Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5902 | chr3 | 185473315 | G | C |
c.1984G>C
|
p.Asp662His
|
- | 3.0 |
|
B | |
| 16708 | chr3 | 185473408 | G | A |
c.2077G>A
|
p.Gly693Ser
|
3.0 |
|
B | ||
| 5901 | chr3 | 185473457 | G | C |
c.2126G>C
|
p.Arg709Thr
|
- | 3.0 |
|
B | |
| 27313 | chr3 | 185473678 | G | A |
c.2347G>A
|
p.Gly783Ser
|
3.0 |
|
B | ||
| 33236 | chr3 | 185473761 | G | A |
c.2430G>A
|
p.Lys810=
|
- | 3.5 |
|
B | |
| 32945 | chr3 | 185473777 | G | T |
c.2430+16G>T
|
-
|
- | 3.0 |
|
B | |
| 25567 | chr3 | 185480485 | C | G |
c.2755C>G
|
p.Gln919Glu
|
- | 3.0 |
|
B | |
| 34415 | chr3 | 185645634 | G | T |
c.1708-11C>A
|
-
|
- | 3.0 |
|
B | |
| 14640 | chr3 | 185647069 | C | A |
c.1663G>T
|
p.Glu555Ter
|
- | 4.0 |
|
B | |
| 34251 | chr3 | 185652080 | C | T |
c.1461+14G>A
|
-
|
- | 3.0 |
|
B | |
| 25181 | chr3 | 185657300 | C | A |
c.1372G>T
|
p.Gly458Ter
|
4.0 |
|
B | ||
| 29330 | chr3 | 185675431 | A | T |
c.936T>A
|
p.Ser312=
|
- | 3.0 |
|
B | |
| 14281 | chr3 | 185675793 | T | G |
c.933A>C
|
p.Ser311=
|
- | 3.5 |
|
B | |
| 21852 | chr3 | 185675835 | C | G |
c.891G>C
|
p.Leu297Phe
|
- | 3.0 |
|
B | |
| 32365 | chr3 | 185687197 | G | A |
c.678-6C>T
|
-
|
3.0 |
|
B | ||
| 21856 | chr3 | 185823213 | C | T |
c.179G>A
|
p.Gly60Asp
|
- | 3.0 |
|
B | |
| 9613 | chr3 | 186048784 | T | A |
c.1388A>T
|
p.Gln463Leu
|
- | 3.0 |
|
B | |
| 9762 | chr3 | 186048824 | CA | C |
c.1347del
|
p.Cys449TrpfsTer19
|
- | 3.0 |
|
B | |
| 32895 | chr3 | 186048827 | A | G |
c.1345T>C
|
p.Cys449Arg
|
- | 3.0 |
|
B | |
| 2663 | chr3 | 186048832 | A | G |
c.1340T>C
|
p.Phe447Ser
|
- | 3.0 |
|
B |