Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23870 | chr9 | 20365655 | T | G |
c.1201+14A>C
|
-
|
3.0 |
|
B | ||
| 29501 | chr9 | 20365667 | A | T |
c.1201+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 25766 | chr9 | 20365686 | G | A |
c.1184C>T
|
p.Ser395Phe
|
- | 3.0 |
|
B | |
| 27831 | chr9 | 20413812 | G | A |
c.1034C>T
|
p.Ser345Leu
|
- | 3.0 |
|
B | |
| 5917 | chr9 | 20414041 | A | C |
c.805T>G
|
p.Leu269Val
|
- | 3.0 |
|
B | |
| 5298 | chr9 | 20414204 | A | T |
c.642T>A
|
p.His214Gln
|
- | 3.0 |
|
B | |
| 5879 | chr9 | 20448181 | T | C |
c.362A>G
|
p.Lys121Arg
|
- | 3.0 |
|
B | |
| 32033 | chr9 | 20448266 | C | G |
c.277G>C
|
p.Glu93Gln
|
- | 3.0 |
|
B | |
| 14562 | chr9 | 20620674 | C | G |
c.173G>C
|
p.Ser58Thr
|
- | 3.0 |
|
B | |
| 28297 | chr9 | 21802615 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 29558 | chr9 | 21802965 | G | C |
c.33+184G>C
|
-
|
- | 3.0 |
|
B | |
| 26318 | chr9 | 21815418 | C | G |
c.34-15C>G
|
-
|
- | 3.0 |
|
B | |
| 14934 | chr9 | 21816713 | G | A |
c.121-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 9024 | chr9 | 21816720 | G | A |
c.127G>A
|
p.Asp43Asn
|
- | 3.0 |
|
B | |
| 6343 | chr9 | 21816733 | T | G |
c.140T>G
|
p.Leu47Trp
|
- | 3.0 |
|
B | |
| 24125 | chr9 | 21816742 | TA | T |
c.155del
|
p.Asn52MetfsTer30
|
3.5 |
|
B | ||
| 11577 | chr9 | 21818105 | G | C |
c.250G>C
|
p.Glu84Gln
|
- | 3.0 |
|
B | |
| 21627 | chr9 | 21837974 | T | G |
c.414T>G
|
p.Ile138Met
|
3.0 |
|
B | ||
| 19554 | chr9 | 21854745 | T | TG |
c.571dup
|
p.Ala191GlyfsTer16
|
3.5 |
|
B | ||
| 22142 | chr9 | 21859315 | C | T |
c.703C>T
|
p.Arg235Trp
|
3.0 |
|
B |