Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22083 | chr4 | 876626 | C | A |
c.1975-17G>T
|
-
|
3.0 |
|
B | ||
| 30103 | chr4 | 877187 | C | T |
c.1877G>A
|
p.Gly626Asp
|
3.0 |
|
B | ||
| 27584 | chr4 | 882006 | G | A |
c.1562C>T
|
p.Ser521Phe
|
- | 3.0 |
|
B | |
| 23329 | chr4 | 882024 | G | A |
c.1544C>T
|
p.Ser515Phe
|
- | 3.0 |
|
B | |
| 18564 | chr4 | 882030 | G | A |
c.1538C>T
|
p.Ala513Val
|
3.0 |
|
B | ||
| 14893 | chr4 | 882038 | G | A |
c.1530C>T
|
p.Asp510=
|
3.0 |
|
B | ||
| 16710 | chr4 | 882729 | C | T |
c.1495G>A
|
p.Asp499Asn
|
- | 3.0 |
|
B | |
| 32366 | chr4 | 883442 | C | A |
c.1277G>T
|
p.Gly426Val
|
3.0 |
|
B | ||
| 33609 | chr4 | 888878 | T | C |
c.1174A>G
|
p.Thr392Ala
|
- | 3.0 |
|
B | |
| 16277 | chr4 | 888964 | G | A |
c.1088C>T
|
p.Ala363Val
|
3.0 |
|
B | ||
| 29080 | chr4 | 893509 | C | T |
c.878-20G>A
|
-
|
3.0 |
|
B | ||
| 17261 | chr4 | 893867 | G | A |
c.877+7C>T
|
-
|
- | 3.0 |
|
B | |
| 19430 | chr4 | 894013 | C | T |
c.742-4G>A
|
-
|
3.0 |
|
B | ||
| 32540 | chr4 | 898154 | TC | T |
c.529del
|
p.Glu177ArgfsTer56
|
- | 3.0 |
|
B | |
| 14745 | chr4 | 913666 | C | T |
c.148G>A
|
p.Gly50Arg
|
- | 3.0 |
|
B | |
| 3629 | chr4 | 1349732 | A | T |
c.307A>T
|
p.Arg103Trp
|
- | 3.0 |
|
B | |
| 11211 | chr4 | 1375375 | G | A |
c.1300G>A
|
p.Ala434Thr
|
- | 3.0 |
|
B | |
| 15994 | chr4 | 1793964 | C | G |
c.30C>G
|
p.Leu10=
|
- | 3.0 |
|
B | |
| 16711 | chr4 | 1799412 | G | A |
c.268G>A
|
p.Gly90Arg
|
- | 3.0 |
|
B | |
| 29830 | chr4 | 1801357 | C | T |
c.446-10C>T
|
-
|
2.5 |
|
B |