Gly
|
- | 3.0 |
|
B | |
| 10654 | chr3 | 49360277 | C | T |
-
c.514G>A
|
-
p.Glu172Lys
|
- | 3.0 |
|
B | |
| 1935 | chr3 | 49360367 | C | T |
-
c.424G>A
|
-
p.Glu142Lys
|
- | 3.0 |
|
B | |
| 19410 | chr3 | 49360391 | GA | G |
-
c.409-10del
|
-
-
|
3.0 |
|
B | ||
| 35101 | chr3 | 49360917 | C | T |
-
c.409-535G>A
|
-
-
|
- | 3.0 |
|
B | |
| 35266 | chr3 | 49360925 | C | T |
-
c.409-543G>A
|
-
-
|
- | 3.0 |
|
B | |
| 28508 | chr3 | 49360946 | G | A |
-
c.409-564C>T
|
-
-
|
3.0 |
|
B | ||
| 27929 | chr3 | 49360954 | C | T |
-
c.409-572G>A
|
-
-
|
3.0 |
|
B | ||
| 33148 | chr3 | 49360966 | A | G |
-
c.409-584T>C
|
-
-
|
3.0 |
|
B | ||
| 13162 | chr3 | 49360982 | G | A |
-
c.409-600C>T
|
-
-
|
3.0 |
|
B | ||
| 31599 | chr3 | 49361015 | GT | G |
-
c.409-634del
|
-
-
|
- | 3.0 |
|
B |