Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14695 | chr12 | 4276085 | G | A |
c.276G>A
|
p.Pro92=
|
3.0 |
|
B | ||
| 11395 | chr12 | 4276198 | C | T |
c.389C>T
|
p.Ser130Phe
|
- | 3.0 |
|
B | |
| 16792 | chr12 | 4276212 | G | A |
c.403G>A
|
p.Glu135Lys
|
3.0 |
|
B | ||
| 11147 | chr12 | 4278875 | T | C |
c.527T>C
|
p.Leu176Pro
|
- | 3.0 |
|
B | |
| 6637 | chr12 | 4278901 | A | C |
c.553A>C
|
p.Ile185Leu
|
- | 3.0 |
|
B | |
| 2125 | chr12 | 4299914 | C | T |
c.775C>T
|
p.Gln259Ter
|
- | 3.0 |
|
B | |
| 32721 | chr12 | 4299980 | C | T |
c.841C>T
|
p.Pro281Ser
|
4.5 |
|
B | ||
| 30995 | chr12 | 4300001 | G | T |
c.862G>T
|
p.Asp288Tyr
|
3.0 |
|
B | ||
| 7462 | chr12 | 4370378 | G | T |
c.721C>A
|
p.Pro241Thr
|
- | 3.0 |
|
B | |
| 22144 | chr12 | 4370398 | G | A |
c.701C>T
|
p.Thr234Met
|
3.0 |
|
B | ||
| 7765 | chr12 | 4370425 | C | A |
c.674G>T
|
p.Gly225Val
|
- | 3.0 |
|
B | |
| 14415 | chr12 | 4370459 | C | T |
c.640G>A
|
p.Glu214Lys
|
3.0 |
|
B | ||
| 27229 | chr12 | 4370462 | C | T |
c.637G>A
|
p.Ala213Thr
|
3.0 |
|
B | ||
| 6420 | chr12 | 4370497 | G | A |
c.602C>T
|
p.Pro201Leu
|
3.0 |
|
B | ||
| 22503 | chr12 | 4370537 | C | T |
c.562G>A
|
p.Asp188Asn
|
- | 3.0 |
|
B | |
| 14303 | chr12 | 4370540 | G | A |
c.559C>T
|
p.Arg187Trp
|
3.0 |
|
B | ||
| 26616 | chr12 | 4370563 | C | T |
c.536G>A
|
p.Arg179Gln
|
3.0 |
|
B | ||
| 7766 | chr12 | 4370605 | G | A |
c.494C>T
|
p.Pro165Leu
|
3.0 |
|
B | ||
| 649 | chr12 | 4370652 | C | T |
c.447G>A
|
p.Met149Ile
|
- | 3.0 |
|
B | |
| 31603 | chr12 | 4372621 | C | T |
c.288G>A
|
p.Met96Ile
|
- | 3.0 |
|
B |