Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12350 | chr12 | 6581395 | A | C |
c.4682-7T>G
|
-
|
- | 3.0 |
|
B | |
| 28124 | chr12 | 6581404 | A | C |
c.4682-16T>G
|
-
|
- | 3.0 |
|
B | |
| 12570 | chr12 | 6581684 | G | A |
c.4646C>T
|
p.Thr1549Met
|
3.0 |
|
B | ||
| 2055 | chr12 | 6582198 | T | C |
c.4454A>G
|
p.Glu1485Gly
|
- | 3.0 |
|
B | |
| 2582 | chr12 | 6582202 | G | A |
c.4450C>T
|
p.Arg1484Ter
|
- | 3.5 |
|
B | |
| 21655 | chr12 | 6582640 | G | A |
c.4345C>T
|
p.Arg1449Ter
|
- | 3.0 |
|
B | |
| 10697 | chr12 | 6582918 | C | T |
c.4166G>A
|
p.Arg1389His
|
- | 3.0 |
|
B | |
| 5944 | chr12 | 6583042 | C | G |
c.4132G>C
|
p.Asp1378His
|
- | 3.0 |
|
B | |
| 4282 | chr12 | 6583065 | G | A |
c.4109C>T
|
p.Ser1370Leu
|
- | 3.0 |
|
B | |
| 13762 | chr12 | 6583102 | C | T |
c.4072G>A
|
p.Asp1358Asn
|
- | 3.0 |
|
B | |
| 16793 | chr12 | 6583110 | C | T |
c.4064G>A
|
p.Trp1355Ter
|
- | 3.0 |
|
B | |
| 16351 | chr12 | 6583134 | T | C |
c.4061-21A>G
|
-
|
- | 3.0 |
|
B | |
| 32904 | chr12 | 6583187 | G | C |
c.4060+11C>G
|
-
|
- | 3.0 |
|
B | |
| 6450 | chr12 | 6583226 | G | C |
c.4032C>G
|
p.Asn1344Lys
|
- | 3.0 |
|
B | |
| 8408 | chr12 | 6583239 | C | T |
c.4019G>A
|
p.Arg1340His
|
3.0 |
|
B | ||
| 9948 | chr12 | 6583291 | C | T |
c.3967G>A
|
p.Glu1323Lys
|
- | 3.0 |
|
B | |
| 11046 | chr12 | 6587796 | T | G |
c.3619A>C
|
p.Thr1207Pro
|
- | 3.0 |
|
B | |
| 2737 | chr12 | 6587879 | G | A |
c.3536C>T
|
p.Ser1179Leu
|
- | 3.0 |
|
B | |
| 11496 | chr12 | 6587920 | T | G |
c.3495A>C
|
p.Gln1165His
|
- | 3.0 |
|
B | |
| 10211 | chr12 | 6588306 | C | T |
c.3457G>A
|
p.Asp1153Asn
|
- | 3.0 |
|
B |