Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26098 | chr9 | 107487382 | G | A |
c.1012C>T
|
p.Pro338Ser
|
3.0 |
|
B | ||
| 12980 | chr9 | 107487445 | G | A |
c.949C>T
|
p.Pro317Ser
|
3.0 |
|
B | ||
| 29215 | chr9 | 107487486 | T | C |
c.908A>G
|
p.His303Arg
|
3.0 |
|
B | ||
| 11733 | chr9 | 107487648 | C | T |
c.746G>A
|
p.Ser249Asn
|
- | 3.0 |
|
B | |
| 8521 | chr9 | 107487673 | C | A |
c.721G>T
|
p.Glu241Ter
|
4.0 |
|
B | ||
| 32439 | chr9 | 107487724 | C | T |
c.670G>A
|
p.Gly224Arg
|
- | 3.0 |
|
B | |
| 18668 | chr9 | 107487754 | G | A |
c.640C>T
|
p.Pro214Ser
|
3.0 |
|
B | ||
| 8528 | chr9 | 107488014 | G | A |
c.380C>T
|
p.Ser127Leu
|
- | 3.0 |
|
B | |
| 25001 | chr9 | 107488017 | G | T |
c.377C>A
|
p.Ser126Ter
|
- | 3.5 |
|
B | |
| 11659 | chr9 | 107488920 | C | G |
c.126+10G>C
|
-
|
- | 3.0 |
|
B | |
| 4705 | chr9 | 108936442 | G | A |
-
c.261+5G>A
|
-
-
|
- | 3.0 |
|
B | |
| 4344 | chr9 | 110797839 | A | G |
c.1928-2467A>G
|
-
|
1.0 |
|
B | ||
| 3431 | chr9 | 112645676 | C | T |
c.1198C>T
|
p.Pro400Ser
|
- | 3.0 |
|
B | |
| 16767 | chr9 | 113044135 | AT | A |
c.482del
|
p.Asn161IlefsTer24
|
3.0 |
|
B | ||
| 3670 | chr9 | 113297815 | G | C |
-
c.370C>G
|
-
p.Pro124Ala
|
- | 3.0 |
|
B | |
| 21901 | chr9 | 114028882 | G | A |
c.994G>A
|
p.Ala332Thr
|
3.0 |
|
B | ||
| 3671 | chr9 | 114290248 | C | T |
c.4285C>T
|
p.Arg1429Trp
|
3.0 |
|
B | ||
| 19620 | chr9 | 115021282 | AAAG | A |
c.6496-18_6496-16del
|
-
|
3.0 |
|
B | ||
| 18313 | chr9 | 115021283 | A | AG |
c.6496-17_6496-16insC
|
-
|
3.0 |
|
B | ||
| 19561 | chr9 | 115021285 | G | A |
c.6496-18C>T
|
-
|
3.0 |
|
B |