Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3310 | chr9 | 76710005 | C | T |
c.2269G>A
|
p.Gly757Arg
|
- | 3.0 |
|
B | |
| 5188 | chr9 | 77283447 | A | T |
c.3211A>T
|
p.Asn1071Tyr
|
- | 3.0 |
|
B | |
| 24597 | chr9 | 77728556 | T | C |
c.847A>G
|
p.Ile283Val
|
- | 3.0 |
|
B | |
| 6778 | chr9 | 77728582 | T | C |
c.821A>G
|
p.Asn274Ser
|
- | 3.0 |
|
B | |
| 29294 | chr9 | 77728597 | A | G |
c.806T>C
|
p.Val269Ala
|
- | 3.0 |
|
B | |
| 9131 | chr9 | 77728624 | G | C |
c.779C>G
|
p.Thr260Arg
|
- | 3.0 |
|
B | |
| 2874 | chr9 | 77728646 | C | T |
c.757G>A
|
p.Ala253Thr
|
- | 3.0 |
|
B | |
| 27926 | chr9 | 77794571 | T | G |
c.627A>C
|
p.Gln209His
|
- | 4.0 |
|
B | |
| 16366 | chr9 | 77794572 | T | A |
c.626A>T
|
p.Gln209Leu
|
4.5 |
|
B | ||
| 357 | chr9 | 77794572 | T | G |
c.626A>C
|
p.Gln209Pro
|
4.33 |
|
A | ||
| 8152 | chr9 | 77797577 | C | T |
c.548G>A
|
p.Arg183Gln
|
4.5 |
|
B | ||
| 25061 | chr9 | 77797626 | C | T |
c.499G>A
|
p.Val167Ile
|
3.0 |
|
B | ||
| 9202 | chr9 | 77815749 | C | G |
c.343G>C
|
p.Glu115Gln
|
- | 3.0 |
|
B | |
| 9872 | chr9 | 77922179 | G | T |
c.303C>A
|
p.Tyr101Ter
|
3.0 |
|
B | ||
| 19202 | chr9 | 77922196 | T | A |
c.286A>T
|
p.Thr96Ser
|
3.0 |
|
B | ||
| 24145 | chr9 | 77922307 | T | G |
c.175A>C
|
p.Met59Leu
|
3.0 |
|
B | ||
| 14531 | chr9 | 77922339 | C | A |
c.143G>T
|
p.Gly48Val
|
- | 3.5 |
|
B | |
| 14532 | chr9 | 77922340 | C | A |
c.142G>T
|
p.Gly48Ter
|
- | 3.0 |
|
B | |
| 33014 | chr9 | 77922340 | C | G |
c.142G>C
|
p.Gly48Arg
|
- | 3.5 |
|
B | |
| 19559 | chr9 | 83970721 | T | C |
c.1191+16A>G
|
-
|
- | 3.0 |
|
B |