Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2082 | chr8 | 47915327 | C | G |
c.2617+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 10615 | chr8 | 47915412 | C | T |
c.2533G>A
|
p.Ala845Thr
|
- | 3.0 |
|
B | |
| 7487 | chr8 | 47927193 | C | A |
c.2419+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 30839 | chr8 | 47929166 | T | A |
c.2065A>T
|
p.Lys689Ter
|
- | 4.0 |
|
B | |
| 25823 | chr8 | 47933065 | C | A |
c.1731G>T
|
p.Glu577Asp
|
- | 3.0 |
|
B | |
| 8782 | chr8 | 47936442 | G | A |
c.1189C>T
|
p.Leu397Phe
|
- | 3.0 |
|
B | |
| 22751 | chr8 | 47939542 | G | T |
c.1113+9C>A
|
-
|
- | 3.0 |
|
B | |
| 10159 | chr8 | 47939656 | A | C |
c.1008T>G
|
p.Asn336Lys
|
- | 3.0 |
|
B | |
| 20749 | chr8 | 47943234 | G | A |
c.941C>T
|
p.Ser314Leu
|
- | 3.0 |
|
B | |
| 25824 | chr8 | 47943867 | T | C |
c.794A>G
|
p.Tyr265Cys
|
3.0 |
|
B | ||
| 15092 | chr8 | 47953922 | G | A |
c.509-3C>T
|
-
|
3.0 |
|
B | ||
| 13869 | chr8 | 47954349 | AT | A |
c.496del
|
p.Ile166TyrfsTer6
|
3.5 |
|
B | ||
| 32407 | chr8 | 47954420 | T | G |
c.426A>C
|
p.Arg142Ser
|
- | 3.0 |
|
B | |
| 19530 | chr8 | 47955957 | TA | T |
c.325-10del
-
|
-
-
|
2.0 |
|
B | ||
| 6887 | chr8 | 47957175 | A | ATT |
c.318_319dup
-
|
p.Ile107LysfsTer57
-
|
- | 3.5 |
|
B | |
| 28830 | chr8 | 47957274 | A | C |
c.232-11T>G
-
|
-
-
|
- | 2.0 |
|
B | |
| 4579 | chr8 | 47957354 | C | T |
c.231+1G>A
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 16562 | chr8 | 47960019 | G | C |
c.108C>G
-
|
p.Arg36=
-
|
- | 3.0 |
|
B | |
| 21666 | chr8 | 47960027 | G | A |
c.100C>T
-
|
p.Leu34=
-
|
2.0 |
|
B | ||
| 8687 | chr8 | 47960094 | GGAGCAACGCACACCGGCTCC | G |
c.13_32del
-
|
p.Gly5ProfsTer66
-
|
- | 3.5 |
|
B |