Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21288 | chr4 | 1801390 | G | A |
c.469G>A
|
p.Glu157Lys
|
3.0 |
|
B | ||
| 11114 | chr4 | 1801519 | C | G |
c.598C>G
|
p.Arg200Gly
|
- | 3.0 |
|
B | |
| 33585 | chr4 | 1801762 | C | T |
c.739+19C>T
|
-
|
2.0 |
|
B | ||
| 27744 | chr4 | 1801818 | G | A |
c.740-17G>A
|
-
|
2.0 |
|
B | ||
| 5328 | chr4 | 1801841 | C | G |
c.746C>G
|
p.Ser249Cys
|
4.0 |
|
B | ||
| 26081 | chr4 | 1802981 | G | A |
c.931-711G>A
|
-
|
- | 3.0 |
|
B | |
| 15085 | chr4 | 1803755 | G | C |
c.994G>C
|
p.Glu332Gln
|
- | 3.0 |
|
B | |
| 18292 | chr4 | 1803766 | G | A |
c.1005G>A
|
p.Gly335=
|
- | 3.0 |
|
B | |
| 29431 | chr4 | 1804372 | A | G |
c.1118A>G
|
p.Tyr373Cys
|
4.0 |
|
B | ||
| 3988 | chr4 | 1804381 | T | A |
c.1127T>A
|
p.Ile376Asn
|
3.0 |
|
B | ||
| 15176 | chr4 | 1804392 | G | A |
c.1138G>A
|
p.Gly380Arg
|
4.5 |
|
B | ||
| 15576 | chr4 | 1804815 | C | T |
c.1267-9C>T
|
-
|
- | 3.0 |
|
B | |
| 28547 | chr4 | 1805369 | A | T |
c.1427A>T
|
p.Lys476Met
|
- | 3.0 |
|
B | |
| 15177 | chr4 | 1805410 | G | A |
c.1468G>A
|
p.Glu490Lys
|
- | 3.0 |
|
B | |
| 24366 | chr4 | 1805447 | C | A |
c.1505C>A
|
p.Pro502His
|
- | 3.0 |
|
B | |
| 31262 | chr4 | 1805453 | C | A |
c.1511C>A
|
p.Thr504Asn
|
- | 3.0 |
|
B | |
| 23206 | chr4 | 1805594 | T | C |
c.1570T>C
|
p.Ser524Pro
|
- | 3.0 |
|
B | |
| 29743 | chr4 | 1805644 | C | A |
c.1620C>A
|
p.Asn540Lys
|
4.0 |
|
B | ||
| 10693 | chr4 | 1805746 | C | T |
c.1646-4C>T
|
-
|
2.0 |
|
B | ||
| 21217 | chr4 | 1805837 | C | T |
c.1733C>T
|
p.Ser578Phe
|
2.5 |
|
B |