Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12236 | chr6 | 46676416 | G | GA |
c.940dup
|
p.Ile314AsnfsTer14
|
- | 3.0 |
|
B | |
| 3644 | chr6 | 46688549 | GCGGGCTCAGGCGA | G |
c.422_434del
|
p.Ala141GlyfsTer106
|
- | 3.0 |
|
B | |
| 3645 | chr6 | 46688564 | C | CTCGCCTGAGCCCG |
c.436_437insTCGCCTGAGCCCG
|
p.Pro146LeufsTer3
|
- | 3.0 |
|
B | |
| 31841 | chr6 | 55755567 | C | A |
c.1331G>T
|
p.Arg444Ile
|
- | 3.0 |
|
B | |
| 23861 | chr6 | 55755658 | C | A |
c.1240G>T
|
p.Val414Leu
|
- | 3.0 |
|
B | |
| 27643 | chr6 | 55755667 | G | A |
c.1231C>T
|
p.Pro411Ser
|
- | 3.0 |
|
B | |
| 14854 | chr6 | 55755687 | G | A |
c.1216-5C>T
|
-
|
- | 3.0 |
|
B | |
| 14730 | chr6 | 55760492 | C | T |
c.1069G>A
|
p.Glu357Lys
|
3.0 |
|
B | ||
| 26301 | chr6 | 55774035 | G | A |
c.1027+14C>T
|
-
|
3.0 |
|
B | ||
| 24554 | chr6 | 55774114 | C | T |
c.962G>A
|
p.Arg321Gln
|
3.0 |
|
B | ||
| 30832 | chr6 | 55774138 | C | T |
c.938G>A
|
p.Arg313Gln
|
- | 3.0 |
|
B | |
| 25300 | chr6 | 55774139 | G | A |
c.937C>T
|
p.Arg313Ter
|
3.0 |
|
B | ||
| 28301 | chr6 | 55794280 | ATCCCC | A |
c.826_830del
|
p.Gly276TrpfsTer32
|
- | 3.5 |
|
B | |
| 27036 | chr6 | 55819716 | G | A |
c.622C>T
|
p.Arg208Ter
|
3.0 |
|
B | ||
| 27810 | chr6 | 55819796 | C | T |
c.542G>A
|
p.Arg181Gln
|
3.0 |
|
B | ||
| 17290 | chr6 | 55819797 | G | A |
c.541C>T
|
p.Arg181Ter
|
3.0 |
|
B | ||
| 31431 | chr6 | 55874471 | G | A |
c.395C>T
|
p.Thr132Met
|
3.0 |
|
B | ||
| 21103 | chr6 | 55874492 | C | A |
c.374G>T
|
p.Arg125Leu
|
- | 3.0 |
|
B | |
| 18210 | chr6 | 55874492 | C | T |
c.374G>A
|
p.Arg125His
|
3.0 |
|
B | ||
| 33203 | chr6 | 55874493 | G | A |
c.373C>T
|
p.Arg125Cys
|
3.0 |
|
B |