Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19471 | chr6 | 128240164 | GA | G |
c.578-15del
|
-
|
3.0 |
|
B | ||
| 31567 | chr6 | 128322017 | C | G |
c.495+22G>C
|
-
|
- | 3.0 |
|
B | |
| 34822 | chr6 | 128322073 | A | G |
c.461T>C
|
p.Leu154Pro
|
- | 3.0 |
|
B | |
| 30122 | chr6 | 128322094 | C | T |
c.440G>A
|
p.Arg147Lys
|
- | 3.0 |
|
B | |
| 4143 | chr6 | 129514458 | G | A |
c.9074G>A
|
p.Trp3025Ter
|
- | 4.0 |
|
B | |
| 3398 | chr6 | 129600694 | C | T |
c.1520G>A
|
p.Gly507Glu
|
- | 3.0 |
|
B | |
| 20331 | chr6 | 131160135 | GA | G |
c.236del
|
p.Lys79ArgfsTer21
|
3.0 |
|
B | ||
| 28485 | chr6 | 131587803 | C | G |
c.3983G>C
-
|
p.Arg1328Pro
-
|
3.0 |
|
B | ||
| 35619 | chr6 | 131589464 | C | T |
c.3939+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 22321 | chr6 | 131589527 | G | A |
c.3877C>T
|
p.Pro1293Ser
|
- | 3.0 |
|
B | |
| 16736 | chr6 | 131590306 | C | T |
c.3807+16G>A
|
-
|
- | 3.0 |
|
B | |
| 17779 | chr6 | 131590393 | G | A |
c.3736C>T
|
p.Leu1246Phe
|
3.0 |
|
B | ||
| 11485 | chr6 | 131592468 | C | T |
c.3399-8G>A
|
-
|
3.0 |
|
B | ||
| 23473 | chr6 | 131593067 | T | G |
c.3337A>C
|
p.Met1113Leu
|
- | 3.0 |
|
B | |
| 2744 | chr6 | 131594260 | C | T |
c.3071G>A
|
p.Arg1024Gln
|
- | 3.0 |
|
B | |
| 35574 | chr6 | 131594261 | G | A |
c.3070C>T
|
p.Arg1024Ter
|
3.0 |
|
B | ||
| 9278 | chr6 | 131594333 | G | A |
c.2998C>T
|
p.Arg1000Cys
|
3.0 |
|
B | ||
| 9491 | chr6 | 131596116 | A | T |
c.2826T>A
|
p.Asp942Glu
|
- | 3.0 |
|
B | |
| 8085 | chr6 | 131596607 | T | C |
c.2689A>G
|
p.Arg897Gly
|
- | 3.0 |
|
B | |
| 24473 | chr6 | 131596637 | G | A |
c.2659C>T
|
p.Gln887Ter
|
- | 3.0 |
|
B |