Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25626 | chr6 | 117387777 | C | T |
c.1999+3G>A
|
-
|
3.0 |
|
B | ||
| 9617 | chr6 | 117387945 | G | T |
c.1834C>A
|
p.Gln612Lys
|
- | 3.0 |
|
B | |
| 35166 | chr6 | 117387995 | A | G |
c.1787-3T>C
|
-
|
3.0 |
|
B | ||
| 13625 | chr6 | 117389409 | A | T |
c.1727T>A
|
p.Leu576Gln
|
- | 3.0 |
|
B | |
| 1130 | chr6 | 117389415 | G | A |
c.1721C>T
|
p.Ser574Leu
|
3.0 |
|
B | ||
| 10927 | chr6 | 117389431 | G | A |
c.1705C>T
|
p.Arg569Cys
|
3.0 |
|
B | ||
| 32423 | chr6 | 117389470 | T | G |
c.1666A>C
|
p.Ile556Leu
|
- | 3.0 |
|
B | |
| 34959 | chr6 | 117389710 | T | TC |
c.1425_1426insG
|
p.Ile476AspfsTer6
|
- | 3.0 |
|
B | |
| 28158 | chr6 | 117389734 | C | A |
c.1402G>T
|
p.Ala468Ser
|
3.0 |
|
B | ||
| 12724 | chr6 | 117389811 | C | T |
c.1325G>A
|
p.Arg442Lys
|
- | 3.0 |
|
B | |
| 22317 | chr6 | 117394153 | C | T |
c.1191+9G>A
|
-
|
3.0 |
|
B | ||
| 27402 | chr6 | 117394227 | C | A |
c.1126G>T
|
p.Gly376Ter
|
- | 3.0 |
|
B | |
| 17366 | chr6 | 117394286 | G | A |
c.1067C>T
|
p.Ala356Val
|
3.0 |
|
B | ||
| 10804 | chr6 | 117394736 | G | A |
c.886C>T
|
p.Gln296Ter
|
- | 3.0 |
|
B | |
| 30779 | chr6 | 117396188 | C | G |
c.883G>C
|
p.Val295Leu
|
- | 3.0 |
|
B | |
| 22318 | chr6 | 117396214 | G | A |
c.857C>T
|
p.Ser286Phe
|
3.0 |
|
B | ||
| 12272 | chr6 | 117396904 | T | C |
c.806+11A>G
|
-
|
- | 3.0 |
|
B | |
| 13508 | chr6 | 117403195 | G | A |
c.548C>T
|
p.Ala183Val
|
3.0 |
|
B | ||
| 7009 | chr6 | 117404311 | G | A |
c.434C>T
|
p.Ala145Val
|
- | 3.0 |
|
B | |
| 10607 | chr6 | 117404387 | C | A |
c.358G>T
|
p.Gly120Ter
|
- | 3.0 |
|
B |