Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34295 | chr13 | 48345120 | A | G |
c.421A>G
|
p.Ser141Gly
|
3.0 |
|
B | ||
| 34040 | chr13 | 48345145 | C | CA |
c.448dup
|
p.Arg150LysfsTer7
|
- | 4.0 |
|
B | |
| 2702 | chr13 | 48348954 | A | T |
c.540-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 12468 | chr13 | 48348976 | CT | C |
c.561del
|
p.Ala188HisfsTer4
|
- | 4.0 |
|
B | |
| 31921 | chr13 | 48348997 | C | CT |
c.583dup
|
p.Trp195LeufsTer8
|
- | 4.0 |
|
B | |
| 5597 | chr13 | 48349012 | T | A |
c.596T>A
|
p.Leu199Ter
|
4.5 |
|
B | ||
| 11979 | chr13 | 48349012 | T | G |
c.596T>G
|
p.Leu199Ter
|
- | 4.0 |
|
B | |
| 21751 | chr13 | 48360026 | T | G |
c.617T>G
|
p.Leu206Ter
|
- | 4.0 |
|
B | |
| 22926 | chr13 | 48360046 | G | A |
c.637G>A
|
p.Val213Met
|
3.0 |
|
B | ||
| 3855 | chr13 | 48360058 | C | T |
c.649C>T
|
p.Gln217Ter
|
- | 4.0 |
|
B | |
| 5911 | chr13 | 48362825 | TA | T |
c.730del
|
p.Ile244TyrfsTer20
|
- | 4.0 |
|
B | |
| 21427 | chr13 | 48362847 | C | T |
c.751C>T
|
p.Arg251Ter
|
4.5 |
|
B | ||
| 20668 | chr13 | 48362859 | C | T |
c.763C>T
|
p.Arg255Ter
|
4.5 |
|
B | ||
| 849 | chr13 | 48362860 | G | T |
c.764G>T
|
p.Arg255Leu
|
- | 3.0 |
|
B | |
| 31991 | chr13 | 48362864 | TCAGAA | T |
c.772_776del
|
p.Asn258GlufsTer11
|
4.5 |
|
B | ||
| 12580 | chr13 | 48362865 | C | T |
c.769C>T
|
p.Gln257Ter
|
- | 4.0 |
|
B | |
| 13975 | chr13 | 48362872 | GGA | G |
c.778_779del
|
p.Ser260CysfsTer10
|
- | 4.0 |
|
B | |
| 13977 | chr13 | 48362875 | G | A |
c.779G>A
|
p.Ser260Asn
|
- | 3.0 |
|
B | |
| 27619 | chr13 | 48362914 | TTATTG | T |
c.819_823del
|
p.Ile274SerfsTer4
|
- | 4.0 |
|
B | |
| 32481 | chr13 | 48364911 | CA | C |
c.884del
|
p.Asn295IlefsTer6
|
- | 4.0 |
|
B |