Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30376 | chr8 | 31141445 | G | C |
c.2983G>C
|
p.Ala995Pro
|
- | 3.0 |
|
B | |
| 20351 | chr8 | 31141512 | CT | C |
c.3055del
|
p.Ser1019ProfsTer4
|
- | 3.5 |
|
B | |
| 25459 | chr8 | 31141717 | C | G |
c.3175C>G
|
p.Gln1059Glu
|
- | 3.0 |
|
B | |
| 18666 | chr8 | 31142617 | A | AG |
c.3234-9_3234-8insG
|
-
|
- | 3.0 |
|
B | |
| 19005 | chr8 | 31143578 | A | C |
c.3338A>C
|
p.Lys1113Thr
|
- | 3.0 |
|
B | |
| 20746 | chr8 | 31147126 | C | G |
c.3457C>G
|
p.Gln1153Glu
|
- | 3.0 |
|
B | |
| 17872 | chr8 | 31150425 | C | G |
c.3657C>G
|
p.Ile1219Met
|
- | 3.0 |
|
B | |
| 3028 | chr8 | 31154640 | G | A |
c.3704G>A
|
p.Ser1235Asn
|
3.0 |
|
B | ||
| 10525 | chr8 | 31154678 | G | T |
c.3742G>T
|
p.Ala1248Ser
|
- | 3.0 |
|
B | |
| 331 | chr8 | 31157509 | C | T |
c.3961C>T
|
p.Arg1321Ter
|
5.0 |
|
B | ||
| 34137 | chr8 | 31639396 | T | C |
-
|
-
|
- | 4.0 |
|
B | |
| 2522 | chr8 | 31639986 | T | A |
-
|
-
|
4.0 |
|
B | ||
| 13400 | chr8 | 31640226 | T | C |
-
|
-
|
- | 3.0 |
|
B | |
| 17103 | chr8 | 31640283 | AGGC | A |
-
|
-
|
2.5 |
|
B | ||
| 21100 | chr8 | 31640323 | CGA | C |
-
|
-
|
- | 4.0 |
|
B | |
| 12176 | chr8 | 31640450 | G | A |
c.25G>A
|
p.Glu9Lys
|
3.0 |
|
B | ||
| 5591 | chr8 | 31640727 | G | A |
c.302G>A
|
p.Cys101Tyr
|
- | 3.0 |
|
B | |
| 24394 | chr8 | 31640748 | G | T |
c.304+19G>T
|
-
|
- | 3.0 |
|
B | |
| 32680 | chr8 | 32547919 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 15589 | chr8 | 32595888 | T | C |
c.161T>C
|
p.Val54Ala
|
3.0 |
|
B |