Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26507 | chr3 | 141580395 | C | G |
c.1618C>G
|
p.Leu540Val
|
3.0 |
|
B | ||
| 13393 | chr3 | 141581103 | A | C |
c.1678A>C
|
p.Ser560Arg
|
- | 3.0 |
|
B | |
| 25047 | chr3 | 141586675 | C | T |
c.1856C>T
|
p.Thr619Ile
|
- | 3.0 |
|
B | |
| 32695 | chr3 | 141607671 | T | C |
c.1934-7T>C
|
-
|
- | 3.0 |
|
B | |
| 11876 | chr3 | 142449439 | G | A |
c.7925C>T
-
|
p.Pro2642Leu
-
|
- | 3.0 |
|
B | |
| 1900 | chr3 | 142449535 | G | A |
c.7829C>T
-
|
p.Thr2610Ile
-
|
- | 3.0 |
|
B | |
| 21509 | chr3 | 142449572 | G | A |
c.7792C>T
-
|
p.Arg2598Ter
-
|
4.0 |
|
B | ||
| 26225 | chr3 | 142449613 | G | A |
c.7762-11C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 27943 | chr3 | 142453165 | G | A |
c.7724C>T
|
p.Ala2575Val
|
3.0 |
|
B | ||
| 180 | chr3 | 142453195 | C | T |
c.7694G>A
|
p.Trp2565Ter
|
- | 4.67 |
|
A | |
| 9847 | chr3 | 142457620 | G | A |
c.7639C>T
|
p.Arg2547Ter
|
4.0 |
|
B | ||
| 22644 | chr3 | 142458957 | C | T |
c.7503+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 35006 | chr3 | 142458984 | C | A |
c.7477G>T
|
p.Val2493Leu
|
- | 3.0 |
|
B | |
| 12394 | chr3 | 142459127 | T | C |
c.7350-16A>G
|
-
|
- | 2.5 |
|
B | |
| 12485 | chr3 | 142465116 | A | G |
c.7022T>C
|
p.Phe2341Ser
|
- | 3.0 |
|
B | |
| 14917 | chr3 | 142465146 | T | C |
c.6992A>G
|
p.Asp2331Gly
|
- | 3.0 |
|
B | |
| 9311 | chr3 | 142465237 | C | T |
c.6901G>A
|
p.Glu2301Lys
|
- | 4.0 |
|
B | |
| 10288 | chr3 | 142466527 | C | T |
c.6694G>A
|
p.Gly2232Arg
|
- | 3.0 |
|
B | |
| 19047 | chr3 | 142467960 | T | C |
c.6661A>G
|
p.Lys2221Glu
|
- | 3.0 |
|
B | |
| 9737 | chr3 | 142468040 | C | G |
c.6581G>C
|
p.Cys2194Ser
|
- | 3.0 |
|
B |