Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31607 | chr20 | 31798431 | G | A |
c.2012G>A
|
p.Arg671Gln
|
3.0 |
|
B | ||
| 29736 | chr20 | 31798464 | A | T |
c.2045A>T
|
p.Glu682Val
|
- | 3.0 |
|
B | |
| 34824 | chr20 | 31800957 | C | T |
c.2134-13C>T
|
-
|
- | 3.0 |
|
B | |
| 15754 | chr20 | 31800985 | C | T |
c.2149C>T
|
p.Pro717Ser
|
3.0 |
|
B | ||
| 6242 | chr20 | 31801000 | C | T |
c.2164C>T
|
p.Gln722Ter
|
- | 3.0 |
|
B | |
| 31636 | chr20 | 31801039 | G | C |
c.2203G>C
|
p.Val735Leu
|
- | 3.0 |
|
B | |
| 4974 | chr20 | 31801061 | C | T |
c.2225C>T
|
p.Ser742Phe
|
- | 3.0 |
|
B | |
| 34658 | chr20 | 31801075 | T | A |
c.2239T>A
|
p.Cys747Ser
|
- | 3.0 |
|
B | |
| 3752 | chr20 | 31845004 | G | A |
c.539C>T
|
p.Ala180Val
|
- | 3.0 |
|
B | |
| 3340 | chr20 | 31845304 | G | A |
c.239C>T
|
p.Pro80Leu
|
- | 3.0 |
|
B | |
| 8948 | chr20 | 32359783 | G | T |
c.57+951G>T
|
-
|
- | 3.0 |
|
B | |
| 13103 | chr20 | 32369065 | G | A |
c.194G>A
|
p.Arg65Lys
|
- | 3.0 |
|
B | |
| 12550 | chr20 | 32429446 | A | C |
c.565+15A>C
|
-
|
- | 3.0 |
|
B | |
| 31380 | chr20 | 32429909 | G | T |
c.574G>T
|
p.Gly192Cys
|
- | 3.0 |
|
B | |
| 9050 | chr20 | 32431470 | G | A |
c.868G>A
|
p.Glu290Lys
|
- | 3.0 |
|
B | |
| 9051 | chr20 | 32431654 | G | C |
c.954G>C
|
p.Gln318His
|
- | 3.0 |
|
B | |
| 3496 | chr20 | 32432962 | C | T |
c.1062C>T
|
p.Phe354=
|
- | 3.0 |
|
B | |
| 26321 | chr20 | 32433408 | C | T |
c.1210C>T
|
p.Arg404Ter
|
4.5 |
|
B | ||
| 27274 | chr20 | 32433636 | G | A |
c.1438G>A
|
p.Glu480Lys
|
3.0 |
|
B | ||
| 22123 | chr20 | 32433688 | T | G |
c.1490T>G
|
p.Leu497Trp
|
- | 3.0 |
|
B |