Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14954 | chr12 | 132667555 | T | C |
c.2267A>G
|
p.Asp756Gly
|
- | 3.0 |
|
B | |
| 17706 | chr12 | 132667556 | C | T |
c.2266G>A
|
p.Asp756Asn
|
- | 3.0 |
|
B | |
| 23616 | chr12 | 132667559 | C | T |
c.2263G>A
|
p.Val755Met
|
3.0 |
|
B | ||
| 19089 | chr12 | 132668382 | G | A |
c.2147C>T
|
p.Ala716Val
|
3.0 |
|
B | ||
| 28006 | chr12 | 132668491 | G | A |
c.2038C>T
|
p.Arg680Cys
|
3.0 |
|
B | ||
| 28007 | chr12 | 132668500 | G | A |
c.2029C>T
|
p.Pro677Ser
|
- | 3.0 |
|
B | |
| 756 | chr12 | 132668719 | C | T |
c.1942G>A
|
p.Glu648Lys
|
3.0 |
|
B | ||
| 7965 | chr12 | 132672273 | C | A |
c.1736G>T
|
p.Arg579Leu
|
- | 3.0 |
|
B | |
| 8354 | chr12 | 132672273 | C | T |
c.1736G>A
|
p.Arg579His
|
2.5 |
|
B | ||
| 15114 | chr12 | 132672274 | G | A |
c.1735C>T
|
p.Arg579Cys
|
3.0 |
|
B | ||
| 12865 | chr12 | 132672650 | C | T |
c.1663G>A
|
p.Asp555Asn
|
3.0 |
|
B | ||
| 7141 | chr12 | 132672746 | C | G |
c.1567G>C
|
p.Glu523Gln
|
3.0 |
|
B | ||
| 10936 | chr12 | 132672840 | C | G |
c.1474-1G>C
|
p.?
|
4.0 |
|
B | ||
| 9045 | chr12 | 132673175 | C | G |
c.1462G>C
|
p.Glu488Gln
|
3.0 |
|
B | ||
| 21007 | chr12 | 132673189 | G | A |
c.1448C>T
|
p.Thr483Ile
|
3.0 |
|
B | ||
| 15113 | chr12 | 132673244 | C | T |
c.1393G>A
|
p.Ala465Thr
|
3.0 |
|
B | ||
| 21533 | chr12 | 132673256 | A | T |
c.1381T>A
|
p.Ser461Thr
|
- | 3.0 |
|
B | |
| 19090 | chr12 | 132673261 | G | A |
c.1376C>T
|
p.Ser459Phe
|
- | 3.0 |
|
B | |
| 12748 | chr12 | 132673557 | G | A |
c.1359+18C>T
|
-
|
2.0 |
|
B | ||
| 15112 | chr12 | 132673606 | T | C |
c.1328A>G
|
p.Asp443Gly
|
3.0 |
|
B |