Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31941 | chr20 | 20052277 | C | A |
-
c.51+15G>T
|
-
-
|
- | 3.0 |
|
B | |
| 18616 | chr20 | 20052450 | G | A |
-
c.-108C>T
|
-
-
|
3.0 |
|
B | ||
| 3495 | chr20 | 20052456 | G | A |
-
c.-114C>T
|
-
-
|
3.0 |
|
B | ||
| 17420 | chr20 | 20052521 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 32907 | chr20 | 20052729 | G | A |
c.-37+138G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 13866 | chr20 | 20052748 | C | A |
c.-37+157C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 17122 | chr20 | 21333688 | T | G |
c.934-16T>G
|
-
|
- | 3.0 |
|
B | |
| 11515 | chr20 | 22581868 | G | A |
c.1374C>T
|
p.Pro458=
|
- | 3.0 |
|
B | |
| 17536 | chr20 | 22581932 | G | A |
c.1310C>T
|
p.Thr437Met
|
3.0 |
|
B | ||
| 24538 | chr20 | 22581962 | C | T |
c.1280G>A
|
p.Ser427Asn
|
- | 3.0 |
|
B | |
| 14527 | chr20 | 22582009 | G | A |
c.1233C>T
|
p.Tyr411=
|
- | 3.0 |
|
B | |
| 20181 | chr20 | 22582060 | G | C |
c.1182C>G
|
p.His394Gln
|
- | 3.0 |
|
B | |
| 2444 | chr20 | 22582094 | G | T |
c.1148C>A
|
p.Ser383Tyr
|
- | 3.0 |
|
B | |
| 4934 | chr20 | 22582106 | T | C |
c.1136A>G
|
p.Asn379Ser
|
- | 3.0 |
|
B | |
| 5313 | chr20 | 22582155 | C | T |
c.1087G>A
|
p.Gly363Ser
|
- | 3.0 |
|
B | |
| 10062 | chr20 | 22582166 | GGCGGGCCCAGCAGGTGGGCC | G |
c.1056_1075del
|
p.Ala353ProfsTer8
|
- | 3.0 |
|
B | |
| 16548 | chr20 | 22582251 | T | C |
c.991A>G
|
p.Thr331Ala
|
- | 3.0 |
|
B | |
| 12774 | chr20 | 22582256 | T | C |
c.986A>G
|
p.Lys329Arg
|
- | 3.0 |
|
B | |
| 24873 | chr20 | 22582404 | T | A |
c.838A>T
|
p.Lys280Ter
|
- | 3.0 |
|
B | |
| 30423 | chr20 | 22582425 | C | T |
c.817G>A
|
p.Ala273Thr
|
3.0 |
|
B |