Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25435 | chr8 | 37697529 | T | C |
c.628T>C
|
p.Ser210Pro
|
- | 3.0 |
|
B | |
| 13543 | chr8 | 37697587 | C | G |
c.686C>G
|
p.Ser229Cys
|
- | 3.0 |
|
B | |
| 11978 | chr8 | 37697674 | T | A |
c.773T>A
|
p.Val258Glu
|
- | 3.0 |
|
B | |
| 3991 | chr8 | 37697821 | C | T |
c.920C>T
|
p.Pro307Leu
|
- | 3.0 |
|
B | |
| 12177 | chr8 | 37697986 | C | G |
c.1085C>G
|
p.Pro362Arg
|
3.0 |
|
B | ||
| 19525 | chr8 | 37698315 | G | A |
c.1414G>A
|
p.Ala472Thr
|
- | 3.0 |
|
B | |
| 15331 | chr8 | 37698355 | C | G |
c.1454C>G
|
p.Thr485Arg
|
- | 3.0 |
|
B | |
| 18738 | chr8 | 37698367 | G | A |
c.1466G>A
|
p.Gly489Glu
|
- | 3.0 |
|
B | |
| 33135 | chr8 | 37698415 | G | GCGC |
c.1540_1542dup
|
p.Ala514dup
|
3.0 |
|
B | ||
| 17077 | chr8 | 37698415 | GCGC | G |
c.1540_1542del
|
p.Ala514del
|
3.0 |
|
B | ||
| 6297 | chr8 | 37698415 | GCGCCGC | G |
c.1537_1542del
|
p.Ala513_Ala514del
|
3.0 |
|
B | ||
| 14549 | chr8 | 37698415 | GCGCCGCCGC | G |
c.1534_1542del
|
p.Ala512_Ala514del
|
2.5 |
|
B | ||
| 2010 | chr8 | 37698467 | G | C |
c.1566G>C
|
p.Pro522=
|
3.0 |
|
B | ||
| 10469 | chr8 | 37698531 | C | T |
c.1630C>T
|
p.Arg544Trp
|
3.0 |
|
B | ||
| 6356 | chr8 | 37698638 | G | C |
c.1737G>C
|
p.Gln579His
|
- | 3.0 |
|
B | |
| 15279 | chr8 | 37829277 | C | G |
c.427C>G
|
p.Arg143Gly
|
- | 3.0 |
|
B | |
| 14756 | chr8 | 37829278 | G | A |
c.428G>A
|
p.Arg143Gln
|
3.0 |
|
B | ||
| 18122 | chr8 | 37829857 | G | T |
c.561G>T
|
p.Leu187Phe
|
3.0 |
|
B | ||
| 7666 | chr8 | 37830014 | G | A |
c.718G>A
|
p.Glu240Lys
|
3.0 |
|
B | ||
| 16938 | chr8 | 37830034 | T | C |
c.718+20T>C
|
-
|
- | 3.0 |
|
B |