Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17403 | chr19 | 6821792 | C | T |
c.382C>T
|
p.Pro128Ser
|
- | 3.0 |
|
B | |
| 18340 | chr19 | 6821857 | C | T |
c.447C>T
|
p.Ile149=
|
2.0 |
|
B | ||
| 14358 | chr19 | 6822234 | G | A |
c.463G>A
|
p.Glu155Lys
|
- | 3.0 |
|
B | |
| 26157 | chr19 | 6822261 | G | A |
c.490G>A
|
p.Glu164Lys
|
- | 3.0 |
|
B | |
| 27122 | chr19 | 6822297 | G | A |
c.526G>A
|
p.Asp176Asn
|
- | 3.0 |
|
B | |
| 18483 | chr19 | 6822318 | G | A |
c.547G>A
|
p.Val183Met
|
3.0 |
|
B | ||
| 34441 | chr19 | 6822349 | G | A |
c.558+20G>A
|
-
|
- | 3.0 |
|
B | |
| 28969 | chr19 | 6822474 | CGGA | C |
c.619_621del
|
p.Glu207del
|
- | 3.0 |
|
B | |
| 19234 | chr19 | 6822519 | G | T |
c.654+5G>T
|
-
|
- | 3.0 |
|
B | |
| 21963 | chr19 | 6822530 | C | T |
c.654+16C>T
|
-
|
- | 2.5 |
|
B | |
| 20878 | chr19 | 6825094 | C | G |
c.696C>G
|
p.Asp232Glu
|
- | 3.0 |
|
B | |
| 18612 | chr19 | 6825291 | C | T |
c.724-12C>T
|
-
|
3.0 |
|
B | ||
| 15637 | chr19 | 6825404 | G | C |
c.825G>C
|
p.Glu275Asp
|
- | 3.0 |
|
B | |
| 13685 | chr19 | 6825426 | A | C |
c.827+20A>C
|
-
|
- | 3.0 |
|
B | |
| 29908 | chr19 | 6826619 | G | C |
c.835G>C
|
p.Val279Leu
|
- | 3.0 |
|
B | |
| 13071 | chr19 | 6826718 | G | A |
c.927+7G>A
|
-
|
2.0 |
|
B | ||
| 27272 | chr19 | 6828064 | C | T |
c.928-12C>T
|
-
|
3.0 |
|
B | ||
| 30006 | chr19 | 6828403 | G | A |
c.1024-16G>A
|
-
|
3.0 |
|
B | ||
| 31512 | chr19 | 6828444 | C | T |
c.1049C>T
|
p.Ala350Val
|
3.0 |
|
B | ||
| 18179 | chr19 | 6828631 | C | T |
c.1102C>T
|
p.Gln368Ter
|
- | 3.0 |
|
B |