Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25403 | chr2 | 178722030 | G | A |
c.22633C>T
|
p.Arg7545Ter
|
3.0 |
|
B | ||
| 31015 | chr2 | 178722031 | C | T |
c.22632G>A
|
p.Met7544Ile
|
- | 3.0 |
|
B | |
| 24898 | chr2 | 178722132 | G | T |
c.22531C>A
|
p.Pro7511Thr
|
- | 3.0 |
|
B | |
| 14443 | chr2 | 178722240 | G | C |
c.22528+19C>G
|
-
|
- | 3.0 |
|
B | |
| 12482 | chr2 | 178722551 | A | G |
c.22241-5T>C
|
-
|
2.0 |
|
B | ||
| 15621 | chr2 | 178722558 | C | A |
c.22241-12G>T
|
-
|
- | 3.0 |
|
B | |
| 17824 | chr2 | 178722767 | C | G |
c.22132G>C
|
p.Ala7378Pro
|
- | 3.0 |
|
B | |
| 33474 | chr2 | 178722844 | A | C |
c.22055T>G
|
p.Ile7352Ser
|
- | 3.0 |
|
B | |
| 16001 | chr2 | 178722873 | T | A |
c.22026A>T
|
p.Leu7342Phe
|
- | 3.0 |
|
B | |
| 15704 | chr2 | 178722908 | G | T |
c.21991C>A
|
p.Pro7331Thr
|
3.0 |
|
B | ||
| 16518 | chr2 | 178722943 | G | A |
c.21962-6C>T
|
-
|
2.0 |
|
B | ||
| 21370 | chr2 | 178723051 | G | T |
c.21956C>A
|
p.Thr7319Lys
|
3.0 |
|
B | ||
| 32230 | chr2 | 178723182 | T | G |
c.21825A>C
|
p.Lys7275Asn
|
- | 3.0 |
|
B | |
| 13138 | chr2 | 178723408 | T | G |
c.21682+10A>C
|
-
|
- | 3.0 |
|
B | |
| 35477 | chr2 | 178723589 | A | G |
c.21511T>C
|
p.Phe7171Leu
|
- | 3.0 |
|
B | |
| 33175 | chr2 | 178723625 | C | T |
c.21475G>A
|
p.Val7159Ile
|
2.5 |
|
B | ||
| 31205 | chr2 | 178724038 | G | A |
c.21221C>T
|
p.Ser7074Leu
|
3.0 |
|
B | ||
| 26767 | chr2 | 178724328 | C | T |
c.21047G>A
|
p.Gly7016Asp
|
- | 3.0 |
|
B | |
| 34687 | chr2 | 178724405 | G | T |
c.20970C>A
|
p.Ser6990Arg
|
- | 3.0 |
|
B | |
| 14395 | chr2 | 178724465 | C | A |
c.20910G>T
|
p.Lys6970Asn
|
- | 3.0 |
|
B |