Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23127 | chr1 | 36291450 | C | T |
c.1822C>T
|
p.Arg608Cys
|
3.0 |
|
B | ||
| 19935 | chr1 | 36292636 | C | T |
c.1957C>T
|
p.Arg653Cys
|
- | 3.0 |
|
B | |
| 24290 | chr1 | 36293842 | C | G |
c.2031-9C>G
|
-
|
- | 3.0 |
|
B | |
| 25262 | chr1 | 36293859 | AC | A |
c.2040del
|
p.Asp680GlufsTer17
|
- | 3.0 |
|
B | |
| 13797 | chr1 | 36301056 | G | C |
c.2474G>C
|
p.Arg825Thr
|
- | 3.0 |
|
B | |
| 22139 | chr1 | 36303806 | G | A |
c.2657G>A
-
|
p.Arg886His
-
|
3.0 |
|
B | ||
| 27113 | chr1 | 36303862 | C | T |
c.2713C>T
-
|
p.Pro905Ser
-
|
- | 3.0 |
|
B | |
| 13486 | chr1 | 36343272 | C | T |
c.1089+92G>A
|
-
|
3.0 |
|
B | ||
| 32777 | chr1 | 36343371 | G | A |
c.1082C>T
|
p.Ser361Phe
|
- | 3.0 |
|
B | |
| 26238 | chr1 | 36343383 | T | C |
c.1070A>G
|
p.Asn357Ser
|
- | 3.0 |
|
B | |
| 29580 | chr1 | 36344178 | C | T |
c.826G>A
|
p.Asp276Asn
|
- | 3.0 |
|
B | |
| 21832 | chr1 | 36358717 | C | A |
c.198+20G>T
|
-
|
- | 3.0 |
|
B | |
| 15402 | chr1 | 36358816 | CG | C |
c.118del
|
p.Arg40ValfsTer10
|
- | 3.0 |
|
B | |
| 14170 | chr1 | 36466482 | G | A |
c.2386C>T
-
|
p.Pro796Ser
-
|
- | 3.0 |
|
B | |
| 9601 | chr1 | 36466489 | C | A |
c.2379G>T
-
|
p.Gln793His
-
|
- | 3.0 |
|
B | |
| 30773 | chr1 | 36466635 | C | T |
c.2233G>A
-
|
p.Gly745Ser
-
|
- | 3.0 |
|
B | |
| 20945 | chr1 | 36466667 | C | T |
c.2201G>A
-
|
p.Arg734Lys
-
|
- | 3.0 |
|
B | |
| 10173 | chr1 | 36466707 | G | A |
c.2161C>T
-
|
p.Pro721Ser
-
|
3.0 |
|
B | ||
| 17190 | chr1 | 36466809 | C | T |
c.2059G>A
-
|
p.Gly687Ser
-
|
3.0 |
|
B | ||
| 17634 | chr1 | 36467556 | ACTTGGGG | A |
c.1953_1958+1del
-
|
p.?
-
|
- | 3.0 |
|
B |