Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31549 | chr20 | 23036282 | G | A |
c.799G>A
|
p.Val267Ile
|
- | 3.0 |
|
B | |
| 25007 | chr20 | 23036476 | C | A |
c.993C>A
|
p.Cys331Ter
|
- | 3.0 |
|
B | |
| 31187 | chr20 | 31666067 | T | C |
c.584A>G
|
p.Tyr195Cys
|
- | 3.0 |
|
B | |
| 1674 | chr20 | 31721774 | C | T |
c.445G>A
|
p.Ala149Thr
|
- | 3.0 |
|
B | |
| 8743 | chr20 | 31721976 | G | C |
c.243C>G
|
p.Ile81Met
|
- | 3.0 |
|
B | |
| 7653 | chr20 | 31722084 | C | A |
c.135G>T
|
p.Met45Ile
|
- | 3.0 |
|
B | |
| 3230 | chr20 | 31722105 | TGGGGCCTCAGTCCTGTTCTCTTC | T |
c.91_113del
|
p.Glu31ArgfsTer4
|
- | 3.0 |
|
B | |
| 8808 | chr20 | 31757486 | G | A |
c.10G>A
|
p.Val4Ile
|
- | 3.0 |
|
B | |
| 29735 | chr20 | 31757517 | C | T |
c.41C>T
|
p.Ser14Leu
|
3.0 |
|
B | ||
| 15494 | chr20 | 31757598 | C | A |
c.106+16C>A
|
-
|
- | 3.0 |
|
B | |
| 17146 | chr20 | 31770474 | G | T |
c.485+3G>T
|
-
|
- | 3.0 |
|
B | |
| 25580 | chr20 | 31775870 | G | C |
c.612G>C
|
p.Gln204His
|
- | 3.0 |
|
B | |
| 27605 | chr20 | 31777543 | C | T |
c.787C>T
|
p.Arg263Cys
|
3.0 |
|
B | ||
| 17421 | chr20 | 31777566 | A | T |
c.810A>T
|
p.Gln270His
|
- | 3.0 |
|
B | |
| 20630 | chr20 | 31777612 | G | C |
c.856G>C
|
p.Glu286Gln
|
- | 3.0 |
|
B | |
| 30463 | chr20 | 31778939 | C | T |
c.1009C>T
|
p.Arg337Ter
|
3.0 |
|
B | ||
| 20914 | chr20 | 31792807 | C | T |
c.1486C>T
|
p.Arg496Ter
|
3.0 |
|
B | ||
| 14809 | chr20 | 31793842 | C | T |
c.1510-6C>T
|
-
|
- | 3.0 |
|
B | |
| 34422 | chr20 | 31794019 | G | T |
c.1681G>T
|
p.Gly561Trp
|
- | 3.0 |
|
B | |
| 35460 | chr20 | 31794430 | C | CT |
c.1716dup
|
p.His573SerfsTer3
|
- | 3.0 |
|
B |