Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19807 | chr20 | 51523540 | C | T |
c.701G>A
|
p.Arg234His
|
3.0 |
|
B | ||
| 15755 | chr20 | 51523642 | T | C |
c.599A>G
|
p.Asp200Gly
|
3.0 |
|
B | ||
| 30347 | chr20 | 51523700 | C | G |
c.541G>C
|
p.Asp181His
|
- | 3.0 |
|
B | |
| 19810 | chr20 | 51523991 | CG | C |
c.249del
|
p.Gly84AlafsTer9
|
- | 3.5 |
|
B | |
| 18618 | chr20 | 51524020 | G | A |
c.221C>T
|
p.Pro74Leu
|
- | 3.0 |
|
B | |
| 24773 | chr20 | 51542365 | C | T |
c.130+5G>A
|
-
|
- | 3.0 |
|
B | |
| 28861 | chr20 | 53569270 | G | GA |
c.*24-7dup
|
-
|
3.0 |
|
B | ||
| 552 | chr20 | 53571860 | G | GA |
c.3038-8dup
|
-
|
1.0 |
|
B | ||
| 30887 | chr20 | 53571860 | G | GAA |
c.3038-9_3038-8dup
|
-
|
3.0 |
|
B | ||
| 28279 | chr20 | 53571860 | G | T |
c.3038-7C>A
|
-
|
- | 3.0 |
|
B | |
| 15853 | chr20 | 53571860 | GA | G |
c.3038-8del
|
-
|
3.0 |
|
B | ||
| 28280 | chr20 | 53571861 | A | G |
c.3038-8T>C
|
-
|
2.5 |
|
B | ||
| 6041 | chr20 | 53575836 | GC | G |
c.2927del
|
p.Ser976ThrfsTer9
|
- | 3.0 |
|
B | |
| 26407 | chr20 | 53575882 | T | C |
c.2882A>G
|
p.Tyr961Cys
|
- | 3.0 |
|
B | |
| 26163 | chr20 | 53576018 | G | A |
c.2746C>T
|
p.Leu916Phe
|
- | 3.0 |
|
B | |
| 24463 | chr20 | 53576299 | C | G |
c.2465G>C
|
p.Arg822Thr
|
- | 3.0 |
|
B | |
| 20775 | chr20 | 53576546 | G | A |
c.2218C>T
|
p.His740Tyr
|
3.0 |
|
B | ||
| 9147 | chr20 | 53576549 | C | T |
c.2215G>A
|
p.Val739Ile
|
1.0 |
|
B | ||
| 8477 | chr20 | 53576650 | C | G |
c.2114G>C
|
p.Ser705Thr
|
- | 3.0 |
|
B | |
| 5314 | chr20 | 53576714 | C | T |
c.2050G>A
|
p.Glu684Lys
|
3.0 |
|
B |