Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6737 | chr12 | 132632756 | A | G |
c.6044T>C
|
p.Leu2015Pro
|
- | 3.0 |
|
B | |
| 33155 | chr12 | 132632794 | C | T |
c.6006G>A
|
p.Ala2002=
|
2.0 |
|
B | ||
| 7696 | chr12 | 132634246 | T | C |
c.5944A>G
|
p.Ile1982Val
|
- | 3.0 |
|
B | |
| 19921 | chr12 | 132634256 | GT | G |
c.5933del
|
p.Asn1978ThrfsTer21
|
- | 4.0 |
|
B | |
| 18685 | chr12 | 132634387 | C | T |
c.5812-9G>A
|
-
|
- | 2.5 |
|
B | |
| 25699 | chr12 | 132635900 | A | C |
c.5803T>G
|
p.Cys1935Gly
|
- | 3.0 |
|
B | |
| 22999 | chr12 | 132635992 | G | A |
c.5711C>T
|
p.Thr1904Ile
|
3.5 |
|
B | ||
| 7067 | chr12 | 132638104 | A | T |
c.5588T>A
|
p.Val1863Asp
|
- | 3.0 |
|
B | |
| 2415 | chr12 | 132638120 | G | A |
c.5572C>T
|
p.Arg1858Cys
|
3.0 |
|
B | ||
| 23075 | chr12 | 132639317 | G | A |
c.5379-19C>T
|
-
|
2.0 |
|
B | ||
| 15116 | chr12 | 132641866 | G | A |
c.5174-15C>T
|
-
|
2.0 |
|
B | ||
| 10555 | chr12 | 132642557 | C | T |
c.4901G>A
|
p.Arg1634His
|
2.5 |
|
B | ||
| 16609 | chr12 | 132643340 | G | A |
c.4445-10C>T
|
-
|
2.0 |
|
B | ||
| 1272 | chr12 | 132643512 | C | A |
c.4339G>T
|
p.Val1447Phe
|
- | 3.0 |
|
B | |
| 29474 | chr12 | 132643577 | G | A |
c.4291-17C>T
|
-
|
- | 3.0 |
|
B | |
| 35023 | chr12 | 132643834 | C | T |
c.4290+3G>A
|
-
|
- | 3.0 |
|
B | |
| 19922 | chr12 | 132643953 | T | C |
c.4174A>G
|
p.Asn1392Asp
|
- | 3.0 |
|
B | |
| 25420 | chr12 | 132649027 | C | T |
c.4051G>A
|
p.Val1351Ile
|
2.5 |
|
B | ||
| 6159 | chr12 | 132649041 | C | T |
c.4037G>A
|
p.Arg1346Lys
|
- | 3.0 |
|
B | |
| 14347 | chr12 | 132649070 | G | T |
c.4008C>A
|
p.Ile1336=
|
- | 3.0 |
|
B |