Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30402 | chr12 | 49018879 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 17943 | chr12 | 49021808 | G | A |
c.16586C>T
-
|
p.Ala5529Val
-
|
- | 3.0 |
|
B | |
| 8190 | chr12 | 49021873 | C | T |
c.16522-1G>A
-
|
p.?
-
|
4.0 |
|
B | ||
| 2894 | chr12 | 49022072 | AGAT | A |
c.16489_16491del
-
|
p.Ile5497del
-
|
3.5 |
|
B | ||
| 5492 | chr12 | 49022099 | C | CA |
c.16464dup
-
|
p.Asp5489Ter
-
|
- | 4.0 |
|
B | |
| 19171 | chr12 | 49022261 | C | T |
c.16412+19G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 20458 | chr12 | 49022638 | G | C |
c.16290C>G
-
|
p.Ile5430Met
-
|
- | 3.0 |
|
B | |
| 27959 | chr12 | 49022720 | C | T |
c.16208G>A
-
|
p.Arg5403His
-
|
- | 3.0 |
|
B | |
| 13240 | chr12 | 49022762 | C | T |
c.16166G>A
-
|
p.Arg5389Gln
-
|
3.0 |
|
B | ||
| 14509 | chr12 | 49024037 | C | T |
c.16052+541G>A
|
-
|
3.0 |
|
B | ||
| 20379 | chr12 | 49024105 | GA | G |
c.16052+472del
|
-
|
3.0 |
|
B | ||
| 18965 | chr12 | 49024937 | T | C |
c.15794A>G
|
p.Asn5265Ser
|
- | 3.0 |
|
B | |
| 35235 | chr12 | 49024964 | G | A |
c.15785-18C>T
|
-
|
- | 3.0 |
|
B | |
| 26773 | chr12 | 49026206 | C | A |
c.15760G>T
|
p.Val5254Phe
|
- | 3.0 |
|
B | |
| 6822 | chr12 | 49026326 | G | A |
c.15640C>T
|
p.Arg5214Cys
|
4.0 |
|
B | ||
| 781 | chr12 | 49026841 | G | T |
c.15125C>A
|
p.Ala5042Asp
|
- | 3.0 |
|
B | |
| 14051 | chr12 | 49026887 | G | A |
c.15079C>T
|
p.Arg5027Ter
|
5.0 |
|
B | ||
| 31290 | chr12 | 49026904 | C | T |
c.15062G>A
|
p.Arg5021Gln
|
3.0 |
|
B | ||
| 8186 | chr12 | 49026944 | C | A |
c.15022G>T
|
p.Glu5008Ter
|
- | 4.0 |
|
B | |
| 10193 | chr12 | 49027100 | G | A |
c.14866C>T
|
p.Pro4956Ser
|
- | 3.0 |
|
B |