Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12020 | chr9 | 21859316 | G | A |
c.704G>A
|
p.Arg235Gln
|
3.0 |
|
B | ||
| 14602 | chr9 | 21859396 | G | A |
c.784G>A
|
p.Glu262Lys
|
3.0 |
|
B | ||
| 14935 | chr9 | 21859436 | G | T |
c.813+11G>T
|
-
|
- | 3.0 |
|
B | |
| 31777 | chr9 | 21931149 | G | T |
c.955G>T
|
p.Ala319Ser
|
3.0 |
|
B | ||
| 333 | chr9 | 21968207 | TCTCAGAGCCTCTCTGGTTCTTTCAATCGGGGATGTCTGCAGAGGGCAGA | T |
c.458-14_*21del
|
p.?
|
- | 4.0 |
|
B | |
| 18129 | chr9 | 21968243 | C | T |
c.458-1G>A
|
p.?
|
- | 4.5 |
|
B | |
| 21520 | chr9 | 21968768 | A | G |
c.458-526T>C
|
-
|
- | 3.0 |
|
B | |
| 17137 | chr9 | 21968772 | C | T |
c.458-530G>A
|
-
|
- | 4.0 |
|
B | |
| 722 | chr9 | 21969801 | G | A |
c.457+1101C>T
|
-
|
- | 3.0 |
|
B | |
| 30008 | chr9 | 21970901 | C | T |
c.457+1G>A
|
p.?
|
4.0 |
|
B | ||
| 9027 | chr9 | 21970907 | G | A |
c.452C>T
|
p.Pro151Leu
|
3.0 |
|
B | ||
| 14841 | chr9 | 21970915 | CG | C |
c.443del
|
p.Ala148GlyfsTer45
|
- | 4.0 |
|
B | |
| 30425 | chr9 | 21970970 | A | G |
c.389T>C
|
p.Leu130Pro
|
- | 3.0 |
|
B | |
| 33592 | chr9 | 21970982 | A | T |
c.377T>A
|
p.Val126Asp
|
3.5 |
|
B | ||
| 33837 | chr9 | 21970989 | GATGGCCCAGCT | G |
c.359_369del
|
p.Glu120AlafsTer18
|
- | 4.0 |
|
B | |
| 6049 | chr9 | 21970999 | C | CT |
c.359dup
|
p.Leu121AlafsTer21
|
- | 4.0 |
|
B | |
| 2310 | chr9 | 21971001 | C | A |
c.358G>T
|
p.Glu120Ter
|
4.0 |
|
B | ||
| 1347 | chr9 | 21971006 | G | T |
c.353C>A
|
p.Ala118Asp
|
- | 3.0 |
|
B | |
| 6863 | chr9 | 21971013 | CCACGGGCAGACGGCCCCAGGCATCGCG | C |
c.319_345del
|
p.Arg107_Val115del
|
- | 3.5 |
|
B | |
| 1027 | chr9 | 21971015 | A | ACGGGCAG |
c.337_343dup
|
p.Val115AlafsTer7
|
- | 4.0 |
|
B |