Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34195 | chr1 | 119950716 | G | C |
c.2479+8C>G
|
-
|
- | 3.0 |
|
B | |
| 27127 | chr1 | 119950747 | C | A |
c.2456G>T
|
p.Cys819Phe
|
- | 3.0 |
|
B | |
| 30062 | chr1 | 119950778 | T | C |
c.2425A>G
|
p.Thr809Ala
|
- | 3.0 |
|
B | |
| 21741 | chr1 | 119953680 | C | A |
c.2228G>T
|
p.Cys743Phe
|
- | 3.0 |
|
B | |
| 16011 | chr1 | 119955044 | T | G |
c.2215A>C
|
p.Ser739Arg
|
- | 3.0 |
|
B | |
| 13968 | chr1 | 119955229 | T | G |
c.2030A>C
|
p.Gln677Pro
|
- | 3.0 |
|
B | |
| 14886 | chr1 | 119959374 | C | G |
c.2026+18G>C
|
-
|
- | 3.0 |
|
B | |
| 2278 | chr1 | 119965516 | G | A |
c.1618C>T
|
p.Pro540Ser
|
- | 3.0 |
|
B | |
| 10597 | chr1 | 119967508 | A | C |
c.1378T>G
|
p.Cys460Gly
|
- | 3.0 |
|
B | |
| 10179 | chr1 | 119969541 | A | C |
c.1078T>G
|
p.Phe360Val
|
- | 3.0 |
|
B | |
| 10295 | chr1 | 119969624 | C | A |
c.995G>T
|
p.Gly332Val
|
- | 3.0 |
|
B | |
| 14578 | chr1 | 119986964 | C | T |
c.870G>A
|
p.Trp290Ter
|
- | 4.0 |
|
B | |
| 32348 | chr1 | 119987028 | C | T |
c.806G>A
|
p.Cys269Tyr
|
- | 3.0 |
|
B | |
| 9732 | chr1 | 119997039 | G | C |
c.709C>G
|
p.Arg237Gly
|
- | 3.0 |
|
B | |
| 25177 | chr1 | 119997210 | C | A |
c.538G>T
|
p.Glu180Ter
|
- | 4.0 |
|
B | |
| 604 | chr1 | 119997222 | C | G |
c.526G>C
|
p.Gly176Arg
|
- | 3.0 |
|
B | |
| 32681 | chr1 | 119997332 | C | A |
c.416G>T
|
p.Gly139Val
|
- | 3.0 |
|
B | |
| 8925 | chr1 | 120005406 | C | A |
c.338G>T
|
p.Arg113Leu
|
- | 3.0 |
|
B | |
| 556 | chr1 | 120005472 | C | A |
c.272G>T
|
p.Arg91Leu
|
1.5 |
|
B | ||
| 26167 | chr1 | 120069346 | C | T |
c.61G>A
|
p.Ala21Thr
|
2.5 |
|
B |