Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33424 | chr19 | 10151826 | C | G |
c.2041G>C
|
p.Gly681Arg
|
- | 3.0 |
|
B | |
| 10909 | chr19 | 10154438 | C | A |
c.1874G>T
|
p.Arg625Met
|
- | 3.0 |
|
B | |
| 4887 | chr19 | 10154668 | C | T |
c.1750G>A
|
p.Gly584Arg
|
3.0 |
|
B | ||
| 958 | chr19 | 10155007 | T | C |
c.1542A>G
|
p.Ile514Met
|
- | 3.0 |
|
B | |
| 17532 | chr19 | 10160070 | GA | G |
c.1044-8del
|
-
|
1.0 |
|
B | ||
| 20256 | chr19 | 10160070 | GAAA | G |
c.1044-10_1044-8del
|
-
|
3.0 |
|
B | ||
| 5312 | chr19 | 10162678 | C | T |
c.997G>A
|
p.Glu333Lys
|
3.0 |
|
B | ||
| 8801 | chr19 | 10166612 | C | G |
c.877G>C
|
p.Asp293His
|
- | 3.0 |
|
B | |
| 27484 | chr19 | 10168330 | G | A |
c.803C>T
|
p.Pro268Leu
|
2.5 |
|
B | ||
| 27485 | chr19 | 10168331 | G | A |
c.802C>T
|
p.Pro268Ser
|
3.0 |
|
B | ||
| 27109 | chr19 | 10168349 | G | A |
c.784C>T
|
p.Arg262Ter
|
- | 3.0 |
|
B | |
| 30664 | chr19 | 10168377 | G | A |
c.769-13C>T
|
-
|
- | 3.0 |
|
B | |
| 30158 | chr19 | 10173921 | G | A |
c.649-16C>T
|
-
|
2.5 |
|
B | ||
| 9250 | chr19 | 10180204 | T | C |
c.476A>G
|
p.Gln159Arg
|
3.0 |
|
B | ||
| 11320 | chr19 | 10180251 | A | G |
c.446-17T>C
|
-
|
- | 3.0 |
|
B | |
| 9212 | chr19 | 10194903 | G | A |
c.-4C>T
|
-
|
3.0 |
|
B | ||
| 9213 | chr19 | 10194904 | G | A |
c.-5C>T
|
-
|
3.0 |
|
B | ||
| 12366 | chr19 | 10194916 | G | C |
c.-17C>G
|
-
|
3.0 |
|
B | ||
| 908 | chr19 | 10194923 | C | G |
c.-24G>C
|
-
|
3.0 |
|
B | ||
| 27298 | chr19 | 10486699 | T | C |
c.1828A>G
|
p.Met610Val
|
- | 3.0 |
|
B |