Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33310 | chr1 | 11127800 | C | T |
c.6040G>A
|
p.Glu2014Lys
|
3.5 |
|
B | ||
| 5985 | chr1 | 11128036 | G | C |
c.6001C>G
|
p.His2001Asp
|
- | 3.0 |
|
B | |
| 11064 | chr1 | 11128125 | G | A |
c.5912C>T
|
p.Ala1971Val
|
- | 4.0 |
|
B | |
| 35633 | chr1 | 11130524 | G | A |
c.5613+5C>T
|
-
|
- | 3.0 |
|
B | |
| 18213 | chr1 | 11130554 | G | A |
c.5588C>T
|
p.Ser1863Leu
|
2.5 |
|
B | ||
| 34992 | chr1 | 11130615 | T | A |
c.5527A>T
|
p.Ser1843Cys
|
- | 3.0 |
|
B | |
| 2086 | chr1 | 11130640 | CGTGGTGGCGGCA | C |
c.5490_5501del
|
p.Thr1834_Thr1837del
|
2.0 |
|
B | ||
| 82 | chr1 | 11130747 | C | T |
c.5395G>A
|
p.Glu1799Lys
|
4.67 |
|
A | ||
| 6581 | chr1 | 11130782 | T | C |
c.5365-5A>G
|
-
|
3.0 |
|
B | ||
| 590 | chr1 | 11133159 | T | C |
c.5285A>G
|
p.Gln1762Arg
|
- | 3.0 |
|
B | |
| 23912 | chr1 | 11134358 | T | G |
c.5239A>C
|
p.Met1747Leu
|
- | 3.0 |
|
B | |
| 23013 | chr1 | 11134452 | C | A |
c.5145G>T
|
p.Gln1715His
|
- | 3.0 |
|
B | |
| 14046 | chr1 | 11139350 | T | G |
c.5084A>C
|
p.Gln1695Pro
|
- | 3.0 |
|
B | |
| 10301 | chr1 | 11139414 | C | G |
c.5020G>C
|
p.Val1674Leu
|
- | 3.0 |
|
B | |
| 10032 | chr1 | 11139622 | G | A |
c.4909C>T
|
p.Leu1637Phe
|
- | 3.0 |
|
B | |
| 11873 | chr1 | 11144642 | G | A |
c.4872+6C>T
|
-
|
- | 3.0 |
|
B | |
| 7601 | chr1 | 11144673 | C | T |
c.4847G>A
|
p.Arg1616His
|
2.5 |
|
B | ||
| 7125 | chr1 | 11144754 | G | T |
c.4766C>A
|
p.Ala1589Asp
|
- | 3.0 |
|
B | |
| 12140 | chr1 | 11150119 | G | A |
c.4570+7C>T
|
-
|
- | 3.0 |
|
B | |
| 10595 | chr1 | 11150177 | C | T |
c.4519G>A
|
p.Glu1507Lys
|
- | 3.0 |
|
B |