Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17396 | chr18 | 12794493 | G | A |
c.1041-8C>T
|
-
|
- | 3.0 |
|
B | |
| 27915 | chr18 | 12814235 | C | T |
c.826G>A
|
p.Ala276Thr
|
3.0 |
|
B | ||
| 32970 | chr18 | 12817215 | A | G |
c.646T>C
|
p.Cys216Arg
|
- | 3.0 |
|
B | |
| 16841 | chr18 | 12819234 | C | T |
c.496-1869G>A
|
-
|
- | 3.0 |
|
B | |
| 16946 | chr18 | 12830924 | A | T |
c.360+19T>A
|
-
|
- | 3.0 |
|
B | |
| 25005 | chr18 | 12836861 | G | T |
c.191C>A
|
p.Ala64Asp
|
- | 3.0 |
|
B | |
| 14078 | chr18 | 12836894 | G | A |
c.161-3C>T
|
-
|
3.0 |
|
B | ||
| 29455 | chr18 | 12859265 | C | T |
c.70-11G>A
|
-
|
- | 3.0 |
|
B | |
| 3457 | chr18 | 13095669 | G | A |
c.6421G>A
|
p.Ala2141Thr
|
3.0 |
|
B | ||
| 5224 | chr18 | 13826277 | C | T |
c.512C>T
|
p.Thr171Met
|
3.0 |
|
B | ||
| 4861 | chr18 | 14757879 | AATGTT | A |
c.683_687del
|
p.Asn228ArgfsTer5
|
- | 3.0 |
|
B | |
| 4862 | chr18 | 14757890 | C | CAACAT |
c.693_694insAACAT
|
p.Phe232AsnfsTer10
|
- | 3.0 |
|
B | |
| 31327 | chr18 | 22171235 | G | A |
c.91G>A
|
p.Glu31Lys
|
3.0 |
|
B | ||
| 3801 | chr18 | 22171270 | G | A |
c.126G>A
|
p.Ser42=
|
3.0 |
|
B | ||
| 24882 | chr18 | 22171291 | C | T |
c.147C>T
|
p.Gly49=
|
3.0 |
|
B | ||
| 34186 | chr18 | 22171293 | G | T |
c.149G>T
|
p.Gly50Val
|
3.0 |
|
B | ||
| 23686 | chr18 | 22171298 | C | T |
c.154C>T
|
p.Arg52Trp
|
- | 3.0 |
|
B | |
| 26365 | chr18 | 22171393 | C | G |
c.249C>G
|
p.Tyr83Ter
|
- | 3.0 |
|
B | |
| 23318 | chr18 | 22171677 | C | T |
c.533C>T
|
p.Ala178Val
|
2.0 |
|
B | ||
| 17057 | chr18 | 22172075 | A | C |
c.931A>C
|
p.Ser311Arg
|
3.0 |
|
B |