Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9624 | chr8 | 100705591 | A | G |
c.1685T>C
|
p.Leu562Ser
|
3.0 |
|
B | ||
| 9625 | chr8 | 100705604 | G | C |
c.1672C>G
|
p.Gln558Glu
|
3.0 |
|
B | ||
| 4225 | chr8 | 100706728 | G | A |
c.1525C>T
|
p.Pro509Ser
|
- | 3.0 |
|
B | |
| 29114 | chr8 | 100706738 | G | GA |
c.1514dup
|
p.Arg506ProfsTer7
|
- | 3.0 |
|
B | |
| 8008 | chr8 | 100706892 | C | T |
c.1442G>A
|
p.Arg481His
|
- | 3.0 |
|
B | |
| 2048 | chr8 | 100706905 | T | C |
c.1429A>G
|
p.Met477Val
|
- | 3.0 |
|
B | |
| 1661 | chr8 | 100706910 | C | T |
c.1424G>A
|
p.Arg475Gln
|
2.0 |
|
B | ||
| 16196 | chr8 | 100709201 | T | G |
c.1268A>C
|
p.Tyr423Ser
|
3.0 |
|
B | ||
| 16197 | chr8 | 100709202 | A | G |
c.1267T>C
|
p.Tyr423His
|
3.0 |
|
B | ||
| 3851 | chr8 | 100709535 | C | T |
c.1169G>A
|
p.Arg390Gln
|
3.0 |
|
B | ||
| 4608 | chr8 | 100712378 | G | A |
c.956C>T
|
p.Thr319Ile
|
3.0 |
|
B | ||
| 11778 | chr8 | 100712395 | C | CA |
c.938_939insT
|
p.Glu313AspfsTer10
|
3.0 |
|
B | ||
| 11779 | chr8 | 100712397 | CTT | C |
c.935_936del
|
p.Lys312ArgfsTer10
|
- | 2.5 |
|
B | |
| 1897 | chr8 | 100712461 | A | G |
c.877-4T>C
|
-
|
- | 3.0 |
|
B | |
| 31056 | chr8 | 100712669 | T | C |
c.859A>G
|
p.Arg287Gly
|
3.0 |
|
B | ||
| 897 | chr8 | 100712713 | C | T |
c.815G>A
|
p.Arg272Gln
|
3.0 |
|
B | ||
| 10848 | chr8 | 100712799 | A | C |
c.739-10T>G
|
-
|
3.0 |
|
B | ||
| 13634 | chr8 | 100713134 | T | C |
c.691A>G
|
p.Lys231Glu
|
3.0 |
|
B | ||
| 13635 | chr8 | 100713146 | T | C |
c.679A>G
|
p.Ser227Gly
|
3.0 |
|
B | ||
| 12348 | chr8 | 100713173 | A | C |
c.652T>G
|
p.Leu218Val
|
3.0 |
|
B |