Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18897 | chr9 | 115026591 | C | T |
c.6274G>A
|
p.Val2092Met
|
3.0 |
|
B | ||
| 28910 | chr9 | 115026648 | G | A |
c.6217C>T
|
p.Arg2073Trp
|
3.0 |
|
B | ||
| 30430 | chr9 | 115031555 | G | T |
c.5918C>A
|
p.Thr1973Lys
|
3.0 |
|
B | ||
| 30189 | chr9 | 115038388 | G | A |
c.5393-8C>T
|
-
|
- | 3.0 |
|
B | |
| 17315 | chr9 | 115046476 | C | T |
c.5059G>A
|
p.Glu1687Lys
|
- | 3.0 |
|
B | |
| 26043 | chr9 | 115046632 | C | T |
c.4903G>A
|
p.Gly1635Ser
|
3.0 |
|
B | ||
| 15545 | chr9 | 115048275 | C | A |
c.4837G>T
|
p.Ala1613Ser
|
- | 3.0 |
|
B | |
| 29295 | chr9 | 115048431 | C | T |
c.4681G>A
|
p.Val1561Ile
|
- | 3.0 |
|
B | |
| 21292 | chr9 | 115048457 | G | A |
c.4655C>T
|
p.Ser1552Leu
|
3.0 |
|
B | ||
| 19562 | chr9 | 115048546 | G | A |
c.4580-14C>T
|
-
|
3.0 |
|
B | ||
| 25968 | chr9 | 115052934 | C | T |
c.4579+4219G>A
|
-
|
- | 3.0 |
|
B | |
| 16047 | chr9 | 115057225 | C | T |
c.4507G>A
|
p.Asp1503Asn
|
- | 3.0 |
|
B | |
| 24786 | chr9 | 115059822 | G | GT |
c.4213_4214insA
|
p.Pro1405HisfsTer10
|
- | 3.0 |
|
B | |
| 24787 | chr9 | 115059826 | T | C |
c.4210A>G
|
p.Ile1404Val
|
- | 3.0 |
|
B | |
| 24062 | chr9 | 115063919 | C | T |
c.3637G>A
|
p.Val1213Ile
|
2.5 |
|
B | ||
| 15610 | chr9 | 115063922 | T | G |
c.3634A>C
|
p.Thr1212Pro
|
- | 3.0 |
|
B | |
| 28961 | chr9 | 115073829 | AGTTTCAGAAACCTGAAGGTCCTTGGGCGT | A |
c.2959_2987del
|
p.Thr987CysfsTer17
|
- | 3.0 |
|
B | |
| 21293 | chr9 | 115081913 | C | T |
c.2263G>A
|
p.Gly755Arg
|
- | 3.0 |
|
B | |
| 15016 | chr9 | 115085863 | C | T |
c.1867+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 17794 | chr9 | 115086377 | C | T |
c.1354G>A
|
p.Gly452Ser
|
3.0 |
|
B |