Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29269 | chr11 | 49146859 | C | T |
c.2150G>A
|
p.Ser717Asn
|
2.5 |
|
B | ||
| 33754 | chr11 | 49146889 | C | T |
c.2120G>A
|
p.Gly707Glu
|
3.0 |
|
B | ||
| 28213 | chr11 | 49146890 | C | T |
c.2119G>A
|
p.Gly707Arg
|
- | 3.0 |
|
B | |
| 24914 | chr11 | 49148637 | A | G |
c.2063+2T>C
|
p.?
|
3.0 |
|
B | ||
| 32037 | chr11 | 49154268 | C | A |
c.1848G>T
|
p.Met616Ile
|
- | 3.0 |
|
B | |
| 20530 | chr11 | 49154367 | C | T |
c.1749G>A
|
p.Met583Ile
|
3.0 |
|
B | ||
| 32473 | chr11 | 49154411 | T | C |
c.1705A>G
|
p.Met569Val
|
3.0 |
|
B | ||
| 32136 | chr11 | 49156742 | C | T |
c.1598G>A
|
p.Gly533Asp
|
- | 3.0 |
|
B | |
| 22098 | chr11 | 49156749 | CAATTCCAAGTCGTTGGA | C |
c.1574_1590del
|
p.Phe525CysfsTer9
|
- | 3.0 |
|
B | |
| 32187 | chr11 | 49156782 | C | A |
c.1558G>T
|
p.Asp520Tyr
|
- | 3.0 |
|
B | |
| 26811 | chr11 | 49157937 | C | T |
c.1532+15G>A
|
-
|
- | 3.0 |
|
B | |
| 30242 | chr11 | 49157976 | G | A |
c.1508C>T
|
p.Ser503Phe
|
- | 3.0 |
|
B | |
| 23842 | chr11 | 49157993 | C | T |
c.1491G>A
|
p.Trp497Ter
|
3.0 |
|
B | ||
| 34342 | chr11 | 49164775 | G | A |
c.1373-3C>T
|
-
|
3.0 |
|
B | ||
| 25767 | chr11 | 49169186 | G | A |
c.1372+9C>T
|
-
|
3.0 |
|
B | ||
| 27100 | chr11 | 49169210 | C | G |
c.1357G>C
|
p.Asp453His
|
- | 3.0 |
|
B | |
| 23657 | chr11 | 49169225 | C | G |
c.1342G>C
|
p.Ala448Pro
|
- | 3.0 |
|
B | |
| 31165 | chr11 | 49169228 | C | T |
c.1339G>A
|
p.Val447Met
|
3.0 |
|
B | ||
| 35124 | chr11 | 49169256 | C | T |
c.1311G>A
|
p.Glu437=
|
3.0 |
|
B | ||
| 28358 | chr11 | 49169262 | T | C |
c.1309-4A>G
|
-
|
- | 3.0 |
|
B |