Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2859 | chr12 | 111447735 | A | C |
-
c.1316A>C
|
-
p.His439Pro
|
- | 3.0 |
|
B | |
| 25115 | chr12 | 111447826 | A | T |
-
c.1407A>T
|
-
p.Pro469=
|
3.5 |
|
B | ||
| 9949 | chr12 | 111448099 | G | C |
-
c.1525G>C
|
-
p.Gly509Arg
|
3.0 |
|
B | ||
| 5202 | chr12 | 111744765 | C | T |
c.1837C>T
|
p.Pro613Ser
|
- | 3.0 |
|
B | |
| 5203 | chr12 | 111744766 | C | T |
c.1838C>T
|
p.Pro613Leu
|
3.0 |
|
B | ||
| 16491 | chr12 | 111781933 | G | A |
c.130G>A
|
p.Glu44Lys
|
- | 3.0 |
|
B | |
| 24780 | chr12 | 111783307 | T | C |
c.360+9T>C
|
-
|
- | 3.0 |
|
B | |
| 18804 | chr12 | 111785352 | G | A |
c.440+6G>A
|
-
|
3.0 |
|
B | ||
| 30742 | chr12 | 111789949 | C | T |
c.552+15C>T
|
-
|
3.0 |
|
B | ||
| 25637 | chr12 | 111791318 | C | T |
c.694C>T
|
p.Pro232Ser
|
- | 3.0 |
|
B | |
| 21106 | chr12 | 111792088 | G | C |
c.823G>C
|
p.Gly275Arg
|
- | 3.0 |
|
B | |
| 18529 | chr12 | 111792089 | G | C |
c.824G>C
|
p.Gly275Ala
|
- | 3.0 |
|
B | |
| 27171 | chr12 | 111792162 | T | C |
c.897T>C
|
p.Asp299=
|
- | 3.0 |
|
B | |
| 30391 | chr12 | 111792768 | G | A |
c.1069G>A
|
p.Glu357Lys
|
3.0 |
|
B | ||
| 19672 | chr12 | 111798133 | AG | A |
c.1144del
|
p.Ala382ArgfsTer29
|
- | 3.5 |
|
B | |
| 20563 | chr12 | 111800075 | C | T |
c.1406+12C>T
|
-
|
- | 3.0 |
|
B | |
| 3269 | chr12 | 112419126 | G | A |
c.14+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 34293 | chr12 | 112446256 | A | C |
c.15-20A>C
|
-
|
- | 3.0 |
|
B | |
| 14950 | chr12 | 112450308 | A | G |
c.138-10A>G
|
-
|
- | 3.0 |
|
B | |
| 5865 | chr12 | 112450352 | A | T |
c.172A>T
|
p.Asn58Tyr
|
4.0 |
|
B |