Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30496 | chr13 | 35668470 | C | T |
c.8764C>T
|
p.Pro2922Ser
|
- | 3.0 |
|
B | |
| 14390 | chr13 | 35668474 | G | A |
c.8768G>A
|
p.Gly2923Glu
|
- | 3.0 |
|
B | |
| 21043 | chr13 | 35668514 | C | A |
c.8808C>A
|
p.Asp2936Glu
|
- | 3.0 |
|
B | |
| 20389 | chr13 | 35670936 | T | C |
c.8849T>C
|
p.Val2950Ala
|
- | 3.0 |
|
B | |
| 3486 | chr13 | 39042277 | G | T |
-
c.558G>T
|
-
p.Leu186Phe
|
- | 3.0 |
|
B | |
| 3487 | chr13 | 39042285 | G | T |
-
c.566G>T
|
-
p.Arg189Ile
|
- | 3.0 |
|
B | |
| 4742 | chr13 | 39047918 | G | A |
c.1036G>A
|
p.Gly346Ser
|
- | 3.0 |
|
B | |
| 31413 | chr13 | 39343961 | T | G |
c.578A>C
|
p.Lys193Thr
|
- | 3.0 |
|
B | |
| 33290 | chr13 | 39378512 | C | A |
c.400G>T
|
p.Ala134Ser
|
- | 3.0 |
|
B | |
| 16006 | chr13 | 39600825 | C | T |
c.385+7G>A
|
-
|
- | 3.0 |
|
B | |
| 26619 | chr13 | 39600922 | C | T |
c.295G>A
|
p.Val99Met
|
- | 3.0 |
|
B | |
| 32538 | chr13 | 39600928 | G | A |
c.289C>T
|
p.Leu97Phe
|
3.0 |
|
B | ||
| 23077 | chr13 | 39601145 | G | A |
c.72C>T
|
p.Cys24=
|
3.0 |
|
B | ||
| 18329 | chr13 | 40559752 | G | A |
c.1739C>T
|
p.Ser580Phe
|
- | 3.0 |
|
B | |
| 17805 | chr13 | 40560274 | G | A |
c.1217C>T
|
p.Ser406Leu
|
3.0 |
|
B | ||
| 26341 | chr13 | 40560472 | T | C |
c.1019A>G
|
p.Glu340Gly
|
- | 3.0 |
|
B | |
| 34703 | chr13 | 40560491 | C | T |
c.1000G>A
|
p.Glu334Lys
|
3.0 |
|
B | ||
| 30767 | chr13 | 40560756 | C | CT |
c.734dup
|
p.Ser246GlufsTer6
|
- | 4.0 |
|
B | |
| 22925 | chr13 | 40665681 | C | T |
c.532G>A
|
p.Glu178Lys
|
- | 3.0 |
|
B | |
| 31331 | chr13 | 40665686 | G | A |
c.527C>T
|
p.Ser176Leu
|
- | 3.0 |
|
B |