Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9266 | chr17 | 17221576 | G | A |
c.832C>T
|
p.Pro278Ser
|
3.0 |
|
B | ||
| 21547 | chr17 | 17222495 | C | T |
c.779+6G>A
|
-
|
2.5 |
|
B | ||
| 986 | chr17 | 17222532 | GGTTGTCATCACTT | G |
c.735_747del
|
p.Ser246CysfsTer13
|
- | 4.0 |
|
B | |
| 6733 | chr17 | 17224109 | C | A |
c.431G>T
|
p.Gly144Val
|
- | 3.0 |
|
B | |
| 11857 | chr17 | 17226178 | C | T |
c.394G>A
|
p.Glu132Lys
|
- | 3.0 |
|
B | |
| 16828 | chr17 | 17226291 | C | T |
c.281G>A
|
p.Gly94Glu
|
3.0 |
|
B | ||
| 3810 | chr17 | 17226294 | G | A |
c.278C>T
|
p.Pro93Leu
|
2.5 |
|
B | ||
| 9371 | chr17 | 17228108 | G | GA |
c.29dup
|
p.Cys11LeufsTer26
|
- | 4.0 |
|
B | |
| 20624 | chr17 | 17228137 | T | A |
c.1A>T
|
p.Met1?
|
- | 4.0 |
|
B | |
| 3272 | chr17 | 17879665 | G | A |
c.739C>T
|
p.Pro247Ser
|
- | 3.0 |
|
B | |
| 19804 | chr17 | 18039631 | TC | T |
c.171del
-
|
p.Ala58ProfsTer84
-
|
- | 3.0 |
|
B | |
| 10878 | chr17 | 18039753 | TCCGCTGC | T |
c.291_297del
-
|
p.Ala98ProfsTer42
-
|
- | 3.5 |
|
B | |
| 10879 | chr17 | 18039761 | C | CAACCACA |
c.297_298insAACCACA
-
|
p.Ser100AsnfsTer65
-
|
- | 4.0 |
|
B | |
| 5965 | chr17 | 18039798 | A | C |
c.334A>C
-
|
p.Thr112Pro
-
|
- | 3.0 |
|
B | |
| 21976 | chr17 | 18054136 | A | G |
c.508A>G
|
p.Thr170Ala
|
- | 3.0 |
|
B | |
| 25701 | chr17 | 18056713 | G | T |
c.607-2155G>T
|
-
|
- | 3.0 |
|
B | |
| 34644 | chr17 | 18056934 | AC | A |
c.607-1933del
|
-
|
- | 3.0 |
|
B | |
| 16829 | chr17 | 18057000 | G | A |
c.607-1868G>A
|
-
|
- | 3.0 |
|
B | |
| 31473 | chr17 | 18126435 | G | A |
c.3845G>A
|
p.Arg1282Gln
|
3.0 |
|
B | ||
| 5220 | chr17 | 18184976 | T | C |
c.733T>C
|
p.Ser245Pro
|
3.0 |
|
B |