Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9940 | chr17 | 80113028 | G | A |
c.2040+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 30049 | chr17 | 80113320 | C | T |
c.2143C>T
|
p.Gln715Ter
|
3.0 |
|
B | ||
| 24030 | chr17 | 80113340 | G | C |
c.2163G>C
|
p.Glu721Asp
|
- | 3.0 |
|
B | |
| 16621 | chr17 | 80117060 | C | T |
c.2282C>T
|
p.Ala761Val
|
- | 3.0 |
|
B | |
| 28223 | chr17 | 80117648 | C | T |
c.2380C>T
|
p.Arg794Cys
|
3.0 |
|
B | ||
| 16304 | chr17 | 80117685 | C | T |
c.2417C>T
|
p.Thr806Met
|
3.0 |
|
B | ||
| 24020 | chr17 | 80118220 | C | T |
c.2509C>T
|
p.Arg837Cys
|
3.0 |
|
B | ||
| 13901 | chr17 | 80118224 | A | G |
c.2513A>G
|
p.Gln838Arg
|
- | 3.0 |
|
B | |
| 33959 | chr17 | 80288690 | A | G |
c.868A>G
|
p.Lys290Glu
|
3.0 |
|
B | ||
| 26032 | chr17 | 80289722 | C | A |
c.997C>A
|
p.Gln333Lys
|
- | 3.0 |
|
B | |
| 33708 | chr17 | 80289851 | C | T |
c.1112+14C>T
|
-
|
3.0 |
|
B | ||
| 29810 | chr17 | 80290638 | A | G |
c.1181A>G
|
p.Asn394Ser
|
3.0 |
|
B | ||
| 29006 | chr17 | 80291660 | G | A |
c.1304G>A
|
p.Gly435Asp
|
- | 3.0 |
|
B | |
| 22783 | chr17 | 80295561 | A | C |
c.1760A>C
|
p.Lys587Thr
|
- | 3.0 |
|
B | |
| 32178 | chr17 | 80298341 | A | G |
c.2033A>G
|
p.Asn678Ser
|
- | 3.0 |
|
B | |
| 17679 | chr17 | 80298385 | G | T |
c.2077G>T
|
p.Gly693Cys
|
- | 3.0 |
|
B | |
| 24049 | chr17 | 80298388 | G | A |
c.2080G>A
|
p.Ala694Thr
|
3.0 |
|
B | ||
| 35032 | chr17 | 80298491 | C | A |
c.2183C>A
|
p.Ser728Ter
|
- | 3.0 |
|
B | |
| 26517 | chr17 | 80298491 | C | T |
c.2183C>T
|
p.Ser728Leu
|
- | 3.0 |
|
B | |
| 12353 | chr17 | 80306267 | GT | G |
c.2229del
|
p.Phe743LeufsTer2
|
- | 3.0 |
|
B |