Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 210 | chr4 | 152328233 | G | A |
c.1393C>T
|
p.Arg465Cys
|
4.0 |
|
A | ||
| 33903 | chr4 | 152328248 | G | T |
c.1378C>A
|
p.His460Asn
|
- | 3.0 |
|
B | |
| 9649 | chr4 | 152328289 | C | T |
c.1337G>A
|
p.Trp446Ter
|
- | 4.5 |
|
B | |
| 3154 | chr4 | 152328307 | T | C |
c.1319A>G
|
p.Asp440Gly
|
- | 3.0 |
|
B | |
| 1807 | chr4 | 152328351 | C | A |
c.1275G>T
|
p.Trp425Cys
|
- | 3.0 |
|
B | |
| 22594 | chr4 | 152328353 | A | C |
c.1273T>G
|
p.Trp425Gly
|
- | 3.0 |
|
B | |
| 32885 | chr4 | 152329691 | C | T |
c.1217G>A
|
p.Trp406Ter
|
- | 4.0 |
|
B | |
| 211 | chr4 | 152329731 | G | A |
c.1177C>T
|
p.Arg393Ter
|
- | 5.0 |
|
A | |
| 19512 | chr4 | 152329804 | G | T |
c.1123-19C>A
|
-
|
3.0 |
|
B | ||
| 23259 | chr4 | 152330731 | C | T |
c.1122+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 28020 | chr4 | 152330749 | C | A |
c.1105G>T
|
p.Glu369Ter
|
- | 4.0 |
|
B | |
| 30599 | chr4 | 152330778 | T | C |
c.1076A>G
|
p.His359Arg
|
3.0 |
|
B | ||
| 19442 | chr4 | 152330796 | CT | C |
c.1057del
|
p.Ser353ValfsTer24
|
- | 4.0 |
|
B | |
| 8639 | chr4 | 152332635 | C | A |
c.946G>T
|
p.Glu316Ter
|
- | 4.5 |
|
B | |
| 31719 | chr4 | 152332686 | T | C |
c.895A>G
|
p.Lys299Glu
|
3.0 |
|
B | ||
| 28631 | chr4 | 152332722 | A | C |
c.862-3T>G
|
-
|
- | 3.0 |
|
B | |
| 28632 | chr4 | 152332726 | A | T |
c.862-7T>A
|
-
|
- | 3.0 |
|
B | |
| 19516 | chr4 | 152332738 | G | C |
c.862-19C>G
|
-
|
- | 3.0 |
|
B | |
| 2891 | chr4 | 152337831 | G | A |
c.832C>T
|
p.Arg278Ter
|
- | 4.0 |
|
B | |
| 7805 | chr4 | 152337937 | C | T |
c.727-1G>A
|
p.?
|
- | 4.0 |
|
B |