Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27242 | chr2 | 178584596 | G | A |
c.64973-18C>T
|
-
|
- | 3.0 |
|
B | |
| 24441 | chr2 | 178584711 | C | A |
c.64930G>T
|
p.Glu21644Ter
|
- | 3.0 |
|
B | |
| 35428 | chr2 | 178584743 | C | T |
c.64898G>A
|
p.Arg21633Gln
|
2.5 |
|
B | ||
| 16276 | chr2 | 178585081 | C | T |
c.64663G>A
|
p.Val21555Ile
|
- | 3.0 |
|
B | |
| 28427 | chr2 | 178585167 | A | G |
c.64577T>C
|
p.Ile21526Thr
|
3.0 |
|
B | ||
| 17605 | chr2 | 178585302 | C | T |
c.64442G>A
|
p.Gly21481Glu
|
- | 3.0 |
|
B | |
| 16309 | chr2 | 178585333 | G | A |
c.64411C>T
|
p.Leu21471Phe
|
3.0 |
|
B | ||
| 23304 | chr2 | 178586574 | C | A |
c.64327G>T
|
p.Ala21443Ser
|
- | 3.0 |
|
B | |
| 31064 | chr2 | 178586580 | C | T |
c.64321G>A
|
p.Val21441Ile
|
- | 3.0 |
|
B | |
| 28949 | chr2 | 178586634 | C | G |
c.64267G>C
|
p.Asp21423His
|
- | 3.0 |
|
B | |
| 19392 | chr2 | 178586726 | C | T |
c.64175G>A
|
p.Arg21392His
|
2.5 |
|
B | ||
| 17641 | chr2 | 178587112 | A | G |
c.64093+6T>C
|
-
|
3.0 |
|
B | ||
| 28411 | chr2 | 178587163 | C | T |
c.64048G>A
|
p.Val21350Ile
|
3.0 |
|
B | ||
| 31086 | chr2 | 178587294 | C | T |
c.63917G>A
|
p.Arg21306His
|
1.5 |
|
B | ||
| 18381 | chr2 | 178587330 | C | T |
c.63881G>A
|
p.Gly21294Asp
|
- | 3.0 |
|
B | |
| 22261 | chr2 | 178587650 | C | T |
c.63659G>A
|
p.Gly21220Glu
|
3.0 |
|
B | ||
| 12903 | chr2 | 178587708 | G | A |
c.63601C>T
|
p.Arg21201Ter
|
3.0 |
|
B | ||
| 18553 | chr2 | 178587769 | C | T |
c.63540G>A
|
p.Met21180Ile
|
- | 3.0 |
|
B | |
| 29051 | chr2 | 178588097 | T | C |
c.63310A>G
|
p.Arg21104Gly
|
- | 3.0 |
|
B | |
| 31250 | chr2 | 178588098 | C | G |
c.63309G>C
|
p.Met21103Ile
|
3.0 |
|
B |