Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26649 | chr1 | 6197724 | C | CT |
c.44dup
|
p.Lys16GlufsTer9
|
4.0 |
|
B | ||
| 2270 | chr1 | 6197724 | CT | C |
c.44del
|
p.Lys15ArgfsTer5
|
4.0 |
|
B | ||
| 5103 | chr1 | 6197766 | T | C |
c.13-10A>G
|
-
|
1.0 |
|
B | ||
| 18431 | chr1 | 6887681 | G | A |
c.234+62471G>A
|
-
|
3.0 |
|
B | ||
| 26296 | chr1 | 7249541 | G | A |
c.353G>A
|
p.Arg118Lys
|
- | 3.0 |
|
B | |
| 15503 | chr1 | 7640526 | G | T |
c.637G>T
|
p.Glu213Ter
|
- | 4.0 |
|
B | |
| 30040 | chr1 | 7661767 | T | C |
c.706T>C
|
p.Ser236Pro
|
- | 3.0 |
|
B | |
| 23204 | chr1 | 7661874 | G | A |
c.805+8G>A
|
-
|
2.5 |
|
B | ||
| 12367 | chr1 | 7663398 | G | A |
c.851G>A
|
p.Arg284His
|
3.0 |
|
B | ||
| 21107 | chr1 | 7663511 | A | C |
c.964A>C
|
p.Ser322Arg
|
- | 3.0 |
|
B | |
| 7315 | chr1 | 7663584 | C | T |
c.1037C>T
|
p.Thr346Ile
|
- | 3.0 |
|
B | |
| 20791 | chr1 | 7664001 | C | T |
c.1454C>T
|
p.Pro485Leu
|
- | 3.0 |
|
B | |
| 17502 | chr1 | 7664126 | G | A |
c.1579G>A
|
p.Val527Ile
|
3.0 |
|
B | ||
| 19493 | chr1 | 7664214 | C | T |
c.1667C>T
|
p.Ala556Val
|
- | 3.0 |
|
B | |
| 14890 | chr1 | 7664429 | G | A |
c.1882G>A
|
p.Glu628Lys
|
3.0 |
|
B | ||
| 7281 | chr1 | 7664472 | T | A |
c.1925T>A
|
p.Phe642Tyr
|
- | 3.0 |
|
B | |
| 29481 | chr1 | 7664507 | C | T |
c.1960C>T
|
p.Gln654Ter
|
- | 4.0 |
|
B | |
| 14433 | chr1 | 7664526 | G | A |
c.1979G>A
|
p.Gly660Asp
|
- | 3.0 |
|
B | |
| 14565 | chr1 | 7664559 | C | T |
c.2012C>T
|
p.Ser671Phe
|
- | 3.0 |
|
B | |
| 29777 | chr1 | 7664709 | C | T |
c.2162C>T
|
p.Pro721Leu
|
3.0 |
|
B |