Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34179 | chr12 | 117582289 | C | A |
c.1241+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 34953 | chr12 | 117582320 | C | T |
c.1211G>A
|
p.Arg404His
|
3.0 |
|
B | ||
| 27749 | chr12 | 117667459 | G | A |
c.1171+15C>T
|
-
|
2.0 |
|
B | ||
| 15300 | chr12 | 117667479 | G | C |
c.1166C>G
|
p.Ser389Cys
|
- | 3.0 |
|
B | |
| 33264 | chr12 | 117667528 | C | T |
c.1117G>A
|
p.Ala373Thr
|
3.0 |
|
B | ||
| 17970 | chr12 | 117761035 | C | T |
c.962G>A
|
p.Arg321His
|
3.0 |
|
B | ||
| 34038 | chr12 | 117761068 | C | A |
c.929G>T
|
p.Arg310Leu
|
- | 3.0 |
|
B | |
| 26141 | chr12 | 117761116 | G | A |
c.881C>T
|
p.Ser294Phe
|
- | 3.0 |
|
B | |
| 26432 | chr12 | 117761180 | G | A |
c.817C>T
|
p.Pro273Ser
|
3.0 |
|
B | ||
| 22366 | chr12 | 117761215 | G | A |
c.782C>T
|
p.Pro261Leu
|
3.0 |
|
B | ||
| 17920 | chr12 | 117761228 | C | T |
c.769G>A
|
p.Ala257Thr
|
3.0 |
|
B | ||
| 32768 | chr12 | 117761239 | C | T |
c.758G>A
|
p.Arg253Gln
|
3.0 |
|
B | ||
| 27172 | chr12 | 117761324 | C | T |
c.673G>A
|
p.Asp225Asn
|
- | 3.0 |
|
B | |
| 9950 | chr12 | 117761327 | C | T |
c.670G>A
|
p.Val224Met
|
3.0 |
|
B | ||
| 29325 | chr12 | 117761438 | G | A |
c.559C>T
|
p.Pro187Ser
|
3.0 |
|
B | ||
| 13433 | chr12 | 117761524 | C | T |
c.473G>A
|
p.Gly158Glu
|
- | 3.0 |
|
B | |
| 13927 | chr12 | 117855445 | C | T |
c.455G>A
|
p.Arg152Lys
|
- | 3.0 |
|
B | |
| 23292 | chr12 | 117968141 | C | A |
c.115G>T
|
p.Glu39Ter
|
- | 3.0 |
|
B | |
| 14827 | chr12 | 117968146 | T | C |
c.110A>G
|
p.Asn37Ser
|
- | 3.0 |
|
B | |
| 18671 | chr12 | 118068522 | TTCCTCC | T |
c.1416_1421del
|
p.Glu473_Glu474del
|
2.0 |
|
B |