Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1251 | chr20 | 56370220 | T | C |
c.1150A>G
-
|
p.Thr384Ala
-
|
- | 3.0 |
|
B | |
| 21246 | chr20 | 56370298 | C | T |
c.1072G>A
-
|
p.Asp358Asn
-
|
- | 3.0 |
|
B | |
| 6629 | chr20 | 56370495 | C | G |
c.1019G>C
-
|
p.Arg340Thr
-
|
3.0 |
|
B | ||
| 9689 | chr20 | 56370619 | C | G |
c.895G>C
-
|
p.Glu299Gln
-
|
- | 3.0 |
|
B | |
| 34496 | chr20 | 56381423 | G | A |
c.705+10C>T
|
-
|
- | 3.0 |
|
B | |
| 7920 | chr20 | 56384276 | G | A |
c.368C>T
|
p.Ser123Leu
|
- | 3.0 |
|
B | |
| 1510 | chr20 | 56386362 | G | A |
c.214C>T
|
p.Gln72Ter
|
- | 3.0 |
|
B | |
| 11011 | chr20 | 56386485 | A | T |
c.91T>A
|
p.Phe31Ile
|
1.0 |
|
B | ||
| 3325 | chr20 | 57610295 | C | T |
c.947G>A
|
p.Gly316Glu
|
3.0 |
|
B | ||
| 25512 | chr20 | 58840087 | C | A |
-
|
-
|
- | 3.0 |
|
B | |
| 1116 | chr20 | 58840138 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 21753 | chr20 | 58840160 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 7686 | chr20 | 58840192 | C | A |
-
|
-
|
- | 3.0 |
|
B | |
| 23253 | chr20 | 58840196 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 29575 | chr20 | 58840258 | G | A |
-
|
-
|
3.0 |
|
B | ||
| 2708 | chr20 | 58840323 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 6744 | chr20 | 58840400 | C | T |
-
|
-
|
1.0 |
|
B | ||
| 2989 | chr20 | 58840533 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 1812 | chr20 | 58840758 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 6920 | chr20 | 58840837 | G | A |
-
|
-
|
- | 3.0 |
|
B |