Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35036 | chr20 | 42116079 | A | T |
c.2983-764T>A
|
-
|
- | 3.0 |
|
B | |
| 35488 | chr20 | 42116091 | G | A |
c.2983-776C>T
|
-
|
3.0 |
|
B | ||
| 18938 | chr20 | 42118494 | A | T |
c.2891T>A
|
p.Met964Lys
|
- | 3.0 |
|
B | |
| 7908 | chr20 | 42118503 | G | A |
c.2885-3C>T
|
-
|
3.0 |
|
B | ||
| 15988 | chr20 | 42141939 | T | C |
c.2746A>G
|
p.Asn916Asp
|
- | 3.0 |
|
B | |
| 9572 | chr20 | 42141948 | G | A |
c.2737C>T
|
p.Arg913Cys
|
3.0 |
|
B | ||
| 22411 | chr20 | 42141954 | C | T |
c.2731G>A
|
p.Glu911Lys
|
- | 3.0 |
|
B | |
| 10319 | chr20 | 42141973 | C | T |
c.2712G>A
|
p.Trp904Ter
|
- | 4.0 |
|
B | |
| 11791 | chr20 | 42141977 | G | A |
c.2708C>T
|
p.Ser903Leu
|
3.0 |
|
B | ||
| 15719 | chr20 | 42161334 | C | T |
c.2682+18G>A
|
-
|
- | 3.0 |
|
B | |
| 23832 | chr20 | 42161345 | C | T |
c.2682+7G>A
|
-
|
- | 3.0 |
|
B | |
| 29675 | chr20 | 42161352 | C | T |
c.2682G>A
|
p.Glu894=
|
3.0 |
|
B | ||
| 2286 | chr20 | 42161391 | C | T |
c.2643G>A
|
p.Met881Ile
|
- | 3.0 |
|
B | |
| 31312 | chr20 | 42161447 | C | T |
c.2587G>A
|
p.Asp863Asn
|
- | 3.0 |
|
B | |
| 21431 | chr20 | 42161452 | G | C |
c.2582C>G
|
p.Pro861Arg
|
- | 3.0 |
|
B | |
| 2025 | chr20 | 42161503 | G | A |
c.2531C>T
|
p.Thr844Met
|
3.0 |
|
B | ||
| 6703 | chr20 | 42161514 | C | A |
c.2520G>T
|
p.Gln840His
|
- | 3.0 |
|
B | |
| 6315 | chr20 | 42161522 | G | C |
c.2512C>G
|
p.Leu838Val
|
- | 3.0 |
|
B | |
| 12921 | chr20 | 42161531 | G | A |
c.2503C>T
|
p.Arg835Cys
|
3.0 |
|
B | ||
| 22410 | chr20 | 42161552 | G | A |
c.2492-10C>T
|
-
|
- | 3.0 |
|
B |