Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22027 | chr20 | 42161553 | A | AAGG |
c.2492-14_2492-12dup
|
-
|
- | 3.0 |
|
B | |
| 21703 | chr20 | 42199225 | G | T |
c.2491+15C>A
|
-
|
- | 3.0 |
|
B | |
| 8860 | chr20 | 42199301 | C | A |
c.2430G>T
|
p.Lys810Asn
|
- | 3.0 |
|
B | |
| 7979 | chr20 | 42199302 | T | G |
c.2429A>C
|
p.Lys810Thr
|
- | 3.0 |
|
B | |
| 14235 | chr20 | 42199351 | C | T |
c.2380G>A
|
p.Ala794Thr
|
- | 3.0 |
|
B | |
| 8910 | chr20 | 42199390 | T | G |
c.2343-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 5842 | chr20 | 42248775 | C | T |
c.2224G>A
|
p.Asp742Asn
|
3.0 |
|
B | ||
| 18714 | chr20 | 42248827 | G | T |
c.2177-5C>A
|
-
|
- | 3.0 |
|
B | |
| 22409 | chr20 | 42248830 | G | A |
c.2177-8C>T
|
-
|
3.0 |
|
B | ||
| 12679 | chr20 | 42248832 | G | A |
c.2177-10C>T
|
-
|
- | 3.0 |
|
B | |
| 13646 | chr20 | 42248838 | G | A |
c.2177-16C>T
|
-
|
- | 3.0 |
|
B | |
| 26896 | chr20 | 42270379 | C | A |
c.2176+12110G>T
|
-
|
- | 3.0 |
|
B | |
| 25104 | chr20 | 42282504 | G | A |
c.2161C>T
|
p.Arg721Cys
|
3.0 |
|
B | ||
| 24852 | chr20 | 42315719 | T | G |
c.2139+4A>C
|
-
|
- | 3.0 |
|
B | |
| 20183 | chr20 | 42315850 | G | T |
c.2012C>A
|
p.Ala671Asp
|
3.0 |
|
B | ||
| 16858 | chr20 | 42315949 | C | T |
c.1913G>A
|
p.Arg638Lys
|
- | 3.0 |
|
B | |
| 22460 | chr20 | 42315953 | G | A |
c.1909C>T
|
p.Arg637Trp
|
3.0 |
|
B | ||
| 12849 | chr20 | 42316011 | G | A |
c.1866-15C>T
|
-
|
- | 3.0 |
|
B | |
| 11777 | chr20 | 42350704 | C | A |
c.1789G>T
|
p.Asp597Tyr
|
3.0 |
|
B | ||
| 3896 | chr20 | 42350718 | G | T |
c.1775C>A
|
p.Pro592His
|
- | 3.0 |
|
B |