Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4526 | chr12 | 55827851 | C | T |
c.808G>A
|
p.Gly270Ser
|
- | 3.0 |
|
B | |
| 18518 | chr12 | 55954284 | C | T |
-
c.1916G>A
|
-
p.Arg639His
|
3.0 |
|
B | ||
| 29472 | chr12 | 55955275 | T | C |
-
c.1849A>G
|
-
p.Arg617Gly
|
3.0 |
|
B | ||
| 25718 | chr12 | 55955788 | C | G |
-
c.1547G>C
|
-
p.Cys516Ser
|
- | 3.0 |
|
B | |
| 14829 | chr12 | 55956159 | G | A |
-
c.1415C>T
|
-
p.Pro472Leu
|
3.0 |
|
B | ||
| 32065 | chr12 | 55956179 | C | G |
-
c.1395G>C
|
-
p.Arg465Ser
|
- | 3.0 |
|
B | |
| 20638 | chr12 | 55956963 | G | A |
-
c.1340C>T
|
-
p.Thr447Met
|
1.5 |
|
B | ||
| 25836 | chr12 | 55957027 | T | C |
-
c.1276A>G
|
-
p.Thr426Ala
|
- | 3.0 |
|
B | |
| 24065 | chr12 | 55961300 | A | G |
c.334+17T>C
|
-
|
- | 3.0 |
|
B | |
| 25675 | chr12 | 55967026 | G | C |
-
c.18G>C
|
-
p.Lys6Asn
|
- | 3.0 |
|
B | |
| 539 | chr12 | 55967090 | G | C |
-
c.82G>C
|
-
p.Glu28Gln
|
- | 3.0 |
|
B | |
| 2402 | chr12 | 55968829 | G | A |
-
c.367G>A
|
-
p.Val123Ile
|
- | 3.0 |
|
B | |
| 32086 | chr12 | 55968946 | G | C |
-
c.484G>C
|
-
p.Glu162Gln
|
- | 3.0 |
|
B | |
| 25737 | chr12 | 55969465 | C | T |
-
c.487-10C>T
-
|
-
-
-
|
3.0 |
|
B | ||
| 5661 | chr12 | 55969514 | G | T |
-
c.526G>T
-
|
-
p.Gly176Cys
-
|
- | 3.0 |
|
B | |
| 15318 | chr12 | 55970688 | G | C |
-
c.589-356G>C
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 22769 | chr12 | 55971054 | G | C |
c.599G>C
-
|
p.Arg200Pro
-
|
3.0 |
|
B | ||
| 24311 | chr12 | 55971227 | G | C |
c.772G>C
-
|
p.Asp258His
-
|
3.0 |
|
B | ||
| 26183 | chr12 | 55971548 | C | T |
c.820C>T
-
|
p.Arg274Trp
-
|
- | 3.0 |
|
B | |
| 24312 | chr12 | 55971624 | G | A |
c.896G>A
-
|
p.Ter299=
-
|
3.0 |
|
B |