Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16821 | chr16 | 31133225 | C | T |
-
c.266+1G>A
|
-
p.?
|
- | 3.0 |
|
B | |
| 30538 | chr16 | 31133331 | C | T |
-
c.161G>A
|
-
p.Gly54Asp
|
3.0 |
|
B | ||
| 24823 | chr16 | 31135438 | G | C |
-
-
c.61C>G
|
-
-
p.Leu21Val
|
- | 3.0 |
|
B | |
| 33216 | chr16 | 31140533 | G | C |
c.2126C>G
-
|
p.Ala709Gly
-
|
- | 3.0 |
|
B | |
| 20150 | chr16 | 31182638 | ATTC | A |
c.170_172del
|
p.Ser57del
|
2.0 |
|
B | ||
| 34637 | chr16 | 31182654 | G | T |
c.180G>T
|
p.Gln60His
|
- | 3.0 |
|
B | |
| 12469 | chr16 | 31182678 | A | C |
c.190+14A>C
|
-
|
- | 3.0 |
|
B | |
| 26256 | chr16 | 31184283 | GTGGACAGCAGCAAAGCTA | G |
c.430_447del
|
p.Gly144_Tyr149del
|
3.5 |
|
B | ||
| 13280 | chr16 | 31185069 | G | T |
c.654G>T
|
p.Arg218Ser
|
- | 3.0 |
|
B | |
| 26286 | chr16 | 31185085 | G | A |
c.670G>A
|
p.Gly224Ser
|
3.0 |
|
B | ||
| 28667 | chr16 | 31188330 | C | G |
c.805C>G
|
p.Arg269Gly
|
- | 3.0 |
|
B | |
| 14138 | chr16 | 31189809 | G | A |
c.1066+15G>A
|
-
|
- | 3.0 |
|
B | |
| 35660 | chr16 | 31190959 | C | T |
c.1394-4C>T
|
-
|
- | 3.0 |
|
B | |
| 15835 | chr16 | 31190964 | G | A |
c.1395G>A
|
p.Gly465=
|
- | 3.5 |
|
B | |
| 17809 | chr16 | 31191418 | C | T |
c.1561C>T
|
p.Arg521Cys
|
3.0 |
|
B | ||
| 5214 | chr16 | 46584085 | G | A |
c.1469C>T
|
p.Ala490Val
|
3.0 |
|
B | ||
| 4856 | chr16 | 46906967 | G | A |
c.568G>A
|
p.Gly190Ser
|
3.0 |
|
B | ||
| 5745 | chr16 | 47665953 | G | C |
c.2427+978G>C
|
-
|
3.0 |
|
B | ||
| 4857 | chr16 | 48205464 | C | T |
c.1754G>A
|
p.Ser585Asn
|
- | 3.0 |
|
B | |
| 26372 | chr16 | 50750134 | G | A |
c.436G>A
|
p.Val146Ile
|
- | 3.0 |
|
B |