Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14184 | chr2 | 178607105 | A | T |
c.53497T>A
|
p.Tyr17833Asn
|
- | 3.0 |
|
B | |
| 25042 | chr2 | 178607332 | C | T |
c.53288-18G>A
|
-
|
- | 3.0 |
|
B | |
| 12261 | chr2 | 178607383 | C | T |
c.53287+18G>A
|
-
|
- | 3.0 |
|
B | |
| 24055 | chr2 | 178607408 | T | G |
c.53280A>C
|
p.Glu17760Asp
|
- | 3.0 |
|
B | |
| 21147 | chr2 | 178607473 | G | A |
c.53215C>T
|
p.His17739Tyr
|
- | 3.0 |
|
B | |
| 18207 | chr2 | 178607988 | T | C |
c.52799A>G
|
p.Glu17600Gly
|
- | 3.0 |
|
B | |
| 21596 | chr2 | 178607992 | C | T |
c.52795G>A
|
p.Gly17599Arg
|
- | 3.0 |
|
B | |
| 12637 | chr2 | 178608297 | G | A |
c.52586C>T
|
p.Ala17529Val
|
- | 3.0 |
|
B | |
| 21597 | chr2 | 178608445 | C | T |
c.52438G>A
|
p.Glu17480Lys
|
- | 3.0 |
|
B | |
| 21480 | chr2 | 178608477 | C | A |
c.52406G>T
|
p.Gly17469Val
|
- | 3.0 |
|
B | |
| 20450 | chr2 | 178608750 | C | A |
c.52261G>T
|
p.Val17421Phe
|
3.0 |
|
B | ||
| 15045 | chr2 | 178608762 | C | T |
c.52249G>A
|
p.Glu17417Lys
|
- | 3.0 |
|
B | |
| 16519 | chr2 | 178608813 | C | T |
c.52198G>A
|
p.Glu17400Lys
|
- | 3.0 |
|
B | |
| 30382 | chr2 | 178608902 | G | A |
c.52109C>T
|
p.Pro17370Leu
|
3.0 |
|
B | ||
| 21998 | chr2 | 178609300 | CGGACGCGT | C |
c.52002_52009del
|
p.Val17336PhefsTer5
|
- | 3.0 |
|
B | |
| 12638 | chr2 | 178609312 | T | G |
c.51998A>C
|
p.Gln17333Pro
|
- | 3.0 |
|
B | |
| 21999 | chr2 | 178609312 | T | TACGCGTCC |
c.51997_51998insGGACGCGT
|
p.Gln17333ArgfsTer19
|
- | 3.0 |
|
B | |
| 31339 | chr2 | 178609349 | G | A |
c.51961C>T
|
p.Arg17321Cys
|
2.5 |
|
B | ||
| 18384 | chr2 | 178609549 | C | T |
c.51761G>A
|
p.Arg17254Lys
|
3.0 |
|
B | ||
| 35565 | chr2 | 178609558 | A | T |
c.51752T>A
|
p.Val17251Asp
|
- | 3.0 |
|
B |