Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20725 | chr2 | 201271529 | C | G |
c.319C>G
|
p.Gln107Glu
|
- | 3.5 |
|
B | |
| 31016 | chr2 | 201271536 | CAGA | C |
c.332_334del
|
p.Glu111del
|
3.0 |
|
B | ||
| 25433 | chr2 | 201272715 | CTG | C |
c.492_493del
|
p.Ala165ProfsTer14
|
- | 4.0 |
|
B | |
| 11509 | chr2 | 201272726 | TCAA | T |
c.504_506del
|
p.Asn168del
|
- | 3.0 |
|
B | |
| 33387 | chr2 | 201272727 | C | A |
c.501C>A
|
p.Ile167=
|
- | 3.0 |
|
B | |
| 27049 | chr2 | 201272778 | T | C |
c.550+2T>C
|
p.?
|
4.0 |
|
B | ||
| 22844 | chr2 | 201274931 | G | A |
c.638G>A
|
p.Arg213Lys
|
- | 3.0 |
|
B | |
| 24746 | chr2 | 201276942 | A | T |
c.776A>T
|
p.Asp259Val
|
- | 3.0 |
|
B | |
| 34133 | chr2 | 201276943 | C | A |
c.777C>A
|
p.Asp259Glu
|
- | 3.0 |
|
B | |
| 8683 | chr2 | 201276962 | G | C |
c.796G>C
|
p.Asp266His
|
- | 3.0 |
|
B | |
| 24151 | chr2 | 201284911 | C | T |
c.898C>T
-
|
p.Gln300Ter
-
|
- | 4.0 |
|
B | |
| 34885 | chr2 | 201284936 | A | G |
c.923A>G
-
|
p.Asp308Gly
-
|
- | 3.0 |
|
B | |
| 29790 | chr2 | 201285170 | C | T |
c.1157C>T
-
|
p.Ser386Leu
-
|
3.0 |
|
B | ||
| 6603 | chr2 | 201285208 | T | C |
c.1195T>C
-
|
p.Phe399Leu
-
|
- | 3.0 |
|
B | |
| 229 | chr2 | 201285237 | CTG | C |
c.1228_1229del
-
|
p.Val410PhefsTer28
-
|
4.67 |
|
A | ||
| 617 | chr2 | 201285244 | TCC | T |
c.1232_1233del
-
|
p.Ser411LeufsTer27
-
|
- | 4.0 |
|
B | |
| 147 | chr2 | 201285316 | C | T |
c.1303C>T
-
|
p.Arg435Ter
-
|
4.67 |
|
A | ||
| 25327 | chr2 | 201286473 | T | C |
c.1319T>C
-
|
p.Leu440Pro
-
|
- | 3.0 |
|
B | |
| 6943 | chr2 | 201286547 | C | G |
c.1393C>G
-
|
p.Gln465Glu
-
|
- | 3.0 |
|
B | |
| 31017 | chr2 | 201286547 | C | T |
c.1393C>T
-
|
p.Gln465Ter
-
|
- | 4.0 |
|
B |