Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24571 | chr12 | 68836676 | A | G |
c.845A>G
|
p.Tyr282Cys
|
- | 3.0 |
|
B | |
| 27166 | chr12 | 68836710 | T | A |
c.879T>A
|
p.Asp293Glu
|
- | 3.0 |
|
B | |
| 27600 | chr12 | 68836750 | G | A |
c.918+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 19669 | chr12 | 68839309 | TC | T |
c.961del
|
p.Leu321PhefsTer52
|
3.0 |
|
B | ||
| 5835 | chr12 | 68839320 | C | T |
c.965C>T
|
p.Pro322Leu
|
3.0 |
|
B | ||
| 15202 | chr12 | 68839335 | G | A |
c.980G>A
|
p.Arg327Lys
|
3.0 |
|
B | ||
| 8697 | chr12 | 68839358 | T | A |
c.1003T>A
|
p.Trp335Arg
|
- | 3.0 |
|
B | |
| 33465 | chr12 | 68839587 | A | G |
c.1232A>G
|
p.Tyr411Cys
|
3.0 |
|
B | ||
| 30870 | chr12 | 68839667 | C | T |
c.1312C>T
|
p.Leu438Phe
|
3.0 |
|
B | ||
| 4731 | chr12 | 68856675 | G | A |
c.1094C>T
|
p.Thr365Ile
|
- | 3.0 |
|
B | |
| 19722 | chr12 | 69570529 | GT | G |
c.253+20del
|
-
|
3.0 |
|
B | ||
| 26216 | chr12 | 69571411 | C | G |
c.389C>G
|
p.Pro130Arg
|
- | 3.0 |
|
B | |
| 34974 | chr12 | 69572159 | C | T |
c.454C>T
|
p.Arg152Ter
|
- | 3.0 |
|
B | |
| 20577 | chr12 | 69572196 | C | G |
c.491C>G
|
p.Ser164Ter
|
- | 3.0 |
|
B | |
| 23074 | chr12 | 69572226 | G | A |
c.521G>A
|
p.Arg174His
|
3.0 |
|
B | ||
| 9678 | chr12 | 69572281 | A | C |
c.576A>C
|
p.Gln192His
|
- | 3.0 |
|
B | |
| 19325 | chr12 | 69574170 | G | C |
c.742G>C
|
p.Gly248Arg
|
- | 3.0 |
|
B | |
| 13511 | chr12 | 69574645 | A | G |
c.1217A>G
|
p.Lys406Arg
|
- | 3.0 |
|
B | |
| 22998 | chr12 | 69574764 | G | T |
c.1336G>T
|
p.Asp446Tyr
|
- | 3.0 |
|
B | |
| 18869 | chr12 | 69574870 | C | G |
c.1442C>G
|
p.Ala481Gly
|
- | 3.0 |
|
B |