Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13252 | chr9 | 5029830 | G | C |
c.274G>C
|
p.Glu92Gln
|
- | 3.0 |
|
B | |
| 33650 | chr9 | 5029848 | C | T |
c.292C>T
|
p.Pro98Ser
|
- | 3.0 |
|
B | |
| 33651 | chr9 | 5029849 | C | T |
c.293C>T
|
p.Pro98Leu
|
- | 3.0 |
|
B | |
| 13091 | chr9 | 5044464 | C | T |
c.412C>T
|
p.Arg138Ter
|
- | 3.0 |
|
B | |
| 6826 | chr9 | 5044479 | C | T |
c.427C>T
|
p.Pro143Ser
|
3.0 |
|
B | ||
| 4320 | chr9 | 5054612 | C | T |
c.664C>T
|
p.His222Tyr
|
- | 3.0 |
|
B | |
| 14779 | chr9 | 5054649 | G | A |
c.701G>A
|
p.Arg234His
|
3.0 |
|
B | ||
| 12279 | chr9 | 5054890 | C | T |
c.936+6C>T
|
-
|
3.0 |
|
B | ||
| 33830 | chr9 | 5055668 | G | A |
c.937-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 10470 | chr9 | 5055751 | G | T |
c.1019G>T
|
p.Arg340Leu
|
3.0 |
|
B | ||
| 29158 | chr9 | 5064868 | C | T |
c.1057-15C>T
|
-
|
3.0 |
|
B | ||
| 28703 | chr9 | 5069175 | C | T |
c.1480C>T
|
p.Gln494Ter
|
- | 3.0 |
|
B | |
| 26878 | chr9 | 5069966 | G | T |
c.1555G>T
|
p.Asp519Tyr
|
3.0 |
|
B | ||
| 3035 | chr9 | 5072582 | G | C |
c.1732G>C
|
p.Val578Leu
|
- | 3.0 |
|
B | |
| 12133 | chr9 | 5073681 | CT | C |
c.1777-7del
|
-
|
2.5 |
|
B | ||
| 23375 | chr9 | 5073742 | G | T |
c.1821G>T
|
p.Lys607Asn
|
- | 3.0 |
|
B | |
| 13651 | chr9 | 5077523 | A | G |
c.1935A>G
|
p.Ile645Met
|
- | 3.0 |
|
B | |
| 14389 | chr9 | 5078387 | C | T |
c.2074C>T
|
p.Pro692Ser
|
- | 3.0 |
|
B | |
| 20053 | chr9 | 5078436 | C | CA |
c.2126dup
|
p.Asp710GlyfsTer13
|
- | 3.0 |
|
B | |
| 6283 | chr9 | 5078452 | C | T |
c.2131+8C>T
|
-
|
- | 3.0 |
|
B |