Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22795 | chr20 | 32436536 | C | G |
c.3824C>G
|
p.Ser1275Ter
|
- | 4.0 |
|
B | |
| 4382 | chr20 | 32436577 | C | T |
c.3865C>T
|
p.Arg1289Trp
|
3.0 |
|
B | ||
| 26047 | chr20 | 32436640 | G | A |
c.3928G>A
|
p.Val1310Met
|
- | 3.0 |
|
B | |
| 9167 | chr20 | 32437157 | C | T |
c.4445C>T
|
p.Ala1482Val
|
3.0 |
|
B | ||
| 29166 | chr20 | 32437168 | G | A |
c.4456G>A
|
p.Ala1486Thr
|
- | 3.0 |
|
B | |
| 29167 | chr20 | 32437169 | C | T |
c.4457C>T
|
p.Ala1486Val
|
- | 3.0 |
|
B | |
| 34355 | chr20 | 32437220 | C | T |
c.4508C>T
|
p.Ser1503Leu
|
- | 3.0 |
|
B | |
| 21245 | chr20 | 32780369 | G | A |
c.46G>A
|
p.Gly16Arg
|
3.0 |
|
B | ||
| 24189 | chr20 | 32780390 | G | A |
c.67G>A
|
p.Val23Ile
|
3.0 |
|
B | ||
| 15477 | chr20 | 32781368 | C | T |
c.158C>T
|
p.Ser53Leu
|
3.0 |
|
B | ||
| 33268 | chr20 | 32781421 | T | C |
c.204+7T>C
|
-
|
- | 3.0 |
|
B | |
| 23347 | chr20 | 32781432 | C | T |
c.204+18C>T
|
-
|
- | 3.0 |
|
B | |
| 13052 | chr20 | 32784778 | CG | C |
c.229del
|
p.Glu77LysfsTer70
|
- | 4.0 |
|
B | |
| 23348 | chr20 | 32786491 | C | T |
c.307-11C>T
|
-
|
- | 3.0 |
|
B | |
| 11663 | chr20 | 32786559 | C | T |
c.364C>T
|
p.Arg122Cys
|
3.0 |
|
B | ||
| 7978 | chr20 | 32787240 | G | A |
c.443G>A
|
p.Arg148Gln
|
3.0 |
|
B | ||
| 13200 | chr20 | 32787242 | C | T |
c.445C>T
|
p.Arg149Trp
|
3.0 |
|
B | ||
| 22406 | chr20 | 32787405 | C | T |
c.608C>T
|
p.Pro203Leu
|
2.5 |
|
B | ||
| 12987 | chr20 | 32788876 | G | A |
c.677G>A
|
p.Gly226Glu
|
3.0 |
|
B | ||
| 9928 | chr20 | 32788916 | GC | G |
c.720del
|
p.Ala241ProfsTer89
|
- | 4.0 |
|
B |