Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7133 | chr16 | 10180314 | G | A |
c.98C>T
|
p.Ala33Val
|
3.0 |
|
B | ||
| 9259 | chr16 | 10180321 | G | T |
c.91C>A
|
p.Pro31Thr
|
3.0 |
|
B | ||
| 20578 | chr16 | 10180350 | G | A |
c.62C>T
|
p.Pro21Leu
|
2.5 |
|
B | ||
| 19757 | chr16 | 10773345 | TA | T |
-
c.420del
|
-
p.Phe140LeufsTer7
|
3.0 |
|
B | ||
| 33124 | chr16 | 10877335 | G | A |
c.5G>A
|
p.Arg2His
|
3.0 |
|
B | ||
| 33776 | chr16 | 10877349 | C | T |
c.19C>T
|
p.Arg7Cys
|
3.0 |
|
B | ||
| 26894 | chr16 | 10877394 | G | T |
c.52+12G>T
|
-
|
3.0 |
|
B | ||
| 25955 | chr16 | 10895652 | G | A |
c.200-17G>A
|
-
|
- | 3.0 |
|
B | |
| 32467 | chr16 | 10895664 | C | T |
c.200-5C>T
|
-
|
2.0 |
|
B | ||
| 23021 | chr16 | 10895764 | G | A |
c.295G>A
|
p.Ala99Thr
|
3.5 |
|
B | ||
| 29902 | chr16 | 10898934 | G | A |
c.368G>A
|
p.Gly123Glu
|
- | 3.0 |
|
B | |
| 17377 | chr16 | 10901506 | C | T |
c.437-8C>T
|
-
|
- | 3.0 |
|
B | |
| 30439 | chr16 | 10902029 | T | G |
c.482-9T>G
|
-
|
- | 3.0 |
|
B | |
| 12527 | chr16 | 10902039 | T | G |
c.483T>G
|
p.Ala161=
|
- | 3.0 |
|
B | |
| 31733 | chr16 | 10904771 | C | T |
c.965C>T
|
p.Pro322Leu
|
3.0 |
|
B | ||
| 13444 | chr16 | 10907080 | G | A |
c.1588G>A
|
p.Ala530Thr
|
- | 3.0 |
|
B | |
| 16487 | chr16 | 10907375 | G | A |
c.1883G>A
|
p.Gly628Glu
|
- | 3.0 |
|
B | |
| 33858 | chr16 | 10907432 | G | A |
c.1940G>A
|
p.Arg647His
|
3.0 |
|
B | ||
| 16616 | chr16 | 10907728 | C | T |
c.2236C>T
|
p.Pro746Ser
|
- | 3.0 |
|
B | |
| 27184 | chr16 | 10907951 | G | A |
c.2459G>A
|
p.Gly820Glu
|
- | 3.0 |
|
B |