Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31741 | chr1 | 16134529 | C | T |
c.1621G>A
|
p.Val541Met
|
1.5 |
|
B | ||
| 16665 | chr1 | 16134562 | C | T |
c.1588G>A
|
p.Glu530Lys
|
- | 3.0 |
|
B | |
| 29482 | chr1 | 16135075 | G | A |
c.1543C>T
|
p.Gln515Ter
|
3.0 |
|
B | ||
| 26208 | chr1 | 16135205 | C | T |
c.1429-16G>A
|
-
|
- | 3.0 |
|
B | |
| 29881 | chr1 | 16135648 | G | A |
c.1428+7C>T
|
-
|
3.0 |
|
B | ||
| 8161 | chr1 | 16135659 | TTGCGG | T |
c.1419_1423del
|
p.Tyr473Ter
|
- | 3.0 |
|
B | |
| 9157 | chr1 | 16135675 | C | T |
c.1408G>A
|
p.Glu470Lys
|
3.0 |
|
B | ||
| 5052 | chr1 | 16135689 | C | A |
c.1394G>T
|
p.Arg465Leu
|
- | 3.0 |
|
B | |
| 7681 | chr1 | 16135747 | C | T |
c.1336G>A
|
p.Gly446Ser
|
- | 3.0 |
|
B | |
| 13779 | chr1 | 16135781 | C | T |
c.1313-11G>A
|
-
|
3.0 |
|
B | ||
| 22666 | chr1 | 16138177 | A | AG |
c.987dup
|
p.Ser330LeufsTer51
|
- | 3.0 |
|
B | |
| 31875 | chr1 | 16138308 | C | G |
c.946G>C
|
p.Ala316Pro
|
- | 3.0 |
|
B | |
| 30673 | chr1 | 16148422 | C | CACT |
c.776_778dup
|
p.Gln259_Cys260insTer
|
- | 3.0 |
|
B | |
| 32180 | chr1 | 16148447 | C | A |
c.754G>T
|
p.Glu252Ter
|
- | 3.0 |
|
B | |
| 13111 | chr1 | 16148470 | C | T |
c.731G>A
|
p.Arg244His
|
3.0 |
|
B | ||
| 2463 | chr1 | 16148481 | A | AC |
c.719dup
|
p.Glu241Ter
|
3.0 |
|
B | ||
| 31876 | chr1 | 16148512 | C | T |
c.689G>A
|
p.Cys230Tyr
|
- | 3.0 |
|
B | |
| 12552 | chr1 | 16148615 | CACGG | C |
c.582_585del
|
p.Arg195SerfsTer197
|
- | 3.0 |
|
B | |
| 8912 | chr1 | 16148638 | C | T |
c.563G>A
|
p.Cys188Tyr
|
- | 3.0 |
|
B | |
| 2665 | chr1 | 16148659 | G | GCCA |
c.539_541dup
|
p.Leu180_Ala181insVal
|
- | 3.0 |
|
B |