Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35618 | chr20 | 50581473 | T | C |
-
c.1284+13T>C
|
-
-
|
- | 3.0 |
|
B | |
| 3755 | chr20 | 50602596 | T | A |
c.1135A>T
|
p.Arg379Trp
|
- | 3.0 |
|
B | |
| 17900 | chr20 | 51391446 | C | T |
c.*50G>A
|
-
|
3.0 |
|
B | ||
| 21662 | chr20 | 51391464 | A | C |
c.*45-13T>G
|
-
|
- | 3.0 |
|
B | |
| 34535 | chr20 | 51391469 | A | AG |
c.*45-19dup
|
-
|
1.0 |
|
B | ||
| 13201 | chr20 | 51432083 | C | G |
c.2706G>C
|
p.Gln902His
|
- | 3.0 |
|
B | |
| 31794 | chr20 | 51432088 | C | A |
c.2701G>T
|
p.Asp901Tyr
|
- | 3.0 |
|
B | |
| 20430 | chr20 | 51432183 | G | A |
c.2606C>T
|
p.Ala869Val
|
- | 3.0 |
|
B | |
| 14806 | chr20 | 51435698 | G | A |
c.1905+8C>T
|
-
|
3.0 |
|
B | ||
| 29086 | chr20 | 51435745 | C | T |
c.1866G>A
|
p.Trp622Ter
|
- | 3.5 |
|
B | |
| 30346 | chr20 | 51474012 | G | C |
c.1676C>G
|
p.Ser559Cys
|
3.0 |
|
B | ||
| 30712 | chr20 | 51475493 | C | G |
c.1500G>C
|
p.Glu500Asp
|
- | 3.0 |
|
B | |
| 19850 | chr20 | 51475545 | G | GT |
c.1447dup
|
p.Thr483AsnfsTer8
|
3.5 |
|
B | ||
| 34659 | chr20 | 51475680 | A | G |
c.1333-20T>C
|
-
|
3.0 |
|
B | ||
| 13073 | chr20 | 51516896 | G | A |
c.1220C>T
|
p.Ser407Phe
|
3.0 |
|
B | ||
| 34356 | chr20 | 51523235 | G | A |
c.1006C>T
|
p.Pro336Ser
|
- | 3.0 |
|
B | |
| 20185 | chr20 | 51523280 | T | TG |
c.960dup
|
p.Lys321GlnfsTer8
|
3.5 |
|
B | ||
| 22970 | chr20 | 51523444 | C | T |
c.797G>A
|
p.Gly266Glu
|
3.0 |
|
B | ||
| 12648 | chr20 | 51523472 | C | A |
c.769G>T
|
p.Ala257Ser
|
3.0 |
|
B | ||
| 16246 | chr20 | 51523486 | C | T |
c.755G>A
|
p.Arg252Gln
|
3.0 |
|
B |