Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24629 | chr20 | 46122691 | G | T |
c.338G>T
|
p.Ser113Ile
|
- | 3.0 |
|
B | |
| 27893 | chr20 | 46123138 | C | T |
c.416C>T
|
p.Ser139Phe
|
- | 3.0 |
|
B | |
| 22969 | chr20 | 46128164 | G | A |
c.586G>A
|
p.Val196Met
|
- | 3.0 |
|
B | |
| 17816 | chr20 | 46128900 | G | A |
c.694G>A
|
p.Glu232Lys
|
3.0 |
|
B | ||
| 16859 | chr20 | 46128999 | G | A |
c.793G>A
|
p.Asp265Asn
|
- | 3.0 |
|
B | |
| 19347 | chr20 | 47624064 | A | G |
c.237A>G
|
p.Ile79Met
|
- | 3.0 |
|
B | |
| 22440 | chr20 | 47627583 | T | G |
c.555T>G
|
p.Asn185Lys
|
- | 3.0 |
|
B | |
| 28674 | chr20 | 47627725 | C | T |
c.697C>T
|
p.Arg233Ter
|
3.0 |
|
B | ||
| 10164 | chr20 | 47627938 | G | T |
c.738G>T
|
p.Met246Ile
|
- | 3.0 |
|
B | |
| 31421 | chr20 | 47633478 | C | T |
c.824-18C>T
|
-
|
3.0 |
|
B | ||
| 19147 | chr20 | 47633526 | T | G |
c.854T>G
|
p.Leu285Arg
|
- | 3.0 |
|
B | |
| 2938 | chr20 | 47635450 | G | C |
c.1241G>C
|
p.Ser414Thr
|
- | 3.0 |
|
B | |
| 14763 | chr20 | 47635573 | A | G |
c.1364A>G
|
p.Gln455Arg
|
- | 3.0 |
|
B | |
| 14111 | chr20 | 47635659 | C | T |
c.1450C>T
|
p.Pro484Ser
|
3.0 |
|
B | ||
| 9350 | chr20 | 47636040 | C | T |
c.1654C>T
|
p.Pro552Ser
|
3.0 |
|
B | ||
| 30208 | chr20 | 47636352 | C | T |
c.1966C>T
|
p.Pro656Ser
|
- | 3.0 |
|
B | |
| 34231 | chr20 | 47636387 | A | AT |
c.2002dup
|
p.Ser668PhefsTer30
|
- | 3.0 |
|
B | |
| 20860 | chr20 | 47636740 | T | C |
c.2354T>C
|
p.Ile785Thr
|
- | 3.0 |
|
B | |
| 28506 | chr20 | 47637753 | C | T |
c.2482C>T
|
p.Gln828Ter
|
- | 3.0 |
|
B | |
| 25200 | chr20 | 47639040 | C | T |
c.2545C>T
|
p.Arg849Cys
|
3.0 |
|
B |