Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25114 | chr12 | 104757477 | A | C |
c.733A>C
|
p.Ile245Leu
|
- | 3.0 |
|
B | |
| 22365 | chr12 | 104757498 | G | A |
c.754G>A
|
p.Glu252Lys
|
3.0 |
|
B | ||
| 18326 | chr12 | 104757738 | G | A |
c.994G>A
|
p.Glu332Lys
|
3.0 |
|
B | ||
| 35409 | chr12 | 106366590 | G | T |
c.162+18G>T
|
-
|
- | 3.0 |
|
B | |
| 35410 | chr12 | 106504103 | C | T |
c.3121C>T
|
p.Arg1041Cys
|
- | 3.0 |
|
B | |
| 4363 | chr12 | 106509449 | TG | T |
c.3303del
|
p.Ser1102LeufsTer19
|
- | 3.0 |
|
B | |
| 3580 | chr12 | 108196170 | G | A |
c.338G>A
|
p.Arg113Gln
|
3.0 |
|
B | ||
| 3688 | chr12 | 108531207 | C | T |
c.1743G>A
|
p.Met581Ile
|
- | 3.0 |
|
B | |
| 3689 | chr12 | 108623598 | T | G |
c.710A>C
|
p.Glu237Ala
|
2.0 |
|
B | ||
| 16376 | chr12 | 110913142 | A | G |
c.356T>C
|
p.Val119Ala
|
- | 3.0 |
|
B | |
| 34037 | chr12 | 110913230 | C | A |
c.353+16G>T
|
-
|
- | 2.0 |
|
B | |
| 29048 | chr12 | 110913262 | C | T |
c.337G>A
|
p.Val113Met
|
- | 3.0 |
|
B | |
| 8335 | chr12 | 110913315 | G | T |
c.284C>A
|
p.Pro95His
|
- | 3.0 |
|
B | |
| 29529 | chr12 | 110914213 | G | A |
c.247C>T
|
p.Leu83Phe
|
3.0 |
|
B | ||
| 5005 | chr12 | 110919115 | C | T |
c.82G>A
|
p.Glu28Lys
|
3.0 |
|
B | ||
| 15679 | chr12 | 110919150 | T | C |
c.47A>G
|
p.Asn16Ser
|
3.0 |
|
B | ||
| 9971 | chr12 | 111418155 | C | A |
c.10C>A
|
p.Pro4Thr
|
3.0 |
|
B | ||
| 5274 | chr12 | 111418159 | C | T |
c.14C>T
|
p.Ala5Val
|
3.0 |
|
B | ||
| 12467 | chr12 | 111418194 | G | C |
c.49G>C
|
p.Ala17Pro
|
3.0 |
|
B | ||
| 10571 | chr12 | 111418203 | G | C |
c.58G>C
|
p.Ala20Pro
|
- | 3.0 |
|
B |