Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 765 | chr17 | 12032303 | G | A |
c.115+11302G>A
|
-
|
- | 3.0 |
|
B | |
| 13154 | chr17 | 12054992 | G | A |
c.218+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 13307 | chr17 | 12081353 | C | G |
c.219-3C>G
|
-
|
- | 3.0 |
|
B | |
| 35625 | chr17 | 12081355 | G | T |
c.219-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 23396 | chr17 | 12081370 | C | T |
c.233C>T
|
p.Thr78Ile
|
- | 3.0 |
|
B | |
| 6451 | chr17 | 12081395 | ACTGAAGATCTC | A |
c.260_270del
|
p.Leu87ProfsTer2
|
- | 4.0 |
|
B | |
| 32506 | chr17 | 12081459 | A | AT |
c.324dup
|
p.Gly109TrpfsTer23
|
- | 3.5 |
|
B | |
| 1249 | chr17 | 12095661 | C | A |
c.480C>A
|
p.Tyr160Ter
|
- | 3.5 |
|
B | |
| 9536 | chr17 | 12110400 | A | T |
c.659A>T
|
p.Lys220Ile
|
- | 3.0 |
|
B | |
| 5284 | chr17 | 12113341 | G | A |
c.794G>A
|
p.Gly265Asp
|
- | 3.0 |
|
B | |
| 25851 | chr17 | 12113341 | G | T |
c.794G>T
|
p.Gly265Val
|
- | 3.0 |
|
B | |
| 9248 | chr17 | 12113358 | G | A |
c.811G>A
|
p.Ala271Thr
|
- | 3.0 |
|
B | |
| 7181 | chr17 | 12113361 | G | C |
c.813+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 8606 | chr17 | 12125297 | G | C |
c.817G>C
|
p.Glu273Gln
|
- | 3.0 |
|
B | |
| 14816 | chr17 | 12125333 | G | A |
c.853G>A
|
p.Asp285Asn
|
- | 3.0 |
|
B | |
| 12365 | chr17 | 12125340 | G | A |
c.860G>A
|
p.Arg287His
|
- | 3.0 |
|
B | |
| 20764 | chr17 | 12125342 | T | C |
c.862T>C
|
p.Ser288Pro
|
- | 3.0 |
|
B | |
| 8607 | chr17 | 12125345 | G | T |
c.865G>T
|
p.Asp289Tyr
|
- | 3.0 |
|
B | |
| 27588 | chr17 | 12125362 | GA | G |
c.883del
|
p.Ile295SerfsTer23
|
- | 3.5 |
|
B | |
| 7503 | chr17 | 12129138 | G | A |
c.892-1G>A
|
p.?
|
- | 4.0 |
|
B |