Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9631 | chr9 | 127843144 | C | A |
c.169G>T
|
p.Ala57Ser
|
- | 3.0 |
|
B | |
| 14894 | chr9 | 128566838 | C | G |
c.98C>G
|
p.Ser33Ter
|
- | 3.0 |
|
B | |
| 16603 | chr9 | 128566868 | C | T |
c.128C>T
|
p.Ser43Phe
|
- | 3.0 |
|
B | |
| 7856 | chr9 | 128566881 | G | C |
c.141G>C
|
p.Gln47His
|
- | 3.0 |
|
B | |
| 14895 | chr9 | 128566943 | C | G |
c.203C>G
|
p.Ser68Cys
|
- | 3.0 |
|
B | |
| 6828 | chr9 | 128575318 | G | C |
c.624G>C
|
p.Val208=
|
- | 3.0 |
|
B | |
| 25571 | chr9 | 128579679 | G | A |
c.1264G>A
|
p.Glu422Lys
|
- | 3.0 |
|
B | |
| 18760 | chr9 | 128582721 | G | A |
c.1678G>A
|
p.Glu560Lys
|
3.0 |
|
B | ||
| 3853 | chr9 | 128583787 | G | A |
c.2012-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 9132 | chr9 | 128583818 | AGCAATTTAATC | A |
c.2048_2058del
|
p.Phe683CysfsTer2
|
- | 3.5 |
|
B | |
| 6327 | chr9 | 128584408 | G | A |
c.2320G>A
|
p.Val774Ile
|
3.0 |
|
B | ||
| 24101 | chr9 | 128584718 | C | A |
c.2438-3C>A
|
-
|
- | 3.0 |
|
B | |
| 35015 | chr9 | 128585783 | C | T |
c.2596C>T
|
p.His866Tyr
|
- | 3.0 |
|
B | |
| 35452 | chr9 | 128587681 | C | A |
c.2854C>A
|
p.Gln952Lys
|
- | 3.0 |
|
B | |
| 9203 | chr9 | 128588888 | G | A |
c.2951G>A
|
p.Arg984Gln
|
2.0 |
|
B | ||
| 9133 | chr9 | 128591549 | G | A |
c.3079G>A
|
p.Ala1027Thr
|
2.5 |
|
B | ||
| 35391 | chr9 | 128593054 | G | T |
c.3215+12G>T
|
-
|
- | 2.0 |
|
B | |
| 10871 | chr9 | 128594197 | G | A |
c.3238G>A
|
p.Gly1080Ser
|
- | 3.0 |
|
B | |
| 29707 | chr9 | 128600078 | A | G |
c.3544-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 16768 | chr9 | 128603534 | C | T |
c.3580-9C>T
|
-
|
- | 3.0 |
|
B |