Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17793 | chr9 | 37020743 | A | C |
c.105T>G
|
p.Asp35Glu
|
- | 3.0 |
|
B | |
| 33673 | chr9 | 37020766 | CA | C |
c.81del
|
p.Phe27LeufsTer2
|
- | 4.0 |
|
B | |
| 31666 | chr9 | 37020771 | A | C |
c.77T>G
|
p.Val26Gly
|
4.0 |
|
B | ||
| 33654 | chr9 | 37020778 | C | T |
c.70G>A
|
p.Gly24Arg
|
3.0 |
|
B | ||
| 32687 | chr9 | 37026851 | G | T |
c.47-6050C>A
|
-
|
3.0 |
|
B | ||
| 30009 | chr9 | 37034006 | G | A |
c.26C>T
|
p.Thr9Ile
|
- | 3.0 |
|
B | |
| 4359 | chr9 | 39078457 | C | T |
c.3674-1G>A
|
p.?
|
3.0 |
|
B | ||
| 4506 | chr9 | 68465163 | G | A |
c.1114G>A
|
p.Asp372Asn
|
- | 3.0 |
|
B | |
| 5740 | chr9 | 68781028 | A | G |
c.-85-37433A>G
c.864A>G
|
-
p.Ter288TrpextTer17
|
- | 3.0 |
|
B | |
| 18707 | chr9 | 69151650 | G | C |
c.117-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 26196 | chr9 | 69216436 | C | T |
c.212C>T
|
p.Pro71Leu
|
2.5 |
|
B | ||
| 12969 | chr9 | 69218329 | G | C |
c.312G>C
|
p.Gln104His
|
- | 3.0 |
|
B | |
| 1297 | chr9 | 69220890 | G | T |
c.346G>T
|
p.Val116Phe
|
- | 3.0 |
|
B | |
| 6171 | chr9 | 69220957 | G | A |
c.413G>A
|
p.Arg138Gln
|
3.0 |
|
B | ||
| 5880 | chr9 | 69221058 | G | A |
c.514G>A
|
p.Glu172Lys
|
3.0 |
|
B | ||
| 28389 | chr9 | 69221199 | C | T |
c.655C>T
|
p.Arg219Trp
|
3.0 |
|
B | ||
| 24397 | chr9 | 69221355 | C | T |
c.811C>T
|
p.Arg271Cys
|
- | 3.0 |
|
B | |
| 17878 | chr9 | 69221386 | G | A |
c.842G>A
|
p.Gly281Glu
|
- | 3.0 |
|
B | |
| 809 | chr9 | 69221430 | A | G |
c.886A>G
|
p.Ser296Gly
|
- | 3.0 |
|
B | |
| 12281 | chr9 | 69221445 | G | A |
c.901G>A
|
p.Gly301Arg
|
- | 3.0 |
|
B |