Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19879 | chr9 | 128693880 | CTT | C |
c.664-5_664-4del
|
-
|
2.5 |
|
B | ||
| 20242 | chr9 | 128693880 | CTTT | C |
c.664-6_664-4del
|
-
|
3.0 |
|
B | ||
| 34666 | chr9 | 128693934 | A | AGAT |
c.717_719dup
|
p.Asp239dup
|
3.0 |
|
B | ||
| 27597 | chr9 | 128693992 | G | A |
c.760G>A
|
p.Glu254Lys
|
- | 3.0 |
|
B | |
| 19623 | chr9 | 128828840 | AT | A |
-
c.102del
|
-
p.Lys34AsnfsTer7
|
3.0 |
|
B | ||
| 5189 | chr9 | 129895910 | G | A |
c.1774C>T
|
p.Arg592Trp
|
3.0 |
|
B | ||
| 35689 | chr9 | 129903015 | C | T |
c.1296-14G>A
|
-
|
3.0 |
|
B | ||
| 19571 | chr9 | 129925069 | C | T |
c.878G>A
|
p.Arg293His
|
3.0 |
|
B | ||
| 22758 | chr9 | 129927299 | C | G |
c.685G>C
|
p.Glu229Gln
|
- | 3.0 |
|
B | |
| 28138 | chr9 | 129978499 | C | T |
c.311G>A
|
p.Arg104His
|
3.0 |
|
B | ||
| 32061 | chr9 | 129978524 | A | T |
c.286T>A
|
p.Ser96Thr
|
- | 3.0 |
|
B | |
| 33207 | chr9 | 129978621 | C | A |
c.198-9G>T
|
-
|
3.0 |
|
B | ||
| 22346 | chr9 | 129994868 | C | A |
c.115G>T
|
p.Glu39Ter
|
- | 3.0 |
|
B | |
| 14259 | chr9 | 130835522 | G | A |
c.76G>A
|
p.Glu26Lys
|
- | 3.0 |
|
B | |
| 17008 | chr9 | 130855116 | G | T |
c.549+20G>T
|
-
|
- | 3.0 |
|
B | |
| 12453 | chr9 | 130862789 | C | G |
c.576C>G
|
p.Phe192Leu
|
- | 3.0 |
|
B | |
| 31391 | chr9 | 130862796 | C | G |
c.583C>G
|
p.Leu195Val
|
3.0 |
|
B | ||
| 12454 | chr9 | 130862811 | C | T |
c.598C>T
|
p.His200Tyr
|
- | 3.0 |
|
B | |
| 5657 | chr9 | 130862872 | G | T |
c.659G>T
|
p.Arg220Leu
|
3.0 |
|
B | ||
| 1198 | chr9 | 130862977 | A | T |
c.764A>T
|
p.Glu255Val
|
4.0 |
|
B |